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TFmiR2
Constructing and analyzing disease-, tissue- and process-specific transcription factor and miRNA co-regulatory networks
v2.0
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Step 1: Input selection
Load example data
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miRNA
None
mRNA
None
Step 2: Configuration
miRNA-target enrichment p-value threshold
Species
Human
Mouse
ORA p-value threshold
Related disease
No disease
Adenocarcinoma
Amyotrophic Lateral Sclerosis
Down Syndrome
Glioblastoma
Hepatomegaly
Schizophrenia
Alzheimer's Disease
Amyloidosis
Anemia, Hemolytic
Rheumatoid Arthritis
Asthma
Astrocytoma
Malignant neoplasm of breast
Malignant tumor of colon
Colonic Neoplasms
Cystic Fibrosis
Presenile dementia
Mental Depression
Depressive disorder
Diabetes
Diabetes Mellitus
Membranous glomerulonephritis
Hepatolenticular Degeneration
Angioedemas, Hereditary
Keratoconus
Keratosis Follicularis
Kidney Failure, Acute
liposarcoma
Liver Cirrhosis
Liver Cirrhosis, Experimental
Liver neoplasms
Lung diseases
Chronic Obstructive Airway Disease
Lung Neoplasms
melanoma
Multiple Sclerosis
Myocardial Infarction
Nasal Polyps
Neoplasm Metastasis
Nephrotic Syndrome
Obesity
Degenerative polyarthritis
Other specified peritonitis
Pancreatitis
Prostatic Neoplasms
Pulmonary Emphysema
Cerebrovascular accident
Thromboembolism
Trypanosomiasis
Urinary Incontinence
Cerebral Amyloid Angiopathy
Deep Vein Thrombosis
Secondary malignant neoplasm of bone
Hepatocellular Adenoma
Diastrophic dysplasia
alpha 1-Antitrypsin Deficiency
Embolism, Paradoxical
Fibrosis, Liver
Hypoalbuminemia
Malignant neoplasm of lung
Familial lichen amyloidosis
Familial Alzheimer Disease (FAD)
Adult Hepatocellular Carcinoma
Senile Plaques
Argyrophilic grain disease
Malignant neoplasm of prostate
Thrombophilia
Alzheimer Disease, Late Onset
Overweight
Neurodegenerative Disorders
Acute Confusional Senile Dementia
Prostate carcinoma
Lung Diseases, Obstructive
Toxic Shock Syndrome
Breast Carcinoma
Chronic lung disease
Alzheimer's Disease, Focal Onset
Alzheimer Disease, Early Onset
Lewy Body Disease
Chronic graft-versus-host disease
Ischemic stroke
Hepatic Form of Wilson Disease
Acute Kidney Insufficiency
Benign Prostatic Hyperplasia
AURAL ATRESIA, CONGENITAL
Liver carcinoma
Acute kidney injury
Plaque, Amyloid
Prostatic Hyperplasia
alpha-2-Macroglobulin Deficiency
alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Congenital Abnormality
Adenoma
Alcoholic Intoxication, Chronic
Autosome Abnormalities
Malignant neoplasm of urinary bladder
Bladder Neoplasm
Malignant Neoplasms
Candidiasis
Squamous cell carcinoma
Chromosome Aberrations
Congenital chromosomal disease
Ulcerative Colitis
Colorectal Carcinoma
Colorectal Neoplasms
Drug toxicity
Hepatitis B
Inflammation
Laryngeal neoplasm
leukemia
Chronic Lymphocytic Leukemia
Acute lymphocytic leukemia
Acute Promyelocytic Leukemia
Lupus Erythematosus, Systemic
Lymphoma
Lymphoma, Follicular
Lymphoma, Non-Hodgkin
Malignant neoplasm of stomach
Multiple Myeloma
Neoplasms
Neuroblastoma
Dermatitis, Occupational
Adenomatous Polyposis Coli
polyps
Psoriasis
Adverse reaction to drug
T-Cell Lymphoma
Spina Bifida
Industrial Dermatosis
Benign Neoplasm
Malignant neoplasm of mouth
Cholangiocarcinoma
Lip and Oral Cavity Carcinoma
Congenital defects
Pancreatic carcinoma
Carcinoma of Male Breast
Malignant neoplasm of male breast
Asthma, Occupational
Gastric Adenocarcinoma
Adenocarcinoma of pancreas
Hyperplastic Polyp
Adenocarcinoma of colon
Malignant neoplasm of pancreas
Malignant neoplasm of esophagus
Carcinogenesis
Leukemogenesis
Carcinoma of lung
Colon Carcinoma
Stomach Carcinoma
Carcinoma of bladder
Central neuroblastoma
early pregnancy
Malignant Squamous Cell Neoplasm
Environment-Related Malignant Neoplasm
Polyp of large intestine
Squamous cell carcinoma of the head and neck
Adenoma of large intestine
Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma
Primary malignant neoplasm of lung
Adenocarcinoma of large intestine
Mammary Neoplasms
Colorectal Cancer
Slow acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant
Laryngeal cleft
Orofacial cleft
Allergic disposition
Luminal A Breast Carcinoma
Allergic sensitization
Childhood Neuroblastoma
Acquired Immunodeficiency Syndrome
Anemia
Refractory anemias
Behcet Syndrome
Brain Neoplasms
Female Breast Carcinoma
Malignant neoplasm of larynx
Rectal Carcinoma
Malignant neoplasm of thyroid
Non-Small Cell Lung Carcinoma
Renal Cell Carcinoma
Malignant tumor of cervix
Cholelithiasis
Cleft upper lip
Coronary Arteriosclerosis
Crohn Disease
Senile dementia
Dementia, Vascular
Dermatitis, Atopic
Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent
Diabetic Nephropathy
Diastematomyelia
Drug Allergy
Endometriosis
Epilepsy
Esophageal Neoplasms
Exanthema
Breast Fibrocystic Disease
gallbladder neoplasm
Gilbert Disease (disorder)
Gingival Diseases
Glioma
Head and Neck Neoplasms
Hepatitis
Hepatitis A
Hepatitis, Toxic
HIV Infections
Huntington Disease
Hypertensive disease
Male infertility
Inflammatory Bowel Diseases
Kidney Failure, Chronic
Childhood Acute Lymphoblastic Leukemia
Leukemia, Lymphocytic, Acute, L2
Leukemia, Myelocytic, Acute
Myeloid Leukemia
Leukopenia
Leukoplakia, Oral
Liver Cirrhosis, Alcoholic
Liver diseases
Meningioma
Mouth Neoplasms
Myopathy
Neural Tube Defects
Neurenteric Cyst
Osteopenia
Ovarian Carcinoma
Pancreatic Neoplasm
Parkinson Disease
Periodontal Diseases
Pre-Eclampsia
Rectal Neoplasms
Systemic Scleroderma
Stomach Neoplasms
Thyroid Neoplasm
Tuberculosis
Tuberculosis, Pulmonary
Virus Diseases
B-Cell Lymphomas
Diffuse Large B-Cell Lymphoma
Tethered Cord Syndrome
Peripheral Vascular Diseases
Encephalopathies
Idiopathic Membranous Glomerulonephritis
Adenocarcinoma of lung (disorder)
Esophageal carcinoma
Iniencephaly
Craniorachischisis
Malignant neoplasm of oropharynx
Malignant neoplasm of gallbladder
Allergic asthma
Mitochondrial Myopathies
Dermatitis, Allergic Contact
Tumor Progression
Triglycerides measurement
Adenomatous Polyps
Carcinoma, Large Cell
Adult Brain Neoplasm
Chronic berylliosis
Malignant neoplasm of female breast
Gallbladder Carcinoma
Medullary carcinoma of thyroid
Age related macular degeneration
Exencephaly
Chronic Periodontitis
Malignant Head and Neck Neoplasm
Squamous cell carcinoma of esophagus
Transitional cell carcinoma of bladder
Solid Neoplasm
Squamous cell carcinoma of oropharynx
Laryngeal Squamous Cell Carcinoma
Cervix carcinoma
Chronic liver disease
Spinal Cord Myelodysplasia
Malignant neoplasm of liver
Malignant mesothelioma
Pancreatitis, Alcoholic
Dementia
Thyroid carcinoma
Oropharyngeal disorders
Carcinoma of larynx
Epithelial ovarian cancer
Acrania
Premenopausal breast cancer
Cleft Lip with or without Cleft Palate
Malignant Pleural Mesothelioma
Drug-Induced Liver Disease
Cardiomyopathies
Malignant neoplasm of ovary
Mammary Neoplasms, Human
Hepatitis, Drug-Induced
Asbestos-Related Malignant Mesothelioma
Hereditary Nonpolyposis Colorectal Cancer
Differentiated Thyroid Gland Carcinoma
hearing impairment
Vascular lesions
Serum total cholesterol measurement
Hepatocarcinogenesis
Renal Insufficiency
Glioblastoma Multiforme
Peripheral Arterial Diseases
Meningioma, benign, no ICD-O subtype
Cleft lip, isolated
Coronary Artery Disease
Precursor Cell Lymphoblastic Leukemia Lymphoma
Chronic kidney disease stage 5
Oropharyngeal Carcinoma
Drug Hypersensitivity Syndrome
Luminal B Breast Carcinoma
Drug-Induced Acute Liver Injury
Leukemia in children
Head and Neck Carcinoma
Early Rheumatoid Arthritis
cervical cancer
Infant Leukemia
Young onset Parkinson disease
Chemical and Drug Induced Liver Injury
Chemically-Induced Liver Toxicity
Anaplasia
Blood Coagulation Disorders
Intracranial Aneurysm
Cerebrovascular Disorders
Cholera
Diabetic Retinopathy
Heart failure
Congestive heart failure
Hepatitis C
Lipoidosis
Machado-Joseph Disease
Malaria
Prostatic Diseases
Pseudotumor Cerebri
Psychotic Disorders
Retinal Diseases
Shy-Drager Syndrome
Subarachnoid Hemorrhage
Trisomy
Vascular Diseases
Vasculitis
Pertussis
Whooping cough due to unspecified organism
Pancreatitis, Chronic
Cholinergic urticaria
Acute myocardial infarction
Prion Diseases
Low density lipoprotein cholesterol measurement
Urticaria due to cold
Adult Glioblastoma
Childhood Glioblastoma
Malignant Fibrous Histiocytoma
Impaired cognition
Nonorganic psychosis
Chronic active hepatitis
Recurrent tumor
invasive cancer
Inclusion Body Myopathy, Sporadic
ovarian neoplasm
Tauopathies
AMYOTROPHIC LATERAL SCLEROSIS 1
Amyotrophic Lateral Sclerosis, Sporadic
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Cerebral Hemorrhage
Decreased Concentration
Hemoglobinopathies
Infant, Premature
Myelodysplasia
Rhabdomyosarcoma
Gilles de la Tourette syndrome
Hyperactive behavior
Sarcoma
MYELODYSPLASTIC SYNDROME
Grade 3 Colon Adenocarcinoma
Depression, Bipolar
Retinoblastoma
Unipolar Depression
Reticulocyte count (procedure)
Malignant neoplasm of large intestine
Delayed Sleep Phase Syndrome
Nonorganic Sleep Wake Cycle Disorders
Advanced Sleep Phase Syndrome
Non-24 Hour Sleep-Wake Disorder
Shift-Work Sleep Disorder
Sleep Disorders, Circadian Rhythm
Major Depressive Disorder
Primary malignant neoplasm
Autism Spectrum Disorders
Ataxia
Ataxias, Hereditary
Blepharospasm
Cerebellar Ataxia
Charcot-Marie-Tooth Disease
Chorea
Fetal Growth Retardation
Sensorineural Hearing Loss (disorder)
Hip Dislocation
Infant, Small for Gestational Age
Microcephaly
Muscle Spasticity
Nystagmus
Peripheral Neuropathy
Foot-drop
Degenerative brain disorder
Failure to gain weight
Absent reflex
Muscle degeneration
Peripheral motor neuropathy
Cerebral atrophy
Reflex, Deep Tendon, Absent
Hereditary Motor and Sensory-Neuropathy Type II
Axonal neuropathy
Neurogenic Muscular Atrophy
Absent tendon reflex
Short stature
Small head
Distal muscle weakness
Neuropathy
Skeletal muscle atrophy
Epileptic encephalopathy
Hypomyelination
Global developmental delay
Congenital pes cavus
Idiopathic Inflammatory Myopathies
Hammer Toe
Peripheral axonal neuropathy
Intrauterine retardation
Cardiac fibrosis
Neurogenic muscle atrophy, especially in the lower limbs
Distal sensory impairment
Generalized hypotonia
Decreased motor nerve conduction velocity
Distal limb muscle weakness due to peripheral neuropathy
Cognitive delay
Foot dorsiflexor weakness
Pediatric failure to thrive
Charcot-Marie-Tooth Disease, Axonal, Type 2n
Mitochondrial cardiomyopathy
Intellectual Disability
Choreatic disease
Supratentorial atrophy
Mental and motor retardation
CNS hypomyelination
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
Undergrowth
CNS disorder
Hemophilia B
Muscular Dystrophy, Duchenne
Fanconi Anemia
Glaucoma
Chronic granulomatous disease
Hemophilia A
Herpes Simplex Infections
Homocystinuria
Late-Infantile Neuronal Ceroid Lipfuscinosis
Myeloid Leukemia, Chronic
Mucopolysaccharidoses
nervous system disorder
Neuralgia
Retinitis Pigmentosa
Sandhoff Disease
Teratoma
Citrullinemia
Ornithine carbamoyltransferase deficiency
Impaired glucose tolerance
Hemoglobin Bart's hydrops syndrome
Mastitis-metritis-agalactia syndrome
Arrhythmogenic Right Ventricular Dysplasia
Hemophilia, NOS
Muscular Dystrophies, Limb-Girdle
Myxoid cyst
IMMUNE SUPPRESSION
Granulomatous Disease, Chronic, X-Linked
Alpha-Sarcoglycanopathies
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
Amnesia
Autistic Disorder
Gastroesophageal reflux disease
Heroin Dependence
Ischemia
Jacksonian Seizure
Lethargy
Leukodystrophy
Flaccid Muscle Tone
Muscle hypotonia
Psychomotor Disorders
Reflex, Abnormal
Seizures
Status Epilepticus
Complex partial seizures
Reflex, Corneal, Decreased
Hyporeflexia
Hyperreflexia
Agenesis of corpus callosum
Generalized seizures
Seizures, Clonic
Reflex, Gag, Absent
High pitched cry
Tall stature
Cerebellar Hypoplasia
Visual seizure
Tonic Seizures
Epileptic drop attack
Epilepsy, Reflex
Hoffman's Reflex
Reflex, Pendular
Reflex, Corneal, Absent
Gamma aminobutyric acid transaminase deficiency
Seizures, Somatosensory
Seizures, Auditory
Olfactory seizure
Gustatory seizure
Vertiginous seizure
Downward slant of palpebral fissure
Floppy Muscles
Muscle Tone Atonic
Tonic - clonic seizures
Reflex, Acoustic, Abnormal
Mood Disorders
Reflex, Ankle, Absent
Reflex, Triceps, Absent
Reflex, Biceps, Absent
Reflex, Anal, Absent
Psychomotor Impairment
Abnormal Deep Tendon Reflex
Non-epileptic convulsion
Single Seizure
Atonic Absence Seizures
Unilateral Hypotonia
Developmental Psychomotor Disorders
Bulbocavernosus Reflex, Decreased
Bulbocavernousus Reflex Absent
Palmo-Mental Reflex
Reflex, Anal, Decreased
Reflex, Ankle, Abnormal
Reflex, Ankle, Decreased
Reflex, Biceps, Abnormal
Reflex, Biceps, Decreased
Reflex, Gag, Decreased
Reflex, Knee, Abnormal
Reflex, Knee, Decreased
Reflex, Moro, Asymmetric
Reflex, Triceps, Abnormal
Reflex, Triceps, Decreased
Convulsive Seizures
Seizures, Focal
Seizures, Sensory
Mitochondrial Diseases
Calcification of coronary artery
Severe muscular hypotonia
Death in childhood
Posterior fossa cyst
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
Neonatal Hypotonia
Retrognathia
Nonepileptic Seizures
Convulsions
Absence Seizures
Epileptic Seizures
Myoclonic Seizures
Generalized Absence Seizures
Abdominal Pain
Arteriosclerosis
Atherosclerosis
Bipolar Disorder
Cardiovascular Diseases
Cerebral Infarction
Primary biliary cirrhosis
Cholesterol Ester Storage Disease
Cognition Disorders
Corneal Opacity
Coronary heart disease
Dermatitis
Eclampsia
Ectropion
Fatty Liver
Fatty Liver, Alcoholic
Fibrosarcoma
Primary angle-closure glaucoma
Glycogen Storage Disease Type I
Gout
Heart Diseases
Hepatosplenomegaly
Hypercholesterolemia
Hypercholesterolemia, Familial
Hyperinsulinism
Hyperlipidemia
Hyperlipoproteinemias
Hypertriglyceridemia
Influenza
Kidney Diseases
Lecithin Acyltransferase Deficiency
Lymphoproliferative Disorders
Malaria, Cerebral
Marijuana Abuse
Mental Retardation
Mesothelioma
Metabolic Diseases
Myeloproliferative disease
Nephroblastoma
Niemann-Pick Diseases
Severe mental retardation (I.Q. 20-34)
Splenomegaly
Syringomyelia
Tangier Disease
Thrombocytopenia
Low Vision
Wolman Disease
Xanthomatosis
Antiphospholipid Syndrome
Addictive Behavior
Left Ventricular Hypertrophy
Decreased circulating high-density lipoprotein levels
Hypocholesterolemia
Myocardial Ischemia
Dry skin
Lipid Metabolism Disorders
Atherosclerosis of aorta
Hemoglobin low
Malnutrition
Aortic Aneurysm, Abdominal
Smith-Lemli-Opitz Syndrome
Hepatoblastoma
Metastatic malignant neoplasm to brain
Niemann-Pick Disease, Type C
Dystrophia unguium
Abdominal discomfort
Memory impairment
Coronary Stenosis
Dyslipidemias
Xerosis
Coinfection
Rhinovirus infection
Xanthoma
Glaucoma, Primary Open Angle
Apolipoprotein A-I deficiency
Blurred vision
Disseminated Malignant Neoplasm
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Hemiplegia/hemiparesis
High density lipoprotein measurement
Non-alcoholic Fatty Liver Disease
Primary antiphospholipid syndrome
Corneal stromal opacities
Serum triglycerides raised
Hypoalphalipoproteinemias
Electromyogram abnormal
Lymphadenopathy
Clouding of corneal stroma
Lipids measurement
Metabolic Syndrome X
Carotid Atherosclerosis
Osteosarcoma of bone
Hashimoto Disease
Gastrointestinal pain
Decreased tendon reflex
Hyperlipoproteinemia Type IIa
Memory Loss
Tangier Disease Neuropathy
Endothelial dysfunction
Peripheral demyelination
Vascular inflammations
Genetic Diseases, Inborn
Drusen
Mild cognitive disorder
Metastasis from malignant tumor of prostate
Chronic myeloproliferative disorder
alpha^+^ Thalassemia
Tumor-Associated Vasculature
Geographic Atrophy
Atherogenesis
Hyperlipoproteinemia Type IIb
Hypoalphalipoproteinemia, Familial
Nail dysplasia
Facial diplegia
Impaired pain sensation
Distal amyotrophy
Accelerated atherosclerosis
Cloudy cornea
Chronic noninfectious lymphadenopathy
Progressive peripheral neuropathy
ATRICHIA WITH PAPULAR LESIONS
PITUITARY ADENOMA PREDISPOSITION (disorder)
Premature coronary artery disease
exudative macular degeneration
Allergic rhinitis (disorder)
Extramedullary Hematopoiesis (disorder)
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 13
Steatohepatitis
Nasopharyngeal carcinoma
Familial HDL deficiency
High density lipoprotein deficiency
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
Juvenile arthritis
response to statin
Placental Malformation
Visual Impairment
Neutrophilia (disorder)
Hdl Deficiency, Type 2
Pneumonitis
Juvenile rheumatoid arthritis
Impaired temperature sensation
Abnormality of the liver
Physical Activity Measurement
Accelerated plaque build-up in arteries
Orange discoloured tonsils
Small cell carcinoma of lung
Malignant neoplasm of brain
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Low grade glioma
Apnea
Bronchiectasis
Bronchopulmonary Dysplasia
Clubbed Fingers
Coughing
Dyspnea
Pathological accumulation of air in tissues
Heartburn
Hyaline Membrane Disease
Pulmonary Hypertension
Ichthyoses
Congenital ichthyosis
Leishmaniasis, Cutaneous
Persistent Fetal Circulation Syndrome
Pneumonia
Pseudoxanthoma Elasticum
Pulmonary Alveolar Proteinosis
Pulmonary Fibrosis
Rales
Respiration Disorders
Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Adult
Respiratory Tract Diseases
Hamman-Rich syndrome
Pneumonia, Interstitial
Lung Diseases, Interstitial
Childhood Acute Myeloid Leukemia
Dyspnea on exertion
Tachypnea
Desquamative interstitial pneumonia
Honeycomb lung
Respiratory distress
RR interval
Neonatal respiratory failure
Chronic interstitial lung disease
Respiratory Distress Syndrome
Respiratory Failure
Idiopathic Pulmonary Fibrosis
Lamellar ichthyosis, type 2
Abnormality of the cornea
Cataract microcornea syndrome
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neuroendocrine cell hyperplasia of infancy
Congenital Deficiency of Pulmonary Surfactant Protein B
Multiple Chronic Conditions
Interstitial lung fibrosis
Acid reflux
Ground-glass opacification on pulmonary HRCT
Reticular pattern on pulmonary HRCT
Sideroblastic anemia
Clonus
Cytopenia
Dysarthria
Movement Disorders
Babinski Reflex
Speech Disorders
Chagas Disease
Congenital anemia
Hereditary sideroblastic anemia
Cerebellar Dysmetria
Action Tremor
Dysdiadochokinesis
Ataxia, Sensory
Microcytic hypochromic anemia (disorder)
Ataxia, Motor
Iron Overload
Ataxia, Truncal
Abnormal coordination
Ataxia, Appendicular
Tremor, Rubral
Congenital cerebellar ataxia
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
Nonprogressive cerebellar ataxia
Terminal tremor
Abnormality of metabolism/homeostasis
Graves Disease
Hypersensitivity
Immune System Diseases
Lobar Pneumonia
Disease Exacerbation
Thyroid associated opthalmopathies
Experimental Lung Inflammation
Allergic Reaction
Brain Diseases
Choroid Diseases
Cleft Palate
Color vision defect
Disorder of eye
Gonorrhea
Hamartoma
Conductive hearing loss
Herpes NOS
Hyperglycemia
Hypogonadism
Macular degeneration
Muscular Dystrophy
Night Blindness
Ophthalmoplegia
Optic Atrophy
Toxoplasmosis, Congenital
Tuberous Sclerosis
Photophobia
Cataract
Scotoma, Central
Hereditary retinal dystrophy
Adrenoleukodystrophy
Cystadenocarcinoma, Serous
gliosarcoma
Abnormal color vision
Reduced visual acuity
Visual field constriction
Retinal damage
Harlequin Fetus
Microdontia (disorder)
Neurocutaneous Syndromes
Congenital anomaly of testis
Congenital hypoplasia of penis
Stargardt's disease
Blindness, Legal
Congenital infectious disease
Superficial ulcer
Hereditary macular dystrophy
Autosomal recessive retinitis pigmentosa
Leber Congenital Amaurosis
Night blindness, congenital stationary
Hematologic Neoplasms
Low intelligence
Blindness
Electroretinogram abnormal
Atrophic retina
Abnormal visual evoked potential
Pallor of optic disc
Cone dystrophy
Macular dystrophy
North Carolina macular dystrophy
Chloroquine retinopathy
Disorder of macula of retina
Retinal Dystrophies
Cholesterol gallstones
Retinal toxicity
Optic Atrophy, Hereditary, Leber
Mental deficiency
Cholecystolithiasis
Degenerative disorder
Hereditary Malignant Neoplasm
Lens Opacities
Retinal pigment epithelium atrophy
Retinal pigment epithelial abnormality
Extensively Drug-Resistant Tuberculosis
Bone spicule pigmentation of the retina
Macular pigmentary changes
Cleft palate, isolated
Stargardt disease 3
Broad flat nasal bridge
Anteverted nostril
Retinal pigment epithelial atrophy
Poor school performance
Paroxysmal involuntary eye movements
USHER SYNDROME, TYPE IB (disorder)
Nasal bridge wide
Mandibulofacial Dysostosis with Mental Deficiency
STARGARDT DISEASE 1 (disorder)
Retinal pigment epithelial mottling
Retinal Dystrophy, Early Onset Severe
CONE-ROD DYSTROPHY 3 (disorder)
Abnormality of retinal pigmentation
Stargardt disease 4
RETINITIS PIGMENTOSA 19
Photoreceptor degeneration
Uranostaphyloschisis
Attenuation of retinal blood vessels
Macular Degeneration, Age-Related, 2
Retinal thinning
Color vision defect, severe
Unspecified visual loss
Abnormal vision
Infection
Dull intelligence
Difficulties with night vision
Photodysphoria
Retinitis pigmentosa inversa
Atypical scarring of skin
Retinal astrocytic hamartoma
Aplasia/Hypoplasia of the macula
Abnormality of the retinal vasculature
Abnormality of macular pigmentation
Progressive night blindness
Abnormality of the choroid
Abnormality of the fovea
Chorioretinal atrophy
Yellow/white lesions of the macula
Cone-Rod Dystrophies
Loss in color vision
Blind spot located at fixation point
Juvenile macular degeneration
Abetalipoproteinemia
Primary Myelofibrosis
Bacterial Infections
Blast Phase
Bone Diseases, Developmental
Burkitt Lymphoma
Cerebral Palsy
Diarrhea
Diphtheria
Eosinophilia
Failure to Thrive
Fatigue
Fever
Gastritis
Congenital Heart Defects
Hematological Disease
Immunologic Deficiency Syndromes
Kidney Neoplasm
Acute Erythroblastic Leukemia
Lymphoid leukemia
Acute Megakaryocytic Leukemias
Acute biphenotypic leukemia
Leukemia, Myeloid, Accelerated Phase
Leukemia, Myeloid, Chronic-Phase
Leukemia, Myelomonocytic, Chronic
Chronic Neutrophilic Leukemia
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Adult T-Cell Lymphoma/Leukemia
Leukocytosis
Leukoencephalopathy, Progressive Multifocal
Monosomy
Myelofibrosis
Nail-Patella Syndrome
Neoplasms, Experimental
Osteosclerosis
Other ureteric obstruction
Plasmacytoma
Polycythemia
Polycythemia Vera
Precancerous Conditions
Retroviridae Infections
Rubella
Sezary Syndrome
Thrombocythemia, Essential
Thymoma
Werner Syndrome
Sweet Syndrome
Severe Combined Immunodeficiency
Acute leukemia
Monocytosis
Congenital musculoskeletal anomalies
Congenital heart disease
Granulocytic Sarcoma
Adenocarcinoma, Basal Cell
Adenocarcinoma, Oxyphilic
Carcinoma, Cribriform
Carcinoma, Granular Cell
Adenocarcinoma, Tubular
Idiopathic Hypereosinophilic Syndrome
Eosinophilic leukemia
Decrease in appetite
Gastrointestinal Stromal Tumors
Papillary thyroid carcinoma
Parkinsonian Disorders
Neoplasm, Residual
Mucosa-Associated Lymphoid Tissue Lymphoma
Carcinoma breast stage IV
Recurrent Childhood Acute Lymphoblastic Leukemia
relapsing chronic myelogenous leukemia
Philadelphia chromosome positive chronic myelogenous leukemia
Philadelphia chromosome negative chronic myelogenous leukemia
Adult T Acute Lymphoblastic Leukemia
Adult B Acute Lymphoblastic Leukemia
Adenocarcinoma Of Esophagus
Acute Undifferentiated Leukemia
stage, chronic myelogenous leukemia
secondary acute myeloid leukemia
Condition, Preneoplastic
Frontotemporal dementia
Large cell carcinoma of lung
Chronic eosinophilic leukemia
Pre B-cell acute lymphoblastic leukemia
Juvenile Myelomonocytic Leukemia
Hematopoietic Neoplasms
Decreased platelet count
Hereditary hemochromatosis
Amegakaryocytic thrombocytopenia
Symmetrical dyschromatosis of extremities
Overlap syndrome
Chromosome 8, trisomy
Enteropathy-Associated T-Cell Lymphoma
Progressive Neoplastic Disease
Refractory cancer
Adult Acute Lymphocytic Leukemia
Thrombocytosis
Leukemia secondary
Increased number of platelets
Leukaemia recurrent
Chronic leukemia (category)
Granulocytosis
Precursor T-cell lymphoblastic lymphoma
Precursor B-cell lymphoblastic leukemia
Chronic myelogenous leukemia, BCR/ABL positive
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Myelodysplastic-Myeloproliferative Diseases
Eosinophilic disorder
Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Childhood Leukemia
Thymic Lymphoma
Pediatric Neoplasm
refractory CML
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
CML progression
Malformations of Cortical Development, Group II
Familial primary gastric lymphoma
Acute lymphoblastic leukemia with lymphomatous features
Trichohepatoenteric Syndrome
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Neoplastic disease
Philadelphia chromosome-positive acute lymphoblastic leukemia
Loss of appetite (finding)
Leukemia, B-Cell
Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
T-Cell Prolymphocytic Leukemia
Promyelocytic leukemia
Mixed phenotype acute leukemia
Chronic myeloid leukemia, BCR/ABL-positive
Myeloid neoplasm
Progressive cGVHD
Triple Negative Breast Neoplasms
Pdgfra-Associated Chronic Eosinophilic Leukemia
LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
Splanchnic vein thrombosis
Abnormality of skeletal morphology
Abnormality of basophils
Renal medullary carcinoma
Ph-Like Acute Lymphoblastic Leukemia
Malignancy
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Food Allergy
Cardiomegaly
Klinefelter Syndrome
Rhinitis
Migraine Disorders
Clear Cell Sarcoma of Soft Tissue
Klinefelter's syndrome - male with more than two X chromosomes
Cardiac Hypertrophy
Azoospermia
Squamous cell carcinoma of lung
Mitochondrial Encephalomyopathies
Alpers Syndrome (disorder)
Pancreatic Ductal Adenocarcinoma
beta^+^ Thalassemia
Airway Obstruction
Anemia, Sickle Cell
Atrial Fibrillation
Autoimmune Diseases
Blood Group Incompatibility
Carcinoma, Transitional Cell
Choriocarcinoma
Coccidioidomycosis
Curling Ulcer
Cytomegalovirus Infections
Dengue Fever
Duodenal Ulcer
Erythroblastosis, Fetal
Gastritis, Atrophic
Glaucoma, Open-Angle
Graft-vs-Host Disease
Hemolytic-Uremic Syndrome
Hyperbilirubinemia
Neonatal Jaundice
Malaria, Falciparum
Multiple Endocrine Neoplasia Type 1
Meningococcal Infections
Obsessive-Compulsive Disorder
Peptic Ulcer
Platelet Count measurement
Pure Red-Cell Aplasia
Rheumatic Heart Disease
Sickle Cell Trait
Gastric ulcer
Stress, Psychological
Ulcer
Venous Thrombosis
Vitiligo
von Willebrand Disease
Vulvovaginitis
Wheezing
Essential Hypertension
Alcohol abuse
Liver Failure, Acute
Alkaline phosphatase measurement
Protein measurement
Waist-Hip Ratio
Angiomyolipoma
Neuroendocrine Tumors
Hemolytic reaction
Hereditary pancreatitis
Angiomyolipoma of kidney
Parasitemia
Recurrent urinary tract infection
Childhood asthma
Tricho-dento-osseous syndrome (disorder)
Acute gastroenteritis
Congenital glucose-galactose malabsorption
bilateral breast cancer
Erythrocyte Mean Corpuscular Hemoglobin Test
Nasal Type Extranodal NK/T-Cell Lymphoma
Mean corpuscular hemoglobin concentration determination
Hemoglobin measurement
Mean Corpuscular Volume (result)
Factor V Leiden mutation
Malignant neoplasm of gastrointestinal tract
Acute Cerebrovascular Accidents
Infection caused by Helicobacter pylori
Arteriopathic disease
Acute GVH disease
ABO incompatibility
Infectious disease of lung
Cerebral Ischemia
precancerous lesions
Acute Coronary Syndrome
Alloimmunisation
Invasive Ductal Breast Carcinoma
Coagulation factor measurement
Finding of Mean Corpuscular Hemoglobin
von Willebrand Disease, Type 1
Adult Lymphoma
Childhood Lymphoma
Sporadic Breast Carcinoma
Cardiomyopathy, Familial Idiopathic
Overweight and obesity
Tendinopathy
Distal Renal Tubular Acidosis
NEUROTICISM
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
Venous Thromboembolism
TARSAL-CARPAL COALITION SYNDROME
Cardiac Carcinoma
von Willebrand's factor (lab test)
Deficiency of glucose-6-phosphate dehydrogenase
GASTRIC CANCER, INTESTINAL
Diminished ovarian reserve
Neonatal Alloimmune Thrombocytopenia
Soluble Interleukin 6 Receptor Measurement
Medulloblastoma
Neuroectodermal Tumor, Primitive
Miller Dieker syndrome
Juvenile Pilocytic Astrocytoma
Anaplastic astrocytoma
Tumor Angiogenesis
Hereditary Diseases
Ketosis
Deficiency of acetyl-CoA acetyltransferase
Zellweger Spectrum
Anxiety
Anxiety Disorders
Cachexia
Celiac Disease
Patent ductus arteriosus
Gingivitis
Glycogen storage disease type II
Hypertrichosis
Left-Sided Heart Failure
Pain
Pemphigus Vulgaris
Pheochromocytoma
Precocious Puberty
Turner Syndrome
Ovarian Failure, Premature
Primary Sjögren's syndrome
Growth retardation
Adrenal Cortical Adenoma
Follicular thyroid carcinoma
Adrenocortical carcinoma
Heart Failure, Right-Sided
Alcohol or Other Drugs use
Acetyl-CoA: carboxylase deficiency
Aplasia Cutis Congenita
Triploidy syndrome
Growth delay
myeloblastosis
Corpus callosum agenesis neuronopathy
Beta thalassemia trait
Growth failure
Hospital acquired pneumonia
Atypical Teratoid Rhabdoid Tumor
Poor growth
Myocardial Failure
Heart Decompensation
aggressive cancer
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
Very poor growth
Adenoid Cystic Carcinoma
Insulin Resistance
Obesity, Morbid
Malignant neoplasm of salivary gland
Adenocarcinoma of salivary gland
Insulin Sensitivity
Hypertrophic Cardiomyopathy
Hypoglycemia
Vomiting
Long chain acyl-CoA dehydrogenase deficiency
Hyperammonemia
Muscular stiffness
Myalgia
Feeding difficulties
Liver and Intrahepatic Biliary Tract Carcinoma
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Acylcarnitines measurement
Generalized muscle weakness
Myasthenias
Carnitine deficiency
Exercise-induced myoglobinuria
Hepatocellular necrosis
Dicarboxylic aciduria
Exercise-induced myoglobinuria in adults
Mild expressive language delay
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Exercise-induced rhabdomyolysis
EMG: myopathic abnormalities
Elevated creatine kinase after exercise
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Arthrogryposis
Cerebral Edema
Comatose
Rhabdomyolysis
Sudden infant death syndrome
Weight Gain
Liver Failure
Liver Dysfunction
Liver function tests abnormal finding
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Metabolic acidosis
Elevated liver enzymes
Indolent Systemic Mastocytosis
Glycinuria
Liver enzymes abnormal
Transaminases increased
Necrotizing Enterocolitis
HYPERGLYCINURIA (disorder)
Anaphylaxis (non medication)
Increased liver function tests
Brain Edema
Subclinical abnormal liver function tests
Elevated hepatic transaminases
Medium chain dicarboxylic aciduria
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2
Contracture
Contracture of joint
Language Delay
Prader-Willi Syndrome
Curvature of spine
Speech impairment
Speech Delay
Acyl-CoA dehydrogenase deficiency
Flexion contracture
Deficiency of butyryl-CoA dehydrogenase
Bell Palsy
Facial Paresis
Delayed speech and language development
Acquired scoliosis
Leukoaraiosis
Flexion contractures of joints
Neonatal onset
Facial muscle weakness of muscles innervated by CN VII
Episodic metabolic acidosis
Ethylmalonic aciduria
Feeding difficulties in infancy
Cortical white matter abnormalities seen on MRI
Exotropia
Hypothermia, natural
Generalized amyotrophy
Motor delay
2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-methylbutyrylglycinuria
Apneic episodes in infancy
No development of motor milestones
Anoxemia
Anoxia
Cardiac Arrest
Pericardial effusion
Protein Deficiency
Sudden Cardiac Death
Elevated creatine kinase
Muscle Weakness
Creatine phosphokinase serum increased
Hypoxia
Hypoxemia
Exercise-induced myalgia
Nonketotic hypoglycemia
Trifunctional Protein Deficiency With Myopathy And Neuropathy
Alopecia
Dehydration
Dry Eye Syndromes
Leptospirosis
Inborn Errors of Metabolism
Septicemia
Uterine Cancer
Aortic Aneurysm, Thoracic
Sepsis
Tyrosinemia, Type I
Hepatic methionine adenosyltransferase deficiency
Ketotic hypoglycemia
Conventional (Clear Cell) Renal Cell Carcinoma
Dryness of eye
Deficiency of acetyl-CoA acyltransferase (disorder)
Metastatic Prostate Carcinoma
Chromophobe Renal Cell Carcinoma
Epithelioma
Mammary Tumorigenesis
Pneumocystis jiroveci pneumonia
Episodic ketoacidosis
Clear-cell metastatic renal cell carcinoma
Nonalcoholic Steatohepatitis
Mammary adenocarcinoma
Hypermethioninemia
Cytosolic acetoacetyl-CoA thiolase deficiency
Chronic Kidney Diseases
Increased serum lactate
Increased serum pyruvate
Narcolepsy
Panic Disorder
Electrocardiogram: P-R interval
PR interval feature
PANIC DISORDER 1
response to ACE inhibitor
Brain Ischemia
Injuries, Acute Brain
Migraine with Aura
Lesion of brain
Brain Injuries
Brain Lacerations
Interstitial Cystitis
Brain Injuries, Focal
Chronic interstitial cystitis
Multiple Sclerosis, Primary Progressive
Progressive multiple sclerosis
Refractory anaemia with excess blasts
Blood Platelet Disorders
Cataplexy
Congenital Hypothyroidism
Gerstmann-Straussler-Scheinker Disease
Growth Disorders
Hepatic Coma
Hypothyroidism
Creutzfeldt-Jakob disease
Lambert-Eaton Myasthenic Syndrome
Learning Disorders
Acute myelomonocytic leukemia
Memory Disorders
Myasthenia Gravis
orbit (eye disorders)
Other acute reactions to stress
Paresis
Poisoning
Schwartz-Jampel Syndrome
Thanatophoric Dysplasia
Thymus Hyperplasia
Tremor
Saturnine Tremor
Weil Disease
Prenatal Injuries
Senile Tremor
Centronuclear myopathy
Myopathies, Nemaline
Teratocarcinoma
Fatigability
Persistent Tremor
Continuous Tremor
Intermittent Tremor
Fine Tremor
Coarse Tremor
Massive Tremor
Passive Tremor
Static Tremor
Resting Tremor
Darkness Tremor
Neurologic Symptoms
Tremor, Perioral
Tremor, Limb
Tremor, Muscle
Nerve Tremors
Tremor, Neonatal
Amphetamine-Related Disorders
Amphetamine Addiction
Amphetamine Abuse
Isaacs syndrome
Pyloric Atresia
Etat Marbre
Absence of sensation
Congenital Varicella Syndrome
Congenital goiter
Organophosphorus Poisoning
Slow channel syndrome
X-linked centronuclear myopathy
Acute monoblastic leukemia
Pallidopontonigral degeneration
Myasthenic Syndrome
Organophosphate poisoning
Anxiety state
Adult Learning Disorders
Learning Disturbance
Learning Disabilities
Age-Related Memory Disorders
Memory Disorder, Semantic
Memory Disorder, Spatial
Familial Olivopontocerebellar Atrophy
Pill Rolling Tremor
Tremor, Semirhythmic
Myasthenic Syndromes, Congenital
Neuromuscular Junction Diseases
Cerebral Arteriosclerosis
Sarcomatoid Renal Cell Carcinoma
Collecting Duct Carcinoma of the Kidney
Anxiety neurosis (finding)
Inflammatory disorder
Papillary Renal Cell Carcinoma
Developmental Academic Disorder
Involuntary Quiver
Cirrhosis
RESTING HEART RATE
ALZHEIMER DISEASE 2
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
Refractory anemia, without ringed sideroblasts, without excess blasts
Organothiophosphonate Poisoning
Organothiophosphate Poisoning
oligodendroglioma
Invasive aspergillosis
Juvenile Neuronal Ceroid Lipofuscinosis
Well Differentiated Oligodendroglioma
Hemochromatosis
Neoplasm Invasiveness
Pregnancy in Diabetics
Toxoplasmosis
Osteoarthrosis Deformans
Iron deficiency anemia
Anemia, severe
Iron deficiency
Hyperferritinemia, hereditary, with congenital cataracts
Arthritis
Fibromyalgia
Lupus Vulgaris
Lupus Erythematosus, Discoid
Multiple adenomatous polyps
Lupus Erythematosus
Athetosis
insulinoma
Disorder of the optic nerve
Strabismus
Color Blindness, Red-Green
Cerebellar degeneration
Peripheral demyelinating neuropathy
Scotoma, Paracentral
Fumarase deficiency
Depletion of mitochondrial DNA
Hypoplasia of corpus callosum
Cerebellar atrophy
Severe global developmental delay
Progressive microcephaly
Severe psychomotor retardation
Red/green color vision defect
INFANTILE CEREBELLAR-RETINAL DEGENERATION
Optic Neuropathy
Infratentorial atrophy
OPTIC ATROPHY 9
Alloxan Diabetes
Deglutition Disorders
Diabetes Mellitus, Experimental
Dystonia
Orbital separation excessive
Hypodontia
Muscle Hypertonia
Myopia
Respiratory Insufficiency
Streptozotocin Diabetes
Electroencephalogram abnormal
Frontal bossing
Brachycephaly
Low set ears
Inversion of nipple (disorder)
Peroxisomal Disorders
Central nervous system demyelination
Fish-Eye Disease
Sensorineural hearing loss, bilateral
Gait abnormality
Congenital Epicanthus
Systolic Pressure
Deficiency of oxidase
Depressed nasal bridge
Loss of developmental milestones
Developmental regression
Decreased light- and dark-adapted electroretinogram amplitude
Death in early childhood
Intellectual disability, progressive
Peroxisomal ACYL-COA oxidase deficiency
No social interaction
Diffuse hepatic steatosis
Psychomotor regression, progressive
Psychomotor regression in infants
Psychomotor regression
Psychomotor regression beginning in infancy
Neurodevelopmental regression
Death in infancy
Mental deterioration in childhood
Adult-onset citrullinemia type 2
Irritation - emotion
Depressed nasal root/bridge
Respiratory function loss
Dystonic disease
Abnormality of nervous system morphology
Broad cranium shape
Wide skull shape
Concave bridge of nose
Spontaneous abortion
Developmental Disabilities
Colitis
Dwarfism
Favism
Fibroid Tumor
Noonan Syndrome
Parasitic Diseases
Turner Syndrome, Male
Uterine Fibroids
Polycystic Kidney, Autosomal Dominant
Pyoderma Gangrenosum
Autoimmune thyroid disease
Congenital anomaly of face
Acrokeratoelastoidosis of Costa
Lafora Disease
Completed Suicide
Autoimmune thyroiditis
Metastatic Neoplasm
Myopathy, familial idiopathic inflammatory
Opisthotonus
Acid Phosphatase Deficiency
Bleeding tendency
Cooley's anemia
Aortic Valve Stenosis
Bone Diseases
Cherubism
Distemper
Gaucher Disease
Hyperparathyroidism, Secondary
Kyphosis deformity of spine
Hairy Cell Leukemia
Leukemia, T-Cell
Little's Disease
Lordosis
Reticulosarcoma
Micromelia
Microphthalmos
Monoclonal Gammopathy of Undetermined Significance
Osteochondrodysplasias
Osteogenesis Imperfecta
Osteopetrosis
Osteoporosis, Postmenopausal
Osteosarcoma
Purpura
Renal Osteodystrophy
Restrictive lung disease
Chronic pain
Giant Cell Tumor of Bone
Gastrointestinal Carcinoid Tumor
Tophus
bone destruction
Late tooth eruption
Autoimmune thrombocytopenia
Giant Cell Tumor of Soft Tissue
Immune thrombocytopenic purpura
Skeletal dysplasia
Narrow nose
Spondyloenchondrodysplasia
Combined immunodeficiency
Hepatitis B, Chronic
Kyphoscoliosis deformity of spine
Recurrent sinusitis
Strudwick syndrome
Recurrent otitis media
Idiopathic thrombocytopenia
Monoclonal Gammapathies
Lumbar hyperlordosis
Hyperplastic obesity
Metaphyseal irregularity
Abnormal form of the vertebral bodies
Irregular vertebral endplates
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Hypermelanotic macule
Immune dysregulation
Platyspondyly
Hyperkyphosis
Cellular immunodeficiency
Progressive spastic quadriplegia
Rhizomelia
Tubulointerstitial fibrosis
T-Lymphocytopenia
Restrictive ventilatory defect
Granulomatosis with polyangiitis
Metaphyseal sclerosis
Recurrent respiratory infections
Skin Erosion
Abnormality of epiphysis morphology
Large iliac wings
Hypopigmented skin patches on arms
Abnormality of the metaphysis
Recurrent sinus disease
Tubulointerstitial scarring
Breast Cyst
Breast Diseases
prostatitis
Pyelonephritis
Androgen-Insensitivity Syndrome
Juvenile-Onset Still Disease
Acute onset pain
Cervical Intraepithelial Neoplasia
Adenocarcinoma in Situ
Angioendotheliomatosis
Human papilloma virus infection
Acute pyelonephritis
Tumor Initiation
Hyperalgesia, Thermal
Small Lymphocytic Lymphoma
androgen independent prostate cancer
Non-medullary thyroid carcinoma
Juvenile psoriatic arthritis
Severe Acute Respiratory Syndrome
Blepharoptosis
Cardiomyopathy, Dilated
Atrial Septal Defects
Polyhydramnios
Neuromuscular Diseases
Torticollis
HMN (Hereditary Motor Neuropathy) Proximal Type I
Spasmodic torticollis
Proximal muscle weakness
Wristdrop
Waddling gait
Gowers sign
Weak cry
Reduced fetal movement
Difficulty walking up stairs
Hand muscle atrophy
Progressive muscle weakness
Neck muscle weakness
Byzanthine arch palate
Congenital myopathy (disorder)
Zebra body myopathy
Floppy infant syndrome
Secondary myopathy
Myopathic facies
Flexion contracture - elbow
Flexion contracture of hip
Eichsfeld type congenital muscular dystrophy
Tubular Aggregate Myopathy
Contracture of tendo achilles
Contracture of hamstring(s)
Mask-like facies
Lung function testing abnormal
Autophagic vaculoes (finding)
Nemaline Myopathy, Childhood Onset
Congenital Fiber Type Disproportion
Gowers sign present
Muscle weakness of limb
Congenital muscular dystrophy (disorder)
Distal Muscular Dystrophies
Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Recessive
Congenital Structural Myopathy
Frequent falls
Cervical Dystonia
Cardiomyopathy, Hypertrophic, Familial
Bulbar weakness
contracture of elbow
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Myopathy, Centronuclear, Autosomal Dominant
Poor head control
Long face
Muscle fiber splitting
Narrow face
Proximal neurogenic muscle weakness
Centrally nucleated skeletal muscle fibers
Cardiac conduction abnormality
Neck flexor weakness
Axial muscle weakness
Increased variability in muscle fiber diameter
Thin face
Mildly elevated creatine phosphokinase
Slender build
Muscle fiber necrosis
NONAKA MYOPATHY
Rimmed vacuoles on biopsy
Type 1 muscle fiber predominance
Spinal rigidity
Increased connective tissue
Reduced tendon reflexes
Handgrip myotonia
Pectus excavatum
Myofibrillar Myopathy
Nemaline Myopathy 3, With Intranuclear Rods
Myopathy, Actin, Congenital, With Cores
Scapuloperoneal myopathy
Autosomal Recessive Centronuclear Myopathy
Autosomal Dominant Myotubular Myopathy
Cap Myopathy
Intranuclear Rod Myopathy
Actin-Accumulation Myopathy
Respiratory insufficiency due to muscle weakness
Nemaline bodies
EMG: neuropathic changes
Acute infantile spinal muscular atrophy
Late-onset distal muscle weakness
Type 1 fibers relatively smaller than type 2 fibers
Bulbar palsy
MYOPATHY, SCAPULOHUMEROPERONEAL
Aneurysm
Aortic Aneurysm
Aortic Diseases
Aortic Valve Insufficiency
Cholestasis, Extrahepatic
Chest Pain
Cholangitis, Sclerosing
Connective Tissue Diseases
Cryptorchidism
Dupuytren Contracture
Dyspnea, Paroxysmal
Ehlers-Danlos Syndrome
Focal glomerulosclerosis
Heart Septal Defects
Hepatitis, Chronic
Marfan Syndrome
Moyamoya Disease
Mydriasis
Ankylosing spondylitis
Telangiectasis
Meningitis, Cryptococcal
Hyalinosis, Segmental Glomerular
Chronic Persistent Hepatitis
Bicuspid aortic valve
Congenital malrotation of intestine
Increased peristalsis
Aortic root dilatation
acute aortic dissection
Cutis marmorata
Endometrioma
Retinal infarction
Aortic Aneurysm, Thoracoabdominal
Dissection of aorta
Ascending aorta dilatation
Congenital aneurysm of ascending aorta
Cystic medial necrosis of aorta
Increase in blood pressure
Cryptogenic Chronic Hepatitis
Impaired left ventricular function
Brain Aneurysm
Adenocarcinoma of lung, stage IV
Stomach churning
Cerebral Aneurysm
Spider Veins
Cerebral arterial aneurysm
Mydriasis, Congenital
Familial (FPAH)
Nephrogenic Fibrosing Dermopathy
Aortic aneurysm and dissection
Ascending aortic dissection
Aortic Aneurysm, Familial Thoracic 2
Copper-Overload Cirrhosis
Cakut
Aortic Aneurysm, Familial Thoracic 6
Moyamoya disease 1
Pulmonary arterial hypertension
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
Idiopathic pulmonary arterial hypertension
Dilated ventricles (finding)
MOYAMOYA DISEASE 5
Patent ductus arteriosus - persisting type
AORTIC VALVE DISEASE 2
RIENHOFF SYNDROME
Abnormality of the cerebral vasculature
Descending aortic dissection
Moyamoya phenomenon
Abnormality of the iris
Obstructive Ureterocele
Dupuytren's Disease
Periventricular white matter hyperdensities
Ectasia of thoracic aorta
Dilatation of the cerebral artery
Aphasia
Ataxia Telangiectasia
Barrett Esophagus
Carcinoma
Bronchogenic Carcinoma
Noninfiltrating Intraductal Carcinoma
Choroideremia
Congenital ocular coloboma (disorder)
Craniosynostosis
Dysostoses
Echolalia
Encephalitis Lethargica
Epilepsy, Temporal Lobe
Esophageal Achalasia
Fetal Alcohol Syndrome
Gastrinoma
Hepatitis, Alcoholic
Hodgkin Disease
Hydronephrosis
Hyperthyroidism
Kartagener Syndrome
Leukodystrophy, Metachromatic
Low Birth Weights
Lymphopenia
Macroglossia
Macrostomia
Animal Mammary Neoplasms
Mammary Neoplasms, Experimental
Meniere Disease
Micrognathism
Mild Mental Retardation
Spinal Muscular Atrophy
Mutism
Osteochondrosis
Pituitary Adenoma
Pituitary Diseases
Polycystic Ovary Syndrome
Ptosis
Rett Syndrome
Sarcoidosis
Seminoma
Post-Traumatic Stress Disorder
Rous Sarcoma
Thyroid Gland Follicular Adenoma
Retinoschisis
Old myocardial infarction
Streptococcal pneumonia
Peritoneal adhesion
Cleft palate with cleft lip
Congenital pectus carinatum
Joint stiffness
HELLP Syndrome
Follicular adenoma
Anaplastic carcinoma
Carcinoma, Spindle-Cell
Undifferentiated carcinoma
Carcinomatosis
Mental deterioration
Small for gestational age (disorder)
High forehead
Coloboma of iris
Fundus coloboma
Carcinoma, Small Cell
Parathyroid Adenoma
Pigmented hairy epidermal nevus
Rotator cuff syndrome
Trigonocephaly
Cranioschisis
Accessory nipple
Lissencephaly
Polymicrogyria
Pachygyria
Qualitative abnormality of granulocyte
Late fontanel closure
Phosphate Diabetes
High altitude pulmonary edema
Craniofacial Abnormalities
Dystonia, Paroxysmal
Dystonia Disorders
Dystonia, Diurnal
Telecanthus
Heterochromia iridis
Small nose
Large nose
Wide nose
Large fontanelle
Secondary malignant neoplasm of liver
Congenital neurologic anomalies
Short neck
Dilatation of ureter
Hepatitis C, Chronic
Thin lips
Stage IV Colorectal Cancer
Hypophosphatemic Rickets, X-Linked Dominant
Dystonia, Limb
Malignant neoplasm tonsil
Hypoxic-Ischemic Encephalopathy
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Invasive carcinoma of breast
Dysphasia
Endometrial adenocarcinoma
Ductal Carcinoma
Mammary Carcinoma, Animal
Lipoatrophy
Congenital euryblepharon
Astrocytoma, low grade
Infiltrating Cervical Carcinoma
Hypertrophy of nose
Sensory hearing loss
Overfolded helix
Cerebrofrontofacial Syndrome
Long nose
Pointed chin
Coarse facial features
Juvenile-onset dystonia
Externally rotated hips
Hypoplastic scapulae
Shoulder girdle muscle atrophy
Generalized dystonia
Long palpebral fissure
Fryns-Aftimos Syndrome
Short nose
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Low posterior hairline
Hypoplastic mandible condyle
Short columella
Prominent metopic ridge
Becker Nevus Syndrome
Depressed nasal tip
Postnatal growth retardation
Long philtrum
Thin upper lip vermilion
Full cheeks
Highly arched eyebrow
Agyria
Malformations of Cortical Development
Regurgitation
Psychomotor retardation, mild
Severe hypoxic ischemic encephalopathy
Chubby cheeks
Stage IV Colorectal Cancer AJCC v7
Familial Hypophosphatemic Rickets
Vitamin D-Resistant Rickets, X-Linked
Puffy cheeks
Canine Osteosarcoma
Mild global developmental delay
Bowed and upward slanting eyebrows
Uroureter
Oral cleft
Death in early adulthood
Cerebral cortical hemiatrophy
Subcortical cerebral atrophy
Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the mandible
Specific learning disability
Large bregma sutures
Large, late-closing fontanelle
Wide bregma sutures
Thickened facial skin with coarse facial features
Chronic alcoholic liver disease
Kabuki syndrome eyelids
Repeated speech
Abnormal skeletal development
Hypoplasia of columella
Hyperplasia of nose
Hypertrophy of cheeks
Hyperplasia of cheeks
Wedge shaped head
Triangular head shape
Decreased projection of lower jaw
Decreased projection of mandible
Retrusion of lower jaw
Aortopulmonary Septal Defect
Chagas Cardiomyopathy
Absence Epilepsy
Muscle Rigidity
Atrial Premature Complexes
Refractive Errors
Conduction disorder of the heart
Familial dilated cardiomyopathy
Ostium secundum atrial septal defect
Rigor - Temperature-associated observation
Ametropia
Hereditary Diffuse Gastric Cancer
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
Left ventricular noncompaction
Cardiomyopathy, Familial Hypertrophic, 11
Atrial Septal Defect 5
CARDIOMYOPATHY, DILATED, 1R
LEFT VENTRICULAR NONCOMPACTION 4
Left ventricular noncompaction cardiomyopathy
Osteoporosis, Age-Related
Neoplastic Cell Transformation
Osteoporosis
Osteoporosis, Senile
Viremia
Congenital coloboma of iris
Simple ear
Post-Traumatic Osteoporosis
Abnormality of the pinna
Pelvic Organ Prolapse
Immune Reconstitution Inflammatory Syndrome
Progressive sensorineural hearing impairment
Deafness, Autosomal Dominant 20
BARAITSER-WINTER SYNDROME 2
Young adult onset
Nonsyndromic Deafness
Abdomen distended
Cholestasis
Fibrosis
Intestinal Pseudo-Obstruction
Nausea and vomiting
Vesico-Ureteral Reflux
Visceral Myopathy
Decreased peristalsis
Chronic intestinal pseudo-obstruction
Microcolon
Visceral Myopathy, Familial
Cholestasis of pregnancy
Congenital dilatation of bladder
Disorder of smooth muscle
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum and-or Megacystis
LATERAL MENINGOCELE SYNDROME
Megacystis
LIMB-MAMMARY SYNDROME
Visceral Neuropathy, Familial, Autosomal Dominant
Fetal megacystis
Secondary Neoplasm
Microcolon on contrast enema
Multicystic Dysplastic Kidney
Intestinal hypoperistalsis
Aplasia/Hypoplasia of the abdominal wall musculature
Edema
IGA Glomerulonephritis
Nephrosclerosis
Lipoid nephrosis
Proteinuria
Kidney Failure
AIDS-Associated Nephropathy
Malignant neoplasm of tongue
Glomerulosclerosis (disorder)
Adenocarcinoma, Clear Cell
Congenital contractural arachnodactyly
Fallopian Tube Carcinoma
Renal sclerosis with hypertension
Body fluid retention
Renal glomerular disease
Diffuse mesangial sclerosis (disorder)
Stage IV Ovarian Carcinoma
Segmental glomerulosclerosis
Steroid-resistant nephrotic syndrome
Salcedo syndrome
Nephrotic syndrome, focal and segmental glomerular lesions
Fibrosing disease
Tongue Carcinoma
Secondary malignant neoplasm of lymph node
Nephronophthisis
Adenocarcinoma of lung, stage I
Decreased albumin
Carcinoma, Pancreatic Ductal
Salivary gland carcinoma
Liver Dysplastic Nodule
Invasive Skin Melanoma
Primary Focal Segmental Glomerulosclerosis
Hypomagnesemia 1, Intestinal
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
Collapsing glomerulopathy
Nephrotic syndrome with focal and segmental hyalinosis
Nephrotic syndrome with focal and segmental sclerosis
Nephrotic syndrome with focal glomerulonephritis
Autosomal dominant focal segmental glomerulosclerosis
Steroid resistant nephrotic syndrome of childhood
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Platelet mean volume determination (procedure)
Carcinoma, Endometrioid
Anisocytosis
Platelet distribution width measurement
Increased mean platelet volume
Platelet distribution width result
Pneumonia, Ventilator-Associated
Macrothrombocytopenia
BLEEDING DISORDER, PLATELET-TYPE, 15
Autosomal dominant macrothrombocytopenia
Dental caries
Endocardial Fibroelastosis
Trichomonas Infections
Caries (morphologic abnormality)
Endomyocardial Fibrosis
Cardiomyopathy, Dilated, 1AA
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION
Glycogen Storage Disease Type V
Generalized glycogen storage disease of infants
Muscle damage
Sarcopenia
Bunion
Deafness
Endocardial Cushion Defects
Fibrodysplasia Ossificans Progressiva
Hallux Valgus
Hearing Loss, Partial
Myositis Ossificans
Subcutaneous nodule
Acquired hallux valgus
Subependymal Giant Cell Astrocytoma
Acute Lung Injury
mixed gliomas
Congenital hallux valgus
Diffuse Astrocytoma
Protoplasmic astrocytoma
Gemistocytic astrocytoma
Fibrillary Astrocytoma
Pilocytic Astrocytoma
Childhood Cerebral Astrocytoma
Congenital deafness
Partial atrioventricular canal
Mixed oligoastrocytoma
Malignant Glioma
Brain Stem Glioma
Multiple, subcutaneous nodules
Cerebral Astrocytoma
Intracranial Astrocytoma
Posterior subcapsular cataract
Atypical Lipoma
Congenital malformation syndrome
Childhood Brain Stem Neoplasm
Grade I Chondrosarcoma
Atrioventricular Septal Defect
Grade I Astrocytoma
Neonatal Deformity
Abnormal vertebral morphology
Widely spaced teeth
Broad femoral neck
Metaphyseal widening
Short 1st metacarpal
Clinodactyly of the 5th finger
Progressive cervical vertebral spine fusion
Small cervical vertebral bodies
Limitation of joint mobility
Short hallux
Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement
Diffuse Intrinsic Pontine Glioma
Multiple vertebral anomalies
Abnormal vertebral bodies
Ectopic ossification in ligament tissue
Ectopic ossification in tendon tissue
Ectopic ossification in muscle tissue
Aplasia/Hypoplasia of the phalanges of the hallux
Abnormality of the first metatarsal bone
Curvature of little finger
Pituitary Neoplasms
Neutrophil count (procedure)
Eosinophil count procedure
Blood basophil count (lab test)
Eosinophil count result
Granulocyte count
Pancreatic Intraductal Papillary-Mucinous Neoplasm
Chondrosarcoma
Enchondromatosis
Hereditary Multiple Exostoses
Gastrointestinal Neoplasms
Marinesco-Sjogren syndrome
Pierre Robin Syndrome
Uric acid measurement (procedure)
Osteochondromatosis
Endometriosis of uterus
Microsatellite Instability
Cervical Squamous Intraepithelial Neoplasia
Replication Error Phenotype
Dextrocardia
Ventricular Septal Defects
Premature Obstetric Labor
Premature Menopause
Right aortic arch (disorder)
Situs Inversus
Thalassemia
Asplenia Syndrome
Polysplenia Syndrome
Ectopic spleen
Situs ambiguus
Isomerism of atrial appendages
Beta thalassemia intermedia
Situs ambiguous
Nephrogenic rest
ATRIOVENTRICULAR CANAL DEFECT
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 1, X-LINKED
Heterotaxy, Visceral, 3, Autosomal
Polyasplenia
VAH, AUTOSOMAL RECESSIVE
Heterotaxy, Visceroatrial, Autosomal Recessive
Isomerism of atrial appendages with asplenia or polysplenia
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
Heterotaxy Syndrome
Right Atrial Isomerism
Left Atrial Isomerism
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
Ciliopathies
Congenital arteriovenous malformation
Brain Abscess
Intracranial Arteriovenous Malformation
Cholecystitis
Cyanosis
Epistaxis
Hemangioma, Cavernous
Hematemesis
Hematochezia
Hypertension, Portal
White Blood Cell Count procedure
Melena
Pulmonary Veno-Occlusive Disease (disorder)
Scimitar Syndrome
Dermatologic disorders
Hereditary hemorrhagic telangiectasia
Peripheral T-Cell Lymphoma
Angiodysplasia
Iron-Refractory Iron Deficiency Anemia
Clubbing
Intracranial Hemorrhages
Idiopathic pulmonary hypertension
Vascular anomaly
Monocyte count procedure
Ki-1+ Anaplastic Large Cell Lymphoma
Conjunctival telangiectasis
Angiodysplasia of colon
Inflammatory Myofibroblastic Tumor
Arteriovenous hemangioma
Sporadic primary pulmonary hypertension
Familial primary pulmonary hypertension
Juvenile polyposis syndrome
Spinal arteriovenous malformation
Thromboxane synthetase deficiency
Right to left cardiovascular shunt (finding)
Platelet hematocrit measurement
Feces color: tarry
Arteriovenous malformation of liver
Brain hemorrhage
Gastrointestinal arteriovenous malformation
Intermittent migraine headaches
Monocyte count result
Dural Arteriovenous Fistula
Gastrointestinal angiodysplasia
Arteriovenous Malformations, Cerebral
Transient Cerebral Ischemia
Systemic Anaplastic Large Cell Lymphoma
Erythrocytosis
Gastrointestinal telangiectasia
Spontaneous hematomas
Familial pulmonary arterial hypertension
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION
OSLER-RENDU-WEBER SYNDROME 2
Nail bed telangiectasia
Pulmonary arteriovenous malformation
Lip telangiectasia
Palate telangiectasia
Fingerpad telangiectases
Polyglobulia
Congenital vascular anomaly
Choriocapillaris atrophy
Spontaneous, recurrent epistaxis
Vascular Remodeling
Pulmonary Arterial Remodeling
Visceral angiomatosis
Telangiectasia of the skin
Nasal mucosa telangiectasia
Tongue telangiectasia
Palatal spider veins
Angioectasias of the tongue
Spider veins of the lip
Angioectasias of the lip
Frequent nosebleeds
Adenocarcinoma of prostate
Biotinidase Deficiency
Acute encephalopathy
Aminoacylase 1 deficiency
Delayed CNS myelination
Chronic osteomyelitis
Sudden Cardiac Arrest
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
Autoimmune hemolytic anemia
Anemia, Hemolytic, Congenital
Cockayne Syndrome
Exfoliative dermatitis
Hemorrhage
Hydatidiform Mole
Hyperemia
Leishmaniasis
Lymphocytosis
Measles
Pancytopenia
Paranasal Sinus Diseases
Peyronie Disease
Polyarteritis Nodosa
Post-kala-azar dermal leishmaniasis
Pruritus
Pulmonary Edema
Pulmonary Valve Insufficiency
Sinusitis
Skin Diseases, Genetic
Spinal Cord Diseases
Tuberculosis, Meningeal
Peritonitis, Tuberculous
Pleural Tuberculosis
Uveitis
Venous Engorgement
Wiskott-Aldrich Syndrome
Pleural Effusion, Malignant
Stupor
Macrocytosis
Immunoglobulin A deficiency (disorder)
Reactive Hyperemia
HIV Encephalopathy
Dermatofibrosarcoma
Increased IgE level
Acute lower respiratory tract infection
IgM deficiency
Thick skin
Chronic heart failure
Vesicular Stomatitis
Adenosine deaminase deficiency
Purine-nucleoside phosphorylase deficiency
GALACTOSIALIDOSIS
HIV encephalitis
Active Hyperemia
Histiocytic sarcoma
Maturity onset diabetes mellitus in young
Severe combined immunodeficiency due to adenosine deaminase deficiency
Dermatofibrosarcoma Protuberans
Primary immune deficiency disorder
Chronic diarrhea
pricking of skin
hiv-infection/aids
Tonsil absent
Recurrent upper respiratory tract infection
Congenital absence of thymus
Recurrent pneumonia
Multiple pulmonary infections
Malignant Peripheral Nerve Sheath Tumor
Post MI
Congenital hypoplastic anemia
Anemia, Diamond-Blackfan
X-Linked Combined Immunodeficiency Diseases
Bone marrow myeloid dysplasia
Undifferentiated leukemia
Skin Carcinogenesis
Disorder of immune function
Recurrent opportunistic infections
Recurrent viral infection
Desquamation of skin soon after birth
Recurrent bacterial infection
Recurrent fungal infections
Anterior rib cupping
Absence of lymph node germinal center
Sparse/absent eyebrows
Absent cellular immunity
B lymphocytopenia
Recurrent pulmonary infections
SCID Due to ADA Deficiency, Early-Onset
Partial adenosine deaminase deficiency
Absent specific antibody response
Severe B lymphocytopenia
Somatic mosaicism
Absence of eyebrow
Pediatric Obesity
Omenn Syndrome
Combined immunodeficiency disease
Increased susceptibility to bacterial infections
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Sparse or absent eyebrows
Giant Cell Fibroblastoma
Middle East Respiratory Syndrome
Reactive airway disease
Inflammatory dermatosis
Absence of B cells
Prone to bacterial infection
Abnormality of pelvic girdle bone morphology
Diffusely thickened skin
Immunoglobulin IgG2 deficiency
Abnormality of the skeletal system
Aplasia/Hypoplasia of the eyebrow
Reduced red cell adenosine deaminase activity
Anti-thyroid peroxidase antibody positivity
Absent thymic shadow
Synovitis
Brain Tumor, Primary
Carcinoma, Papillary
Eczema
Fragile X Syndrome
Acute monocytic leukemia
Scrapie
Skin Diseases, Infectious
Staphylococcal Infections
Conduct Disorder
Epstein-Barr Virus Infections
Secondary malignant neoplasm of lung
Uveal melanoma
Cardiac dilatation
Squamous cell carcinoma of the hypopharynx
Restenosis
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Reticulate acropigmentation of Kitamura
Malignant neoplasm of kidney
M5b Acute differentiated monocytic leukemia
Stage IV Skin Melanoma
Renal carcinoma
Severe Sepsis
Idiopathic normal pressure hydrocephalus (INPH)
dowling-degos disease
ALZHEIMER DISEASE 18
Hepatitis D Infection
Dystonia Musculorum Deformans
Profound Mental Retardation
Lymphocytic Choriomeningitis
Salmonella infections
Spastic Paraplegia, Hereditary
Arhinencephaly
Complete atrioventricular block
Non-arthropod borne lymphocytic choriomeningitis
Metastatic melanoma
Macule
AICARDI-GOUTIERES SYNDROME
Coloboma of eyelid
Loss of speech
Macular hyperpigmentation
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
AICARDI-GOUTIERES SYNDROME 1
Loss of ability to walk
Dyschromatosis universalis hereditaria
Profound intellectual disabilities
Aicardi-Goutieres Syndrome 2
Pseudo-TORCH syndrome
AICARDI-GOUTIERES SYNDROME 6
Macular hypopigmentation
Hyperpigmented/hypopigmented macules
Porencephalic cyst
Mental disorders
Transient Ischemic Attack
Other specified transient cerebral ischemias
Abnormal behavior
Finding of body mass index
Bipolar I disorder
Sclerocystic Ovaries
Body mass index
Drug abuse
Drug habituation
Drug Use Disorders
Organic Mental Disorders, Substance-Induced
Substance Dependence
Substance Use Disorders
Substance-Related Disorders
Substance abuse problem
Age at menarche
Drug Dependence
Prescription Drug Abuse
Substance Withdrawal Syndrome
Drug Withdrawal Symptoms
Withdrawal Symptoms
Quality of sleep
Hyperkinesia, Generalized
DEAFNESS, AUTOSOMAL RECESSIVE 44
Prelingual sensorineural hearing impairment
Severe chronic obstructive pulmonary disease
Attention deficit hyperactivity disorder
response to antineoplastic agent
Diabetic Angiopathies
Microangiopathy, Diabetic
Diastolic blood pressure
Hip circumference
Birth Weight
Dyskinetic syndrome
Glucose tolerance test
Myoclonus
Cardiomyopathies, Primary
Myocardial Diseases, Secondary
Hypoplastic Left Heart Syndrome
Polycystic liver disease
Lymphocyte Count measurement
Ventricular Dysfunction, Left
Facial Myokymia
Benign Hereditary Chorea
Fasting blood glucose measurement
Myokymia
Neurodevelopmental Disorders
Myoclonic dystonia
Limb hypertonia
Dyskinesia, Familial, with Facial Myokymia
Chorea, Benign Familial
Anxiety disease
alpha-Thalassemia
Cyst
Cystic kidney
Nodule
Thyroid Nodule
Oropharyngeal Dysphagia
LETHAL CONGENITAL CONTRACTURE SYNDROME 8
Common Variable Immunodeficiency
Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia (AML-M2)
Neurofibromatosis 1
Waist Circumference
Glucocorticoid Receptor Deficiency
Cystitis
Congenital Hydrocephalus
Miosis disorder
Polyp of gallbladder
Myeloma kidney
Overactive Detrusor
Akathisia
Anxiety and fear
Overactive Bladder
Bulbo-Spinal Atrophy, X-Linked
Psychomotor Agitation
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation
Hydrocephalus
Symptoms of stress
Albuminuria
Alcohol consumption
Hyperaldosteronism
Hyperlipidemia, Familial Combined
Hypernatremia
Endolymphatic Hydrops
Systolic hypertension
Endocrine hypertension
Xerocytosis
Monosomy 22
Conn Syndrome
Familial Ménière disease
Elliptocytosis, Hereditary
Attention Deficit Disorder
Urticaria
Welts
Miyoshi myopathy
SPHEROCYTOSIS, TYPE 1 (disorder)
Biliary Atresia
Encephalopathy, Toxic
Toxic Encephalitis
Pyramidal sign
Neurotoxicity Syndromes
Spastic Quadriplegia
Mental impairment
Perineurioma
Soft tissue perineurioma
Difficulty speaking
Supranuclear gaze palsy
Poor speech
Cerebral Palsy, Spastic Quadriplegic, 1
Problems speaking
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
Leukemia, Plasma Cell
Acrodermatitis enteropathica
Triglyceride storage disease with ichthyosis
Secretory breast carcinoma
Autosomal dominant retinitis pigmentosa
Placental Choriocarcinoma
Childhood Renal Cell Carcinoma
HER2 gene amplification
Apocrine Carcinoma
Pseudohyperkalemia Cardiff
Mammary Analogue Secretory Carcinoma
Hypercalciuria
Hypocalcemia
Malignant neoplasm of pharynx
Xanthoma tendinosum
Pharyngeal Carcinoma
Atypical Ductal Breast Hyperplasia
Autosomal dominant hypocalcemia
Acute pancreatitis
Alcohol Use Disorder
Alcoholic Intoxication
Anemia, Macrocytic
Antisocial Personality Disorder
Flushing
Head Neoplasms
Laryngeal Diseases
Alcoholic Liver Diseases
Nasopharyngeal Neoplasms
Nausea
Neck Neoplasms
Nicotine Dependence
Pancreatic Pseudocyst
Pharyngeal Neoplasms
Erythema
Viral hepatitis
Alcoholic Neuropathy
Oral Cavity Carcinoma
Polyneuropathy
Atrophy of testis
Antisocial behavior
Alcohol withdrawal syndrome
Alcohol-Related Disorders
Bipolar II disorder
Fibrosis of pancreas
Proliferative retinopathy
Hypocalciuric hypercalcemia, familial, type 1
Wernicke-Korsakoff Syndrome
Hangover from alcohol
Acute alcoholic intoxication
Alcohol problem
Drunk driving
Esophageal dysplasia
alcohol flush reaction
hazardous drinking
heavy drinking
Hyperuricemia
ABUSE NEGLECT
Cancer of Neck
Cerebral Infarction, Left Hemisphere
Cerebral Infarction, Right Hemisphere
Anterior Choroidal Artery Infarction
Subcortical Infarction
Cancer of Head
Posterior Choroidal Artery Infarction
Upper Aerodigestive Tract Neoplasms
High Grade Intraepithelial Neoplasia
Fetus or newborn affected by alcohol transmitted via placenta or breast milk
Familial benign hypercalcemia
Alcohol Related Birth Defect
Alcohol abuse or dependence
Dysequilibrium syndrome
Gastrointestinal symptom
Excessive drinking
alcohol-related liver disease
PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, LATE-ONSET
Cluster Headache
Sjogren-Larsson Syndrome
Malignant neoplasm of endometrium
Endometrial Carcinoma
Uterine Corpus Cancer
Mental Retardation, Psychosocial
Neutropenia
Odontogenesis
Tooth eruption
Decreased liver function
Increased bilirubin level (finding)
Narrow foot
Recurrent seizures
Brain Infarction
Hypospadias
Drug Resistant Epilepsy
Cholestasis in newborn
Hippocampal sclerosis
Portal fibrosis shown on biopsy
Liver dysfunction, mild
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
Portal fibrosis
Increased head circumference
Increased size of skull
Big calvaria
Angina, Unstable
Cardiac Arrhythmia
Arterial Occlusive Diseases
Asphyxia Neonatorum
Chorioamnionitis
Diabetic Ketoacidosis
Encephalitis
Encephalitis, St. Louis
Endometrial Neoplasms
Endometrial Hyperplasia
Angle Closure Glaucoma
Glomerulonephritis
Hyperalgesia
Malignant Hypertension
Hypertension, Renovascular
Hypotension
Transient ischemia
Jaundice, Obstructive
Lupus Nephritis
Mucocutaneous Lymph Node Syndrome
Myositis
Pyemia
Reperfusion Injury
Retinal Necrosis Syndrome, Acute
Sclerosis
Septic Shock
Skin Neoplasms
Ureteral obstruction
Urinary tract infection
Varicosity
Renal fibrosis
Proliferative diabetic retinopathy
Swelling of limb
Plexiform Neurofibroma
Hyperparathyroidism, Primary
Pain, Burning
Ache
Radiating pain
Proliferative vitreoretinopathy
Systemic Inflammatory Response Syndrome
Carcinoma, Lewis Lung
Chronic cerebral ischemia
Chronic acquired lymphedema
Stable angina
Choroid Plexus Carcinoma
Allodynia
Pain, Splitting
Pain, Crushing
Fluid overload
Renal artery occlusion
Community acquired pneumonia
Macular fibrosis
Central Serous Chorioretinopathy
Middle Cerebral Artery Occlusion
Hyperalgesia, Primary
Hyperalgesia, Secondary
Tactile Allodynia
Pain, Migratory
Suffering, Physical
Medullary Neoplasms
Stenosis
Cardiovascular morbidity
Invasive Carcinoma
obsolete Peripheral vascular insufficiency
Angiogenic Switch
Neoplasms, Intracranial
tumor vasculature
Bright Disease
Dysglycemia
Mechanical Allodynia
Catalepsy
Headache
Hypersomnia with Periodic Respiration
Nerve Degeneration
Prenatal Exposure Delayed Effects
Sleep Apnea Syndromes
Waxy flexibility
Pick Disease of the Brain
Middle Cerebral Artery Syndrome
Ventricular Dysfunction
Perinatal Subarachnoid Hemorrhage
Sleep Apnea, Mixed Central and Obstructive
Bradycardia
Posterior Circulation Transient Ischemic Attack
Subarachnoid Hemorrhage, Spontaneous
Middle Cerebral Artery Thrombosis
Infarction, Middle Cerebral Artery
Carotid Circulation Transient Ischemic Attack
Transient Ischemic Attack, Vertebrobasilar Circulation
Crescendo Transient Ischemic Attacks
Brain Stem Ischemia, Transient
Subarachnoid Hemorrhage, Aneurysmal
Dentatorubral-Pallidoluysian Atrophy
Middle Cerebral Artery Embolus
Left Middle Cerebral Artery Infarction
Embolic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery
Right Middle Cerebral Artery Infarction
Subarachnoid Hemorrhage, Intracranial
Transient Ischemic Attack, Anterior Circulation
Agoraphobia
Endogenous depression
Sleep Initiation and Maintenance Disorders
Lesch-Nyhan Syndrome
Melancholia
Primary Insomnia
Psychoses, Drug
Psychoses, Substance-Induced
Syncope
Depressive Syndrome
Panic Attacks
Obstructive nephropathy
Renal interstitial fibrosis
Rebound Insomnia
Depression, Neurotic
Phobic anxiety disorder
Nonorganic Insomnia
Anxiety States, Neurotic
Abnormal involuntary movement
Transient Insomnia
Pervasive Development Disorder
Early Awakening
inflammatory joint disease
Tardive Dyskinesia
Chronic Insomnia
Psychophysiological Insomnia
Secondary Insomnia
Sleep Initiation Dysfunction
Sleeplessness
Weight decreased
Drug-induced tardive dyskinesia
Irritable Bowel Syndrome
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
Anthrax disease
Borna Disease
Cystadenoma
Diabetic Neuropathies
Toxic Epidermal Necrolysis
Arterial Fatty Streak
Meningitis
Acoustic Neuroma
Nevus
Melanocytic nevus
Rheumatic Fever
Stevens-Johnson Syndrome
Tongue Neoplasms
Trigeminal Neuralgia
Vitamin A Deficiency
Ichthyosis, X-Linked
Familial benign pemphigus
Central Nervous System Neoplasms
Synovial Cyst
Pseudopelade
Cutaneous Melanoma
Malignant tumor of peritoneum
Androgenetic Alopecia
Dermatitis, Phototoxic
Germ cell tumor
Comedone
Zinc deficiency
Triphalangeal thumb
Ramsay Hunt Paralysis Syndrome
Female pattern alopecia (disorder)
Acute respiratory failure
Atheroma
Congenital kyphosis
Diabetic Polyneuropathies
Ovarian epithelial cancer recurrent
Adult Burkitt Lymphoma
Childhood Burkitt Lymphoma
Breast Cancer, Familial
Skin Papilloma
Congenital laryngeal adductor palsy
Nijmegen Breakage Syndrome
Asymmetric crying face association
Dyslexia
Allergic encephalitis
Ewings sarcoma
Cockayne Syndrome, Type II
Lymphangioleiomyomatosis
Autosomal Dominant Juvenile Parkinson Disease
Autosomal Dominant Parkinsonism
Autosomal Recessive Parkinsonism
Parkinsonism, Experimental
Familial Juvenile Parkinsonism
Parkinsonism, Juvenile
Adenomatous polyp of colon
Precursor B-lymphoblastic lymphoma/leukemia
Ischemia of kidney
Small cell carcinoma of esophagus
Intestinal Polyposis
Large cell medulloblastoma
Drug-Induced Stevens Johnson Syndrome
Hormone refractory prostate cancer
Classical Hodgkin's Lymphoma
Benign melanocytic nevus
Phototoxicity
Rash and Dermatitis Adverse Event Associated with Chemoradiation
Classic medulloblastoma
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
Southeast Asian ovalocytosis
Urothelial Carcinoma
Steroid Sulfatase Deficiency Disease
Ceroid lipofuscinosis, neuronal 1, infantile
Fibroatheroma
WARSAW BREAKAGE SYNDROME
Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor
Mycoplasma-Induced Stevens-Johnson Syndrome
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Experimental Organism Basal Cell Carcinoma
High grade serous carcinoma
Alopecia, Male Pattern
Stage IV Breast Cancer AJCC v6 and v7
Infantile Severe Myoclonic Epilepsy
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
Generalized Epilepsy with Febrile Seizures Plus
Bladder neck obstruction
Cannabis Dependence
Malignant neoplasm of skin
Cocaine Abuse
Parathyroid Diseases
Kaposi Sarcoma
Schizoaffective Disorder
Nephrogenic Diabetes Insipidus
Kallmann Syndrome
Acrodysostosis
Chronic schizophrenia
Inflammatory pain
Taste bitter
Paroxysmal atrial fibrillation
Pulmonary Cystic Fibrosis
Clumsiness - motor delay
Lower Urinary Tract Symptoms
genetic hypertension
Cocaine Dependence
Ventricular Remodeling
Left Ventricle Remodeling
Taste sweet
Blastoma
Primary Effusion Lymphoma
Tumor Immunity
Prostatic Hypertrophy
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
Long Qt Syndrome 2
Hypogonadism, Isolated Hypogonadotropic
cocaine use
Behavior Disorders
Massive Osteolyses
Polydipsia
Epilepsy, Cryptogenic
Other anxiety states
Aura
Drug usage
Inattention
Awakening Epilepsy
Rat Insulinoma
Tremor of hands
cardiac event
Spasmodic movement
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
Infrequent generalized seizures
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
Involuntary jerking movements
EEG with photoparoxysmal response
Enhancement of the C-reflex
Jerk-locked premyoclonus spikes
Cerebral cortex myoclonus
Giant somatosensory evoked potentials
EEG with irregular generalized spike and wave complexes
Constipation
Torsades de Pointes
Functional Gastrointestinal Disorders
Chronic systolic heart failure
Hemangioma
Myocardial Reperfusion Injury
Periodontitis
Tachycardia, Ventricular
Ventricular arrhythmia
Strawberry nevus of skin
Ischemic cardiomyopathy
Social Anxiety
Uncomplicated hypertension
Ventricular failure
Heart Failure, Systolic
Left ventricular systolic dysfunction
ST segment elevation myocardial infarction
Takotsubo Cardiomyopathy
AIDS Dementia Complex
Bacteremia
Bronchiolitis
Forced expiratory volume function
Hernia, Inguinal
Hypokalemia
Intermittent Claudication
Mitral Valve Stenosis
Myocarditis
Respiratory Syncytial Virus Infections
Spasm
Status Asthmaticus
Tachycardia
Temporomandibular Joint Disorders
Bronchial Hyperreactivity
Meningitis, Bacterial
Depressive Symptoms
Hypokalemic periodic paralysis
Viral Encephalitis
Abnormality of the thymus
Rheumatic mitral stenosis
Thyrotoxic periodic paralysis
Loss of hypoglycemic warning
Acute cardiac pulmonary edema
Fetal acidosis
Complex Regional Pain Syndromes
Labor Pain
airway disease
COPD exacerbation
Adult onset asthma
Parasitic infection
psychological distress
HIV-1-Associated Cognitive Motor Complex
Postural Orthostatic Tachycardia Syndrome
Seasonal rhinitis
Primary congenital glaucoma
Prehypertension
Lipidemias
Mild persistent asthma
METABOLIC SYNDROME, SUSCEPTIBILITY TO
Maternal Hypotension
Aspirin exacerbated respiratory disease
HIV Coinfection
Lipoatrophic Diabetes Mellitus
Lipomatosis, Multiple Symmetrical
Retinopathy of Prematurity
Microvascular Angina
Hyperandrogenism
Familial generalized lipodystrophy
Precocious pubarche
Sleep Apnea, Obstructive
Observation of Neuromuscular Block
Congenital Generalized Lipodystrophy Type 2
Dystrophia myotonica 2
Obesity, Visceral
Insulin resistance syndrome
Overactive bladder syndrome
Acromegaly
Blastocyst Disintegration
Right Ventricular Hypertrophy
Multiple Sclerosis, Relapsing-Remitting
Embryo Loss
Embryo Disintegration
Resistance to Insulin-Like Growth Factor I
Hypertensive left ventricular hypertrophy
Sessile Serrated Adenoma/Polyp
Manic Disorder
Manic
WHIM syndrome
Aggressive behavior
Self Mutilation
Hypokinesia
Difficulty standing
Adenylosuccinate lyase deficiency (disorder)
Argininosuccinic Aciduria
Inappropriate laughter
Physical aggression
Dysmorphic facies
Unable to walk
Nonverbal
Gait Ataxia
Smooth philtrum
Deformity of face
Poor eye contact
Aggressive reaction
Flat occiput
Progressive neurologic deterioration
Absent speech
Brisk reflexes
Cerebral hypomyelination
Hypointensity of cerebral white matter on MRI
Generalized myoclonic seizures
Distortion of face
Funny looking face
Flat back of the head
Malignant neoplasm of connective and other soft tissue, site unspecified
Eczema Herpeticum
Adult Cholangiocarcinoma
Branchio-Oculo-Facial Syndrome
Hyperkeratosis
Bronchitis, Chronic
Ciliary Motility Disorders
Alveolar rhabdomyosarcoma
Abdominal wall defect
Gastroschisis
Syphilis
Complete trisomy 18 syndrome
Intestinal infectious disease (disorder)
Hair Color
Eye Color
Optic Atrophy, Autosomal Dominant
FRAXE Syndrome
MIXED LINEAGE LEUKEMIA
Apraxias
Beckwith-Wiedemann Syndrome
Embolism, Tumor
Yolk Sac Tumor
Gonadal Disorders
Hepatoma, Morris
Hepatoma, Novikoff
Liver Neoplasms, Experimental
Primary Malignant Liver Neoplasm
Neoplasms, Germ Cell and Embryonal
Oculocerebrorenal Syndrome
Sex Chromosome Aberrations
Autosomal Recessive Polycystic Kidney Disease
Experimental Hepatoma
Renal tubular disorder
Malignant neoplasm of testis
Portal vein thrombosis
Porphyria, Erythropoietic
Pelizaeus-Merzbacher Disease
Liposarcoma, Dedifferentiated
Embryonal Carcinoma
Ganglioglioma
Adult Liver Carcinoma
Congenital diaphragmatic hernia
Multiple tumors
Abnormal fetus
Acute hepatitis
Oculovestibuloauditory syndrome
Congenital hemihypertrophy
Teratoma, Malignant
Hydatidiform Mole, Partial
Intrahepatic Cholangiocarcinoma
Endodermal sinus tumor of ovary
Autoimmune liver disease
Finnish congenital nephrotic syndrome
Benign neoplasm of liver
Liver calculus
Varicella zoster
Metastatic hepatocellular carcinoma
Immunoglobulin deficiency
Congenital omphalocele
trisomy 2
Malignant Testicular Germ Cell Tumor
Denys-Drash Syndrome
Mosaic trisomy 8 syndrome
Sensorimotor neuropathy
Cutaneous Mastocytosis
Hepatoid adenocarcinoma
Nongerminomatous Germ Cell Tumor
Fetal ascites
Congenital exomphalos
Hepatitis B Virus-Related Hepatocellular Carcinoma
Testicular Germ Cell Tumor
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
UV-Sensitive Syndrome
HEMIHYPERPLASIA, ISOLATED
ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF
alpha-Fetoprotein Deficiency
Echogenic Bowel
Meconium ileus
Tumor thrombus
Dysplastic nodule
Oculomotor apraxia
Nephrosis, congenital
Decreased levels of alpha-fetoprotein
Fetal abnormality
Fabry Disease
Aspergillosis, Allergic Bronchopulmonary
Bacterial Endocarditis
Pathological fracture
Gingival Hyperplasia
Gingival Hypertrophy
Hernia
Umbilical hernia
Hoarseness
Mitral Valve Insufficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Spondylolisthesis
Spondylolysis
Lysosomal Storage Diseases
Joint laxity
Pfaundler-Hurler Syndrome
Congenital small ears
Acroparesthesia
Wedging of vertebra
Storage disease
Aspartylglucosaminuria
Congenital Disorders of Glycosylation
Mandibular hyperplasia
Gingival Overgrowth
Class III malocclusion
Delayed bone age
Acne
Neutrophil count decreased
Macroorchidism
Abnormality of amino acid metabolism
Hypoparathyroidism familial isolated
Thick vermilion border
Vacuolated lymphocytes
Thick lower lip vermilion
Beaking of vertebral bodies
Thickened calvaria
Broad face
Hypoplastic frontal sinuses
Full lower lip
mandibular excess (physical finding)
Large face
Aspartylglucosamidase (AGA) deficiency
Mitral regurgitation, mild
ASPARTYLGLUCOSAMINURIA, FINNISH TYPE
Anterior beaking of lumbar vertebrae
Abnormal cortical bone morphology
Abnormality of the ulna
Selective immunoglobulin A deficiency
Hypotrophic frontal sinus
Decreased pneumatization of frontal sinus
Increased thickness of cranium
Rotting teeth
Increased size of the mandible
Hypertrophy of lower jaw
Oral soft tissue hyperplasia
Breaking out
Achondroplasia
Bagassosis
Body Height
Chondroblastoma
Congenital anomaly of cartilage
Chordoma
Arthropathy
Multiple Epiphyseal Dysplasia
Nail Diseases
Osteochondritis Dissecans
Tropical Spastic Paraparesis
Pneumoconiosis
Progeria
Scoliosis, unspecified
Spondylitis
Spondyloepiphyseal Dysplasia
Chondromalacia
Osteoarthrosis, localized, not specified whether primary or secondary
Intervertebral disc disorder
Intervertebral Disc Degeneration
Polyarthritis
Brachydactyly
Lumbar disc disease
Muscular Dystrophy, Facioscapulohumeral
Disk, Herniated
Lyme Arthritis
Growth abnormality
Osteoarthritis of the hand
Barrel chest
Severe myopia
proliferative nephritis unspecified
Osteoarthritis, Knee
Pseudoachondroplasia
Cervical Disc Degenerative Disorder
Short thorax
Broad thumbs
Hypoplasia of thumb
Spondyloepimetaphyseal disorder
Infant length
Genu varum
Mesomelia
Sacroiliitis
Knee joint valgus deformity
growth hormone treatment
Nail abnormality
Proportionate short stature
Spondylarthropathies
Abnormal breathing
Exostoses
Smoking Behaviors
Tendinosis
Respiratory problem
Premature osteoarthritis
Absent nasal bridge
Spondyloepiphyseal Dysplasia, Kimberley Type
Flat capital femoral epiphysis
Developmental stagnation
Relative macrocephaly
Midface retrusion
Low-set, posteriorly rotated ears
Small midface
Spondyloepiphyseal dysplasia, congenita
Kashin-Beck Disease
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Collagenopathy, type 2 alpha 1
Familial Osteochondritis Dissecans
Disorder of Achilles tendon
Hypotrophic midface
Decreased projection of midface
Mucinous Adenocarcinoma
Carotid Artery Diseases
Dermatomyositis
Encephalomyelitis
Hypertrophy
Polycystic Kidney Diseases
Neuronal Ceroid-Lipofuscinoses
Pancreatic Diseases
Pulpitis
Neuralgia, Supraorbital
Thromboangiitis Obliterans
Uremia
Neuralgia, Vidian
Polymyositis
Chronic sinusitis
Malignant tumor of base of tongue
Malignant neoplasm of dorsal surface of tongue
malignant tumor of lingual tonsil
Diabetes, Autoimmune
Embryonal Rhabdomyosarcoma
Reactive systemic amyloidosis
Neuralgia, Atypical
Neuralgia, Stump
Inclusion Body Myositis (disorder)
Erectile dysfunction
Peripheral Nerve Injuries
Reactive perforating collagenosis
Complications of Diabetes Mellitus
Organ dysfunction syndrome
Neuralgia, Perineal
Neuralgia, Iliohypogastric Nerve
Cortical Dysplasia
Malignant tumor of junctional zone of tongue
Malignant neoplasm of border of tongue
Squamous cell carcinoma of skin
Hyperhomocysteinemia
Malignant neoplasm of ventral surface of tongue
Psychoticism
Bacterial oral infection
Neuralgia, Ilioinguinal
Nerve Pain
Paroxysmal Nerve Pain
Foetal damage
Peripheral arterial occlusive disease
Sjogren's Syndrome
Hyperglycemia, Postprandial
Diabetic encephalopathy
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AA amyloidosis
Enophthalmos
Glycogen Storage Disease
Glycogen Storage Disease Type III
Ventricular hypertrophy
Sunken eyes
Broad nasal tip
Malar flattening
Glycogen Storage Disease IIIA
Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIC
Glycogen Storage Disease IIID
Amylo-1,6-glucosidase deficiency
GLYCOGEN STORAGE DISEASE, TYPE IIIb
GLYCOGEN STORAGE DISEASE, TYPE IIIa
Hypotrophic malar bone
Anorexia
Anorexia Nervosa
Central Nervous System Infection
Combat Disorders
Infection by Cryptococcus neoformans
Lipodystrophy
Malaria, Vivax
Thinness
Early syphilis, unspecified
Congenital bilateral aplasia of vas deferens
AIDS defining illness
Bulimia Nervosa
OBESITY, LATE-ONSET
Neurocognitive Disorders
Renal tubular acidosis
AIDS related complex
Aortic coarctation
Arthritis, Psoriatic
Bone Density
Intrahepatic Cholestasis
Prelingual Deafness
Exophthalmos
Eye Abnormalities
Intestinal Neoplasms
Keloid
Mycoses
Neoplasms, Vascular Tissue
Pancreatic Insufficiency
Pulmonary Valve Stenosis
Salivary Gland Neoplasms
Giant Cell Arteritis
Tetralogy of Fallot
Lymphoma, T-Cell, Cutaneous
Alagille Syndrome
Hearing Loss, Extreme
Hepatic necrosis
Macrotia
Corneal Dystrophy, Band-Shaped
Endometrial Stromal Sarcoma
Long narrow head
Renal Cell Dysplasia
Tricuspid Atresia
Congenital hemivertebra
Congenital absence of liver
Congenital hypoplasia of kidney
Microcornea
Axenfeld anomaly (disorder)
Preauricular dimple
Congenital preauricular sinus
Exocrine pancreatic insufficiency
Progressive intrahepatic cholestasis (disorder)
Facies
Giant Cell Glioblastoma
Embryotoxon
Pulmonary Atresia with Intact Ventricular Septum
Peripheral pulmonary artery stenosis
Upward slant of palpebral fissure
Posterior embryotoxon
Preauricular Fistulae, Congenital
Large auricle
Complete Hearing Loss
Serum cholesterol raised
Cardiac defects
Deafness, Acquired
CADASIL Syndrome
Hajdu-Cheney Syndrome
Kaufman-McKusick syndrome
Decreased corneal diameter
Intraductal papillary-mucinous adenoma
Childhood Osteosarcoma
Undifferentiated Gastric Carcinoma
Thyroid Dysgenesis
RENAL ADYSPLASIA
Triangular face
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
Prominent eyes
Short distal phalanx of finger
Abnormality of the ribs
Protruding eyes
Broad forehead
Large pinnae
Alagille Syndrome 2
Prolonged neonatal jaundice
ULNAR HYPOPLASIA
Intrahepatic duct deficiency
Butterfly vertebral arch
Underdeveloped supraorbital ridges
Short ulnae
Prominent globes
Increased hepatocellular carcinoma risk
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Increased incidence of hepatocellular carcinoma
Alagille Syndrome 1
Pulmonary Stenosis
Hepatic ductular hypoplasia
Early-Stage Breast Carcinoma
C1q DEFICIENCY
Renal dysplasia
Bilateral Deafness
Underdeveloped brows
Medullary sponge kidney disease
Reduced number of intrahepatic bile ducts
Multiple small medullary renal cysts
Abnormal nasal morphology
Peripheral arterial stenosis
Deaf Mutism
Turridolichocephaly
Narrow skull shape
Narrow head shape
Narrow cranium shape
Congenital atresia of extrahepatic bile duct
Abruptio Placentae
Adrenal Gland Neoplasms
Alkalosis
Aneurysm, Dissecting
Anuria
Aortic Rupture
Bartter Disease
Blood Pressure
Bronchial Spasm
Cardiomyopathy, Alcoholic
Conn Adenoma
Cushing Syndrome
Sudden death
Nodular glomerulosclerosis
Myocardial rupture
Diaphragmatic Hernia
Primary Hyperoxaluria
Renal hypertension
Hyponatremia
Hypotension, Orthostatic
Infarction
Icterus
Biliary cirrhosis
Meconium Aspiration Syndrome
Mitral Valve Prolapse Syndrome
Necrosis
Nephritis
Nephritis, Interstitial
Nephrosis
Drug Overdose
Peptic Ulcer Hemorrhage
Peutz-Jeghers Syndrome
Pregnancy Complications
Renal Artery Stenosis
Thrombosis
Nephritis, Tubulointerstitial
Oligohydramnios
Thrombus
Sciatic Neuropathy
Hypertensive heart disease
Secondary hypertension
Disease of capillaries
Chronic hypotension
Cicatrix, Hypertrophic
Liddle Syndrome
Diastolic hypertension
Congenital posterior urethral valves
Thrombotic stroke
Cardiovascular Abnormalities
Low-renin essential hypertension
Hypertensive heart failure
Myxoid transformation of mitral valve
Congenital hypoplasia of lung
Allanson Pantzar McLeod syndrome
Potter's facies
Primary hyperoxaluria, type I
Gitelman Syndrome
Isovaleryl-CoA dehydrogenase deficiency
Renal vascular disorder
Inflammatory Breast Carcinoma
Coarctation
Bleeding ulcer
Infarction, Lacunar
Familial sick sinus syndrome
Aortic aneurysm without mention of rupture NOS
Adrenal Cushing's syndrome
Left ventricular dilatation
Prediabetes syndrome
Chronic rejection of renal transplant
Urolithiasis
Maternal hypertension
Neurogenic hypertension
renin induced hypertension
Juxtaglomerular cell hyperplasia
External Carotid Artery Diseases
renin-dependent hypertension
Internal Carotid Artery Diseases
Arterial Diseases, Common Carotid
Hyperphenylalaninaemia
hypertensive nephropathy
Pregnancy associated hypertension
Oestrogen deficiency
Diabetic Cardiomyopathies
Macroangiopathy
Heart Failure, Diastolic
Renal anemia
Glucocorticoid-remediable aldosteronism
Blood pressure finding
Systemic arterial pressure
Multi vessel coronary artery disease
Anti-Basement Membrane Glomerulonephritis
Widely patent fontanelles and sutures
ABLEPHARON-MACROSTOMIA SYNDROME
Influenza A/H5N1
Renal Tubular Dysgenesis With Choanal Atresia And Athelia
Loeys-Dietz Syndrome
Acquired long QT syndrome
Cerebral Small Vessel Diseases
Crigler Najjar syndrome, type 2
Neointima
Neointima Formation
Maternal oligohydramnios
Chronic kidney disease due to hypertension
Familial Hyperaldosteronism
Pseudoprimary hyperaldosteronism
Inflammatory abnormality of the eye
Dissection, Blood Vessel
Abortion, Tubal
Adrenal Rest Tumor
Cerebral Embolism
Erysipelas
Friedreich Ataxia
Placental Insufficiency
Subacute Sclerosing Panencephalitis
Vascular System Injuries
Carcinoma, Lobular
Coronary artery atheroma
Rheumatic disease of heart valve
Very Low Birth Weight
Venous retinal branch occlusion
Polygenic hypercholesterolemia
Pituitary carcinoma
Carcinomatosis of peritoneal cavity
Chronic Kidney Insufficiency
Peritoneal Fibrosis
Persistent cough
Anterior Ischemic Optic Neuropathy
Intraepithelial Neoplasia
Muscular dystrophy congenital, merosin negative
Endometrial Endometrioid Adenocarcinoma
Associated Pulmonary Arterial Hypertension
FRIEDREICH ATAXIA 1
Aortic root dilation
Extranodal marginal zone B-cell lymphoma
Patent Ductus Arteriosus Familial
Symptomatic carotid artery stenosis
Abnormality of vision
Corpus Luteum Cyst
Ovarian Cysts
Low Tension Glaucoma
Premature aging syndrome
Atresia
Mental Retardation, X-Linked
Mental Retardation, X-Linked 1
Megaureter
Lymphatic Metastasis
Postpartum cardiomyopathy
Epiretinal Membrane
Atrioventricular Block
Calcinosis
Dysuria
Subacute Bacterial Endocarditis
Gangrene
Helminthiasis
Hematuria
Hereditary Sensory Autonomic Neuropathy, Type 1
Hyperoxaluria
Kidney Calculi
Nephrocalcinosis
Raynaud Disease
Raynaud Phenomenon
Tooth Loss
Bone pain
Acrocyanosis
Occlusion of artery (disorder)
Isolated cystinuria
Extraosseous Ewings sarcoma-primitive neuroepithelial tumor
Nephrolithiasis
Rare Diseases
Occlusive vascular disease
Decreased glomerular filtration rate
Oxalosis
NEPHROLITHIASIS, CALCIUM OXALATE
Renal failure in adulthood
Atrioventricular nodal disease
Abnormality of circulating enzyme level
Retinal crystals
Increased calcium level in kidney
Calcium oxalate kidney stones
High urine occult blood
Dull burning sensation with urination
Arterial disease of legs
Addison Disease
Tumors of Adrenal Cortex
Adrenal gland hypofunction
Congenital adrenal hyperplasia
Ameloblastoma
Dejerine-Sottas Disease (disorder)
Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, Mixed
granulosa cell tumor
Gynecomastia
Severe Dengue
Hypoaldosteronism
Oligospermia
Delayed Puberty
Disorders of Sex Development
Addisonian crisis
Decreased fertility in females
Testicular hypogonadism
Hypertrophy of clitoris
Hyperpigmentation
Congenital hypoplasia of adrenal gland
Melanoderma (disorder)
Primary physiologic amenorrhea
Male Pseudohermaphroditism
Low serum estradiol levels
Small testicle
CHARGE Syndrome
Ambiguous Genitalia
Streak ovary
Testicular regression syndrome
Deficiency of glycerol kinase
Hypogonadotropic hypogonadism
Testicular dysgenesis
Malignant Ameloblastoma
Idiopathic hypogonadotropic hypogonadism
X-linked Adrenal Hypoplasia
Small adrenal gland
Familial Testotoxicosis
Hypoplasia of vagina
Primary spermatogenic failure
Adrenal cortical hypofunction
46, XY female
XX males
Pure gonadal dysgenesis
Complex Glycerol Kinase Deficiency
Primary hypogonadism
ACTH-Secreting Pituitary Adenoma
Congenital absence of germinal epithelium of testes
Rudimentary vagina
Penile hypospadias
Hypocortisolemia
Decreased circulating cortisol level
Adrenal hypoplasia
Mineralocorticoid insufficiency
Absence of pubertal development
Renal salt wasting
Female external genitalia in individual with 46,XY karyotype
DOSAGE-SENSITIVE SEX REVERSAL
Contiguous gene syndrome
Sparse pubic hair
Sparse axillary hair
Decreased testosterone in males
Muscle biopsy shows dystrophic changes
Hypoadrenocorticism, familial
Acute colitis
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
Constitutional delay of puberty
46, XX Testicular Disorders of Sex Development
Swyer Syndrome
PACHYONYCHIA CONGENITA 3
Primary Adrenal Insufficiency
Elevated circulating follicle stimulating hormone level
Urogenital sinus anomaly
Sex reversal
Abnormal sex determination
Elevated circulating luteinizing hormone level
Abnormality of the labia
Abnormality of the scrotum
Xp21 Contiguous Gene Deletion Syndrome
46,XY partial gonadal dysgenesis
Amino Acid Metabolism, Inborn Errors
Hydrops Fetalis
Abnormality of the dentition
Congenital disorder of glycosylation type 1A
Tooth problem
Amino Acid Metabolism, Inherited Disorders
Protein C measurement
Vitamin B 6 Deficiency
Protein C antigen measurement
Glycine N-Methyltransferase Deficiency
S-adenosylhomocysteine hydrolase deficiency
Takayasu Arteritis
Arthritis, Adjuvant-Induced
Urinary Bladder Calculi (disorder)
Bone Resorption
Uterine Cervical Neoplasm
Contact Dermatitis
Hyperventilation
Signs and Symptoms, Respiratory
Silicosis
Sleep disturbances
Splenic Diseases
Tobacco Dependence
Tobacco Use Disorder
Ureteral Neoplasms
Tachyarrhythmia
Malignant neoplasm of ureter
Contact hypersensitivity
Angiofibroma
Chronobiology Disorders
Hyperoxia
Chloracne
Chronic nonspecific lung disease
Chronic colitis
Xeroderma Pigmentosum, Complementation Group D
Lung Injury
Atrophic
Growth Hormone-Secreting Pituitary Adenoma
Asthma attack
Chronic superficial gastritis
Nicotine Use Disorder
Papillary neoplasm
Allergy to peanuts
Dyslipoproteinemias
Congenital nystagmus
Ovarian failure
Circadian Rhythm Disorders
Subfertility, Male
Sleep Disorders
Retinoic acid syndrome
Psychogenic Inversion of Circadian Rhythm
Male sterility
Arthritis, Collagen-Induced
Arthritis, Experimental
Familial multiple trichoepitheliomata
Tumor Promotion
Adenocarcinoma, Endometrioid
Malignant transformation
Anemia, Diamond-Blackfan, 2
OVERLAP CONNECTIVE TISSUE DISEASE
Chronic Lung Injury
Pancreatic cancer, adult
Autoimmune arthritis
Tooth Attrition
Familial Mediterranean Fever
Tracheal Diseases
Gestational Diabetes
Claw hand
Alopecia universalis
Tumoral calcinosis
Nevus elasticus
Microcalcification
Sparse scalp hair
Alopecia-Mental Retardation Syndrome 1
Sparse body hair
Perniola Krajewska Carnevale syndrome
Short corpus callosum
Meningoencephalitis
Neuritis
Other specified infantile cerebral palsy
Motor Neuron Disease
Trigeminal Neuralgia, Idiopathic
Secondary Trigeminal Neuralgia
Adenoviral infections
Creutzfeldt-Jakob Disease, Sporadic
HIV-1 infection
Other Creutzfeldt-Jakob disease
Limb ischemia
Albinism, Oculocutaneous
Isochromosomes
Deficiency of adenylate kinase
Lymphoma, Lymphocytic, Intermediate
Chronic hemolytic anemia
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hypogammaglobulinemia
Bare Lymphocyte Syndrome
Chronic otitis media
Reticular dysgenesis
Neutrophil abnormality
Congenital hypoplasia of thymus
Chronic ear infection
De Vaal's syndrome
Severe congenital neutropenia
Impaired T cell function
Thymic hypoplasia or aplasia
Malabsorption
Abnormality of mitochondrial metabolism
Aplasia/Hypoplasia of the thymus
Decreased antibody level in blood
Small thymus
Acute Kidney Tubular Necrosis
Adenovirus Infections
Anemia of chronic disease
Angioid Streaks
Arachnodactyly
Bone neoplasms
Borderline Personality Disorder
Congenital bronchogenic cyst
Cannabis Abuse
Carcinoid Tumor
Bronchioloalveolar Adenocarcinoma
Merkel cell carcinoma
Colonic Polyps
Colon diverticulum anatomic structure
Diverticular disease of colon
Dysgerminoma
Epilepsies, Partial
Extrapyramidal Disorders
pathologic fistula
Goiter
Hamartoma Syndrome, Multiple
Hashish Abuse
Hemangiosarcoma
HTLV-I Infections
Hyperplasia
Palmoplantar Keratosis
Seborrheic keratosis
Leg Length Inequality
leiomyosarcoma
Prolymphocytic Leukemia
Lipoma
Lipomatosis
Luteoma
Lymphadenitis
Lymphangioma
Lymphedema
Waldenstrom Macroglobulinemia
Multiple Endocrine Neoplasia Type 2a
Meningeal Neoplasms
Microstomia
Moderate mental retardation (I.Q. 35-49)
Muscular Atrophy
Mycosis Fungoides
Myxoma
Nervous System Neoplasms
Neurilemmoma
Other specified types of schizophrenia, unspecified
Paget Disease Extramammary
Papilloma
Paraplegia
Periodontitis, Juvenile
Pseudomyxoma Peritonei
Pulmonary Embolism
Shared Paranoid Disorder
Skin tag
Soft Tissue Neoplasms
Compression of spinal cord
synovial sarcoma
Testicular Neoplasms
Thrombophlebitis
Thyroiditis
Fissured tongue
Uterine Neoplasms
Varicocele
Common wart
Xeroderma Pigmentosum
Fibromatosis, Aggressive
Proteus Syndrome
Chronic gastritis
Skin Diseases, Vascular
LEOPARD Syndrome
Fibroadenoma of breast
Meningiomas, Multiple
Mixed Tumor, Mullerian
Liposarcoma, Myxoid
Histiocytoma, Benign Fibrous
SCHIZOPHRENIA 1 (disorder)
Mastocytosis, Systemic
Acanthosis
Syndactyly of fingers
Macrocephaly
Psychiatric symptom
Cannabis-Related Disorder
Xanthomatosis, Cerebrotendinous
Light chain disease
Lymphedema praecox
Anaplastic thyroid carcinoma
Round face
Lymphatic obstruction
Hypoplasia of the maxilla
Open mouth (finding)
Malignant Meningioma
Fibrous skin tumor of tuberous sclerosis
Congenital macrodactylia
Collagen nevus of skin
Congenital anomaly of brain
Congenital pontocerebellar hypoplasia
Stage II Colon Cancer
Malignant neoplasm of colon stage IV
Metastatic Renal Cell Cancer
Stage IV Bladder Cancer AJCC v6
Nasopharyngeal cancer recurrent
Adenosquamous cell lung cancer
Serous cystadenocarcinoma ovary
Cervical Squamous Cell Carcinoma
endometrial adenoacanthoma
stage, non-small cell lung cancer
Leiomyosarcoma of uterus
Benign Meningioma
Prostatic Intraepithelial Neoplasias
Papule
High-Grade Squamous Intraepithelial Lesions
NEVUS, EPIDERMAL (disorder)
Carcinoid tumor no ICD-O subtype
Hidradenoma Papilliferum
Ganglioneuromatosis
Meningothelial meningioma
Fibrous Meningioma
Psammomatous Meningioma
Angiomatous Meningioma
Hemangioblastic Meningioma
Hemangiopericytic Meningioma
Transitional Meningioma
Congenital neutropenia
Acute retention of urine
Malonic aciduria
Ovarian Cystadenoma
Vulval intraepithelial neoplasia
Multiple malignancy
Spinal Meningioma
Carcinoma of anal margin
Squamous cell carcinoma of tongue
Intracranial Meningioma
Lhermitte-Duclos disease
Early infantile epileptic encephalopathy with suppression bursts
Lymphatic Abnormalities
Leukocyte adhesion deficiency type 1
Testicular dysfunction
Aortic valve calcification
Clear Cell Meningioma
Hemimegalencephaly
Xanthomatous Meningioma
Benign neoplasm of eye, unspecified
Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of breast
Benign neurologic neoplasms
Increased drug resistance
Primary sclerosing cholangitis
Costello syndrome (disorder)
Abnormal lung lobation
CNS metastases
Skin carcinoma
Bile duct carcinoma
Multiple lipomata
Biliary Tract Cancer
Cerebral Convexity Meningioma
Parasagittal Meningioma
Recurrent Chronic Lymphoid Leukemia
Rhabdoid Tumor of the Kidney
Breast adenocarcinoma
Advanced cancer
SHORT syndrome
Impaired insulin secretion
Colorectal cancer metastatic
Aortic valve disorder
Pontoneocerebellar hypoplasia
Solitary fibrous tumor
Avellino corneal dystrophy
Mediastinal (Thymic) Large B-Cell Lymphoma
Single tumor
Squamous cell carcinoma of pharynx
Activated B-cell type diffuse large B-cell lymphoma
Intraorbital Meningioma
Intraventricular Meningioma
Mesenchymal Cell Neoplasm
Olfactory Groove Meningioma
Osteogenic Neoplasm
Marginal Zone B-Cell Lymphoma
Sebaceous adenoma
Liposarcoma, well differentiated
Secretory meningioma
Microcystic meningioma
Subcutaneous lipoma
Anal squamous cell carcinoma
Chronic Lymphoproliferative Disorder of NK-Cells
Glioblastoma, IDH-Wildtype
Tumor Expansion
Leukemia, Large Granular Lymphocytic
Angioblastic Meningioma
Posterior Fossa Meningioma
Sphenoid Wing Meningioma
Macular dystrophy, corneal type 1
Rokitansky Kuster Hauser syndrome
Milroy Disease
Hereditary Leiomyomatosis and Renal Cell Cancer
Testicular Hydrocele
Carcinoma of urinary bladder, invasive
Thin bony cortex
Asymmetric overgrowth
Onset of lymphedema around puberty
Disproportionate tall stature
Decreased muscle mass
Vascular abnormalities restricted to skin
Perisylvian syndrome
Progesterone Resistance
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1
Prostate Cancer, Hereditary, 7
Round, full face
Facial hyperostosis
Asymmetry of the thorax
Abnormal subcutaneous fat tissue distribution
Progressive macrocephaly
Irregular hyperpigmentation
TUBEROUS SCLEROSIS 2 (disorder)
Spinal canal stenosis
Breast Cancer, Familial Male
Cafe au lait spots, multiple
Brachydactyly type C
Calvarial hyperostosis
SCHIZOPHRENIA 8 (disorder)
Megalencephaly cutis marmorata telangiectatica congenita
Proteus-Like Syndrome (disorder)
Macrocephaly mesodermal hamartoma spectrum
Dermoid choristoma of eye proper
Hypertrophy of skin of soles
Paroxysmal kinesigenic choreoathetosis
Carcinoma Metastatic to the Skin
Leukemia, Natural Killer Cell Large Granular Lymphocytic
PTEN Hamartoma Tumor Syndrome
Generalized hyperkeratosis
COWDEN-LIKE SYNDROME (disorder)
Polyposis, Adenomatous Intestinal
Familial Intestinal Polyposis
Macroencephaly
Opitz GBBB Syndrome, X-Linked
Congenital abnormality of vein
Stage II Colon Cancer AJCC v7
Papillary Meningioma
Roux-en-y Anastomosis Site
Hamartomatous polyposis
Gastrointestinal hamartomatous polyps
COWDEN SYNDROME 6
ESTROGEN RESISTANCE
Increased gastric cancer
Conjunctival hamartoma
Mucosal telangiectasiae
Upper limb asymmetry
Depigmentation/hyperpigmentation of skin
Ovarian papillary adenocarcinoma
Hereditary nonpolyposis colorectal carcinoma
Mandibular hyperostosis
Abnormality of the penis
ROSE Cluster 1
Maxillary retrognathia
Noncancerous mole
Increased ossification of facial bones
Hypertrophy of facial bones
Enlargement of facial bones
Increased ossification of calvarial bones
Enlargement of calvarial bones
Thick lower jaw bone
Excessive growth of mandibular bone
Increased ossification of lower jaw
Retrusion of upper jaw bones
Hypotrophic maxilla
Deficiency of upper jaw bones
Decreased projection of maxilla
Infantile hemangioma
Acanthosis Nigricans
Hypoglycemic coma
Oligomenorrhea
Neonatal hypoglycemia
Acquired partial lipodystrophy
Familial partial lipodystrophy
Hypertrophy of tonsils
Obesity, Abdominal
Benign tumor of pancreas
Insulin-resistant diabetes mellitus
Hypoglycemic seizures
Familial Partial Lipodystrophy, Type 1
Familial Partial Lipodystrophy, Type 2
Familial Partial Lipodystrophy, Type 3
Increased intraabdominal fat
Decreased serum leptin
Large for gestational age
INSULIN RESISTANCE, SUSCEPTIBILITY TO
Increased hepatic glycogen content
Hypoketotic hypoglycemia
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST
Decreased adiponectin level
Abnormal circulating insulin level
Lead Poisoning
Paresthesia
Pelger-Huet Anomaly
Phobia, Social
Disorders of Porphyrin Metabolism
Respiratory Paralysis
Porphyrias, Hepatic
Acute intermittent porphyria
Abdominal colic
Dyschezia
Porphobilinogen synthase deficiency
Tyrosinemias
Generalized Anxiety Disorder
Essential Tremor
Genitourinary Cancer
Lead Poisoning, Nervous System
Elevated urinary delta-aminolevulinic acid
Very rare
LEAD POISONING, SUSCEPTIBILITY TO
PORPHYRIA, ACUTE HEPATIC, DIGENIC
Erythropoietic Protoporphyria
Hyperbilirubinemia, Hereditary
Mucopolysaccharidosis VI
Pallor
Ataxia, Spinocerebellar
Thalassemia Intermedia
Pyridoxine-responsive sideroblastic anemia
Acute exacerbation of chronic obstructive airways disease
Photosensitivity of skin
Sleep Apnea, Central
Chronic anemia
Cockayne Syndrome, Type I
Refractory anemia with ringed sideroblasts
Childhood onset
Protoporphyria, Erythropoietic, X-Linked Dominant
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Increased erythrocyte protoporphyrin concentration
Abnormality of iron homeostasis
Macrocytic dyserythropoietic anemia
Angioedema
Balkan Nephropathy
Coronary Aneurysm
Crigler Najjar syndrome, type 1
Dentinogenesis Imperfecta
DiGeorge Syndrome
Pituitary dwarfism
Echinococcosis
Esophageal Varices
Focal Dermal Hypoplasia
Glomerulonephritis, Membranoproliferative
Hemoglobinuria
HIV Seropositivity
Hyperlipoproteinemia Type IV
Delayed Hypersensitivity
Hyperthyroxinemia
Kwashiorkor
Lymphohistiocytosis, Hemophagocytic
Aseptic Meningitis
Mumps
Myotonic Dystrophy
Occupational Diseases
Protein-Energy Malnutrition
Refsum Disease
Rhinitis, Allergic, Perennial
Serum Sickness
Stomatitis
Thyroid Diseases
Hepatitis E
Plasmacytosis
Sicca Syndrome
Pleocytosis
Hemangioblastoma
dysproteinemia
Autonomic neuropathy
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
Membranoproliferative Glomerulonephritis, Type I
Membranoproliferative Glomerulonephritis, Type II
Acute viral hepatitis
Hemorrhagic Fever, Ebola
Focal Nodular Hyperplasia
Adenocarcinoma, metastatic
Mixed Germ Cell Tumor
Hyperthyroxinemia, Familial Dysalbuminemic
Danish type familial amyloid cardiomyopathy
Asymptomatic human immunodeficiency virus infection
Malignant neoplasm of adrenal cortex
Group B streptococcal pneumonia
Plasma cell inflammation
Headache associated with sexual activity
Microalbuminuric diabetic nephropathy
Moderate nonproliferative diabetic retinopathy
End Stage Liver Disease
Hereditary Motor and Sensory Neuropathy Type I
Analbuminemia
Dent's disease
Polyradiculitis
Hepatic infection
Pleuropulmonary blastoma
Acral pseudolymphomatous angiokeratoma of children (APACHE)
Lymphoproliferative Disorder of the Skin
Cholangiolocellular Carcinoma
Smoldering myeloma
Oral Mucositis
Nephrotic Syndrome, Minimal Change
Osteoblastic Osteosarcoma
Heymann Nephritis
Membranoproliferative Glomerulonephritis, Type III
Conjunctival hyperemia
Hypoproteinemia, Hypercatabolic
Dysalbuminemic Hyperthyroxinemia
Parvovirus B19 (disease)
Fetal anemia
Macroalbuminuric diabetic nephropathy
Dysferlinopathy
POLYCYSTIC KIDNEY DISEASE 1
HEMOCHROMATOSIS, TYPE 1
Duchenne and Becker Muscular Dystrophy
Acute inflammatory demyelinating polyneuropathy
Autosomal Recessive Primary Microcephaly
Isolated somatotropin deficiency
ANALBUMINEMIA BAGHDAD
Mixed Salivary Gland Tumor
Intrinsic asthma
Mucoepidermoid Carcinoma
Neoplasms, Neuroepithelial
Chondromyxoid fibroma
Carpal Tunnel Syndrome
Diffuse Cerebral Sclerosis of Schilder
Demyelinating Diseases
Endocrine System Diseases
Fecal Incontinence
Paraparesis, Spastic
Spastic Paraplegia
Paraparesis
Spastic gait
Slurred speech
Leukoencephalopathies
Dysfunction adrenal
Adrenomyeloneuropathy
Urinary bladder sphincter dysfunction
Contiguous Abcd1-Dxs1375e Deletion Syndrome
Elevated long chain fatty acids
Autoimmune Primary Adrenal Insufficiency
Mitochondrial abnormalities
Neuro-degenerative disease
Basal Cell Nevus Syndrome
Hemorrhagic cystitis
Sarcoma, Epithelioid
stage, prostate cancer
New Variant Creutzfeldt-Jakob Disease
alcohol effect
Creutzfeldt-Jakob Disease, Familial
Oculo-dento-digital syndrome
Micropapillary carcinoma
Fibromyxosarcoma
Agranulocytosis
Alcohol Withdrawal Delirium
Heart Rupture, Traumatic
Drinking behavior processes
Heart Injuries
Melanosis
Hangover from any Alcohol or Other Drugs substance
Melanosis coli
Alcohol-Induced Disorders
Cyanotic congenital heart disease
Mixed anxiety and depressive disorder
Multiple lacunar infarcts
Serum gamma-glutamyl transferase measurement
Primary Carcinoma
CHLORPROPAMIDE-ALCOHOL FLUSHING
HANGOVER, SUSCEPTIBILITY TO (finding)
ALCOHOL SENSITIVITY, ACUTE
SUBLINGUAL NITROGLYCERIN, SUSCEPTIBILITY TO POOR RESPONSE TO
ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
MYOTONIC DYSTROPHY 1
Chronic Total Occlusion Vessel
response to alcohol
Delayed oxidation of acetaldehyde
Facial flushing after alcohol intake
Injury of cornea
Corneal Scar
Bilateral cataracts (disorder)
Pseudoaphakia
Anophthalmos
Choanal Atresia
Hypoplasia of the optic nerve
Developmental delay (disorder)
MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 8
Meckel syndrome type 1
Decreased size of eyeball
Abnormally small eyeball
Hallucinations
Paranoid Schizophrenia
Dental Enamel Hypoplasia
Hydrocephalus, Normal Pressure
Congenital Nonbullous Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Congenital
Papillomatosis
Streptococcal lymphadenitis of swine
Corneal erosion
Renal dysplasia and retinal aplasia (disorder)
Apraxia, oculomotor, Cogan type
Thoracic kyphosis
Opacification of the corneal epithelium
Thin dental enamel
Ethylmalonic encephalopathy
Generalized hyperpigmentation
Dysplasia of tooth enamel
Defective enamel matrix
Acne Vulgaris
Zellweger Syndrome
Normocytic anemia
Normochromic anemia
Glycogen Storage Disease XII
Spondylarthritis
Nonspherocytic hemolytic anemia
Acidosis, Lactic
Hereditary fructose intolerance syndrome
Gastrointestinal Hemorrhage
Glycosuria
Hypophosphatemia
Disorder of carbohydrate metabolism
Hepatitis, Autoimmune
Hyperphosphaturia
Renal Tubular Acidosis, Type II
Lactic acidemia
Urine phosphorous concentration above normal
Hyperuricosuria
Liver and Intrahepatic Bile Duct Epithelial Neoplasm
Liver and Intrahepatic Bile Duct Neoplasm
Proximal tubulopathy
Bicarbonaturia
Failure to thrive in infant
Transient aminoaciduria
Adrenal Gland Diseases
Diabetic cataract
Galactosemias
Intestinal Diseases
Other cataract
Sensory neuropathy
Endometriosis of ovary
Diabetic oculopathy
Diabetic peripheral neuropathy
Ovarian adenocarcinoma
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation
Potassium Deficiency Disorder
Induced Cataract
Bowel dysfunction
Stickler syndrome, type 1
Adjustment Disorders
Amputation Stumps
Carcinosarcoma
Ganglioneuroma
Granuloma, Plasma Cell
Hirschsprung Disease
Malignant histiocytosis
Hypersplenism
Angioimmunoblastic Lymphadenopathy
Krukenberg Tumor
Mastocytosis
Neoplasm Recurrence, Local
Embryonal Neoplasm
Pleural Diseases
Pleural effusion disorder
Pneumothorax
Plasma Cell Granuloma, Pulmonary
Nodular Sclerosis Classical Hodgkin Lymphoma
Benign neoplasm of thyroid gland
Lymphomatoid Papulosis
Adenosquamous carcinoma
Pulmonary Blastoma
Leiomyomatosis
Carcinoma, Giant Cell
Ganglioneuroblastoma
Childhood Non-Hodgkin Lymphoma
Meningeal Carcinomatosis
Thoracic lymphadenopathy
Hodgkin's-like
Sickle cell nephropathy
Elevated urinary catecholamines
Disorder of pericardium
Childhood Medulloblastoma
Malignant Childhood Neoplasm
Non-small cell lung cancer metastatic
Bladder Adenocarcinoma
cystic disease
Multiple polyps
Pleomorphic carcinoma
Lymphoepithelial carcinoma
Neurocysticercosis
Atypical fibroxanthoma of skin
Malignant Mesothelioma of Peritoneum
Secondary malignant neoplasm of spinal cord
Gastric lymphoma
Benign neoplasm of brain, unspecified
Recurrent Brain Neoplasm
Primary malignant neoplasm of brain
Smoker's lung
Anaplastic large cell lymphoma T- and null-cell types refractory
Non-small cell carcinoma
Bronchiolo-alveolar carcinoma, non-mucinous
Primary Cutaneous Anaplastic Large Cell Lymphoma
Blastic plasmacytoid dendritic cell neoplasm
Primary cutaneous lymphoma
Anaplastic large B-cell lymphoma
Anaplastic large cell lymphoma, ALK negative
Anaplastic Large Cell Lymphoma, ALK-Positive
Adult Anaplastic Large Cell Lymphoma
Benign Soft Tissue Tumor of Uncertain Differentiation
Childhood Anaplastic Large Cell Lymphoma
ALK positive large B-cell lymphoma
Gastric Inflammatory Myofibroblastic Tumor
Inflammatory pseudotumor of liver
Neuroblastic tumors
Ovarian Serous Adenocarcinoma
Pleural Carcinomatosis
Spindle Cell Neoplasm
Urinary Bladder Inflammatory Myofibroblastic Tumor
Stromal sarcoma
Primary Lesion
Prostate Stromal Proliferation of Uncertain Malignant Potential
Low grade myofibroblastic sarcoma
Lung Sarcomatoid Carcinoma
MESOMELIC DYSPLASIA, KANTAPUTRA TYPE
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
Granulocyte Colony Stimulating Factor Measurement
Neural crest tumor
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
Plasmablastic lymphoma
Secondary malignant neoplasm of ovary
Familial Neuroblastoma
Congenital neuroblastoma
Lepidic Predominant Adenocarcinoma
Chemical Burns
Pyruvate Carboxylase Deficiency Disease
Vitelliform Macular Dystrophy
Becker Muscular Dystrophy
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
Asthma, Exercise-Induced
Drug Eruptions
Enterocolitis
Fractures, Closed
Lyme Disease
Multiple Organ Failure
Other specified forms of pleural effusion, except tuberculous
Adenoma, Basal Cell
Adenoma, Microcystic
Adenoma, Monomorphic
Papillary adenoma
Adenoma, Trabecular
Skin callus
Endotoxemia
Morbilliform Drug Reaction
Fractures, Occult
Forgetful
ASA intolerant asthma
Intrauterine infection
Pancreatic intraepithelial neoplasia
Asthma, Aspirin-Induced
Moderate persistent asthma
Dental Plaque
Scleroderma
Neoplasms, Radiation-Induced
Hypohidrosis
Hypotrichosis
Keratitis
Hyperkeratosis, Epidermolytic
Erythrokeratoderma
Paralysed
Diminished sweating
Stretched skin
Sparse hair
Everted lower lip vermilion
External genital hypoplasia
Self-Healing Collodion Baby
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1
Abnormality of the helix
Thin, sparse hair
Protruding lower lip
Hypergranulosis
Ichthyosis Congenita II
Collodion Fetus
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
Lack of skin elasticity
Leukostasis
Peritonitis
Alveolar Bone Loss
Metabolic Bone Disorder
Fetal Death
Foot Deformities
Fractures, Multiple
Heat Stroke
Hypercalcemia
Hyperostosis
Hypophosphatasia
Osteomalacia
Pulmonary Eosinophilia
Rickets
Vitamin B6 measurement
Childhood hypophosphatasia (disorder)
Abnormality of the skull
Precocious exfoliation of primary tooth
Infantile hypophosphatasia
Adult hypophosphatasia (disorder)
Hypochondroplasia (disorder)
Deformity of bone
Short ribs
Beading of ribs
Short leg
Hereditary pyropoikilocytosis
Blue sclera
Calcium pyrophosphate deposition disease
Stillbirth
Chromosome 1, monosomy 1p
Increased susceptibility to fractures
Varying degree of multiple fractures
Decreased calvarial ossification
Metaphyseal cupping
ODONTOHYPOPHOSPHATASIA (disorder)
Disproportionate short-limb short stature
Skin dimple over apex of long bone angulation
Vertebral clefting
Low alkaline phosphatase
Unossified vertebral bodies
CAMPOMELIC DYSPLASIA
Premature loss of permanent teeth
Hypophosphatasia, Perinatal Lethal
Increased fracture rate
Frequent fractures
Abnormality of the voice
Elevated plasma pyrophosphate
Elevated urine pyrophosphate
Esophagitis
Pleomorphic Lipoma
Scaphycephaly
Spastic syndrome
Metopic synostosis
Microscopic Polyarteritis
Waardenburg Syndrome
Lymphatic Diseases
Poland Syndrome
Polydactyly
Contracture of joint of hand
Craniofrontonasal dysplasia
Congenital clinodactyly
Bifid nasal tip
Ulnar polydactyly of fingers
Midline facial cleft - Tessier cleft 0
Congenital Camptodactyly
Lipoma of corpus callosum
Indolent Non-Hodgkin Lymphoma
Widely-spaced maxillary central incisors
Radial deviation of finger
Central incisor gap
Median cleft lip
Anterior basal encephalocele
Median cleft palate
Frontal cutaneous lipoma
Widow's peak
Preauricular skin tag
PARIETAL FORAMINA
Frontonasal dysplasia
Notched nasal tip
Pectoral muscle hypoplasia/aplasia
Skin tag on the posterior cheek
Diastema between maxillary central incisors
Curvature of digit
Amelogenesis Imperfecta
Odontogenic Tumors
Adenoameloblastoma
Amelogenesis imperfecta local hypoplastic form
Squamous odontogenic tumor
Dental enamel pits
Abnormality of dental color
AMELOGENESIS IMPERFECTA, TYPE IF
Endocarditis
Melioidosis
Sepsis due to urinary tract infection
Asymptomatic bacteriuria
Infective cystitis
Intraabdominal Infections
paranasal sinus and nasal cavity cancer
Cutis Laxa
Retinal Drusen
Cutis Laxa, Autosomal Recessive, Type I
Central blindness
Hard drusen
Anterior open bite
Other hypoparathyroidism
Amelogenesis Imperfecta hypomaturation type
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth
Decreased size of teeth
Decreased width of tooth
Dentin Dysplasia
Odontogenesis Imperfecta
Hereditary disturbances in tooth structure, not elsewhere classified in ICD10CM
Shell teeth
Anovulation
Benign Ovarian Neoplasm
Cholemia
Pseudohermaphroditism
Urologic Diseases
Ovarian Hyperstimulation Syndrome
Gonadoblastoma
Streak gonad
Classical galactosemia
Reifenstein Syndrome
Isosexual precocious puberty
Mullerian inhibiting factor deficiency
stage, ovarian epithelial cancer
Anovulatory (finding)
Congenital absence of both testes
Penis agenesis
Ovarian Insufficiency
Female Urogenital Diseases
Persistent Mullerian duct syndrome
Intersex Conditions
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I
Abnormality of male internal genitalia
Cri du chat
Autoimmune oophoritis
Testicular Feminization
Ovarian Granulosa Cell Tumor
PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II
Muscle Cramp
Muscle Fatigue
Acute heart failure
Muscle AMP deaminase deficiency
Metabolic myopathy
Exercise-induced muscle fatigue
Adenosine monophosphate deaminase deficiency
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
Increased muscle fatiguability
Ventilatory Threshold
Underweight
Blindness, Cortical
Gait, Scissors
Narrow forehead
Weight less than 3rd percentile
Facial hypotonia
Short upper lip
Muscular hypotonia of the trunk
Abnormality of the periventricular white matter
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
Central visual impairment
PONTOCEREBELLAR HYPOPLASIA, TYPE 9
Hypotonic facies
Cortical visual impairment
Atony of facial musculature
Glycogen Storage Disease Type VII
Erythrocyte Amp Deaminase Deficiency
Stiff-Person Syndrome
Myopathy, Centronuclear, Autosomal Recessive
Autoimmune Diseases of the Nervous System
Rhabdoid Tumor
Congenital Myotonic Dystrophy
Dysphonia
Hiccup
Impulsive Behavior
Hyperlipoproteinemia Type I
Hyperglycinemia
Hyperglycinemia, Transient Neonatal
Hyperglycinemia, Nonketotic, Type I
Hyperglycinemia, Nonketotic, Type II
Impulsive character (finding)
Recurrent singultus
Hyperglycinemia, Nonketotic, Type III
Nonketotic Hyperglycinemia
Restlessness
Hyperamylasemia
Fragile X chromosome
Acute-Phase Reaction
Pterygium
Rickettsia Infections
Spotted Fever Group Rickettsiosis
Xerostomia
Mood swings
Lateral Sclerosis
Alveolar Soft Part Sarcoma
Hypertrophic disorder of skin, unspecified
Venous malformation
Obstructive chronic pancreatitis
chromosome 11q duplication syndrome
Chronic synovitis
Gout acute
Amyotrophic Lateral Sclerosis 9
Fatigable weakness of respiratory muscles
Fatigable weakness of swallowing muscles
Carcinoma in Situ
Pathologic Neovascularization
Skin Ulcer
McCune-Albright Syndrome
Chronic myocardial ischemia
AIDS with Kaposi's sarcoma
Extramedullary Plasmacytoma
Focal nodular hyperplasia of liver
Femoral artery occlusion
Macrophage Activation Syndrome
Autonomic nervous system disorders
Pulmonary arterial hypertension associated with portal hypertension
Cavernous Hemangioma of Brain
Corneal Neovascularization
Caroli Disease
Impotence, Vasculogenic
Anaplastic Oligodendroglioma
Capillary Leak Syndrome
Primary cutaneous B-cell lymphoma
Well Differentiated Pancreatic Endocrine Tumor
Telangiectatic focal nodular hyperplasia
Hereditary spherocytosis
Hypoalgesia
Reticulocytosis
Anemia, hereditary spherocytic hemolytic
Calcium Pyrophosphate Dihydrate Deposition
Schwartz-Lelek syndrome
Congenital ear anomaly NOS (disorder)
Familial chondrocalcinosis
Red cell distribution width determination
Human anaplasmosis due to Anaplasma phagocytophilum
Spherocytosis
Spinocerebellar Ataxia Type 5
Calcium pyrophosphate arthropathy
RDW - Red blood cell distribution width result
DEAFNESS-HYPOGONADISM SYNDROME
Abnormality of the outer ear
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Coronary Microvascular Disease
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
Abnormality of the hypothalamus-pituitary axis
8p11.2 deletion syndrome
beta Thalassemia
Long QT Syndrome
Romano-Ward Syndrome
Sinus bradycardia
Prolonged QT interval
Linear atrophy
Sinus Node Dysfunction (disorder)
Brugada Syndrome (disorder)
Andersen Syndrome
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
Channelopathies
Long Qt Syndrome 4
CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
Bruxism
Cyclothymic Disorder
Neuroma
Anhedonia
Petit mal status
Grand Mal Status Epilepticus
Common Migraine
Complex Partial Status Epilepticus
Status Epilepticus, Subclinical
Non-Convulsive Status Epilepticus
Simple Partial Status Epilepticus
MAJOR AFFECTIVE DISORDER 2
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 9
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37
Abnormality of brain morphology
Parapsoriasis
ACUTE ALCOHOL WITHDRAWAL
Hypertrophy of kidney
Epidemic diarrhea
Brucella melitensis infection
Oncocytoma, renal
Atrophy of corpus callosum
X-Linked Emery-Dreifuss Muscular Dystrophy
Chromosome 8, monosomy 8p
Sucrase-isomaltase deficiency, congenital
Mature T ALL
Nephronophthisis, familial juvenile
Retinoic acid - acute promyelocytic leukemia syndrome
Hypoadiponectinemia
Mixed phenotype acute leukemia B/myeloid
Enterovirus Infections
Kearns-Sayre syndrome
External Ophthalmoplegia
MERRF Syndrome
Chronic progressive external ophthalmoplegia
Impaired exercise tolerance
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Cataract and cardiomyopathy
Protein Misfolding Disorders
Ragged-red muscle fibers
Multiple mitochondrial DNA deletions
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
Cytochrome C oxidase-negative muscle fibers
Subsarcolemmal accumulations of abnormally shaped mitochondria
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
Hurthle Cell Tumor
Oncocytic Neoplasm
Oxyphilic Adenoma
Carotid Stenosis
Ependymoma
Mycobacterium Infections
Psychomotor Performance
Stomach Diseases
Malignant neoplasm of body of stomach
Malignant tumor of lesser curve of stomach
Malignant tumor of greater curve of stomach
Malignant neoplasm of penis
Squamous cell carcinoma of penis
Acute peritonitis
Breast cancer recurrent
Transitional Cell Neoplasm
Penis carcinoma
High-Grade Prostatic Intraepithelial Neoplasia
Oligodendroglial Neoplasm
X-Linked Lissencephaly
Bladder pain syndrome
Hemorrhagic Disorders
Leprosy
Mycoplasma Infections
Bone necrosis
Thrombosis of cerebral veins
Malignant neoplasm of nasopharynx
Cancer of Nasopharynx
Vagina Carcinoma
Squamous cell carcinoma of tonsil
Asthma chronic
Pancreatic Intraepithelial Neoplasia-1
Keratoconus posticus circumscriptus
Bare lymphocyte syndrome 2
Acute monocytic/monoblastic leukemia
Infant Acute Lymphoblastic Leukemia
Libman-Sacks Disease
Gastrointestinal tract vascular insufficiency
Nonspecific urethritis
Ovarian Clear Cell Adenocarcinoma
Columnar Cell Change of the Breast
Vascular insufficiency of intestine
Polyendocrinopathies, Autoimmune
Borderline tuberculoid leprosy
5q-syndrome
Myelodysplastic Syndrome with Isolated del(5q)
Chromosome 5, trisomy 5q
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
Thrombophilia, hereditary
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3
Progressive supranuclear palsy
Malignant ascites
Mandibulofacial Dysostosis
Vascular Neoplasms
Pulmonary lymphangioleiomyomatosis
Teratozoospermia
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
Chronic lymphocytic leukaemia refractory
Surfactant protein D measurement
Adult type dermatomyositis
Sarcoid myopathy
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
Xanthinuria, Type I
Chlamydia Infections
Congenital clubfoot
Fetal Distress
Retinal Detachment
Skin Abnormalities
Nevi and Melanomas
Lysinuric Protein Intolerance
Nodular melanoma
Retinal Pigment Epithelial Detachment
Lymphocytic infiltration
Intelligence
Memory dysfunction
Smell Perception
Abscess
Benign neoplasm of colon
Hereditary Nonpolyposis Colorectal Neoplasms
Duodenal Diseases
Epithelial cyst
Peptic Esophagitis
fibroma
Fibromatosis
Gardner Syndrome
Hyperparathyroidism
Intestinal Polyps
keratoacanthoma
Neoplastic Syndromes, Hereditary
Odontoma
Parathyroid Neoplasms
Rectal Diseases
Rectal polyp
Ileal Pouches
Gastric adenoma
Adenocarcinoma of rectum
Malignant neoplasm of duodenum
Malignant tumor of extrahepatic bile duct
Malignant neoplasm of other specified sites of female breast
Benign neoplasm of stomach
Carcinoma in situ of stomach
Radioulnar Synostosis
Medullomyoblastoma
Fibromatosis, Abdominal
Adenoma, Villous
Acinar Cell Carcinoma
Carcinoma, Neuroendocrine
Carcinoma, Signet Ring Cell
Pilomatrixoma
Juvenile polyp
Polyposis, Gastric
Carcinoma of extrahepatic bile duct
Cyst of skin
Protein S Deficiency
Carcinoma of ampulla of Vater
Carotid artery occlusion
Turcot syndrome (disorder)
Syndactyly of the toes
Micronodular cirrhosis
Non-small cell lung cancer stage I
Adenocarcinoma of small intestine
Adenocarcinoma of duodenum
Adult Medulloblastoma
Anal carcinoma
Acinar cell carcinoma of pancreas
Cervical Adenocarcinoma
Testicular yolk sac tumour
Lupus anticoagulant disorder
Congenital hypertrophy
Hamartomatous polyp
Fibrolamellar Hepatocellular Carcinoma
Malignant odontogenic tumor
Malignant myoepithelioma
Congenital hypertrophy of retinal pigment epithelium
Intestinal Cancer
Polyp of duodenum
Malignant Central Nervous System Neoplasm
Early gastric cancer
Thalidomide embryopathy syndrome
Neoplasm of uncertain or unknown behavior of stomach
Mucous membrane hyperplasia
Duodenal Cancer
Myxoid/Round Cell Liposarcoma
Duodenal polyposis
Activated Protein C Resistance
Gastro-esophageal reflux disease with esophagitis
Sentinel node (disorder)
Congenital hypoplasia of radius
Parathyroid Gland Adenocarcinoma
Gastrointestinal polyps
Desmoplastic Medulloblastoma
Microphthalmia, syndromic 1
Fundic gland polyp
Intestinal adenocarcinoma
Venoocclusive disease
Basaloid squamous cell carcinoma
Traditional Serrated Adenoma
Eccrine porocarcinoma
Melanotic medulloblastoma
Primary malignant neoplasm of ovary and other uterine adnexa
Blood in stool
Gastric Cardia Adenocarcinoma
Mucinous neoplasm
Medulloblastoma with extensive nodularity
Nasopharyngeal Angiofibroma
ADENOMAS AND ADENOCARCINOMAS
Gardner Fibroma
Synostosis of carpal bones
Radial ray hypoplasia
Absent fingernail
Absent toenail
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Desmoid disease, hereditary
COLORECTAL CANCER, SUSCEPTIBILITY TO
Syndactyly Cenani Lenz type
Subacute progressive viral hepatitis
Polyposis Of Gastric Fundus Without Polyposis Coli
Adenomatous colonic polyposis
Small intestine carcinoid
Juvenile Polyposis Coli
Aberrant Crypt Foci
BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)
Desmoid Tumor Caused By Somatic Mutation
Poroma
Treatment related leukaemia
Chronic ulcerative colitis
Clinical sepsis
MUTYH-Associate Polyposis
Breast cancer, lobular
Extrahepatic Cholangiocarcinoma
Abnormality of the abdominal wall
Abnormality of the musculature
Abnormality of the metacarpal bones
Hyperplastic colonic polyposis
Ovarian Microcystic Stromal Tumor
Medulloblastoma, WNT-Activated
Agammaglobulinemia
Alkaptonuria
Cutaneous Candidiasis
Oral candidiasis
Candidiasis of vagina
Dysgammaglobulinemia
Escherichia coli Infections
Infectious Mononucleosis
Prolactinoma
Systemic candidiasis
Amyloid Neuropathies
MYOCARDITIS, ACTIVE
Hantavirus Infections
Systemic amyloidosis
Amyloid nephropathy
Localized amyloidosis
Primary Systemic Amyloidosis
X-Linked Lymphoproliferative Disorder
Immune-complex glomerulonephritis
Foreign body giant cell granuloma
Lymphoproliferative Syndrome, X-Linked, 2
Acquired Hypogammaglobulinemia
Hemophagocytic Syndrome
Alopecia Areata
Autoimmune state
Candidiasis, Chronic Mucocutaneous
Mucocutaneous candidiasis
Shigella Infections
Guillain-Barre Syndrome
Hypoparathyroidism
Keratoconjunctivitis
Keratoconjunctivitis Sicca
Polyglandular Type I Autoimmune Syndrome
Autoimmune Syndrome Type II, Polyglandular
Female hypogonadism syndrome
Addison's disease due to autoimmunity
Autoimmune hypoparathyroidism
Recurrent herpes simplex
Capillary malformation (disorder)
Idiopathic Hypoparathyroidism
Congenital absence of spleen
hepatitis immune
Chronic candidiasis
Polyglandular Type III Autoimmune Syndrome
Adrenal hyperplasia
Polyglandular Deficiency Syndrome, Persian-Jewish Type
Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA
Autoimmune polyendocrinopathy syndrome, type 1
Abnormality of the fingernails
Abnormality of calcium-phosphate metabolism
Increased circulating cortisol level
Keratosis
Smooth Muscle Tumor
Intraocular retinoblastoma
Amnesia, Transient Global
Ocular albinism, type I
Environmental Carcinogenesis
Pediatric Intraocular Retinoblastoma
Salivary Gland Pleomorphic Adenoma
Childhood Ependymoma
Motor neuron atrophy
Borrelia Infections
Condylomata Acuminata
Hyperhidrosis disorder
Stereotyped Behavior
Stereotypic Movement Disorder
Sweating
Pulmonary Infiltrate
Bowenoid papulosis
Richter's syndrome
Splenic Marginal Zone B-Cell Lymphoma
Low grade B-cell lymphoma
Malignant melanoma of eye
Increased sweating
Gastrointestinal lymphoma
Chromosome 12, 12p trisomy
Acute and chronic colitis
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
Primary Lung Lymphoma
Colorectal Lymphoma
Abnormality of B cells
Erythema Nodosum
Periodic fever
Hepatic Encephalopathy
Sprains and Strains
IgG Deficiency disorder
Pelvic Inflammatory Disease
Xeroderma pigmentosum, group A
Human immunodeficiency virus II infection
Fulminant hepatitis
Post-transplant lymphoproliferative disorder
Carcinoma testes
Recurrent pharyngitis
Hereditary Autoinflammatory Diseases
Reduced natural killer cell activity
Increased IgM level
MELORHEOSTOSIS, ISOLATED
Immunoglobulin G subclass deficiency (finding)
Oral Submucous Fibrosis
Squamous Cell Neoplasms
Malignant neoplasm of stomach stage IV
Childhood Malignant Peripheral Nerve Sheath Tumor
Neuroepithelial, Perineurial, and Schwann Cell Neoplasm
Carcinoma of urinary bladder, superficial
Thyroid Lymphoma
Pigmented lesions
Painful Bladder Syndrome
malignant neoplasm of breast staging
Neurofibromatosis, Type 3, mixed central and peripheral
Influenza due to Influenza A virus subtype H1N1
Carotid Artery Thrombosis
Hyperopia
Cerebral Thrombosis
Spinocerebellar Ataxia Type 7
Arcus Senilis
Arthritis, Gouty
Bowen's Disease
Gall Bladder Diseases
Hyperlipoproteinemia Type III
Hypobetalipoproteinemias
Major depression, single episode
Anasarca
Recurrent major depressive episodes
Amyloid Neuropathies, Familial
Primary amyloidosis
Amyloidosis, familial visceral
Senile cardiac amyloidosis
Amyloid Polyneuropathy, British Type (disorder)
Cholesteryl Ester Transfer Protein Deficiency
Cardiac Death
Nodular amyloidosis
Primary infertility
Amyloidosis, Familial
Chylomicron retention disease
Nuchal bleb, familial
Perianal Squamous Intraepithelial Neoplasia
Kidney damage
Hereditary cardiac amyloidosis
Ataxia with vitamin E deficiency
Generalized amyloid deposition
Pyloric Stenosis, Infantile Hypertrophic 1
obsolete Combined hyperlipidemia
HYPERALPHALIPOPROTEINEMIA 1
Familial hyperalphalipoproteinemia
Periodic Fever Syndrome
XANTHELASMAS, PERIORBITAL
AMYLOIDOSIS, CARDIAC AND CUTANEOUS
Hereditary systemic amyloidosis
Adolescent Obesity
Childhood Overweight
Atherogenic dyslipidaemia
Erythrocytosis due to low atmospheric pressure
Ferritin measurement
Angina Pectoris
Bile Duct Neoplasms
Bulimia
Chylous Ascites
Erythroid hyperplasia
Heart murmur
Malabsorption Syndrome
Retinal Degeneration
Riboflavin Deficiency
Spina Bifida Cystica
Lentivirus Infections
Eyelid Xanthoma
Aspartate aminotransferase measurement
Mucolipidosis Type IV
Fat intolerance
Ruptured cerebral aneurysm
Steatocystoma multiplex
Hyperkeratosis lenticularis perstans
Familial lipoprotein deficiency
HMG CoA lyase deficiency
beta^0^ Thalassemia
Arcus juvenilis
Familial hypercholesterolemia - homozygous
Avitaminosis
Apolipoprotein B Assay
Low density lipoprotein increased
Complete hydatidiform mole
Acanthocytosis
Decreased LDL
Triple vessel disease
Hyperfibrinogenemia
Staphylococcus aureus infection
Vitamin Deficiency
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Adult growth hormone deficiency
Premature arteriosclerosis
Hypobetalipoproteinemia, Familial, 2
Abnormality of internal carotid artery
SVEINSSON CHORIORETINAL ATROPHY
Familial hypobetalipoproteinemia
eyelids (symptom)
Alcoholic Steatohepatitis
Low density lipoprotein receptor mutation
Glycogen storage disease type Ia
HEPATIC LIPASE DEFICIENCY (disorder)
HYDATIDIFORM MOLE, RECURRENT, 1
Hypertriglyceridemic Waist
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
Precocious atherosclerosis
Cerebral artery atherosclerosis
Myocardial steatosis
Premature plaque build-up in arteries
Premature hardening of arteries
Xanthoma of periocular region
Xanthelasma of periocular region
Adenoma of small intestine
C-reactive protein measurement
Epithelial hyperplasia of skin
Primary Progressive Aphasia (disorder)
Age-associated memory impairment
Scaly skin
Behavioral variant of frontotemporal dementia
Eruptive xanthoma
Familial apolipoprotein C-II deficiency
Lipidemia retinalis
Chylomicronemia syndrome
Deficiency of triacylglycerol lipase
Apolipoprotein C-II Deficiency (disorder)
Familial hyperchylomicronemia syndrome
Intestinal carcinoma
Hypotriglyceridemia
lipoprotein disorder
Fat redistribution
Apolipoprotein C-III Deficiency
BREAST CANCER, SOMATIC
Bradykinesia
Degenerative Diseases, Central Nervous System
Hypokinesia, Antiorthostatic
Degenerative Diseases, Spinal Cord
Angina Pectoris, Variant
Anomia
Anosmia
Blepharitis
Intracranial Arteriosclerosis
Cerebral Atherosclerosis
Communication impairment
Febrile Convulsions
Corneal Diseases
Delirium
Delusions
Multi-infarct dementia
Dermatomycoses
Camurati-Engelmann Syndrome
Dysautonomia, Familial
Hallermann's Syndrome
Hallervorden-Spatz Syndrome
Heart valve disease
Genital Herpes
Herpes Labialis
Keratitis, Herpetic
Herpes zoster disease
Hyperlipoproteinemia Type V
Hypopituitarism
Illusions
Longevity
Mercury Poisoning
Opportunistic Infections
Optic Neuritis
Delirium, Dementia, Amnestic, Cognitive Disorders
Pustulosis of Palms and Soles
Petechiae
Postherpetic neuralgia
Tension Headache
Quadriplegia
Retinal Vein Occlusion
Schistosomiasis
Schistosomiasis mansoni
Schizophreniform Disorders
Sea-Blue Histiocyte Syndrome
Siderosis
Stomatitis, Herpetic
Unspecified idiopathic peripheral neuropathy
Vitamin D Deficiency
Neurofibrillary degeneration (morphologic abnormality)
Apathy
soft neurological signs
Intravenous Drug Abuse
Genital ulcers
Common ventricle
malignant neoplasm of head of pancreas
Malignant neoplasm of body of pancreas
Malignant neoplasm of tail of pancreas
Malignant neoplasm of other specified sites of pancreas
Exfoliation Syndrome
Psychological symptom
Dysphoric mood
Hallucinations, Visual
Extrapyramidal sign
Sensory denervation disorder
Dementia associated with alcoholism
Age-related cognitive decline
Prodrome
Psoriasis vulgaris
Apraxia of Phonation
Cerebral Vasospasm
Norrie disease
NADH cytochrome B5 reductase deficiency
Amyloidosis, Primary Cutaneous
Acute nephropathy
Binswanger Disease
Triplegia
Macular retinal edema
Poisoning syndrome
Dementia of frontal lobe type
Aphasia, Progressive
Semantic Dementia
Sporadic Cerebral Amyloid Angiopathy
Dissection of carotid artery
Cellulitis of eyelid
Internal Carotid Artery Stenosis
Iodine deficiency syndrome
Endemic Cretinism
Guttate psoriasis
Generalized pustular psoriasis
Hepatosplenic schistosomiasis
Tetralogy of Fallot with pulmonary atresia
Imbalance of constituents of food intake
Dementia in Parkinson's disease
Subcortical Vascular Dementia
Corticobasal degeneration
Multiple Sclerosis, Acute Relapsing
Mobility poor
Motor symptoms
Spastic
Cerebrovascular amyloidosis
Mediastinal lymphadenopathy
Apolipoproteins E measurement (procedure)
Neurobehavioral Manifestations
Hypersensitive syndrome
Amyotrophic Lateral Sclerosis, Guam Form
Post-Concussion Syndrome
Alcohol Withdrawal Seizures
Severe depression
cortex bone disorders
Cardiovascular Infections
Intracranial Atherosclerosis
Frontotemporal Lobar Degeneration
Multiple Sclerosis, Acute Fulminating
Carotid Artery Plaque
Carotid Ulcer
Common Carotid Artery Stenosis
External Carotid Artery Stenosis
Primary Progressive Nonfluent Aphasia
Dystonia, Primary
Lobular Neoplasia
Psychotic symptom
Arteriolosclerosis
Lipoprotein (a) measurement
frontal dementia
Recurrent genital herpes simplex
Memory performance
Postoperative confusion
Arteriosclerosis of aorta
Cognitive changes
Nontraumatic subarachnoid hemorrhage, unspecified
Cerebral Amyloid Angiopathy, Hereditary
Primary Cutaneous B-Cell Non-Hodgkin Lymphoma
Mobility Limitation
Alport Syndrome, X-Linked
Soft drusen
Progression of Alzheimer's disease
Sleep-wake cycle disturbance
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA
FRAGILE X TREMOR/ATAXIA SYNDROME
Alzheimer disease, familial, type 3
ALZHEIMER DISEASE 4
Lewy Body Variant of Alzheimer Disease
Alzheimer Disease 7
Absent axillary hair
ARTERIAL TORTUOSITY SYNDROME
Apolipoprotein E, Deficiency or Defect of
Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
Familial Hyperbeta- and Prebetalipoproteinemia
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
Broad-Betalipoproteinemia
Floating-Betalipoproteinemia
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
Macular Degeneration, Age-Related, 1
Long-tract signs
Middle age onset
Mixed hyperlipidemia (disorder)
Daytime somnolence
Iatrogenic Jakob-Creutzfeldt disease
clinical depression
Sense of smell impaired
LIPOPROTEIN GLOMERULOPATHY
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
Hypothalamic-pituitary-adrenal axis dysfunction
Executive dysfunction
Somnolence
Visuospatial deficit
Amyloid angiopathy
Acquired CJD
Psychological Trauma
Single Ventricle Defect
Prodromal Period
Prodromal Stage
Mild dementia
Severe dementia
Idiopathic Nephrotic Syndrome
Mixed dementia
Dementia due to Alzheimer's disease (disorder)
ALZHEIMER DISEASE 19
GRN-related frontotemporal dementia
Depression in old age
Dysexecutive syndrome
Recurrent hepatitis
Speech Sound Disorders
Restrictive behavior
Proximal spinal muscular atrophy
Obstructive sleep apnea hypopnea
Mesangial proliferation
Abnormality of the eye
Collagen Diseases
Disseminated Intravascular Coagulation
Rheumatism
Antiphospholipid antibodies measurement
Heparin-induced thrombocytopenia
Behavioral Symptoms
Beriberi
Confusion
Diabetes Insipidus
Hypesthesia
Language Disorders
Osteitis Deformans
Other specified iron deficiency anemias
Phenylketonurias
Pityriasis Rubra Pilaris
Henoch-Schoenlein Purpura
Thiamine Deficiency
Agitation
Cerebellar hemorrhage
Excessive tearing
General Paralysis
Disorientation
Hysterical amnesia
Temporary Amnesia
Todd Paralysis
Hallucinations, Sensory
Dissociative Amnesia
anxiety generalized
Cerebral dysfunction
Global Amnesia
Ichthyosis linearis circumflexa
Gaucher Disease, Type 3 (disorder)
Familial Cerebral Amyloid Angiopathy
Cerebral calcification
Charcot-Marie-Tooth Disease, Type Ia (disorder)
Cortical cataract
Senile Paranoid Dementia
Hereditary cerebrovascular amyloidosis
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Social disinhibition
Neuropil Threads
3-Methylglutaconic aciduria type 2
Autotomy
Neurogenic Inflammation
temporal pain
Tactile Amnesia
Amnestic State
Familial Dementia
FRAXA Syndrome
Hypothalamic Dysfunction Syndromes
Classical phenylketonuria
Bardet-Biedl Syndrome
Chromosome 21 monosomy
Dyscalculia
Poorly Differentiated Thyroid Carcinoma
Vascular degeneration
Developmental arithmetic disorder
PRESENILE AND SENILE DEMENTIA
Peroxisome biogenesis disorders
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
Tortuous cerebral arteries
Spastic Ataxia
Deposits immunoreactive to beta-amyloid protein
DOWN SYNDROME CRITICAL REGION
ALZHEIMER DISEASE, FAMILIAL, 1
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
FANCONI ANEMIA, COMPLEMENTATION GROUP C
ALZHEIMER DISEASE, PROTECTION AGAINST
Spastic Paraplegia Type 7
SMITH-MCCORT DYSPLASIA 1
Early onset torsion dystonia
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
Abnormal social interactions
Abnormal social behavior
Recurrent cerebral hemorrhage
Bloom Syndrome
Chronic Fatigue Syndrome
Osteitis Fibrosa Disseminata
Type II Mucolipidosis
Disruptive, Impulse Control, and Conduct Disorders
Methemoglobinemia
Mucopolysaccharidosis IV
Osteoblastoma
Preexcitation Syndrome
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism
Sexually Transmitted Diseases
Wolff-Parkinson-White Syndrome
Mucopolysaccharidosis, MPS-IV-A
Conduction system abnormalities
Dermatitis, Irritant
Urinary tract obstruction
Fibrous Dysplasia
Congenital emphysema
Gout, HPRT-Related
Adenine phosphoribosyltransferase deficiency
APRT deficiency, Japanese type
Glycogen storage disease, type IX
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Cardiac glycogenosis
Optic Nerve Glioma
Carney Complex
Ventricular preexcitation
Glycogen Storage Disease Type IIb
Deficiency of phosphorylase kinase
Childhood Ataxia with Central Nervous System Hypomyelinization
GALNS Deficiency
Pseudohypoparathyroidism, Type Ia
2,8-Dihydroxyadenine Urolithiasis
Familial Testicular Germ Cell Tumor
Neuroepithelioma
Benign prostatic hypertrophy
Corn of toe
Fowlpox
Granulomatous prostatitis
Prostate nodule
Epididymo-orchitis
Prostate specific antigen measurement
Pituitary-dependent Cushing's disease
Residual Cancer
Disorder of soft tissue
Erythroblastosis
Prostate cancer recurrent
Anastomosis
Urinary symptoms
Prostatic Adenoma
Recurrent Carcinoma
Vascular Hemostatic Disorders
Stage III Colorectal Cancer
Locally Advanced Malignant Neoplasm
Localized Malignant Neoplasm
Localized Carcinoma
Malignant Phyllodes Tumor of Prostate
CATARACT, ANTERIOR POLAR
Cryopyrin-Associated Periodic Syndromes
Prostate cancer, familial
Stage III Colorectal Cancer AJCC v7
Prostate cancer stage D
Proliferative Inflammatory Atrophy
Aplastic Anemia
Anemia, Splenic
Cutaneous Fibrous Histiocytoma
Arthralgia
Eosinophilic granulomatosis with polyangiitis
Clonorchiasis
Corneal dystrophy
Endophthalmitis
Felty Syndrome
Granular Dystrophy, Corneal
Hemiparesis
Sinus histiocytosis
Hypergammaglobulinemia
Actinic keratosis
Globoid cell leukodystrophy
Macular Holes
Paroxysmal nocturnal hemoglobinuria
Metaplasia
Ocular Hypertension
Orchitis
Pregnancy Complications, Cardiovascular
Retinitis
Burn scar
Sialadenitis
Aphthous Stomatitis
Taste Disorders
Uveomeningoencephalitic Syndrome
Varicose Ulcer
Lymphoma, Large-Cell, Follicular
Low Grade Lymphoma (neoplasm)
Precursor cell lymphoblastic lymphoma
Adult-Onset Still Disease
Oral Ulcer
Rheumatoid factor positive (finding)
Anti-nuclear factor positive
Ulcer of esophagus
Gastroparesis
Malignant neoplasm of cheek mucosa
Christ-Siemens-Touraine syndrome
Parapsoriasis en Plaques
Neuroectodermal Tumors
CREST Syndrome
Poliosis
Taste Disorder, Primary
Taste Disorder, Primary, Sweet
Taste Disorder, Primary, Salt
Taste Disorder, Primary, Bitter
Taste Disorder, Anterior Tongue
Taste Disorder, Secondary
Taste Disorder, Secondary, Sweet
Taste Disorder, Secondary, Salt
Taste Disorder, Secondary, Bitter
Taste Disorder, Posterior Tongue
Immunologic hypersensitivity
Increased IgA level
Taste, Metallic
Skin bullae
Smooth muscle antibodies positive
Premature canities
Coffin-Siris syndrome
Primary central nervous system lymphoma
Autoimmune neutropenia
Acute HIV infection
Granulomatous Slack Skin
Chronic small plaque psoriasis
Coombs positive hemolytic anemia
Acute myeloid leukemia, minimal differentiation
Squamous cell carcinoma of mouth
Myasthenia Gravis, Generalized
Myasthenia Gravis, Ocular
Mycosis fungoides/Sezary syndrome NOS
lupus erythematodes
Diffuse Scleroderma
Diarrhea-associated hemolytic uremic syndrome
Invasive Streptococcus pneumoniae disease
Autoimmune Lymphoproliferative Syndrome
Cardiac Lymphoma
Gastric Diffuse Large B-Cell Lymphoma
Systemic onset juvenile chronic arthritis
Histiocytoma
Preterm Premature Rupture of Fetal Membranes
hypopigmented skin patch
Reduced delayed hypersensitivity
Autoimmune Lymphoproliferative Syndrome Type 2B
Decreased lymphocyte apoptosis
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Increased proportion of HLA DR+ and CD57+ T cells
Increased IgG level
Platelet antibody positive
Antineutrophil antibody positivity
Autoimmune Lymphoproliferative Syndrome, Type IA
Autoimmune Lymphoproliferative Syndrome, Type IB
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive
Depressive Disorder, Treatment-Resistant
Abnormal blistering of the skin
Skin blisters
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
Abnormality of the eyelashes
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant
Recurrent aphthous ulcer
Male Germ Cell Tumor
intracranial glioma
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative
Oligoarticular Juvenile Idiopathic Arthritis
Abnormality of the eyebrow
Follicular hyperplasia
SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
Antiphospholipid antibody positivity
Testicular Diseases
Childhood Brain Neoplasm
Aggressive natural killer-cell leukemia
Congenital dyserythropoietic anemia
Uterine Cervicitis
Choledochal Cyst
Choledochal Cyst, Type I
Edema, Cardiac
Leishmaniasis, Visceral
Neuromyelitis Optica
Endotoxic shock
Spinal Cord Injuries
Klatskin Tumor
Spinal Cord Contusion
Spinal Cord Laceration
Spinal Cord transection injury
Post-Traumatic Myelopathy
Choledochal Cyst, Type II
Choledochal Cyst, Type III
Choledochal Cyst, Type IV
Choledochal Cyst, Type V
Polycystic Kidney - body part
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
Primary Hyperthyroidism
Polyuria
Impairment of urinary concentration
Acquired Nephrogenic Diabetes Insipidus
Bedwetting
Equilibration disorder
Congenital Nephrogenic Diabetes Insipidus
Central Diabetes Insipidus
Hypertonic dehydration
Nephrogenic Diabetes Insipidus, Type I
Nephrogenic Diabetes Insipidus, Type II
Unexplained fevers
Nephrogenic Syndrome of Inappropriate Antidiuresis
Hypernatremic dehydration
ADH-Resistant Diabetes Insipidus
Partial nephrogenic diabetes insipidus
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT
Medullary carcinoma
Intestinal metaplasia of gastric mucosa
GIL BLOOD GROUP
Myelitis
Drug-induced depressive state
Fukuyama Type Congenital Muscular Dystrophy
Panencephalitis
Chronic inflammatory disorder
Opticospinal Multiple Sclerosis
Autoinflammatory disorder
Sudden sensorineural hearing loss
Keratoderma, Palmoplantar, Diffuse
Dental Fluorosis, Acquired
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
Diffuse palmoplantar keratoderma, Bothnian type
Ectodermal Dysplasia
Keratitis-Ichthyosis-Deafness Syndrome
Mental handicap
GLYCEROL QUANTITATIVE TRAIT LOCUS
Arsenic Poisoning, Inorganic
Nervous System, Organic Arsenic Poisoning
Arsenic Poisoning
Arsenic Encephalopathy
Arsenic Induced Polyneuropathy
Pericytic Neoplasm
Infective endocarditis
Adenolymphoma
Amenorrhea
Phyllodes Tumor
Muscular fasciculation
Psychosexual identity disorder
Genital Diseases, Male
Giant Cell Tumors
Angiolymphoid hyperplasia
Von Hippel-Lindau Syndrome
Histiocytosis, Langerhans-Cell
Hydrophthalmos
Bloch Sulzberger syndrome
Infertility
Female infertility
Mouth Abnormalities
neurofibroma
Spinal Diseases
Sterility, Postpartum
Supernumerary structure
Li-Fraumeni Syndrome
Acquired porencephaly
Malignant neoplasm of endocrine gland
Congenital malformation of genital organs
Neurofibromatoses
Aicardi's syndrome
Trophoblastic Tumor, Placental Site
Cystadenoma, Serous
Nerve Sheath Tumors
Congenital hernia
Disorder of male reproductive system
Female Pseudohermaphroditism
Gonadal Dysgenesis, 45,X
Breast Neoplasms, Male
Secondary pulmonary hypertension
Dyskeratosis Congenita
Congenital absence of vas deferens
Deficiency of steroid 21-monooxygenase
Pseudovaginal Perineoscrotal Hypospadias
Vulvar Vestibulitis
Motor Neuron Disease, Lower
Invasive Lobular Breast Carcinoma
Congenital porencephaly
Lymphoid hyperplasia
Bifid scrotum
Subfertility, Female
C-cell hyperplasia of thyroid
Deficiency of testosterone biosynthesis
Carcinoma ex pleomorphic adenoma
Bulbospinal Neuronopathy
Female infertility associated with anovulation
Uterus absent (finding)
Hypospadias, penoscrotal
Hypospadias, perineal
Decreased fertility
Neuroendocrine disease or syndrome
pseudohermaphrodite (non-specific)
Craving for alcohol
Deformity of spine
Hereditary Breast and Ovarian Cancer Syndrome
Cancer Relapse
Pyloric Stenosis, Hypertrophic
Subfertility
Poorly differentiated carcinoma
Heredodegenerative Disorders, Nervous System
Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 6 (disorder)
Atrophy, Muscular, Spinobulbar
21-hydroxylase deficiency
Partial androgen resistance
Borderline ovarian tumour
Erdheim-Chester Disease
Female sterility
Progressive Muscular Atrophy
Large cell neuroendocrine carcinoma
Intratubular malignant germ cells
Small cell carcinoma of prostate
Salivary duct carcinoma
Fibrous histiocytoma of tendon sheath
Pulmonary Sclerosing Hemangioma
Prostate Phyllodes Tumor
Metastatic Carcinoma
cancer angiogenesis
Carcinoma of Endocrine Gland
Progression of prostate cancer
SPINOCEREBELLAR ATAXIA 8
Calf muscle hypertrophy
SPINOCEREBELLAR ATAXIA 17
Blind vagina
Absent facial hair
Labial hypoplasia
Proximal amyotrophy
Absent pubic hair
Scrotal hypospadias
Hypospadias 1, X-Linked
Androgen Receptor Deficiency
Vestibulodynia
46, XY Disorders of Sex Development
Testicular dysgenesis syndrome
Sex Differentiation Disorders
Split hand foot deformity 1
Bulbospinal neuronopathy, X-linked recessive
Type I familial incomplete male pseudohermaphroditism
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Cervical Intraepithelial Neoplasia Grade 2/3
Sclerosing Polycystic Adenosis
PROSTATE CANCER, SUSCEPTIBILITY TO
Prostatic Cancer, Castration-Resistant
Prostatic Neoplasms, Castration-Resistant
5-Alpha Reductase Deficiency
Langerhans cell histiocytosis of skin
PROSTATE CANCER, SOMATIC
ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER
Absent or rudimentary fallopian tubes
Non-obstructive azoospermia
Gonadal neoplasm
Germ cell neoplasia
Erectile abnormalities
Obstructive azoospermia
Aplasia/Hypoplasia of the fallopian tube
Abnormality of the rib cage
Porencephaly
Spinocerebellar ataxia type 8
Restrictive cardiomyopathy
Jaundice, Chronic Idiopathic
Retinal Hemorrhage
Stricture of artery
Idiopathic arterial calcification of infancy
Conjugated hyperbilirubinemia
Coagulation factor deficiency syndrome
Hyaline body
Gronblad-Strandberg Syndrome
Increased tendency to bruise
Peau d'orange surface of breast
metabolic disturbance
Calcification of falx cerebri
Thickened nuchal skin fold
High, narrow palate
Calcification of Joints and Arteries
Arterial calcification of infancy
Abnormality of the sternum
COLCHICINE RESISTANCE
Pseudoxanthoma Elasticum, Incomplete
Yellow papule
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
PXE, MODIFIER OF SEVERITY OF
Medial calcification of medium-sized arteries
Excessive wrinkled skin
Medial calcification of large arteries
Yellow-orange papule
Premature occlusive vascular stenosis
Histiocytosis
Histiocytosis, Non-Langerhans-Cell
Papillary renal cell carcinoma, sporadic
CONE DYSTROPHY, X-LINKED, 1
Astigmatism
Coxa valga
Orbital separation diminished
Hypoplasia of scrotum
Simple syndactyly of toes, first web space
Advanced bone age
Coxa valga deformity
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
Bronchitis
Nematode infections
Humoral hypercalcemia of malignancy (disorder)
CONSTRICTING BANDS, CONGENITAL
Metastatic osteosarcoma
Helicobacter-associated gastritis
Ferrochelatase deficiency
Skin toxicity
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
Periventricular Nodular Heterotopia
Tonsillitis
Acute glomerulonephritis
Congenital cystic kidney disease
Cystic Kidney Diseases
Epilepsy, Myoclonic, Infantile
Asbestosis
Hair Diseases
Diffuse cutaneous leishmaniasis
Urea Cycle Disorders, Inborn
Alphavirus Infections
Orotic aciduria
Hyperargininemia
Disseminated neuroblastoma
Muscle fibrosis
Stage 4S neuroblastoma
Lymphoma, Extranodal NK-T-Cell
Pulmonary Fibrosis - from Asbestos Exposure
RETINOSCHISIS 1, X-LINKED, JUVENILE
Diaminoaciduria
Necrotizing enterocolitis in fetus OR newborn
Gyrate Atrophy
Chloasma
Sexual Arousal Disorder
Growth Hormone-Producing Pituitary Gland Neoplasm
Follicular neoplasm
Paroxysmal nonkinesigenic dyskinesia
Abnormalities, Drug-Induced
Congenital hernia of foramen of Morgagni
Congenital hernia of foramen of Bochdalek
Cutaneous anaphylaxis
Deficiency of mevalonate kinase
African Burkitt's lymphoma
Creatinine measurement, serum (procedure)
Glomerular filtration rate finding
Congenital stenosis of aqueduct of Sylvius
Obstructive Hydrocephalus
Aqueductal Stenosis
MICROPHTHALMIA, SYNDROMIC 7
Progressive renal failure
Rapidly progressive
Rapidly progressive disorder
Thin glomerular basement membrane
NEPHROTIC SYNDROME, TYPE 8
Pulmonary alveolitis
Epidermodysplasia Verruciformis
Primary cutaneous marginal zone B-cell lymphoma
Primary Cutaneous Follicle Center Lymphoma
T-lymphocyte deficiency
Amblyopia
Strabismus fixus
Congenital Fibrosis of the Extraocular Muscles
Fibrosis Of Extraocular Muscles, Congenital, 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
Bilateral ptosis
Restrictive external ophthalmoplegia
Restrictive external ophthalmoplegia, bilateral
Mean blood pressure
Familial aplasia of the vermis
RETINITIS PIGMENTOSA 2 (disorder)
Dysplastic Nevus
EPIDERMAL DIFFERENTIATION COMPLEX
Multiple congenital anomalies
Pneumococcal Infections
Seasonal Affective Disorder
Angelman Syndrome
Transferrin measurement
Carcinoma in situ of fallopian tube
Retinal Vasculitis
Hypoparathyroidism - autosomal dominant
X-linked agammaglobulinemia with growth hormone deficiency
Cholestatic liver disease
Carney Complex, Type 1
MYOPIA 26, X-LINKED, FEMALE-LIMITED
Portal hypertensive gastropathy
Social Anhedonia
Acanthamoeba Keratitis
Myoclonic Epilepsy
Paratuberculosis
Shprintzen syndrome
Chronic psychosis
Abnormal gallbladder function
Chronic urticaria
Multiple Sulfatase Deficiency Disease
Undifferentiated schizophrenia
Metachromatic leukodystrophy, juvenile type
Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Adult-Type (disorder)
Myoclonic Epilepsies, Progressive
Unverricht-Lundborg Syndrome
Sulfatiduria
Increased CSF protein
Pseudoarylsulfatase A Deficiency
Decreased nerve conduction velocity
Platelet Aggregation, Spontaneous
Arylsulfatase A Deficiency
Hereditary Neurodegenerative Disorder
ARYLSULFATASE A PSEUDODEFICIENCY
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
METACHROMATIC LEUKODYSTROPHY, SEVERE
ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
METACHROMATIC LEUKODYSTROPHY, MILD
Hip Dislocation, Congenital
Hirsutism
Mucopolysaccharidosis III
Mucopolysaccharidosis Type IIIA
Cervical myelopathy
Arylsulfatase B measurement
Abnormality of the heart valves
Selenium measurement
Epiphyseal dysplasia
cardiac symptom
Prominent sternum
Disproportionate short-trunk short stature
Hypoplasia of the odontoid process
Hypoplastic acetabulae
Broad ribs
Dermatan sulfate excretion in urine
Ovoid vertebral bodies
Hypoplastic iliac wing
Flared iliac wings
MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE
MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE
MUCOPOLYSACCHARIDOSIS, TYPE VI, MILD
Bullet vertebral body
Constrictive median neuropathy
Anterior wedging of L2
Anterior wedging of L1
Abnormal development of end part of bone
Cervix Diseases
Chondrodysplasia Punctata
Meningitis, Pneumococcal
Otitis Media
Albinism, Ocular
Ichthyosis Vulgaris
Trisomy X syndrome
Vaginal intraepithelial neoplasia
Anal intraepithelial neoplasia
Cervical intraepithelial neoplasia grade 1
Cervical intraepithelial neoplasia grade 2
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Anaplastic Oligoastrocytoma
Chronic Alcoholic Hepatitis
vaginalis
Smith-Magenis syndrome
Carcinoma in situ of uterine cervix
Deficiency of sulfatase
Low Grade Squamous Intraepithelial Neoplasia
Retention hyperkeratosis
Minimal Brain Dysfunction
High Grade Cervical Intraepithelial Neoplasia
Cervical high grade squamous intraepithelial lesion
Cervical Squamous Intraepithelial Neoplasia 1
Barakat syndrome
CATARACT, AUTOSOMAL DOMINANT
ALZHEIMER DISEASE 5
Ichthyosis, X-Linked, Complicated
Placental Steroid Sulfatase Deficiency
Infectious Otitis Media
Melanocytic nevus of skin
Syndromic recessive X-linked ichthyosis
Foramen Ovale, Patent
Asperger Syndrome
Cartilage Diseases
Vitamin K Deficiency
Brachytelephalangic Chondrodysplasia Punctata
Short nasal septum
Stippled epiphyses
Abnormality of the backbone
Abnormality of the vertebral column
Platybasia
Seborrheic dermatitis
Tetany
Bulbous nose
Hypernasal voice
Nasal voice
CONOTRUNCAL ANOMALY FACE SYNDROME
Schizophrenia and related disorders
Potato nose
Small earlobe
Prominent nasal bridge
Bulbous nasal tip
22q11 Deletion Syndrome
Abnormality of aortic arch
Abnormality of pulmonary valve
22q11 partial monosomy syndrome
Dysseborrheic dermatitis
Persistant truncus arteriosus
Abnormality of the tonsils
Occipital myelomeningocele
Abnormality of the pharynx
Convex nasal bridge
Joint swelling
Neonatal diabetes mellitus
Fasciculation, Tongue
Laryngomalacia
Farber Lipogranulomatosis
Difficulty walking
Epilepsy, Rolandic
Lipogranuloma
Jankovic Rivera syndrome
Degeneration of anterior horn cells
PSEUDOHYPOPARATHYROIDISM, TYPE IB
SAPOSIN D (disease)
Cherry red spot of the macula
Benign Rolandic Epilepsy
Combined Saposin Deficiency
Hoarse cry
Albright's hereditary osteodystrophy
Pseudohypoparathyroidism Type 1B
Periarticular subcutaneous nodules
Progressive distal muscular atrophy
Body Temperature Changes
Dysautonomia
Sleep-related respiratory failure
Megacolon
Olfactory Neuroblastoma
Islet Cell Tumor
Posteriorly rotated ear
Cerebrovascular Occlusion
Congenital central hypoventilation
Supratentorial Embryonal Tumor, Not Otherwise Specified
Differentiating Neuroblastoma
Sinonasal undifferentiated carcinoma
Abnormality of temperature regulation
Autonomic dysregulation
CCHS WITH HIRSCHSPRUNG DISEASE
Digestive System Neuroendocrine Carcinoma
Central hypoventilation
Breathing dysregulation
Hydatidiform Mole, Invasive
Double inlet left ventricle
Basal cell carcinoma
Incontinentia Pigmenti Achromians
Schamberg Disease
Pigmentation Disorders
Pigmented Basal Cell Carcinoma
Hereditary Melanoma
Alkalosis, Respiratory
Aminoaciduria
Clastothrix
Acute type B viral hepatitis
Dry hair
Protein avoidance
Hyperglutaminemia
Episodic ammonia intoxication
Arginine deficiency
Abnormal urinary amino-acid findings
Hypoargininemia
Pineal Gland Neoplasm
pineoblastoma
Pineocytoma
Hyperexplexia
Large hand
Long foot
Hypsarrhythmia
Delayed myelination
Exaggerated startle response
Exaggerated acoustic startle response
Hypoplasia of the pons
Increased startle response
Psychomotor retardation, profound
Sloping forehead
Congenital microcephaly
Cortical gyral simplification
Profound global developmental delay
ASPARAGINE SYNTHETASE DEFICIENCY
Myopia, Degenerative
Canavan Disease
Canavan Disease, Familial Form
Canavan Disease, Neonatal
Canavan Disease, Sporadic Form
Canavan Disease, Infantile
Canavan Disease, Juvenile
Aminoacylase 2 Deficiency
Late closure of anterior fontanel
CANAVAN DISEASE, MILD
Aplasia/Hypoplasia involving the central nervous system
Delayed closure of the soft spot on the skull
Ectopia Lentis
Lens dislocation
Malocclusion
Convex nasal ridge
Bile duct proliferation
Atrophic iris
Hepatobiliary neoplasm
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
EAR, PATELLA, SHORT STATURE SYNDROME
Large beaked nose
Angle class 3 malocclusion
Angle class 2 malocclusion
Familial Tremor
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Argininosuccinic Acid Synthetase Deficiency, Complete
CITRULLINEMIA, MILD
Craniocerebral Trauma
Hepatic Vein Thrombosis
Legg-Calve-Perthes Disease
Renal Artery Obstruction
Supraventricular tachycardia
Charcot-Marie-Tooth Disease, Type Ib
ANTICOAGULANT DISORDERS
Antithrombin III Deficiency
Cerebral venous sinus thrombosis
Head Injury, Superficial
Hypoplasminogenemia
Protein C Deficiency
Head Injuries, Multiple
Crushing Skull Injury
Head Injury, Open
Hypofibrinogenemia
Head Injury, Minor
Central nervous system lymphoma
Frontal Region Trauma
Occipital Region Trauma
Parietal Region Trauma
Temporal Region Trauma
Intracranial Thrombosis
Brain Thrombosis
Budd-Chiari Syndrome
Brain Thrombus
Cerebral Thrombus
Congenital disorder of glycosylation type 1B
Hereditary antithrombin III deficiency
Recurrent thrombophlebitis
Hereditary Antithrombin Deficiency
Hematocrit procedure
Glucose measurement
Cardiac embolism
Persistent atrial fibrillation
familial atrial fibrillation
Jeune thoracic dystrophy
Prothrombin G20210A mutation
Myoepithelioma
Clear cell sarcoma, of tendons and aponeuroses
Round cell sarcoma
Histiocytoma, Angiomatoid Fibrous
Bone Sarcoma
Japanese Encephalitis
Stromal Neoplasm
Exudative edema
Congenital cataract
Mammary Ductal Carcinoma
Age-related cataract
Simple renal cyst
stage, neuroblastoma
Renal cyst
Nonnuclear polymorphic congenital cataract
Congenital blindness
Blindness, Transient
Blindness, Hysterical
Blindness, Acquired
Amaurosis
Blindness, Monocular
Prominent forehead
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
Fused labia minora
Bulging forehead
Blindness both eyes NOS (disorder)
Bone Marrow Diseases
Cerebellar Diseases
Cholangitis
Craniopharyngioma
Leukemia, T-Cell, Chronic
Leukoplakia
Paraganglioma
Proctitis
Immunoblastic Large-Cell Lymphoma
Choreoathetosis
Malignant neoplasm of fallopian tube
Benign neoplasm of bladder
Carcinoma in situ of bladder
Exudative retinopathy
Abnormality of the hair
Childhood Hodgkin Lymphoma
Cafe-au-Lait Spots
Ataxic
Choreoathetoid movements
Elevated alpha-fetoprotein
Seckel syndrome
Birthmark
Chronic viral hepatitis
stage, cervical cancer
Infantile Refsum Disease (disorder)
Chromosome Breakage
Progressive cerebellar ataxia
Isolated cervical dystonia
Alpha fetoprotein abnormal
Neoplasm of uncertain or unknown behavior of bladder
Abnormal spermatogenesis
Palmar-plantar erythrodysesthesia syndrome
Malignant lymphoma - lymphocytic, intermediate differentiation
Lymphoid neoplasm
Idiopathic polypoidal choroidal vasculopathy
Recurrent bronchitis
Sickle Cell Dactylitis
Hypocomplementaemia
Pancreatic carcinoma resectable
Polyomavirus Infections
Contralateral breast cancer
Hereditary non-polyposis colorectal cancer syndrome
Neuropathy ataxia and retinis pigmentosa
Aggressive Non-Hodgkin Lymphoma
Pyothorax-Associated Lymphoma
Unilateral Breast Carcinoma
Decreased number of CD4+ T cells
Dopa-Responsive Dystonia
ATAXIA-TELANGIECTASIA-LIKE DISORDER
Defective B cell differentiation
B-CELL MALIGNANCY, LOW-GRADE
Ataxia-Telangiectasia Variant
Abnormality of the hair shaft
Pancreatic carcinoma, familial
Laryngopharyngeal Cancer
Hypopigmentation of hair
BREAST CANCER, SUSCEPTIBILITY TO
response to metformin
Hodgkin's disease in children
Lymphoblastic leukemia in children
Radiation Damage
CD4+ T-cell lymphopenia
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
Unilateral Breast Neoplasms
Abnormal sperm development
Abnormality of bone marrow cell morphology
Blepharophimosis
Self-Injurious Behavior
Flexion contracture of proximal interphalangeal joint
Self-harm
Autistic behavior
Generalized vitiligo
Cerebellar vermis hypoplasia
Chromosome 1p36 Deletion Syndrome
Depressed nasal ridge
Hypoplastic feet
Broad eyebrow
Horizontal eyebrow
High-grade hypermetropia
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART
Carcinoid, Goblet Cell
Cerebellar Liponeurocytoma
Alcohol Toxicity
Gastroenteritis, Transmissible, of Swine
Hearing Loss, Central
Hearing Loss, High-Frequency
Vestibular Diseases
Aldosterone-Producing Adrenal Cortex Adenoma
Diplopia
Dizziness
Drowsiness
Hemiplegia
Vertigo
Familial benign neonatal epilepsy
epilepsy and migraine
Basilar-Type Migraine
Hemiplegic migraine
Migraine with Prolonged Aura
Familial Hemiplegic Migraine
Alternating hemiplegia of childhood
Migrainous vertigo
Transient neurological symptoms
Episodic Ataxia
Episodic ataxia type 2 (disorder)
Migraine with Typical Aura
Hemiplegic migraine, familial type 1
MIGRAINE, SPORADIC HEMIPLEGIC
Episodic hemiplegia
Episodic quadriplegia
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
Migraine, Familial Basilar
Transient unilateral blurring of vision
Familial migraine
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
Drooling
Sialorrhea
Talipes cavus
Oculogyric crisis
Motor Disorders
Gait, Unsteady
Disturbance of consciousness
Mixed bipolar I disorder
Retinoschisis, Juvenile, X-Linked
Hemiplegia, Crossed
Familial Dystonia
Expressionless face
Neonatal infection
Epicanthus palpebralis
CAPOS syndrome
Progressive visual loss
Postural instability
Decreased facial expression
DYSTONIA 12
Decreased visual acuity, progressive
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
Weakness
Abnormality of earlobe
Episodic generalized hypotonia
Decreased facial muscle movement
Anemia, Pernicious
Dyspepsia
Gastroenteritis
Medullary sponge kidney
Arthritis, Reactive
Recurrent ulcer
Eosinophilic esophagitis
Clostridium difficile infection
Infantile malignant osteopetrosis
NGLY1 deficiency
Autoimmune gastritis
Non-ST Elevated Myocardial Infarction
Anthracosis
Cytogenetically normal acute myeloid leukemia
Dihydrotestosterone Assay
Testosterone measurement
Hypocalciuria
Magnesium Deficiency
Hypomagnesemia
Primary hypomagnesemia (disorder)
Hypomagnesemia 2, renal
Malignant hyperpyrexia due to anesthesia
Premenstrual Tension
Central Core Myopathy (disorder)
Brody myopathy
Acrokeratosis
Stunned Myocardium
Myocardial Stunning
Acrokeratosis Verruciformis of Hopf
major affective disorder
Hypertrophy of parotid gland
Hibernation, Myocardial
Palmar pit
Ridged nails
Acantholytic Dyskeratotic Epidermal Nevus
Anal mucosal leukoplakia
Darier Disease, Acral Hemorrhagic Type
Darier Disease, Segmental
Plantar pits
Subungual hyperkeratotic fragments
heart rate
blood phenylalanine measurement by Guthrie microbiologic assay
Deafness, Autosomal Recessive 12
Niemann-Pick Disease, Type A
SPINOCEREBELLAR ATAXIA, X-LINKED 1
Spinocerebellar Ataxia, X-Linked 5
Abnormality of the cerebral cortex
Malaria, antepartum
Congenital long QT syndrome
Gastric Neuroendocrine Tumor
Hyper-beta-alaninemia
Complex V deficiency
Mitochondrial Respiratory Chain Deficiencies
Increased blood alanine
Increased serum alanine
Mitochondrial encephalopathy
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
Pendred's syndrome
Superficial spreading malignant melanoma of skin
Pigment dispersion syndrome (disorder)
Deficiency of glutamate decarboxylase
Usher Syndrome, Type I
EPILEPSY, PYRIDOXINE-DEPENDENT
Prenatal movement abnormality
Usher syndrome, type 1A
Folinic acid responsive seizure syndrome
Neonatal respiratory distress
Respiratory complex deficiency, ATPase deficiency
Leigh Disease
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
3-Methylglutaconic Aciduria
Decreased activity of mitochondrial ATP synthase complex
Dandy-Walker Syndrome
Histoplasmosis
Cutis Laxa, Autosomal Recessive, Type IIA
Coarse hair
Generalized joint laxity
Psychomotor deterioration
Redundant neck skin
Infantile muscular hypotonia
Prominent nasolabial fold
Subretinal pigment epithelium hemorrhage
Abnormal isoelectric focusing of serum transferrin
Prominent veins on trunk
Thick cerebral cortex
Rough hair texture
Thick hair
Fragmented elastic fibers in the dermis
Abnormal apolipoprotein level
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
Compensated acidosis
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
Lymphoma, Mixed-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular
Hidrotic Ectodermal Dysplasia
Micronychia (disorder)
ANONYCHIA
Synophrys
Zimmerman Laband syndrome
Underdeveloped nasal alae
Deep philtrum
Thick eyebrow
Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 2
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Myeloperoxidase Measurement
Depressed philtrum
Prominent nasal septum
ZIMMERMANN-LABAND SYNDROME 2
Visible nasal septum
Low hanging nasal septum
Entropion
Flatfoot
Tooth Crowding
Tricuspid Valve Insufficiency
Hand clenching
Acquired flat foot
Cat eye syndrome
Flexion contracture of the knee
Small nostrils
Narrow nostrils
Bilateral Cryptorchidism
Tooth size discrepancy
Naris, slit-like
Broad columella
Reduced subcutaneous adipose tissue
Hyperplasia of columella
Collapsed nostrils
Tooth mass arch size discrepancy
Inadequate arch length for tooth size
Pallister-Hall syndrome
FICOLIN 3 DEFICIENCY
IMMUNODEFICIENCY 47
Disorder of copper metabolism
Hemolysis (disorder)
Menkes Kinky Hair Syndrome
Neurologic Manifestations
Venous Insufficiency
Bladder Diverticulum
Hypopigmentation disorder
Intravascular hemolysis
Hyperextensible skin
Velvety skin
Hypocupremia
Cutis laxa, x-linked
Extravascular Hemolysis
Osseous ankylosis
Sialuria
Wooly hair
Neurological observations
Narrow thorax
Congenital hypoplasia of clavicle
Broad clavicle
Neurologic Deficits
Redundant skin
Aortic Aneurysm, Ruptured
Focal Neurologic Deficits
Generalized osteopenia
Neurologic Dysfunction
Neurologic Signs
Ehlers-Danlos syndrome type IX
Sialic Acid Storage Disease, Finnish Type (disorder)
Disorder of face
Tortuous carotid artery
Short humerus
Metaphyseal spurs
Poor suck
Long neck
Short palm
Soft skin
Pelvic bone exostoses
Limited knee extension
Spinal Muscular Atrophy, Distal, X-Linked 3
Persistent open anterior fontanelle
Prominent occiput
Capitate-hamate fusion
Limited elbow extension
Generalized elastolysis
Hiatal Hernia
Joint hyperflexibility
Aneurysmal disease
Abnormality of the sense of smell
Abnormality of the wrist
Abnormality of the palate
Abnormal carotid artery morphology
Abnormal peripheral nervous system morphology
Abnormality of the face
Kinky hair texture
Nappy hair texture
Afro-textured hair
Hanging skin
Prominent back of the head
Back Pain
Hand deformities
Heart Neoplasm
Kayser-Fleischer ring
Increased body mass index
Clumsiness
Personality change
Indian childhood cirrhosis
Renal tubular defect
Hypersexuality state
Sex addiction
Ceruloplasmin deficiency
Range of joint movement increased
Poor motor coordination
Atypical or prolonged hepatitis
High nonceruloplasmin-bound serum copper
Proximal muscle weakness in lower limbs
Endemic Tyrolean Infantile Cirrhosis
Menstrual abnormalities
Mixed demyelinating and axonal polyneuropathy
Abnormality of the menstrual cycle
Oropharyngeal Neoplasms
Urologic Neoplasms
Dubowitz syndrome
Russell-Silver syndrome
Aarskog syndrome
Williams Syndrome
Robinow Syndrome
Congenital dislocation of radial head
Xeroderma pigmentosum, group F
Cornelia De Lange Syndrome
Carcinoma in situ of endometrium
Congenital malformation syndromes associated with short stature
Globe of eye large
Single transverse palmar crease
Primary microcephaly
Dysmorphic features
Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder
Cancer of Urinary Tract
Juberg-Marsidi syndrome
Talipes
Facial asymmetry
Chromosome Instability Syndromes
11 pairs of ribs
Sandal gap
SECKEL SYNDROME 2
Absent earlobe
Methylmalonic aciduria cblB type
Large eyes
Ivory epiphyses
Prematurely aged appearance
Small anterior fontanelle
Large basal ganglia
Hypoplasia of proximal radius
Hypoplasia of proximal fibula
Cone-shaped epiphyses of the phalanges of the hand
Abnormal finger flexion creases
Cone-shaped epiphysis
Selective tooth agenesis
SECKEL SYNDROME 5
Infiltrating duct carcinoma of female breast
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
Talipes foot deformities
SECKEL SYNDROME 6
SECKEL SYNDROME 7
SECKEL SYNDROME 4
SECKEL SYNDROME 8
Abnormality of dental enamel
Reduced number of teeth
Tooth agenesis
Absence of a tooth
Dystrophic tooth enamel
Increased size of palpebral fissures
Defective tooth enamel
Herpesviridae Infections
Penile Diseases
Rubinstein-Taybi Syndrome
Thoracic Diseases
Urogenital Abnormalities
Talipes Calcaneovalgus
Epithelioid hemangioendothelioma
Intermittent diarrhea
Protrusion of tongue
Intermittent abdominal pain
Coffin-Lowry syndrome
Adult Synovial Sarcoma
Childhood Synovial Sarcoma
Epithelioid hemangioendothelioma, malignant
Pleomorphic Xanthoastrocytoma
Perimembranous ventricular septal defect
Abnormal hemoglobin finding
Immunodeficiency syndrome, variable
Tapering fingers (finding)
Unilateral Cryptorchidism
Generalized pruritus
Congenital absence of kidney
Alpha-Thalassemia Myelodysplasia Syndrome
Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Mental retardation Smith Fineman Myers type
Abnormality of blood and blood-forming tissues
Pancreatic Endocrine Carcinoma
adult astrocytic tumors
Abdominal Cryptorchidism
Inguinal Cryptorchidism
Paroxysmal bursts of laughter
Triangular nasal tip
Tented upper lip vermilion
Lower limb hypertonia
MENTAL RETARDATION, X-LINKED 52
Tented upper lip
Hypoplastic myelodysplasia
Flat face
Tented mouth
Absent frontal sinuses
U-Shaped upper lip vermilion
Hypoplastic philtrum
Slender finger
Shawl scrotum
Hematopoetic Myelodysplasia
Severe alpha thalassemia
Triple gene defect alpha thalassemia
Hemoglobin H Constant Spring
Hemoglobin H Disease
Hydrops fetalis due to alpha thalassemia
Episodic abdominal pain
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
Abnormality of fontanelles
Reduced alpha/beta synthesis ratio
Childhood Astrocytoma
Aplasia of frontal sinus
Hematological abnormality
Anhidrosis
Hereditary Sensory Autonomic Neuropathy, Type 2
Paronychia Inflammation
Peripheral edema
Hypogeusia
Edema of eyelid
Leg edema
Ankle clonus
Edema of lower extremity
Pain Disorder
Monoparesis - leg
Abnormal ocular motility
Morvan's Disease
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
Acro-Osteolysis
Lower limb spasticity
Cavitation
Dystrophic toenail
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
Lower limb muscle weakness
Lower limb hyperreflexia
Painless fractures due to injury
Impaired saccades
Decreased sensory nerve conduction velocity
PEHO syndrome
Biparietal narrowing
Progressive spastic paraplegia
Episodic hyperhidrosis
Decreased number of peripheral myelinated nerve fibers
Acral ulceration leading to autoamputation of digits
Reduced bone mineral density
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
Dystrophic fingernails
Infantile Spasm
Abnormality of the hip bone
Leg muscle stiffness
Atrophy/Degeneration affecting the brainstem
Lower limb amyotrophy
Abnormality of the ankles
Abnormality of the knee
Foot acroosteolysis
Abnormality of saccadic eye movements
Abnormality of upper lip
Decreased width of the skull
Reduced concentration span
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-Methylglutaconic aciduria type 1
Easily distracted
Cocaine withdrawal
Cruveilhier-Baumgarten Syndrome
Dysmenorrhea
Dysthymic Disorder
Gliosis
Hypovolemic Shock
Inappropriate ADH Syndrome
Nocturia
Psychosis, Brief Reactive
Shock
Wolfram Syndrome
Emotional Stress
Mixed sensory-motor polyneuropathy
Mild hereditary factor VIII deficiency disease
Familial central diabetes insipidus
Depressed mood
Psychogenic polydipsia
familial alcoholism
Pulmonary Pathology
Eating disorder symptom
Hyponatraemic
Water Stress
Acth-Independent Macronodular Adrenal Hyperplasia
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE
Perinatal depression in mother
Adipsic Diabetes Insipidus
Adrenal hypertrophy or hyperplasia
Agnosia for Pain
ACTH Syndrome, Ectopic
Enuresis
Oliguria
Azotemia
Prerenal uremia syndrome
Genetic Diseases, X-Linked
Hypophosphatemic Rickets
Elevated systolic blood pressure
Decreased circulating renin level
Rickets, X-Linked Hypophosphatemic
Hypernatriuria
Adult Rickets
Adult Leiomyosarcoma
Childhood Leiomyosarcoma
Schwannomatosis, Plexiform
Mesenchymal Glioblastoma
POLYARTERITIS NODOSA, CHILDHOOD-ONSET
Aniridia
Red Blood Cell Count measurement
Constitutional Symptom
Hypoproteinemia
Paraproteinemias
Xerophthalmia
Hemodialysis-associated amyloidosis
Common acute lymphoblastic leukemia
Chronic constipation
Undifferentiated Neuroblastoma
Gastrointestinal dysmotility
Bare Lymphocyte Syndrome, Type I
Radial bowing
Orthostatic hypotension due to autonomic dysfunction
Reproductive tract infection
Keratitis sicca
Neuroepithelioma, Peripheral
Autonomic bladder dysfunction
Autosomal dominant beta2-microglobulinic amyloidosis
Steatorrhea
von Willebrand Disease, Type 3
Hypercholanemia, Familial
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
maternal hyperglycemia
Increased serum bile acid concentration
Color Blindness, Blue
Adrenal Gland Hyperfunction
MRSA - Methicillin resistant Staphylococcus aureus infection
Periampullary Adenocarcinoma
Progressive spastic paraparesis
Empyema
Paramyotonia Congenita (disorder)
Childhood Acute Promyelocytic Leukemia with PML-RARA
Hip joint varus deformity - observation
Pyle metaphyseal dysplasia
Enlarged epiphyses
Protuberant abdomen
Hypoplastic ilia
Delayed mineralization of pubic bone
Delayed pubic bone ossification
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Abnormal vertebral ossification
Abnormality of the epididymis
Pseudoepiphyses of hand bones
Delayed maturation fo pubic bone
Small wings of the pelvic girdle
Abnormality of the fallopian tube
Primary peritoneal carcinoma
Arteriovenous fistula
Morphine Dependence
Osteomyelitis
Other specified senile psychotic conditions
Lichen Planus, Oral
Gastric dysplasia
Rhegmatogenous retinal detachment
Severe hereditary factor VIII deficiency disease
Stage III Colon Cancer
Fibrous bands
Endometrioid carcinoma ovary
Adrenal Cancer
AIDS-Related Primary Effusion Lymphoma
Burkitt-like lymphoma
Type I Endometrial Adenocarcinoma
AIDS-related small noncleaved cell lymphoma
Stage III Colon Cancer AJCC v7
Biliary Tract Diseases
Syndactyly
Polydactyly of toes
Cohen syndrome
Biliary tract abnormality
Poor coordination
Congenital hypoplasia of ovary
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Hypoplastic ovary
Gait imbalance
DIABETES MELLITUS, INSULIN-DEPENDENT, 4
Broad foot
Bardet-Biedl syndrome 1 (disorder)
Congenital cerebral hernia
Congenital anomaly of the kidney
Posterior polar cataract
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 2 (disorder)
BARDET-BIEDL SYNDROME 2/6, DIGENIC
BARDET-BIEDL SYNDROME 2/4, DIGENIC
BARDET-BIEDL SYNDROME 1/2, DIGENIC
RETINITIS PIGMENTOSA 74
Bardet-Biedl syndrome 4 (disorder)
Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease
Valinemia
Hyperleucine-Isoleucinemia
Maple Syrup Urine Disease, Thiamine Responsive
Intermediate Maple Syrup Urine Disease
Amnestic Disorder
Cocaine intoxication
Tonic-Clonic Epilepsy
Mastodynia
Postoperative Complications
Psychological pseudocyesis
Trismus
Induced apnea
Cocaine-Related Disorders
Masseter Muscle Spasm
Adult-onset obesity
Pseudocholinesterase deficiency
Monoparesis
Lockjaw
Prolonged neuromuscular block
Fasciculation, Skeletal Muscle
Cryptogenic Tonic-Clonic Epilepsy
Epilepsy, Tonic-Clonic, Familial
Epilepsy, Tonic-Clonic, Symptomatic
Fasciculation, Benign
Upper Extremity Paresis
Lower Extremity Paresis
Cardiotoxicity
Gestational Trophoblastic Neoplasms
Pseudocholinesterase Measurement
Butyrylcholinesterase deficiency
Attention deficit-hyperactivity
Suxamethonium sensitivity
Bamforth syndrome
Acholinesterasemia
Apnea, Postanesthetic
Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
Hypocholinesterasemia, Fluoride-Resistant, Japanese Type
Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate
Gestational trophoblastic disease
BCHE, FLUORIDE 1 PHENOTYPE
BCHE, FLUORIDE 2 PHENOTYPE
BCHE, K VARIANT PHENOTYPE
BCHE, J VARIANT PHENOTYPE
BCHE, H VARIANT PHENOTYPE
BCHE NEWFOUNDLAND PHENOTYPE
BCHE, SILENT 1 PHENOTYPE
BCHE CYNTHIANA PHENOTYPE
BCHE JOHANNESBURG PHENOTYPE
APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1
BCHE, DIBUCAINE-RESISTANT I PHENOTYPE
CHE*70G PHENOTYPE
BCHE*70G PHENOTYPE
BCHE ANN ARBOR PHENOTYPE
CHE*FS117 PHENOTYPE
BCHE*FS117 PHENOTYPE
BCHE, FLUORIDE-RESISTANT I PHENOTYPE
CHE*243M PHENOTYPE
BCHE*243M PHENOTYPE
BCHE, FLUORIDE-RESISTANT II PHENOTYPE
CHE*390V PHENOTYPE
BCHE*390V PHENOTYPE
BCHE, QUANTITATIVE K POLYMORPHISM PHENOTYPE
CHE*539T PHENOTYPE
BCHE*539T PHENOTYPE
BCHE, QUANTITATIVE J VARIANT PHENOTYPE
BCHE, QUANTITATIVE H VARIANT PHENOTYPE
BCHE*FS126 PHENOTYPE
Primary gout
Ketonemia
Maple Syrup Urine Disease, Type IA
MAPLE SYRUP URINE DISEASE, TYPE II
Maple syrup urine disease, type 1B
MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA
Elevated plasma branched chain amino acids
Alzheimer Disease 12
MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
Apert syndrome
Anus Neoplasms
Cecal Neoplasms
Coxsackievirus Infections
Epithelial hyperplasia
Nodular Goiter
Giant Cell Granuloma
Lichen Sclerosus et Atrophicus
Small Cell Lymphoma
Multiple Endocrine Neoplasia
Ovarian Diseases
High Grade Lymphoma (neoplasm)
Malignant neoplasm of cecum
Malignant tumor of parathyroid gland
Papilloma, Squamous Cell
Thymic Carcinoma
Adenomyoma
Verrucous carcinoma
Nevus, Blue
Epithelioid and spindle cell nevus
Cyclic neutropenia
Metaphyseal chondrodysplasia
Mongolian Spot
Hyperproteinemia
Parathyroid hyperplasia
Virchow's node (disorder)
Non-small cell lung cancer stage III
Adenoid cystic carcinoma of salivary gland
stage, endometrial cancer
Squamous cell carcinoma of vulva
Papillary cystic tumor
Papillary serous cystadenocarcinoma
Malignant lymphoma - lymphoplasmacytic
Endometrial Stromal Tumors
Jaw Keratocyst
Stage 0 Skin Melanoma
Malignant melanoma of ciliary body
Trisomy 11
Leukemia, Prolymphocytic, B-Cell
mantle lymphoma
CARCINOMA OF VULVA
extranodal lymphoma
Serum creatinine raised
hyperparathyroid
psychosocial stressor
impaired motor coordination
premalignant lesion
Bile duct cancer resectable
Synovial sarcoma metastatic
Genomic Instability
Plasma cell dyscrasia
Persistent infection
Cutaneous lymphoma
Atypical polypoid adenomyoma
Adult Diffuse Large B-Cell Lymphoma
Childhood Diffuse Large B-Cell Lymphoma
Gastric Precancerous Condition
Head and Neck Basaloid Carcinoma
Intermediate Grade Ductal Breast Carcinoma In Situ
Low Grade Ductal Breast Carcinoma In Situ
Mature B-Cell Non-Hodgkin Lymphoma
Centrocytic lymphoma
Low Grade Cervical Squamous Intraepithelial Neoplasia
Ductal Breast Carcinoma
Papillary Thyroid Microcarcinoma
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type
HYPERPARATHYROIDISM 1
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
HYPERTRICHOSIS, CONGENITAL GENERALIZED
HYPERPARATHYROIDISM 3
Peroxisome Biogenesis Disorder, Complementation Group H
Plasma Cell Neoplasm
Endometrial stromal sarcoma, high grade
Adrenal incidentaloma
Monoclonal B-Cell Lymphocytosis
Lentigo maligna melanoma
Endometrial sarcoma
Esophageal Spindle Cell Carcinoma
Palisaded myofibroblastoma
Atopic rhinitis
Melanoma, B16
Cervical dysplasia
Cryoglobulinemia
Dermatitis Herpetiformis
Dyschondroplasias
Folic Acid Deficiency
Leg Ulcer
Leukemia, Mast-Cell
Lichen Planus
Lymphoma, Mixed-Cell
Lymphoma, Undifferentiated
Mastocytoma
Melnick-Needles Syndrome
Night sweats
Cartilaginous exostosis
Parotid Neoplasms
Bullous pemphigoid
Priapism
Rabies (disorder)
Localized scleroderma
Starvation
Thoracic Outlet Syndrome
Tumor Lysis Syndrome
Genitourinary Neoplasms
Lymphoma, Intermediate-Grade
Diffuse Mixed-Cell Lymphoma
Lymphoma, Small Noncleaved-Cell
Lymphoma, AIDS-Related
Codependency
Leiomyoma, Epithelioid
Intracranial Hypertension
Coronary Occlusion
Disuse osteoporosis
Uterine Polyp
Porphyria Cutanea Tarda
Focal Epithelial Hyperplasia
Mesenchymal Chondrosarcoma
Fibroadenoma
Central Neurocytoma
Inverted Papilloma
Adult Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma
Adult Acute Myeloblastic Leukemia
Renal Pelvis and Ureter Urothelial Carcinoma
Pseudolymphoma
Proliferative glomerulonephritis
Primary cerebral lymphoma
Epithelial inclusion cyst
Holt-Oram syndrome
Juvenile hemochromatosis
Muscular Dystrophy, Oculopharyngeal
Myelokathexis
Stage III Breast Cancer AJCC v6
refractory plasma cell neoplasm
Small cell lung cancer limited stage
Childhood T Acute Lymphoblastic Leukemia
Refractory anemia with excess blasts in transformation (clinical)
Intraocular Lymphoma
Myomatous neoplasm
Malignant lymphoma centroblastic, diffuse
Squamous intraepithelial lesion
Intraepithelial Squamous Cell Carcinoma
Squamous cell carcinoma, keratinizing
Synovial sarcoma, spindle cell
Mast Cell Neoplasm
Sebaceous adenocarcinoma of eyelid
Venous hypertension
Essential mixed cryoglobulinemia
Gastric Carcinoid Tumor
Atypical Endometrial Hyperplasia
Laryngeal papillomatosis
Histiocytic Necrotizing Lymphadenitis
Adolescent idiopathic scoliosis
Van Buchem disease
Simple Endometrial Hyperplasia
High grade B-cell lymphoma
Endometrioid tumor
Mixed cryoglobulinemia
Oropharynx (excludes nasopharynx)
Urinary outflow obstruction
gastritis h pylori
Stage I Endometrial Carcinoma
In situ cancer
Recurrent Non-Hodgkin Lymphoma
Non-Hodgkin's lymphoma transformed recurrent
Monocytoid B-cell lymphoma
B Lymphoblastic Lymphoma
Euthymia
Leukoplakia of oral mucosa, incl tongue
Hepatic lymphoma
Low Grade Prostatic Intraepithelial Neoplasia
Follicular non-Hodgkin's lymphoma, large cell
Enterochromaffin-like cell carcinoid
Thymoma, type A
Thymoma, type B2
Angiomyofibroblastoma
Extraskeletal Myxoid Chondrosarcoma
Breast Fibrocystic Change, Proliferative Type
Cutaneous Follicular Lymphoma
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Recurrent Follicular Lymphoma
Paget Disease
carcinoma of the renal pelvis and ureter
Placental dysfunction
High Grade B-Cell Non-Hodgkin's Lymphoma
Morphea
Delayed Graft Function
Atypical Burkitt's lymphoma
Columnar Cell Hyperplasia of the Breast
Keratocystic Odontogenic Tumor
Persistent Polyclonal B-Cell Lymphocytosis
Kaposi's sarcoma-associated herpesvirus infection
Angioma, Cavernous
Sindbis virus infection
Benign Mastocytoma
Chronic idiopathic neutropenia
Pediatric follicular lymphoma
Thrombotic Microangiopathies
Corneal Dystrophy, Subepithelial Mucinous
Non-follicular lymphoma
Fetal Alcohol Spectrum Disorders
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Stage III Breast Cancer AJCC v7
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
Ulcerative Colitis-Associated Colorectal Adenocarcinoma
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Lymphoma, Diffuse
Pre-renal acute kidney injury
Intestinal-Type Sinonasal Adenocarcinoma
Insulin Sensitivity Measurement
Secondary Peripheral Chondrosarcoma
Rat Adrenal Gland Pheochromocytoma
Monocytic leukemia
Chondroma
Thymus Neoplasms
Lymphoepithelioid lymphoma (clinical)
Immunoproliferative Small Intestinal Disease
Otitis Media with Effusion
Pneumonia, Viral
T-Lymphocytopenia, Idiopathic CD4-Positive
HTLV Infections
Lymphoid interstitial pneumonia
stage, chronic lymphocytic leukemia
Infantile fibrosarcoma
Composite Lymphoma
Post-transplant lymphoproliferative disorder, polymorphic
AIDS-Related Non-Hodgkin Lymphoma
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Sporadic Burkitt's lymphoma
Astler-Coller B1 Rectal Carcinoma
Primary cutaneous large B-cell lymphoma of the leg
Hodgkin lymphoma, nodular lymphocyte predominance
Gastrointestinal Diseases
Epilepsy, Generalized
Idiopathic generalized epilepsy
Familial Epilepsies
Bullous keratopathy
X-linked agammaglobulinemia
Blue/yellow color vision defect
Dichromacy
Abnormal light-adapted electroretinogram
Myeloid Metaplasia
Neurofibromatosis 2
Skin lesion
Premature Birth
Recurrent Adult Acute Lymphoblastic Leukemia
High grade T-cell lymphoma
Oropharyngeal candidiasis
Non-Hematologic Malignancy
Therapy-related myelodysplastic syndrome
Treatment related acute myeloid leukaemia
Chromosome 22q11.2 Deletion Syndrome, Distal
Fetal Diseases
Serum iron raised
Increased serum ferritin
Brittle hair
Pili Torti
Pili torti-deafness syndrome
Adult Fanconi syndrome
Ubiquinone dehydrogenase deficiency
Increased ferritin
Encephalopathy, Subacute Necrotizing, Infantile
Encephalopathy, Subacute Necrotizing, Juvenile
Decreased transferrin saturation
Increased CSF lactate
Abnormal pattern of respiration
Chronic lactic acidosis
Microvesicular hepatic steatosis
Leigh Syndrome due to Mitochondrial Complex III Deficiency
Reduced tensile strength of hair
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
GRACILE SYNDROME (disorder)
Fragile hair
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
Hyperferritinaemia
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
Elevated hepatic iron concentration
Decreased mitochondrial complex III activity in liver tissue
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Fractured hair
Amyotrophic Lateral Sclerosis 4, Juvenile
Uncinate Epilepsy
Acute mountain sickness
Epilepsy, Benign Psychomotor, Childhood
Epilepsy, Lateral Temporal
Extravasation of Contrast Media
Extravasation of Diagnostic and Therapeutic Materials
Affective Disorders, Psychotic
Affective Symptoms
Alexithymia
Body Weight
child abuse behavior
Conversion disorder
Dissociative disorder
Eating Disorders
Emotional Disturbances
Fetal Macrosomia
Hyperphagia
Low Back Pain
Oppositional Defiant Disorder
Schizophrenia, Catatonic
Residual schizophrenia
Tinnitus
Violence
Wernicke Encephalopathy
Somatization
Primary dysmenorrhea
Hypertensive Encephalopathy
Rumination Disorders
Other specified manifestations of hyperkinetic syndrome
WAGR Syndrome
Depression, Postpartum
respiratory abnormalities
Chronic abdominal pain
Self-induced vomiting
Feeling despair
Thinking and speaking disturbances
Obsessions
Mania acute
Infectious colitis
Uterine Corpus Sarcoma
Psychotic episodes
Hypothalamic hamartomas
Depressive episode, unspecified
Fetal Hypoxia
Diagnosis, Psychiatric
Compulsive hoarding
Progressive pseudorheumatoid dysplasia
Ichthyosis Bullosa of Siemens
Intrapartum fetal hypoxia
Chronic low back pain
Premenstrual Dysphoric Disorder
Delinquent behavior
Analgesic Overuse Headache
Chronic depression
clinical anxiety
heroin abuse
Emotional abuse
psychiatric hospitalization
Post-Traumatic Vegetative State
Adult-Onset Dystonias
Degeneration of spine
Impulsive aggression
Anxiety symptoms
Adult attention deficit hyperactivity disorder
social stress
Hypersomnia
Vegetative State
High weight
Desmoplastic melanoma
Paranoia
Depression and Suicide
Methamphetamine dependence
Early onset schizophrenia
Native American myopathy
Hypotrichosis simplex
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Deletion 11p13
Central Nervous System Sensitization
Post stroke depression
Cannabis use
Hypoventilation
Chronic cerebrovascular accident
Acute disseminated encephalitis
Reversible cerebral vasoconstriction syndrome
OTOFACIOCERVICAL SYNDROME 1
Depression in children
Central Apnea
Astrocytosis
Direct Extension
Displacement of the external urethral meatus
Aplasia/Hypoplasia of the iris
Hearing abnormality
Feeding and Eating Disorders
Heroin Smoking
Necrotizing Ulcerative Gingivitis
Anterior uveitis
Postpartum Thyroiditis
Bacterial sepsis
Acute anterior uveitis
Recurrent meningococcal disease
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
Atypical Hemolytic Uremic Syndrome
MACULAR DEGENERATION, AGE-RELATED, 14
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF
COMPLEMENT FACTOR B DEFICIENCY
Decreased serum complement factor B
C3 Glomerulonephritis
Nuclear cataract
Nuclear non-senile cataract
Cataract, posterior polar, 3
Cataract, Cortical, Juvenile-Onset
CATARACT 33, MULTIPLE TYPES
Osteoarthritis of hip
Osteoarthropathy, Primary Hypertrophic
Idiopathic osteoporosis
Saethre-Chotzen Syndrome
Ossifying Fibroma
Warfarin syndrome
Ocular Cicatricial Pemphigoid
Primary testicular failure
Osteofibrous Dysplasia
SPINOCEREBELLAR ATAXIA 29
Dental fluorosis
Craniofacial Dysostosis
Dissecting aortic aneurysm
Polyostotic fibrous dysplasia
Urinary Stress Incontinence
Cleft uvula
Idiopathic crescentic glomerulonephritis
Scleroatonic muscular dystrophy
Radial deviation of hand
Short phalanx of finger
Short metacarpal
Posterior rib cupping
Flat acetabular roof
PROPERDIN DEFICIENCY, X-LINKED
Delayed ossification of carpal bones
Broad metacarpals
Spondyloepimetaphyseal Dysplasia, X-Linked
Narrow pelvis bone
Long ulna
Long fibula
Short long bone
Broad phalanx
Cone-shaped metacarpal epiphyses
Craniofacial dysostosis type 1
Anterior wedging of T12
Anterior wedging of T11
Broad long bone diaphyses
Cone-shaped epiphyses fused within their metaphyses
Prominent styloid process of ulna
Delayed maturation of wrist bone
MEESTER-LOEYS SYNDROME
Transitional cell carcinoma in situ
Serum selenium measurement
Opisthorchis Viverrini-Related Cholangiocarcinoma
Acute periodontitis
Truncus Arteriosus, Persistent
Neoplasms, Second Primary
Indifference to Pain, Congenital, Autosomal Recessive
Cytokine Measurement
Maturity-onset diabetes of the young, type 11
Rothmund-Thomson syndrome
Hand polydactyly
High pitched voice
developmentally delayed
Prominent ear
DERMATITIS HERPETIFORMIS, FAMILIAL
Agenesis of maxillary lateral incisor
Protruding ear
Spotty hypopigmentation
Spotty hyperpigmentation
Hypoplasia of the zygomatic bone
Facial telangiectasia in butterfly midface distribution
Small cheekbone
Absent upper lateral incisors
Atypical Werner syndrome
Hypotrophic cheekbone
Flattening of the zygomatic bone
Depressed cheekbone
Germ Cell Cancer
Biliary Cirrhosis, Secondary
Genital infection
HYPERBILIVERDINEMIA
Overnutrition
Nutrition Disorders
Cervical polyp
Wasting
Thrombocytopenia due to platelet alloimmunization
Poikiloderma of Kindler
Mantle cell lymphoma refractory
Basal-Like Breast Carcinoma
Langer-Giedion Syndrome
Epidermolysis Bullosa Dystrophica
Osteoid formation disorder
Osteogenesis imperfecta type III (disorder)
Pneumocystis Infections
OSTEOGENESIS IMPERFECTA, TYPE XIII
Fracture
Otosclerosis
Acrocephaly
Root Resorption
Somatotropin deficiency
Fracture, spiral
Benign neoplasm of lung
Idiopathic osteoarthritis
Sagittal craniosynostosis
Generalized osteoarthritis
BRACHYDACTYLY, TYPE A2
Synostotic Posterior Plagiocephaly
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
Radial deviation of the 2nd finger
Ulnar deviation of the 2nd finger
Brachydactyly type A3
Short 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Medially deviated second toe
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
Broad hallux
Synostotic Anterior Plagiocephaly
Narrowing
Aplasia/Hypoplasia of the middle phalanges of the toes
Triangular shaped middle phalanx of the 2nd finger
Bracket epiphysis of the middle phalanx of the 2nd finger
Bracket epiphysis of the middle phalanx of the 5th finger
Triangular shaped middle phalanx of the 5th finger
20p12.3 microdeletion syndrome
Agenesis
Bronchiolitis Obliterans
Mucopolysaccharidosis I
Musculoskeletal Diseases
Hyperphosphatemia (disorder)
Unilateral agenesis of kidney
5,10-Methylenetetrahydrofolate reductase deficiency
Microprolactinoma
Macroprolactinoma
Senile sclerosis of aortic cusp
Small scrotum
Other congenital malformations of anterior segment of eye
Cleft face
Cleft Palate-Lateral Synechia Syndrome
Barrett Epithelium
Hypertrophic obesity
Non-Neoplastic Urinary System Disorder
Dysmorphism
Cleft Lip, Congenital Healed
Cystic renal dysplasia
Uplifted earlobe
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
Frias syndrome
orthopedic disorders
OROFACIAL CLEFT 11
AXENFELD-RIEGER SYNDROME, TYPE 3
Congenital anomaly of anterior segment of eye
Sclerosteosis
Vital Capacity Adverse Event
Femoral Fractures
Sirenomelia
Spinal Stenosis
Degenerative spondylolisthesis
Corneal fibrosis
Adult Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
Ebstein Anomaly
Bannayan-Riley-Ruvalcaba Syndrome
Anomalous atrioventricular excitation
Arnold-Chiari Malformation, Type I
POLYPOSIS SYNDROME, HEREDITARY MIXED, 1
JUVENILE POLYPOSIS OF STOMACH
BRACHYDACTYLY, TYPE A1 (disorder)
Polyposis Syndrome, Hereditary Mixed, 2
Chromosome 10q23 Deletion Syndrome
COLORECTAL CANCER, SUSCEPTIBILITY TO, 4
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15
Bmpr1a-Related Juvenile Polyposis
Smad4-Related Juvenile Polyposis
Familial Colorectal Cancer Type X
Juvenile colonic polyposis
Limb Deformities, Congenital
Ulnar deviation of the fingers
Short finger
Chondrodysplasia, Grebe type
Tarsal Coalition
Infantile uterus
Chondrodysplasia
Carpal synostosis
Thumb deformity
Brachydactyly syndrome type C
Fibular hypoplasia
Chondrodysplasia, acromesomelic, with genital anomalies
Short femoral neck
Fibular aplasia
Widened proximal tibial metaphyses
Aplasia/Hypoplasia involving the metacarpal bones
Short toe
Hypoplastic finger
Short middle phalanx of finger
Short metatarsal
Short tibia
Short proximal phalanx of thumb
Bowing of the long bones
Aplasia/Hypoplasia of the fibula
Fibular hypoplasia and complex brachydactyly
Short proximal phalanx of finger
Bilateral single transverse palmar creases
Short distal phalanx of the thumb
Acromesomelic dysplasia Hunter-Thompson type
Aplasia/Hypoplasia of the thumb
SYMPHALANGISM, PROXIMAL, 1A
Pinched nasal bridge
Aplasia of the proximal phalanges of the hand
Complete duplication of distal phalanx of the thumb
Short distal phalanx of the 2nd finger
Pseudoepiphyses of the 2nd finger
Aplasia of the middle phalanges of the toes
Aplasia/Hypoplasia of the 1st metacarpal
Stippling of the epiphysis of the distal phalanx of the thumb
Abnormality of tibia morphology
Abnormality of the radius
BRACHYDACTYLY, TYPE A1, D
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
Pinched bridge of nose
Eisenmenger Complex
Hemoptysis
Pulmonary arterial hypertension induced by drug
Raised jugular venous pressure
Vascular occlusion
Pulmonary arterial medial hypertrophy
Elevated right atrial pressure
Increased pulmonary vascular resistance
Pulmonary artery vasoconstriction
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
Pulmonary Hypertension, Primary, Fenfluramine-Associated
Chronic thromboembolic pulmonary hypertension
Right ventricular failure
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
PULMONARY VENOOCCLUSIVE DISEASE 1
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
Intimal fibrosis
Arterial intimal fibrosis
Pulmonary aterial intimal fibrosis
Abnormal thrombosis
Pulmonary venous occlusion
Trichoepithelioma
Manganese Poisoning
Epidermolysis Bullosa
Hereditary Sensory and Autonomic Neuropathies
Epidermolysis Bullosa Simplex Kobner
Junctional Epidermolysis Bullosa
Skin Diseases, Bullous
Atrophic scar
Tuberculosis, Drug-Resistant
Alacrima
Autoimmune skin disease
Inherited neuropathies
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
Limited hip extension
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
Elevated heart rate
Blotching pigmentation of the skin
Duane Retraction Syndrome
Eyelid Diseases
Gynandroblastoma
Hemorrhagic ascites
Thecoma
Disorder of endocrine ovary
Sertoli-Leydig Cell Tumor
Sex Cord-Stromal Tumor
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
Mobius Syndrome
Secondary physiologic amenorrhea
Congenital anomaly of eyelid
Deformity
Malignant Granulosa Cell Tumor
Ovarian gynandroblastoma
Gonadotroph adenoma
Stromal tumor of ovary
Limb defects
Cellular fibroma
Epicanthus inversus
Sertoli-Leydig cell tumor of intermediate differentiation
Adult Type Ovarian Granulosa Cell Tumor
Granulosa Cell Cancer
Null Cell Pituitary Gland Adenoma
PREMATURE OVARIAN FAILURE 3 (disorder)
Cupped ears (finding)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II WITH DUANE RETRACTION SYNDROME
BPES, TYPE I
BPES, TYPE II
Bpes With Ovarian Failure
Bpes Without Ovarian Failure
Bpes With Duane Retraction Syndrome
Increased circulating gonadotropin level
Adult Type Granulosa Cell Tumor
Ovarian Thecoma
Bpes, Type I, Autosomal Recessive
Blepharophimosis syndrome type 1
Blepharophimosis syndrome type 2
Blepharophimosis, Ptosis, and Epicanthus Inversus Type II
Microcystic stromal tumor
Capuchin ears
Abnormality of the breast
Familial erythrocytosis
Deficiency of bisphosphoglycerate mutase
Septicaemia due to gram-negative organism, unspecified
Fallopian Tube Neoplasms
Nonproliferative fibrocystic disease
Genital Neoplasms, Female
Mouth Diseases
Mucocele of appendix
Peritoneal Neoplasms
Thrombasthenia
Adenosis of Breast
Malignant neoplasm of abdomen
Stage 0 Breast Carcinoma
Familial Atypical Multiple Mole-Melanoma
Sebaceous Adenocarcinoma
Difficulty sleeping
adnexal lesion
Xeroderma pigmentosum, group G
Behavioral tic
Carcinoma breast stage I
Breast cancer stage II
Lobular carcinoma in situ of breast
Chromosome Breaks
Non-infiltrating lobular carcinoma
Benign neoplasm of breast
Secondary malignant neoplasm of pancreas
Occult carcinoma
Malignant neoplasm of appendix
Chronic fatigue
Emotional problems
Malignant Female Reproductive System Neoplasm
Postsurgical menopause
Radiation-Induced Cancer
Pelvic Cancer
Medullary carcinoma of breast
Carcinoma of peritoneum
Stage IV Esophageal Squamous Cell Carcinoma
Atypical medullary carcinoma
Primary malignant neoplasm of appendix
Hereditary Ovarian Carcinoma
Locally Metastatic Malignant Neoplasm
Metaplastic breast carcinoma
Breast Microglandular Adenosis
FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP J
BREAST CANCER 3
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II
malignant neoplasm of breast stage I
Li-Fraumeni-Like Syndrome
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
Riddle Syndrome
Multifocal breast carcinoma
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP E
Contralateral Breast Carcinoma
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
TUMOR PREDISPOSITION SYNDROME
Functional intestinal obstruction
High Grade Ovarian Serous Adenocarcinoma
Bundle-Branch Block
Cerebellar Neoplasms
Bile duct adenoma
Anomalous pulmonary artery
Conjunctival Neoplasms
Cystadenoma, Mucinous
Eye Neoplasms
Factor XII Deficiency
Freckles
Hyperprolactinemia
Infratentorial Neoplasms
Mandibular Neoplasms
Pancreatic Cyst
Panniculitis
Papilledema
Senile lentigo
Skin nodule
Struma Ovarii
Juvenile Xanthogranuloma
Granuloma Annulare
Pyogenic granuloma
Hutchinson's Melanotic Freckle
Sprengel deformity
Malignant Uterine Corpus Neoplasm
Secondary malignant neoplasm of skin
Acquired cubitus valgus
Sarcoma, Spindle Cell
Lymphangioma, Cystic
Papillary and follicular adenocarcinoma
Neurofibrosarcoma
Melanoma, Amelanotic
Bitemporal Hemianopia
Lytic lesion
Neck webbing
Premature birth of newborn
Dermatitis acneiform
Pulmonary artery stenosis
Winged scapula
Compound nevus of skin
Open Bite
Actinic cheilitis
Perianal fistula
Adult Angiosarcoma
Childhood Brain Stem Glioma
Metastatic papillary thyroid carcinoma
Adult Craniopharyngioma
Stage III Cutaneous Melanoma AJCC v6
Childhood Solid Neoplasm
Gallbladder adenocarcinoma
Hairy cell leukaemia recurrent
Adult Solid Neoplasm
Ovarian Teratoma
Squamous cell carcinoma of lip
Adult Pilocytic Astrocytoma
Malignant tumor, fusiform cell type
Adenocarcinoma, intestinal type
Tubular adenoma
Tubulovillous adenoma
Serous cystadenoma, borderline malignancy
Struma ovarii, malignant
Hypophysitis
Pituitary gland enlarged
Adenoma of lung
Syringocystadenoma
Acral Lentiginous Malignant Melanoma
Malignant melanoma of conjunctiva
Malignant melanoma of iris
Malignant melanoma of choroid
Amelanotic Skin Melanoma
Pilocytic astrocytoma of cerebellum
Histiocytic syndrome
Sebaceous hyperplasia
Syringocystadenoma Papilliferum
Fine hair
Papillary craniopharyngioma
Adamantinous Craniopharyngioma
Absent eyebrow
Submucous cleft of hard palate
Abnormal dermatoglyphic pattern
Desmoplastic infantile astrocytoma
Electrocardiogram abnormal
Curly hair (finding)
Madarosis of eyebrow
Excessive daytime somnolence
Multiple nevi
Central nervous system lesion
Craniopharyngioma, Child
Rathke Cleft Cysts
MOHR-TRANEBJAERG SYNDROME
Visual Pathway Glioma
endocrine carcinoma
caruncle
Abnormal visual field test
Colorectal cancer recurrent
Electrocardiographic changes
Abnormal platelet function
Malignant melanoma, metastatic
Secondary Adrenal Insufficiency
Chromosome 17 trisomy
Nevus cell nevus
Dendritic Cell Sarcoma, Follicular
Dendritic Cell Sarcoma, Interdigitating
Neoplasm of temporal lobe
Metanephric adenoma
Papillary microcarcinoma
Dysembryoplastic neuroepithelial tumor
Cardio-facio-cutaneous syndrome
Hashimoto-Pritzker syndrome
Desmoplastic spindle and epithelioid cell melanocytic nevus of skin
Myopericytoma
Eruptive melanocytic nevi
Non-toxic nodular goiter
Congenital melanocytic nevus
Desmoplastic infantile ganglioglioma
Multiple lentigines
Adenocarcinoma of the gastroesophageal junction
Barrett's Adenocarcinoma
Congenital Mesoblastic Nephroma
Childhood Ganglioglioma
Chronic Myelomonocytic Leukemia-1
Colorectal Villous Adenoma
Histiocytic and Dendritic Cell Neoplasm
Intracranial Melanoma
Meningeal melanoma
Metastatic Malignant Peripheral Nerve Sheath Tumor
Optic Nerve Astrocytoma
Benign Struma Ovarii
Desmoplastic
Pilomyxoid astrocytoma
Female Pseudo-Turner Syndrome
Dendritic cell neoplasm
Langerhans cell histiocytosis of lung
Colorectal Signet Ring Cell Carcinoma
Papillary carcinoma, clear cell
Abnormal heart beat
Wide spaced nipples
Tongue thrusting
Slow-growing hair
ECG abnormality
Shield chest
Partial to total absence of eyelashes
Thickened helices
Broad chest
Absent eyelashes
Hyperextensibility of the finger joints
Abnormality of coagulation
Frontal lobe hypoplasia
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
Numerous nevi
Anterior creases of earlobe
NEPHROTIC SYNDROME, TYPE 3
Slow decrease in visual acuity
Deep palmar crease
Familial Hypertrophic Cardiomyopathy Type 4
Aplasia/Hypoplasia of the corpus callosum
Multiple palmar creases
Multiple plantar creases
Sparse to absent eyelashes
Superior pectus carinatum
Pectus excavatum of inferior sternum
Failure to thrive in infancy
Limb-girdle muscular dystrophy type 2A
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
ASTROCYTOMA, LOW-GRADE, SOMATIC
Optic nerve dysplasia
Urachal adenocarcinoma
Stage III Cutaneous Melanoma AJCC v7
Papillary tumor of the pineal region
Intramucosal Adenocarcinoma
NOONAN SYNDROME 7
LEOPARD SYNDROME 3
Abnormality of aortic valve
Primary acquired melanosis
Serrated polyp
Filiform Serrated Adenoma
Colorectal Serrated Adenocarcinoma
Decreased visual acuity, slowly progressive
Serrated adenocarcinoma
Familial Nonmedullary Thyroid Cancer
Sparse or absent eyelashes
Low Grade Ovarian Serous Adenocarcinoma
Secondary hypothyroidism
Ovarian low malignant potential tumour
Follicular Variant Thyroid Gland Papillary Carcinoma
CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 4
Low grade serous carcinoma
Nevus sebaceous
Nodular thyroid disease
Familial Nonmedullary Thyroid Gland Carcinoma
Mucosal Melanoma
Childhood Langerhans Cell Histiocytosis
Adult Langerhans Cell Histiocytosis
Defective or absent horizontal voluntary eye movements
Submucous clefting
Enlarged thorax
Abnormal hypothalamus morphology
Intracranial cystic lesion
Severe sensorineural hearing impairment
Neoplasm of the anterior pituitary
Abnormal hair quantity
Hypomelanotic macule
Reduced factor XIII activity
Progressive visual field defects
Trichodysplasia
Abnormality of the spleen
Abnormality of the mitral valve
Scapular weakness
Aplasia of eyebrows
Agenesis of eyebrows
Baby eczema
Aplasia of eyelashes
Failure of development of eyelashes
Brachial Amyotrophic Diplegia
Esophageal Atresia
Tracheoesophageal Fistula
Neoplasms, Bone Tissue
Ovarian cancer stage III
PITUITARY DWARFISM I
Undifferentiated carcinoma of ovary
Malignant tumor of exocrine pancreas
Carcinosarcoma of ovary
Short palpebral fissure
Pancreatic adenocarcinoma metastatic
BRCA1 Syndrome
Hereditary Non-Polyposis Colon Cancer Type 2
Spinal Cord Embryonal Tumor, Not Otherwise Specified
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Bone marrow hypocellularity
Esophageal atresia with or without tracheoesophageal fistula
Familial Atypical Mole Melanoma Syndrome
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
Aplasia/Hypoplasia of the radius
GLIOMA SUSCEPTIBILITY 3
Bilateral Wilms Tumor
Antley-Bixler Syndrome, Autosomal Dominant
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
Chromosomal breakage induced by crosslinking agents
Almond-shaped palpebral fissure
Radial club hand
Familial malignant neoplasm of pancreas
Acephalic spermatozoa
SPERMATOGENIC FAILURE 21
Odontogenic Cysts
Early Hepatocellular Carcinoma
Chikungunya Fever
Zoonoses
Conjunctivitis
Multiple Carboxylase Deficiency
Organic aciduria
Holocarboxylase Synthetase Deficiency
Diffuse cerebral atrophy
Perioral eczema
Recurrent skin infections
Multiple Carboxylase Deficiency, Juvenile-Onset
Diffuse cerebellar atrophy
Metabolic Ketosis
Conjunctivitis, recurrent
Fanconi-Bickel Syndrome
Choroidal Neovascularization
Spinal Cord Vascular Diseases
Spinal Cord Ischemia
Cleidocranial Dysplasia
Hyperphosphatasemia with bone disease
Gastrointestinal mucositis
Pyrophosphate arthritis
Peri-Implantitis
Carcinoma, diffuse type
Arthritis, Infectious
Arthus Reaction
Cellulitis
Chronic gingivitis
Epididymitis
Nasal congestion (finding)
Cor pulmonale
Pyoderma
Skin Diseases, Bacterial
X-linked hypogammaglobulinemia
Glossoptosis
Hyper-IgM Immunodeficiency Syndrome, Type 1
Anti-polysaccharide antibody deficiency
Autosomal agammaglobulinemia with absent B-cells
Humoral immune defect
Autosomal recessive agammaglobulinemia
Panhypogammaglobulinemia
Agammaglobulinemia, non-Bruton type
Enteroviral hepatitis
Small lymph nodes
Enteroviral dermatomyositis syndrome
HYPOAGAMMAGLOBULINEMIA, X-LINKED
Recurrent cutaneous abscess formation
Recurrent enteroviral infections
Lymph node hypoplasia
Infected joint
Posterior displacement of the tongue
Ascites
Warburton Anyane Yeboa syndrome
COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY
Increased nuchal translucency
Neoplasms, Embryonal and Mixed
Gingival Carcinoma
Short sternum
Cancer, Embryonal
Cancer, Embryonal and Mixed
Triangular mouth
Hypodysplasia of the corpus callosum
Cerebral hypoplasia
PREMATURE CHROMATID SEPARATION TRAIT
Microlissencephaly
Chromosomal mosaicism due to mitotic instability
Severe Congenital Microcephaly
Hypoplastic sternum
Premature chromatid separation
Separation Anxiety Disorder
Allergic Conjunctivitis
Prune Belly Syndrome
Ulceration of colon
Fulminant Hepatic Failure with Cerebral Edema
Hepatic Stupor
Stromal keratitis
Separation anxiety disorder of childhood
Chronic Liver Failure
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
Laryngeal Edema
Edema of the tongue
Edema of pharynx
SLE-like symptoms
Acute edema
Symptomatic dermographism
Hereditary C1 esterase inhibitor deficiency - deficient factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Facial edema
allergic symptom
Intestinal edema
Complement Component 4, Partial Deficiency Of
Hereditary Angioedema Type II
Vasculitic neuropathy
Hereditary Angioedema Types I and II
Hereditary Angioedema Type I
Edema of dorsum of hand
Edema of dorsum of hands and feet
Acquired angioedema
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR
Abnormality of the larynx
Abnormality of salivation
Limbal edema
Immune Complex Diseases
Lupus Erythematosus, Cutaneous
Recurrent infections
Decreased serum complement factor I
SYSTEMIC LUPUS ERYTHEMATOSUS 16
Antibody Deficiency Syndrome
Gingival Hemorrhage
Gingival Recession
Premature tooth loss
Ehlers-Danlos Syndrome, Type VIII
Complement deficiency disease
Early tooth exfoliation
Thin skin
Tooth absent
Anodontia of Permanent Dentition
Poor wound healing
Atrophy of alveolar ridges
Palmoplantar cutis laxa
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
Flattening of alveolar margin
Flattening of alveolar processes of jaw
Alveolar bone loss around teeth
Fragile skin
Complement Component C1s Deficiency
Abnormality of complement system
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
Dermatomyositis, Childhood Type
COMPLEMENT COMPONENT 2 DEFICIENCY
Pemphigus
Purpura, Thrombotic Thrombocytopenic
Vasculitis, Hemorrhagic
Rheumatoid Purpura
Purpura, Nonthrombocytopenic
Vasculitis of the skin
Pemphigus Foliaceus
Purpura Hemorrhagica
C3 DEFICIENCY
Immune complex nephritis
Metastatic Malignant Neoplasm to the Leptomeninges
Decreased serum complement C3
Macular Degeneration, Age-Related, 9
Complement C3 Measurement
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
Decreased serum complement C4b
Complement Component 4a Deficiency
Salt-losing congenital adrenal hyperplasia
Bernard-Soulier Syndrome
Fatal Familial Insomnia
Van der Woude syndrome
Vitreous Hemorrhage
Peripheral retinal neovascularization
Vitreoretinopathy
Posterior retinal neovascularization
Large hyperpigmented retinal spots
Meningococcal meningitis
Meningococcemia
Basophilic leukemia
Complement component 5 deficiency
Gonococcal arthritis dermatitis syndrome
Intractable diarrhea
Recurrent meningitis
Primary Peritonitis
Secondary Peritonitis
ECULIZUMAB, POOR RESPONSE TO
Generalized seborrheic dermatitis
Bronchopneumonia
Mesangial proliferative glomerulonephritis
Transient myocardial ischemia
Mannose-Binding Protein Deficiency
Complement Component 6 Deficiency
Factor VIII Deficiency
Complement Component 7 Deficiency
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
Pachymeningitis
Neisseriaceae Infections
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
C8 deficiency
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
Recurrent Neisserial infections
Facial Dermatoses
Favre-Racouchot Syndrome
Opioid-Related Disorders
Opioid abuse
Nodular Elastoidosis
Opiate Addiction
Meningitis, Meningococcal, Serogroup A
Meningitis, Meningococcal, Serogroup B
Meningitis, Meningococcal, Serogroup C
Meningitis, Meningococcal, Serogroup Y
Meningitis, Meningococcal, Serogroup W-135
C9 Deficiency
MACULAR DEGENERATION, AGE-RELATED, 15
Decreased serum complement C9
QRS complex feature
Phospholipid measurement
Total iron binding capacity function
Fatty acid measurement
Iron binding capacity total measurement
Arachidonic acid measurement
Invasive meningococcal disease
Scleral staphyloma
Amyotrophic Lateral Sclerosis With Dementia
Narrow sacrosciatic notch
Proximal femoral metaphyseal irregularity
Thoracic hypoplasia
Spondylometaphyseal dysplasia, axial
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Serum zinc measurement
CARBONIC ANHYDRASE I, GUAM
CARBONIC ANHYDRASE I DEFICIENCY
Tooth Abnormalities
Aseptic necrosis
Fibrillation
Compression of optic nerve
Abnormal mental state
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
Aseptic Necrosis of Bone
Bone infarction
Acute interstitial pneumonia
Extramedullary erythropoiesis
Basal ganglia calcification
Non-specific brain syndrome
Peroxisome Biogenesis Disorder, Complementation Group C
Cranial hyperostosis
Elevated serum acid phosphatase
Renal tubular acidosis, distal, type 3
Periodic hypokalemic paresis
Abnormality of the renal tubule
Thick skull bones
Excessive growth of skull bones
Hypertrophy of cranial bones
Enlargement of skull bones
Retinitis Pigmentosa 17
Ketonuria
Ketoacidosis
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
Decayed, Missing, and Filled Teeth
Paraneoplastic Cerebellar Degeneration
Dialysis disequilibrium syndrome
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4
Acidosis
Vulvar Neoplasms
Malignant neoplasm of vulva
Hyperkalemia
Bilateral glaucoma
Isolated hyperchlorhidrosis
Central areolar choroidal sclerosis
Adult-Onset Vitelliform Macular Dystrophy
Akinetic Petit Mal
Esotropia
Myotonia
Spinocerebellar Degeneration
Symptomatic torsion dystonia
Fragments of torsion dystonia
Titubation
Hallucinations, Auditory
Marie Cerebellar Ataxia
Nystagmus, End-Position
Cerebellar Ataxia, Late Onset
Idiopathic familial dystonia
Idiopathic non-familial dystonia
Other forms of migraine
Downbeat nystagmus
Anticipation, Genetic
Staggering gait
Cerebellar vermis atrophy
Epilepsy, Absence, Atypical
Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 4
Episodic ataxia type 1
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
Saccadic smooth pursuit
Impaired smooth pursuit
Vestibular dysfunction
Abnormal visual pursuit
Enlarged cisterna magna
Spinocerebellar tract degeneration
Infantile nystagmus
Episodic Ataxia, Type 7
Benign paroxysmal torticollis of infancy
EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
Abnormal vestibulo-ocular reflex
Difficulty making arithmetical calculations
Childhood Absence Epilepsy
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
Juvenile Absence Epilepsy
Organic writer's cramp
Head tremor
Axial dystonia
DYSTONIA 23
Familial Periodic Paralysis
Shortened QT interval
Hyperkalemic periodic paralysis
Fasting Hypoglycemia
Reactive hypoglycemia
Chronic atrial fibrillation
periodic paralysis (finding)
Timothy syndrome
Cutaneous syndactyly
Potassium sensitive periodic paralysis
Short Qt Syndrome
Brugada Syndrome 3
Ventricular Fibrillation, Paroxysmal Familial, 1
Myotonic periodic paralysis (familial)
Normokalemic paralysis (familial)
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
response to anticoagulant
J wave
Auriculo-Ventricular Dissociation
Heart Block
Sick Sinus Syndrome
Metabolic alkalosis
Second degree atrioventricular block
Complex partial seizure with impairment of consciousness
Hyperinsulinemic hypoglycemia
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
Abnormal circulating renin
EMG: impaired neuromuscular transmission
Focal myoclonic seizures
Albinism
Retinal depigmentation
Ocular albinism, type II
Mixed Oligodendroglioma-Astrocytoma
Achromasia
Hypoplasia of optic disc
Severe visual impairment
Oguchi disease
CONE-ROD DYSTROPHY, X-LINKED, 3
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
Foveal hypoplasia (finding)
Abnormal light- and dark-adapted electroretinogram
Night Blindness, Congenital Stationary, Type 1A
Night blindness, congenital stationary, type 1
Night blindness, stationary
X-Linked Csnb
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
Cone-rod synaptic disorder, congenital nonprogressive
Complete congenital stationary night blindness
Dull foveal reflex
Difficulty adjusting from light to dark
Incomplete congenital stationary night blindness
Palpitations
Urinary Retention
Thyrotoxicosis with toxic single thyroid nodule
Toxic multinodular goiter
Respiratory Depression
Hyperkalemia, diminished renal excretion
Dropped beats - heart
Congenital Thrombotic Thrombocytopenic Purpura
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Malignant hyperthermia susceptibility type 5
Hypokalemic periodic paralysis type 1
Increased intramyocellular lipid droplets
Episodic hypokalemia
Transient hypophosphatemia
Episodic flaccid weakness
Sarcoidosis, Pulmonary
Anti-Glomerular Basement Membrane Disease
Alport Syndrome
West Syndrome
Short QT Syndrome 1
Amelogenesis imperfecta nephrocalcinosis
Neonatal thrombocytopenia (disorder)
Brugada Syndrome 4
Generalized Nonconvulsive Seizure Disorder
Epilepsy, Atonic
Epilepsy, Tonic
Juvenile Myoclonic Epilepsy
Symptomatic Generalized Epilepsy
Generalized convulsive epilepsy
Epilepsy, Akinetic
Panayiotopoulos Syndrome
EPISODIC ATAXIA, TYPE 5
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6
Premature ventricular contractions
Carnitine palmitoyl transferase 2 deficiency
Carnitine-Acylcarnitine Translocase Deficiency
Cardiopulmonary Arrest
Elevated plasma acylcarnitine levels
Abnormality of skeletal muscles
Missed heartbeat
Coronary Thrombosis
Hemoglobin F Disease
Thalassemia Minor
Schistocytosis
Broad-based gait
Non-ST elevation (NSTEMI) myocardial infarction
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
Anisopoikilocytosis
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
Adenofibroma
Atrial myxoma
Sarcomatoid Mesothelioma
Mesothelioma, biphasic, malignant
CATARACT, MARNER TYPE
Peritoneal Surface Malignancy
Supravalvular aortic stenosis
Cervical Migraine Syndrome
Neck Pain
Endocrine Gland Neoplasms
Hemicrania migraine
Multiple Endocrine Neoplasia Type 2b
Milk-Alkali Syndrome
Chronic peritoneal effusion (disorder)
Migraine Variant
Injury wounds
Wounds and Injuries
Foot Ulcer
Lesion of Sciatic Nerve
Idiopathic urticaria
Sciatic Neuritis
Lingual Thyroid
Abdominal Migraine
C cell tumor
Status Migrainosus
Multinodular goiter
Congenital diverticulum of pharynx
Down Syndrome, Partial Trisomy 21
Trisomy 21, Meiotic Nondisjunction
Acute Confusional Migraine
Sick Headaches
Trisomy 21, Mitotic Nondisjunction
Neuralgia-Neuritis, Sciatic Nerve
Sciatic Nerve Palsy
Pain during injection
Chordoid Glioma of the Third Ventricle
Neoplastic C-Cell Hyperplasia
Familial medullary thyroid carcinoma
THYROID CARCINOMA, SPORADIC MEDULLARY
TROPICAL CALCIFIC PANCREATITIS
Transformed migraine
Ovarian Small Cell Carcinoma
Traumatic injury
Hypocalciuric hypercalcemia
Research-Related Injuries
Multiple endocrine neoplasia Type 2
Speech and language disorder
Primary osteoporosis
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
Uterine Prolapse
Endometrial Diseases
Phencyclidine Abuse
African Trypanosomiasis
Phencyclidine-Related Disorders
X-linked hydrocephalus syndrome
Familial ventricular tachycardia
Paroxysmal familial ventricular fibrillation
Specific language impairment
Idiopathic scoliosis
MASA SYNDROME (disorder)
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
Quebec platelet disorder
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
Stress-induced polymorphic ventricular tachycardia
Adult onset autosomal dominant leukodystrophy
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
Cardiac arrest in children
LONG QT SYNDROME 14
Catecholaminergic Polymorphic Ventricular Tachycardia Type 1
Reticuloendotheliosis, X-linked
LONG QT SYNDROME 15
Melanoma, Cloudman S91
Melanoma, Harding-Passey
Melanoma, Experimental
Onchocerciasis
Scarlet Fever
Vitamin B 12 Deficiency
Congenital heart block
Amaurosis Fugax
Prolonged bleeding time
Arterial thrombosis
Oculocutaneous albinism type 1
Insulin resistance - type A
Neoplasm of ampulla of Vater
Neonatal Systemic lupus erythematosus
Reactive thrombocytosis
Abnormal platelet morphology
Achalasia
Impaired platelet aggregation
Thrombocytosis, Autosomal Dominant
Isolated Congenital Heart Block
Increased megakaryocyte count
Nicotine withdrawal
TDP-43 Proteinopathies
Severe alcohol dependence
Papillon-Lefevre Disease
Rosacea
Streptococcal Infections
Tinea Capitis
Diabetic Foot
Fetid chronic bronchitis
Chronic neutropenia
lung cavity
Diabetic foot ulcer
Generalized periodontitis
Severe periodontitis
Acute recurrent pancreatitis
Retrobulbar Neuritis
Sore to touch
Montreal platelet syndrome
Neuropapillitis
Valgus deformities of feet
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
Hemorrhagic diarrhea
WOLFRAM SYNDROME 2
Temporomandibular Joint Dysfunction Syndrome
Romberg's sign positive
Ocular muscular dystrophy
Fibrinogen assay
Muscular Dystrophy, Emery-Dreifuss
Shoulder girdle weakness
Hypereosinophilia
Eosinophilic myositis (disorder)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
Bethlem myopathy
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
Limb-girdle muscle weakness
Contractures of the joints of the lower limbs
Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy
Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]
Severe [Duchenne] muscular dystrophy
Sarcoglycanopathies
Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber
Absent muscle fiber calpain-3
Autosomal recessive limb girdle muscular dystrophy type 2A
Angular cheilitis
Peeling of skin
Leukonychia
Knuckle pads
Glaucomatous retinal degeneration
PEELING SKIN SYNDROME
Serum Alanine Aminotransferase Measurement
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
Calcium measurement
Amebiasis
Amebic colitis
Listeriosis
Superinfection
Muckle-Wells Syndrome
Infection by Candida albicans
Acute glaucoma
Familial cold urticaria
Chronic multifocal osteomyelitis
Schnitzler Syndrome
Acute Chest Syndrome
Pseudomonas aeruginosa infection
PHOTOPAROXYSMAL RESPONSE 1
Mevalonic Aciduria
Nephropathic cystinosis
Autoinflammatory Syndrome
Eperythrozoonosis
Olivopontocerebellar Atrophies
Reoviridae Infections
Granular cell tumor
Myxoma of the Endocardium
Infantile neuronal ceroid lipofuscinosis
Alexander Disease
Symmetric Diabetic Proximal Motor Neuropathy
Asymmetric Diabetic Proximal Motor Neuropathy
Diabetic Mononeuropathy
Diabetic Amyotrophy
Diabetic Autonomic Neuropathy
Malignant Bone Neoplasm
Gastric erosions
Diabetic Asymmetric Polyneuropathy
Spinal cord stroke
Avascular Necrosis of Femur Head
Diabetic Neuralgia
West Nile viral infection
TNF receptor-associated periodic fever syndrome (TRAPS)
Infiltrating duct carcinoma
Neuroferritinopathy
Cerebral Cavernous Malformations 3
Myxoma of heart
Enteropathogenic Escherichia coli gastrointestinal tract infection
Malignant neoplasm of thorax
Germinoma
Crohn's disease of the ileum
Terminal Ileitis
Lupus-like syndrome
Recurrent sinopulmonary infections
Decreased T cell activation
Defective B cell activation
T-Cell Large Granular Lymphocyte Leukemia
Neoplasm of uncertain behavior of lymphoid, hematopoietic and related tissue, unspecified
Low grade dysplastic nodule
High grade dysplastic nodule
Butterfly rash
Autoimmune Lymphoproliferative Syndrome, Type IIA
Increase in B cell number
Tires quickly
Easy fatigability
Vacuolar myopathy
MYOPATHY, TUBULAR AGGREGATE, 1
MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES
Muscle fiber tubular inclusions
Fatiguable weakness of proximal limb muscles
Induced ventricular tachycardia
Ventricular tachycardia, polymorphic
Syncopal Episode
Calcium Metabolism Disorders
Digestive System Disorders
Lactose Intolerance
Hypermagnesemia
Abnormal renal function
Familial hyperparathyroidism
Lofgrens syndrome
Neonatal hypocalcemia
Familial idiopathic hypercalciuria
Neonatal hyperparathyroidism
idiopathic epilepsy
Idiopathic hypercalciuria
High blood phosphate levels
Elevated C-reactive protein
Elevated circulating parathyroid hormone level
Diarrheal disorder
Hyperparathyroidism-Jaw Tumor Syndrome
Hypocalcemia, Autosomal Dominant, with Bartter Syndrome
HYPERPARATHYROIDISM, NEONATAL SEVERE
Hypocalciuric Hypercalcemia, Acquired
Hypermagnesiuria
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
Abnormal enzyme/coenzyme activity
Elevated C-reactive protein level
Abnormality of the thyroid gland
Actinomycosis
Pneumonia, Bacterial
Claustrophobia
Involutional Depression
Dyskinesia, Drug-Induced
Embryopathies
Keratosis Blennorrhagica
Kernicterus
Pericarditis
Mast-Cell Sarcoma
Hallopeau-Siemens Disease
Eosinophilia-Myalgia Syndrome
Phenylketonuria, Maternal
Keratoma
Variegate Porphyria
Acute cholangitis
Acatalasia
Chronic purulent otitis media
Stage IV Prostate Carcinoma
Hyperpipecolic Acidemia
Adenomatous goiter
Acute ulcer
Brittle diabetes
Catalase measurement
Pulmonary Thromboembolisms
Mitral valve endocarditis
Dyskinesia, Medication-Induced
Cystathionine beta-Synthase Deficiency Disease
Hypocatalasemia
Alcohol Related Neurodevelopmental Disorder
Female genital tract infection
Ureteral Calculi
Bonnevie-Ullrich Syndrome
Arterial leg ulcer
Involutional paraphrenia
Psychosis, Involutional
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
Peroxisome Biogenesis Disorder, Complementation Group D
Trichothiodystrophy Syndromes
Catalase deficiency
Acatalasemia Japanese type
Acatalasemia Swiss type
Stage IV Prostate Cancer AJCC v7
Partial Fetal Alcohol Syndrome
Diabetes Mellitus, Ketosis-Prone
Reduced catalase activity
Cerebellar cortical atrophy
Bone Cysts
Electrocardiogram
Myoma
Growth hormone excess
Absence of subcutaneous fat
Psoriasiform eczema
Congenital secretory diarrhea, sodium type (disorder)
Secondary Open Angle Glaucoma
Glasser's disease
Hereditary gingival fibromatosis
Scleroderma, Limited
Uterine carcinoma
Abnormal pigmentation
Hypopharyngeal Carcinoma
Dyspareunia
Decreased adipose tissue around neck
Loss of subcutaneous adipose tissue in limbs
Prominent supraorbital ridges
Lipodystrophy with Congenital Cataracts and Neurodegeneration
Generalized hirsutism
Skeletal muscle hypertrophy
Lipodystrophy, Congenital Generalized, Type 3
Congenital Bilateral Cataracts
Lack of facial subcutaneous fat
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME
PULMONARY HYPERTENSION, PRIMARY, 3
Narrow foramen obturatorium
Hypertrophy of supraorbital ridge
Hypertrophy of supraorbital margins
Hyperplasia of supraorbital ridge
Hyperplasia of supraorbital margins
Asymmetric Septal Hypertrophy
Hyperirritability
Paresis of extraocular muscles
Subaortic stenosis
Proximal myopathy
Idiopathic hypertrophic subaortic stenosis
RIPPLING MUSCLE DISEASE 2 (disorder)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
RIPPLING MUSCLE DISEASE 1
Rippling muscle disease
Muscle hyperirritability
Muscle mounding
Exercise-induced muscle cramps
Exercise-induced muscle stiffness
LONG QT SYNDROME 9 (disorder)
Chromosome 3, monosomy 3p25
MYOPATHY, DISTAL, TATEYAMA TYPE
Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Percussion-induced rapid rolling muscle contractions
Heterotopic Ossification
Osteoid osteoma
Tooth, Supernumerary
Spina Bifida Occulta
Bone Cysts, Aneurysmal
Cervical rib
Pfeiffer Syndrome
Stomatognathic System Abnormalities
Disorder of skeletal system
Osteoma cutis
Defect of skull ossification
Odontome
Lack of bone formation
Chronic metabolic acidosis
Dedifferentiated chondrosarcoma
Primary chondrosarcoma of bone
Narrow palate
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly
Hypoplastic inferior ilia
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY
Large foramen magnum
Delayed eruption of primary teeth
Delayed eruption of permanent teeth
Flared metaphysis
Down-sloping shoulders
Parietal bossing
Absent paranasal sinuses
Wide pubic symphysis
Aplastic clavicles
Short philtrum
Short 5th metacarpal
Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly
Abnormal facility in opposing the shoulders
Moderately short stature
Long second metacarpal
Acampomelic Campomelic Dysplasia
Split-Hand/Foot Malformation
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
Aplasia of paranasal sinuses
CLEIDOCRANIAL DYSPLASIA, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS
Short middle phalanx of the 2nd finger
Short face
Multiple small vertebral fractures
Osteoporosis of vertebrae
Abnormality of the sacrum
Missing sinuses
Hyperplasia of foramen magnum
Decreased calcification of skull
Increased diameter of foramen magnum
Increased circumference of foramen magnum
Dimple chin
Congenital hypoplasia
Platelet Storage Pool Deficiency
Patau syndrome
Leukemic Infiltration
Childhood B Acute Lymphoblastic Leukemia
de novo myelodysplastic syndromes
secondary myelodysplastic syndromes
Inherited platelet disorder
Friend leukemia
Acute myeloid leukemia with multilineage dysplasia
Therapy-related acute myeloid leukemia and myelodysplastic syndrome
Secondary polycythemia
Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome
Acute myeloid leukemia, inv(16)(p13q22)
Platelet Disorder, Familial, with Associated Myeloid Malignancy
DISORGANIZATION, MOUSE, HOMOLOG OF
THROMBOCYTOPENIA 2 (disorder)
Hyperdiploid B Acute Lymphoblastic Leukemia
Bone Marrow failure syndromes
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Core binding factor acute myeloid leukemia
Childhood Pre-B Acute Lymphoblastic Leukemia
Myelofibrosis due to another disorder
Acute myeloid leukemia, t(8;21) (q22;q22)
Acute myeloblastic leukemia with t(8;21)
Childhood Acute Megakaryoblastic Leukemia
Gastritis, Hypertrophic
Lesion of stomach
Colorectal Tubular Adenoma
Acute myelomonocytic leukemia with abnormal eosinophils
AML M4 Eo with inv(16) or t(16;16)
Sarcoma of mesentery
Other specified disorders of adrenal gland
Hypocortisolism secondary to another disorder
Abnormality of cortisol-binding globulin
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-Binding Globulin, Elevated
Widespread Chronic Pain
Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis
Myelomonocytic leukemia
Preleukemia
Child Development Deviations
Child Development Disorders, Specific
Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site
Jacobsen Distal 11q Deletion Syndrome
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Experimental Autoimmune Encephalomyelitis
Pemphigoid, Benign Mucous Membrane
Pyloric Stenosis
Epidermolysis Bullosa Acquisita
Conjunctival scar
Collagen-vascular disease
Compression fracture of vertebral column
Collapse of vertebra
Thin rib
Preterm premature rupture of membranes (disorder)
Nonspecific interstitial pneumonia
Shallow orbits
OSTEOGENESIS IMPERFECTA, TYPE X
T-cell lymphoma/leukemia
Clubbing of nail
Primary infection NOS
Meningomyelocele
Personality Disorders
Sinus Thrombosis, Intracranial
Embolism and Thrombosis
Leishmaniasis, New World
Arterial malformation
Biconcave vertebral bodies
Homocysteine measurement
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Homocysteinemia
Homocystinuria, Pyridoxine-Responsive
Generalized osteoporosis with pathologic fractures
HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE
Cerebellar malformation
Biliary Tract Neoplasm
Unconscious State
Manic mood
Feeding Disorders
Cholera Infantum
High Grade Astrocytic Tumor
Round cell tumor
Pancreatic disorders (not diabetes)
Zollinger-Ellison syndrome
Multiple Chemical Sensitivity
Gastric Gastrointestinal Stromal Tumor
Angiomyoma
Adrenal calcification
Compression injury of nerve
Capillary-venous malformation
Hemangioma, Cavernous, Central Nervous System
Cavernous Hemangioma, Extracerebral
Cavernous Hemangioma, Intracerebral
Cerebral Cavernous Hemangioma
Cutaneous vascular malformation
Cerebral Cavernous Malformations 1
Cavernous Malformations of CNS and Retina
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations
Hepatic vascular malformations
Retinal vascular malformation
CEREBRAL CAVERNOUS MALFORMATIONS 2
Cavernous Angioma, Central Nervous System
Angioma
Familial cerebral cavernous malformation
Focal T2 hypointense brainstem lesion
Focal T2 hyperintense brainstem lesion
Malignant germ cell neoplasm
Wound, non-healed
Esophageal Diseases
Disease due to Parvoviridae
Tonsillar Carcinoma
HER2-positive carcinoma of breast
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
Abnormal localization of kidney
Pancreatic Intraepithelial Neoplasia-1A
Senile angioma
Viral Carcinogenesis
Serous Endometrial Intraepithelial Carcinoma
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
Capillary Malformation Without Arteriovenous Malformation
BASAL CELL CARCINOMA, SOMATIC
Hepatobiliary disease
Cataract, total congenital with posterior sutural opacities in Heterozygotes
Alveolar pyorrhea
Urban cutaneous leishmaniasis
Histiocytosis haematophagic
Eosinophilic Pneumonia
Hermanski-Pudlak Syndrome
Leprosy, Lepromatous
Condyloma
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Lymphoid depletion
Inflammatory cardiomyopathy
IMMUNODEFICIENCY 19
Lymphomatoid Granulomatosis
T-lymphocyte immunodeficiency
Gastrointestinal Stromal Sarcoma
IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
IMMUNODEFICIENCY 18, SCID VARIANT
Decreased number of CD3+ T cells
Decreased number of CD8+ T cells
IMMUNODEFICIENCY 17
Dislocations
Iridocyclitis
ESR raised
Acquired aplastic anemia
Protracted diarrhea
Immunodeficiency due to Defect in CD3-Zeta
Severe Aplastic Anemia
Juvenile pauciarticular chronic arthritis
Susceptibility to herpesvirus
Infective arthritis of shoulder region
Unspecified infective arthritis involving upper arm
Unspecified infective arthritis involving forearm
Unspecified infective arthritis involving hand
Unspecified infective arthritis, pelvic region and thigh
Unspecified infective arthritis involving lower leg
Unspecified infective arthritis, ankle and foot
AIDS-Related Opportunistic Infections
Infection by human herpesvirus 7
Abnormality of T cells
OKT4 EPITOPE DEFICIENCY
Thymic Squamous Cell Carcinoma
Discitis
hemangiopericytoma
Hibernoma
Liposarcoma, Pleomorphic
Round cell liposarcoma
Myxoid chondrosarcoma
Malignant Lipomatous Neoplasm
Intravenous leiomyomatosis
Lipoblastoma
Periventricular Heterotopia, X-Linked
Syndactyly, type 2
Lipomatosis, Multiple
Cryptosporidiosis
Respiratory Tract Infections
Multiple Sclerosis, Chronic Progressive
Chronic Airflow Obstruction
CD8 Deficiency, Familial
Absence of CD8+ T cells
Primary HIV infection
Appendicitis
Burning Mouth Syndrome
Immediate hypersensitivity
Periapical Periodontitis
Prurigo
Upper Respiratory Infections
Gram-Negative Bacterial Infections
Syphilis, secondary
Community-Acquired Infections
Obstruction of bronchus
Traveler's diarrhea
Pouchitis
IgG myeloma
Acute asthma
Corneal infection
Refractory cytopenia with multilineage dysplasia
Nasal allergies
Bacterial diarrhoea
Dry cough
Distal colitis
Campylobacter jejuni infection
Chlamydia pneumoniae Infections
Advanced cirrhosis
Alcoholic liver damage
Refractory cytopenia with multilineage dysplasia (RCMD)
Acute lyme disease
Childhood nephrotic syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Anus, Imperforate
Viral meningitis
Dermatopathic lymphadenitis
Seronegative rheumatoid arthritis
Cytokine release syndrome
Refractory Follicular Lymphoma
Trisomy 4
Lattice corneal dystrophy Type I
Immunoglobulin Deficiency, Late-Onset
Antibody Deficiency due to Defect in CD19
Primary immunoglobulin A nephropathy (disorder)
Immunoglobulin G4 related sclerosing disease
Hay fever
Urticaria Pigmentosa
Chronic interstitial nephritis
Urine looks dark
Chromosome 12, trisomy 12q
Non-Hodgkin's lymphoma refractory
Diffuse large B-cell lymphoma recurrent
Multi-centric Castleman's Disease
Kallmann Syndrome 1
Refractory Childhood Acute Lymphoblastic Leukemia
B Acute Lymphoblastic Leukemia, Philadelphia Chromosome Negative
VITAMIN B12 MEASUREMENT
Lupus Erythematosus, Subacute Cutaneous
Active tuberculosis
Hyperimmunoglobulin M syndrome
Tuberculosis, extrapulmonary
Latent Tuberculosis
LYMPHOPROLIFERATIVE SYNDROME 2
IMMUNODEFICIENCY 13
Berylliosis
Common Cold
Fuchs' heterochromic cyclitis
Lichenification
Lown-Ganong-Levine Syndrome
Paracoccidioidomycosis
Rheumatoid Vasculitis
Cutaneous plaque
Inflammatory neuropathy
Pulmonary paracoccidioidomycosis
Poikiloderma
Apraxia, Developmental Verbal
Beryllium Disease
Functional proteinuria
Chronic arthritis
Disorder of lymph node
Disease caused by Shigella dysenteriae
Neuroborreliosis
Recurrent Rhabdomyosarcoma
Stage IV Renal Cell Cancer
Stage IV Renal Cell Cancer AJCC v7
Carcinoma, Ehrlich Tumor
Marek Disease
Bacterial Vaginosis
Mixed Cellularity Hodgkin Lymphoma
Hodgkin lymphoma, lymphocyte depletion
Skin Diseases, Viral
Pityriasis Lichenoides et Varioliformis Acuta
Sprue
Testicular embryonal carcinoma
Polyembryoma
Ovarian Embryonal Carcinoma
Subcutaneous panniculitis-like T-cell lymphoma
Refractory Hodgkin Lymphoma
Leukemic infiltration of skin
Aggressive Systemic Mastocytosis
Lymphocyte Rich Classical Hodgkin Lymphoma
T-cell/histiocyte rich large B-cell lymphoma
Anaplastic diffuse large B-cell lymphoma
Amaurosis congenita of Leber, type 1
Refractory Childhood Hodgkin Lymphoma
Mycobacterium avium-intracellulare Infection
Mycobacterium avium infection
Chronic ulcer
Extrinsic allergic alveolitis
Mucopolysaccharidosis II
Mucopolysaccharidosis VII
Myelolipoma
Neoplasms, Fibrous Tissue
Myofibroblastoma
Adult Acute Promyelocytic Leukemia with PML-RARA
Fibrous papule of nose
Elastofibroma
Fibrous papule of face
Infection by human herpesvirus 6
Spindle cell liposarcoma
Low-grade fibromyxoid sarcoma
Congenital amegakaryocytic thrombocytopenia
Dermal Fibroma
Lipomatous hemangiopericytoma
Soft Tissue Tumor of Uncertain Differentiation
Mixed Cell Type Gastrointestinal Stromal Tumor
Uterine Angiosarcoma
Direct Contact Transmission Infection
THROMBOCYTOPENIA 1 (disorder)
Gaucher Disease, Type 1
Idiopathic Interstitial Pneumonias
Acute-On-Chronic Liver Failure
Nephrogenic Systemic Fibrosis
Hunger
Vitamin E Deficiency
Gray Platelet Syndrome
Giant platelet (morphologic abnormality)
Exercise-induced angina
Breast Liposarcoma
Platelet Glycoprotein IV Deficiency
MALARIA, SUSCEPTIBILITY TO (finding)
CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7
Acute malaria
response to fenofibrate
Arteriosclerotic cardiovascular disease, NOS
Abnormality of the endocrine system
Fatty Liver Disease
Follicular cyst
Leydig Cell Tumor
Leydig cell tumor, benign
Vitamin E Assay
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
Hand, Foot and Mouth Disease
Myoclonus, Action
Action Myoclonus-Renal Failure Syndrome
Morning myoclonic jerks
Enterovirus 71 infection
EEG with polyspike wave complexes
Subungual exostoses
Coloboma of optic disc
Synovial sarcoma, biphasic
Classical Lissencephaly
Chromosome 3, trisomy 3q
Monophasic Synovial Sarcoma
Congenital sensorineural hearing loss
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
Borderline mental retardation (I.Q. 70-85)
SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
Apocrine metaplasia
Dysplasia of larynx
COENZYME Q10 DEFICIENCY, PRIMARY, 6
Diverticulitis
Poxviridae Infections
Schizotypal Personality Disorder
Erythema Infectiosum
Acute myocarditis
Perceptual disturbance
Osteopenia/osteoporosis
Sclerosis of the skin
Schizoaffective disorder, bipolar type
IgE deficiency
Transfusion-Related Acute Lung Injury
Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 5
Impaired Ig class switch recombination
Ectodermal dysplasia, hypohidrotic, with immune deficiency
Light Fixation Seizure Syndrome
CD40 Ligand Deficiency
Prodromal Symptoms
Impaired memory B-cell generation
Enteritis
Tuberculoid leprosy
Mixed Connective Tissue Disease
Congenital Rubella Syndrome
Toxoplasmosis, Cerebral
Gingivostomatitis
Immunodeficiency congenital
Thrombocytopenic purpura
Abdominal sepsis
HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC
Bone marrow infiltration
Hepatic Fibrosis, Congenital
Soft Tissue Infections
Papilloma, Intraductal
Combined Hepatocellular Carcinoma and Cholangiocarcinoma
Hydrosalpinx (disease)
Cervix carcinoma stage III
Cervical carcinoma stage IB
Osteosarcoma recurrent
Bladder cancer recurrent
Gliomatosis cerebri
HODGKIN'S AND NON-HODGKIN'S LYMPHOMA
Pneumonia due to Klebsiella pneumoniae
Pneumonia due to Gram negative bacteria
Monoblastic leukemia
Adenocarcinoma of ampulla of Vater
Omodysplasia type 1
Overgrowth Syndrome
Neonatal meningitis
Compensated hemolytic anemia
Gluten sensitivity
Enthesitis
Partial Trisomy
Candidemia
External exotoses
Hemoglobinuria, Paroxysmal
Ventricular Fibrillation
Narcolepsy-Cataplexy Syndrome
CD59 Deficiency
Acute vascular graft rejection
Primary hypercholesterolemia
Autoimmune urticaria
Sex hormone binding globulin measurement
Persistent Vegetative State
Waardenburg Anophthalmia Syndrome
Myxoinflammatory fibroblastic sarcoma
Lichen disease
Food-protein induced enterocolitis syndrome
Thymoma, type B3
Thymoma, type C
Thymic Carcinoid Tumor
Bacteremia due to Staphylococcus aureus
Haemophilus Infections
Heavy Chain Disease
Infection of bone
Chronic sinus disease
Breast Diffuse Large B-Cell Lymphoma
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
IMMUNODEFICIENCY, COMMON VARIABLE, 6
Stenosis of nasolacrimal duct
Epidermolysis bullosa, pretibial
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Reduced beta/alpha synthesis ratio
Congenital dyserythropoietic anemia, type II
Unilateral Multicystic Dysplastic Kidney
Osteoarthritis, Spine
Hyalinosis, Systemic
Congenital dyserythropoietic anemia, type III
Reis-Bucklers' corneal dystrophy
Thiel-Behnke corneal dystrophy
Drug-induced paranoid state
TRICHOMONAS VAGINALIS (finding)
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
Nonerosive Arthritis
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
Vascular Endothelial Growth Factor Measurement
Small labia majora
Congenital absence of jaw
Congenital absence of mandible
Congenital absence of external ear
Absent auditory canals
Radiohumeral dislocation
Ulnohumeral dislocation
Absent ear
Slender long bone
Hypoplasia of the capital femoral epiphysis
Absent external auditory canals
Clitoral hypoplasia
Hypoplastic labia minora
Irregular femoral epiphysis
Birth length less than 3rd percentile
Atretic auditory canal
Atresia of the external auditory canal
Patellar aplasia
MUNGAN SYNDROME
Dislocation of elbow joint
MEIER-GORLIN SYNDROME 5
Microtia, third degree
Absent mandible
Abnormal shape/structure of ear
Liver cyst
Asthenozoospermia
Pemphigus and fogo selvagem
Adams Oliver syndrome
Microvillus inclusion disease
anxiety acute
Clostridium; difficile (disorder)
Neutropenia, Severe Congenital, X-Linked
TAKENOUCHI-KOSAKI SYNDROME
Neoplasm Seeding
Helicobacter Infections
Chronic cholecystitis
Spongiotic dermatitis
Peg-shaped teeth
Distichiasis
Lower eyelid ectropion
Paget's disease of vulva
Signet-ring cell adenocarcinoma gastric
Cleft palate and bilateral cleft lip
Blepharo-cheilo-dontic syndrome
OROFACIAL CLEFT 1
Pancreatic Intraductal Papillary Mucinous Neoplasm, Gastric-Type
GASTRIC CANCER, FAMILIAL DIFFUSE, AND CLEFT LIP WITH OR WITHOUT CLEFT PALATE
Pointed tooth
Everted lower eyelids
Compulsive Personality Disorder
Ectrodactyly
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Sparse eyelashes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Sparse and thin eyebrow
No-Reflow Phenomenon
Malignant Mixed Mesodermal (Mullerian) Tumor
Blepharochalasis
Hearing Loss, Mixed Conductive-Sensorineural
Peripheral arthritis
Malignant mesenchymal tumor
Retinoma
Dentin dysplasia, type 1
Branchio-skeleto-genital syndrome
Retinoblastoma, spontaneously regressed
Large earlobe
Periorbital wrinkles
Thoracolumbar kyphoscoliosis
Downturned corners of mouth
Abnormality of dentin
Attached earlobe
Abnormality of the sella turcica
Advanced pneumatization of the mastoid process
Unilateral cleft palate
Abnormality of the vertebral spinous processes
Abnormality of the hypophysial fossa
Abnormality of the shape of the midface
Rootless teeth
Hyperplastic lymph node
drug response
Coronary Restenosis
Tubular breast carcinoma
Adiponectin Measurement
Mental Retardation, Autosomal Dominant 3
Neoplasms, Glandular and Epithelial
stage, gastric cancer
Intestinal metaplasia
Non-small cell lung cancer stage II
Tumor of the Pineal Region
Bronchial carcinoid
Dysplastic Nevus Syndrome
Parosteal Osteosarcoma
Brain Stem Neoplasms
Undifferentiated High Grade Pleomorphic Sarcoma of Bone
Brain Stem Neoplasms, Primary
Mesencephalic Neoplasms
Pontine Tumors
Compensatory Hyperinsulinemia
Intracortical osteosarcoma
Periosteal Osteosarcoma
Depressed - symptom
Enchondroma
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
Oestrogen receptor positive breast cancer
Advanced breast cancer
Abnormality of the lymphatic system
Poorly differentiated sarcoma
Grade III Chondrosarcoma
Fusion-Positive Rhabdomyosarcoma
LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
Lissencephaly with cerebellar hypoplasia
Ectopic Tissue
Single kidney
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE
Brooke-Spiegler syndrome
Gestational choriocarcinoma
NUT midline carcinoma
Transient Myeloproliferative Disorder of Down Syndrome
Cholesteatoma
Fuchs Endothelial Dystrophy
Granuloma
Hypopharyngeal Neoplasms
Microinvasive tumor
Non-Functioning Pituitary Gland Neoplasm
Disease due to Papilloma virus
Infiltrating Bladder Urothelial Carcinoma
Fasting hyperinsulinemia
Gastric Carcinoma with Lymphoid Stroma
Pituitary growth hormone cell adenoma
Tertiary hyperparathyroidism
Carcinoid tumor of lung
Cystadenofibroma
Synovial sarcoma non-metastatic
Small Intestinal Neuroendocrine Neoplasm
Cancer Cell Growth
Multiple Endocrine Neoplasia, Type IV
PITUITARY ADENOMA, FAMILIAL ISOLATED (disorder)
Multiple endocrine neoplasia type 4
Diastasis recti
Port-Wine Stain
Transient neonatal diabetes mellitus
Complex Endometrial Hyperplasia
Enlarged kidney
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Overgrowth
BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION
Adrenocortical cytomegaly
Overgrowth of external genitalia
Generalized overgrowth
Pancreatic hyperplasia
SPLIT-HAND/FOOT MALFORMATION 4
Adrenal Hypoplasia, Cytomegalic Type
Renal cortical cysts
Fetal overgrowth
WILMS TUMOR 2
Posterior helix pit
Recurrent Atypical Teratoid/Rhabdoid Tumor
Adenosarcoma
Branchioma
Brenner Tumor
Polyp in nasopharynx
Chromosome Deletion
Glycogen Storage Disease Type VI
Vulvar Lichen Sclerosus
Leukomalacia, Periventricular
Extra-Adrenal Paraganglioma
Penile Neoplasms
Supratentorial Neoplasms
Chromosomal translocation
Hypopharyngeal Cancer
Malignant neoplasm of anus
Glandular Neoplasms
Cystadenocarcinoma, Mucinous
Mucoepidermoid Tumor
Childhood Rhabdomyosarcoma
Carcinoma of unknown primary
Squamous cell carcinoma of vagina
Persistent Hyperplastic Primary Vitreous
Chronic cervicitis
Neuroblastoma recurrent
Small cell carcinoma of the cervix
Bladder Squamous Cell Carcinoma
Anaplastic Ependymoma
Morphologically abnormal structure (morphologic abnormality)
Papillary squamous cell carcinoma
Squamous cell carcinoma, metastatic
tubular adenomas and adenocarcinomas
Proliferating Brenner Tumor
Neoplasm of cornea
Ulcerative jejunitis
Angiosarcoma of liver
Eccrine epithelioma
Penile intraepithelial neoplasia
Cervix adenomatous polyp
Vaginal intraepithelial neoplasia grade 1
Vulval intraepithelial neoplasia grade 3
Pleomorphic adenoma of parotid gland
Human T-cell lymphotrophic virus, type I [HTLV-I]
Atypical meningioma
Chromosome 9, trisomy
Chemical Carcinogenesis
Biliary stricture
Basal Cell Cancer
Peripheral Nerve Sheath Neoplasm
Chromosome 10, monosomy 10q
Pineal germinoma
Ewing's tumour localised
Gastric hyperplastic polyp
Malignant tenosynovial giant cell tumor
Melanocytic neoplasm
Adult B Lymphoblastic Lymphoma
Astrocytoma of brain stem
Childhood B Lymphoblastic Lymphoma
Gastric Cardia Carcinoma
Large Cell Lung Neuroendocrine Carcinoma
Adenocarcinoma of the nasal cavity
Vulvar Intraepithelial Neoplasia, Differentiated Type
Pleural Mesothelioma
Chronic esophagitis
Glioblastoma, IDH-Mutant
Colorectal Mucinous Adenocarcinoma
Melanoma astrocytoma syndrome
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, 1
MELANOMA-PANCREATIC CANCER SYNDROME
OROLARYNGEAL CANCER, MULTIPLE
Ulnar-mammary syndrome
Retinomas (translucent, grayish retinal mass protruding into the vitreous)
Biliary papillomatosis
Inverted Squamous Cell Papilloma
Wolf-Hirschhorn Syndrome
Autosomal aneuploidy
Pancreatic squamous cell carcinoma
Bone Fibrosarcoma
Human Papillomavirus Positive Oropharyngeal Squamous Cell Carcinoma
Partial Monosomy
Pancreatic Intraepithelial Neoplasia-3
Condylomatous carcinoma
Biliary System Disorder
Proliferative verrucous oral leukoplakia
Central Nervous System Embryonal Tumor, Not Otherwise Specified
Overweight or obesity
Epstein-Barr virus associated gastric carcinoma
Oral infection
Hemorrhagic Fevers, Viral
Erythema Multiforme
Metastatic Carcinoma to the Uterine Cervix
Hepatoblastoma Caused By Somatic Mutation
Vaginal yeast
Flaccid paralysis
Onycholysis
Hypotrichosis Simplex of Scalp
Peeling skin syndrome, acral type
Hypotrichosis of the scalp
Bile Reflux
Gastrointestinal carcinoma
Cystitis glandularis
Midgut Carcinoid Tumor
Gastrointestinal inflammation
Intestinal Neuroendocrine Carcinoma
Splenic Neoplasms
Stage 0 Carcinoma of Colon
Lymphangitis carcinomatosa
Non-small cell lung cancer recurrent
colon cancer liver metastasis
Follicular carcinoma, widely invasive
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
Apparent mineralocorticoid excess
Arbovirus Infections
Adult Fibrosarcoma
Histiocytic leukemia
Paraneoplastic Syndromes
Paraneoplastic Opsoclonus-Myoclonus Ataxia
Specific granule deficiency
Absent neutrophil specific granules
Hyposegmentation of neutrophil nuclei
SPECIFIC GRANULE DEFICIENCY 2
Atrophy of pancreas
Simple Pulmonary Eosinophilia
Disseminated eosinophilic collagen disease
Acute respiratory disease
Invasive Pulmonary Aspergillosis
Hypereosinophilic syndrome
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
Benign symmetrical lipomatosis
Abnormality of exocrine pancreas physiology
Uterine dysfunction
Complete Trisomy 21 Syndrome
Partial agenesis of corpus callosum
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Small hand
Partial or complete agenesis of corpus callosum
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
Duodenal atresia
Bilateral renal hypoplasia
Jejunal Atresia with Microcephaly and Ocular Anomalies
Dysosmia
Cacosmia
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 10
Hepatic granulomatosis
Status Dysraphicus
Rachischisis
Gross motor development delay
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
Nemaline Myopathy 7
pustule
Onychogryposis
Early onset periodontitis
Pimples
Periodontosis
Oncogenic osteomalacia
Deficiency of cathepsin C
Aggressive periodontitis, generalized
Recurrent bacterial skin infections
HAIM-MUNK SYNDROME
Congenital palmoplantar keratosis
Choroid plexus calcification
Haim-Monk Syndrome
Dihydropyrimidinuria
Chronic furunculosis
Tapering pointed ends of distal finger phalanges
Eye Infections
Intestinal Obstruction
Parainfluenza
Pseudomonas Infections
Rectal Prolapse
Salpingitis
Typhoid Fever
Lower respiratory tract infection
Congenital absence of lung
Pancreas divisum
Secretory diarrhea
Congenital chloride diarrhea
Lactose Intolerance, Adult Type
Congenital unilateral absence
Mucus cast
Idiopathic bronchiectasis
Young Syndrome
Infectious disorder of bronchus
Idiopathic chronic pancreatitis
Influenza-like symptoms
Ataxic cerebral palsy
Distal intestinal obstruction syndrome
pancreatitis idiopathic
Distal ileal obstruction syndrome
Hypotonic dehydration
Ileus
Chronic emphysema
Respiratory morbidity
Fibrocystic Disease of Pancreas
Congenital absence of kidneys syndrome
Elevated sweat chloride
LACTASE PERSISTENCE
Duodenal stenosis/atresia
Recurrent bronchopulmonary infections
Autoimmune pancreatitis
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Generalized Myotonia of Thomsen
Recurrent lower respiratory tract infection
Meconium ileus on ultrasonography
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS
Intestinal obstruction co-occurrent and due to decreased peristalsis
Autosomal Dominant Hereditary Pancreatitis
Pregnancy, Tubal
Uterine Diseases
Monoplegia
Hemiplegia, Flaccid
Hemiplegia, Spastic
Hemiplegia, Infantile
Hemiplegia, Transient
Hemiplegia, Post-Ictal
Familial Retinoblastoma
hormone related neoplasm/cancer
Thyroid cancer, follicular
Fetal Resorption
Canarypox (disorder)
Crohn's disease of large bowel
Aspiration Pneumonia
Poliomyelitis
Familial infantile myasthenia
Ophthalmoparesis
Congenital Myasthenic Syndromes, Presynaptic
Vaccine associated paralytic poliomyelitis
Progressive ptosis
Decreased activity of the pyruvate dehydrogenase (PDH) complex
Generalized hypotonia due to defect at the neuromuscular junction
Decreased miniature endplate potentials
Type 2 muscle fiber atrophy
Apneic episodes precipitated by illness, fatigue, stress
EMG: decrement at repetitive stimulation
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Abnormality of the immune system
Sudden episodic apnea
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
X-linked retinitis pigmentosa
RETINITIS PIGMENTOSA 3
PILAROWSKI-BJORNSSON SYNDROME
Falls
Lennox-Gastaut syndrome
Myoclonic Astatic Epilepsy
Reflex Epilepsy, Photosensitive
Myoclonic Encephalopathy
Atypical absence seizure
Atypical Inclusion-Body Disease
Familial Progressive Myoclonic Epilepsy
Biotin-Responsive Encephalopathy
May-White Syndrome
Generalized tonic seizures
Hypotonic seizures
Abnormality of brainstem morphology
Familial CHARGE Syndrome
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EEG with 3-4-Hz spike waves
Abnormal brain FDG positron emission tomography
EEG with abnormally slow frequencies
EEG with focal sharp slow waves
EEG with spike-wave complexes (>3.5 Hz)
Sudden loss of muscle tone
Congenital torticollis
Fibromatosis colli
Arnold Chiari Malformation
Anteriorly placed anus
Abnormality of the clavicle
SIFRIM-HITZ-WEISS SYNDROME
Paranoid ideation
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
Polyploidy
Colitis, Collagenous
Pheochromocytoma, malignant
Colitis, Lymphocytic
Pheochromocytoma, Extra-Adrenal
Adenocarcinoma of cecum
Severe diarrhea
COPPER TOXICOSIS, IDIOPATHIC
Bilateral pheochromocytoma and islet cell adenoma of the pancreas
Bisphosphonate-associated osteonecrosis
Fungal keratitis
Osteomyelitis due to Staphylococcus aureus
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
Clinically isolated syndrome
Persistent asthma
Late onset atopic dermatitis
Filariasis
Hookworm Infections
Mycetoma
Mucolipidoses
Type I Mucolipidosis
Neuraminidase 1 deficiency
Niemann-Pick Disease, Type B
Gaucher Disease, Type 2 (disorder)
Candida sepsis
Mycetoma due to Madurella mycetomatis
CHITOTRIOSIDASE DEFICIENCY
Infection in children
Restless Legs Syndrome
Cytochrome-c Oxidase Deficiency
Multi-core congenital myopathy
Proximal Myopathy with Focal Depletion of Mitochondria
Muscular Dystrophy, Congenital, Megaconial Type
Myotubular (centronuclear) myopathy
Choroidal and/or chorioretinal disorder
Choroidal sclerosis
Chorioretinal degeneration
Choroidal dystrophy
Oculomotor Nerve Paralysis
Paralytic strabismus
Manifest vertical squint
Duane Retraction Syndrome, Type 2
Duane Retraction Syndrome, Type 3
Type 1 Duane Retraction Syndrome
Low Grade Sarcoma
Okihiro Syndrome
Globe retraction and deviation on adduction
Acute flaccid paralysis
Abnormal vertebral segmentation and fusion
Limited eye motility from Duane anomaly
Nonproliferative diabetic retinopathy
Hepatosplenic T-cell lymphoma
Acantholysis
Neurogenic Urinary Bladder
Neurogenic Urinary Bladder, Atonic
Neurogenic Urinary Bladder, Uninhibited
Urinary Bladder Neurogenesis
Neurogenic Urinary Bladder, Spastic
Chediak-Higashi Syndrome
Onychomycosis
Piebaldism
Cranial nerve palsies
Pigmentary iris degeneration
White hair
aspirin sensitivity
Macular hypoplasia
Generalized hypopigmentation
Giant melanosomes in melanocytes
CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
Abnormality of multiple cell lineages in the bone marrow
Recurrent systemic pyogenic infections
Attenuated Chédiak-Higashi syndrome
Urinary Bladder Diseases
Urethral obstruction sequence
Aplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the lungs
Catatonia
Catatonia, Organic
Catatonia, Malignant
Schizophreniform Catatonia
Akinesia
Aplasia of muscle
Hydrops Fetalis, Non-Immune
Congenital Myasthenic Syndromes, Postsynaptic
Myasthenic Syndromes, Congenital, Slow Channel
Pena-Shokeir syndrome type I
Vertebral body fusion
Myasthenic Syndrome, Congenital, Fast-Channel
Fused vertebrae
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Prolonged miniature endplate currents
Multiple pterygia
Myasthenic syndrome, congenital, postsynaptic slow-channel
Early severe fetal akinesia sequence
Abnormal cervical curvature
Hypoplastic heart
Spinal fusion
Intermittent episodes of respiratory insufficiency due to muscle weakness
Decreased size of nerve terminals
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
Epilepsy, Frontal Lobe
Epilepsy, Nocturnal Frontal Lobe, Type 4
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Serum albumin measurement
Frontal Epilepsy, Benign, Childhood
Epilepsy, Supplementary Motor
Epilepsy, Cingulate
Epilepsy, Opercular
Nocturnal epilepsy
Long Sleeper Syndrome
Short Sleeper Syndrome
Sleep-Related Neurogenic Tachypnea
Subwakefullness Syndrome
Epilepsy, Anterior Fronto-Polar
Epilepsy, Orbito-Frontal
Epilepsy, Nocturnal Frontal Lobe, Type 1
EPILEPSY, BENIGN NEONATAL, 2
Benign Familial Convulsion
Sleep Wake Disorders
Gaming disorder
LUNG CANCER SUSCEPTIBILITY 2 (disorder)
SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 (disorder)
Auditory Perceptual Disorders
SCHIZOPHRENIA 10
Auditory Inattention
Spina Bifida, Open
Chromosome 15q13.3 Microdeletion Syndrome
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
Hypothermia, Accidental
Psychological addiction
Epilepsy, Nocturnal Frontal Lobe, Type 3
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MYASTHENIA, FAMILIAL INFANTILE, 1
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
Diaphragmatic Eventration
Exostosis of external ear canal
Vertical Talus
Multiple pterygium syndrome
Congenital anomaly of neck
Long clavicle
Defect of vertebral segmentation
Hypoplasia of nipple
Deformity of neck
Axillary pterygia
Rib fusion
Absence of labia majora
Neck pterygia
Anterior clefting of vertebral bodies
Dysplastic patella
Pterygium, Antecubital
Popliteal pterygium
Intercrural pterygium
Fused cervical vertebrae
Symphalangism affecting the phalanges of the hand
Camptodactyly of toe
Bilateral camptodactyly
Aplasia/Hypoplasia of the skin
Malformation of the neck
Hypoplasia of lower limb
Hypoplasia involving bones of the upper limbs
Absent external genitalia
Aplasia of the sweat glands
COCOON SYNDROME
Acute schizophrenia
Alcohol-Induced Disorders, Nervous System
Balo's Concentric Sclerosis
Filarial Elephantiases
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST
Creatine kinase measurement
Hydroa Vacciniforme
Irregular periods
Hypoplasia of teeth
Decreased lacrimation
Abnormal auditory evoked potential
Cockayne Syndrome, Type III
Loss of facial adipose tissue
Square pelvis bone
Patchy demyelination of subcortical white matter
Severe postnatal growth retardation
Slender nose
Ivory epiphyses of the phalanges of the hand
Thymic hormone decreased
Increased cellular sensitivity to UV light
Progeroid facial appearance
CRANIOSYNOSTOSIS, TYPE 2
Hypoplastic pelvis
UV-SENSITIVE SYNDROME 2
Peripheral dysmyelination
Benign neoplasm of prostate
Decreased serum ceruloplasmin
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
Abnormality of the intestine
Parathormone-independent increased renal tubular calcium reabsorption
Myotonia Congenita
Deaf-Blind Disorders
Pain in limb
Myotonia Levior
Writer's cramp neurosis
Myotonic Disorders
Becker Generalized Myotonia
Non dystrophic myotonia
Muscle hypertrophy of the lower extremities
Obscure African cardiomyopathy
Nondystrophic myotonia
Potassium aggravated myotonia
EMG: spontaneous, repetitive electrical activity
EMG: myotonic runs
Epilepsy with grand mal seizures on awakening (disorder)
Hyperaldosteronism, Familial, Type II
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2
LEUKOENCEPHALOPATHY WITH ATAXIA
Adult Neuronal Ceroid Lipofuscinosis
Chronic pelvic pain of female
MENTAL RETARDATION, X-LINKED 15
MENTAL RETARDATION, X-LINKED 49
Renal Tubular Transport, Inborn Errors
Microscopic hematuria
X-linked recessive nephrolithiasis with renal failure
Sparse bone trabeculae
Bulging epiphyses
Increased serum 1,25-dihydroxyvitamin D3
Tibial bowing
Enlargement of the wrists
Enlargement of the ankles
Low-molecular-weight proteinuria
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Dent Disease 2
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting
Dent disease 1
Tubular atrophy
Femoral bowing
Delayed epiphyseal ossification
NEPHROLITHIASIS, X-LINKED RECESSIVE
Fibular bowing
Delayed maturation of end part of long bone
Renal glomerular fibrosis
Convulsive disorder
Chronic rhinitis
Facial paralysis
Fractures of the long bones
Opsoclonus
Osteopetrosis - intermediate type
Osteomyelitis of mandible
Generalized osteosclerosis
Osteopetrosis, mild autosomal recessive form
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis Autosomal Dominant Type 2
Congenital Osteopetrosis
Abnormality of hair texture
Abnormality of the vertebral endplates
Abnormality of hair consistency
Abnormality of hair curl pattern
Abnormality of hair volume
Autosomal Recessive Osteopetrosis
Autosomal Dominant Osteopetrosis
Increased bone density in skeletal bones
Hypochloremia (disorder)
Serum chloride level decreased (finding)
Hypokalemic hypochloremic metabolic alkalosis
Increased urinary potassium
Hyperchloriduria
Fetal polyuria
BARTTER SYNDROME, TYPE 4B
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
Increased circulating renin level
Hypokalemic metabolic alkalosis
Bartter syndrome, type 3
Bartter Syndrome, Type 3, with Hypocalciuria
Hyperactive renin-angiotensin system
Renal potassium wasting
Impaired reabsorption of chloride
Increased plasma renin activity
Abnormality of the sclera
Atrophy of prostate
Fleck corneal dystrophy
PERIODONTITIS, LOCALIZED AGGRESSIVE
Dementia, familial Danish
Contractures of the large joints
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
Horizontal Nystagmus
Scanning speech
Explosive speech
Decreased vibratory sense
Ceroid Lipofuscinosis, Neuronal, Parry Type
Dysmetric saccades
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Progressive gait ataxia
HOYERAAL-HREIDARSSON SYNDROME
Undetectable electroretinogram
Increased extraneuronal autofluorescent lipopigment
CEROID LIPOFUSCINOSIS, NEURONAL, 2
Neuronal lipopigments
Abnormal nervous system electrophysiology
Increased neuronal autofluorescent lipopigment
Alkalemia
Concentric hypertrophic cardiomyopathy
Cerebellar signs
Progressive inability to walk
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Abnormality of the cerebellum
CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CEROID LIPOFUSCINOSIS, NEURONAL, 5
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Northern epilepsy syndrome
CEROID LIPOFUSCINOSIS, NEURONAL, 6
Motor deterioration
Retinal Dysplasia
STOMATOCYTOSIS I
MiT family translocation renal cell carcinoma
aortic stenosis symptomatic
Adult atopic dermatitis
Exercise-induced hyperinsulinism
Nut Hypersensitivity
Invasive Candidiasis
Respiratory Hypersensitivity
Eczema, Infantile
Asthmatic pulmonary eosinophilia
Idiopathic retroperitoneal fibrosis
Chancroids
Pleurisy
Opsoclonus-Myoclonus Syndrome
Refractory Neoplasm
Brucellosis
Tick-Borne Encephalitis
Hemorrhagic Fever, Crimean
Chronic periaortitis
Periapical Granuloma
Smallpox
Ocular Toxoplasmosis
Infectious and parasitic diseases, unspecified
West Nile Fever
Yellow Fever
Plague, Septicemic
Infections specific to perinatal period
pediatric AIDS
Bubonic Plague
Perianal Crohn's disease
Chronic Chagas' disease
Multifocal motor neuropathy
Infective vaginitis
Seropositive rheumatoid arthritis
infertility tubal factor
lung disease granulomatous
Encephalitis, West Nile Fever
West Nile Fever Meningitis
West Nile Fever Meningoencephalitis
West Nile Fever Myelitis
Inflammatory abdominal aortic aneurysm
Pediatric human immunodeficiency virus infection
Upper urinary tract infection
WEST NILE VIRUS, SUSCEPTIBILITY TO (finding)
DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)
Enthesitis-Related Arthritis
AIDS (Disease)
ROSE Cluster 5
Encephalitis caused by tick-borne encephalitis virus
Cystadenoma of pancreas
Metastases to adrenals
Ileitis
Congenital thrombocytopenia
knee symptoms
Progression of non-small cell lung cancer
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Molluscum Contagiosum
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
anaphylaxis
Fanconi Syndrome
Rotor Syndrome
Obstruction of biliary tree
Urine color abnormal
Bone marrow toxicity
De Toni-Debre-Fanconi Syndrome
Abnormality of the gastric mucosa
Cornea plana
Liver Abscess
Peripheral visual field loss
Tunnel visual field constriction
RETINITIS PIGMENTOSA 45
Progressive retinal atrophy
RETINITIS PIGMENTOSA 49
Congenital anosmia
Hemeralopia
Achromatopsia
Color blindness
Pendular Nystagmus
Achromatopsia 1
Cone dysfunction syndrome
Dyschromatopsia
Achromatopsia 2
Progressive cone degeneration
Nystagmus, continuous pendular
Motion Sickness
Ectopic Pregnancy
Schizophrenia, Disorganized
Acute interstitial nephritis
Clasp-Knife Spasticity
Huntington Disease, Late Onset
Binge eating disorder
Polysubstance abuse
Akinetic-Rigid Variant of Huntington Disease
Juvenile Huntington Disease
Addicted to cocaine
Induced hypothermia (finding)
Secondary Parkinson Disease
Cancer Pain
Parkinson Disease, Secondary Vascular
Atherosclerotic Parkinsonism
LEPTIN DEFICIENCY OR DYSFUNCTION
Crisponi syndrome
Overlapping fingers
Oval face
Myopathy, Congenital, Compton-North
Progressive cone-rod dystrophy
Breech Presentation
Dental Calculus
Hernia, Femoral
Hyperesthesia
Cortical Congenital Hyperostosis
Lobstein Disease
Tennis Elbow
Bilateral congenital dislocation of hip
Elastosis perforans serpiginosa
Bat ear
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Ehlers-Danlos Syndrome, Type IV
Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta type IV (disorder)
Lipodermatosclerosis
Protrusio acetabuli
Hereditary Connective Tissue Disorder
Wide cranial sutures
Genu recurvatum
Bowel diverticula
Bowel diverticulosis
Conventional Dermatofibrosarcoma Protuberans
Osteogenesis imperfecta, Levin type
Biconcave flattened vertebrae
Femoral bowing present at birth, straightening with time
Periosteal thickening of long tubular bones
Molluscoid pseudotumors
Irregularly spaced teeth
Neonatal short-limb short stature
Bowing of limbs due to multiple fractures
Cigarette-paper scars
Premature birth following premature rupture of fetal membranes
Narrow maxilla
OI-EDS Combined Syndrome
Multiple prenatal fractures
Brittle Bone Disorder
Severe generalized osteoporosis
Cranial asymmetry
Wide anterior fontanel
Craniofacial disproportion
Osteogenesis Imperfecta, Type V
Crumpled long bones
Mild short stature
Metastatic Dermatofibrosarcoma Protuberans
Skeletal malocclusion
OSTEOGENESIS IMPERFECTA, TYPE III/IV
OSTEOGENESIS IMPERFECTA, TYPE IIC
OSTEOGENESIS IMPERFECTA, TYPE I, MILD
BONE MINERAL DENSITY VARIATION QUANTITATIVE TRAIT LOCUS
Relative short stature
Absent ossification of calvaria
Broad long bones
Abnormality of the thorax
Hyperextensibility of the knee
Hyperextensibility at elbow
Cortical irregularity
Ehlers-Danlos syndrome classic type
Subcutaneous spheroids
Ehlers-Danlos syndrome vascular-like type
Brain and/or spinal cord issue
Glycogen Storage Disease Type IV
Scheuermann's Disease
Arachnoid Cysts
Generalized morphea
Osteogenesis imperfecta with blue sclerae AND normal teeth
Recurrent hernia
Hypochondrogenesis
Subcutaneous hemorrhage
EDS VIIB
Ehlers-Danlos syndrome, cardiac valvular form
Calcaneovalgus deformity
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
Old thrombus
Achondrogenesis
Femur Head Necrosis
Heberden's node
Jaw Abnormalities
Neck stiffness
Vitreous degeneration
Congenital vitreous anomaly
Achondrogenesis type 2
Short extremities
Hearing problem
Narrowing of intervertebral disc space
Spade-like hand
Stickler syndrome (disorder)
Trichorhinophalangeal syndrome
Kniest dysplasia
Osteogenesis imperfecta, type 1A
Vitreoretinal degeneration
Congenital hypoplasia of femur
Synovial Hypertrophy
Schmorl's nodes
Arthritis by pattern of joint involvement
Namaqualand hip dysplasia
Spondylometaphyseal dysplasia, 'corner fracture' type
Asteroid hyalosis
Aseptic Necrosis of Femur Head
Spondyloperipheral dysplasia short ulna
Disproportionate short stature
Tracheomalacia
Hip Dysplasia
Claudication (finding)
Lumbar kyphoscoliosis
Coronal cleft vertebrae
Flattened, squared-off epiphyses of tubular bones
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification
Disc-like vertebral bodies
Severe limb shortening
Stickler Syndrome, Type I, Nonsyndromic Ocular
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
Short distal phalanx of the 5th finger
Czech dysplasia, metatarsal type
Narrow iliac wings
Hyaloideoretinal degeneration of Wagner
Abnormality of the carpal bones
Pugilistic facies
Short stature, severe disproportionate
C1-C2 subluxation
Pierre Robin syndrome with fetal chondrodysplasia
Limited elbow movement
Severe platyspondyly
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Limited hip movement
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Megaepiphyseal dwarfism
Shortening of all middle phalanges of the fingers
Anisospondyly
RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL
Flattened epiphysis
Osteoarthritis with Mild Chondrodysplasia
Enlarged joints
Prominent interphalangeal joints
Large tarsal bones
Hypoplastic ischia
Absent vertebral body mineralization
BRACHYDACTYLY, TYPE E1
Narrow femoral neck
Hypoplastic pubic bone
Spondylometaphyseal dysplasia, Algerian type
Osteophyte
Club-shaped proximal femur
Dumbbell-shaped long bone
Neonatal short-trunk short stature
Prominent joints
Horizontal ribs
Acetabular spurs
Abnormal type II collagen
Abnormal hyaline collagen
Metaphyseal dappling
Abnormality of vertebral epiphysis morphology
Limitation of knee mobility
Short distal phalanx of the 4th finger
Mild neurosensory hearing impairment
Lethal skeletal dysplasia
Short distal phalanx of the 3rd finger
Abnormal cartilage collagen
Splayed epiphyses
Cartilage destruction
Submucous cleft soft palate
Delayed calcaneal ossification
Shortening of all proximal phalanges of the fingers
Metaphyseal enchondromatosis
Absent styloid process of ulna
Aplasia/Hypoplasia of the capital femoral epiphysis
Abnormality of the vitreous humor
Abnormality of ulnar metaphysis
Abnormal enchondral ossification
Abnormality of fibula morphology
Short tubular bones of the hand
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
Delayed heel bone maturation
Dysspondyloenchondromatosis
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
Otospondylomegaepiphyseal dysplasia
Melorheostosis
Spontaneous pneumothorax
Prolapse of female genital organs
Acrogeria
Ehlers-Danlos syndrome, type 3 (disorder)
Connective tissue nevus, NOS
Arterial aneurysm
Acrogeria, gottron type
Loss of scalp hair
Vascular rupture
Endogenous Hyperinsulinism
Exogenous Hyperinsulinism
Internal hemorrhage
Diverticulosis
Dermal translucency
Absence of scalp hair
Aplasia/Hypoplasia of the earlobes
Premature delivery because of cervical insufficiency or membrane fragility
Hypermobility of distal interphalangeal joints
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1
Arteriovenous fistulas of celiac and mesenteric vessels
ANEURYSM, INTRACRANIAL BERRY, 1 (disorder)
Saccular Aneurysm
Gastrointestinal infarctions
Visual field defects
Abnormality of the urinary system
Peripheral arteriovenous fistula
Abnormality of circle of Willis
Abnormality of oral frenula
Plaque build-up in arteries
Excessive sputum secretion
Infectious Canine Hepatitis
Scotoma
MELAS Syndrome
Malignant Atrophic Papulosis
Walker-Warburg congenital muscular dystrophy
Schizencephaly
Irido-corneal dysgenesis
Quadriparesis
Retinal blind spot
Supraventricular arrhythmia
Absence of septum pellucidum
Multiple renal cysts
Muscle eye brain disease
Paralytic stroke
Familial hematuria
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
Retinal arteriolar tortuosity
Retinal vascular tortuosity
STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO
RETINAL ARTERIES, TORTUOSITY OF
PORENCEPHALY, FAMILIAL
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Familial vascular leukoencephalopathy
Familial schizencephaly
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
Post-traumatic Porencephaly
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES
Abnormal levels of creatine kinase in blood
Abnormal aldolase level
Chorioretinal dysplasia
Posterior leukoencephalopathy
Aplasia/Hypoplasia involving the skeletal musculature
Tumour budding
Abnormal lactate dehydrogenase activity
Metatarsal Valgus
Developmental Porencephaly
Hereditary nephritis
PORENCEPHALY 2
Rapidly progressive glomerulonephritis
Benign hematuria
Lenticonus
Hematuria, Benign Familial
Polymorphous corneal dystrophy
Anterior lenticonus
Thin basement membrane disease
Thickening of glomerular basement membrane
Chandler syndrome
Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Recessive
Pierson syndrome
CORNEAL ENDOTHELIAL DYSTROPHY 2
Alport syndrome, dominant type
Alport syndrome, recessive type
Hemorrhagic hereditary nephritis
Diffuse glomerular basement membrane lamellation
Retinal lattice degeneration
Leiomyomatosis, esophageal and vulval, with nephropathy
Chronic idiopathic pulmonary fibrosis
High-frequency sensorineural hearing impairment
Mild proteinuria
Diffuse leiomyomatosis
Leiomyoma of esophagus
Cochlear malformation
DEAFNESS, X-LINKED 6
Congenital kyphoscoliosis
Acquired Kyphoscoliosis
Floppy
Bilateral talipes equinovarus
Edema of dorsum of foot
Vertebral Artery Dissection
Phrynoderma
Diaphragmatic paresis
Recurrent chest infections
Ankle contracture
Nocturnal hypoventilation
Hyperextensibility at wrists
Increased laxity of ankles
Increased laxity of fingers
Long toe
Adducted thumb
Diminished diaphragmatic motion
Increased endomysial connective tissue
Ecthyma, Contagious
Thoracolumbar scoliosis
Myosclerosis
Myosclerosis, Autosomal Recessive
Hyperextensible hand joints
Restricted neck movement due to contractures
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Laryngeal dystonia
Oromandibular dystonia
Congenital hereditary muscular dystrophy
DYSTONIA 27
Bulla
Cheilitis
Cicatrization
Esophageal Stenosis
Microglossia
Cockayne-Touraine Disease
Ankyloglossia
Larsen syndrome
Boerhaave syndrome
Atrophy of tongue
Congenital scar
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Milium Cyst
Wasting of tongue
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Localized recessive dystrophic epidermolysis bullosa
Generalized dystrophic epidermolysis bullosa
Nail absent (finding)
Oral mucosal blisters
Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Simplex Superficialis
TOENAIL DYSTROPHY, ISOLATED
Transient bullous dermolysis of the newborn
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
Abnormality of the vagina
Mitten deformity
Congenital localized absence of skin
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
Larsen syndrome, dominant type
Scarring alopecia of scalp
Skin Vesicle
Abnormality of nail of toe
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
Palmoplantar blistering
Late-onset muscular dystrophy
Abnormality of the anus
Red and sore lips
Dystrophic epidermolysis bullosa nails only
Loss of eyelashes
Centripetalis recessive dystrophic epidermolysis bullosa
Acral dystrophic epidermolysis bullosa
Descemet's membrane fold
Corneal degeneration
Corneal guttata
Corneal stromal edema
Congenital hereditary endothelial dystrophy
Corneal dystrophy, Fuchs' endothelial, 1
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
Hip pain
Serous retinal detachment
Homozygous alpha thalassemia
Degenerative vitreoretinopathy
Irregular epiphyses
Small epiphyses
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
STICKLER SYNDROME, TYPE IV
Flat distal femoral epiphysis
Irregular distal femoral epiphysis
Degeneration of lumbar intervertebral disc
Chronic sciatica
Epiphyseal dysplasia, multiple, 2
LUMBAR DISC DEGENERATION, SUSCEPTIBILITY TO (finding)
LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
STICKLER SYNDROME, TYPE V
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY
Abnormality of the hip joint
Metaphyseal chondrodysplasia Schmid type
Irregular acetabular roof
Metaphyseal cupping of proximal phalanges
Diaphyseal thickening
Metaphyseal cupping of metacarpals
Enlargement of the proximal femoral epiphysis
Broad middle phalanx of finger
Distal tibial bowing
Abnormality of bone mineral density
Proximal femoral metaphyseal abnormality
Intervertebral Disk Displacement
Marshall syndrome
Fibrochondrogenesis
Congenital keratoglobus
Thin clavicle
Upper airway obstruction
Corneal diameter increased
Macrodontia of permanent maxillary central incisor
Wide tufts of distal phalanges
Broad ischia
Hypoplastic toenails
Thick upper lip vermilion
Widely patent coronal suture
Widely patent sagittal suture
Posterior vertebral hypoplasia
Hypoplastic fingernail
STICKLER SYNDROME, TYPE II (disorder)
Long fingers
Bell-shaped thorax
Ulnar bowing
FIBROCHONDROGENESIS 1
MARSHALL/STICKLER SYNDROME
Abnormal diaphysis morphology
Meningeal calcification
Small proximal tibial epiphyses
Small distal femoral epiphysis
Irregular proximal tibial epiphyses
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome
Increased size of permanent maxillary central incisor
Hypertrophy of permanent maxillary central incisor
Hyperplasia of permanent maxillary central incisor
USHER SYNDROME, TYPE IIA
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
Stickler syndrome, type 3
Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 13
FIBROCHONDROGENESIS 2
Grip strength decreased
BETHLEM MYOPATHY 2
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
MYASTHENIC SYNDROME, CONGENITAL, 19
BASAL LAMINAR DRUSEN (disorder)
Pemphigoid Gestationis
Epidermolysis Bullosa Progressiva
Epidermolysis Bullosa Simplex
Recurrent erosion of cornea
Adult junctional epidermolysis bullosa (disorder)
Congenital leukocyte adherence deficiency
Lichen planus pemphigoides
Linear IgA Bullous Dermatosis
Junctional epidermolysis bullosa mitis
Paraneoplastic pemphigus
Hyperhidrosis Palmaris Et Plantaris
Fingerprints, Absence of
Epithelial Recurrent Erosion Dystrophy
Palmar hyperhidrosis
Plantar hyperkeratosis
Fragile nails
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
Epidermolysis bullosa inversa dystrophica
JEB-I
Congenital pyloric atresia
Late-onset junctional epidermolysis bullosa
Interleukin 18 Measurement
Joint Instability
Ulnar deviation of the wrist
Ulnar deviation of hand
Atlantoaxial subluxation
Pseudochondroplasia
Cervical cord compression
Epiphyseal dysplasia, multiple, 1
Fairbank disease
Epiphyseal Dysplasia, Ribbing Type
Spatulate ribs
Carpal bone hypoplasia
Childhood onset short-limb short stature
Fragmented, irregular epiphyses
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
Small epiphyses of the phalanges of the hand
Ulnar metaphyseal irregularity
Radial metaphyseal irregularity
Fragmented epiphyses
Irregular carpal bones
Flared femoral metaphysis
Small wrist bones
Anencephaly
Disruptive Behavior Disorder
Musculoskeletal Pain
Narcissism
Neonatal Abstinence Syndrome
Pain, Postoperative
Gambling, Pathological
Premature Ejaculation
Sciatica
Chronic Headache
Central nervous system depression (disorder)
Kleine-Levin Syndrome
Catch - Finding of sensory dimension of pain
Free-floating anxiety
Mechanical pain
Irrational thoughts
Selenium deficiency
Chronic tension-type headache
Vulvodynia
Cardiovascular symptoms
Schizophrenia Spectrum and Other Psychotic Disorders
Aggressive personality
homicidal
manic symptom
Chronic Daily Headache
Gender disorders
Treatment related secondary malignancy
Chronic pain syndrome
Chronic Cancer Pain
Methamphetamine abuse
Acute postoperative pain
Motor disturbances
Stimulant dependence
headache severe
Physical Anhedonia
Mental Disorders, Severe
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
Liver mass
Central pain
Flavivirus Infections
Acute disseminated encephalitis and encephalomyelitis (ADEM)
Hereditary Motor and Sensory Neuropathies
Roussy-Levy Syndrome (disorder)
Gait, Drop Foot
Hypertrophic neuropathy of infancy
Hereditary motor and sensory neuropathy, types I-IV
Onion bulb formation
Peroneal muscular atrophy (axonal type) (hypertrophic type)
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
Increased hepatocellular lipid droplets
Vitritis
Small chin
Sclerocornea
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
Short lower third of face
Abnormality of the nasolacrimal system
Skin Manifestations
Spinal Cord Neoplasms
Central retinal vein occlusion
Disorder of vein
Moderate hereditary factor VIII deficiency disease
Acquired von Willebrand's disease
Harderoporphyria
Acute hepatitis C
Hemophilia A carrier
drug substitution (abuse)
Acquired haemophilia
Dysfibrinogenemia
von Willebrand Disease, Type 2
von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2B
von Willebrand disease type 2M
von Willebrand Disease, Type 2N
Radial scar
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
Leigh syndrome , French Canadian type
Group B Streptococcal Infection
Severe hereditary factor VIII deficiency disease without inhibitor
Ductal Carcinoma In Situ with Microinvasion
Deficiency of factor V [labile]
Guillain-Barre Syndrome, Familial
Hereditary liability to pressure palsies
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Necrotizing encephalopathy, infantile subacute, of Leigh
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2
Deficiency Diseases
Iron Metabolism Disorders
Hemosiderosis
Pasteurellaceae Infections
Cogwheel Rigidity
Hepatic infarction
Lingual-Facial-Buccal Dyskinesia
Hemiballismus
Asterixis
Serum iron low (finding)
Involuntary Movements
Oral Dyskinesia
Serum ceruloplasmin measurement
Ballismus
Basal ganglion degeneration
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA
Familial apoceruloplasmin deficiency
Neurodegeneration with brain iron accumulation (NBIA)
HERMANSKY-PUDLAK SYNDROME 3
Postpartum Amenorrhea
Yersinia infections
Antibiotic-associated diarrhea
First myocardial infarction
Hyperproinsulinemia
Neoplastic disease of uncertain behavior
Foot-and-Mouth Disease
Incontinence
Corneal dystrophy, Lattice type 3
Metaplastic carcinoma
ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
Carboxypeptidase N Deficiency
Finding of creatine kinase level
Hereditary Coproporphyria
Coproporphyria
CLEFT PALATE, X-LINKED
Cleft Palate with Ankyloglossia
Acute episodes of neuropathic symptoms
COPROPORPHYRIA, DIGENIC
Neonatal hemolytic anemia
Fragmented sleep
Amino acids measurement
Carbamoyl-Phosphate Synthase I Deficiency Disease
Psychogenic coma
Low plasma citrulline
VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO
PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Carbamoyl Phosphate Synthase 1 Deficiency
Disorder of fatty acid metabolism
Carnitine palmitoyl transferase 1A deficiency
Recurrent encephalopathy
Transient hyperlipidemia
Prenatal maternal abnormality
Brain Diseases, Metabolic
Myoglobinuria
Respiratory arrest
Double ureter
Elevated total bilirubin
Central Nervous System Metabolic Disorders
Metabolic Disorder, Central Nervous System, Acquired
Brain Diseases, Metabolic, Acquired
Acquired Metabolic Diseases, Nervous System
Hepatic calcification
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Intracerebral periventricular calcifications
Antenatal intracerebral hemorrhage
Basal ganglia cysts
Macrovesicular hepatic steatosis
Increased muscle lipid content
Elevated serum long-chain fatty acids
Long-chain dicarboxylic aciduria
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4
Decreased plasma free carnitine
Tapered toe
Decreased plasma total carnitine
Blood Sedimentation
Adult T Lymphoblastic Lymphoma
Childhood T Lymphoblastic Lymphoma
IMMUNODEFICIENCY, COMMON VARIABLE, 7
Methylmalonic acidemia
Adult Malignant Peripheral Nerve Sheath Tumor
Methylmalonic aciduria
Duodenal Neoplasms
Leukoplakia, Hairy
Morphine Abuse
diabetes mellitus risk
AROMATASE EXCESS SYNDROME
Neonatal encephalopathy
Cerebellar lesion NOS
Lacrimal Duct Obstruction
Vascular ring
Facial grimacing
Panhypopituitarism
Fetal hydantoin syndrome
Dens evaginatus
Erythrophagocytosis
Talon cusp
Premature development of the breasts
Mirror movements disorder
Deviated nasal septum
Phonophobia
Patellar Dislocation
Hair whorls
Obstruction of nasolacrimal duct
Abnormal number of teeth
Prominent fingertip pads
Low anterior hairline
Bifid uterus
Prominent columella
Abnormality of the cervical spine
Long eyelashes
Low hanging columella
Chorioretinal dystrophy
Poikiloderma with Neutropenia
Duplication of phalanx of hallux
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL
Plantar crease between first and second toes
Glaucoma Adverse Event
SPHEROCYTOSIS, HEREDITARY, 2
Upswept frontal hair pattern
AML M5b
Upswept frontal hairline
Partial/complete duplication of the phalanges of the hallux
Cornela disease
Papillary cystadenoma of the epididymis
Radial deviation of thumb terminal phalanx
High axial triradius
Abnormality of refraction
Extra cusp on inside of front tooth
Rounded columella
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Body Rocking
Head Banging
Pituitary Apoplexy
Pancreatic Cholera
Neuroretinitis
ACTH-dependent Cushing's syndrome
Cryptogenic Infantile Spasms
Symptomatic Infantile Spasms
Fecal peritonitis
Nodding spasm
Jackknife Seizures
Obsessive compulsive behavior
Hepatic cancer metastatic
Sarcoid arthritis
spasmus nutans
Salaam Seizures
Precordial Catch Syndrome
Early Inflammatory Arthritis
Colonic Diseases, Functional
Lichen Simplex Chronicus
Paroxysmal nocturnal dyspnea
Dementia, familial British
Rotavirus Infections
Scrub Typhus
Dental White Spot
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
Destructive Arthritis
Parkinson Disease, Familial, Type 1
Conotruncal defect
Chronic cough
Legionnaires' Disease
Nose Diseases
Pericementitis
Chills
Adnexal mass
Deep thrombophlebitis
Sickle cell-beta-thalassemia
furuncle
Chorea Acanthocytosis Syndrome
Alveolitis
Regional enteritis
Febrile Neutropenia
Periodontal infection
Sickle cell-beta^+^-thalassemia
Carditis
IIeocolitis
Thromboembolic stroke
Pneumococcal bacteraemia
Renal tubular necrosis
Refractory Cytopenia of Childhood
Immune reconstitution inflammatory syndrome [IRIS]
Intrapartum fever
Primary cholangiocarcinoma of intrahepatic biliary tract
Extraocular retinoblastoma
Hormone measurement
Macular dystrophy, concentric annular
Aplasia/Hypoplasia of the cerebellar vermis
LEBER CONGENITAL AMAUROSIS 7
Cerebellar vermis aplasia or hypoplasia
Cone-Rod Dystrophy 2
Congenital Amaurosis of Retinal Origin
Abnormality of the optic disc
Benign concentric annular macular dystrophy
Delayed sleep phase
winter depression
Congenital total cataract
Cataract, Autosomal Recessive Congenital 1
CATARACT 9, AUTOSOMAL RECESSIVE
Congenital lamellar cataract
Congenital posterior polar cataract
Multiple System Atrophy
Disorder of skeletal muscle
Alpha-B Crystallinopathy
Decreased Achilles reflex
Polar cataract
Cataract, Posterior Polar, 2
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED
CARDIOMYOPATHY, DILATED, 1II
CATARACT 16, MULTIPLE TYPES
Late-onset proximal muscle weakness
Embryonal nuclear cataract (disorder)
Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Central Saccular, With Sutural Opacities
Posterior Y-sutural cataract
CATARACT 42
CATARACT 23, MULTIPLE TYPES
Cataract, Pulverulent
CATARACT, COPPOCK-LIKE
Cataract, Congenital Nuclear, Autosomal Recessive 3
CATARACT 17, MULTIPLE TYPES
Nuclear pulverulent cataract
Cataract, congenital, cerulean type 1
Congenital membranous cataract
Cataract, Congenital, Cerulean Type, 2
Sutural cataract
Cataract, Congenital Nuclear, Autosomal Recessive 2
CATARACT 39, MULTIPLE TYPES
CATARACT 2, COPPOCK-LIKE
Propionic acidemia
Juvenile cataract
Coralliform cataract
Inflammatory polyarthritis
Organic acidemias
CATARACT, CONGENITAL, CERULEAN TYPE, 3
CATARACT, CRYSTALLINE ACULEIFORM
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
CATARACT 4, MULTIPLE TYPES
Cataract, Punctate, Progressive Juvenile-Onset
CATARACT 20, MULTIPLE TYPES
DEAFNESS, AUTOSOMAL DOMINANT 40
TYPHUS
Angiomatosis, Bacillary
Typhus group rickettsial disease
Infected ascites
Lymph Node Tuberculosis
Arteriosclerosis Obliterans
Pigmented villonodular synovitis
Adamantinoma
Hereditary Diffuse Leukoencephalopathy with Spheroids
Gait, Shuffling
Fibrosing adenosis
Menstrual spotting
Vasculitis, Central Nervous System
Breast Sclerosing Adenosis
Hereditary Hyperexplexia
Neuronal loss in central nervous system
Lymphoblastic B-cell lymphoma
Aspergillosis
Encephalomyelitis, Acute Disseminated
Ileal Diseases
Intermittent Explosive Disorder
Keratoconjunctivitis, Vernal
Meningism
Myeloid hyperplasia
Polyradiculopathy
Purpura Fulminans
MPS III B
Mumps meningitis
Malignant neoplasm of cerebellum
Neural hearing loss
Pneumonia and influenza
Chronic skin ulcer
Hypoplastic anemia
Cytomegalovirus encephalitis
17-Hydroxysteroid Dehydrogenase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Homocarnosinosis
Acute necrotizing myelitis
Herpes encephalitis
Enterovirus meningitis
AIDS-related primary CNS lymphoma
Inflammatory disease of mucous membrane
Limbic Encephalitis
Central nervous system candidiasis
Brainstem encephalitis
Visual symptoms
Non-obstructive reflux-associated chronic pyelonephritis (disorder)
meningitis/encephalitis
Intracranial Hypotension
Residual Tumor
Drug exanthem
Lymphohistiocytosis
Haemophilus influenzae Meningitis Type B
Invasive Fungal Infections
Aplastic bone marrow
Viral meningoencephalitis
Pulmonary Histiocytosis X
Cerebral abscess
Basal ganglia disease, biotin-responsive
Glut1 Deficiency Syndrome
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
Surfactant Metabolism Dysfunction, Pulmonary, 4
Pediatric Crohn's disease
Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Homocarnosinase deficiency
Reflux nephropathy (disorder)
Bone marrow failure syndrome 1
Bone marrow failure syndrome 2
Multiple sclerosis in children
Immunosuppression
Pelizaeus Merzbacher like disease
HIV-associated neurocognitive disorder
Dystonia 3, Torsion, X-Linked
Pulmonary alveolar proteinosis, congenital
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
Dominant beta-thalassemia
Hepatic Veno-Occlusive Disease
Leukemoid Reaction
Ocular Headache
Splenic Infarction
Neoplasms, Therapy-Associated
Primary ulcer of intestine
Polyarthralgia
Leiomyosarcoma, Epithelioid
Leiomyosarcoma, Myxoid
Cytomegalovirus Retinitis
Linear Scleroderma
Ectopic tooth
Chronic neutrophilia
Bone Marrow Neoplasms
Throbbing Headache
Bilateral Headache
Generalized Headache
Neutrophilia, Hereditary
Vaso-Occlusive Crisis
Orthostatic Headache
Periorbital Headache
Retro-Ocular Headache
Sharp Headache
Vertex Headache
Impairment, Light Touch Sensation
Pain Sensation Diminished
Pinprick Sensation Diminished
Position Sense Disorders
Proprioceptive Disorders
Thermal Sensation Disorders
Somatosensory Disorders
Undifferentiated (Embryonal) Sarcoma
Hemicrania
Radiculomyelopathy
Neonatal Early-Onset Sepsis
Pericardial mesothelioma
Severe beta thalassemia
Neutropenia, severe chronic
Clinical Chorioamnionitis
Neutrophilia (finding)
Arthritic pains
Idiopathic neutropenia
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Adult Myelodysplastic Syndrome
Elevated leukocyte alkaline phosphatase
NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
Cerebrooculofacioskeletal Syndrome 1
breast cancer and pregnancy
Pituitary cachexia
Sheehan Syndrome
Isolated Growth Hormone Deficiency, Type II
Isolated gonadotropin deficiency
Isolated lutropin deficiency (disorder)
Idiopathic growth hormone deficiency
Isolated deficiency of pituitary hormone
Necrosis of pituitary gland (postpartum)
Pituitary short stature
15q24 Microdeletion
Advanced sleep phase
Advanced Sleep-Phase Syndrome, Familial
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
Classical Glioblastoma
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Sleep Latency
Lean body mass
Non-Hereditary Clear Cell Renal Cell Carcinoma
Peripheral traction retinal detachment
Optically empty vitreous
brain cyst
Sarcoma 180
Hereditary cystatin C amyloid angiopathy
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Cystatin C measurement
Cerebral Amyloid Angiopathy, Genetic
Age-Related Macular Degeneration type 11
Harlequin type ichthyosis
Phosphorus measurement
ICHTHYOSIS EXFOLIATIVA
Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like
Global brain atrophy
cerebellar function
Double Outlet Right Ventricle
Thyroid Hypoplasia
Interrupted aortic arch
POLYDACTYLY, POSTAXIAL
Congenital atresia of aortic valve
Congenital hypoplasia of aortic arch
Ectopic thyroid tissue (disorder)
Congenital atresia of mitral valve
Prolonged PR interval
Muscular ventricular septum defect
Splenic Hypoplasia
Thyroid Agenesis
Coronary sinus defect
ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
Dilatation of the aortic arch
CONOTRUNCAL HEART MALFORMATIONS (disorder)
Hereditary bundle branch system defect
Thoracic aorta calcification
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
Patent or persistent ostium secundum defect (type II)
Patent or persistent sinus venosus defect
Chromosome 5, monosomy 5q35
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
VENTRICULAR SEPTAL DEFECT 3
HYPOPLASTIC LEFT HEART SYNDROME 2
Atrial Septal Defect with Atrioventricular Conduction Defects
Discordant ventriculoarterial connection
Aortic Valve Disease 1
Athyroidal hypothyroidism
Abnormality of cardiovascular system morphology
Hereditary persistence of fetal hemoglobin thalassemia
Stinging Sensation
Perry Syndrome
Toeing-in
Rieger syndrome
Accessory spleen
Stenosis of external auditory canal
Narrowing of ear canal
Pitt-Rogers-Danks Syndrome
Congenital ectopic pupil
Periventricular cysts
Persistent cavum septum pellucidum
Hyperconvex fingernails
Abnormal sternal ossification
Malrotation of small bowel
Prominent glabella
Pseudoepiphyses of the metacarpals
Rib segmentation abnormalities
Craniofacial asymmetry
Metatarsus Varus
Abdominal obesity metabolic syndrome
Tendinitis
Chronic glomerulonephritis
Rheumatic aortic regurgitation
Pulmonary congestion
Mitral and aortic incompetence
Pancreatitis, Acute Necrotizing
Hyperosmolality
Nephritic syndrome
Diffuse malignant mesothelioma
Scleroderma-like secondary cutaneous sclerosis
Severe persistent asthma
Encapsulating Peritoneal Sclerosis
BORNHOLM EYE DISEASE
Retinal Neovascularization
Cystathioninuria
Gamma-cystathionase deficiency
Cystathionase Deficiency
Cellulitis of periorbital region
Periorbital edema
Chronic infectious disease
Lobomycosis
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Periorbital swelling
Granulomatosis
Blood autoimmune disorders
Deficiency of vitamin D3
Dysplasia of colon
Latent Autoimmune Diabetes in Adults
DIABETES MELLITUS, INSULIN-DEPENDENT, 12
Latent autoimmune diabetes mellitus in adult
Recurrent intrapulmonary hemorrhage
CTLA4 Haploinsufficiency
Small vessel vasculitis
Abnormality of the oral cavity
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Patterned dystrophy of retinal pigment epithelium
Butterfly-shaped pigmentary macular dystrophy
Interleukin 10 Measurement
Corneal Ulcer
Juvenile nephropathic cystinosis (disorder)
Abnormality of thyroid physiology
Corneal crystalline deposits
Generalized aminoaciduria
Hyperchloremic metabolic acidosis
CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)
Cystinosis, benign, nonnephropathic
Cystinosis, Infantile Nephropathic
Epithelial corneal erosions
Abnormality of vitamin D metabolism
Elevated intracellular cystine
Tubulointerstitial abnormality
Cystinosis
Primary Hypothyroidism
Benign neoplasm of skin
Osteoma
Epigastric pain
Small intestine carcinoma
Childhood Hepatocellular Carcinoma
Familial Exudative Vitreoretinopathy
Vascular calcification
Transitional cell dysplasia
Nephrogenic rest, intralobar
Nephrogenic rest, perilobar
Biphasic Pulmonary Blastoma
Exudative vitreoretinopathy 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Pancreaticobiliary Malunion
EXUDATIVE VITREORETINOPATHY 7
Cri-du-Chat Syndrome
Microretrognathia
Monosomy 5p
Severe viral infections
IMMUNODEFICIENCY 24
Defective T cell proliferation
Fascioliasis
alpha-Mannosidosis
Meleda Disease
Sparganosis
Necrotizing fasciitis
Keratolytic winter erythema
glycosphingolipidoses
Giardia duodenalis Infection
Early fontanel closure
Diabetic macular edema
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY
Neuronal Ceroid Lipofuscinosis, Congenital
Early closure of the bregma sutures
Platelet thrombus
Secondary malignant neoplasm of kidney
Abnormal rapid eye movement sleep
Pycnodysostosis
Failure of exfoliation of primary tooth
Calcific tendinitis
Perivascular Epithelioid Cell Neoplasms
Skull Base Chordoma
Osteolytic defects of the distal phalanges of the hand
Abnormal pelvis bone ossification
Abnormal maturation of the pelvis bone
vascular aneurysm
Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma
Vasculitis, Leukocytoclastic, Cutaneous
Headache recurrent
Acute otitis media
Hepatopulmonary Syndrome
Leukocytoclastic vasculitis
MACULAR DEGENERATION, AGE-RELATED, 12
Swine Vesicular Disease
Color Blindness, Red
MYOPIA 1, X-LINKED
Decreased fertility in males
Adrenal hyperplasia, congenital, type 5
Congenital Methemoglobinemia
Decreased testosterone level
Primary gonadal insufficiency
METHEMOGLOBINEMIA TYPE IV
Methemoglobinemia, Type I
17,20-Lyase Deficiency, Isolated
Abnormality of creatine metabolism
Absence of secondary sex characteristics
Enlarged polycystic ovaries
Decreased serum testosterone level
Coronary Artery Vasospasm
Rectal abscess
Perirectal abscess
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
Deficiency or absence of cytochrome b(-245)
Decreased activity of NADPH oxidase
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Recurrent Staphylococcus aureus infections
Autosomal Recessive Chronic Granulomatous Disease
Recurrent Klebsiella infections
Recurrent Aspergillus infections
Recurrent Burkholderia cepacia infections
Recurrent Serratia marcescens infections
End stage COPD
Negative nitroblue tetrazolium reduction test
Chronic granulomatous disease, type II
Dystrophic cardiomyopathy
Anterior Cerebral Circulation Infarction
Anterior Circulation Brain Infarction
Brain Infarction, Posterior Circulation
Venous Infarction, Brain
Varicella, Severe Recurrent
Atypical Mycobacteriosis, Familial, X-Linked 2
ZAP70 deficiency
Recurrent mycobacterial infections
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Liver Abscess, Amebic
Short Bowel Syndrome
Pneumonia due to Escherichia coli
Transmissible mink encephalopathy
Disease caused by Shigella sonnei
Eccrine spiradenoma
Eccrine dermal cylindroma
Ancell-Spiegler cylindromas
Liquid Tumor
Macular Edema, Cystoid
Arteritis
Female Genital Diseases
Hemorrhoids
Mycoplasma pneumonia
Sinus Tachycardia
Chronic stable plaque psoriasis
Aryl Hydrocarbon Hydroxylase Inducibility
Tricuspid Valve Stenosis
Malignant neoplasm of heart
Caffeine related disorders
Endometriosis of pelvis
Uroporphyrinuria
Sporadic porphyria cutanea tarda
Anterior synechiae
Posterior synechiae
Raised intraocular pressure
Subcapsular cataract
Menopausal symptom
Simple buphthalmos
Irido-corneo-trabecular dysgenesis (disorder)
Hot flushes
GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 3, PRIMARY CONGENITAL, A
Late onset congenital glaucoma
Anterior segment mesenchymal dysgenesis
Glaucoma of childhood
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET (disorder)
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
Early-Onset Glaucoma
Central opacification of the cornea
Abnormality of Descemet's membrane
Juvenile open angle
Cardiovascular disease+Pulmonary disease
ANTERIOR SEGMENT DYSGENESIS 6
Thinning of Descemet membrane
Liver Diseases, Parasitic
Opisthorchiasis
Centriacinar Emphysema
Panacinar Emphysema
Opisthorchis felineus Infection
Opisthorchis viverrini Infection
Coumarin Resistance
Focal Emphysema
Hallucinations, Tactile
Food-Drug Interactions
Vitamin D-dependent rickets, type 1
Cancer of Digestive System
Hepatic impairment
Polybrominated biphenyl measurement
Deficiency of monooxygenase
Deficiency of lyase
ICHTHYOSIS, LAMELLAR, 3
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
Glucocorticoid deficiency
WARFARIN SENSITIVITY (disorder)
Niemann-Pick Disease, Type C1
EFAVIRENZ, POOR METABOLISM OF
EFAVIRENZ CENTRAL NERVOUS SYSTEM TOXICITY, SUSCEPTIBILITY TO
Pneumonia in children
Pharyngitis
Gonadotropin-Resistant Ovary Syndrome
Sore Throat
Healing ulcer
Drug Metabolism, Poor, CYP2C19-Related
Hypergonadotropic Ovarian Failure, X-Linked
Acute gastrointestinal hemorrhage
Disease of diaphragm
Coumarin Sensitivity
Basal Ganglia Diseases
Colonic Diseases
Frigidity
Hypoactive Sexual Desire Disorder
Malignant Carcinoid Syndrome
Neuroleptic Malignant Syndrome
Orgasmic Disorder
Psychophysiologic Disorders
Psychosexual Disorders
Gegenhalten
Catatonic Rigidity
Extensor Rigidity
Extrapyramidal Rigidity
Psychasthenic neurosis
Vomiting, Postoperative
Postoperative Nausea and Vomiting
Pseudoparkinsonism
atrial fibrillation new onset
Lenticulostriate Disorders
Nuchal Rigidity
Drug Metabolism, Poor, CYP2D6-Related
response to SSRI
Halothane Hepatitis
Infection by Polymorphus
Cirrhosis - non-alcoholic
Sarcoma, Engelbreth-Holm-Swarm
Deformity of limb
Osteomalacia secondary to drug
ASSAY FOR TACROLIMUS
Arteriolar hyalinosis
Calcineurin Nephrotoxicity
Abnormality of vitamin E metabolism
Abnormality of vitamin A metabolism
Acute hepatic steatosis
Lipoid congenital adrenal hyperplasia
Hypovolemia
Bronze skin
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
EDICT syndrome
46,XY Sex Reversal 3
Adrenal Insufficiency, Congenital
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
Adrenocorticotropic hormone excess
Increased circulating ACTH level
Ambiguous genitalia, male
Abnormal urine potassium concentration
Abnormality of the Leydig cells
Low maternal serum estriol
Generalized bronze hyperpigmentation
Abnormality of cholesterol metabolism
Decreased circulating androgen level
Induced vaginal delivery
Hypokalemic alkalosis
Ectopic adrenal gland
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Corticosterone Methyl Oxidase Type I Deficiency
Increased size of penis
Adrenogenital Syndrome
Adrenocortical hyperplasia
Premature adrenarche
Abnormal circulating aldosterone
Female sexual dysfunction
Precocious puberty in males
Ambiguous genitalia due to virilization
Accelerated bone age after puberty
Corticosterone Methyl Oxidase Type II Deficiency
11-Beta-hydroxylase deficiency
Familial hyperaldosteronism type 1
Penile melanosis
Glucocorticoid-remediable familial primary aldosteronism
Familial primary hyperaldosteronism type 1
Hyperpigmented genitalia
Dexamethasone-suppresible primary hyperaldosteronism
Abnormality of hair growth rate
Abnormality of prenatal development or birth
Ambiguous genitalia, female
Increased circulating androgen level
Intermittent fever
Hypoaldosteronism, Hyporeninemic
high renin hypertension
Adrenogenital disorder
Adrenal hyperplasia, bilateral
Froehlich's Syndrome
Sexual Infantilism
Stuttering, Developmental
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
Pelvic Pain
Hyperestrogenism
Follicle stimulating hormone measurement
Choroid Plexus Papilloma
Estradiol measurement
Central Precocious Puberty
Idiopathic central precocious puberty
Early menarche
Vaginal septum
Dysmetabolic syndrome
Genital Infantilism
Endometrial Polyp
Macroorchidism, postpubertal
Aromatase deficiency
Maternal virilization in pregnancy
Eunuchoid habitus
Wasting Syndrome
Mild steroid 21-hydroxylase deficiency
Late onset congenital adrenal hyperplasia
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
Mineralocorticoid deficiency
ADENOMA, CORTISOL-PRODUCING
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Hypercalcemia, Idiopathic, of Infancy
Elfin facies
Hypervitaminosis
Hypercalcemia, Infantile
Idiopathic infantile hypercalcemia - mild form
Adenocarcinoma of liver
Vitamin D-resistant rickets
Hypercalcemia, Infantile, 1
Hypercalcemia, infantile, 2
Antley-Bixler Syndrome with Disordered Steroidogenesis
Pseudobulbar Palsy
EEG with generalized slow activity
Abnormality of the dentate nucleus
Abnormality of central somatosensory evoked potentials
EMG: axonal abnormality
Alkaline phosphatase raised
Vitamin D-dependent rickets
Polymyositis Ossificans
Vitamin D-Dependent Rickets, Type 2A
Polymyositis, Idiopathic
Atrichia
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Deformed rib cage
Bulging of the costochondral junction
Hypocalcemic seizures
Enlargement of the costochondral junction
Abdominal wall muscle weakness
Subperiosteal bone resorption
Abnormal conjugate eye movement
Limb dysmetria
SPINOCEREBELLAR ATAXIA 37
Uncoordinated limb movement
ovarian serous tumor
Epithelioid mesothelioma, malignant
Otofaciocervical Syndrome
Idiopathic Hypercatabolic Hypoproteinemia
Protein-Losing Enteropathies
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
Lassa Fever
Infections, Arenavirus
Cobblestone Lissencephaly
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, CONGENITAL, 1C
Cerebellar cyst
alpha-Dystroglycanopathies
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
Conjunctival Diseases
Ovarian Mucinous Adenocarcinoma
spinal cord involvement
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
Hantavirus infection in conditions classified elsewhere and of unspecified site
Partial chromosome Y deletion
Spermatogenic Failure, Nonobstructive, Y-Linked
Male sterility due to Y-chromosome deletions
Papillary transitional cell neoplasm of low malignant potential
Severe major depression with psychotic features
dopamine beta hydroxylase deficiency
Pure Autonomic Failure
Retrograde ejaculation
Depression, psychotic
Intermittent hypothermia
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
Disorder of branched-chain amino acid metabolism
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II
Cognition
Gingival Neoplasms
Benign neoplasm of esophagus
Carcinoma in situ of esophagus
Respiratory quotient
Stage II Colorectal Cancer
MIRROR MOVEMENTS 1
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Stage II Colorectal Cancer AJCC v7
Corpus Callosum Malformation
ESOPHAGEAL CARCINOMA, SOMATIC
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
Achondrogenesis, type IB (disorder)
Intramuscular Myxoma
Congenital corneal dystrophy
Corneal Dystrophy, Congenital Stromal
EHLERS-DANLOS SYNDROME, PROGEROID FORM
Increased corneal thickness
aspirin intolerance
Infant, Premature, Diseases
Intestinal Perforation
Ocular Hypotension
Overanxious disorder
Tachycardia, Ectopic Junctional
Vasovagal syncope
Water Intoxication
Aneurysm, Ruptured
Coronavirus Infections
Recurrent depression
Left atrial hypertrophy
Borderline hypertension
Ventricular dilatation (disorder)
Anterior myocardial infarction
Lone atrial fibrillation
High altitude pulmonary hypertension
Dysgerminoma of ovary
Steroid-sensitive nephrotic syndrome
H/O: depression
Moderate obesity
Cardiovascular Pathology
Hypertensive emergency
Persistent dry cough
asthma with copd
skin fold (abnormality)
Infantile nystagmus syndrome
Chronic uremia
Familial neurocardiogenic syncope
Noncompaction cardiomyopathy
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
Left Main Coronary Artery Stenosis
Acute Anterior Wall Myocardial Infarction
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding)
Refractory Thrombocytopenia
Complex regional pain syndrome I, unspecified
Stroke, Lacunar
One Vessel Coronary Disease
Renal Artery Disease
Mild Bronchopulmonary Dysplasia
Vocal Cord Paralysis
Laryngeal Paralysis
Inappropriate behavior
Hand muscle weakness
Voice Fatigue
Familial Motor Neuron Disease
Vertical gaze palsy
Behavioral syndrome associated with physiological disturbance and physical factors
Hypophonia
Neuronopathy, Distal Hereditary Motor, Type Viib
Vertical supranuclear gaze palsy
Abnormal lower motor neuron morphology
PNEUMOTHORAX, PRIMARY SPONTANEOUS
Short stepped shuffling gait
Subependymal Glioma
Laminar heterotopia
Lissencephaly and agenesis of corpus callosum
SUBCORTICAL BAND HETEROTOPIA, X-LINKED
Subcortical Band Heterotopia
Abnormal cortical gyration
Classical Lissencephalies and Subcortical Band Heterotopias
Double cortex
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Facial Neoplasms
Basal cell nevus
Defective DNA repair after ultraviolet radiation damage
Nasal obstruction present finding
Aromatic amino acid decarboxylase deficiency
Deficiency of aromatic-L-amino-acid decarboxylase
Temperature instability
Body temperature instability
Circling behavior
Congenital Hyperinsulinism
Decreased CSF homovanillic acid
Hermaphroditism
Neoplasms, Hormone-Dependent
Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta without osteogenesis imperfecta
Lupus Flare
Lipomatous neoplasm
Dyggve-Melchior-Clausen syndrome
Recurrent ear infections
Type I transferrin isoform profile
Congenital disorder of glycosylation type 1r
Oromotor apraxia
Neurodevelopmental delay
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
Polymorphous low grade adenocarcinoma
MENTAL RETARDATION, X-LINKED 102
Lymphogranuloma Venereum
Roberts-SC phocomelia syndrome
Small face
Hypoplasia of the cochlea
Lipid Metabolism, Inborn Errors
Drug-induced neutropenia
Myeloperoxidase Deficiency
Hyperphenylalaninemia, Non-Phenylketonuric
Infection pyogenic
Myocardial necrosis
2,4-Dienoyl-CoA Reductase Deficiency
Hemoglobin M Disease
Paraneoplastic Encephalomyelitis
Acute appendicitis NOS (disorder)
Postoperative endophthalmitis
Tinea corporis (disorder)
Vaginal Diseases
Candidiasis of the esophagus
Myofibromatosis
Desmoplastic Small Round Cell Tumor
Right ventricular dilatation
Infantile myofibromatosis
Peroneal muscle atrophy
Sclerosing Epithelioid Fibrosarcoma
Restrictive heart failure
CARDIOMYOPATHY, DILATED, 1S
Hyporeflexia of lower limbs
Scapuloperoneal weakness
GIANT AXONAL NEUROPATHY 1
CARDIOMYOPATHY, DILATED, 1I
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R
Reduced systolic function
Complement Factor D Deficiency
Abnormal posture
Woodhouse Sakati syndrome
Visual disturbance
Focal Dystonia
Jensen syndrome
Infantile sensorineural hearing impairment
Postlingual sensorineural hearing impairment
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)
Auditory neuropathy
Auditory neuropathy spectrum disorder
Labyrinthine disorder
Dominant sensorineural hearing loss
Diseases of inner ear
Deafness, Autosomal Dominant 9
Cochlear degeneration
Autoimmune sensorineural hearing loss
Usher syndrome, type 1F
Abnormality of the vestibulocochlear nerve
Kenny-Caffey syndrome
Cervical aortic arch
Emanuel syndrome
Supernumerary der(22)t(8;22) syndrome
Mitochondrial hepatopathy
Decreased activities of mitochondrial-encoded respiratory chain complexes
Periportal fibrosis
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
Decreased activity of mitochondrial respiratory complexes
Deoxyguanosine Kinase Deficiency
Decreased activity of mitochondrial respiratory chain
Depletion of mitochondrial DNA in liver
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
PORTAL HYPERTENSION, NONCIRRHOTIC
Tracheal Stenosis
Holoprosencephaly
Bicornuate uterus
Septate vagina
Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type II
Subluxation of hip joint
Obstruction of pelviureteric junction
Overriding toe
Lathosterolosis
Periventricular gray matter heterotopia
Elevated 7-dehydrocholesterol
Severe photosensitivity
Broad alveolar ridges
Facial capillary hemangioma
Proximal placement of thumb
Desmosterolosis
Postaxial foot polydactyly
7-Dehydrocholesterol Reductase Deficiency
Aplasia/Hypoplasia of the cerebellum
Head circumference small for gestational age
Fibular polydactyly
Broad alveolar processes of jaw
Q Fever
Malignant neoplasm of ureteric orifice
Chondrodysplasia punctata, X-linked dominant type
Acute Q fever
Chronic Q Fever
Coxiella burnetii Infection
Anemia, Megaloblastic
Deficiency of dihydrofolate reductase
Pneumonia associated with AIDS
Myoclonus, Eyelid
Postnatal microcephaly
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Freeman-Sheldon syndrome
Genee-Wiedemann syndrome
Supernumerary vertebra
Chromosome 11p deletion syndrome
Midgut malrotation
Non-midline cleft lip
Methemoglobinemia, Type Ii
Nadh-Cytochrome B5 Reductase Deficiency, Type I
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii
Leukemia, Monocytic, Chronic
Carcinoma of anal canal
Solitary Pulmonary Nodule
Severe Bronchopulmonary Dysplasia
Low frequency deafness
Progressive hearing impairment
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME
Premature Ovarian Failure 2a
Euthyroid Sick Syndromes
Thyroxine measurement
Thyrotoxicosis
Uniparental disomy, paternal, chromosome 14
Urethral Stricture
Horseshoe Kidney
Longitudinal split nail
Taurodontism
Congenital phimosis
Pterygium of nail
X-Linked Dyskeratosis Congenita
Leukokeratosis
NIEMANN-PICK DISEASE, TYPE C2
Aplastic/hypoplastic toenail
Inherited bone marrow failure syndrome
Reticulated skin pigmentation
Reticular pigmentation pattern
Anorectal Malformations
GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA
Rough bone trabeculation
Generalized hypopigmentation of hair
Abnormality of female internal genitalia
Large elongated pulp chamber
Pyruvate Dehydrogenase Complex Deficiency Disease
liver disease parenchymal
Decreased activity of the pyruvate dehydrogenase complex
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements
Autoimmune cholangitis
Congenital immunodeficiency disease
Congenital disorder of glycosylation, type 2C
Colon Neuroendocrine Tumor G1
Leukocyte Adhesion Deficiency, Type III
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Increased urine alpha-ketoglutarate concentration
Congenital hydronephrosis
Chromosome 3q29 Deletion Syndrome
Atkin syndrome
MENTAL RETARDATION, X-LINKED 2 (disorder)
Mental Retardation, X-Linked 9
MENTAL RETARDATION, X-LINKED 14
MENTAL RETARDATION, X-LINKED 18
Mental Retardation, X-Linked 19
MENTAL RETARDATION, X-LINKED 20
MENTAL RETARDATION, X-LINKED 23
Mental Retardation, X-Linked 30
MENTAL RETARDATION, X-LINKED 34 (disorder)
Mental Retardation, X-Linked 47
MENTAL RETARDATION, X-LINKED 89
MENTAL RETARDATION, X-LINKED 91 (disorder)
Mental Retardation, X-Linked 92
MENTAL RETARDATION, X-LINKED 78
MENTAL RETARDATION, X-LINKED 82
MENTAL RETARDATION, X-LINKED 84
Mental Retardation, X-Linked 45
MENTAL RETARDATION, X-LINKED 77
Mental Retardation, X-Linked 46
MENTAL RETARDATION, X-LINKED 81
Mental Retardation, X-Linked 63
MENTAL RETARDATION, X-LINKED 42
MENTAL RETARDATION, X-LINKED 73
Creatine deficiency, X-linked
MENTAL RETARDATION, X-LINKED 53
MENTAL RETARDATION, X-LINKED 72
Mental Retardation, X-Linked 58
MENTAL RETARDATION, X-LINKED 50
MENTAL RETARDATION, X-LINKED 93 (disorder)
MENTAL RETARDATION, X-LINKED 95
Mental Retardation, X-Linked, Znf711-Related
MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 90 (disorder)
MENTAL RETARDATION, X-LINKED 88 (disorder)
MENTAL RETARDATION, X-LINKED 98
MENTAL RETARDATION, X-LINKED 99
MENTAL RETARDATION, X-LINKED 41
MENTAL RETARDATION, X-LINKED 100
RETINAL CONE DYSTROPHY 1
Hypoplasia of iris
Axenfeld-Rieger syndrome
AL-RAQAD SYNDROME
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
Amelogenesis Imperfecta, Type IV
Abnormality of the mastoid
Grandiose delusions
Bilateral cleft lip
Sparse eyebrow
Palate fistula
High anterior hairline
Bilateral cleft palate
Agenesis of lateral incisor
Hyponasal speech
OROFACIAL CLEFT 15
Absence of lateral incisor
Hole in roof of mouth
Congenital Foot Deformity
Split foot
Prieto X-linked mental retardation syndrome
Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Auriculo-condylar syndrome
Oligodactyly
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
Gigantism
Muscular Dystrophy, Animal
Tabes Dorsalis
Blood group deletion syndrome
X-linked muscular dystrophy with abnormal dystrophin
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Myopathy with Abnormal Lipid Metabolism
Severe childhood autosomal recessive muscular dystrophy
Benign congenital myopathy
Proximal weakness
Cardiac ventricular thrombosis
Absence of muscle
Cerebral seizure
Cardiomyopathy associated with another disorder
Calf muscle pseudohypertrophy
Limb-girdle muscular dystrophy, type 2E
Beta-sarcoglycanopathy
Thyroid Hormone Resistance Syndrome
Dmd-Associated Dilated Cardiomyopathy
Isodicentric Chromosome 15 Syndrome
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
INTERMEDIATE MUSCULAR DYSTROPHY
Carotid Body Paraganglioma
Mucosal ulcer
Sarcosinemia
Paraganglioma of head and neck
Hereditary Paraganglioma
Mitochondrial Complex II Deficiency
Carney Triad
Osteitis
Oral pain
Abnormality of the sacroiliac joint
Autosomal recessive hypophosphatemic vitamin D refractory rickets
Dental abscess
Rickets of the lower limbs
Elevated alkaline phosphatase of bone origin
Distal femoral bowing
Hypophosphatemic Rickets, Autosomal Recessive, 2
Abnormal trabecular bone morphology
Pseudo-fractures
Low serum calcitriol
Abnormality of renal excretion
Renal hypophosphatemia
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
First degree atrioventricular block
Charcot-Marie-Tooth disease, X-linked, 1
3-Methylglutaconic aciduria type 3
Myotonic Phenomenon
Percussion Myotonia
Syncope, Cardiogenic
Obsessive-compulsive trait
Frontal balding
Spermatocytic seminoma
Tumor of Rete Testis
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
Anemia, Hypochromic Microcytic, With Iron Overload
Ovotesticular Disorders of Sex Development
46,XY Sex Reversal 4
HFE-Associated Hereditary Hemochromatosis
Iron deficiency anemia in children
Ectopic kidney
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6
Hyperdistention
Congenital atresia of nasopharynx
Other specified congenital malformations of respiratory system
CILIARY DYSKINESIA, PRIMARY, 3
CILIARY DYSKINESIA, PRIMARY, 23
Polynesian Bronchiectasis
Diseases of mitral valve
Wrinkly skin syndrome
Maternally Inherited Leigh Syndrome
Parakeratosis
Episcleritis
Hallucinogen Persisting Perception Disorder
Hypocomplementemic urticarial vasculitis
Juvenile Spinal Muscular Atrophy
Chronic non-A non-B hepatitis
Plagiocephaly
Muscular Atrophy, Spinal, Type II
Distal Spinal Muscular Atrophy
Motor Neuron Disease, Upper
Difficulty running
Spinal Muscular Atrophies of Childhood
Acquired Toxoplasmosis
Plagiocephaly, Nonsynostotic
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Distal lower limb muscle weakness
Proximal lower limb amyotrophy
Muscular atrophy, spinal, infantile chronic form
Inherited Peripheral Neuropathy
Decreased patellar reflex
Type 2 muscle fiber predominance
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
Asymmetry of the posterior cranium
Rhomboid shaped head
Flattening of head
Flattening of cranial vault
Flat head
Congenital contracture
Keratoderma, Palmoplantar, Epidermolytic
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
Axonal degeneration
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Segmental peripheral demyelination/remyelination
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
LETHAL CONGENITAL CONTRACTURE SYNDROME 5
Sleepy facial expression
Choline Deficiency
HSAN Type IV
Hereditary Sensory Autonomic Neuropathy, Type 5
Transposition of Great Vessels
Hereditary Sensory Radicular Neuropathy
Giant cell carcinoma of lung
Sensory Neuropathy, Hereditary
Primitive reflexes (palmomental, snout, glabellar)
Cerebellar Ataxia, Deafness, and Narcolepsy
Childhood Myelodysplastic Syndrome
Hereditary Sensory and Autonomic Neuropathy Type Ie
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
Autosomal dominant cerebellar ataxia
TATTON-BROWN-RAHMAN SYNDROME
Communicating Hydrocephalus
Muscular Dystrophy, Scapulohumeral
Other specified immunodeficiencies
IMMUNODEFICIENCY 40
Stuttering
Skin dimple
Congenital disorder of glycosylation type 1J
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36
MYASTHENIC SYNDROME, CONGENITAL, 13
Cranioectodermal Dysplasia
3C syndrome
Hydrocephalus Adverse Event
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
Adenomatoid Tumor
Alternating esotropia
Microcephaly autosomal dominant
Ligament rupture
Neuroleptic-Induced Tardive Dyskinesia
Ventricular Fibrillation, Paroxysmal Familial, 2
VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33
Language Development Disorders
Purine-Pyrimidine Metabolism, Inborn Errors
Poisoning by fluorouracil
recurrent gastric cancer
Depressive personality disorder
Semantic-Pragmatic Disorder
Auditory Processing Disorder, Central
Gastrooesophageal cancer
Long ear
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal eating behavior
Reduced dihydropyrimidine dehydrogenase activity
1p21.3 microdeletion syndrome
Dihydropyrimidinase deficiency
Extrapyramidal dyskinesia
Pyramidal tract disease
Morphological abnormality of the pyramidal tract
Delusional disorder
Spermatocele
Reading Disabilities
Adrenal Cortex Diseases
Cluster A personality disorder
Kleptomania
Memory, Short-Term
Schizoid Personality Disorder
Ritual compulsion
opioid use
Duration of sleep
Acquired Language Disorders
Sexual Dysfunction
Processing speed
Opium addiction
Childhood aggression
Spinal cord myoclonus
Limb myoclonus
Obsessive-Compulsive Personality
Gambling
TREMOR, HEREDITARY ESSENTIAL, 1
Child Development Disorders, Pervasive
Chronic Motor or Vocal Tic Disorder
Dependent Personality Disorder
Tic disorder
Transient Tic Disorder
Attention Deficit and Disruptive Behavior Disorders
Expressed Emotion
Tic Disorders, Vocal
RISK-TAKING BEHAVIOR
Childhood Tic Disorders
Motor Tic Disorders
Post-Traumatic Tic Disorder
NOVELTY SEEKING PERSONALITY TRAIT
Oppositional Behavior
Attention deficit hyperactivity disorder, combined type
AUTONOMIC NERVOUS SYSTEM DYSFUNCTION
Torticollis, Psychogenic
Torticollis, Intermittent
Benign essential blepharospasm
Chondritis
Polychondritis, Relapsing
Salivary Gland Diseases
Dacryoadenitis
Asherman Syndrome
Polychondritis
Pelvic pain female
Central nervous system leukaemia
Atrophy of the dentate nucleus
Benign adult familial myoclonic epilepsy
Subcorneal pustular dermatosis
IgA pemphigus
Symphysis Pubis Dysfunction
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy
Hypotrichosis And Recurrent Skin Vesicles
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR
Arm span
Bullous impetigo
Keratoderma
Staphylococcal Scalded Skin Syndrome
Nikolsky sign
Multiple allergies
Keratosis palmoplantaris striata 1
ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
Diffuse palmoplantar hyperkeratosis
Streaks of hyperkeratosis along each finger onto the palm
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Cardiomyopathy, Dilated, 1BB
Epidemic keratoconjunctivitis
Natal Teeth
Mononeuritis Multiplex
Familial cardiomyopathy
Dilatation of aorta
Sensory polyneuropathy
Other cardiomyopathies
Hay-Wells syndrome
Neonatal Death
Diffuse infiltrative lymphocytosis syndrome
Naxos disease
Skin Fragility-Woolly Hair Syndrome
Palmoplantar keratosis with erythema and scale
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
KERATOSIS PALMOPLANTARIS STRIATA II
Cardiomyopathy dilated with Woolly hair and keratoderma
Ectodermal dysplasia/ skin fragility syndrome
Epidermolysis bullosa, lethal acantholytic
Ventricular Fibrillation Adverse Event
Tapered distal phalanges of finger
Widely spaced toes
continuous electrocardiogram ventricular tachycardia
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
Patchy palmoplantar keratoderma
Oligodontia
CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS
Radicular Cyst
Hereditary Opalescent Dentin (disorder)
Dentin dyspalsia, Shields type 2
Dental Pulp Stone
Dental Diseases
Periapical bone loss
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Hearing loss, sensorineural (high frequency)
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
Dentinogenesis imperfecta limited to primary teeth
Opalescent dentin
True denticles
False denticles
Bone loss around tooth root
Ear Diseases
Acquired clubfoot
Hitch-hiker thumb
Cervical kyphosis
Absent or minimally ossified vertebral bodies
Hypoplastic cervical vertebrae
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
Atelosteogenesis type 2
De La Chapelle Dysplasia
Horizontal sacrum
Glabellar hemangioma
Costal cartilage calcification
Hypoplasia of the femoral head
Limited elbow flexion
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
Hypertrophic auricular cartilage
Short sacroiliac notch
Laryngotracheal stenosis
Abnormality of the patella
Cystic lesions of the pinnae
Dumbbell-shaped femur
NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1
Adult Oligodendroglioma
Childhood Oligodendroglioma
Oligodendroblastoma
Mixed Oligodendroglioma-Ependymoma
Hashimoto's encephalitis
Cartilage-hair hypoplasia
Congenital hypoplasia of breast
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA
Increased female libido
Hypothalamic gonadotropin-releasing hormone deficiency
Anterior hypopituitarism
Abnormality of body height
Pseudorabies
Skin Pigmentation
Skin pigmentation - finding
Ventricular Outflow Obstruction, Right
Bifid tongue
Accessory kidney
Short palate
Duplication of the distal phalanx of hand
Broad toe
Curly eyelashes
Median cleft lip and palate
Hypoplastic palate
Bifid distal phalanx of toe
Short hard palate
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Cleft tongue
Transposition of the Great Arteries, Dextro-Looped 1
Dextrotransposition of aorta
Hypoplasia of right heart
Congenital atresia of pulmonary artery
Right hypoplastic heart syndrome
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
physical symptom
Absent or delayed speech development
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
Meige Syndrome
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Adult-Onset Idiopathic Focal Dystonias
Adult-Onset Idiopathic Torsion Dystonias
Autosomal Dominant Familial Dystonia
Autosomal Recessive Familial Dystonia
Childhood Onset Dystonias
Dystonia, Secondary
Dystonias, Sporadic
Pseudodystonia
Motor Manifestations
Dystonia 6, torsion (disorder)
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Dystonia, Focal, Task-Specific
Segmental dystonia
Musician's Dystonia
Familial torsion dystonia
Torticollis, familial
Writer's Cramp
Well-differentiated papillary mesothelioma
Peritoneal Mesothelioma
stage, bladder cancer
Aganglionosis, Colonic
Segmental Autonomic Dysfunction
Overcurvature of nail
Peripheral Autonomic Nervous System Diseases
Nervous System Diseases, Parasympathetic
Nervous System Diseases, Sympathetic
Aganglionosis, Rectosigmoid Colon
Contractures of the interphalangeal joint of the thumb
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Congenital Intestinal Aganglionosis
Carcinoma, Basosquamous
Polyneuropathy, Motor
Congenital dysmotility of small intestine
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
Decreased number of large peripheral myelinated nerve fibers
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related
Mngie Without Leukoencephalopathy
Mitochondrial DNA Depletion Syndrome 8A
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Abnormality of the mitochondrion
Abnormality of the extraocular muscles
Atrophic muscularis propria
Autonomic visceral myopathy
Degenerative enteric myopathy
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
Lipoid Proteinosis of Urbach and Wiethe
Scar Tissue
Tongue nodules
Malattia Leventinese
Patchy alopecia
Warts
Abnormality of the gingiva
Bilateral intracranial calcifications
recurrent muscle twitches (symptom)
Koilonychia
Intolerant of heat
Developmental absence of tooth
Absent nipple (finding)
Anhydrotic Ectodermal Dysplasias
Chromosome 11p11.2 Deletion Syndrome
Periorbital hyperpigmentation
Hypoplastic-absent sebaceous glands
Aplasia/Hypoplastia of the eccrine sweat glands
Tooth Agenesis, Selective, X-Linked, 1
Protruding upper lip
Abnormality of oral mucosa
Everted upper lip vermilion
Drooping upper lip
Missing more than six teeth
Retinal ischemia
Olfaction Disorders
Sense of smell altered
Ligamentum flavum hypertrophy
Elephantiasis
Endemic goiter
Hepatorenal Syndrome
Lentigo
Marginal ulcer
Sturge-Weber Syndrome
Uterovaginal prolapse
Cerebrovascular Insufficiency
Human herpesvirus 8 infection
Intestinal necrosis
Systemic sclerosis [scleroderma]
QUESTION MARK EARS, ISOLATED
Diabetic Heart Disease
AURICULOCONDYLAR SYNDROME 3
Question mark ear
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
White forelock
Short segment Hirschsprung's disease
blue iris (physical finding)
White eyelashes
White eyebrow
WAARDENBURG SYNDROME, TYPE 4A
Olfactory lobe agenesis
Waardenburg Syndrome Type 2
Waardenburg Syndrome, Type 4b
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
Grey eyelashes
Grey eyebrow
Blonde eyebrow
Abnormal macular morphology
Primary Raynaud Phenomenon
Upper Airway Resistance Sleep Apnea Syndrome
Limited jaw opening
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Limited jaw mobility
Decrease in jaw opening
Neuronal intestinal dysplasia
ABCD syndrome
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
Staphylococcal toxic shock syndrome
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
Lacrimoauriculodentodigital syndrome
Congenital duodenal obstruction due to malrotation of intestine
Rudiger syndrome 1
ADULT SYNDROME
Autoimmune necrotizing myopathy
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
SPINOCEREBELLAR ATAXIA 26
Impaired horizontal smooth pursuit
Adenoma of rectum
Congenital abnormal Synostosis
Hypertrichosis, universal
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE (disorder)
Hippocampal atrophy
Periosteal Disorder
Bipartite clavicle
Pseudoarthrosis of clavicle
Unilateral breast hypoplasia
Hypoplastic nasal tip
Hemihypotrophy of lower limb
Ridged fingernail
Coronal craniosynostosis
Broad hallux phalanx
Midline defect of the nose
Hypotrophic nasal tip
Aplasia of nasal tip
Central cleft of nose
Maxillary Neoplasms
Trophoblastic Neoplasms
Middle Ear Cholesteatoma
Donohue Syndrome
Perinatal disorder
Laron Syndrome
Papillary transitional cell carcinoma
Troyer syndrome
Juvenile aponeurotic fibroma
Chromosome 7, trisomy 7p
Metastatic Endometrial Carcinoma
Chondroid Hamartoma
Hyperactive deep tendon reflexes
Moderate global developmental delay
Hypomagnesemia 4, Renal
Axenfeld-Rieger Syndrome, Type 1
Neural Glioblastoma
Familial primary hypomagnesemia with normocalciuria and normocalcemia
Neuronal heterotopia
Orofaciodigital syndrome 3
Bladder Exstrophy
Radial polydactyly
Acrocephalopolysyndactyly type 2
Cloverleaf skull
Aplasia of the middle phalanx of the hand
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly
CARPENTER SYNDROME 2
Cutaneous finger syndactyly
Cloverleaf cranium shape
Papillary adenocarcinoma
Dermoid Cyst
Ear Neoplasms
Erythroplasia
Peripheral Nervous System Neoplasms
Pleural Neoplasms
Staphylococcal Pneumonia
Pneumoperitoneum
Adult Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma
Bone lesion
Squamous Papilloma of the Larynx
Greig cephalopolysyndactyly syndrome
Anal cancer recurrent
Cervical carcinoma stage IIB
Small cell lung cancer extensive stage
Recurrent Endometrial Cancer
Thymoma malignant invasive
Melanoma recurrent
stage, pancreatic cancer
Uterine Carcinosarcoma
Combined small cell carcinoma
Schneiderian papilloma
Clear cell sarcoma of kidney
Malignant phyllodes tumor of breast
Cervical Adenosquamous Carcinoma
Dysplastic oral leukoplakia
Fibrosis of bile duct
Cerebral metastasis
Biliary carcinoma
cervical cancer metastasis
Adenocarcinoma of lung, stage III
Recurrent Lung Carcinoma Cell Type Unspecified
Stage IV Lung Cancer AJCC v7
Recurrent lung cancer
Lung cancer stage I
Adenocarcinoma with neuroendocrine differentiation
Multiple basal cell papillomata
Disorder of skull
Asthmatic bronchitis
Calcifying Fibrous Pseudotumor
Esophageal Basaloid Carcinoma
Invasive Apocrine Breast Carcinoma
Mucoepidermoid carcinoma of parotid gland
Recurrent Head and Neck Carcinoma
Squamous Lung Dysplasia
Supratentorial Glioblastoma
Pineal parenchymal tumor of intermediate differentiation
Mature Teratoma
Testicular Intratubular Germ Cell Neoplasia, Unclassified
Eccrine Poroma
Uterine Corpus Carcinosarcoma
Intimal sarcoma
mucoepidermoid carcinoma of lung
carcinosarcoma of lung
Other stomatitis and mucositis (ulcerative)
Ankyloblepharon filiforme adnatum and cleft palate
Epidermal growth factor receptor positive non-small cell lung cancer
Merkel Cell Polyomavirus Infection
Primary mucoepidermoid carcinoma of lung
Primary adenocarcinoma of lung
Recurrent Childhood Glioblastoma
Non-Metastatic Childhood Soft Tissue Sarcoma
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
Recurrent bronchiolitis
Fibromatosis, Palmar
Recurrent Glioblastoma
Squamous non-small cell lung cancer
Afibrinogenemia
Postoperative peritoneal adhesions
Hereditary, Type VII, Motor and Sensory Neuropathy
Spinal ataxia
Congenital hypomyelinating neuropathy
myelinopathy
Muscle weakness of upper limb
Hypertrophic nerve changes
Charcot-Marie-Tooth disease, Type 1D (disorder)
Abnormality of the cranial nerves
NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT
NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL RECESSIVE
DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT
Cranial nerve abnormality
Peripheral hypomyelination
Ulnar claw
Congenital scoliosis
Incomplete spermatogenic arrest
Bifunctional peroxisomal enzyme deficiency
FANCONI RENOTUBULAR SYNDROME 3
Wolcott-Rallison syndrome
OVARIOLEUKODYSTROPHY
Decreased circulating progesterone
Vanishing white matter disease
Cessation of head growth
Spastic tetraparesis
MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)
Long lower third of face
Tall chin
Cleft lip or lips
Stage IV Pancreatic Cancer
CATARACT, POSTERIOR POLAR, 1
Age-related cortical cataract
Mature cataract
Rift Valley Fever
Cardiovirus Infections
Fahr's syndrome (disorder)
PARKINSON DISEASE 18
Autosomal dominant late onset Parkinson disease
Suppurative Periapical Periodontitis
Relapsing Fever
Increased antibody level in blood
Immune neutropenia
Escherichia coli septicemia
Globulin gamma serum plasma increased result
Ligneous conjunctivitis
Hyperglobulinemia
Neutropenia, Severe Congenital, Autosomal Dominant 1
Plasminogen Deficiency, Type I
Elevated immunoglobulin levels
Cyclic Hematopoesis
Recurrent fevers
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
Gangliosidosis GM1
Intestinal epithelial dysplasia
Mesothelioma, Cystic
Pseudohypoaldosteronism, Type I
Chylothorax, congenital
Fenestration (morphologic abnormality)
Osteopoikilosis (disorder)
Hyperacusis
Skin Wrinkling
Pelvic kidney
Dysgraphia
Dermatofibrosis lenticularis disseminata
Cutis Laxa, Autosomal Dominant
Striae gravidarum
Cutis laxa, acquired type
Sacral dimples
Dissection of proximal aorta
Skin symptom
Schimke immunoosseous dysplasia
Congenital supravalvular aortic stenosis
Medial flaring of the eyebrow
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
Dural ectasia
Periorbital fullness
COPD, Severe Early-Onset
Constrictive Bronchiolitis
CUTIS LAXA, AUTOSOMAL DOMINANT 1
Abnormality of digit
Postaxial polydactyly type A
Overfriendliness
Impaired visuospatial constructive cognition
Nystagmus-induced head nodding
Hepatoportal sclerosis
Other congenital anomalies of nervous system
Band Heterotopia of Brain
BAND HETEROTOPIA
Atrial arrhythmia
Sustained ventricular tachycardia
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
Decreased cervical spine flexion due to contractures of posterior cervical muscles
Muscular dystrophy, tardive Emery-Dreifuss type, with contractures
Type 1 muscle fiber atrophy
Primary atrial arrhythmia
Inability to touch chin to chest
Pseudohypoaldosteronism, Type II
Bacteriuria
Infection by Pneumocystis jirovecii (disorder)
NEPHROTIC SYNDROME, TYPE 10
Uterus bilocularis
Aneurysm of celiac artery
High-output congestive heart failure
Venous varicosities of celiac and mesenteric vessels
Mesenteric artery aneurysm
HEREDITARY HEMORRHAGIC TELANGIECTASIA 1
Dilatation of mesenteric artery
Dilatation of celiac artery
Intestinal Volvulus
Autoimmune Hypophysitis
Segmental vitiligo
Abdominal Neoplasms
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
Congenital stenosis of aortic valve
Rheumatic aortic stenosis
Increased muscle glycogen content
Glycogen Storage Disease XIII
Alcohol Withdrawal-Induced Major Motor Seizure
Status Epilepticus, Alcohol Withdrawal-Induced
Pancreatic carcinoma non-resectable
Deep overbite
Posterior lingual occlusion of mandibular teeth
Overbite
Gestosis
RUBINSTEIN-TAYBI SYNDROME 2
Altitude Sickness
Somatostatinoma
Benign neoplasm of adrenal gland
Benign neoplasm of aortic body and other paraganglia
Hematocrit increased
Chronic mountain sickness
recurrent pheochromocytoma
Malignant Adrenal Medulla Neoplasm
Malignant neoplasm of aortic body and other paraganglia
Hemoglobin increased
Pancreatic Somatostatinoma
Erythrocytosis, Familial, 4
Altitude Hypoxia
Elliptocytosis found
Elliptocytosis 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
Alpha trait thalassemia
Spherocytosis, Type 5
stomatocytic anemia
Stomatocytosis Result
Increased red cell osmotic fragility
Increased intracellular sodium
D-2-hydroxyglutaric aciduria
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
Combined D-2- and L-2-hydroxyglutaric aciduria
Ureterocele
Macrophage Colony Stimulating Factor Measurement
Interferon Gamma Measurement
Maculopapular eruption
Colorectal Neuroendocrine Tumor
MYOPATHY, MYOFIBRILLAR, 7
Sotos' syndrome
Myxopapillary ependymoma
Papillary ependymoma
Acute panmyelosis with myelofibrosis
Kabuki make-up syndrome
Cellular Ependymoma
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
lung sarcoma
HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO
Bulla of lung
Diabetic keratopathy
Enteritis due to specified virus
Uremia syndrome
Loose stool
Anemia, Hemolytic, Acquired
Anemia, Microangiopathic
Sarcoma, Experimental
Sarcoma, Jensen
Shock, Cardiogenic
Deficiency anemias
Lassitude
Anemia of prematurity
Microangiopathic hemolytic anemia
Anemia of chronic renal failure
Polyneuropathy, Critical Illness
Anemia of renal disease
Heterozygous hemoglobinopathy
Inguinal lymphadenopathy
Waldenstrom's disease
Polyneuropathy, Familial
Acquired Polyneuropathy
Bone marrow dysplasia
Familial polycythemia vera
Cerebellar hemangioblastoma
Treatment-Induced Anemia
Neonatal necrotizing enterocolitis
Anemia in chronic kidney disease
Endolymphatic sac tumor
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
Anemia in malignant neoplastic disease
Granulocytic hyperplasia
DEAFNESS, AUTOSOMAL RECESSIVE 102
Profound hearing impairment
Cystadenocarcinoma
Paget's Disease, Mammary
Other lesions of median nerve
Renal Pelvis Urothelial Carcinoma
Congenital duplication of intestine
Stage IIIA Breast Carcinoma
Esophageal neoplasm metastatic
Endometrial neoplasm malignant stage I
intestinal adenocarcinoma of the stomach
Adenosis
Inflammatory carcinoma
Epithelial tumor of ovary
Secondary malignant neoplasm of bone marrow
Chondrogenic Neoplasm
Ewing's sarcoma of bone
Secondary malignant neoplasm of axilla
colon (non-specific) lesion
Paraneoplastic Cerebellar Degeneration, Anti-Yo-Associated
Stage IV Esophageal Adenocarcinoma
Breast Apocrine Adenosis
Apocrine breast carcinoma
Tubular adenocarcinoma gastric
Still's disease with juvenile onset and/or adult onset
Prostate Basal Cell Carcinoma
Hormone receptor positive tumor
Paget's Disease of the Nipple
Glioma of Brain, Familial
Retroperitoneal Leiomyosarcoma
GLIOMA SUSCEPTIBILITY 1
Pleomorphic lobular carcinoma in situ
Cerebellar degeneration, subacute
Gastric Neuroendocrine Carcinoma
Ectomesenchymal Chondromyxoid Tumor
Childhood Alveolar Rhabdomyosarcoma
Secondary malignant neoplasm of omentum
Lethal Congenital Contracture Syndrome 2
LETHAL CONGENITAL CONTRACTURE SYNDROME 1
Early myoclonic encephalopathy
Radiculopathy
AMYOTROPHIC LATERAL SCLEROSIS 19
Non-small cell lung cancer stage IIIA
Flexion contracture of toe
Bilateral microphthalmos
CEREBROOCULOFACIOSKELETAL SYNDROME 4
CAMFAK syndrome
Thyroid Hormone Metabolism, Abnormal
XFE Progeroid Syndrome
Pena Shokeir syndrome Type 2
Abnormality of immune system physiology
Abnormally small eyeball on both sides
Bilateral nanophthalmos
Sunburn
Xeroderma pigmentosum, group B
Cerebrooculofacioskeletal Syndrome 2
Photosensitive Trichothiodystrophy
Ichthyosis, Congenital, with Trichothiodystrophy
Numerous pigmented freckles
Lack of subcutaneous fatty tissue
Metachromatic leukodystrophy variant
Hardened artery wall
Periungual fibroma
Branchio-Oto-Renal Syndrome
Deafness, Autosomal Dominant 10
Cardiomyopathy, Dilated, 1J
Abnormal cardiac ventricular function
Xeroderma Pigmentosum B-Cockayne Syndrome
Abnormal CNS myelination
Tiger tail banding
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
Thumb aplasia
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
FANCONI ANEMIA, COMPLEMENTATION GROUP Q
Abnormality of the corpus callosum
Cerebrooculofacioskeletal Syndrome 3
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
Gonadal hypoplasia
De Sanctis-Cacchione syndrome
Subcortical white matter calcifications
Cerebellar calcifications
Severe failure to thrive
Deep longitudinal plantar crease
Second metatarsal posteriorly placed
MACULAR DEGENERATION, AGE-RELATED, 5
Pigmentation anomalies of sun-exposed skin
Abnormal peripheral myelination
Foot crease
PREMATURE OVARIAN FAILURE 11
Bronchomalacia
Chiari malformation type II
Arnold-Chiari Malformation, Type III
Arnold-Chiari Malformation, Type IV
CRANIOSYNOSTOSIS 4
Complex craniosynostosis
Posterior plagiocephaly
Multiple suture craniosynostosis
CHITAYAT SYNDROME
Eye Diseases, Hereditary
Neoplastic Processes
Fundus Albipunctatus
Metastatic small cell carcinoma
Serum iron measurement
Henipavirus Infections
Sporadic Retinoblastoma
Retinoblastoma bilateral
Retinoblastoma unilateral
Dyspareunia (female)
Feminization
Gingivosis
Carcinoma in situ of prostate
Immature teratoma of ovary
Carcinoid tumor, malignant
MALE GENITAL ABNORMALITIES
Gender Dysphoria
Atypical carcinoid tumor
Benign cystic nephroma
Adenoid cystic breast carcinoma
Ovarian Transitional Cell Carcinoma
Papillary urothelial carcinoma
Sclerosing hemangioma
Total Hypotrichosis, Mari type
Marked delay in bone age
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
Elevated tissue non-specific alkaline phosphatase
Lithiasis
De Quervain Disease
Impatience
DEAFNESS, AUTOSOMAL RECESSIVE 35
Autosomal dominant compelling helio ophthalmic outburst syndrome
Glutaric aciduria
Abnormality of the reproductive system
Hepatic periportal necrosis
Abnormality of the genital system
Glutaric Aciduria IIA
Glutaric Aciduria IIB
Glutaric Aciduria IIC
GLUTARIC ACIDEMIA IIA
GLUTARIC ACIDEMIA IIB
GLUTARIC ACIDEMIA IIC
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Glutaric acidemia
Defective dehydrogenation of isovaleryl CoA and butyryl CoA
Metabolic symptoms
COENZYME Q10 DEFICIENCY
GLUTARIC ACIDEMIA IIC, LATE-ONSET
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
Alzheimer disease type 1
Disorder of ejaculation
Abnormal male sexual function
Male sexual dysfunction
Bacteroides Infections
Spindle Cell Oncocytoma of the Adenohypophysis
Mesoblastic Nephroma
Rhabdomyosarcoma with ganglionic differentiation
Mesoblastic nephroma, cellular
Macrocytosis, Familial
Somatotrophinoma, Familial
THROMBOCYTOPENIA 5
Non-intestinal type adenocarcinoma
Ellis-Van Creveld Syndrome
Majewski Syndrome
Premature tooth eruption
Alveolar ridge abnormality
Common atrium
Weyers acrofacial dysostosis
Epispadias, male (disorder)
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
Prominent antihelix
Conical incisor
Cone-shaped epiphyses of phalanges 2 to 5
Toenail dysplasia
Pointed incisor
Abnormality of the antihelix
Pointed front tooth
Peg shaped front tooth
Abnormality of alveolar processes of jaw
Blood urea nitrogen measurement
Magnesium measurement
Limited pronation/supination of forearm
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
Adenoma, Sweat Gland
Eccrine acrospiroma
Small cell osteosarcoma
Spongioblastoma
Medulloepithelioma
Benign neoplasm of sweat gland
Ependymoblastoma
Cerebral Primitive Neuroectodermal Tumor
Haemangioma of bone
Benign vascular neoplasm
Abnormality of the peritoneum
Clear cell odontogenic carcinoma
Madelung Deformity
Renal Failure, Progressive, with Hypertension
Metachondromatosis
Dysplasia epiphysealis hemimelica
Posttransfusion viral hepatitis
Secondary Chondrosarcoma
Rib exostoses
Multiple long-bone exostoses
EXOSTOSES, MULTIPLE, TYPE II
Peripheral nerve compression
Scapular exostoses
Protuberances at ends of long bones
Madelung-like forearm deformities
Abnormality of the humerus
Abnormality of femur morphology
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
Multiple osteochondroma of long bone
MPS III C
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
Congenital pectus excavatum
Malrotation of kidney
Townes syndrome
Persistent cloaca
Euthyroid Goiter
Renal cysts and diabetes syndrome
Fistula of branchial cleft
Abnormality of the middle ear ossicles
Abnormality of the renal collecting system
Papillorenal syndrome
Mondini malformation
Renal hypoplasia/aplasia
Morphological abnormality of the middle ear
Gustatory lacrimation
BRANCHIOOTIC SYNDROME 1
Branchiootorenal Syndrome 2
Dilatated internal auditory canal
Fara Chlupackova syndrome
Anterior chamber anomalies
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES AND CATARACT
Enlarged cochlear aqueduct
Abnormality of the cerebrum
Renal steatosis
Incomplete partition of the cochlea type II
Weaver-Like Syndrome
Weaver syndrome
Thin nails
Upper Extremity Deformities, Congenital
Short fourth metatarsal
Dilation of lateral ventricles
Leukemia, Megakaryoblastic, of Down Syndrome
Adult Erythroleukemia
Deep-set nails
Flared humerus
Flared humeral metaphysis
Dysharmonic bone age
Abnormally low-pitched voice
Erythroleukemia
Abortion, Habitual
Embolism
Factor X Deficiency
Hemarthrosis
Inherited Factor II deficiency
Menorrhagia
Postphlebitic Syndrome
Prothrombin time increased
Partial thromboplastin time increased (finding)
Mesenteric Venous Thrombosis
Hereditary factor II deficiency disease
Acute type A viral hepatitis
Atherosclerotic occlusive disease
Thrombosis of internal jugular vein
Thrombosis of subclavian vein
Petrous Sinus Thrombophlebitis
Intracranial Sinus Thrombophlebitis
Petrous Sinus Thrombosis
Central Nervous System Vascular Malformations
Blood Coagulation Disorders, Inherited
Upper Extremity Deep Vein Thrombosis, Primary
prothrombin gene mutation
3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Mesenteric vascular insufficiency
Infarction of spinal cord
Hereditary hyperhomocysteinemia
Factor II deficiency
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
Acute Mesenteric Arterial Embolus
Occlusive Mesenteric Arterial Ischemia
Nonocclusive Mesenteric Ischemia
Acute Mesenteric Arterial Thrombosis
Renal Allograft Thrombosis
Reduced prothrombin activity
Leri-Weill dyschondrosteosis
Cholestasis, chronic
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Sebaceous Gland Diseases
Rhinosinusitis
Adnexal Diseases
Factor VII Deficiency
Hereditary Factor XI Deficiency
Rocky Mountain Spotted Fever
stage, colon cancer
Hypodysfibrinogenemia
Skin hemorrhages
Familial Thrombotic Thrombocytopenic Purpura
Central Retinal Artery Occlusion
Hereditary Factor V Deficiency
Activated Partial Thromboplastin Time measurement
Prolonged whole-blood clotting time
Hemorrhagic colitis
Colitis, Ischemic
Sagittal Sinus Thrombosis
Central retinal vein occlusion - juvenile
Heparin cofactor II deficiency (disorder)
Atrial septal aneurysm
Thrombosis of inferior vena cava
Postoperative deep vein thrombosis
Septic Phlebitis, Sagittal Sinus
Sagittal Sinus Thrombophlebitis
Aortic thrombosis
Neonatal stroke
Persistent foramen ovale
Thrombosis of retinal vein
Bleeding Disorder, East Texas Type
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)
Acquired thrombophilia
Heterozygous prothrombin G20210A mutation
Stem Cell Factor Measurement
Familial antiphospholipid syndrome
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1
Acute deep venous thrombosis
factor V Hong Kong phenotype
Factor V deficiency
Hereditary Factor XIII Deficiency
Muscle hematoma
Chronic arthropathy
Hemophilic arthropathy
Hereditary factor VII deficiency disease
Traumatic intracranial hemorrhage
Occlusive thrombus
Hematoma, Subdural, Acute
Intracranial Hematoma, Traumatic
Posterior Fossa Hemorrhage
Acute cerebrovascular disease
Shoulder arthritis
Absent radius
Factor VII measurement
Congenital Bleeding Disorder
Prolonged bleeding after surgery
Reduced factor VII activity
Factor 8 deficiency, acquired
Hereditary factor VIII deficiency disease with inhibitor
Persistent bleeding after trauma
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
Autosomal Hemophilia A
Reduced factor VIII activity
Mandibuloacral dysostosis
Hereditary factor IX deficiency disease without inhibitor
Thrombophilia, X-Linked, Due To Factor Ix Defect
DEEP VENOUS THROMBOSIS, PROTECTION AGAINST
Reduced factor IX activity
Abnormality of the intrinsic pathway
Deficiency of factor X [Stuart-Prower]
Reduced factor X activity
Histidinemia
High molecular weight kininogen deficiency
Prolonged bleeding after dental extraction
Reduced factor XI activity
Hereditary Angioedema Type III
Hereditary angioedema with normal C1 esterase inhibitor activity
reported urticaria (physical finding)
Episodic upper airway obstruction
Dysfibrinogenemia, Congenital
Factor Xiii, A Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding
Rectal sensation
Colonic Inertia
POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO
Decreased adipose tissue
Myocardial Disorder
Cystic Adenomatoid Malformation of Lung, Congenital
Reticulocytopenia
Radial aplasia
absence of radius and ulna
Estren-Dameshek Variant of Fanconi Anemia
Estren-Dameshek Variant of Fanconi Pancytopenia
Duplicated collecting system
Complete duplication of thumb phalanx
Prolonged G2 phase of cell cycle
Deficient excision of UV-induced pyrimidine dimers in DNA
Anemic pallor
Multiple self-healing squamous epithelioma
Congenital facial asymmetry
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Paralytic Ileus
Hereditary hypertyrosinemia
Tyrosine Transaminase Deficiency Disease
Tyrosinemia, Type III
Islets of Langerhans hyperplasia
Episodic peripheral neuropathy
Hypertyrosinemia
Cone-Rod Dystrophy 5
Deficit in expressive language
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
Abnormality of the optic nerve
Absence attacks
Thromboangiitis
Chronic lymphocytic leukaemia stage 3
Adult Acute Myelomonocytic Leukemia
Childhood Acute Myelomonocytic Leukemia
Compound leukemias
Erythroid hypoplasia
Blast cell proliferation
Myelodysplastic syndrome, no ICD-O subtype
Refractory anemia with excess blasts II
Urethral atresia
FANCONI ANEMIA, COMPLEMENTATION GROUP B
VACTERL Association With Hydrocephalus
Vater Association With Hydrocephalus
Vater Association With Macrocephaly And Ventriculomegaly
Acute erythroleukemia
Meretoja syndrome
FANCONI ANEMIA, COMPLEMENTATION GROUP F
fanconi anemia complementation group g
Familial Amyloid Neuropathy, Portuguese Type
Vitreoretinal dystrophy
Personality Traits
Synpolydactyly 2
Synpolydactyly 3
Metatarsal synostosis
Metacarpal synostosis
Malignant tumor of eye
Verrucous carcinoma of oral cavity
SPINOCEREBELLAR ATAXIA 45
Marfan Syndrome type 2
Lens Subluxation
Other emphysema
Tricuspid Valve Prolapse
Feeling powerless
Acromicric Dysplasia
Weill-Marchesani syndrome
Talipes Calcaneovarus
Incisional hernia
Marfanoid hypermobility syndrome
Tracheobronchomalacia
Distal aortic dissection
Shallow anterior chamber of eye
Iridodonesis
Broad skull
Toe-walking gait
Dilatation of pulmonary artery, unspecified
Echocardiogram abnormal
Aneurysm of ascending aorta
Shprintzen-Goldberg syndrome
Microspherophakia
Increased axial globe length
Premature calcification of mitral annulus
Diaphragm, Complete Agenesis Of
Broad metatarsal
Widened metatarsal shaft
Ectopia lentis isolated
Misalignment of teeth
Stiff Skin Syndrome
Weill-Marchesani Syndrome, Autosomal Recessive
Weill-Marchesani Syndrome, Autosomal Dominant
computed tomography of chest: thoracic aortic aneurysm
Familial ectopia lentis
GEMSS syndrome
Dilatation of descending aorta
Fifth metacarpal with ulnar notch
Stiff skin
GELEOPHYSIC DYSPLASIA 2
Geleophysic dysplasia
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
Medial rotation of the medial malleolus
MARFAN SYNDROME, SEVERE CLASSIC
MARFAN SYNDROME, MILD VARIABLE
MARFAN SYNDROME, NEONATAL
MARFAN SYNDROME, ATYPICAL
MARFAN SYNDROME, AUTOSOMAL RECESSIVE
Broad phalanges of the hand
Recurrent abdominal hernia
Increased arm span
Crumpled ear
Abnormal cardiac ventricle morphology
Cerebrospinal Fluid Hypovolemia
Abnormality of position of teeth
POLYCYSTIC LIVER DISEASE 1
MARFAN LIPODYSTROPHY SYNDROME
ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
Distal arthrogryposis syndrome
Hecht syndrome (disorder)
Patellar subluxation
ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)
Arthrogryposis, distal, type 2E
ARTHROGRYPOSIS, DISTAL, TYPE 10
Arthrogryposis-like hand anomaly and sensorineural deafness
Oculomelic amyoplasia
Multiple Pterygium Syndrome, Autosomal Dominant
Abnormally folded helix
ARTHROGRYPOSIS, DISTAL, TYPE 1B
ARTHROGRYPOSIS, DISTAL, TYPE 5D
Calf muscle hypoplasia
MACULAR DEGENERATION, EARLY-ONSET
pituitary eosinophilic adenoma
Dominant drusen
Chronic venous insufficiency
DOYNE HONEYCOMB RETINAL DYSTROPHY
Drusen, Radial, Autosomal Dominant
Reticular pigmentary degeneration
Fructose-1,6-Diphosphatase Deficiency
Deficiency, Hexosediphosphatase
Increased urinary glycerol
Gram-negative bacteremia
IgE RESPONSIVENESS, ATOPIC
Acute urticaria
Rasmussen Syndrome
IgG RECEPTOR I, PHAGOCYTIC, FAMILIAL DEFICIENCY OF
Hepatitis C Virus Infection
Collagenous Sprue
Pulmonary renal syndrome
Type II hypersensitivity
Complicated malaria
Anemia in children
Alloimmune neonatal neutropenia
Kaposi's sarcoma classical type
Aplastic anemia, idiopathic
Hypopigmentation-immunodeficiency disease
Lupus Vasculitis, Central Nervous System
Lupus Meningoencephalitis
Neuropsychiatric Systemic Lupus Erythematosus
IMMUNODEFICIENCY 20
Tay-Sachs Disease
Congenital hypofibrinogenemia
Occipital Encephalocele
Myocardial fibrosis
Meningoencephalocele
Hypoplasia of the brainstem
Hypoplasia of the pyramidal tract
Hypoplastic male external genitalia
CARDIOMYOPATHY, DILATED, 1X
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
Cerebellar dysplasia
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
Hypoglycosylation of alpha-dystroglycan
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
Communicable Diseases
MASP2 Deficiency
Chronic rheumatic heart disease
Leprosy, Paucibacillary
Urinary Schistosomiasis
Hyperimmunoglobulinemia D
HEM dysplasia
Porokeratosis, Disseminated Superficial Actinic
Porokeratosis of Mibelli
POROKERATOSIS 9, MULTIPLE TYPES
AUDITORY NEUROPATHY AND OPTIC ATROPHY
Bile Duct Diseases
Skin-ache syndrome
Inherited disorder of porphyrin metabolism
Abnormality of the heme biosynthetic pathway
Meckel Diverticulum
Simple syndactyly of fingers - first web
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Duplication of renal pelvis
Birth length greater than 97th percentile
Broad secondary alveolar ridge
Submucous cleft lip
Six lumbar vertebrae
Two carpal ossification centers present at birth
Narrow sacroiliac notch
Polysplenia
Splenic Rupture
Umbilical bleeding
Intermenstrual heavy bleeding
Hypodysfibrinogenemia, Congenital
Fibrinogen Deficiency
Cervical spine hypermobility
Prominent umbilicus
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
Increased upper to lower segment ratio
Curved linear dimple below the lower lip
Broad philtrum
Autosomal recessive facio-digito-genital syndrome
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16
Pressure Ulcer
Tinea Versicolor
POEMS Syndrome
Corneal pannus
Congenital premature fusion
Recession
Periodontitis, Acute Nonsuppurative
Abdominal adhesions
Hemangioma of skin
Askin's tumor
Thanatophoric dysplasia, type 2
Hereditary Glomangioma
Maxillary Sinus Squamous Cell Carcinoma
Megakaryocytic Neoplasm
BENT BONE DYSPLASIA SYNDROME
Stomatognathic Diseases
Congenital aplasia of inner ear
Otodental Dysplasia
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Anteverted ears
Oculootodental Syndrome
Microtia, first degree
Profound sensorineural hearing impairment
Abnormality of canine
Agenesis of premolar
Abnormality of the maxilla
Absence of bicuspid
Trichomegaly
Thyroid stimulating hormone measurement
Pulmonary malformation
Acanthoma, Clear Cell
Acanthoma
Idiopathic pneumonia syndrome
Goldenhar Syndrome
Septo-Optic Dysplasia
Lobar Holoprosencephaly
Alobar Holoprosencephaly
Semilobar Holoprosencephaly
Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 6
Kallmann syndrome, type 3, recessive
Hemifacial microsomia
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
Small pituitary gland
Malignant neoplasm of upper lobe, bronchus or lung
Malignant neoplasm of middle lobe, bronchus or lung
Malignant neoplasm of lower lobe, bronchus or lung
Malignant neoplasm of other parts of bronchus or lung
Multiple synostosis syndrome
Multiple synostoses syndrome 1
Limited interphalangeal movement
Radiohumeral synostosis of elbow
Multiple Synostoses Syndrome 3
Ramer Ladda syndrome
Dacryocystitis
Intestinal Atresia
Aplasia of Lacrimal and Salivary Glands
Uhl anomaly
Corneal Perforation
Agenesis of punctum lacrimale
Iridocele
Coronal hypospadias
Hypoplasia of parotid gland
Pleuropulmonary blastoma type I
Small thenar eminence
Isolated hypoplasia of the right ventricle
Absence of Stensen duct
Lacrimal gland hypoplasia
Lacrimal Puncta, Absence of
Hypoplastic lacrimal duct
Absence of the parotid gland
Subcoronal hypospadias
Absent proximal phalanx of thumb
Hypoplasia of the lacrimal puncta
Bilateral triphalangeal thumbs
Aplasia of the parotid gland
Radial deviation of the 3rd finger
Lacrimal gland aplasia
Partial duplication of thumb phalanx
Agenesis of parotid duct
Multifocal epileptiform discharges
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
Borjeson-Forssman-Lehmann syndrome
Dyskinesias, Paroxysmal
SPINOCEREBELLAR ATAXIA 27
Sensory axonal neuropathy
Peripheral sensory axonal neuropathy
Pseudarthrosis
Unerupted tooth
Chordee
Synkinesis
Hypothalamic amenorrhea
Encephalocraniocutaneous lipomatosis
Ankylosis of the elbow joint
Interfrontal craniofaciosynostosis
Lumbar hemivertebra
Osteoglophonic dwarfism
Hallux Varus
Choanal stenosis
JACKSON-WEISS SYNDROME
Hypoplasia of the pituitary gland
Diencephalic Neoplasm
Thalamic Neoplasm
Gonadotropin releasing factor deficiency
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Hypoplasia of the frontal bone
Brachyturricephaly
Anterior pituitary hypoplasia
Cartilaginous trachea
Craniofacial hyperostosis
Rosette-forming glioneuronal tumor of the fourth ventricle
Metastatic Lobular Breast Carcinoma
Neoplasm of skeletal system
Pfeiffer type acrocephalosyndactyly
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME
Linear hyperpigmentation
Phosphaturic mesenchymal tumor, benign
Congenital hypogonadotropic hypogonadism
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
Neoplasia of the skeletal system
Bicoronal synostosis
Short middle phalanx of toe
Lipomas of the central neryous system
Calcaneonavicular fusion
Multiple unerupted teeth
Abnormality of the nasopharynx
Thin bone of forehead
Hypotrophic frontal bones
Thick craniofacial bones
Enlargement of craniofacial bones
Hypertrophy of craniofacial bones
Dermatosis Papulosa Nigra
Acquired Camptodactyly
Bladder papilloma
Teratoma of testis
Organoid Nevus Phakomatosis
Posterior fossa compression syndrome
Physical addiction
Chondrodysplasia Punctata, Rhizomelic
Stucco keratosis
Woolly hair nevus
Verrucous epidermal nevus
Trident hand
Long thorax
Thanatophoric dysplasia, type 1
Inverted urothelial papilloma
Stenosis of foramen magnum
Cloverleaf skull micromelia thoracic dysplasia
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
Bowed humerus
Wide-cupped costochondral junctions
Small foramen magnum
Small abnormally formed scapulae
Lumbar kyphosis in infancy
Muenke Syndrome
CATSHL syndrome
Increased vertebral height
Broad femoral metaphyses
Stage 0a Bladder Urothelial Carcinoma
Lethal short-limbed short stature
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
Familial acanthosis nigricans
Skeletal dysplasia, San Diego type
Enlarged cerebellum
EMBRYONAL CELL CARCINOMA
Infantile axial hypotonia
Nevus, Keratinocytic, Nonepidermolytic
Abnormality of lower limb joint
Prominent crus of helix
Abnormality of the elbow
Spinal stenosis with reduced interpedicular distance
Narrow internal auditory canal
Unicoronal synostosis
Thimble-shaped middle phalanges of hand
Hypoplasia of foramen magnum
Ankylosis
Adenocarcinoma, Scirrhous
Developmental Coordination Disorder
Dextraposition of aorta
Motor Skills Disorders
RETINITIS PIGMENTOSA 1
Overriding aorta
Ectopic anus
Endometrial neoplasm malignant metastatic
Asymmetrical skull
Unicoronal craniosynostosis
Bent bone dysplasia
Incomplete ossification of pubis
Atresia of vagina
Acrocephalosyndactylia
Cervical Keratinizing Squamous Cell Carcinoma
Hidradenitis suppurativa, familial
Cleft of chin
Palmoplantar cutis gyrata
Cutis Gyrata Syndrome of Beare And Stevenson
Prominent scrotal raphe
Preauricular skin furrow
Flat forehead
Absent first metatarsal
Apert-Crouzon Disease
Vogt Cephalodactyly
Abnormal morphology of the limbic system
Acrobrachycephaly
Broad distal phalanx of the thumb
Broad distal hallux
Anomalous tracheal cartilage
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
Overfolding of the superior helices
CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT
SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY
Antley-Bixler Syndrome Phenotype
Steep acetabular roof
Abnormality of the posterior cranial fossa
Deviation of the thumb
PFEIFFER SYNDROME, TYPE III
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 2nd finger
Morphological abnormality of the semicircular canal
Metopic depression
Mild fetal ventriculomegaly
Abnormality of the zygomatic bone
Cervical C5/C6 vertebrae fusion
Abnormality of the pancreas
Abnormality of the periosteum
Malformation of skull shape
Abnormality of skull shape
Oncogene Addiction
CANCER PROGRESSION AND TUMOR CELL MOTILITY
FIBRINOGEN MILANO XII, DIGENIC PHENOTYPE
FG syndrome
Hypertensive Retinopathy
Choroid plexus cyst
Cutaneous leiomyoma
Mucinous cystadenoma of ovary
Malignant lymphoma of spleen
Vertigo, Paroxysmal
Pulsatile Tinnitus
Papillary renal cell carcinoma type 2
Episodic paroxysmal anxiety
Elevated urinary epinephrine
Open operculum
Fumaric aciduria
Elevated urinary dopamine
Positive regitine blocking test
Elevated urinary norepinephrine
Recurrent paroxysmal headache
Fibroadenosis
Maximal Voluntary Ventilation
Microinvasive carcinoma
tuberculosis chronic pulmonary
Torre-Muir syndrome
Hereditary Clear Cell Renal Cell Carcinoma
Maximum breathing capacity function
Hereditary Renal Cell Carcinoma
Familial renal cell carcinoma
Reducing-body myopathy
Complement Factor H Deficiency
Dislocation of toe joint
Broad nail
Marked muscular hypertrophy
Progressive pes cavus
Myopathy, Reducing Body, X-Linked, Childhood-Onset
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
GRISCELLI SYNDROME, TYPE 2
Vascular graft infection
Neonatal disorder
Spinal Neoplasms
Acrocallosal Syndrome
Rett Syndrome, Atypical
FOXG1 syndrome
Intraspinal Neoplasm
Abnormality of the antitragus
14q12 microdeletion syndrome
Annular pancreas
VATER Association
Anomalous pulmonary vein
Single umbilical artery
Pyloric Stenosis, Infantile Hypertrophic, 5
Alveolar capillary dysplasia
VATER/VACTERL ASSOCIATION
Secondary glaucoma
Saddle nose
Lymphedema distichiasis syndrome
Double kidney (disorder)
Goniodysgenesis
IRIS HYPOPLASIA WITH GLAUCOMA
Hypoplastic iris stroma
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
IRIDOGONIODYSGENESIS, TYPE 1 (disorder)
Glaucoma Iridogoniodysplasia, Familial
Abnormal iris vasculature
Rieger eye malformation sequence
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
Dandy-Walker Syndrome, Familial
Compensated hypothyroidism
Enlarged Vestibular Aqueduct
Congenital aphakia
Aphakia, congenital primary
Anterior segment of eye aplasia
Cataract, Autosomal Recessive Congenital 3
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
Predominantly lower limb lymphedema
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
Bifid epiglottis
Thyroid hemiagenesis
Abnormality of neck blood vessel
THYROID CANCER, NONMEDULLARY, 4
Compensated liver disease
Adult Rhabdomyosarcoma
Skeletal Muscle Neoplasm
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
Dermoid cyst of ovary
Autoimmune inflammation of skeletal muscle
Hand eczema
Subacute dermatitis
Flexural atopic dermatitis
Keratosis pilaris
Pachyonychia Congenita
Primary lactose intolerance
Exercise anaphylaxis
Inherited disorder of keratinization
Disorder of keratinization
atopic eczema/dermatitis (non-specific)
alcohol sensitivity
Infantile atopic dermatitis
Childhood atopic dermatitis
Chronic hand eczema
Onset of psoriasis in childhood (1-10 years)
Occupational irritant contact dermatitis
Dermatitis, Atopic, 2
Oral allergy syndrome
Job Syndrome
Infection by Leishmania braziliensis
blastema predominant Wilms' tumor
Absence of rib
Vascular fragility
Mucocutaneous leishmaniasis
Thrombocytopenia Paris-Trousseau type
Long hallux
Paris-Trousseau Thrombocytopenia
American cutaneous leishmaniasis
Clinodactyly of toe
Toe curvature
BLEEDING DISORDER, PLATELET-TYPE, 21
Corticospinal tract hypoplasia
Abnormality of the tracheobronchial system
Ophthalmia, Sympathetic
Cluster B personality disorder
Epiglottitis
Stridor
Contracture of multiple joints
Noisy respiration
Hypoplasia of muscle
Cardiac valvular dysplasia, X-linked
Oto-Palato-digital syndrome type 1
Frontometaphyseal dysplasia
Accessory carpal bones
Flexion contracture - wrist
Stenosis of ureter
Malignant Cystosarcoma Phyllodes
Localized skin lesion
Bipartite calcaneus
Thick skull base
Limited knee flexion
Large forehead
Anterior concavity of thoracic vertebrae
Frontal hirsutism
Multiple impacted teeth
Short 4th metacarpal
Antegonial notching of mandible
Anteriorly placed odontoid process
Increased density of long bone diaphyses
Partial fusion of carpals
Partial fusion of tarsals
OTOPALATODIGITAL SYNDROME, TYPE II
Vertical clivus
Rudimentary fibula
Nonossified fifth metatarsal
Heterotopia, Periventricular, Ehlers-Danlos Variant
FG SYNDROME 4 (disorder)
FG SYNDROME 3
FG SYNDROME 2
Terminal Osseous Dysplasia and Pigmentary Defects
Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia
Short 3rd metacarpal
Sclerosis of skull base
Neuronal intestinal pseudoobstruction
Absent/hypoplastic paranasal sinuses
Lateral femoral bowing
cleft palate on exam
Congenital idiopathic intestinal pseudoobstruction
Otopalatodigital Spectrum Disorder
Frontootopalatodigital Osteodysplasia
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED
Abnormal ossification involving bones of the feet
Underdeveloped superior crus of antihelix
Abnormal foot bone ossification
Abnormal hand bone ossification
Undulate clavicles
Long metacarpals
Short distal phalanx of hallux
Intestinal hypoplasia
Abnormality of the pubic bone
Short chordae tendineae of the mitral valve
Abnormality of the fifth metatarsal bone
Short chordae tendineae of the tricuspid valve
Coat hanger sign of ribs
Irregular metacarpals
Long phalanx of finger
Bulbous tips of toes
Steep mandibular plane angle
HyperCalcification of skull base
HyperMineralization of skull base
Congenital dysplasia of cardiac valve
Abnormal maturation of foot bones
Hypertrophy of forehead
Hyperplasia of forehead
Multiple buried teeth
Missing all teeth
FRONTOMETAPHYSEAL DYSPLASIA 1
Abnormal maturation of the hand bone
Exhibitionism
Laryngostenosis
Reiter Syndrome
Traumatic dislocation of joint of wrist
Knee Dislocation
Spatulate thumbs
Atelosteogenesis, type 1
Congenital anomaly of skeletal bone
Talipes Equinovalgus
Congenital dislocation of knee
Brachyonychia
Boomerang dysplasia
Other congenital malformations of spine, not associated with scoliosis
Skeletal malformation
Multiple carpal ossification centers
Block vertebrae
Hypoplastic iliac body
Broad distal phalanx of finger
Severe short-limb dwarfism
Hypoplastic nasal septum
Cervical segmentation defect
Tombstone-shaped proximal phalanges
Widened distal phalanges
Thoracic platyspondyly
Aplasia/Hypoplasia of the ulna
C2-C3 subluxation
Atelosteogenesis Type 3
Equinovalgus deformity
Poorly ossified vertebrae
Multinucleated giant chondrocytes in epiphyseal cartilage
Distal tapering femur
Large joint dislocations
Familial restrictive cardiomyopathy (disorder)
Other restrictive cardiomyopathy
Filaminopathy, autosomal dominant
Distal lower limb amyotrophy
Lower limb atrophy
MYOPATHY, DISTAL, 4
Lower limb muscle hypotrophy
Distal upper limb amyotrophy
Abnormality of the calf musculature
Muscle fiber cytoplasmatic inclusion bodies
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
Twin placenta
Exudative age-related macular degeneration
Shwachman syndrome
Carcinomatous ascites
Hepatic Insufficiency
TUBEROUS SCLEROSIS 1 (disorder)
Neonatal leukaemia
Trisomy 22
Bone Marrow Suppression
Sarcoma of breast
Neutrophilic dermatosis
Mast cell malignancy
Clonal Evolution
Chronic myeloid leukemia in lymphoid blast crisis
Acute myeloid leukemia with mutated NPM1
Hyperleukocytosis
Refractory Acute Myeloid Leukemia
Neutropenic sepsis
Emberger syndrome
Localized edema
Hemangioendothelioma
Lymphangiectasis
Lymphangiectasis, Intestinal
Abnormal amniotic fluid
Dermatitis verrucosa
Malignant neoplasm of thymus
Hereditary edema of legs
Radiation-Related Angiosarcoma
Hyperkeratosis over edematous areas
HEMANGIOMA, CAPILLARY INFANTILE
Hypoplasia of lymphatic vessels
Trimethylaminuria
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
FMO3 ACTIVITY, DECREASED
Increased frequency of micturition
Phobia, Specific
Dysesthesia
Head movements abnormal
Developmental symptoms
Parkinsonian tremor
audiogenic seizure
neurodevelopmental anomaly
Dyssomnias
psychosocial impairment
Renpenning syndrome 1
Gonadal Agenesis
Folate-dependent fragile site at Xq28
Impaired distal vibration sensation
Peroxisome Biogenesis Disorder, Complementation Group G
Poor fine motor coordination
Mood instability
Agoraphobia without panic disorder
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
Learning disabled
Inertia
Congenital macroorchidism
Constant urination
Fasciitis
Scleredema Adultorum
Submandibular Gland Diseases
Congenital atresia of pulmonary valve
Adhesion of lung
Ehlers-Danlos syndrome 6B
Fibrillary glomerulonephritis
Fibronectin measurement
Native valve endocarditis
Vegetation
Posterior capsule opacification
Graft versus host disease in skin
Epidermolysis bullosa with pyloric atresia
Hereditary Myopathy with Early Respiratory Failure
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)
Glomerulopathy with fibronectin deposits
Generalized distal tubular acidosis
Hyperconvex vertebral body endplates
Mesangial abnormality
Peritonsillar Abscess
Folate Malabsorption, Hereditary
Brain Diseases, Metabolic, Inherited
Brain Diseases, Metabolic, Inborn
Central Nervous System Inborn Metabolic Diseases
Epithelioid hemangioma of skin
Histiocytoid hemangioma
Cycloid psychosis
Benign bone neoplasm
Bone Epithelioid Hemangioma
Perihilar Cholangiocarcinoma
Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma
Retroperitoneal liposarcoma
Pearson's marrow-pancreas syndrome
Ventricular septal hypertrophy
Cerebellar Ataxia, Early Onset
Harding ataxia
Pallidoluysian degeneration
Congenital atransferrinemia
Cervical spinal cord atrophy
FRIEDREICH ATAXIA WITH RETAINED REFLEXES
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
Impaired proprioception
Areflexia of lower limbs
Mitochondrial malic enzyme reduced
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne
Impaired visually enhanced vestibulo-ocular reflex
Decreased amplitude of sensory action potentials
Decreased pyruvate carboxylase activity
Spinocerebellar ataxia type 10
Fragile Site 16p12
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB
Asthenia
Mild depression
Type II Endometrial Adenocarcinoma
FOCAL CORTICAL DYSPLASIA OF TAYLOR
Focal Cortical Dysplasia of Taylor, Type IIa
CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY
Focal Cortical Dysplasia of Taylor, Type IIb
Deep plantar creases
Perisylvian polymicrogyria
Focal white matter lesions
SMITH-KINGSMORE SYNDROME
FOCAL CORTICAL DYSPLASIA, TYPE IIA
FOCAL CORTICAL DYSPLASIA, TYPE IIB
FCD IIA
FCD IIB
Foot tapping
Retinal telangiectasia
Beevor's sign
Shoulder weakness
Restrictive deficit on pulmonary function testing
Facioscapulohumeral muscular dystrophy 1a
Renal cancer metastatic
OSTEOARTHRITIS SUSCEPTIBILITY 1
Leydig cell hyperplasia
Lateral Medullary Syndrome
Follicle stimulating hormone deficiency
Delayed menarche
Follicle-stimulating hormone deficiency, isolated
Decreased female libido
Bilateral breast hypoplasia
Disorder of the genitourinary system
Cullen's sign
Increased testosterone
Severe hypothyroidism
Ovarian dysgenesis
Mullerian aplasia
Hemorrhagic cyst of ovary
Pure Gonadal Dysgenesis, 46, XX
Acquired hypothyroidism
Leydig Cell Hypoplasia
Gonadal Dysgenesis, 46,XX
Increased capillary permeability (finding)
Hypergonadotropic amenorrhea
Erectile Dysfunction Adverse Event
menstrual periods stopped for over 6 months
Hyperreactio luteinalis
Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous
Genitourinary dysplasia
Aplasia/hypoplasia of the uterus
Increased serum testosterone level
Glucocorticoid deficiency with achalasia
Iron Overload, Autosomal Dominant
Tularemia
Anarthria speech disorder
Decreased serum ferritin
Infantile Neuroaxonal Dystrophy
Ferritin level low
L-FERRITIN DEFICIENCY
L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE
Cavitation of the basal ganglia
True Hermaphroditism (disorder)
Uterine Anomalies
Adrenal mass
PREMATURE OVARIAN FAILURE 7 (disorder)
SPERMATOGENIC FAILURE 8
Cryptozoospermia
Abnormal scrotal rugation
Streaky metaphyseal sclerosis
Ovotesticular Differences of Sex Development
46,XX SEX REVERSAL 4
ADRENAL INSUFFICIENCY, NR5A1-RELATED
Angiokeratoma
Fucosidase Deficiency Disease
Gallbladder anomaly congenital
Fucosidosis Type I
Fucosidosis Type II
Tortuosity of conjunctival vessels
Cervical platyspondyly
Absent/hypoplastic coccyx
Oligosacchariduria
Mucopolysacchariduria
Anterior beaking of thoracic vertebrae
Impetigo
Jervell-Lange Nielsen Syndrome
Mastitis
Streptococcal sore throat
Cerebellar decompression injury
Ossifying fibromyxoid tumor
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
Amyotrophic lateral sclerosis, type 6
Juvenile amyotrophic lateral sclerosis
TREMOR, HEREDITARY ESSENTIAL, 4
Frontotemporal Dementia With Motor Neuron Disease
Pseudobulbar behavioral symptoms
Abnormal upper motor neuron morphology
BOMBAY PHENOTYPE
PARA-BOMBAY PHENOTYPE
Caliciviridae Infections
Infections, Calicivirus
Bacterial cholangitis
Viral gastroenteritis due to Rotavirus
Hereditary allergy
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
Enteritis due to Norovirus
Infection caused by Norovirus
Gastroenteritis in children
Leukocyte-Adhesion Deficiency Syndrome
Erythrokeratodermia variabilis
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4
Body Fat Distribution
Hemolytic disorder
Interleukin 8 Measurement
Decreased mean platelet volume
Small platelet size
Thrombocytopenia 3
Other dermatoses
Pentalogy of Cantrell
Omodysplasia 2
Glycogen Storage Disease Type VIII
Glucose-6-phosphate transport defect
Doll-like facies
Anemia, Hemolytic, Congenital Nonspherocytic
Hartnup Disease
Phagocyte Bactericidal Dysfunction
Enzyme Deficiency
Ovale malaria
Unsaturated iron binding capacity measurement
Red blood cell disorder
Unconjugated hyperbilirubinemia
Anemia of pregnancy
Anemia due to infection
Drug-induced hemolytic anemia
Uridine monophosphate hydrolase deficiency
Chronic non-spherocytic hemolytic anemia
Enzymopathy
Hemoglobin A1 measurement
Thalassemia trait
malaria relapse
hereditary anemia
Hyperbilirubinemia, Neonatal
Acute intravascular hemolysis
Transferrin saturation measurement
Deficiency of glucose-6-phosphate isomerase
6-Phosphogluconolactonase Deficiency
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
Fava bean-induced hemolytic anemia
GLYCOGEN STORAGE DISEASE Ic
Glycogen storage disease type Id
Spider hemangioma
Shortened PR interval
Adult Glycogen Storage Disease Type II
Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Juvenile
Firm muscles
Cardiac form of generalized glycogenosis
Glycogen storage disease due to acid maltase deficiency, infantile onset
Pompe's disease adult onset
GLYCOGEN STORAGE DISEASE II, ADULT FORM
Logopenic progressive aphasia
Viral myocarditis
succinic semialdehyde dehydrogenase deficiency
Cholestatic hepatitis
Zika Virus Infection
Staphylococcus Aureus Pneumonia
Blackout - symptom
Alcoholic blackout
Focal Clonic Seizures
EPILEPSY, CHILDHOOD ABSENCE, 1
Hemiclonic seizures
Epilepsy, Childhood Absence, Susceptibility To, 4
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 (disorder)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
Obtundation status
Pschomotor retardation
Conduct disorder, childhood-onset type
Polydrug abuse
Social Communication Disorder
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO
Seizure, Febrile, Simple
Seizure, Febrile, Complex
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
FEBRILE CONVULSIONS, FAMILIAL, 8
Facial Pain
Schizophrenia, Childhood
Diabetes in children
Connective tissue inflammation
Decerebrate State
Late-Onset Globoid Cell Leukodystrophy
Infantile Globoid Cell Leukodystrophy
Progressive spasticity
Dysmyelinating leukodystrophy
Abnormal flash visual evoked potentials
Deficiency of galactokinase
Galactosuria
UDPglucose 4-epimerase deficiency disease
GALACTOSE EPIMERASE DEFICIENCY, SEVERE
Hypergalactosemia
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)
Cataract secondary to ocular disorder
Presenile cataract
After-cataract
Impairment of galactose metabolism
Mucopolysaccharidosis type IVB
Cervical subluxation
Flaring of rib cage
Grayish enamel
Constricted iliac wings
Epiphyseal deformities of tubular bones
Pointed proximal second through fifth metacarpals
beta-Galactosidase Deficiency
Chondroitin sulfate excretion in urine
Keratan sulfate excretion in urine
Large elbow
Other chondrocalcinosis
Hyperostosis-hyperphosphatemia syndrome
Testicular Microlithiasis
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
Classical galactosemia, homozygous Duarte-type
Apraxia, Verbal
Speech articulation difficulties
GALACTOSEMIA, DUARTE VARIANT
Abnormality of the ovary
Guanidinoacetate methyltransferase deficiency
Progressive extrapyramidal movement disorder
Pharyngotonsillitis
Dermatitis and eczema
Charcot-Marie-Tooth disease, Type 2D
Thenar muscle weakness
First dorsal interossei muscle weakness
First dorsal interossei muscle atrophy
Cold-induced hand cramps
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
Thenar muscle atrophy
Spastic paraplegia 17
Upper limb amyotrophy
Acute anaemia
SMALL PATELLA SYNDROME
Atelectasis
CILIARY DYSKINESIA, PRIMARY, 33
Hypochromic anemia
Acute Basophilic Leukemia
Poikilocytosis
Stenosis of duodenum
Delta-Beta Thalassemia
Anemia due to decreased red cell production
Ineffective erythropoiesis
Atlantoaxial instability
Trisomy 21- mitotic nondisjunction mosaicism
Anemia of inadequate production
Brushfield spots
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Dyserythropoietic Anemia with Thrombocytopenia
Shallow acetabular fossae
Shallow acetabulum
Deficiency of Uroporphyrinogen III Synthase
Aase Smith syndrome 2
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA
THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA
Abnormality of cells of the megakaryocyte lineage
Abnormality of reticulocytes
Speckled iris
Polyradiculoneuropathy
Monocytopenia
Neutrophil count abnormal
Recurrent mycobacterium avium complex infections
Neuropathy, Painful
GATA2 Deficiency
Familial Acute Myeloid Leukemia with Mutated Cebpa
Abnormal natural killer morphology
Hypocellular Myelodysplastic Syndrome
Acute blood cancer
Eosinophilia, Tropical
Cow milk allergy
Chromosome 10, monosomy 10p
Parathyroid hypoplasia
Tuberculin (skin test) positive
Persistent Ostium Primum
Small penis
Low Grade Gastric Intraepithelial Neoplasia
Atrial septal defect 2
Chromosome 8, monosomy 8p23 1
VENTRICULAR SEPTAL DEFECT 1
ATRIOVENTRICULAR SEPTAL DEFECT 4
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
Gallbladder, Agenesis Of
Congenital hypoplasia of pancreas
Hypertrophy of bladder
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease
Yorifuji Okuno syndrome
Obstruction of aortic arch
Neonatal insulin-dependent diabetes mellitus
ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIAL SEPTAL DEFECT 9
PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
Pancreatic aplasia
Arginine:Glycine Amidinotransferase Deficiency
Deficiency of pyruvate kinase
Other sphingolipidosis
Recurrent aspiration pneumonia
Calcification of mitral valve
Calcification of the aorta
Atrophoderma maculatum
Supranuclear ophthalmoplegia
Breast Lymphoma
GAUCHER DISEASE, PERINATAL LETHAL
Decreased beta-glucocerebrosidase protein and activity
Reticular hyperpigmentation
Erlenmeyer flask deformity of the femurs
Gaucher Disease, Type Iiic
Slowed horizontal saccades
Hypometric horizontal saccades
Gaucher Disease, Type IIIa
Gaucher Disease, Type IIIb
Gaucher Disease, Norrbottnian Type
Bulbar signs
Gaucher-like disease
Horizontal supranuclear gaze palsy
Polyglucosan Body Disease, Adult Form
GSD IV, Classic Hepatic
GSD IV, Nonprogressive Hepatic
GSD IV, Neuromuscular Form, Fatal Perinatal
GSD IV, Neuromuscular Form, Congenital
GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
Cirrhosis, familial, with deposition of abnormal glycogen
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC
GLYCOGEN STORAGE DISEASE IV, FATAL PERINATAL NEUROMUSCULAR
ADULT POLYGLUCOSAN BODY NEUROPATHY
Usher Syndrome
Diffuse panbronchiolitis
Vitamin D measurement
Melalgia
Glutaric aciduria, type 1
Infantile encephalopathy
Symmetrical progressive peripheral demyelination
Glucagonoma
Generalized Spasms
Ciliary Body Spasm
Diabetes mellitus autosomal dominant type II (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder)
Pachyonychia Congenita, Jadassohn Lewandowsky Type
Oculopharyngodistal Myopathy
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
Increased glucagon level
increased risk of pancreatic cancer
Abnormal biliary tract morphology
Pain in esophagus (finding)
Visceral Pain
Transient hyperphenylalaninemia
Phenylketonuria II
Hyperphenylalaninemia, BH4-Deficient, B
6-pyruvoyl-tetrahydropterin synthase deficiency
Lumbar radiculopathy
Pyramidal tract dysfunction
DYSTONIA 18 (disorder)
Parkinsonism with favorable response to dopaminergic medication
Abnormality of the substantia nigra
Nesidioblastosis
Microalbuminuria
Hypoglycaemic episode
Glucose Metabolism Disorders
High urine albumin levels
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
DIABETES MELLITUS, PERMANENT NEONATAL
Recurrent hypoglycemia
Developmental Delay, Epilepsy, and Neonatal Diabetes
Reduced pancreatic beta cells
Hyperinsulinemic hypoglycemia, familial, 3
Beta-cell dysfunction
Limb joint contracture
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Diabetes in youth
Monogenic diabetes
DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE-ONSET
Abnormal C-peptide level
Insulin C-peptide measurement
Lactic acid measurement
Leptin measurement
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
CATARACT 13 WITH ADULT i PHENOTYPE
Blood group antigen abnormality
Cone monochromatism
Achromatopsia incomplete, X-linked
CONE DYSTROPHY 5, X-LINKED
Posterior cortical atrophy syndrome
Double Outlet Right Ventricle, Noncommitted VSD
Double Outlet Right Ventricle, Subaortic VSD
Double Outlet Right Ventricle, Subpulmonary VSD
Taussig-Bing Anomaly
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5
Peripheral angiopathy in diseases classified elsewhere
Muscle hypertrophy
HIV Wasting Syndrome
Myostatin-related muscle hypertrophy
Age-related sarcopenia
Congenital Disorders
Erosive esophagitis
Radiation-induced xerostomia
Hemiparkinsonism
Hirschsprung disease type 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
Nervous system--Degeneration
Glioneuronal Tumor with Neuropil-Like Islands
Diffuse demyelination of the cerebral white matter
Toxic effect of carbon tetrachloride
Profound sensorineural hearing loss
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Progressive cataract
Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, Autosomal Dominant 2
Dursun Syndrome
NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
decreased absolute neurophile count (ANC)
Pseudomyopathic myasthenia
MYASTHENIC SYNDROME, CONGENITAL, 12
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
Absent retinal pigment epithelium
Keutel syndrome
Increased number of skin folds
Benign recurrent intrahepatic cholestasis
gamma-Glutamyltransferase deficiency
RADIAL-RENAL SYNDROME
Congenital disorder of glycosylation type 2D
Empty Sella Syndrome
Hemianopsia
Snoring
Slipped Capital Femoral Epiphyses
Nephropathia Epidemica
Hypothyroidism, Congenital, Nongoitrous, 4
Central hypothyroidism
Tumor-induced hypoglycemia
Gigantism and acromegaly
Langer Mesomelic Dysplasia Syndrome
Chromosome 18p deletion syndrome
Acute myocardial ischemia
Insulin-Like Growth Factor I Deficiency
SHORT STATURE, IDIOPATHIC, X-LINKED
Pygmy (disorder)
Kowarski syndrome
Potassium depletion
Isolated Growth Hormone Deficiency, Type IB
CHROMOSOME Xq26.3 DUPLICATION SYNDROME
Short Stature Homeobox Deficiency
Pituitary stalk interruption syndrome
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES
Deciduoma
Abnormal joint morphology
Congenital hypoplasia of nose
Short Stature, Idiopathic, Autosomal
Hypoplastic nasal bridge
LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
Aplasia/Hypoplasia involving the nose
Decreased serum insulin-like growth factor 1
Hypotrophic nose
Hypotrophic bridge of nose
Specific disorders of sleep of non-organic origin
Alstrom Syndrome
Somatotroph hyperplasia
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
Digestive System Neoplasms
TSH secreting adenoma
Constitutional delay of growth and puberty
Normal bowel habits
Acute respiratory infections
Congenital deficiency of intrinsic factor
Megaloblastic anemia, secondary
Malabsorption of Vitamin B12
Increased mean corpuscular volume
Megaloblastic anemia due to inborn errors of metabolism
Megaloblastic erythroid hyperplasia
Intrinsic Factor Deficiency
Vitamin B12 deficiency caused by intestinal malabsorption
Bone marrow biopsy shows megaloblastic erythroid hyperplasia
Absence of intrinsic factor
Other specified diseases of pancreas
Fetal malnutrition without mention of light-for-dates
Insulin measurement
Crisscross Heart
Urethral Obstruction
Epilepsy, Complex Partial
Common atrioventricular canal
Bacterial peritonitis
Persistent pupillary membranes
Atrioventricular septal defect and common atrioventricular junction
Secondary malignant neoplasm of female breast
Labored breathing
Gastrointestinal stromal tumor of small intestine
Thin anteverted nares
Vertebral hyperostosis
3-4 toe syndactyly
Short 5th finger
Greither Disease
Bony paranasal bossing
Club-shaped distal femur
Patchy sclerosis of finger phalanx
SYNDACTYLY, TYPE III
Aplasia/Hypoplasia of the middle phalanges of the hand
Alopecia congenita keratosis palmoplantaris
Joint contracture of the 5th finger
Oculodentodigital Dysplasia, Autosomal Recessive
Craniometaphyseal dysplasia, autosomal recessive type
Basaran Yilmaz syndrome
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
ATRIOVENTRICULAR SEPTAL DEFECT 3
Absent middle phalanx of 5th finger
Fingernail dysplasia
2-4 toe cutaneous syndactyly
4-5 finger syndactyly
Fifth finger distal phalanx clinodactyly
Congenital alopecia totalis
Curvature of outermost bone of little finger
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 3
Atrial standstill
CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb
ATRIAL FIBRILLATION, FAMILIAL, 11
ATRIAL FIBRILLATION, SOMATIC
Atrial cardiomyopathy
Sclerocornea, Autosomal Dominant
Lamellar pulverulent cataract
Broca Aphasia
Tooth Diseases
Sensory Disorders
Axonal sensorimotor neuropathy
CNS symptom
Aphasia, Expressive
Talipes cavus equinovarus
Progressive distal muscle weakness
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3 (disorder)
Abnormal nerve conduction velocity
Hearing Loss, Bilateral
Phlegmon
Presbycusis
Xeroderma
Congenital cytomegalovirus infection
Hidradenitis Suppurativa
Trichiasis
Senter syndrome
Mutilating keratoderma
Knuckle pads, leuconychia and sensorineural deafness
Pseudoainhum
Recessive sensorineural hearing loss
Hearing loss associated with syndrome
Conductive hearing loss, bilateral
Eccrine nevus
Porokeratotic eccrine ostial and dermal duct nevus
Other congenital ichthyosis
Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp
Non-Small Cell Adenocarcinoma
Amniotic Bands
Punctate epithelial keratitis
Palmoplantar Keratoderma with Deafness
Progressive hearing loss stapes fixation
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
Autoamputation of digits
Stapes ankylosis
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
Honeycomb palmoplantar keratoderma
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
Hyperkeratosis of the palms and soles and esophageal papillomas
Hearing impaired children
Abnormality of corneal stroma
Keratoderma palmoplantaris transgrediens
Deafness, Autosomal Dominant 2B
Peripheral neuropathy with sensorineural hearing impairment syndrome
Episodic vomiting
Frequent vomiting
Adrenocortical hypoplasia
Primary Erythermalgia
neurological pain
Rectal tenesmus
Cornea verticillata
Left ventricular septal hypertrophy
Fabry Disease, Cardiac Variant
Small Fiber Neuropathy
Metastatic renal carcinoma
Simpson-Golabi-Behmel syndrome
Gangliosidoses
Pseudo-Hurler Polydystrophy
Gangliosidosis, Generalized GM1, Type 1 (disorder)
Gangliosidosis, Generalized GM1, Type 2
Gangliosidosis, Generalized GM1, Type 3
Gangliosidoses, GM2
Thick rib
Beta-galactosidase deficiency in fibroblasts and white blood cells
Decreased beta-galactosidase activity
Progressive psychomotor deterioration
Elliptocytosis 4
Hypoplastic vertebral bodies
Intimal thickening in the coronary arteries
Gangliosidosis, Generalized GM1, Late-Infantile Type
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
Mucolipidosis II [I-cell disease]
Presence of foam cells
Coronary Vessel Anomalies
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Late-onset spinocerebellar degeneration
Aggressive outburst
Anterior Horn Cell Disease
Paucity of anterior horn motor neurons
Lethal Arthrogryposis With Anterior Horn Cell Disease
Widening of cervical spinal canal
Abnormality of the anterior horn cell
Chondromatosis, Synovial
Synovial osteochondromatosis
Rhabdomyoma
Cutaneous sarcoidosis
Necrobiosis Lipoidica Diabeticorum
Single naris
Pituitary anomalies
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
Facial Dysmorphism with Multiple Malformations
Pituitary Hormone Deficiency, Combined, 1
Ectopic posterior pituitary
Underdeveloped tragus
CULLER-JONES SYNDROME
Hypoplasia of the premaxilla
Agenesis of incisor
Absence of incisors
Anterior pituitary agenesis
Abnormal prolactin level
Abnormality of secondary sexual hair
Decreased circulating ACTH level
Premaxillary retrusion
Missing incisors
Orofaciodigital Syndromes
Pulled elbow
Acne fulminans
Polysyndactyly
Congenital absence of tibia
Preductal coarctation of aorta
Urethrorectal fistula
Supernumerary metacarpal bone
Hypoplasia of the epiglottis
Orofaciodigital Syndrome I
Distal shortening of limbs
Recurrent upper and lower respiratory tract infections
Bilateral postaxial polydactyly
3-4 finger syndactyly
Polydactyly, preaxial 4
POSTAXIAL POLYDACTYLY, TYPE B
Acrocallosal syndrome, Schinzel type
POSTAXIAL POLYDACTYLY, TYPE A1/B
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE
1-5 toe syndactyly
Mesoaxial foot polydactyly
Mesoaxial hand polydactyly
Accessory oral frenulum
Abnormal basal ganglia MRI signal intensity
3-4 finger cutaneous syndactyly
Polydactyly affecting the 4th finger
Polydactyly affecting the 3rd finger
Distal urethral duplication
Secondary growth hormone deficiency
Dysplastic distal thumb phalanges with a central hole
Polydactyly, Postaxial, Type A1
Pulmonary aspiration
PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY
Actual Aspiration
HYPEREKPLEXIA 2
Hereditary Hyperekplexia
Other specified extrapyramidal and movement disorders
Giardiasis
Hyperleucinemia
Hyperinsulinemic hypoglycemia, familial, 6
Asymptomatic hyperammonemia
Solid pseudopapillary tumour of the pancreas
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
Subependymal cysts
Glutamine deficiency, congenital
Beta-Catenin-Activated Hepatocellular Adenoma
Tay-Sachs Disease, AB Variant
GM2-ganglioside accumulation
Abnormal involuntary eye movements
Myerson's sign
Glabellar reflex
Congenital hemangioma
Melanocytoma
Port-wine stain with oculocutaneous melanosis
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
Phakomatosis cesioflammea
Phakomatosis cesiomarmorata
Paroxysmal ventricular tachycardia
Inflammatory Bowel Disease 12
VENTRICULAR TACHYCARDIA, SOMATIC
ADRENOCORTICAL TUMOR, SOMATIC
Difficulty chewing
Mandibular condyle aplasia
Hypoplasia of mandibular condyle
Cleft at the superior portion of the pinna
Hypoplastic superior helix
Anterior open-bite malocclusion
Postauricular skin tag
Small condylar neck of mandible
Small condylar head of mandible
Hypotrophic mandibular condyle
Hypotrophic condylar process of mandible
Hypoplasia of condylar neck of mandible
Hypoplasia of condylar head of mandible
Underdevelopment of condylar neck of mandible
Failure of development of the condylar process of mandible
Failure of development of condylar neck of mandible
Failure of development of condylar head of mandible
Agenesis of condylar neck of mandible
Agenesis of condylar head of mandible
Absence of the condylar process of mandible
Absence of the condylar neck of mandible
Absence of the condylar head of mandible
Lingual dystonia
DYSTONIA 25
Parasomnia
Somnambulism
Sequoiosis
Progressive chorea
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17
NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
Hypomenorrhea
Nevus of Ota
Cellular Blue Nevus
Hemangioma of choroid
Primary Melanocytic Lesion of Meninges
Melanotic neurilemmoma
Facial hemangioma
Nevi flammei, familial multiple
Arachnoid hemangiomatosis
Calcinosis cutis
Fibrous Dysplasia, Monostotic
Phocomelia
Pseudohypoaldosteronism
Hypocalcemic tetany
Increased appetite (finding)
Osteodystrophy
Brachymetacarpia
Ectopic gastric tissue
Cryptogenic sexual precocity
Subclinical hypothyroidism
Idiopathic parathyroidism
Toxic thyroid adenoma
Thyrotoxicosis due to pituitary thyroid hormone resistance
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism
Macronodular adrenal hyperplasia
Biliary Intraepithelial Neoplasia
Multiple non-ossifying fibromatosis
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Cellular Myxoma
Pyloric Gland Adenoma
Sparsely Granulated Pituitary Gland Somatotroph Adenoma
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SOMATIC
Low urinary cyclic AMP response to PTH administration
Obesity Adverse Event
ACTH-independent hypercortisolemia
SEX CORD STROMAL TUMOR, SOMATIC
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
Increased serum insulin-like growth factor 1 {comment=HPO:probinson}
Hyperpotassemia and Hypertension, Familial
Pseudohypoparathyroidism Type 1C
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
Galactorrhea
Fibrous dysplasia of bone with intramuscular myxoma
Ectopic calcification
MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
Short fifth metatarsal
Broad 1st metacarpal
Large cafe-au-lait macules with irregular margins
Primary hypercorticolism
Ossifying fibroma of the jaw
PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES, SOMATIC
PITUITARY ADENOMA 3, ACTH-SECRETING, SOMATIC
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
PITUITARY ADENOMA 3, GROWTH HORMONE-SECRETING, SOMATIC
LATE-ONSET RETINAL DEGENERATION (disorder)
Night Blindness, Congenital Stationary, Autosomal Dominant 3
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
Color Blindness, Acquired
Color Blindness, Green
Progressive cone dystrophy (without rod involvement)
Color Blindness, Inherited
Monochromatopsia
ACHROMATOPSIA 4
Retinal cone dystrophy 2
Upper limb hypertonia
EEG with generalized epileptiform discharges
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
Abdominal symptom
Vasculogenic erectile dysfunction
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
Eunuchoidism, familial hypogonadotropic
Cerebellar Ataxia and Hypogonadotropic Hypogonadism
Staring
MPS III D
Heparan sulfate excretion in urine
Ovoid thoracolumbar vertebrae
Cellular metachromasia
Optic Neuropathy, Ischemic
Von Willebrand disease, platelet type
Intermittent thrombocytopenia
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type C
Deficiency of Platelet Glycoprotein 1b
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
BERNARD-SOULIER SYNDROME, TYPE A1
FNAITP
Abnormality of abdomen morphology
SEBASTIAN SYNDROME
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE
Hemorrhagic Fever, Argentinian
Hyperuricemic nephropathy
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Citrin deficiency
Acute arthritis
Kinsbourne Syndrome
Glycosylphosphatidylinositol deficiency
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Pigment gallstones
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Impaired neutrophil bactericidal activity
Spontaneous hemolytic crises
Cutaneous hypersensitivity
Organized pneumonia
Pleural plaque
REM Sleep Behavior Disorder
Chromosome 2q37 deletion syndrome
Palmar telangiectasia
Dilated superficial abdominal veins
Abnormal large intestine physiology
Elevated alkaline phosphatase of hepatic origin
Pancolitis
Undifferentiated spindle cell sarcoma
Hepatitis D, Chronic
Viral hepatitis, type G
MACULAR DYSTROPHY, ATYPICAL VITELLIFORM
Hepatitis B and hepatitis C
Decompensated liver disease
Keshan disease
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to
Cadmium poisoning
Flared ribs
Spondylometaphyseal dysplasia, Sedaghatian type
Focal lissencephaly
Large posterior fontanelle
Irregular tarsal bones
Iliac crest serration
Cupped ribs
Rhizomelic arm shortening
Widened sacrosciatic notch
Abnormality of the scapula
Visually threatening diabetic retinopathy
Decreased Libido
mass lesion
MENTAL RETARDATION, X-LINKED 94 (disorder)
Rasmussen subacute encephalitis
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
Agraphia
Alexia
Blunted affect
Perseveration
Lack of insight
Apraxic
Lipofuscinosis
Hyperorality
Progressive language deterioration
Repetitive compulsive behavior
Restrictive behavior, interests, and activities
CEROID LIPOFUSCINOSIS, NEURONAL, 11
Frontotemporal cerebral atrophy
Limb apraxia
EEG with continuous slow activity
Temporal cortical atrophy
Grammar-specific speech disorder
Spoken Word Recognition Deficit
Overdose of cocaine
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8
Agnosia
Cluttering
Aprosodia
Speech dysfunction
Landau-Kleffner Syndrome
Dysglossia
Rhinolalia
Verbal Fluency Disorders
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant
Dyslalia
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
Continuous spike and waves during slow sleep
EEG with centrotemporal focal spike waves
Allergy to eggs
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
Ovarian Reserve
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
Abnormality of skin morphology
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
Nelson Syndrome
Tissue sensitivity
Cushingoid facies
Serum testosterone level abnormal
Hemodynamic instability
Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance
BODY COMPOSITION, BENEFICIAL
Primary cortisol resistance
46, XX Disorders of Sex Development
GLUCOCORTICOID RESISTANCE, CELLULAR
Abnormal testosterone level
Increased urinary cortisol level
Hereditary glucocorticoid resistance
Chronic rhinosinusitis with nasal polyps
Malignant melanoma of lip
Malignant melanoma of skin of upper limb
Malignant melanoma of skin of lower limb
Myxofibroma
Malignant melanoma of ear and/or external auditory canal
Malignant melanoma of scalp and/or neck
Hypometric saccades
Malignant melanoma of skin of trunk, except scrotum
Retrocerebellar cyst
Inferior vermis hypoplasia
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
SPINOCEREBELLAR ATAXIA 44
Cowpox
Erythema Chronicum Migrans
Glossitis, Benign Migratory
Shock, Hemorrhagic
Auricular swelling
Small cell lung cancer recurrent
Autoimmune Hepatitis with Centrilobular Necrosis
Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type IV
Lattice corneal dystrophy Type II
Inherited systemic amyloidosis
Cerebral Amyloid Angiopathy, Gsn-Related
Bilateral facial muscle weakness
Calculus of kidney and ureter
Other alcohol-induced mental disorders
Glutamate-cysteine ligase deficiency
Gluthathione synthetase deficiency
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
Glyoxalase deficiency
Psychotic mentation
Aristolochic Acid Nephropathy
Neoplasms, Multiple Primary
Polymorphous light eruption
Non-arteritic ischemic optic neuropathy
Noise-induced temporary threshold shift
Deficiency of transferase
Esophageal Squamous Intraepithelial Neoplasia
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
Spondylo-ocular syndrome
Pleural Rub
Respiratory Sounds
Rhonchi
Cirrhosis, Cryptogenic
Complicated pneumoconiosis
Osteoporosis with pseudoglioma
Treatment-resistant schizophrenia
Deficiency of maleylacetoacetate isomerase
Sebaceous Gland Neoplasms
Neu-Laxova syndrome
Atypical adenoma
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, SOMATIC
Axillary freckling
Colorectal cancer, hereditary nonpolyposis, type 1
Mild intrauterine growth retardation
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
Thymic epithelial tumor
CEREBELLOFACIODENTAL SYNDROME
Learning problems
CONE DYSTROPHY 3 (disorder)
RETINITIS PIGMENTOSA 48
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 (finding)
MOYAMOYA DISEASE 6 WITH ACHALASIA
Meconium plug syndrome
Stage IIA Colon Cancer AJCC v7
DIARRHEA 6
INJECTED EYE
Chromosome 7, trisomy 7q
Necrotic tumor
J-shaped sella turcica
Proximal tapering of metacarpals
Thoracolumbar kyphosis
Anterior beaking of lower thoracic vertebrae
Urinary glycosaminoglycan excretion
Abnormality of the pleura
J-shaped hypophysial fossa
Omega shaped hypophysial fossa
Right bundle branch block
ST segment elevation (finding)
Inverted T wave
GLYCOGEN STORAGE DISEASE XV
POLYGLUCOSAN BODY MYOPATHY 2
Increased mitochondrial number
Decreased muscle glycogen content
Cardiomyocyte hypertrophy
Carcinogenesis, Radiation
Glycogen Storage Disease 0, Muscle
Glycogen synthase deficiency
Glycogen Storage Disease 0, Liver
Eye poking
CONE-ROD DYSTROPHY 1 (disorder)
Hyperthreoninemia
LEBER CONGENITAL AMAUROSIS 12 (disorder)
Fundus atrophy
Hyperthreoninuria
Chilblain lupus 1
Ectromelia
Epidermal necrosis
RAHMAN SYNDROME
polyp benign
Malignant Giant Cell Tumor of Bone
Brain Stem Glioblastoma
THYROID CANCER, NONMEDULLARY, 5
2-methyl-3-hydroxybutyric aciduria
Reye-Like Syndrome
Acute fatty liver of pregnancy
LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY
Trifunctional Protein Deficiency, Type 2
Hypoglycemic encephalopathy
Hyperinsulinemic Hypoglycemia, Familial, 4
Alpha-Methylacyl-CoA Racemase Deficiency
Abnormal acetylcarnitine profile
Abnormality of acetylcarnitine metabolism
Increased C-peptide level
Increased circulating free fatty acid level
Histidinuria renal tubular defect
Increased histidine
Gonadal dysgenesis XX type deafness
Usher Syndrome, Type III
Vestibular hypofunction
USHER SYNDROME, TYPE IIIB
Abnormality of cochlea
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
Hemoglobin E disease
delta beta^0^ Thalassemia
^A^gamma delta beta^0^ thalassemia
delta-Thalassemia
delta^0^ Thalassemia
alpha^0^ Thalassemia
alpha^+^ Thalassemia, deletion type
Hemoglobin E trait
Hemoglobin E/beta thalassemia disease
Heinz Body Anemias
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
beta Thalassemia, heterozygous
Alpha thalassemia intermedia
S-Beta Thalassemia
Dominant thalassemia
Bart's Hemoglobinopathy
Beta thalassemia minor
HEMOGLOBIN CONSTANT SPRING PHENOTYPE
ALPHA-THALASSEMIA, HMONG TYPE
Mastocytosis, Diffuse Cutaneous
Hemoglobin C Disease
Hemoglobin SC Disease
Carcinoma in situ of penis
Persistence of hemoglobin F
Hemoglobin D disease
Hemoglobin SD disease
Sickle cell-hemoglobin E disease
Renal carnitine transport defect
Facial wart
Hemoglobin Lepore trait
beta thalassemia major anemia
Sickle cell-Hemoglobin O Arab disease
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
Malar prominence
Beta Thalassemia, Dominant Inclusion Body Type
BETA-KNOSSOS-THALASSEMIA
BETA-MALAY-THALASSEMIA
BETA-SHOWA-YAKUSHIJI THALASSEMIA
BETA-PLUS-THALASSEMIA, DOMINANT
BETA-THALASSEMIA, LERMONTOV TYPE
Increased red cell sickling tendency
Abnormal bone structure
Hyperplasia of malar bones
Hemoglobin A2 measurement
DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE
DELTA-PLUS-THALASSEMIA
CYANOSIS, TRANSIENT NEONATAL
Epidural Abscess
Colpocephaly
Gillespie syndrome
Histiocytoid Cardiomyopathy
DIABETES MELLITUS, INSULIN-DEPENDENT, 8
Asymmetric, linear skin defects
Mesenteric Vascular Occlusion
Common Carotid Artery Thrombosis
External Carotid Artery Thrombosis
Internal Carotid Artery Thrombosis
Recurrent deep vein thrombosis
Post-angioplasty coronary artery restenosis
MENTAL RETARDATION, X-LINKED 3
Primary Hypersomnia
Burning sensation
Hallucinations, Hypnagogic
Hallucinations, Hypnapompic
Hypersomnolence
Hypersomnolence, Idiopathic
Hypersomnia, Post-Traumatic
Narcolepsy without cataplexy
Narcolepsy 1
Paroxysmal drowsiness
Narcolepsy type 1
Sulfate measurement
LOPES-MACIEL-RODAN SYNDROME
Benign Teratoma
Acute bronchitis
Nose symptoms
Acute intestinal obstruction
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
Juvenile GM 2 gangliosidosis
Amaurotic Familial Idiocy
Tay-Sachs Disease, Juvenile
Hexosaminidase A Deficiency, Adult Type
Gm2-Gangliosidosis, Adult Chronic Type
Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Pseudo-AB Variant
Hexosaminidase alpha-Subunit Deficiency (Variant B)
Gm2-Gangliosidosis, Variant B1
GM2-GANGLIOSIDOSIS, ADULT
GM2-GANGLIOSIDOSIS, CHRONIC
Adult Sandhoff Disease
Infantile Sandhoff Disease
Juvenile Sandhoff Disease
Sandhoff Disease, Adult Type
Sandhoff Disease, Juvenile Type
Sandhoff Disease, Infantile Type
Total Hexosaminidase Deficiency
Impaired thermal sensitivity
Abnormality of glycosphingolipid metabolism
Panuveitis
Tick-borne relapsing fever
Uveitis, Posterior
Photopsia
Pneumococcal sepsis
Amphetamine or related acting sympathomimetic abuse
Necrotizing glomerulonephritis
Complement abnormality
Verotoxigenic Escherichia coli gastrointestinal tract infection
Ocular sarcoidosis
Properdin deficiency disease
Complement factor H measurement
Hemopexin measurement
Chronic central serous chorioretinopathy
Diarrhea-negative hemolytic uremic syndrome
Renal disease (acute) NOS
Disease due to Neisseria
Multifocal choroiditis
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
HEMOLYTIC UREMIC SYNDROME, TYPICAL
Depletion of components of the alternative complement pathway
Decreased serum complement factor H
Reticular pseudodrusen
Retinal angiomatous proliferation
Complement Factor I (C3 inactivator) deficiency
Glomerular subendothelial electron-dense deposits
Hepatoerythropoietic Porphyria
Abnormal glucose tolerance
Neonatal hemochromatosis
Familial porphyria cutanea tarda
Uroporphyrinogen decarboxylase deficiency
Primary hypertriglyceridemia
arthritis symptoms
High-oxygen-affinity hemoglobin
HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 3
Porphyria Cutanea Tarda, Type I
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
Porphyria, South African type
Chronic active hepatitis C
CFHR5 DEFICIENCY
C3 glomerulopathy
Ochronosis
Rupture of tendon
Deformity of the nose
Congenital anomaly of nose
Ochronotic arthritis
Ochronotic arthropathy
Intervertebral disk calcification
Thickened Achilles tendon
Pigmentation of the sclera
Malformation of the nose
Ochronosis, hereditary
Calcification of cartilage
Wounds, Penetrating
Disorder of pregnancy
Rest pain
Ulcer of artery
Adhesion of intestine
Cutaneous neurofibroma
Fibrosis of urinary bladder
Hereditary Papillary Renal Carcinoma
Ovarian Small Cell Carcinoma, Hypercalcemic Type
DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)
Anaplastic Medulloblastoma
Chest--Diseases
Mouse Colon Adenocarcinoma
Hepatocyte Growth Factor Measurement
Manic psychosis
Radiation Injuries, Experimental
Cerebral Hypoxia-Ischemia
Hemangioma of liver
Acyanotic congenital heart disease
MYELOMA, ENDOTHELIAL
Multiple fibrofolliculomas
Septal hypertrophy
Retroperitoneal sarcoma
toe necrosis
Multiple Hemangioblastomas
Anoxic-Ischemic Encephalopathy
Anoxia-Ischemia, Brain
Anoxia-Ischemia, Cerebral
Hypoxia-Ischemia, Brain
Myocardial hypoxia
Spindle cell hemangioma
Epidermal growth factor receptor negative non-small cell lung cancer
Influenza A
Chromophobe carcinoma
Limb-girdle muscular dystrophy type 2H
Acquired Neuromyotonia
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
Deficiency of hexokinase (disorder)
Hemolytic anemia due to hexokinase deficiency
Neuropathy, hereditary motor and sensory, Russe type
Axonal regeneration
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
RETINITIS PIGMENTOSA 79
Aloof
Erythroderma, Maculopapular
Vitreous floaters
Malignant essential hypertension
Parakeratosis Variegata
Reflex Sympathetic Dystrophy
Trachoma
Secondary Sjögren's syndrome
Rapidly progressive periodontitis
Birdshot chorioretinitis
Dengue Shock Syndrome
Scarred macula
Erosive osteoarthrosis
Spots in front of eyes
Acute Generalized Exanthematous Pustulosis
pathergy
Chronic Adult T-Cell Leukemia/Lymphoma
EBV-Related Hodgkin Lymphoma
Lymphomatous Adult T-Cell Leukemia/Lymphoma
Smoldering Adult T-Cell Leukemia/Lymphoma
Vitreous debris
Birdshot chorioretinopathy
Vitreous veils
Polymorphic Reticulosis
Lumbar meningomyelocele
response to anticonvulsant
Oligoarticular Arthritis
Chorioretinal abnormality
Photoreceptor layer loss on macular OCT
Blind-spot enlargment
Glycosuria, Renal
Hemorrhagic Fever with Renal Syndrome
Hypertensive crisis
Pityriasis Rosea
Beta-2-microglobulin measurement
Juvenile Chronic Polyarthritis
Opticociliary vessels
back pain mechanical
Punctate palmoplantar keratoderma
Familial psoriasis
Erythema Multiforme Major
Pulmonary arterial hypertension associated with connective tissue disease
Intrathoracic Goiters
Retinal vascular occlusion
Psoriasis of nail
Halo nevus
Herpes simplex type 1 infection
Autoimmune vasculitis
ISS Stage I Plasma Cell Myeloma
C4 Deficiency
Severe T-cell immunodeficiency
dmac
Spinal meningocele
Meningocele
Perianal abscess
Rectovaginal Fistula
Anal Fistula
Gastrointestinal obstruction
Stricture of anus
Caudal Regression Syndrome
Sacral agenesis
Sacrococcygeal teratoma
Congenital meningocele
Currarino triad
Sacral Agenesis Syndrome
Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation
Anterior sacral meningocele
Poorly Differentiated Hepatocellular Carcinoma
Aplasia/Hypoplasia of the sacrum
Pauciarticular juvenile rheumatoid arthritis
TUNGSTEN-CARBIDE DISEASE
Coxitis
Infection of ear
Granulomatous disorder
Chronic iridocyclitis
Occult chronic type B viral hepatitis
Megaesophagus
Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related
Low IQ
Idiopathic achalasia of esophagus
Podoconiosis
Localized vitiligo
Tubulointerstitial nephritis and uveitis
Mycobacterium tuberculosis, susceptibility to infection by
Fibrocalculous pancreatic diabetes
Pathological Dilatation
Antibody measurement (procedure)
Borderline lepromatous leprosy
Varicella Zoster Virus Infection
Allergy to fruit
Recurrent respiratory papillomatosis
Allergic fungal sinusitis
Celiac disease in children
Allergy to penicillin
C4 complement assay (procedure)
Papulopustular Rosacea
Perifollicular hyperkeratosis
Graham Little Piccardi Lassueur syndrome
Folliculitis
Iritis
Borderline leprosy
Lichen planus follicularis
Whipple Disease
Polymyalgia Rheumatica
Rheumatoid Nodule
Uveoparotid Fever
Renal vasculitis
Infections, Parvovirus
Tuberculosis, Multidrug-Resistant
ankle arthritis
Alopecia totalis
Actinic prurigo
Quadriceps weakness
lupus cutaneous
polyglandular failure
Scleroderma renal crisis
Post-streptococcal reactive arthritis
Necrotizing vasculitis
Undifferentiated inflammatory arthritis
IgE-mediated allergic asthma
Temporal Arteritis
chronic lyme disease
Left sided colitis
Sclerosing lymphocytic lobulitis
Macrophagic myofasciitis
Post-Treatment Lyme Disease Syndrome
Acute Motor Axonal Neuropathy
Increase in T cell count
Chronic calcifying pancreatitis
Undifferentiated spondyloarthropathy
Disorders of Excessive Somnolence
Glaucomatocyclitic crisis
Biotin deficiency disease
Chester-type porphyria
Homozygous acute intermittent porphyria
Moody (finding)
Porphyric polyneuropathy
Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency
Systemic Vasculitis
Neointimal hyperplasia
Microphthalmia and mental deficiency
MICROPHTHALMIA, SYNDROMIC 13
Microphthalmos co-occurrent with congenital ocular coloboma
Hydroxymethylglutaric aciduria
3-Methylglutaric aciduria
Sitosterolemia
Hepatitis, Chronic, Drug-Induced
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
Necrotizing myopathy
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Hemangioma of spleen
Neuroendocrine carcinoma, grade 1
Undifferentiated large cell carcinoma
Vasospasm, Intracranial
Chronic myocarditis
Neuropathogenesis
Heme Oxygenase 1 Deficiency
Pancreatitis, Graft
Inflammatory disease of the central nervous system
Microphakia
Oculoauricular Syndrome
Onchocerciasis, Ocular
Hypouricemia
Maturity-Onset Diabetes of the Young, Type 1
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
Fatty acids abnormal
Abnormality of fatty-acid metabolism
Hyperinsulinism due to HNF4A deficiency
ASTHMA, SUSCEPTIBILITY TO (finding)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
Chondromatosis
AMYOTROPHIC LATERAL SCLEROSIS 20
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3
Muscle fiber inclusion bodies
Ubiquitin-positive cerebral inclusion bodies
Abnormality of the abdominal musculature
Muscle fiber atrophy
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
Sparse lateral eyebrow
Wide nasal ridge
AU-KLINE SYNDROME
Exaggerated cupid's bow
1q44 microdeletion syndrome
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54
Aneuploidy
Neuronal Intestinal Dysplasia, Type B
Hand foot uterus syndrome
Athabaskan brainstem dysgenesis
Bosley-Salih-Alorainy Syndrome
Abnormal cerebral artery morphology
Microtia, Hearing Impairment, And Cleft Palate
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
Thrombocytopenia-Absent Radius Syndrome
Pelvic prolapse
Megakaryocytopenia
Proximal radio-ulnar synostosis
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
Congenital duplication of uterus
Hypospadias, balanic
Other doubling of uterus
Longitudinal vaginal septum
Pseudoepiphyses
Short first metatarsal
Delayed tarsal ossification
Preaxial deficiency, postaxial polydactyly and hypospadias
Septate uterus, complete or partial
Short 2nd toe
Hypoplastic fifth toenail
Delayed ankle bone maturation
Facial paresis, hereditary, congenital
FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Trichotillomania
Grade 1 Colon Adenocarcinoma
Ectodermal Dysplasia, Pure Hair-Nail Type
ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
Mesomelic dysplasia
Lower Extremity Deformities, Congenital
Congenital vertical talus, bilateral
Equinus calcaneus
BRACHYDACTYLY, TYPE D
Brachydactyly syndrome type E
Persistent umbilical sinus
VACTERL Association
4-5 toe syndactyly
Mesoaxial polydactyly
BRACHYDACTYLY-SYNDACTYLY SYNDROME
Fused fourth and fifth metacarpals
Syndactyly, type v
Absent distal interphalangeal creases
Enlarged proximal interphalangeal joints
6 metacarpals
Y-shaped metacarpals
2nd-5th toe middle phalangeal hypoplasia
Syndactyly, Type I
Brachymesophalangy 2 and 5
Contracture of the proximal interphalangeal joint of the 5th finger
Broad distal phalanx of the hallux
Straight clavicles
Syndactyly type 1
BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME
Ascorbic Acid Deficiency
Food Poisoning
Scurvy
Cerebral salt-wasting syndrome
Transient hypertension of pregnancy
Foodborne Disease
carotid disease
ANHAPTOGLOBINEMIA
HYPOHAPTOGLOBINEMIA (disorder)
Venezuelan equine encephalomyelitis
Buruli Ulcer
skin irritant
4-Hydroxyphenylpyruvic aciduria
4-hydroxyphenylacetic aciduria
Hawkinsinuria
Abnormality of tyrosine metabolism
Hypertrophic osteoarthropathy
Cutis verticis gyrata
Hereditary clubbing
Malignant epithelioma
Mottled pigmentation
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
CRANIOOSTEOARTHROPATHY
Reginato Schiapachasse syndrome
Clubbing of toes
Stippled pigmentation
Scalp folds
Thickening of the scalp
Podagra
Disorder of purine metabolism
Lesch-Nyhan Syndrome, Neurologic Variant
Alcohol consumption during pregnancy
Inflammation of large intestine
Freckles in sun-exposed areas
Usher syndrome, type 1B
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
Compartment syndromes
Plantar wart
Malignant neoplasm of spleen
Trichilemmoma
Microfollicular adenoma
Nevus spilus
Inflammatory linear verrucous epidermal nevus
Cerebellar Glioblastoma
GIANT PIGMENTED HAIRY NEVUS
NOONAN SYNDROME 3
Abnormality of finger
Abnormality of toe
Phacomatosis pigmentokeratotica
Linear Verrucous Epidermal Nevus
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
COSTELLO SYNDROME, SEVERE
Asymmetric growth
THYROID CANCER, NONMEDULLARY, 2
Asymmetry of head
Malformation of head shape
Malformation of cranium shape
Malformation of cranial vault shape
Abnormality of head shape
Abnormality of cranium shape
Abnormality of cranial vault shape
Recurrent thromboembolic disease
Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency
Thrombophilia Due To Elevated Histidine-Rich Glycoprotein
Estrogen Receptor Measurement
Recurrent thromboembolism
Chiari-Frommel Syndrome
Exaggerated placental site
3 beta-Hydroxysteroid dehydrogenase deficiency
Absent scrotum
Abnormal oral glucose tolerance
Adrenal hyperplasia 2
Hypothalamic obesity
Mineralocorticoid Excess Syndrome, Apparent
Cortisone reductase deficiency
CORTISONE REDUCTASE DEFICIENCY 2
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
Cortisol 11-beta-ketoreductase deficiency
End stage renal disease due to hypertension
APPARENT MINERALOCORTICOID EXCESS, MILD
Sertoli-Leydig cell tumor of ovary
Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency
Abnormality of the urethra
Adrenoleukodystrophy, Neonatal
Benign congenital hypotonia
Deficiency of enoyl-CoA hydratase
Zellweger-Like Syndrome
Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Single
Pseudo-Zellweger syndrome
Calcific stippling
Cerebral dysmyelination
Limited extraocular movements
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
White matter dysmyelination/demyelination
Generalized cerebral atrophy/hypoplasia
CATARACT 5, MULTIPLE TYPES
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T
Pretibial myxedema
Heat Cramps
Heat Stress Disorders
Enterocutaneous Fistula
Sarcoid uveitis
Stress Disorders, Traumatic
Trichinellosis
Atrophy, Disuse
Disorder characterized by fever
Infection by larvae of Trichinella spiralis
Familial juvenile gout
Hepatoma resectable
Familial encephalopathy with neuroserpin inclusion bodies
Infection by Wuchereria bancrofti
Adult Extraskeletal Myxoid Chondrosarcoma
Disorder of cellular component of blood
Anemia, Sideroblastic, Autosomal Dominant
Dysplasia of the femoral head
EVEN-PLUS SYNDROME
ANEMIA, SIDEROBLASTIC, 4
Autosomal recessive sideroblastic anemia
Abnormality of femoral head development
Effects of heat
Upper motor neuron signs
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
Spinal muscular atrophy, Jerash type
Limb fasciculations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Hereditary Motor Neuronopathy
Distal Hereditary Motor Neuropathy, Type II
Chronic axonal neuropathy
EMG: chronic denervation signs
Paresis of extensor muscles of the big toe
Intestinal Diseases, Parasitic
Protozoan Infections
Sighing respiration
Secondary malignant neoplasm of vertebral column
B-cell lymphoma refractory
Protozoan diseases
Lacrimal mucocele
Atresia of nasolacrimal duct
LACRIMAL DUCT DEFECT
Cat-Scratch Disease
Nocardia Infections
Oroya Fever
Urgency of micturition
Infectious gastroenteritis
Hyperreflexia in upper limbs
Impaired vibration sensation in the lower limbs
Spastic paraplegia 13, autosomal dominant
Leukodystrophy, Hypomyelinating, 4
Urgency frequency syndrome
Arthritis in animals
Tuberculosis, Spinal
Pseudocyst
Flexion contracture-shoulder
Pursed lips
Long eyelashes in irregular rows
Anterior bowing of long bones
Dyssegmental dysplasia
Elevated aldolase level
Abnormality of femoral epiphysis
Calvarial skull defect
Thyroid tumor metastasis
Calvarial defect
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
Fryns syndrome
Oculocutaneous albinism type 2
Angiosarcoma non-metastatic
Tumor stage mycosis fungoides
Primary Lymphoma of Bone
22q13.3 Deletion Syndrome
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT
Leukemia, Radiation-Induced
Cluster C personality disorder
Panic disorder with agoraphobia
depression anxiety disorder
emotional dysfunction
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
Offensive aggression
Peripheral neuropathic pain
Sleep Bruxism
Prodromal States
Heart Valve Prolapse
Hallucinosis
Disturbance in mood
System disorder of the nervous system
Periostitis
Vulvar Diseases
Adult Ependymoma
Newly Diagnosed Childhood Ependymoma
DEAFNESS, AUTOSOMAL DOMINANT 56
Hyaluronidase Deficiency
Abnormality of the acetabulum
Invasive listeriosis
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
Arthropathy associated with infection
Acidosis, Respiratory
Bronchopulmonary Sequestration
Stasis dermatitis
Erysipelothrix infection
Keratopathy
Primary Graft Dysfunction
Visual Manifestations
MALARIA, CEREBRAL, SUSCEPTIBILITY TO (finding)
Landsteiner-Wiener phenotype
Congenital macroglossia
Myelocytic leukemia-like syndrome, familial, chronic
IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32B
Chronic eczema
DIABETES MELLITUS, INSULIN-DEPENDENT, 7
Maffucci Syndrome
Hemangioma, Intramuscular
Adult Undifferentiated Pleomorphic Sarcoma
Chondroblastic osteosarcoma
Chorioangioma
Chromosome 8, trisomy 8p
Adult Diffuse Astrocytoma
Clear Cell Hepatocellular Carcinoma
Hemangiomatosis
Neurocytoma
METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA
Proneural Glioblastoma
GLIOBLASTOMA MULTIFORME, SOMATIC
Diffuse Glioma
Grade II Glioma
Telangiectatic osteosarcoma
D-2-HYDROXYGLUTARIC ACIDURIA 2
D-2-HYDROXYGLUTARIC ACIDURIA 1
Pseudocoloboma
Retinitis Pigmentosa 46
Hunter's syndrome, severe form
Hunter's syndrome, mild form
PAROXYSMAL EXTREME PAIN DISORDER
Sulfoiduronate Sulfatase Deficiency
Mucopolysaccharidosis V
Hurler-Scheie Syndrome
alpha-L-Iduronidase Deficiency
Nasal inflammation
Migrating partial seizures in infancy
IDUA PSEUDODEFICIENCY
Leukoencephalitis, Acute Hemorrhagic
Recurrent streptococcus pneumoniae infections
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
MACULAR DEGENERATION, AGE-RELATED, 13
Recurrent Haemophilus influenzae infections
Encapsulated Thymoma
Barretts esophagus with high grade dysplasia
Hepatic venoocclusive disease with immunodeficiency
Acute bronchiolitis
Vipoma
Endometritis
Erythromelalgia
Malignant Vaginal Neoplasm
Vaginal Neoplasms
Pestivirus Infections
Paresthesia, Distal
Secondary bacterial pneumonia
Disseminated due to other mycobacteria
Influenza A virus infection
MYD88 Deficiency
Tuberculous pleural effusion
Extended Oligoarticular Juvenile Idiopathic Arthritis
Somatoform Disorder
Tinnitus, Subjective
Tinnitus, Objective
Specific viral infections
Tinnitus, Noise Induced
Tinnitus of Vascular Origin
Somatization Disorder
Tinnitus, Clicking
Tinnitus, Leudet
Tinnitus, Spontaneous Oto-Acoustic Emission
Tinnitus, Tensor Palatini Induced
Tinnitus, Tensor Tympani Induced
Posterior Ischemic Optic Neuropathy
Colicky Pain
Bluetongue infection
HEPATITIS B VIRUS, SUSCEPTIBILITY TO
Disseminated Bacillus Calmette-Guerin infection
IMMUNODEFICIENCY 45
IMMUNODEFICIENCY 44
Multiple Sclerosis, Secondary Progressive
Cytokine storm
Sendai virus infection
Flu-Like Syndrome Adverse Event
Chronic total occlusion of coronary artery
Neutrophilic asthma
Acute alcoholic liver disease
Acute and subacute liver necrosis (disorder)
Arthritis, Viral
Boutonneuse Fever
Chagas' disease without mention of organ involvement
Chorioretinitis
Dermatophytosis
Entamoebiasis
Joint Tuberculosis
Salmonella Infections, Animal
Schistosomiasis japonica
Spirochaetales Infections
Tinea
Infection by Trichuris trichiura
Tuberculosis, Female Genital
Secondary generalized epilepsy
Chronic tonsillitis
Echinococcus granulosus infection
Anatomical narrow angle glaucoma
Inhalational anthrax
Panarteritis
Popliteal pterygium syndrome
Typhlocolitis
SLE glomerulonephritis syndrome, WHO class IV
Coprophilia (disorder)
Primary bacterial peritonitis
Disseminated coccidioidomycosis
Zoonotic form of cutaneous leishmaniasis
Radicular pain
DS Stage I Plasma Cell Myeloma
Air cyst
Leprosy neuropathy
Pontiac Fever
Drug-induced erythema multiforme
Viral respiratory infection
Acute pneumonia
Inactive tuberculosis of lung
Peritoneal infections
Ruptured Appendicitis
latent infection
BK virus infection
Gastric infection
Neuroma, Acoustic, Bilateral
Fatal infectious mononucleosis
Secondary angle-closure glaucoma - synechial
Congo hemorrhagic fever
Localized Primitive Neuroectodermal Tumor
Mycobacterium leprae infection
Polio and Post-Polio Syndrome
Leprosy, Multibacillary
Arthritis, Bacterial
ADRENOCORTICAL CARCINOMA, HEREDITARY
Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
Pulmonary Aspergillosis
Bronchopulmonary Aspergillosis
Bronchiolitis, Exudative
Bronchiolitis, Proliferative
Polycystic kidney disease, type 2
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
Arthritis, Suppurative
Entamoeba histolytica Infection
Mycobacterium Infections, Nontuberculous
Salmonella osteomyelitis
Primary tuberculosis
Generalized enlarged lymph nodes
Atypical Mycobacterial Infection, Disseminated
Interferon gamma receptor deficiency
Mycobacterium abscessus Infection
Interferon gamma, receptor 1, deficiency
Atypical Mycobacteriosis, Familial
IMMUNODEFICIENCY 27A
IMMUNODEFICIENCY 27B
IFN-gamma Receptor 1 Deficiency
Disseminated squamous cell carcinoma
IMMUNODEFICIENCY 28
SPINOCEREBELLAR ATAXIA 18
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
Broad neck
Demyelination
Emaciation
Placenta Disorders
Premenstrual syndrome
Megaloblastic anemia due to folate deficiency
Benign neoplasm of uterus
Gastroparesis due to diabetes mellitus
Stenosis of intestine
Overproduction of growth hormone
Rabson-Mendenhall Syndrome
Pituitary macroadenoma
Osteodysplasia
Small placenta
Insulin hypoglycemia
Malignant Smooth Muscle Neoplasm
Axial myopia
Severe intrauterine growth retardation
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA
Inflammatory acne
Clinically Isolated Syndrome, CNS Demyelinating
Acid-Labile Subunit Deficiency
Transient edema
Malignant neoplasm of muscle
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
Islet Cell Adenoma
Klippel-Trenaunay-Weber Syndrome
Hemangiopericytoma of meninges
prenatal alcohol exposure
Non-involuting congenital hemangioma
Rapidly involuting congenital hemangioma
Abnormality of the ureter
DIABETES MELLITUS, INSULIN-DEPENDENT, 2
Experimental Organism Islet Cell Adenoma Neoplasm
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
diabetes (mellitus) due to autoimmune process
diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction
idiopathic diabetes (mellitus)
Microglial nodules
Vaginitis
Endemic Diseases
Persian Gulf Syndrome
Mild postnatal growth retardation
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
Insulin insensitivity
Mild growth deficiency
Gluten intolerance
Reduced insulin like growth factor binding protein acid labile subunit level
Insulin resistance in diabetes
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Hyperplasia of pancreatic islet beta cell
Childhood Malignant Liver Neoplasm
Adrenal neuroblastoma
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS
Retinal arterial macroaneurysms
ATRIAL SEPTAL DEFECT 1
ASD I
Atrial Septal Defect, Secundum Type
ASD II
Linitis Plastica
Malignant lymphomatous polyposis
Immunoglobulin G2 deficiency
gastric ulcer benign
Colon Mucosa-Associated Lymphoid Tissue Lymphoma
Small Lymphocytic Lymphoma with Plasmacytoid Differentiation
Low Grade B-Cell Non-Hodgkin's Lymphoma
Urethritis
Immunoglobulin A2 deficiency
Myositis, Infectious
Myositis, Proliferative
Myositis, Focal
Laboratory animal dander allergy (disorder)
Kappa-Chain Deficiency
Immunoglobulin G3 deficiency
Inspiratory stridor
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
Denervation of the diaphragm
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
Ventilator dependence with inability to wean
Peripheral axonal degeneration
Allergic diarrhea
Abnormal immunoglobulin level
Congenital absence of hand
Congenital defect of skull and scalp
ADAMS-OLIVER SYNDROME 3
Absent toe
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE
Myxedema, Congenital
Congenital bilateral ptosis
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT
Craniosynostosis, Philadelphia Type
Acrocapitofemoral Dysplasia
Enlargement of the distal femoral epiphysis
Cone-shaped capital femoral epiphysis
Thin proximal phalanges with broad epiphyses
Proportionate shortening of all digits
Terminal symphalangism of hands
Short proximal phalanx of hallux
Fibular overgrowth
Cone-shaped epiphysis of the 1st metacarpal
Radial deviation of the 4th finger
Slender metacarpals
Thin proximal phalanges with broad epiphyses of the hand
Broad metacarpal epiphyses
Flattened metatarsal heads
Direct Hyperbilirubinemia, Neonatal
Indirect Hyperbilirubinemia, Neonatal
Lung Melanoma
IMMUNODEFICIENCY 15
Infection of amniotic cavity
Burn injury
Chronic anterior uveitis
Pustular psoriasis
Megaconial Myopathies
Pleoconial Myopathies
Unicystic ameloblastoma
Pleural infection
Luft Disease
Arthrofibrosis
Funisitis (disorder)
Abdominal bloating
Majeed syndrome
INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
Dental plaque induced gingivitis
Achlorhydria
Bursitis
Periapical Diseases
Periodontal Pocket
Tuberculosis, Miliary
Cervical lymphadenitis
Proliferative synovitis
Acute upper respiratory infection
Eosinophilic colitis
Q fever endocarditis
Fatigue - symptom
Subacromial bursitis
iron loading anemia
Bacterial keratitis
Intestinal Graft Versus Host Disease
Systemic granulomatous disease
Infection - suppurative
Autoinflammatory disease
Methamphetamine intoxication
BREAST PAIN FEMALE
Idiopathic acute pancreatitis
Henoch-Schönlein nephritis
Corneal melt
Snowflake vitreoretinal degeneration
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding)
Malaise and fatigue
Scleritis
Tuberculosis, Laryngeal
Fever with chills
Persistent lymphocytosis
Cardiac sarcoidosis
Episodic Cluster Headache
Thymic alymphoplasia
Cells in urine
Lymphocytic alveolitis
Interleukin 2 Receptor, Alpha, Deficiency of
Uveitis, Intermediate
Milk Allergy
Villous atrophy of intestine
Evans syndrome
Tuberculosis of intestines
Autoimmune enteropathy
Hairy cell leukemia variant
Villous atrophy
Small intestine biopsy shows villous atrophy
Variable degree of villous atrophy
DIABETES MELLITUS, INSULIN-DEPENDENT, 10
Duodenal villous atrophy
Biopsy shows villous atrophy
Recurrent bacterial meningitis
Severe combined immunodeficiency, atypical
Cataract, Variable Zonular Pulverulent
Chronic oral candidiasis
Acute endocarditis
Mikulicz Disease
Tuberculosis, Bovine
Hantavirus Pulmonary Syndrome
Embolic stroke
Seasonal allergic conjunctivitis
Chronic disseminated candidiasis
Juvenile spondyloarthropathy
hydatids
Candidiasis, Vulvovaginal
neurological disability
Deafness, Sudden
Eosinophilic gastroenteritis
fertility disorders
Allergic Bronchopulmonary Mycosis
ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO
ATOPY, SUSCEPTIBILITY TO (finding)
Arthropathy, Erosive
Cryptogenic pulmonary eosinophilia
Kimura Disease
Familial eosinophilia
Idiopathic eosinophilia
Wells syndrome
Nicolaides Baraitser syndrome
Respiratory infections in children
Dysentery
Pain in lower limb
Ear Inflammation
Retinal Artery Occlusion
Acute Cholecystitis
Bone marrow depression
Lichenoid Eruptions
Relative erythrocytosis
Steroid withdrawal syndrome
Shoulder stiff
Bone Demineralization, Pathologic
Interphalangeal osteoarthritis
Cytomegaloviral pneumonia
Simple pneumoconiosis
Carcinoma ex pleomorphic adenoma of lacrimal gland
Sepsis of the newborn
Gallstone pancreatitis
Influenza-like illness
Intracranial Arteriovenous Malformation, Ruptured
Cystic Periventricular Leukomalacia
Myeloma, malignant
fluid retention in lung
Engraftment syndrome
HIV-Associated Lipodystrophy Syndrome
Angiofollicular Lymphoid Hyperplasia, Hyaline-Vascular Type
Blast cell leukemia
Cancer cachexia
ASTHMA AND NASAL POLYPS
Rheumatoid Arthritis, Systemic Juvenile
Chronic kidney disease stage 4
Digestive System Neuroendocrine Tumor
LEPTIN RECEPTOR DEFICIENCY
Discogenic pain
Bacterial sepsis of newborn
Localized Angiofollicular Lymphoid Hyperplasia
Inflammation of fetal umbilical artery
Left main coronary artery disease
INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS
Inflammatory Hepatocellular Adenoma
Failure to thrive secondary to recurrent infections
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Bronchial Diseases
Bronchiolitis, Viral
Eye Infections, Bacterial
Megakaryocytic hyperplasia
Pain, Intractable
Gram-Positive Bacterial Infections
Myocardial Preinfarction Syndrome
Staphylococcal bacteraemia
Clostridium difficile diarrhea
Bronchiolitis Obliterans Organizing Pneumonia
Acute gastric mucosal erosion
eosinophilic syndrome
Craniodiaphyseal dysplasia
Group A Streptococcal Infections
diarrhea persistent
Recurrent pyelonephritis
VAGINOSIS
Staphylococcus aureus endocarditis
Splenic sequestration
Rhinorrhea
Dysentery, Bacillary
Idiopathic erosive/hemorrhagic gastritis
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
Ulcerative colitis in remission
Diarrhea in children
Erosive gastritis
DIARRHEA 7
Acute cystitis
Anterior uveitis idiopathic
Cystitis and urethritis
Fungemia
Intestinal schistosomiasis
Eales disease
Blindness of one eye (disorder)
Lyme carditis
Recurrent acute otitis media
Punctate inner choroidopathy
Postoperative pneumonia
Necrotic melanoma
Early onset psoriasis type 1
manifestations of immunopathology
Atopic IgE-mediated allergic disorder
Generalized chronic periodontitis
Acute Bacterial Prostatitis
Asymptomatic Inflammatory Prostatitis
Chronic Bacterial Prostatitis
Chronic Prostatitis with Chronic Pelvic Pain Syndrome
Endotoxin Hyporesponsiveness
Eumycetoma
Chronic malaria
Nonsyndromic Holoprosencephaly
Bronchitis in children
Persistent Oligoarticular Juvenile Idiopathic Arthritis
Contrast - Induced Nephropathy
trachomatis
INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
INFLAMMATORY BOWEL DISEASE 28
INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
Abnormality of the intrahepatic bile duct
Abnormality of lipid metabolism
Sterile keratitis
IMMUNODEFICIENCY 29
Adenitis
Acute miliary tuberculosis
IMMUNODEFICIENCY 30
Schistosoma hematobium infection
Parainfluenza Virus Infections
Oculorespiratory syndrome
irregular bleeding
Pneumonia due to methicillin resistant Staphylococcus aureus
Interleukin 16 Measurement
Plague
Infantile Colic
Plasmodium vivax infection
Crossed Polydactyly, Type I
Adiponectin Deficiency
Dianzani autoimmune lymphoproliferative syndrome
Perceptual Disorders
Transient erythroblastopenia of childhood
Spastic cerebral palsy
renal obstruction
Locally advanced breast cancer
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
vascular ischemia
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59
Deficiency of phosphoglycerate kinase
LEBER CONGENITAL AMAUROSIS 11
Retinitis Pigmentosa 7
Retinitis Pigmentosa 10
Phosphoglycerate Kinase 1 Deficiency
Undetectable light- and dark-adapted electroretinogram
IMPDH2 ENZYME ACTIVITY, VARIATION IN
Moderate visual impairment
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
Juvenile-Onset Vitelliform Macular Dystrophy
MACULAR DYSTROPHY, VITELLIFORM, 4
Vitelliform-like macular lesions
MSI-high
Formication
Kandinsky Syndrome
Ventricular Outflow Obstruction, Left
Organic Brain Syndrome, Nonpsychotic
Organic Mental Disorders, Psychotic
Psychoses, Traumatic
Ventricular Outflow Obstruction
MPTP Poisoning
Thiamine-responsive megaloblastic anemia
Low renal threshold for glucose
Soft tissue mass
Painful Paresthesias
MPTP-Induced Degeneration of the Striatum
Non-insulin-dependent diabetes mellitus with unspecified complications
Maturity-onset diabetes of the young, type 10
Pre-Gestational Diabetes
Hooked clavicle
Schneckenbecken dysplasia
Opsismodysplasia
Squared iliac bones
Increased fibular diameter
Ectopic adrenal cortex
Leydig cell neoplasia
Hypertrophy of nail
Insulin Receptor, Defect in
Type 2 diabetes mellitus with acanthosis nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Gross obesity
Thick nasal alae
Prominent nipples
Hyperinsulinemic Hypoglycemia, Familial, 5
Adipose tissue loss
Chronic cholangitis
Type 2 diabetes mellitus in nonobese
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)
Pancreatic Agenesis, Congenital
Congenital lactic acidosis
Royer Syndrome
Gross motor impairment
Narrow palm
Pleuropneumonia
Herlitz Disease
Elevated maternal serum alpha-fetoprotein
Inherited epidermolysis bullosa
Junctional split
Aplasia of the bladder
INFLAMMATORY BOWEL DISEASE 5
Herpetic Acute Necrotizing Encephalitis
Herpetic meningoencephalitis
Infection of kidney
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7
Cold intolerance
Myotonia Fluctuans (disorder)
Pagetoid reticulosis
Skin-Hair-Eye Pigmentation, Variation In, 8
Newcastle Disease
Lymphocystis disease
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
Inflammatory Bowel Disease 14
Ankyloblepharon
Lip pit
Cleft lip and alveolus
Ankyloblepharon filiforme adnatum
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
Lower lip pit
Fibrous syngnathia
Pyramidal skinfold extending from the base to the top of the nails
IMMUNODEFICIENCY 39
body fat percentage (physical finding)
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
Abnormality of the clitoris
Phimosis
Chronic pyelonephritis
Alloimmune thrombocytopenia
Glycoprotein IA Deficiency
Other primary thrombocytopenia
Glanzmann Thrombasthenia, Autosomal Dominant
Qualitative platelet disorder
Glanzmann Thrombasthenia, Type A
Decreased platelet glycoprotein IIb-IIIa
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Glaucoma, Neovascular
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Fatty replacement of skeletal muscle
Chylothorax
Chronic lymphoproliferative disease NOS
Dental caries of smooth surface
Splenic atrophy
Leukocyte Disorders
Chronic dermatitis
Upper limb ischemia
Subgingival plaque
Recurrent staphylococcal infections
Recurrent gram-negative bacterial infections
Hip Fractures
Intertrochanteric Fractures
Subtrochanteric Fractures
Trochanteric Fractures
Abdominal aortic atherosclerosis
Neonatal alloimmune thrombocytopenia (NAIT)
Epidermolysis Bullosa Herpetiformis Dowling-Meara
Weber-Cockayne Syndrome
Other epidermolysis bullosa
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the stomach
Amelogenesis Imperfecta, Type III
Nance-Horan syndrome
Yellow-brown discoloration of the teeth
AMELOGENESIS IMPERFECTA, TYPE IH
Mitochondrial pathology
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
LYMPHOPROLIFERATIVE SYNDROME 1
Congenital disorder of glycosylation type 1w
Abnormal glycosylation
Inosine Triphosphatase Deficiency
response to ribavirin
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
Anoxic Encephalopathy
Congenital non-progressive ataxia
Anoxia of brain
Hypoxic Brain Damage
Brain Hypoxia
SPINOCEREBELLAR ATAXIA 15
Sporadic olivopontocerebellar atrophy
Spinocerebellar ataxia type 29
ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS
Generalized anhidrosis
Acrodermatitis
Gianotti-Crosti Syndrome
ISOVALERIC ACIDEMIA, TYPE I
Erythrodermic lamellar ichthyosis
Grade II Meningioma
Leukemia, Acute, X-Linked
Leukoerythroblastic Anemia
Subacute lymphoid leukemia
Florid red complexion (finding)
anemia hemoglobin
Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Mediastinal Lymphoma
Peripheral thrombosis
Increased red blood cell mass
Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2
THROMBOCYTHEMIA 3
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
Inherited predisposition to essential thrombocythemia
Familial thrombocytosis
Mediastinal Neoplasms
Mucocele
Abnormality of the lymph nodes
Malignant tumor of mediastinum
Autosomal recessive SCID
Severe combined immunodeficiency with low or normal B-cell numbers
Osteomyelitis of vertebra
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Cutaneous anergy
Meckel-Gruber syndrome
Minamata Disease
Inorganic Mercury Poisoning
Mercury Poisoning, Organic
Mercury Poisoning, Nervous System
Mercury Encephalopathy
Mad Hatter Disease
Mercurial Neuroanesthenia
Mercury Psychosis
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Renal dysgenesis
Leydig cell insensitivity to gonadotropin
Decreased circulating follicle stimulating hormone level
Decreased circulating luteinizing hormone level
Secondary malignant neoplasm of prostate
KUFOR-RAKEB SYNDROME
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
DEAFNESS, AUTOSOMAL RECESSIVE 89
Congenital visual impairment
Benign neonatal epilepsy
Continuous Muscle Fiber Activity, Hereditary
Myokymia 1
MYOKYMIA 1 WITH HYPOMAGNESEMIA
Isolated autosomal dominant hypomagnesemia Glaudemans type
Other generalized epilepsy and epileptic syndromes
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
Convulsions in the newborn
Spinocerebellar ataxia 13
SeSAME syndrome
KEPPEN-LUBINSKY SYNDROME
Familial hyperaldosteronism type 3
Autosomal dominant tubulointerstitial kidney disease
Atrial Fibrillation, Familial, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPSY, PROGRESSIVE MYOCLONIC 7
Jerky ocular pursuit movements
Periodic ataxia
Spinocerebellar ataxia 19
Gaze-evoked horizontal nystagmus
Spinocerebellar ataxia 22
Intermittent microsaccadic pursuits
BRUGADA SYNDROME 9
Noise-induced hearing loss
Chronic hypokalemia
Bladder outflow obstruction
Acoustic Trauma
LONG QT SYNDROME 5
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME 2/5, DIGENIC (disorder)
Fibromatosis, Gingival
Temple-Baraitser Syndrome
Pseudoepiphysis of the thumb
Absent nail of hallux
Short distal phalanx of toe
Hypoplastic thumbnail
Idiopathic gingival hyperplasia
LONG QT SYNDROME 3
Short QT Syndrome 3
SHORT QT SYNDROME 2 (disorder)
Long QT syndrome type 3
LONG QT SYNDROME 2/3, DIGENIC
LONG QT SYNDROME 1/2, DIGENIC (disorder)
LONG QT SYNDROME 2/9, DIGENIC
Cardiac channelopathy
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
LONG QT SYNDROME, BRADYCARDIA-INDUCED
Other hyperaldosteronism
Bartter syndrome, antenatal , type 2
Medullary Cystic Kidney Disease Type 2
Bartter syndrome, antenatal type 1
Renal juxtaglomerular cell hypertrophy/hyperplasia
Hyperprostaglandinuria
Low-to-normal blood pressure
Increased serum prostaglandin E2
Short mandibular rami
Prominent frontal sinuses
Prominent U wave
Bidirectional ventricular ectopy
Bidirectional tachycardia
ATRIAL FIBRILLATION, FAMILIAL, 9
Clinodactyly of the 5th toe
Hyperplasia of frontal sinus
Increased volume of frontal sinus
Increased size of frontal sinus
Hypertrophy of frontal sinus
Decreased size of mandibular ramus
Curvature of the little toe
LONG QT SYNDROME 13
HYPERALDOSTERONISM, FAMILIAL, TYPE III
ALDOSTERONE-PRODUCING ADRENAL ADENOMA, SOMATIC
Familial primary hyperaldosteronism type 2
Glucocortocoid-insensitive primary hyperaldosteronism
Prominent nasal tip
Abnormality of the forehead
Hypertrophy of nasal tip
Hyperplasia of nasal tip
Bulbous tip of nose
Generalized Lipodystrophy
Cantu syndrome
Cuboid-shaped vertebral bodies
Barbiturate withdrawal
Salt craving
Renal sodium wasting
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
Abnormality of the pancreatic islet cells
Elevated hemoglobin A1c
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
DEND syndrome
LEBER CONGENITAL AMAUROSIS 16
PULMONARY HYPERTENSION, PRIMARY, 4
Perinatal death
Generalized Epilepsy and Paroxysmal Dyskinesia
Involuntary dystonic or choreiform movements
PSEUDOHYPOALDOSTERONISM, TYPE IID
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
Hypertension, Diastolic, Resistance to
Ventricular tachycardia, monomorphic
DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
Bradyarrhythmia (disorder)
Other specified conduction disorders
Fetal bradycardia
Atrial Fibrillation, Familial, 3
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
Atrial Fibrillation Adverse Event
LONG QT SYNDROME 1, RECESSIVE
Blushing
Facial erythema
Benign Neonatal Epilepsy, Nonfamilial
Afebrile seizure
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
EPILEPSY, BENIGN NEONATAL, 1
EEG with burst suppression
Epilepsy, Benign Neonatal, 1, And-Or Myokymia
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
Ruddy face
Abnormality of the globus pallidus
Aspiration pneumonitis
Vohwinkel Syndrome, Variant Form
Avascular retina
Deficiency of fructokinase
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
Pure hereditary spastic paraplegia
Patellar clonus
Hereditary Autosomal Dominant Spastic Paraplegia
Progressive leukoencephalopathy
Spastic paraplegia 10, autosomal dominant
MYOCLONUS, INTRACTABLE, NEONATAL
Malignant neuroendocrine tumor
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
RETINAL DYSPLASIA, PRIMARY
Sexual nondevelopment
Non-small cell lung cancer stage IIIB
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA
Gammopathy
Telangiectasia macularis eruptiva perstans
Retroperitoneal mass
testicular embryonal carcinoma and teratoma
Ovarian germ cell tumour mixed
Nonpigmented nevus
Skin Mastocytoma
Familial mastocytosis
Deficiency of dehydrogenase
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Esophageal Melanoma
Extragastrointestinal Gastrointestinal Stromal Tumor
Intermediate Risk Gastrointestinal Stromal Tumor
Spindle Cell Type Gastrointestinal Stromal Tumor
adult acute myeloid leukemia with inv(16)(p13;q22)
Profuse pigmented skin lesions
Vaginal Melanoma
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
PIEBALDISM WITH SENSORINEURAL DEAFNESS
PIEBALDISM, PROGRESSIVE
Absent pigmentation of the ventral chest
Angiosarcoma of Soft Tissue
Isolated bone marrow mastocytosis
Primary vesicoureteric reflux
Kallikrein, Decreased Urinary Activity of
Prekallikrein deficiency
Postnatal infection
Hyperesthesia, Tactile
Hyperesthesia, Thermal
Kininogen Deficiency, Total
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6
Melanonychia
Chromosomal Instability
Lymphedema, microcephaly and chorioretinopathy syndrome
Microcephaly with Chorioretinopathy, Autosomal Dominant
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Laryngotracheomalacia
Posterior scalloping of vertebral bodies
Spondyloepimetaphyseal dysplasia with multiple dislocations
Caudal interpedicular narrowing
Abnormal calcification of the carpal bones
Delayed patellar ossification
Delayed phalangeal epiphyseal ossification
Long distal phalanx of finger
Slender proximal phalanx of finger
Slender distal phalanx of finger
Long proximal phalanx of finger
Delayed bone maturation of the knee cap
Short rib dysplasia
Dental caries pit and fissure
Pseudotumor
Adenocarcinoma of appendix
Juxtaglomerular tumor
Malignant lymphoma of testis
Laryngeal hypoplasia
Sessile polyp
Cystic Neoplasm
Undifferentiated Pancreatic Carcinoma
Oncocytic Schneiderian papilloma
mucinous adenocarcinoma of lung
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
Monosomy 7 of Bone Marrow
Anorectal adenocarcinoma
BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
Peritoneal dissemination
Atrial septal dilatation
Ichthyosis hystrix
Epidermolytic palmoplantar keratoderma of Vorner
Ichthyosis hystrix of Curth-Macklin
Epidermolysis bullosa simplex with mottled pigmentation
Erythrokeratoderma, Reticular
Ichthyosis hystrix, Curth Macklin type
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Epidermolytic Hyperkeratosis, Late-Onset
Keratosis palmoplantaris striata 3
Epidermolytic palmoplantar keratoderma Vorner type
Keratosis of Greither
Congenital reticular ichthyosiform erythroderma
ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Microcysts
Peripheral ulcerative keratitis
Punctate opacification of the cornea
Waisman syndrome
Leukokeratosis, Hereditary Mucosal
WHITE SPONGE NEVUS 1
Köbner phenomenon
Epidermolysis bullosa simplex herpetiformis
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Mottled pigmentation of the trunk and proximal extremities
Discrete 2 to 5-mm hyper- and hypopigmented macules
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR KERATODERMA
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR KERATOSIS
Punctate palmoplantar hyperkeratosis
Progressive reticulate hyperpigmentation
Perioral Dermatitis
Chapping of lips
Pachyonychia Congenita, Type 2 (disorder)
Abnormality of nail color
Palmar hyperkeratosis
Onychogryposis of toenails
PACHYONYCHIA CONGENITA 4
Chromophobe tumor
Limbal stem cell deficiency
Gastritis cystica profunda
Abnormal bone formation
hepatitis cryptogenic
CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO (finding)
Cirrhosis, Familial
Keratoderma, diffuse
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)
Keratosis Palmaris et Plantaris Familiaris
Penile warts
Hyperparakeratosis
WHITE SPONGE NEVUS 2
Autosomal dominant epidermolysis bullosa simplex
Naegeli syndrome
Dermatopathia pigmentosa reticularis
Skin fragility with non-scarring blistering
Reticulate pigmentation of oral mucosa
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
Hypohidrosis or hyperhidrosis
Abnormality of the conjunctiva
Juvenile fibroadenoma of breast
Scarring alopecia
Follicular keratosis
Subungual hyperkeratosis
Sebocystomatosis
Perforation of stomach
Cancer of lymph node
Pancreatic carcinoma stage I
Infection in the elderly
Monilethrix
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
Congenital onychodystrophy
Hair-nail ectodermal dysplasia
Temporal hypotrichosis
Congenital malformed nails
Aphasia, Acquired
Congenital Hand Deformities
Gait, Athetotic
Charcot Gait
Gait, Festinating
Cerebellar ataxic gait
Gait, Hemiplegic
Aphasia, Ageusic
Aphasia, Global
Aphasia, Functional
Aphasia, Graphomotor
Aphasia, Intellectual
Aphasia, Semantic
Aphasia, Syntactical
Gait, Rigid
Gait, Broadened
Gait, Stumbling
Contracture of joint of thumb
Rapid Fatigue of Gait
Marche a Petit Pas
Gait, Hysterical
Thumb in palm deformity
Aphasia, Mixed
Aphasia, Auditory Discriminatory
Aphasia, Commisural
Aphasia, Post-Ictal
Aphasia, Post-Traumatic
Dejerine-Lichtheim Phenomenon
Gait Disorder, Sensorimotor
Gait Disorders, Neurologic
Gait, Frontal
Gait, Widebased
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
Rhombencephalosynapsis
HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
Nievergelt syndrome
Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma
Derangement of temporomandibular joint
Temporomandibular joint deformity
Ocular axial length
Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency
Abnormality of the temporomandibular joint
Highly elevated creatine phosphokinase
Abnormal brainstem MRI signal intensity
Malformation of the temporomandibular joint
Laryngismus
Laryngoonychocutaneous syndrome
Recurrent loss of toenails and fingernails
CARDIOMYOPATHY, DILATED, 1JJ
LISSENCEPHALY 5
Posterior lenticonus
Microcoria, congenital
Hypoplasia of the ciliary body
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
Familial mesangial sclerosis
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
Blister with infection
Generalized microdontia
Idiopathic cardiac hypertrophy
Solid carcinoma
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)
Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7
Amyotrophy, monomelic
Acute tonsillitis
Sclerodactyly
White blood cell abnormality
Calcification of trachea
Other osteochondrodysplasia with defects of growth of tubular bones and spine
Reynolds syndrome
Anterior rib punctate calcifications
Sternal punctate calcifications
Laryngeal calcification
Severe hydrops fetalis
Pseudo Pelger-Huet Anomaly
Patchy variation in bone mineral density
Rhizomelic leg shortening
Abnormal ossification involving the femoral head and neck
Punctate vertebral calcifications
Abnormality of the calcaneus
Supernumerary vertebral ossification centers
Abnormality of chromosome segregation
Short diaphyses
Increased circulating very-low-density lipoprotein levels
Chronic heart disease
IMMUNODEFICIENCY 22
Hepatitis, Animal
Klebsiella Infections
Staphylococcal Skin Infections
Trifascicular block
Left posterior fascicular block
Lactase Deficiency, Congenital
Lactase deficiency (disorder)
Decreased small intestinal mucosa lactase activity
Lactate dehydrogenase deficiency type A
Lactate Dehydrogenase B Deficiency
Retrosternal pain
Pinguecula
Iatrogenic Cushing's disease
Simple obesity
Catabolic state
Congenital Generalized Lipodystrophy Type 1
Obesity in animals
Congenital leptin deficiency
LEPTIN DYSFUNCTION
Monogenic Obesity
Adenohypophyseal Diseases
Posterior pituitary disease
Sterility, Reproductive
Polydactyly preaxial type 1
Aplasia cutis congenita of scalp
Hypoplastic pubic rami
Scalp defect
Focal absence of scalp tissue
Solitary scalp defect
Jarcho-Levin syndrome
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
Abnormality of the intervertebral disk
Tumor-Associated Process
Pituitary microadenoma
noninfectious hepatitis
Leydig cell agenesis
Testotoxicosis
Leydig Cell Hypoplasia, Type II
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Luteinizing Hormone Resistance, Female
46,XY Disorder of Sex Development Due To LH Defects
LEYDIG HYPOPLASIA, TYPE I
Incomplete male pseudohermaphroditism
CHROMOSOME 17q12 DELETION SYNDROME
STUVE-WIEDEMANN SYNDROME
Congenital Pain Insensitivity
Talipes valgus
Atrophy of tongue papillae
Paranoid delusion
Stuve-Wiedemann dysplasia
Bent bone dysplasia group
Knee reflex absent
Square face
Metaphyseal rarefaction
Thickened cortex of long bones
Wide nasal base
Abnormal metaphyseal trabeculation
Lacrimation abnormality
Smooth dorsum of tongue
Atrophy of lingual surface
Atrophy of dorsum of tongue
Bird-like facies
LIG4 Syndrome
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Abnormality of female external genitalia
CATARACT 19, MULTIPLE TYPES
Cortical pulverulent cataract
Fibrosarcoma metastatic
Niemann-Pick Disease, Type D
Bone-marrow foam cells
Acid cholesteryl ester hydrolase deficiency, type 2
Endocervical adenocarcinoma in situ
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
Proximal muscle weakness in upper limbs
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6
Abnormality of the labia majora
Loss of gluteal subcutaneous adipose tissue
Increased adipose tissue around the neck
EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT
Familial multiple factor deficiency syndrome, type I
Atrial Flutter
Fetal Membranes, Premature Rupture
Sinoatrial Block
Oral lesion
Peroneal muscle weakness
Subcutaneous calcification
Short cord
Hydrops of placenta
Generalized obesity
Neoplasm of small intestine
Lethal tight skin contracture syndrome (disorder)
Pinched nasal tip
Pelvic girdle weakness
Left ventricular aneurysm
Temporomandibular joint stiff
Adhesions of temporomandibular joint
Sarcoma, metastatic
Malouf syndrome
Najjar syndrome
Limb-girdle myopathy
Labial pseudohypertrophy
Loss of truncal subcutaneous adipose tissue
Increased intramuscular fat
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Progressive clavicular acroosteolysis
Narrow nasal ridge
Prominent superficial veins
Limb-girdle muscle atrophy
Hypoplastic facial bones
Increased anterioposterior diameter of thorax
Overtubulated long bones
Prominent superficial blood vessels
Epidermal hyperkeratosis
Charcot-Marie-Tooth disease, Type 2B1
Prominent scalp veins
Heart-hand syndrome, Slovenian type
Minimal subcutaneous fat
Axonal degeneration/regeneration
Enlarged peripheral nerve
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
Emery-Dreifuss Muscular Dystrophy 3
Progeria Syndrome, Childhood-Onset
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
Temporomandibular ankylosis
NESTOR-GUILLERMO PROGERIA SYNDROME
Dropped head syndrome
Abnormal hair whorl
Bilateral coxa valga
HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
Pelvic girdle amyotrophy
Patchy hypo- and hyperpigmentation
Abnormality of the Achilles tendon
Sclerosis of hand bone
Aplasia of the phalanges of the 3rd toe
Abnormal electrophysiology of sinoatrial node origin
Structural foot deformity
Aplasia/Hypoplasia of the clavicles
Abnormal atrioventricular conduction
Arteriosclerosis of small cerebral arteries
Abnormality of circulating leptin level
Peripheral axonal atrophy
Acroosteolysis of distal phalanges (feet)
Increased facial adipose tissue
Decreased size of facial bones
Underdevelopment of facial bones
Lesion of oral cavity
Hardened artery wall in small cerebral arteries
Hypotrophic facial bones
Flattening of facial bones
Facial fat hypertrophy
Facial fat hyperplasia
Proximal upper limb muscle hypertrophy
Abnormal cellular phenotype
Dilatation of the bladder
Adult Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease, Atypical
Classic Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease, Transitional
Cockayne-Pelizaeus-Merzbacher Disease
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Diffuse leukoencephalopathy
Autonomic erectile dysfunction
Decreased sweating due to autonomic dysfunction
Symmetric peripheral demyelination
Spinocerebellar ataxia type 31
Iliac crest spur
Thickening of the lateral border of the scapula
Glenoid fossa hypoplasia
Hypoplasia of first ribs
Disproportionate prominence of the femoral medial condyle
Absence of pectoralis minor muscle
Patella aplasia-hypoplasia
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Biceps aplasia
Quadriceps aplasia
Triceps aplasia
Hypoplastic radial head
Lester's sign
Elongated radius
Orthokeratosis
Groenouw's Dystrophies
Ehlers-Danlos syndrome type 5
Hepatic granuloma
AORTIC ANEURYSM, FAMILIAL THORACIC 10
Hypolipoproteinemias
Contagious bovine pleuropneumonia
Cilioretinal artery occlusion
Edema of bone marrow
Hypoprebetalipoproteinemia
Lp(A) Deficiency, Congenital
Renal abscess
Stage III Prostate Carcinoma
Secondary hypertriglyceridemia
Ectopic liver
Lactescent serum
Type I hyperlipidaemia
Hyperchylomicronemia
Lipase deficiency combined
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 11
Soft tissue chondroma
Burnett Schwartz Berberian syndrome
Atrophoderma vermiculatum
Keratosis pilaris decalvans
Donnai-Barrow syndrome
Infra-orbital crease
Hyperostosis of skull
SCLEROSTEOSIS 2
Curved distal phalanges of the hand
MYASTHENIC SYNDROME, CONGENITAL, 17
Neural tube defects X-linked
Spina Bifida, X-Linked
Neural tube defect, folate-sensitive
Spina Bifida, Folate-Sensitive
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)
TOOTH AGENESIS, SELECTIVE, 7
Retinopathy background
Traction detachment of retina
Retinal exudates
Torus palatinus
Absent anterior chamber of eye
Phthisis bulbi
Congenital retinal fold
Posterior Vitreous Detachment
Worth disease
Maxillary torus
At risk of osteoporosis
Prominent midpalatal ridge
Metacarpal diaphyseal endosteal sclerosis
Metatarsal diaphyseal endosteal sclerosis
Van Buchem disease type 2
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
Peripheral retinal avascularization
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
HIGH BONE MASS
EXUDATIVE VITREORETINOPATHY 4 (disorder)
Horizontal pendular nystagmus
Broad jaw
Clavicular sclerosis
Osteoporosis in children
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT
EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
EXUDATIVE VITREORETINOPATHY 4, DIGENIC
Vertebral body sclerosis
Exudative vitreoretinopathy
Recurrent abdominal pain
MYOPIA 23, AUTOSOMAL RECESSIVE
Disorder of neutrophils
Cyclocephaly
CATARACT 44
Oedema auricular
Mycobacterium marinum Infection
Farmer's Lung
Quadriplegic cerebral palsy
PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (finding)
LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO
Glaucoma, primary
Weill-Marchesani-Like Syndrome
Glaucoma 3, Primary Congenital, D
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
WEILL-MARCHESANI SYNDROME 3
Brachyolmia
Congenital scoliosis due to bony malformation
Verloes Bourguignon syndrome
Herniation of intervertebral nuclei
Narrow vertebral interpedicular distance
Tooth Agenesis, Selective, 6
Hemivertebra fusion or failure of segmentation with scoliosis
Tooth Agenesis, Familial
Non-Neoplastic Peripheral Nervous System Disorder
Leukotriene C4 Synthase Deficiency
Chronic nasopharyngitis
Vaginal Yeast Infections
BLOOD GROUP--LUTHERAN NULL
Spinocerebellar Ataxia 10
Malignant Mixed Tumor
Sphingolipidoses
Immunodeficiency following hereditary defective response to Epstein-Barr virus
Gastrointestinal amyloidosis
Infection due to Brucella suis
Gelatinous droplike corneal dystrophy
Neonatal diarrhea
Insulinoma, malignant
Noninfective neonatal diarrhea
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
Lynch syndrome I (site-specific colonic cancer)
Adnexal Dysplasia
Monophthalmos
Pigeon Breeder's Lung
Hematomediastinum
Multiple aneurysms
Loeys-Dietz Aortic Aneurysm Syndrome
LOEYS-DIETZ SYNDROME 3
Arterial tortuosity
Abscess of breast
Disorder of endocrine pancreas
Moderate pancreatic duct dysplasia
Myhre syndrome
Polyp of small intestine
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
Pancreatic islet cell tumors
Generalized muscle hypertrophy
Enlarged vertebral pedicles
Leri pleonosteosis
Congenital anomaly of cardiovascular system (disorder)
CRANIOSYNOSTOSIS 7
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
Paraquat lung
PULMONARY HYPERTENSION, PRIMARY, 2
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
Cataract, Pulverulent, Juvenile-Onset
CATARACT 21, MULTIPLE TYPES
Nerve compression syndrome
Dysarthria, Spastic
Entrapment Neuropathies
Charcot-Marie-Tooth disease type 4
SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
RETINITIS PIGMENTOSA 62
Congenital disorder of glycosylation type 1H
Mannosidase Deficiency Diseases
Progressive retinal degeneration
Spinocerebellar tract disease in lower limbs
Lysosomal beta-mannosidase deficiency
Hypoplasia of the abdominal wall musculature
Increased urinary disaccharide excretion
beta-Mannosidosis
Adult Antisocial Behavior
Dyssocial Behavior
Atypical depressive disorder
Fetal Malnutrition
Low frustration tolerance
Brunner Syndrome
Fetal Nutrition Disorders
Nevus, Intradermal
Schizophrenia-like symptoms (uncommon)
Supranuclear paralysis
Granulovacuolar degeneration
Inappropriate sexual behavior
Progressive subcortical gliosis
Hemispatial Neglect
Gaze palsy
Apraxia of eyelid
Frontolimbic dementia
Pick Complex
Supranuclear Palsy, Progressive, 1, Atypical
Retrocollis
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
INTERSTITIAL LUNG AND LIVER DISEASE
Mandibular retrognathism
Bullous systemic lupus erythematosus
Bacterial otitis media
Osteoarthrosis of the carpometacarpal joint of the thumb
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Dysplastic iliac wings
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
Bacterial gastroenteritis
Hereditary Paraganglioma-Pheochromocytoma Syndrome
Cerebelloparenchymal Disorder V
Furunculosis
Transitory tachypnea of newborn
Diplegia
Infant, Very Low Birth Weight
Fungal pneumonia
Neonatal pneumonia
Chronic Necrotizing Pulmonary Aspergillosis
Fallopian tube infection
Acute post-streptococcal glomerulonephritis
Arthritis of hand
Postoperative myocardial infarction
secondary immune deficiency
Bronchopulmonary disease
Cranial Arteritis
Tuberculosis in children
Otitis media in children
Mycobacterial lymphadenitis
HUNTINGTON DISEASE-LIKE 2
Vacuolar myelopathy
Deletion of long arm of chromosome 18
Chromosome 18, trisomy 18q
Chromosome 18q syndrome
skin damage
Spot pigmented
UV-INDUCED SKIN DAMAGE, SUSCEPTIBILITY TO
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
Solar Erythema
Familial Glucocorticoid Deficiency Type 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
Familial obesity
Proopiomelanocortin Deficiency
Childhood-onset truncal obesity
Constitutional obesity
Decreased resting energy expenditure
Increased adipose tissue
Obesity due to melanocortin 4 receptor deficiency
Hidradenitis
Laryngitis
Mesothelioma malignant advanced
Immune Disorders, Nervous System
3-methylcrotonyl CoA carboxylase 1 deficiency
Macular corneal dystrophy
Macular corneal dystrophy Type II (disorder)
Cone-Rod Dystrophy 7
DEAFNESS, AUTOSOMAL DOMINANT 70
Natural Killer Cell Deficiency, Familial Isolated
MEIER-GORLIN SYNDROME 8
TOXOPLASMOSIS, CHRONIC
Streptococcal necrotizing fasciitis
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
Neoplasms, Connective Tissue
Cardiac Sarcoma
Spindle cell lipoma
Benign tumor of salivary gland
Juvenile ossifying fibroma
Intraosseous well differentiated osteosarcoma
Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma
Poorly Differentiated Neuroblastoma
Ganglioneuroblastoma, Nodular
Progressive encephalopathy
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
Localized neuroblastoma
Progressive brain disease
Myoclonus, Intention
Myoclonus, Palatal
Irregular breathing
Myoclonus, Oculopalatal
Myoclonus Simplex
Myoclonus, Lower Extremity
Myoclonus, Segmental
Myoclonus, Nocturnal
Myoclonus, Upper Extremity
Polymyoclonus
Mental Retardation, X-Linked 16
Hernia of abdominal wall
Gait Apraxia
Prolonged QTc interval
Intermittent hyperventilation
Rett Syndrome, Preserved Speech Variant
Abnormal T-wave
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
Lubs X-linked mental retardation syndrome
Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism
Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked 79
Mental Retardation, X-Linked, With Spasticity
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Rett Syndrome, Zappella Variant
Ppm-X Syndrome
Trisomy Xq28
Congenital encephalopathy
D - transposition of the great vessels
Mowat-Wilson syndrome
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL
5q14.3 microdeletion syndrome
Ergotism
Palindromic rheumatism
Intermittent joint effusion
Polyserositis
Minor oral aphthous ulceration
Periodic syndrome
Familial Mediterranean Fever, Autosomal Dominant
Psoriatic Juvenile Idiopathic Arthritis
Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome [PFAPA]
Nocturnal Myoclonus Syndrome
Pallister-Killian syndrome
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies
response to risperidone
CHROMOSOME 15q14 DELETION SYNDROME
46,XY SEX REVERSAL 6
PITUITARY ADENOMA, NON-SECRETING
Familial Multiple Lipomatosis
Liver Neuroendocrine Tumor
pancreatic gastrinoma
Confetti-like hypopigmented macules
Fluctuations in consciousness
PARATHYROID ADENOMA, SOMATIC
MEN1 SOMATIC MUTATIONS
LIPOMA, SOMATIC
ANGIOFIBROMA, SOMATIC
Adrenocorticotropin deficient adrenal insufficiency
Abnormality of hair density
Klippel-Feil Syndrome
Klippel Feil syndrome recessive type
Limited neck range of motion
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
Abnormality of the shoulder
Obstructive sleep apnea hypopnea syndrome
Benign mixed epithelial and stromal tumor of kidney
Type 1 Papillary Renal Cell Carcinoma
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Papillary renal cell carcinoma, familial
Chest--Tumors
DEAFNESS, AUTOSOMAL RECESSIVE 97
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
Neuroectodermal Tumor, Melanotic
Diastema of Teeth
Macrodontia
Congenital Disorder Of Glycosylation, Type IIB
Midfrontal capillary hemangioma
Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type IIF
Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation, type 2G
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
COG5 congenital disorder of glycosylation
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
Carbohydrate deficient glycoprotein syndrome type 2k
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Type II transferrin isoform profile
Increased size of tooth
Hypertrophy of tooth
Hyperplasia of tooth
Mastocytosis, Bullous
Melanosis, Universal
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE
WAARDENBURG SYNDROME, TYPE IIA
Progressive hyperpigmentation
DEAFNESS, AUTOSOMAL DOMINANT 69
Choroid Plexus Neoplasms
Chordoma of clivus
response to temozolomide
Congenital atresia of trachea
Congenital hypoplasia of pulmonary artery
Vertebral osteoporosis
Monckeberg Medial Calcific Sclerosis
Calcification of the auricular cartilage
Cartilaginous ossification of nose
Premature fusion of phalangeal epiphyses
Cartilaginous ossification of larynx
Chronic kidney disease stage 3
Chronic lymphocytic meningitis
Bare Lymphocyte Syndrome, Type II, Complementation Group A
Bare Lymphocyte Syndrome, Type II, Complementation Group B
Bare Lymphocyte Syndrome, Type II, Complementation Group C
Bare Lymphocyte Syndrome, Type II, Complementation Group D
Bare Lymphocyte Syndrome, Type II, Complementation Group E
Recurrent protozoan infections
Congenital cleft larynx and Opitz-Frias syndrome
Opitz-G syndrome, type 2
Posterior pharyngeal cleft
Adult Classical Hodgkin Lymphoma
Legionellosis
Punctate cataract
CATARACT 15, MULTIPLE TYPES
Cribriform Neuroepithelial Tumor
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Positive
Albinism, Yellow-Mutant
Tietz syndrome
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
Waardenburg Syndrome Type 1
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
WAARDENBURG SYNDROME, TYPE IIE
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
Clear cell papillary renal cell carcinoma
Electrooculogram abnormal
Complicated hereditary spastic paraplegia
Machado-Joseph Disease Type I
Machado-Joseph Disease Type II
Machado-Joseph Disease Type III
Machado-Joseph Disease Type IV
Dilated fourth ventricle
Facial-lingual fasciculations
Neuronal intranuclear inclusion disease
Ovarian Fibromata
Breast Phyllodes Tumor
Condyloma acuminata of vulva
Squamous cell carcinoma of conjunctiva
Grade I Meningioma
Trematode Infections
Cecum Carcinoma
Malignant neoplasm of sigmoid colon
Acute dermatitis
Benign digestive system neoplasms
Grade 3 Colorectal Adenocarcinoma
Malignant genitourinary tract tumor
Benign genitourinary tract neoplasm
Solitary rectal ulcer syndrome
Constitutional Mismatch Repair Deficiency Syndrome
Acute bilineal leukemia
Chromosome 6, monosomy 6q
Undifferentiated type acute leukemia
Precursor B-lymphoblastic lymphoma stage II
Acute myeloid leukemia, 11q23 abnormalities
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Moderate depression
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY
Tumor of dermis
Melanoma-Associated Retinopathy
Skin Pigmentation Disorder
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Malignant lymphoma - centrocytic
Malignant lymphoma, mixed small and large cell, diffuse
Thyroid Diffuse Large B-Cell Lymphoma
SPINOCEREBELLAR ATAXIA 43
Hemangioma of retina
Fusiform Aneurysm
Superior limbic keratoconjunctivitis
Isolated aortic stenosis
Decreased drug resistance
pregnancy preterm
Conjunctivochalasis
Cervical Squamous Cell Carcinoma In Situ
Astrocytoma of brain
Bronchial Neoplasms
Kienbock Disease
Mandibular Diseases
Maxillary Diseases
Avascular necrosis of bone
Nose Neoplasms
Idiopathic Multicentric Osteolyses
Parotitis
Uterine hemorrhage
Peripheral opacity of cornea
Tuberculosis, Central Nervous System
Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Winchester syndrome (disorder)
carcinoma sarcoma
Cancer of Nose
Tumor Cell Mobility
Complete paraplegia
Carpal osteolysis
Osteolysis involving tarsal bones
TORG-WINCHESTER SYNDROME
Interphalangeal joint erosions
Widened metacarpal shaft
Thin metacarpal cortices
Thin metatarsal cortices
Metacarpal osteolysis
Metatarsal osteolysis
Valvular disease
Interphalangeal joint contracture of finger
Distal tapering of metatarsals
Ankylosis of feet small joints
Sclerotic cranial sutures
Disorder of tendon
Cyclical vomiting syndrome (disorder)
Gastrointestinal ulcer
Hyperplastic tooth follicle
Benign neoplasm of intestinal tract
Necrotizing Scleritis
Maladaptive behavior associated with physical illness
Rhabdoid meningioma
Metaphyseal anadysplasia
Vasogenic Cerebral Edema
Cytotoxic Cerebral Edema
Necrotizing Arteritis
Vasogenic Brain Edema
Cytotoxic Brain Edema
Deformity of lower limb
Anterior subcapsular cataract
Skin Nodular Basal Cell Carcinoma
Ventricular Free Wall Rupture
Postmenopausal endometrium
Metaphyseal Anadysplasia 2
Combined pulmonary fibrosis and emphysema
Basal cell carcinoma, nodular
Ehrlichiosis
Pityriasis Lichenoides
Metaphyseal chondrodysplasia Spahr type
Recurrent Malignant Peripheral Nerve Sheath Tumor
Progressive leg bowing
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared, irregular rib ends
Pear-shaped vertebrae
Irregular sclerotic endplates
Metaphyseal Anadysplasia 1
Indolent ulcer
Experimental Organism Benign Keratoacanthoma
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
Abnormality of the head
Mural thrombus
Mural thrombus of heart
Glomerulonephritis, Minimal Change
Osteolysis involving bones of the feet
Osteolysis involving bones of the upper limbs
Optic disc structural anomaly
Cavitary Optic Disc Anomalies
3-Hydroxyisobutyric aciduria
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Familial meningioma
Xanthinuria
Combined molybdoflavoprotein enzyme deficiency
Sulfite oxidase deficiency
Deficiency of aldehyde oxidase
Axonal loss
Xanthine nephrolithiasis
Increased urinary sulfite
Decreased urinary sulfate
Molybdenum Cofactor Deficiency, Complementation Group A
Increased urinary thiosulfate
Myoclonic spasms
Increased urinary taurine
Increased urinary hypoxanthine
Decreased urinary urate
Absent urinary urothione
Reduced xanthine dehydrogenase activity
Molybdenum Cofactor Deficiency, Complementation Group B
Demyelinating disease of central nervous system
Myelitis, Transverse
NARCOLEPSY 7
Ankylosing spondylitis and other inflammatory spondylopathies
Mature B-Cell Neoplasm
Deficiency of isomerase
Deficiency of mannose-6-phosphate isomerase
THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2, SOMATIC
Heartwater Disease
Mirror hands
Vasculitis of large artery
Mercaptolactate-Cysteine Disulfiduria
Cochlear Diseases
Absence of pain sensation
Electron Transport Chain Deficiencies, Mitochondrial
Oxidative Phosphorylation Deficiencies
Acral ulceration and osteomyelitis leading to autoamputation of digits
NAVAJO NEUROHEPATOPATHY
Navajo Familial Neurogenic Arthropathy
Reye syndrome-like episodes
SYMPHALANGISM, PROXIMAL
Osteomyelitis leading to amputation due to slow healing fractures
Numbness
Tonic Pupil
Myokymia, Generalized
Congenital neuropathy
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth disease, Type 2J
Myelin outfoldings
Cold-induced muscle cramps
Upper limb postural tremor
Charcot-Marie-Tooth disease, Type 2I
DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, WITH FOCALLY FOLDED MYELIN SHEATHS
Abnormality of the respiratory system
Malignant tumor of small intestine
Turcot Syndrome Type 1
Small Intestinal Neuroendocrine Tumor
Microsatellite instability-high colorectal cancer
Nijmegen Breakage Syndrome-Like Disorder
Ataxia-Telangiectasisa-Like Disorder 1
Duodenitis
Sporadic Gastric Adenocarcinoma
Sebaceous gland tumors
FAMILIAL ADENOMATOUS POLYPOSIS 4
PREMATURE OVARIAN FAILURE 13
Prostate Cancer, Hereditary, 13
IMMUNODEFICIENCY 50
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
Neonatal intestinal obstruction
Soluble P-Selectin Measurement
NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3
Pitting of nails
Unilateral cleft lip
Hypodontia and nail dysgenesis
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Familial hypodontia
OROFACIAL CLEFT 3
Orofacial Cleft 9
OROFACIAL CLEFT 5
Orofacial Cleft 4
Hypoplasia of the primary teeth
Microdontia of primary teeth
OROFACIAL CLEFT 2
OROFACIAL CLEFT 10
Tooth Agenesis, Selective, With Orofacial Cleft
Hypodontia Oligodontia with Orofacial Cleft
Orofacial Cleft 12
OROFACIAL CLEFT 13
Thin toenail
OROFACIAL CLEFT 14
Symmetrical, oval parietal bone defects
Parietal Foramina With Cleidocranial Dysplasia
PARIETAL FORAMINA 1
Unilateral coronal craniosynostosis
Mucosal neuromas
Recurrent depressive disorder
Thickening of pleura
Diaphyseal medullary stenosis with bone malignancy
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Fibrosis of pleura
Neurological muscle weakness
Scotoma, Centrocecal
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
Corticospinal tract atrophy
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
Striatonigral Degeneration, Infantile, Mitochondrial
RHYNS syndrome
Mitochondrial respiratory chain defects
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
SEIZURES AND LACTIC ACIDOSIS
Central retinal vessel vascular tortuosity
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)
Progressive intervertebral space narrowing
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
Stroke-like episode
Capillariasis
Pediculus capitis infestation
Epilepsia Partialis Continua
muscle pain or weakness
Chronic respiratory failure
DEAFNESS, AMINOGLYCOSIDE-INDUCED
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Genetic recurrent myoglobinuria
Anisakiasis
Tuberculous ascites
Corticosteroid-induced glaucoma
Acute Chagas' disease
Eccrine carcinoma
Invasive Prostate Carcinoma
Rat Neuroblastoma
Deficiency of citrate(si)-synthase
Spina bifida aperta of cervical spine
Anterior encephalocele
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
Hearing Loss, Sudden
Encephalomalacia
Myelocele
Congenital anomaly of aortic arch
Hemicephaly
Amyelencephalus
Arakawa syndrome 2
Lateral Sinus Thrombosis
incomplete anencephaly, hemicrania
Maxillofacial Abnormalities
Acephaly
Acquired Meningomyelocele
Occlusive stroke
Avascular necrosis of the capital femoral epiphysis
Methylmalonic acidemia with homocystinuria
Methylcobalamin Deficiency, CblG Type
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
Mthfr Deficiency, Thermolabile Type
Methylenetetrahydrofolate reductase deficiency
malignant neoplasm of large intestine stage IV
Hyperhomocystinemia
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
congenital muscle disorder
Charcot-Marie-Tooth disease, Type 4B1
Myotubular Myopathy with Abnormal Genital Development
Charcot-Marie-Tooth disease, Type 4B2
Slender toe
Respiratory failure requiring assisted ventilation
MITOCHONDRIAL COMPLEX I DEFICIENCY
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
NADH:Q(1) Oxidoreductase deficiency
Lactic Acidosis, Fatal Infantile
Abnormal mitochondria in muscle tissue
Leber plus disease
Optic Atrophies, Hereditary
Parinaud Syndrome
LEBER OPTIC ATROPHY AND DYSTONIA
Intestinal malabsorption of fat
ABDOMINAL OBESITY-METABOLIC SYNDROME QUANTITATIVE TRAIT LOCUS 1
METABOLIC SYNDROME, PROTECTION AGAINST
adult meningioma
Deficiency of Cobalamin G
Hypomethioninemia
Decreased methionine synthase activity
Decreased methylcobalamin
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Mitochondrial Myopathy with Diabetes
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
Mitochondrial cytopathy
Aminoglycoside-induced hearing loss
MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
Ileoanal Pouches
Hereditary nephropathy
Ovarian cancer, disseminated
Medullary cystic kidney disease 1
Interstitial Disease
Tubular basement membrane disintegration
Renal corticomedullary cysts
Impaired renal uric acid clearance
Medullary cystic kidney disease type 1
Medullary cystic disease
Glomerulocystic kidney disease
Renal cortical atrophy
Bile duct cystadenocarcinoma
Minimally Invasive Mucinous Lung Adenocarcinoma
Hypertrophy of adenoids
Intestinal nematode infection
Pericardial constriction
Mulibrey Nanism
Mycobacterium; ulcerans (disease)
Pericardial constriction with growth failure
Absent palmar crease
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Other disorders of branched-chain amino-acid metabolism
Disorder of organic acid metabolism
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(-) Type
Colorectal Adenomatous Polyposis, Autosomal Recessive
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
LUSCAN-LUMISH SYNDROME
POROKERATOSIS 7, MULTIPLE TYPES
Morbilliform rash
Aciduria
Normocytic hypoplastic anemia
Fluctuating hepatomegaly
Fluctuating splenomegaly
African swine fever
Adenoid cystic carcinoma of lacrimal gland
Angiocentric glioma
Contracture of joint of foot
Digitotalar Dysmorphism
LETHAL CONGENITAL CONTRACTURAL SYNDROME 3
LETHAL CONGENITAL CONTRACTURE SYNDROME 4
Biventricular hypertrophy
Obstructive asymmetric septal hypertrophy
Non-sustained ventricular tachycardia
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO
Primary hypertrophic cardiomyopathy
LEFT VENTRICULAR NONCOMPACTION 10
CARDIOMYOPATHY, DILATED, 1MM
Multiple Personality Disorder
Carcinoma in situ of anus
metastatic pheochromocytoma
Diffuse large B-cell lymphoma refractory
Polycystic Kidney, Type 1 Autosomal Dominant Disease
Progonoma
Classical Burkitt Lymphoma
RETINITIS PIGMENTOSA 9
Indolent multiple myeloma
Ocular Adnexal Lymphoma
Lymphomas in children
Cerebellar medulloblastoma
Woodchuck Hepatocellular Carcinoma
Oculodigitoesophagoduodenal syndrome
Stage 3 Neuroblastoma
Ganglioneuroblastoma, Intermixed
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
Monoclonal paraproteinemia
Cold Hemagglutinin Disease
Hyperviscosity syndrome
Bing-Neel syndrome
Neurological ventriculitis
IRAK4 Deficiency
Familial Waldenstrom's Macroglobulinaemia
Polyclonal elevation of IgM
Impaired lymphocyte transformation with phytohemagglutinin
Monoclonal immunoglobulin M proteinemia
Chronic drug abuse
MYOPATHY, CENTRONUCLEAR, 3
Total ophthalmoplegia
Epstein syndrome (disorder)
INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT
Inclusion body myopathy, autosomal dominant
Whistling appearance
Chin with H-shaped crease
Absent phalangeal crease
Aplasia of the interphalangeal creases
Round ear
Ulnar deviation of the hand or of fingers of the hand
Cardiomyopathy, Dilated, 1EE
Cardiomyopathy, Familial Hypertrophic, 14
Atrial Septal Defect 3
SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
Welander Distal Myopathy
Hernia sac
Reduced vital capacity
Decreased vital capacity
Tibial Muscular Dystrophy
Generalized limb muscle atrophy
MYOPATHY, MYOSIN STORAGE (disorder)
Scapuloperoneal amyotrophy
Myopathy, Hyaline Body, Autosomal Recessive
LEFT VENTRICULAR NONCOMPACTION 5
Toe extensor amyotrophy
Imperforate tricuspid valve
Weakness of long finger extensor muscles
Amyotrophy of ankle musculature
Cutaneous syndactyly of toes
Carney Complex Variant
Pathognomonic sign
May-Hegglin anomaly
Fechtner syndrome (disorder)
Nodular fasciitis
Hearing disability
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
Cochleosaccular degeneration of the inner ear and progressive cataracts
DEAFNESS, AUTOSOMAL DOMINANT 17
COCHLEOSACCULAR DEGENERATION
Deafness, autosomal dominant nonsyndromic sensorineural 17
Neutrophil inclusion bodies
Abnormal platelet shape
Focal Segmental Glomerulosclerosis Collapsing Variant
Leukocyte inclusion bodies
Left ventricular abnormality
Small Intestinal Sarcoma
Abnormal iris pigmentation
Aortic aneurysm, familial thoracic 4
acute myelomonoblastic leukemia
Dilatation of the descending thoracic aorta
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
ATRIAL FIBRILLATION, FAMILIAL, 18
AORTIC ANEURYSM, FAMILIAL THORACIC 7
Deafness, Autosomal Dominant 48
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
GRISCELLI SYNDROME, TYPE 3
Silver-gray hair
Accumulation of melanosomes in melanocytes
Melanin pigment aggregation in hair shafts
GRISCELLI SYNDROME, TYPE 1
Elejalde Disease
Deafness, Autosomal Recessive 37
Deafness, autosomal dominant nonsyndromic sensorineural 22
DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY
Deafness, Sensorineural, with Hypertrophic Cardiomyopathy
Usher syndrome type 2
Usher Syndrome, Type II
Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 11
DEAFNESS, AUTOSOMAL RECESSIVE 2
USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
Deaf-Blind Syndromes
Absent vestibular function
CELIAC DISEASE, SUSCEPTIBILITY TO, 4
Glaucoma due to combination of mechanisms
Chronic primary angle closure glaucoma
GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC
GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE
GLAUCOMA 1, OPEN ANGLE, A, DIGENIC
Spindle cell rhabdomyosarcoma
Extrarenal rhabdoid tumor
MYOPIA 2 (disorder)
Thoracic Neoplasms
Neuroaxonal Dystrophies
Adult Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy
Schindler Disease, Type II
White mater abnormalities in the posterior periventricular region
Distal sensory impairment of all modalities
Increased urinary O-linked sialopeptides
Schindler Disease, Type I
Schindler Disease, Type III
Telangiectasia of the oral mucosa
Dense calvaria
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
Mastoiditis
Recurrent infection of the gastrointestinal tract
Progressive vitiligo
Gastrointestinal infection
Nasal and nasal-type NK/T-cell lymphoma
Systemic aspergillosis
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
Retinal fold (finding)
Persistent primary vitreous
Subretinal exudate
Short frenulum of tongue
Exudative Vitreoretinopathy, Familial, X-Linked Recessive
EXUDATIVE VITREORETINOPATHY, X-LINKED
Aplasia/Hypoplasia of the lens
Intraretinal exudate
Anterior chamber synechiae
Peripheral vitreous opacities
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
Acute necrotizing encephalopathy
Leukoencephalopathy, Cystic, Without Megalencephaly
Progressive proximal muscle weakness
Nemaline Myopathy 2
SARCOIDOSIS, EARLY-ONSET
Charcot-Marie-Tooth disease, Type 1C
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
Childhood Embryonal Rhabdomyosarcoma
Charcot-Marie-Tooth disease, demyelinating, Type 1F
Clusters of axonal regeneration
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
Hypotrophy of the small hand muscles
Mohr Syndrome
Saldino-Noonan Syndrome
Short Rib-Polydactyly Syndrome
Hamartoma of tongue
Thoracic dysplasia
Oral-facial-digital syndrome, type 2
Disproportionate shortening of the tibia
Polysyndactyly of hallux
Postaxial polysyndactyly of foot
RETINITIS PIGMENTOSA 67
Lipomucopolysaccharidosis
Urinary excretion of sialylated oligosaccharides
Sialidosis, type 2
Sialidase deficiency
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)
PITT-HOPKINS SYNDROME
Glomus Tumor
Neurofibromatosis, type 4, of Riccardi
Fibrous Hamartoma of Infancy
Fibrolipoma
Neuromuscular hamartoma
Neurofibromatosis type 5
Cafe-au-lait macules with pulmonary stenosis
Neurofibromatosis 3
Desmoplastic Neurotropic Melanoma
Neurofibroma of subcutaneous tissue
NEUROFIBROMATOSIS, FAMILIAL SPINAL
Symmetric spinal nerve root neurofibromas
Inguinal freckling
Thoracic scoliosis
Lisch nodules
Hyperintense lesions in the basal ganglia on MRI
Neurofibromatosis-Noonan syndrome
NF1 Microdeletion Syndrome
Delayed fine motor development
Tibial pseudoarthrosis
Spinal neurofibromas
Familial Acoustic Neuroma
Schwannoma, Acoustic, Bilateral
Schwannomatosis
Radiation induced meningioma
Gastric Schwannoma
SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 1
Meningioangiomatosis
BRONCHIAL ADENOCARCINOMA
Large head (disorder)
CHROMOSOME 1p32-p31 DELETION SYNDROME
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
Intestinal fibrosis
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
Ankle Injuries
Colon Lipoma
Marshall-Smith syndrome
Irregular dentition
Large sternal ossification centers
Distal widening of metacarpals
Prominence of the premaxilla
Eclabion
SOTOS SYNDROME 2
Bullet-shaped middle phalanges of the hand
Duodenogastric Reflux
Empyema, Subdural
Leukemia, Feline
Chronic gouty arthritis
Short rib-polydactyly syndrome, Verma-Naumoff type
Enterococcal infection
lyssavirus infection
Benign multiple sclerosis
Pediatric ulcerative colitis
IMMUNODEFICIENCY, COMMON VARIABLE, 12
IMMUNODEFICIENCY, COMMON VARIABLE, 1
IMMUNODEFICIENCY, COMMON VARIABLE, 10
Abnormality of the periungual region
Abnormal size of pituitary gland
Empyema, Pleural
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Myofascial Pain Syndromes
Deep pain
Nevus of conjunctiva
Tocophobia
Prolactin-Producing Pituitary Gland Carcinoma
Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
ROSE Cluster 3
Defect of articular cartilage
Broad finger
Cataract, congenital, with microcornea or slight microphthalmia
Screwdriver-shaped incisors
Supernumerary maxillary incisor
Bacterial cystitis
Horner Syndrome
Thyroid cancer metastatic
Elevated urinary vanillylmandelic acid
Elevated urinary homovanillic acid
Clear cell tumor
Heterotaxy, Visceral, 5, Autosomal
MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
Urination Disorders
Pyogenic granuloma of skin
Athlete's heart
Axonotmesis
Trauma, Nervous System
Craniocervical Injuries
Neurotmesis
basal cell adenocarcinoma of salivary gland
Aortitis Syndrome
Mendelson Syndrome
Jet Lag Syndrome
lymph node infected
Respiratory allergy
Hypertension, Goldblatt
Autonomic nervous system imbalance
Cardiovascular renal disease
Atherosclerotic renal artery stenosis
Mass of thyroid gland
Persistent pulmonary hypertension
Hypervitaminosis D
LAURIN-SANDROW SYNDROME
Prinzmetal's variant angina
CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO
Glomus Jugulare Tumor
Cutis marmorata telangiectatica congenita
Valve anomalies
ADAMS-OLIVER SYNDROME 5
After pains
Benign pheochromocytoma
Unilateral Nasal Obstruction
Bilateral Nasal Obstruction
Myofibroma (morphologic abnormality)
Solitary Myofibromatosis
Serpentine fibula polycystic kidney syndrome
Hypoplastic 5th lumbar vertebrae
Elongated sella turcica
Tall lumbar vertebral bodies
Cervical instability
Crowded carpal bones
Acroosteolysis dominant type
Biliary hyperplasia
Partial absence of toe
Lateral meningocele
CADASILM
Nonarteritic anterior ischemic optic neuropathy (NAION)
Short nasal bridge
MYOFIBROMATOSIS, INFANTILE, 2
Recurrent subcortical infarcts
Subcortical dementia
Cerebral Angiitis
Abnormality of B cell physiology
Interferon Alpha Measurement
Dysarthria, Scanning
Internal Ophthalmoplegia
Dysarthria, Flaccid
Dysarthria, Mixed
Dysarthria, Guttural
Low cholesterol esterification rates
Abnormal cholesterol homeostasis
Foam cells in visceral organs and CNS
Niemann-Pick Disease, Nova Scotian Type
Brucellosis, Pulmonary
NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
Fatal liver failure in infancy
Nephronophthisis - medullary cystic disease
JOUBERT SYNDROME 4 (disorder)
Molar tooth sign on MRI
NEPHRONOPHTHISIS 2
Elongated superior cerebellar peduncle
Long cerebellar peduncles
Thickened superior cerebellar peduncle
Elevated amniotic fluid alpha-fetoprotein
Acute myeloid leukemia in remission
Chronic myeloid leukemia in remission
Hypercapnia
Atrial dilatation
Acute ischemic heart disease
Atrial Fibrillation, Familial, 6
ATRIAL STANDSTILL 2
Cardiac Output, High
Ventricular Dysfunction, Right
Vertebral wedging
Lower thoracic kyphosis
Thoracolumbar interpediculate narrowness
Acromesomelia
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
Redundant skin on fingers
Toothache
Microcytosis
Decreased mean corpuscular volume
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
Malignant melanoma of rectum
Neurocutaneous melanosis
childhood acute myeloid leukemia/other myeloid malignancies
Central nervous system melanoma
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
Noonan Syndrome 6
Pulmonary interstitial glycogenosis
Numerous congenital melanocytic nevi
Goldmann-Favre syndrome (disorder)
RETINITIS PIGMENTOSA 27
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
Enhanced S-Cone Syndrome
Peripapillary chorioretinal atrophy
Idiopathic megacolon
Rectal Tubular Adenoma
Plasmacytoma anaplastic
Serum creatinine low
Arterial calcification
Phosphoribosylpyrophosphate synthetase deficiency
Oliver-McFarlane syndrome
Aortic valve sclerosis
GLAUCOMA 1, OPEN ANGLE, O
FAMILIAL ADENOMATOUS POLYPOSIS 3
Neurogenic arthropathy
Neuropathy, Hereditary Sensory, X-Linked
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Neuropathy, Hereditary Sensory, Atypical
Postural hypotension with compensatory tachycardia
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
NEUROPATHY, HEREDITARY SENSORY, TYPE IF
Decreased number of small peripheral myelinated nerve fibers
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
Obesity, Hyperphagia, and Developmental Delay
Cellular Congenital Mesoblastic Nephroma
Osteosarcoma localised
DEAFNESS, AUTOSOMAL RECESSIVE 108
Congenital absence of uvula
Thoracic hemivertebra
Brachydactyly syndrome type B
Robinow syndrome, autosomal recessive
BRACHYDACTYLY, TYPE B1
Hypoplastic sacrum
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
Hypoplasia/agenesis of distal phalanges of toes
Midthoracic hemivertebrae
Aplasia/Hypoplasia of the distal phalanges of the toes
Hypoplastic female external genitalia
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Progressive calcification of costochondral cartilage
Triangular shaped distal phalanges of the hand
USHER SYNDROME, TYPE IC
Abnormality of cells of the granulocytic lineage
Hirschsprung disease 1
Substantia nigra gliosis
X-Linked Infantile Nystagmus
Pupillary abnormality
Hyperopic astigmatism
NYSTAGMUS 6, CONGENITAL, X-LINKED
Depigmented fundus
Letterer-Siwe Disease
HHH syndrome
Hyperornithinemia
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
Red hair
Brown oculocutaneous albinism
Autosomal recessive ocular albinism
ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
Oculocutaneous Albinism, Type IV
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
ALBINISM, OCULOCUTANEOUS, TYPE V
Swelling of finger
Wrist swelling
Benign neoplasm of central nervous system
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Dense posterior cortical cataract
Other specified nonscarring hair loss
Abnormal salivary gland morphology
Abnormal urine alpha-ketoglutarate concentration
Abnormality of Krebs cycle metabolism
Benign neoplasm of kidney
Mixed type cataract
Adult form of celiac disease
Behr syndrome
Inherited optic neuropathy
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)
OPTIC ATROPHY 1 AND DEAFNESS
Adductor longus contractures
Abnormal amplitude of pattern reversal visual evoked potentials
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)
Autosomal dominant optic atrophy plus syndrome
OPTIC ATROPHY 2 (disorder)
Prostate Lymphoma
Hydroxyprolinemia
Familial expansile osteolysis
Hydroxyprolinuria
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Disorganization of the anterior cerebellar vermis
Mega cisterna magna
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
Opioid withdrawal
Acute sciatica
ischemic pain
Narcotic Dependence
SCHIZOPHRENIA 12
Hypoplasia of spine
Accessory rib
Butterfly vertebrae
Microphthalmia, Isolated, with Cataract 2
Microphthalmia, Syndromic 3
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
Flat glenoid fossa
Absent sternal ossification
Absent glenoid fossa
Absent bone maturation in sternum
MEIER-GORLIN SYNDROME 2
Bilirubin measurement
Rhabdomyosarcoma 1
RHABDOMYOSARCOMA, SOMATIC
Disease of mucous membrane
Hereditary orotic aciduria, type 1
Vomiting, recurrent
VALPROATE SENSITIVITY
Bladder Exstrophy and Epispadias Complex
Retinal defect
Otocephaly
Synotus
Microphthalmia, Syndromic 5
Dysgnathia complex
SCHIZOPHRENIA 15
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
Aplasia/Hypoplasia of the nares
Absent nares
RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION
Syndromic microphthalmia type 5
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Deficiency of 3-oxoacid CoA-transferase
Hypertonia, Detrusor Muscle
Hypertonia, Infantile
Hypertonia, Neonatal
Hypertonia, Sphincter
Hypertonia, Transient
Facial Hemiatrophy
Atypical autism
Vaginal Hemorrhage
High-functioning autism
Bleeding Disorder Due To P2RY12 Defect
Impaired ADP-induced platelet aggregation
Post-mastectomy pain
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1
Cole Carpenter syndrome
Orbital craniosynostosis
COLE-CARPENTER SYNDROME 1
X-Linked Chondrodysplasia Punctata 1
Functional Laterality
Endometrioid adenoma
Urate nephropathy
Refractory anemia with excess blasts I
Chromosome 17p13.3 Duplication Syndrome
Soluble Transferrin Receptor Measurement
Activity intolerance
Blonde hair
Persistent hyperphenylalaninemia
Fair hair
Phenylpyruvic acidemia
Hyperphenylalaninemia, Non-Pku Mild
Maternal hyperphenylalaninemia
Reduced phenylalanine hydroxylase activity
Pneumonia due to Pseudomonas
Thrombosis of renal vein
Ruptured thoracic aortic aneurysm
Ruptured abdominal aortic aneurysm
Gastroduodenitis
Fibrous nodule
Livedoid
Thoracoabdominal aortic aneurysm, ruptured
Fibrinolytic Defect
Hereditary protein S deficiency
Plasminogen Activator Inhibitor-1 Deficiency
Radiation Nephropathy
Colorectal Adenomatous Polyp
PANCREAS EXOCRINE
Paratyphoid Fever
Lysine measurement
GLOMUVENOUS MALFORMATIONS
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
BARDET-BIEDL SYNDROME 11
Sporadic Parkinson disease
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
Congenital anomaly of spine
OTOFACIOCERVICAL SYNDROME 2
Orbital cyst
Oligomeganephronic hypoplasia of kidney
RENAL HYPOPLASIA, ISOLATED (disorder)
Morning glory anomaly
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES
Congenital Renal Hypoplasia
Klein's Syndrome
Vagina absent
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
Klein-Waardenberg's syndrome
Aplasia of the vagina
Craniofacial deafness hand syndrome
Autosomal dominant contiguous gene syndrome
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder)
Adenocarcinoma in tubulovillous adenoma
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 1
LEUKEMIA, ACUTE LYMPHOCYTIC, SUSCEPTIBILITY TO, 1
LEUKEMIA, B-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO
LEUKEMIA, T-CELL ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO
LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO
Foster-Kennedy Syndrome
Pseudopapilledema
Coloboma of lens
Aniridia type 1
Morning glory syndrome
Manifest-latent nystagmus
Optic Disk Disorders
Frasier Syndrome
Optic Nerve Hypoplasia, Bilateral
Optic Nerve Aplasia, Bilateral
Keratitis, hereditary
Foveal Hypoplasia, Isolated
Hereditary macular coloboma
Fetal microcephaly
O'Donnell Pappas syndrome
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
FOVEAL HYPOPLASIA 1
Autosomal dominant keratitis
ANIRIDIA, ATYPICAL
FOVEAL HYPOPLASIA 1 WITH CATARACT
FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES
Aplasia of optic nerve
Hypoplastic anterior commissure
Partial aniridia
Unilateral polymicrogyria
Abnormal best corrected visual acuity test
ANTERIOR SEGMENT DYSGENESIS 5
Tooth Agenesis, Selective, 3
Hyperlysinemias
Superficial thrombophlebitis
Neuronal loss in the cerebral cortex
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
Hyperphenylalaninemia with primapterinuria
Propionic acidemia, type II
Propionicaciduria
Phosphoenolpyruvate carboxykinase deficiency
Impaired gluconeogenesis
Phosphoenolpyruvate carboxykinase 2 deficiency
Kaposi's sarcoma of skin
Ovarian epithelial cancer stage I
stage, Kaposi's sarcoma
T-Cell and NK-Cell Neoplasm
Pilar and trichilemmal cysts
Moderately Differentiated Hepatocellular Carcinoma
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
DNA LIGASE I DEFICIENCY
Osteodysplastic primordial dwarfism
Acute diarrhea
Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
Pontocerebellar Hypoplasia Type 1
Congenital pontocerebellar hypoplasia type 8
Respiratory failure without hypercapnia
Proprotein Convertase 1 3 Deficiency
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder)
Lumbosacral agenesis
Sacral defect and anterior sacral meningocele
Caudal Dysgenesis Syndrome
Hypoglycemic shock
Decreased hip abduction
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Large central visual field defect
Familial Paget's disease of bone
Reasoning
Brachydactyly with hypertension
Striatal Degeneration, Autosomal Dominant
Ischaemic cerebral infarction
Elevated calcitonin
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
Hypoplasia of the nasal bone
Congenital craniofacial dysostosis
RETINITIS PIGMENTOSA 43
CONE DYSTROPHY 4 (disorder)
Achromatopsia 5
OROFACIODIGITAL SYNDROME VI
JOUBERT SYNDROME 22
RETINITIS PIGMENTOSA 57
Retinal Cone Dystrophy 3A
ACHROMATOPSIA 6
Bone Diseases, Endocrine
Dermatofibrosarcoma Protuberans, Myxoid
Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)
Sexual inhibition
Tic, Motor
Sarcoma of skin
Dense calcifications in the cerebellar dentate nucleus
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
Calcification of the small brain vessels
Congenital abnormality of respiratory system
Loeffler's Endocarditis
Eosinophilic granulomatous polyp
Regular astigmatism - corneal
Histiocytosis, generalized eruptive
Cerebral hygroma
Lymphoblastic T-cell lymphoma
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
RETINITIS PIGMENTOSA 40 (disorder)
Pulmonary capillary hemangiomatosis
Raised TSH level
Severe nonproliferative diabetic retinopathy
Myeloproliferative Neoplasm, Unclassifiable
Thin calvarium
Penttinen-Aula syndrome
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
Pdgfrb-Associated Chronic Eosinophilic Leukemia
Abnormality of connective tissue
KOSAKI OVERGROWTH SYNDROME
Thin skull bone
Pyruvate Metabolism, Inborn Errors
Nasal flaring
Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal
Ataxia with Lactic Acidosis, Type I
Pyruvate Dehydrogenase E1 Alpha Deficiency
Severe lactic acidosis
Oligosynaptic Infertility
Pyruvate Dehydrogenase E1-Beta Deficiency
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
Coronary Sclerosis, Medial, of Infancy
Cole disease
Generalized arterial calcification
Tropical Disease
Familial dyshormonogenetic goiter
Hearing Loss, Unilateral
Sensation Disorders
Special Senses Disorders
Slowed saccades
SPINOCEREBELLAR ATAXIA 23
Enterocolitis infectious
Osteogenesis Imperfecta, Type VI
Craniofacial Pain
Deficiency of prolidase
Diffuse telangiectasis
Abnormality of the middle ear
Crusting erythematous dermatitis
Deafness enamel hypoplasia nail defects
Hypoplastic olfactory lobes
Intrahepatic biliary dysgenesis
Peroxisome Biogenesis Disorder, Complementation Group 1
Peroxisome Biogenesis Disorder, Complementation Group E
Renal cortical microcysts
Very long chain fatty acid accumulation
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 11B
Abnormality of the eyelid
Elevated levels of phytanic acid
Thin eyebrow
Peroxisome Biogenesis Disorder, Complementation Group 4
Peroxisome Biogenesis Disorder, Complementation Group 6
Generalized neonatal hypotonia
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 4B
HEIMLER SYNDROME 2
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Calcific stippling of infantile cartilaginous skeleton
Peroxisome Biogenesis Disorder, Complementation Group 11
Peroxisome Biogenesis Disorder, Complementation Group R
Refsum Disease, Adult, 2
Peroxisome Biogenesis Disorder, Complementation Group 7
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 6B
Peroxisome Biogenesis Disorder, Complementation Group 3
PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOMAL BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
Central hypotonia
Peroxisome Biogenesis Disorder, Complementation Group 13
Breast size
Peroxisome Biogenesis Disorder, Complementation Group K
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Abnormality of the nasal bridge
Single cyst
Properdin Deficiency, Type II
Properdin Deficiency, Type III
Dysfunctional alternative complement pathway
Idiopathic rapidly progressive glomerulonephritis
Neonatal hepatitis
Abnormal liver function tests during pregnancy, resolves postpartum
Familial intrahepatic cholestasis of pregnancy
Cholestasis, Progressive Familial Intrahepatic, 2
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
Increased serum bile acid concentration during pregnancy, resolves
Increased serum bile acid concentration during pregnancy
Abnormal liver function tests during pregnancy
Intrahepatic cholestasis with episodic jaundice
Intermittent jaundice
Cardiomyopathy in other diseases classified elsewhere
Reduced erythrocyte 2,3-diphosphoglycerate concentration
AMYOTROPHIC LATERAL SCLEROSIS 18
Glycogen storage disease type X
Mitochondrial DNA mutation
Meckel syndrome type 3
Glycogen Storage Disease XIV
IMMUNODEFICIENCY 23
Infiltrating duct and lobular carcinoma
Neurothekeoma
Suppurative cholangitis
Sarcoma of liver
Postoperative Nausea
Nonmedullary thyroid carcinoma, with or without cell oxyphilia
Inflammatory Bowel Disease 13
Grade II Chondrosarcoma
Scott Syndrome
Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape
Low-output congestive heart failure
Dentin, Secondary
Trapezoidal distal femoral condyles
Shortening of the talar neck
Flattening of the talar dome
Hypomineralization of enamel of tooth
Increased porosity of tooth enamel
White spot lesions of tooth enamel
Fluorosis of tooth enamel
Glycogen Storage Disease, Type IXD
Liver Glycogenosis, X-Linked, Type II
Glycogen Storage Disease, Type IXA2
Glycogen Storage Disease IXC
GLYCOGEN STORAGE DISEASE IXa1
Glycogen Storage Disease IXB
Mauriac's syndrome
Refsum Disease, Adult, 1
Esophageal and Gastric Varices
Panniculitis, Nodular Nonsuppurative
Obstructive emphysema
Chronic disease of respiratory system
Pancreatoblastoma
Well Differentiated Hepatocellular Carcinoma
DEAFNESS, AUTOSOMAL RECESSIVE 91
Interleukin 2 Measurement
PEELING SKIN SYNDROME 5
Epileptic Syndromes
Cold paroxysmal hemoglobinuria
Immune Hemolytic Anemia
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
Abnormality of the pons
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16
Marasmus
Malignant neoplasm of floor of mouth
Lichenoid actinic keratosis
EBV-Related Lymphoma
Flat Ductal Epithelial Atypia of the Breast
Mucinous carcinoma of breast
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Macrodactyly of the foot
COWDEN SYNDROME 5
ACTIVATED PI3K-DELTA SYNDROME
Acute exacerbation of chronic obstructive bronchitis
viral leukemogenesis
Trisomy 15
Pyelonephritis acute necrotizing
Activated PI3 kinase delta syndrome
Refractory Classical Hodgkin Lymphoma
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
IMMUNODEFICIENCY 36
Thick corpus callosum
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
Acquired phimosis
Cystic Breast Disease
Astrocytic hamartoma
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
Radially deviated wrists
Abnormality of the distal phalanx of finger
Polycoria
IRIDOGONIODYSGENESIS, TYPE 2
Abnormally prominent line of Schwalbe
RING DERMOID OF CORNEA
Aphakia
CATARACT, POSTERIOR POLAR, 4 (disorder)
Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities
CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES
Cataract glaucoma syndrome
Ventral Hernia
Benign Schwannoma
Oedema vascular
Polycystic kidneys, severe infantile with tuberous sclerosis
Potter Type III Polycystic Kidney Disease
Moderate neural deafness
Elevated diastolic blood pressure
Polycystic kidney disease, type 1
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced red cell pyruvate kinase activity
Multiple cysts
Caroli disease isolated
Absence of renal corticomedullary differentiation
Multiple pancreatic cysts
Hypoplasia of the ear cartilage
Recurrent Thyroid Carcinoma
Ventricular aneurysm
Dilatation of the ventricular cavity
Allergic bronchitis
PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF
Cryptogenic multifocal ulcerous stenosing enteritis
Fleck Retina, Familial Benign
Skin appendage adenoma
Lipoblastomatosis
Benign lipomatous tumor
Pleomorphic adenoma of lacrimal gland
Hypertrophy of labia
Cardiac Tamponade
Intracranial Embolism and Thrombosis
Choking
Hematoma, Subdural
Hemopericardium
Cholesterol Embolism
Chylopericardium
Low Back Pain, Mechanical
Low Back Pain, Posterior Compartment
Back Pain without Radiation
Subdural Hematoma, Traumatic
Low Back Pain, Postural
Arteriovenous graft
Back Pain with Radiation
Conus Medullaris Syndrome
Vertebrogenic Pain Syndrome
Recurrent Low Back Pain
Hematoma, Epidural, Spinal
Cerebral Embolism and Thrombosis
Brain Embolism and Thrombosis
Embolus
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator
Graft Occlusion, Vascular
Heart Rupture, Post-Infarction
Systemic fibrinogenolysis
Refractory frontal lobe epilepsy
ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO
Impaired epinephrine-induced platelet aggregation
AURICULOCONDYLAR SYNDROME 2
Leukonychia punctata
Leukonychia totalis
LEUKONYCHIA STRIATUS
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
Urethral diverticulum
Cardiac Valvular Defect, Developmental
aberrant right subclavian artery
Orthomyxoviridae Infections
Swine influenza
Epidermolysis bullosa simplex, Ogna type
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
Focal Infection
Pleural effusion associated with pulmonary infection
Flea Infestation
Membranous conjunctivitis
Pneumonic Plague
Fibrinolytic disorder
Disorder of circulatory system
Streptococcal infection of skin
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
Chronic irritative conjunctivitis
PLASMINOGEN DEFICIENCY, TYPE II
Decreased level of plasminogen
Hemothorax
Familial hemorrhagic diathesis
Alpha-2-antiplasmin deficiency
Other specified coagulation defects
Anti-plasmin deficiency, congenital
Reduced euglobulin clot lysis time
Insulin-resistant diabetes mellitus at puberty
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
Transitional cell carcinoma of kidney
CARDIOMYOPATHY, DILATED, 1P
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18
Rupture of artery
Ehlers-Danlos syndrome type 6
Macrocephaly at birth
Progressive congenital scoliosis
Nevo syndrome (disorder)
Spontaneous rupture of the globe
Cleft Soft Palate
Bruck syndrome
Bruck syndrome 2
Bruck syndrome 1
Aplasia/hypoplasia of the femur
Pterygium of eye
Rotary Nystagmus
Hereditary X-Linked Recessive Spastic Paraplegia
Head titubation
Spastic/hyperactive bladder
Degeneration of the lateral corticospinal tracts
Increased susceptibility to schizophrenia
PELIZAEUS-MERZBACHER DISEASE, CONNATAL
PELIZAEUS-MERZBACHER DISEASE, MILD
Reduction of oligodendroglia
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18
Optic Disk Drusen
OCCULT MACULAR DYSTROPHY
Prosthesis Loosening
Hypergranular promyelocytic leukemia
Hyperfibrinolysis
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
Congenital Disorder Of Glycosylation, Type Im
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
Olivopontocerebellar hypoplasia
Congenital Disorder Of Glycosylation, Type In
Congenital Disorder of Glycosylation, Type Io
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 1X
Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
Congenital disorder of glycosylation type 1y
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1s
Locked-In Syndrome
Nerve paralysis
Idiopathic Myoclonic Epilepsy
Symptomatic Myoclonic Epilepsy
Early Childhood Epilepsy, Myoclonic
Myoclonic Absence Epilepsy
Cranial Neuropathies, Multiple
Benign Infantile Myoclonic Epilepsy
Flaccid Quadriplegia
Paralysis, Spinal, Quadriplegic
Chromosome 17, trisomy 17p
Disorder of hand
AMYOTROPHY, HEREDITARY NEURALGIC
Charcot-Marie-Tooth disease and deafness
Charcot-Marie-Tooth disease, Type 1E
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS
Myelin tomacula
Acute demyelinating polyneuropathy
Benign Supratentorial Neoplasms
Cancer, Supratentorial
Primary Supratentorial Neoplasms
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
Congenital retrognathism
Tongue absent
Maxillary Retroposition
Maxillary Retrusion
Mandibular Retroposition
Mandibular Retrusion
Pancreatic triacylglycerol lipase deficiency
Pancreatic colipase deficiency
PANCREATIC LIPASE DEFICIENCY
COLIPASE, CONGENITAL ABSENCE OF PANCREATIC
LIPASE AND COLIPASE, DEFICIENCY OF
LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC
Atypical juvenile parkinsonism
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
N syndrome
Generalized reticulate brown pigmentation
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
Endometrial Undifferentiated Carcinoma
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
Telangiectases of the cheeks
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
Atrophy/Degeneration involving the spinal cord
Sensory ataxic neuropathy
Infantile onset spinocerebellar ataxia
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
Cerebral cortical neurodegeneration
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
Ataxia Neuropathy Spectrum
Impaired distal proprioception
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY
EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY
Xeroderma pigmentosum, variant form
Xeroderma pigmentosum, variant type
Waardenburg Syndrome, Type 4c
Eye pain
Diplegic Infantile Cerebral Palsy
Cerebral Palsy, Quadriplegic, Infantile
Monoplegic Infantile Cerebral Palsy
Bladder pain
Chronic pulmonary heart disease
Athetoid cerebral palsy
Monoplegic Cerebral Palsy
Idiopathic hypopituitarism
Micronodular adrenal hyperplasia
Cerebral Palsy, Dystonic-Rigid
Cerebral Palsy, Atonic
Congenital Cerebral Palsy
Cerebral Palsy, Mixed
Cerebral Palsy, Rolandic Type
Facial Palsy, Upper Motor Neuron
Facial Palsy, Lower Motor Neuron
Hemifacial Paralysis
Inappropriate ACTH Secretion Syndrome
Ectopic hormone secretion syndromes associated with neoplasias
Pyogenic Sacroiliitis
Septic Sacroiliitis
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
Obesity hypoventilation syndrome (OHS)
Agricultural Workers' Diseases
Hyperemesis Gravidarum
Double coronary vessel disease
Enzyme activity finding
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding)
CORONARY ARTERY SPASM 2, SUSCEPTIBILITY TO
Three Vessel Coronary Disease
Vesicovaginal Fistula
Pear-shaped nose
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
Abnormalities of placenta or umbilical cord
Hypoplastic pituitary gland
Stapes fixation
cervical abnormality
Deafness, Autosomal Dominant 15
Mediastinal seminoma
Intrauterine adhesions
sympathomimetic disorder
HYPERAPOBETALIPOPROTEINEMIA, SUSCEPTIBILITY TO
Lipodystrophy, not elsewhere classified
Chronic metabolic disorder
Carotid Intimal Medial Thickness 1
Increased carotid artery intimal medial thickness
GALACTOSIALIDOSIS, LATE INFANTILE
GALACTOSIALIDOSIS, ADULT
GALACTOSIALIDOSIS, EARLY INFANTILE
OSTEOGENESIS IMPERFECTA, TYPE IX (disorder)
Cystinuria
Hypotonia-Cystinuria Syndrome
2p21 microdeletion syndrome
Porphyruria
Homozygous variegate porphyria
VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
hereditary Wilms' tumor (WT1)
Ovarian clear cell carcinoma
Deviation of the 5th finger
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
Childhood Teratoma
Spinocerebellar Ataxia 12
Ataxic tremor
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD
Mass lesion of brain
CEROID LIPOFUSCINOSIS, NEURONAL, 1
Apudoma
Sacculation
Retrograde amnesia
Euthymic mood
Pre-Ictal Amnesia
Retrograde Memory Loss
Pre-Ictal Memory Loss
Familial Hemophagocytic Lymphocytosis
Edema, generalized
Adolescent Gynecomastia
Aleutian Mink Disease
Homozygous protein C deficiency
Heterozygous protein C deficiency
Homozygous protein S deficiency
Chilblains
Louping Ill
Adrenal hemorrhage
Hereditary protein C deficiency
Arthrogryposis multiplex congenita, distal type 2
Preeclamptic toxemia
Thromboembolism in children
Lung cyst
Critical illness myopathy
Buffalo hump
Pigmented micronodular adrenocortical disease
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC
Primary pigmented nodular adrenocortical disease
Qualitative platelet deficiency
BLEEDING DISORDER, PLATELET-TYPE, 19
Large cell calcifying Sertoli cell tumor
Myxoid subcutaneous tumors
Atrial myxoma, familial
Carney Complex, Type 2
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test
Thyroid follicular hyperplasia
Intracardiac myxoma
Congenital dermal melanocytosis
Neonatal epiphyseal stippling
Abnormality of circulating adrenocorticotropin level
Peripheral Schwannoma
Pulmonic valve myxoma
Abnormal neuron morphology
Feeding behaviors
Papillary glioneuronal tumor
Pulsus trigeminus
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
Alpha carotene level
Spinocerebellar ataxia 14
Impaired vibration sensation at ankles
Polymorphous low grade adenocarcinoma of salivary gland
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
Massive Hepatic Necrosis
Severe combined immunodeficiency with low T- and B-cell numbers
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe combined immunodeficiency with sensitivity to ionizing radiation
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
IMMUNODEFICIENCY 26 WITHOUT NEUROLOGIC ABNORMALITIES
AORTIC ANEURYSM, FAMILIAL THORACIC 8
Disseminated Juvenile Xanthogranuloma
JC virus infection
Noonan-Like Syndrome With Loose Anagen Hair
Disease caused by Shigella flexneri
Precapillary pulmonary hypertension
Ovarian epithelial cancer stage II
Splenic diffuse red pulp small B-cell lymphoma
Abnormality of the palpebral fissures
Hyperkeratosis pilaris
Abnormal ventricular septum morphology
Abnormality of lateral ventricle
Acute motor sensory axonal neuropathy
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
Puerperal Disorders
Explosive personality disorder
Galactorrhea not associated with childbirth
Physiological Sexual Disorders
Galactorrhea associated with childbirth
Infant Gynecomastia
Invasive pituitary adenoma
MULTIPLE FIBROADENOMAS OF THE BREAST
Akinetic Mutism
Kuru
Jaw pain
CNS DEGENERATION
Colloid Cysts
Human Transmissible Spongiform Encephalopathies, Inherited
Wasting Disease, Chronic
Deficit in phonologic short-term memory
SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
Extrapyramidal muscular rigidity
Loss of facial expression
Diffuse spongiform leukoencephalopathy
HUNTINGTON DISEASE-LIKE 1
Creutzfeldt-Jakob Disease, Heidenhain Variant
Mesial temporal sclerosis
Basal ganglia gliosis
Amyloidosis, Cerebral, with Spongiform Encephalopathy
Central nervous system degeneration
Progressive forgetfulness
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
EEG with persistent abnormal rhythmic activity
Progressive extrapyramidal muscular rigidity
Focal T2 hyperintense basal ganglia lesion
Familial Creutzfeldt-Jakob
Spongiform encephalopathy
Familial Alzheimer-like prion disease
Forgetfullness
Poor visual behavior for age
Renal thrombosis
Warfarin-induced skin necrosis
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Protein C Deficiency, Acquired
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
Congenital thrombotic disease, due to Protein C deficiency
Hyperprolinemia
Proline dehydrogenase deficiency
Prolinuria
SCHIZOPHRENIA 4 (disorder)
Prolactin Deficiency, Isolated
Pituitary mass
Pituitary Dwarfism Type 3
Central Hypogonadism
Congenital ectopia
Anterior pituitary hormone deficiency
Recurrent pulmonary embolism
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant
Reduced protein S activity
Kaposiform Hemangioendothelioma
Peripheral degeneration of retina
Pattern dystrophy of the retina
Uric acid urolithiasis
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
DEAFNESS, X-LINKED 1 (disorder)
Phosphoribosylpyrophosphate Synthetase Superactivity
Hearing Loss
Spinal cord posterior columns myelin loss
Pancreatic trypsinogen deficiency
Pancreatic symptom
PANCREATITIS, CHRONIC, PROTECTION AGAINST
Pancreatic calcification
Pancreatitis, Calcific
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
Malpuech facial clefting syndrome
Oculopalatoskeletal syndrome
Carnevale syndrome
Single interphalangeal crease of fifth finger
Caudal appendage
Large fleshy ears
Craniofacial ulnar renal syndrome
Simple Partial Seizures
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
Generalized tonic-clonic seizures with focal onset
Auditory auras
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
MYOTILINOPATHY
Enterokinase Deficiency
Hypoproteinemic edema
Pseudoscarlatina
Vision Impairment and Blindness
Confluent drusen
Pseudobulbar signs
Perivascular spaces
Macular Degeneration, Age-Related, 7
MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE, SUSCEPTIBILITY TO
Hyperintensity of cerebral white matter on MRI
Dilated cerebral perivascular spaces
Diffuse white matter abnormalities
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
Status cribrosum
wegener's granuloma
Metachromatic Leukodystrophy due to Saposin B Deficiency
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
Increased cerebral lipofuscin
Generalized clonic seizures
Visual Agnosia
Prosopagnosia
Perifolliculitis
Kluver-Bucy Syndrome
Frontal lobe syndrome
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
DYSTONIA 16 (disorder)
ACNE INVERSA, FAMILIAL, 3
Cardiomyopathy, Dilated, 1u
ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS
Cardiomyopathy, Dilated, 1V
Miller Fisher Syndrome
Nakajo syndrome
Hypertensive heart and renal disease
Strumal carcinoid
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2 (disorder)
HTLV-II Infections
Scab
STANKIEWICZ-ISIDOR SYNDROME
Deficiency of phosphoserine phosphatase
TARP syndrome
MYOPATHY, DISTAL 2
FH: Depression
sensory perception of bitter taste
THIOUREA TASTING
PHENYLTHIOCARBAMIDE TASTING
PTC TASTING
PROPYLTHIOURACIL TASTING
PROP TASTING
Dentigerous Cyst
Jaw Cysts
Basal Cell Neoplasm
Congenital fusion of ribs
Fetal rhabdomyoma
Odontogenic tumor, benign
Calcifying Epithelial Odontogenic Tumor
Superficial basal cell carcinoma
Cardiac fibroma
Cardiac rhabdomyoma
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Malignant basal cell tumor
Fusion of the left and right thalami
HOLOPROSENCEPHALY 7
Basal cell carcinoma, multiple
Hamartomatous polyp of stomach
Sella Turcica, Bridged
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
Basal Cell Carcinoma, Nonsyndromic
9q22.3 Microdeletion
Fusion of thamali
Absent nasal septal cartilage
Flat nasal alae
Thickened ears
Irregular ossification of hand bones
Failure of development of nasal septal cartilage
Anisometropia
Intussusception
Abnormality of the vasculature
Cronkhite-Canada Syndrome
Gastric Hamartoma
Cystadenocarcinoma of kidney
Colitis, Microscopic
Shagreen patch
Supraglottic Squamous Cell Carcinoma
Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)
Cervical Endometrioid Adenocarcinoma
Endometrial intraepithelial neoplasia
Meningeal Gliomatosis
Endometrial Cyst
CEREBELLOPARENCHYMAL DISORDER VI
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Parkinson Disease 6, Autosomal Recessive Early-Onset
MACROCEPHALY/AUTISM SYNDROME
Postnatal macrocephaly
GLIOMA SUSCEPTIBILITY 2
Atypical nevi in non-sun exposed areas
Abnormality of the large intestine
Abnormality of the parathyroid gland
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
Medulloblastoma of cerebellum
Asthma, Nasal Polyps, And Aspirin Intolerance
Elevated mean arterial pressure
Osteitis Fibrosa Cystica
Jansen type metaphyseal chondrodysplasia
Vascular stenosis
Transient hypoparathyroidism
Hypoparathyroidism, Autosomal Recessive
Chondrodysplasia, blomstrand type
Primary hypoparathyroidism
Sleep Deprivation
Insufficient Sleep Syndrome
REM Sleep Deprivation
Sleep Fragmentation
Chronic cystitis
Germinal inclusion cyst of ovary
Congenital webbing
Congestive Ophthalmopathy
Myopathic Ophthalmopathy
Superior Vena Cava Syndrome
Superior Vena Cava Thrombosis
Carcinoma bone
Hepatocellular carcinoma, scirrhous
BRACHYDACTYLY, TYPE E2
Failure of tooth eruption
Prominent supraorbital arches in adult
Eiken Skeletal Dysplasia
Advanced ossification of carpal bones
Advanced tarsal ossification
Failure of Tooth Eruption, Primary
High iliac wings
Failure of eruption of permanent teeth
Abnormality of the fingertips
Accelerated ankle bone maturation
Unerupted adult dentition
Accelerated wrist bone maturation
Sacrococcygeal agenesis
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acholic stool
Neoplasia of the biliary tract
Calcification of muscle
HEART DISPLACEMENT
Congenital absence of ovary
Cleft leaflet of mitral valve
Forebrain Defects
Dysplastic pulmonary valve
Swine influenza virus (viruses that normally cause infections in pigs)
Multiple digital exostoses
Hereditary oculoleptomeningeal amyloid angiopathy
Pulmonary Arteriovenous Fistulas
Congenital pulmonary arteriovenous malformation
CHOANAL ATRESIA AND LYMPHEDEMA
Non-specific colitis
Metastatic Ewing's Sarcoma
Metastatic tumors of the Ewing's family
Congenital absent nipple
Congenital absence of breast with absent nipple
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
Mental Processes
NEPHROTIC SYNDROME, TYPE 6
Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DUE TO PARTIAL PTS DEFICIENCY
Lung Diseases, Fungal
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
Allergy to fish
Encephalitis, Polio
Poliomyelitis, Nonpoliovirus
Poliomyelitis, Preparalytic
Poliomyelitis, paralytic
Infantile paralysis
B Virus Infection
OROFACIAL CLEFT 7
Abnormality of the philtrum
Progressive hypotrichosis
Zlotogora-Ogur syndrome
Peroxisome Biogenesis Disorder, Complementation Group 14
Peroxisome Biogenesis Disorder, Complementation Group J
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
Abnormality of the male genitalia
Abnormality of the hairline
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
Decreased adenosylcobalamin
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F
PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10
Stippled chondral calcification
Vertical Nystagmus
Cerebrohepatorenal Syndrome, Variant Types
PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Dysgenesis of corpus callosum
Geroderma osteodysplastica
Cutis Laxa, Autosomal Recessive, Type IIB
Cutis laxa, recessive
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
De Barsy syndrome
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
Dysfunction of lateral corticospinal tracts
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUTIS LAXA, AUTOSOMAL DOMINANT 3
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
MCARDLE DISEASE, MILD
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
SPLIT-HAND/FOOT MALFORMATION 3
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
Neutrophil Immunodeficiency Syndrome
Phagocytic immunodeficiency
Abnormality of neutrophil physiology
Congenital muscular hypertrophy-cerebral syndrome
Cornelia de Lange Syndrome 3
CORNELIA DE LANGE SYNDROME 4
MIRROR MOVEMENTS 2
FANCONI ANEMIA, COMPLEMENTATION GROUP R
Congenital atresia of rectum
FANCONI ANEMIA, COMPLEMENTATION GROUP O
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
Meigs Syndrome
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
LEOPARD SYNDROME 2
Noonan Syndrome 5
CARDIOMYOPATHY, DILATED, 1NN
Histiocytic medullary reticulosis (disorder)
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
Combined Cellular And Humoral Immune Defects With Granulomas
Reticuloendotheliosis, familial, with eosinophilia
Typhlitis
Other combined immunodeficiencies
Polyneuritis
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
Familial acute necrotizing encephalopathy
Eversion of lateral third of lower eyelids
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
MICROPHTHALMIA, SYNDROMIC 12
Pontocerebellar Hypoplasia Type 6
LEUKODYSTROPHY, HYPOMYELINATING, 9
Arterivirus Infections
Vascular hamartoma of skin
Hypertrophy of upper limb
Warburg Sjo Fledelius syndrome
Hypertrophy of the lower limb
Malignant neoplasm of retina
Leukocoria
Retinal Neoplasms
Intraurothelial Neoplasia
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
Retinal calcification
Trilateral Retinoblastoma
Chromosome 13q14 deletion syndrome
Abnormality of the tibial metaphysis
Abnormality of the femoral metaphysis
Abnormality of the wide portion of the femoral bone
Vulvar Adenocarcinoma of Mammary Gland Type
microcephaly-digital anomalies syndrome
Absent fourth finger distal interphalangeal crease
Few cafe-au-lait spots
RETINITIS PIGMENTOSA 66
Keratomalacia
Xerotic keratitis
Acquired Fanconi syndrome
Comedonal acne
Retinol Deficiency
Microphthalmia associated with colobomatous cyst
Peripheral retinal atrophy
RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
Comedogenic acne
COLORBLINDNESS, PARTIAL, PROTAN SERIES
Cancer-Associated Retinopathy
Retinal flecking
Retinitis punctata albescens (disorder)
FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE
Metamorphopsia
Rod dystrophy
Retinitis Pigmentosa 7, Digenic
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
LEBER CONGENITAL AMAUROSIS 18
Reticular retinal dystrophy
Adult-onset night blindness
obsolete Peripheral retinopathy
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
DEAFNESS, AUTOSOMAL RECESSIVE, 24
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Disease caused by Shigella boydii
IMMUNODEFICIENCY 53
Fibromuscular Dysplasia
Metabolic acidosis, NAG, acidifying salts
Hyperchloremia
High-renin essential hypertension
Arteriovenous fistula stenosis
Hypertensive urgency
Cerebral artery stenosis
Cardio-Renal Syndrome
Hyperuricemic Nephropathy, Familial Juvenile 2
Heart failure with normal ejection fraction
Hyperechogenic kidneys
HYPERPRORENINEMIA, FAMILIAL
Pancreatic Adenosquamous Carcinoma
WILMS TUMOR, SUSCEPTIBILITY TO
metastatic parathyroid cancer
Total intestinal aganglionosis
Lobulated tongue
Hypoganglionosis
thyroid nodule solitary
MARDEN-WALKER SYNDROME
Fistula of genitourinary tract
Thyroid Hyalinizing Trabecular Adenoma
Episodic hypertension
Papillary carcinoma of the breast
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Abnormality of the integument
Mobius II syndrome
Aplasia of the pectoralis major muscle
Major histocompatibility complex class II deficiency
RETINITIS PIGMENTOSA 44
Blood Pressure Disorders
Rh Deficiency Syndrome
Rh-Null, Regulator Type
RH-MOD SYNDROME
Hemolytic disease of fetus OR newborn due to RhD isoimmunization
Anti-D isoimmunization affecting pregnancy
RHD CATEGORY D-VII
RHD, WEAK D, TYPE I
Scotopic sensitivity
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Cataract Adverse Event
Retinal Detachment Adverse Event
Retinitis Pigmentosa 4
Retina--Diseases
RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
Unilateral strabismus
obsolete Rod-cone dystrophy
OGUCHI DISEASE 2
NOONAN SYNDROME 8
Newfoundland Rod-Cone Dystrophy
Bothnia Retinal Dystrophy
Congenital stenosis
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Anauxetic dysplasia
Flaring of lower rib cage
Susceptibility to chickenpox
Biconvex vertebral bodies
sparse facial hair
Bacterial sinusitis
Hormone secreting pituitary neoplasms
OGDEN SYNDROME
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
Specific reading disorder
Developmental reading disorder
Vesicoureteral Reflux 2
Seborrheic dermatitis of scalp
Scurfiness of scalp
IMMUNODEFICIENCY 42
Advanced lung cancer
CONE-ROD DYSTROPHY, X-LINKED, 1
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
MACULAR DEGENERATION, X-LINKED ATROPHIC
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
Congenital ankyloblepharon
B-cell lymphoma unclassifiable with features intermediate between classical Hodgkin lymphoma and diffuse large B-cell lymphoma
RAPP-HODGKIN SYNDROME
Flattened or absent electroretinogram (ERG)
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
Retinitis Pigmentosa 20
Chronic ulcerative stomatitis
Severe early childhood onset retinal dystrophy
tonsillopharyngitis
Aase syndrome
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
Sacral lipoma
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
Small hypothenar eminence
Diamond-Blackfan Anemia 7
Diamond-Blackfan Anemia 1
DIAMOND-BLACKFAN ANEMIA 12
Elevated red cell adenosine deaminase activity
HYPOTRICHOSIS 12
Forearm reduction defects
DIAMOND-BLACKFAN ANEMIA 11
DIAMOND-BLACKFAN ANEMIA 16
Adiadochokinesis
Cerebellar Hemiataxia
Hypermetria (finding)
Diamond-Blackfan Anemia 5
Chronic secretory otitis media
47, XYY syndrome
HER-2 positive breast cancer
Sternum bifidum
Thick nasal septum
Lumbar kyphosis
Drumstick terminal phalanges
Inflammatory disorder of breast
Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9
Refractory macrocytic anemia
Diamond-Blackfan Anemia 4
Subacute thyroiditis
Enthesopathy
Decreased erythroid precursor production
Posterior column ataxia
Ductal plate malformation
Bifid thoracic vertebrae
Hypoplastic sacral vertebrae
Hypoplastic coccygeal vertebrae
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY
Anemia, Diamond-Blackfan, 3
Diamond-Blackfan Anemia With Microtia And Cleft Palate
Diamond-Blackfan Anemia 10
DIAMOND-BLACKFAN ANEMIA 17
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
DIAMOND-BLACKFAN ANEMIA 13
Congenital anomaly of retina
Congenital retinal aneurysm
Retinoblastoma, differentiated
Retinoschisis, Degenerative
RP23 gene
Cystic retinal degeneration
Electronegative electroretinogram
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)
Exertional rhabdomyolysis (disorder)
Camptocormia
Barber Say syndrome
King Denborough syndrome
Mixed respiratory and metabolic acidosis
3-Methylglutaconic Aciduria Type IV
Minicore Myopathy, Moderate, with Hand Involvement
Multicore Myopathy, Moderate, with Hand Involvement
Multiminicore Disease, Moderate, with Hand Involvement
NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)
Malignant hyperthermia susceptibility type 1
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
Type 1 and type 2 muscle fiber minicore regions
Syncope, Effort
Caffeine dependence
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
Effort-induced polymorphic ventricular tachycardias
Malignant desmoplastic melanoma
Parachordoma
Meibomian gland dysfunction
Histiocytosis with joint contractures and sensorineural deafness
Salivary Gland Low Grade Cribriform Cystadenocarcinoma
Asymptomatic Infections
Bakers' asthma
Hyperzincemia and Hypercalprotectinemia
Gastroduodenal disorder
Carcinoma showing thymus-like element
Dilation of the thoracic aorta
Hematoma
HERMANSKY-PUDLAK SYNDROME 5
RETINITIS PIGMENTOSA 47
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
Middle Lobe Syndrome
Rectoperineal fistula
Congenital urethral valve
Townes-Brocks-Branchiootorenal-Like Syndrome
Stahl ear
Pseudoepiphyses of second metacarpal
Aplasia/Hypoplasia of the 3rd toe
Satyr ear
Primary atypical pneumonia
Diffuse alveolar damage
Atypical pneumonia
Middle Eastern Respiratory Syndrome
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
Bone Surface (Peripheral) Osteosarcoma
Perifollicular fibrosis
Keratosis Follicularis Spinulosa Decalvans, X-Linked
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Lumbosacral meningocele
Abnormality of the thoracic spine
Paternal anticipation bias
Dorsal column degeneration
Genetic anticipation with paternal anticipation bias
Calcaneal apophysitis
Amish Infantile Epilepsy Syndrome
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13
Vision Disorders
Cerebellar Gait Ataxia
Micropsia
Macropsia
Gait Ataxia, Sensory
Vision Disability
Poor short-term memory
Generalized Epilepsy With Febrile Seizures Plus, Type 4
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
Migraine, Familial Hemiplegic, 3
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
Generalized Epilepsy With Febrile Seizures Plus, Type 6
Febrile Convulsions, Familial, 3a
Generalized Epilepsy With Febrile Seizures Plus, 7
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8
FEBRILE SEIZURES, FAMILIAL, 3B
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
MYOCLONIC-ATONIC EPILEPSY
Brugada ECG Pattern
Brugada Syndrome 5
ATRIAL FIBRILLATION, FAMILIAL, 13
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
Late onset epilepsy
Epilepsy, Benign Neonatal, 3
Normal interictal EEG
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Dialeptic seizures
Focal seizures, afebril
ATRIAL FIBRILLATION, FAMILIAL, 14
Cryptogenic Partial Complex Epilepsy
Epilepsy, Symptomatic, Partial Complex
Epilepsy in children
Normokalemic Periodic Paralysis
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
Normokalemic Periodic Paralysis, Potassium-Sensitive
Paramyotonia Congenita Without Cold Paralysis
Hypokalemic Periodic Paralysis, Type 2
LARYNGOSPASM, SEVERE NEONATAL EPISODIC
MYASTHENIC SYNDROME, CONGENITAL, 16
Hyperkalemic Periodic Paralysis Type 2
Myasthenic Syndrome due to Mutation in SCN4A
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
Paradoxical myotonia
Acetazolamide responsive myotonia
T wave alternans
Long Qt Syndrome 10
ATRIAL FIBRILLATION, FAMILIAL, 17
Left Bundle-Branch Block
Bradycardia-tachycardia syndrome
Ventricular escape rhythm
Nodal rhythm disorder
Left anterior fascicular block
Neurally mediated syncope
Other specified cardiac arrhythmias
Lenegre's disease
sick sinus
Ectopic rhythm
Supraventricular tachyarrhythmia
CARDIOMYOPATHY, DILATED, 1E
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)
Heart Block, Nonprogressive
Cardiac Conduction Defect, Nonprogressive
Premature contractions
Sudden unexpected nocturnal death syndrome
ATRIAL FIBRILLATION, FAMILIAL, 10
LONG QT SYNDROME 3/6, DIGENIC Disorder
ATRIAL STANDSTILL 1, DIGENIC
Complete heart block with broad QRS complexes
Developmental stagnation at onset of seizures
Paroxysmal choreoathetosis
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
Indifference to pain
Anal pain
Adult-onset is referred to as small fiber neuropathy
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
EPISODIC PAIN SYNDROME, FAMILIAL, 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3
Infantile encephalopathy AND lactic acidosis
Immunoglobulin G4 deficiency
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
Abnormality of thalamus morphology
Abnormal motor neuron morphology
Human metapneumovirus infection
Endocervicitis
lip and oral cavity squamous cell carcinoma
Cryoglobulinemic glomerulonephritis
Lyme Neuroborreliosis
Late onset asthma
Acute viral bronchiolitis
Yusho Disease
Aphakic glaucoma
Paragonimiasis
Influenza NEC
Gonococcal urethritis
Sclerosing peritonitis
non-gonococcal urethritis (NGU)
Secondary malignant neoplasm of small intestine
edema disease
Mucoepidermoid carcinoma of salivary gland
Right Flank Pain
CARDIOMYOPATHY, DILATED, 1GG
PARAGANGLIOMAS 5
Respiratory complex II deficiency
Decreased activity of mitochondrial complex II
Stress/infection-induced lactic acidosis
Succinate-coenzyme Q reductase deficiency
Cardiac Paraganglioma
Malignant Paraganglionic Neoplasm
PARAGANGLIOMAS 4
COWDEN SYNDROME 2
Hypertension associated with pheochromocytoma
Aphonia
PARAGANGLIOMAS 3
Elevated circulating catecholamine level
Erythematous plaque
Parasympathetic paraganglioma
Carcinoid tumor of intestine
Glomus vagale tumor
Cauda Equina Paraganglioma
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
Glomus tympanicum paraganglioma
Paragangliomas with Sensorineural Hearing Loss
PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS
Glomus Tumors, Familial, 1
Fatal infantile mitochondrial cardiomyopathy
COWDEN SYNDROME 3
Intestinal carcinoid
Violaceous plaque
Hump-shaped mound of bone in central and posterior portions of vertebral endplate
Phlebitis
Diabetic maculopathy
Chudley-Mccullough syndrome
Hemoglobin SS disease with crisis
Mucin-producing adenocarcinoma
P-Selectin Measurement
Brachial plexus lesion
Emphysema or COPD
Low Grade Endometrial Stromal Sarcoma
Picornaviridae Infections
Surfactant Metabolism Dysfunction, Pulmonary, 1
RDS - infants
Surfactant Dysfunction
Multiple lung cysts
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
Chronic pneumonitis of infancy
Secondary pulmonary alveolar proteinosis
Word finding difficulty (disorder)
Autosomal recessive limb girdle muscular dystrophy type 2D
Pelvic girdle muscle atrophy
Limb-girdle muscular dystrophy type 2F
CARDIOMYOPATHY, DILATED, 1L
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Abnormality of carbohydrate metabolism/homeostasis
Relative afferent pupillary defect
Retraction of lower eyelid
SPLIT-HAND/FOOT MALFORMATION 2
Longitudinal deficiency of radius
Talipomanus
Manus vara
Chromosome 2, trisomy 2p
Recurrent Medulloblastoma
Midnasal stenosis
HOLOPROSENCEPHALY 3
Syndactyly, Type IV
POLYDACTYLY, PREAXIAL II (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)
Fibular duplication
1-5 finger syndactyly
Abnormality of limb bone morphology
Hypoplastic tibia and postaxial polydactyly syndrome
Lowry Wood syndrome
Limited wrist movement
Dorsal subluxation of ulna
Forearm undergrowth
Mesomelic/rhizomelic limb shortening
Ulnar radial head dislocation
Abnormality of calvarial morphology
Abnormality of skull bone morphology
Sucrase deficiency
Disaccharidase deficiency
Lens Diseases
Moderate drinker
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15
Squamous metaplasia of cervix
Microcephaly, Primary Autosomal Recessive, 6
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)
SCHAAF-YANG SYNDROME
Commissural lip pit
BRANCHIOOTIC SYNDROME 3 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 23
Arrhinia
HOLOPROSENCEPHALY 2 (disorder)
Missing nose
C1-C2 vertebral abnormality
Uncombable hair
Pili canaliculi
TRICHOHEPATOENTERIC SYNDROME 2
Immersion Related Epilepsy
Dicarboxylicaminoaciduria
Progressing stroke
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
EPISODIC ATAXIA, TYPE 6 (disorder)
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
Cystinuria type 1
Abnormality of red blood cells
Hypoglycorrhachia
CHOREOATHETOSIS/SPASTICITY, EPISODIC
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
Abnormality of cells of the erythroid lineage
Generalized hyperreflexia
Chronic acidosis
Familial renal glucosuria
Cystinuria, type 3
Cystinuria, Type A
Cystinuria, Type B
Cystinuria, Type A-B
Inherited aminoaciduria
Hyperlysinuria
Ornithinuria
Argininuria
Cysticercosis
gamma-Chain Disease
Adult Lymphoblastic Lymphoma
Heavy Chain Deposition Disease
Cramping sensation quality
Primary intraocular non-Hodgkin malignant lymphoma
Meningeal Lymphoma
BLOOD GROUP--FROESE
BLOOD GROUP--WALDNER TYPE
Ovalocytosis, Malaysian-Melanesian-Filipino Type
RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
Spherocytosis, Type 4
RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
ACANTHOCYTOSIS DUE TO BAND 3 HT
Isothenuria
Hyperactive bowel sounds
Glucagon-like Peptide-1 measurement
Arterionephrosclerosis
Iodide transport defect
Thyroid Dyshormonogenesis 1
panic symptoms
Neurocirculatory Asthenia
Other heart block
Orthostatic intolerance
Irritable heart
Orthostatic tachycardia
Uncomplicated alcohol withdrawal
Cocaine delirium
Warm autoimmune hemolytic anemia
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
paternal alcoholism
Childhood depression
Parkinsonism-Dystonia, Infantile
Alcohol dependence with withdrawal, unspecified
Undifferentiated attention deficit disorder
As If Personality
Avoidant Personality Disorder
Impulse-Ridden Personality
Inadequate Personality
Narcissistic Personality Disorder
Mannerism
Negativism in catatonia
Stress Disorders, Traumatic, Acute
Performance anxiety
Acute diverticulitis
Chronic Post-Traumatic Stress Disorder
acute stress
Feeling nervous
ritualistic behavior (symptom)
Poor hand-eye coordination
Underfolded superior helices
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
LICHTENSTEIN-KNORR SYNDROME
Hollow visceral neuropathy
CYSTIC FIBROSIS MODIFIER 1
MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO
Episodic Kinesigenic Dyskinesia 2
Bile Acid Malabsorption, Primary
Ethiopian cutaneous leishmaniasis
BURULI ULCER, SUSCEPTIBILITY TO
Pulmonary Mycobacterium avium complex infection
Abnormality of lung morphology
Potassium Deficiency
Stage IB Non-Small Cell Lung Carcinoma AJCC v7
Anemia, Hemolytic, Idiopathic Acquired
Idiopathic Autoimmune Hemolytic Anemia
Erythrocyte Lactate Transporter Defect
Hyperinsulinemic hypoglycemia, familial, 7
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
Low T3 Syndrome
Allan-Herndon-Dudley syndrome (AHDS)
Medullary nephrocalcinosis
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
FANCONI RENOTUBULAR SYNDROME 2
Cocaine-induced mood disorder
Inappropriate crying
Brain dopamine-serotonin vesicular transport disease
Knobloch syndrome
Primary familial brain calcification
L-2-HYDROXYGLUTARIC ACIDURIA
Chronic hallucinatory psychosis
Periostosis
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
Reduced muscle carnitine level
Decreased carnitine level in liver
peri-menopausal
WAARDENBURG SYNDROME, TYPE IID
Digitorenocerebral Syndrome
Abnormal hair pattern
Aplasia/Hypoplasia of the distal phalanges of the hand
Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome
COFFIN-SIRIS SYNDROME 4
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Hypoplastic fifth fingernail
Ependymoma of brain
Sarcoma of vulva
Sarcoma of ovary
Neoplasm of frontal lobe
Epithelioid Malignant Peripheral Nerve Sheath Tumor
Distal-Type Epithelioid Sarcoma
Proximal-Type Epithelioid Sarcoma
Childhood Central Nervous System Neoplasm
Teratoid Tumor, Atypical
RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder)
Childhood Atypical Teratoid/Rhabdoid Tumor
Malignant Rhabdoid Tumor, Somatic
MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
Bodily Pain
SCHWANNOMATOSIS 1, SOMATIC
COFFIN-SIRIS SYNDROME 5
Myelopathic Muscular Atrophy
Kocher-Debre-Semelaigne syndrome
Oculopharyngeal Spinal Muscular Atrophy
Progressive Proximal Myelopathic Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy
Atrophy of the spinal cord
B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
SPINAL MUSCULAR ATROPHY, TYPE IV
Spinal muscular atrophy 4
Winter Shortland Temple syndrome
Niemann-Pick Disease, Type E
Niemann-Pick Disease, Type F
Diffuse reticular or finely nodular infiltrations
Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
Foam cells with lamellar inclusion bodies
Long palm
Tic, Gestural
Tic, Transient
Tic, Vocal
Muscle Disease Manifestations
Neuromuscular Manifestations
MYASTHENIC SYNDROME, CONGENITAL, 18
Lameness, Animal
Parkinsonism or Parkinson's disease NOS
Idiopathic Parkinsonism or Parkinson's disease
Primary Parkinsonism or Parkinson's disease
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)
Diffuse Lewy Body Disease with Gaze Palsy
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
Atypical Parkinson Disease
Endometrial Serous Adenocarcinoma
HYPOTHYROIDISM, GOITROUS
Anti-thyroid antibodies disorder
Nager syndrome
Cerebrocostomandibular Syndrome
Acrofacial Dysostosis
Posterior rib gap
Anomalous rib insertion to vertebrae
Calcaneal epiphyseal stippling
Cerebrocostomandibular-Like Syndrome
HYPOTRICHOSIS 11
Increased serum serotonin
Mediastinal teratoma
Impaired ability to form peer relationships
Lack of spontaneous play
Inflexible adherence to routines or rituals
Impaired use of nonverbal behaviors
Long Qt Syndrome 12
Denial (Psychology)
Cholestasis-edema syndrome, Norwegian type
Degenerative myelopathy
Motor Neuron Disease, Secondary
Stiff limbs
Granuloma, Respiratory Tract
Radiation injury
Radiation Syndrome
Edema of foot (finding)
Radiation Sickness
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding)
SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR
ZTTK SYNDROME
Noonan Syndrome 4
NOONAN SYNDROME 9
Circling gait
Bronchial dysplasia
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Congenital hypertrichosis lanuginosa
Panhypopituitarism - X-linked
Congenital absence of parathyroid gland
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency
Mental Retardation, X-Linked, With Panhypopituitarism
Congenital maxillary hyperplasia
Exaggerated median tongue furrow
Aplasia/Hypoplasia of the nails
Hyperplasia of the maxilla
Thoracic kyphoscoliosis
Maxillary prognathia
LAMB-SHAFFER SYNDROME
Increased projection of maxilla
Hypertrophy of maxilla
Sertoli Cell Tumor
Kyphomelic dysplasia
Diffuse neurofibroma
Childhood Pilocytic Astrocytoma
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Anterior tibial bowing
ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
Shortening of all phalanges of fingers
Poorly ossified cervical vertebrae
Shortening of all phalanges of the toes
46,XY SEX REVERSAL 10
Absent brainstem auditory responses
Yemenite deaf-blind hypopigmentation syndrome
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
Hypoplasia of the semicircular canal
Peripheral amyelination
Aplasia of the semicircular canal
Dilated vestibule of the inner ear
Long-segment aganglionic megacolon
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
Abnormality of the nares
Abnormality of the columella
Respiratory insufficiency due to defective ciliary clearance
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
CILIARY DYSKINESIA, PRIMARY, 28
Degenerative Intervertebral Discs
OSTEOGENESIS IMPERFECTA, TYPE XVII
Microdysgenesis
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 4, autosomal dominant
Spastic Paraplegia Type 4
Paraplegia, Ataxic
Paraplegia, Cerebral
Paraplegia, Spinal
Paraplegia, Flaccid
Autosomal Recessive Hereditary Spastic Paraplegia
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
Primary Lateral Sclerosis, Adult, 1
Abnormal mitochondrial morphology
Slowed slurred speech
Spinocerebellar ataxia type 28
Polyp of sigmoid colon
Insulin-dependent but ketosis-resistant diabetes
mathematical ability
Tympanosclerosis
ELLIPTOCYTOSIS 2 (disorder)
SPHEROCYTOSIS, TYPE 3 (disorder)
Microspherocytosis
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
Anemia, Neonatal
ELLIPTOCYTOSIS 3
SPECTRIN SAINT CHAMOND PHENOTYPE
SPECTRIN TLEMCEN PHENOTYPE
SPECTRIN PROVIDENCE PHENOTYPE
SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Bone marrow hypercellularity
COLON CANCER, ADVANCED, SOMATIC
THROMBOCYTOPENIA 6
Deficiency of reductase
Bile acid synthesis defect, congenital, 2
Neonatal cholestatic liver disease
Other disorders of lipoid metabolism
Acardius
Keratoderma with scleroatrophy of the extremities
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy True Hermaphroditism, Sry-Related
TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY
SEX-REVERSING LOCUS ON X, FORMERLY
Annular Erythema
Lupus erythematosus, subacute
Lupus erythematosus overlap syndrome
Subacute cutaneous lupus
Maternal autoimmune disease
Abnormality of upper lip vermillion
Gastric Varix
Thyrotroph adenoma
Ichthyosis with hypotrichosis, autosomal recessive
Carotid artery aneurysm
IMMUNODEFICIENCY 31B
CANDIDIASIS, FAMILIAL, 7
Functional abnormality of the bladder
IMMUNODEFICIENCY 31A
Carotid artery dilatation
Acute respiratory distress
Peripartum cardiomyopathy
Localized candidiasis
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
Generalized abnormality of skin
Acute hematogenous osteomyelitis
Salmonella bacteraemia
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11
Laron syndrome type 2
Erythrokeratodermia with ataxia
Retinitis Pigmentosa 25
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
Macular flecks
Abnormal platelets
Weakness of the intrinsic hand muscles
Stormorken Syndrome
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Blood platelet disease
Intrinsic hand muscles weakness
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
Hyperekplexia and Epilepsy
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
Epileptic Encephalopathy, Early Infantile, 4
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
Multifocal seizures
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18
Stereotypical body rocking
Stereotypical hand wringing
Benign neoplasm of testis
Peutz-Jeghers polyps of small bowel
Intestinal hemorrhage NOS
Peutz Jehgers polyp
Neoplasm of uncertain or unknown behavior of testis
Paratubal Cyst
Colonic hamartomatous polyps
Precocious puberty with Sertoli cell tumor
Abnormal pigmentation of the oral mucosa
Non-squamous non-small cell lung cancer
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa
Functional abnormality of male internal genitalia
Osmotic diarrhea
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
Abnormal natural killer cell physiology
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14
Sulfocysteinuria
SULFITE OXIDASE DEFICIENCY, ISOLATED
Cardiac shunt
Hypoglycemia, leucine-induced
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)
Large prominent ears
Usher syndrome, type 1C
Autosomal dominant hyperinsulinism due to SUR1 deficiency
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT
Cold Hypersensitivity
Secondary malignant neoplasm of lymph nodes of neck
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Extraventricular neurocytoma
SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
Knee pain
CHRONIC CRYPTOSPORIDIOSIS
Central Sleep Apnea, Primary
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
TYLOSIS WITH ESOPHAGEAL CANCER
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA
Prominent protruding coccyx
Broad chin
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
Large tailbone
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
SPERMATOGENIC FAILURE 13
ALAZAMI-YUAN SYNDROME
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
Subglottic stenosis
Forney Robinson Pascoe syndrome
FRONTOMETAPHYSEAL DYSPLASIA 2
Transaldolase Deficiency
Abnormality of glutamine metabolism
Serositis
Maxillary Sinus Neoplasms
Herpetiform corneal ulceration
Velopharyngeal Insufficiency
Esophoria
Vertebral chordoma
Takao VCF Syndrome
Congenital cardiovascular disorder
Chromosome 22q11.2 Microduplication Syndrome
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
Unilateral primary pulmonary dysgenesis
Right aortic arch with mirror image branching
Velopharyngeal dysfunction
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
Recurrent infections in infancy and early childhood
Intermittent lactic acidemia
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
Dystrophy, granular
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
Congenital hypoparathyroidism
KENNY-CAFFEY SYNDROME, TYPE 1
Calvarial osteosclerosis
Patchy osteosclerosis
Thin long bone diaphyses
Stenosis of the medullary cavity of the long bones
Cortical thickening of long bone diaphyses
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
Kenny-Caffey syndrome, type 2
X-linked reduction of thyroxine-binding globulin
Thyroxine-Binding Globulin Deficiency
Inherited Thyroxine-Binding Globulin Deficiency
THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS
Adult onset sensorineural hearing impairment
Frontal release signs
Impaired pursuit initiation and maintenance
Cerebellar Purkinje layer atrophy
Wildervanck's syndrome
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 1
Posterior rib fusion
Spondylocostal Dysostosis 4, Autosomal Dominant
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 5
Autosomal dominant spondylocostal dysostosis
Hydranencephaly
Pelvic hypoplasia
Pelviscapular dysplasia
Facial hirsutism
Anterior rounding of vertebral bodies
Absent proximal finger flexion creases
Hypertrophied alveolar ridge
Alveolar ridge overgrowth
Mesomelic leg shortening
Excessive face hair
Abnormality of the joint spaces of the elbow
Abnormality of the skull base
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
Bleeding Disorder due to Defective Thromboxane A2 Receptor
Hyperostosis Cranialis Interna
Ghosal Hematodiaphyseal Dysplasia
GHOSAL HEMATODIAPHYSEAL SYNDROME
Enlargement of the inner surface of the skull bones
Thick inner surface of the skull bones
Overgrowth of the inside of the skull
Increased ossification of the internal surface of the cranial bones
Hypertrophy of the internal surface of the cranial bones
Drooping nasal tip
Small cerebral cortex
Broad fingertip
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3
Curvature of finger
Hymen, Imperforate
Short 4th toe
Axillary apocrine gland hypoplasia
Aplasia of the ulna
Short 5th toe
Deformed radius
Hepatic Adenomas, Familial
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
Hyperinsulinism due to HNF1A deficiency
Congenital anomaly of bile ducts
Congenital atresia of vas deferens
bilateral agenesis
Bilateral Multicystic Dysplastic Kidneys
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
Decreased numbers of glomeruli
Decreased numbers of nephrons
AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT
Autoantibody measurement
New Onset Diabetes After Transplant
Hernia of abdominal cavity
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CRANIOSYNOSTOSIS 3
Manic episode
Bone marrow megaloblastic (finding)
Transcobalamin II deficiency
TRANSCOLABAMIN II DEFICIENCY
Franceschetti-Klein syndrome
Sparse lower eyelashes
Jaccoud's syndrome
Chronic thyroiditis
Hyperplasia of tonsils
Streptococcal tonsillitis
Infective dermatitis
Acute Adult T-Cell Leukemia/Lymphoma
Type A Lymphomatoid Papulosis
Familial hypertryptophanemia
Deafness, Autosomal Recessive 21
Disseminated Fusariosis
Placenta Accreta
Blue rubber bleb nevus syndrome
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
GLAUCOMA 3, PRIMARY CONGENITAL, E
Constitutional aplastic anemia
Atypical Adenomatous Lung Hyperplasia
TELOMERE LENGTH, MEAN LEUKOCYTE
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
Endometrial Clear Cell Adenocarcinoma
Conjunctival intraepithelial neoplasia
Basaloid carcinoma
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
COLLAGENOSIS, FAMILIAL REACTIVE PERFORATING
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
Dyskeratosis Congenita, Autosomal Recessive
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)
Malrotation of colon
Postauricular fistula
Small forehead
Supraauricular pit
Branchial anomaly
Fusion of middle ear ossicles
SCALP-EAR-NIPPLE SYNDROME
Ectopic thymus tissue
Duplication of internal organs
Hypotrophic forehead
Hypoplasia of forehead
CHAR SYNDROME
Distal/middle symphalangism of 5th finger
Fusion of the terminal and middle phalanges of the 5th finger
PATENT DUCTUS ARTERIOSUS 2
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4
Fused Kidney
Liver Epithelioid Hemangioendothelioma
Perivascular epithelioid tumor, malignant
HERMANSKY-PUDLAK SYNDROME 2
Deafness, Autosomal Recessive 10
Gastrointestinal tract adenoma
Rhonchopathy
Acquired Protein S Deficiency
TEMPLE SYNDROME
Arenaviridae Infections
African Hemochromatosis
Non-transfusion dependent thalassaemia
IMMUNODEFICIENCY 46
Thyroid Dyshormonogenesis 3
Thyroid Angiosarcoma
Increased T3/T4 ratio
Thyroglobulin Deficiency
Estrogen receptor positive tumor
Epithelioid Cell Melanoma
Posterior Leukoencephalopathy Syndrome
High grade surface osteosarcoma
Acute mucositis
Ribbing disease
Cranial sclerosis
Peritoneal Sclerosis
Liver Disease Associated with Cystic Fibrosis
Posterior reversible encephalopathy syndrome
Craniofacial osteosclerosis
Infantile scurvy
Aneurysm of aortic root
LOEYS-DIETZ SYNDROME 4
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)
Left-Right Axis Malformations
Hereditary corneal dystrophy
Stromal Dystrophies, Corneal
Corneal deposit
Epithelial basement membrane dystrophy
Salzmann nodular dystrophy
Corneal dystrophy, epithelial basement membrane
Groenouw corneal dystrophy type I (disorder)
Corneal Dystrophy, Lattice Type IIIA
Amyloid of cornea
Nodular corneal dystrophy
Punctate corneal dystrophy
Uterine Rupture
SMITH DISEASE
LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)
Loeys-Dietz Syndrome Type 1
Furlong syndrome
Loeys-Dietz Syndrome Type 2
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
Inguinal Hernia, Direct
Inguinal Hernia, Indirect
Pulmonary artery aneurysm
Generalized arterial tortuosity
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
Aortic aneurysm, familial thoracic 3
LOEYS-DIETZ SYNDROME, TYPE 1B
AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO
ESCC, SUSCEPTIBILITY TO
GASTRIC CARDIA ADENOCARCINOMA, SUSCEPTIBILITY TO
Pleomorphic hyalinizing angiectatic tumor of soft tissue
Hemosiderotic Fibrolipomatous Tumor
HOLOPROSENCEPHALY 4 (disorder)
Keratinization of ocular surface
Autosomal recessive ichthyosis
Acral self-healing collodion baby
Bathing suit ichthyosis
Uncombable hair syndrome
Generalized trichodysplasia
UNCOMBABLE HAIR SYNDROME 2
Freezing of gait
Hydrocephalus Ex-Vacuo
Aprosencephaly
Post-Traumatic Hydrocephalus
Cerebral ventriculomegaly
Fetal Cerebral Ventriculomegaly
Acute promyelocytic leukaemia differentiation syndrome
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
Thrombophilia due to Thrombomodulin Defect
Corneal allograft rejection
Thrombotic thrombocytopenic purpura, acquired
Cervix carcinoma recurrent
UNCOMBABLE HAIR SYNDROME 3
Osteomyelofibrosis
Hereditary thrombocytopenic disorder
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
Increased serum free triiodothyronine
Mouse Kidney Carcinoma
Gastric T-Cell Non-Hodgkin Lymphoma
Welander distal myopathy, Swedish type
Rheumatic Chorea
Chorea, Senile
Thyroid Dyshormonogenesis 5
Chronic progressive chorea
Hereditary Chorea
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis And Congenital Hypothyroidism
Pituicytoma
Loss of ability to walk in early childhood
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
Mitochondrial DNA Depletion Syndrome, Myopathic Form
Depletion of mitochondrial DNA in muscle tissue
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
Abnormality of the basal ganglia
Thiamine responsive megaloblastic anemia syndrome
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
Atrial Septal Defect 6
Neoplasm of cerebrum
Neurosyphilis
Gram positive sepsis
Extreme exhaustion
Leprosy reversal reaction
Recurrent cystitis
LEPROSY, SUSCEPTIBILITY TO, 5
Meningitis, Listeria
Sexually Transmitted Diseases, Bacterial
Septic Toxemia
Streptococcal sepsis
Simple diverticular disease of large intestine
Prosthetic joint infection
LEPROSY, SUSCEPTIBILITY TO, 3
Rheumatic fever in children
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
Bordetella Infections
Tracheobronchitis
Prostate infection
Chronic urinary tract infection
Acne Conglobata
Necrosis of pancreas
Pancreas infection
Graft ischaemia
Autoimmune myocarditis
Intraocular Infection
Macular Degeneration, Age-Related, 10
Chronic pneumonia
LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
Branchial Clefts-Congenital disorder
Other branchial cleft malformations
Cervical auricle (disorder)
Vaginal intraepithelial neoplasia grade 2
Bovine Anaplasmosis
disc disorder
Diverticulum
Myosarcoma
Oral Manifestations
Tenosynovitis
Streptococcal meningitis
Nontoxic goiter
Baller-Gerold syndrome
Non-toxic multinodular goiter
recurrent Wilms' tumor and other childhood kidney tumors
Corneal graft rejection
Cytomegaloviral colitis
Ischemic myocardial dysfunction
Mucocutaneous ulcer
heart inflammation
pancreatitis biliary
Segmental Ileitis
TNF RECEPTOR BINDING, ALTERED
Secondary Hemophagocytic Lymphohistiocytosis
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
Hepatic amyloidosis
Familial non-neuropathic amyloidosis
Hereditary amyloid nephropathy
Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Familial Hypertrophic, 13
Congenital finger flexion contractures
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARDIOMYOPATHY, DILATED, 2A (disorder)
Cardiomyopathy, Dilated, 1FF
NEMALINE MYOPATHY 5
Cardiac troponin T measurement
CARDIOMYOPATHY, DILATED, 1D (disorder)
Progressive Familial Heart Block, Type II
Cardiomyopathy, Familial Hypertrophic, 2
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
Ehlers-Danlos syndrome caused by tenascin-X deficiency
VESICOURETERAL REFLUX 8
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1
Dominantly inherited sensory neuropathy
Dystrophy of vulva
Foot Diseases
Encephalitozoonosis
Secondary carcinoma
Cancer of Lip
Porokeratosis
Cystadenocarcinoma, Papillary
Intraductal papilloma of breast
Gallbladder adenoma
Polyp of larynx
Vaginal clear cell adenocarcinoma
Increased serum androstenedione
Chromosome 20, trisomy
Erythroplakia of mouth
Chronic idiopathic thrombocytopenic purpura
Verruca plana
Stage IIIB Breast Carcinoma
Fibroblastic osteosarcoma
Squamous cell carcinoma of the hypopharynx stage IV
Squamous cell carcinoma, microinvasive
Mucinous cystic tumor of borderline malignancy
Reactive gastritis
Parotid Gland Carcinoma
Solitary keratoacanthoma
Pilar tumor
Malignant neoplasm of cerebrum
Benign neoplasm of large intestine
pituitary giant
VEINS/LYMPHATICS
Carcinoma of glottis
cyst benign
Malignant tumour of parotid gland
Central Nervous System Neoplasms, Primary
Recurrent Hepatocellular Carcinoma
Adenocarcinoma of the prostate metastatic
Stage I Gallbladder Carcinoma
Trichilemmocarcinoma
Fetal adenocarcinoma
Clear cell chondrosarcoma
Gliofibroma
Increased estradiol level
Congenital naevus
Colon Carcinoma Metastatic in the Liver
Barretts esophagus with dysplasia
Endometrial Squamous Cell Carcinoma
Hepatitis C Virus-Related Hepatocellular Carcinoma
Multifocal osteosarcoma
Nodular Neoplasm
Occupational Malignant Neoplasm
Ovarian mucinous tumor
Carcinoma ex pleomorphic adenoma of parotid gland
Stage IIIB Cervical Carcinoma
Prostate cancer stage C
Disseminated carcinoma
choroid plexus carcinoma, childhood
Malignant Conversion
Bowenoid papulosis of penis
Adult Gliosarcoma
Colorectal Small Cell Neuroendocrine Carcinoma
Fetal Lung Adenocarcinoma
LI-FRAUMENI SYNDROME 1
Li-Fraumeni Syndrome 2
Adrenocortical Carcinoma, Pediatric
Hypodiploid B Acute Lymphoblastic Leukemia
Dedifferentiated Solitary Fibrous Tumor
Chemical Gastritis
Desmoplastic cerebral astrocytoma of infancy
Chromosome 17 deletion
Stage IV Hypopharyngeal Carcinoma AJCC v7
Multicentric Breast Carcinoma
Chondrosarcoma of bone
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
Chromosome 17p Deletion Syndrome
Noninvasive carcinoma ex pleomorphic adenoma
Neural tube--Abnormalities
Childhood Gliosarcoma
Abnormality of genital physiology
Abnormality of reproductive system physiology
Lesion of fallopian tube
Papilloma of breast
Elevated serum 11-deoxycortisol
Abnormal serum dehydroepiandrosterone level
ATAXIA-OCULOMOTOR APRAXIA 3
Undifferentiated somatoform disorder
Oppenheim's Disease
Triose phosphate isomerase deficiency
Foley-Denny-Brown Syndrome
Triosephosphate Isomerase Deficiency
TRIOSEPHOSPHATE ISOMERASE MANCHESTER
Hypertrophic cardiomyopathy without obstruction
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)
Cardiomyopathy, Dilated, 1y
LEFT VENTRICULAR NONCOMPACTION 9
Nemaline myopathy 4
Cap Myopathy, Tpm2-Related
CAP MYOPATHY 2
Ileocolic intussusception
Masticatory Muscles, Hypertrophy of
Nemaline myopathy 1
CAP MYOPATHY, TPM3-RELATED (disorder)
CAP MYOPATHY 1
Thiopurine S methyltranferase deficiency
Gastrointestinal irritation
6 alpha mercaptopurine sensitivity
Myxedema
Transient hypothyroidism
Toxic diffuse goiter
Thyroid cold nodule
Deficiency of iodide peroxidase (disorder)
Thyroid defect in oxidation and organification of iodide
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder)
Spastic paraplegia type 5A, recessive
Hypothalamic hypothyroidism
Narcosis
Psychoactive substance-induced withdrawal syndrome
Coma, Post-Head Injury
Coma, Post-Traumatic, Prolonged
THYROTROPIN-RELEASING HORMONE DEFICIENCY
Thyrotropin-Releasing Hormone Resistance, Generalized
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Compensated cirrhosis
Chronic hepatitis C virus genotype 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
SPINOCEREBELLAR ATAXIA 41
Focal cortical dysplasia
Nephrotoxic serum nephritis
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
Adult Subependymoma
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal Syndrome, Type III
Coxa Magna
Cone-shaped epiphyses of the middle phalanges of the hand
Swelling of proximal interphalangeal joints
Long upper lip
Ivory epiphyses of the distal phalanges of the hand
Chin with horizontal crease
Cone-shaped epiphyses of the proximal phalanges of the hand
lymphangiosarcoma
Pulmonary lymphangiomyomatosis
Subungual fibroma
Hepatic Angiomyolipoma
HIP DYSPLASIA, BEUKES TYPE
Achromatic retinal patches
Giant cell astrocytoma
Retinal hamartoma
Subependymal nodules
Cortical tubers
Projection of scalp hair onto lateral cheek
Tsc2 Angiomyolipomas, Renal, Modifier Of
Thyrotropin deficiency, isolated
Neonatal thyrotoxicosis
Orbital congestion
Silent thyroiditis
Diffuse goiter
Toxic nodular goiter
Autonomous thyroid function
Thyrotoxicosis in pregnancy
Chronic idiopathic urticaria
Toxic goiter
Thyroid Hurthle Cell Carcinoma
Neonatal hyperthyroidism
Thyroid hyperplasia
Congenital hyperthyroidism
Hyperthyroidism, Nonautoimmune
Autistic features
Hyperthyroidism, Familial Gestational
Thyroid Adenoma, Hyperfunctioning
Activating thyroid-stimulating hormone receptor defect
Sudden Infant Death with Dysgenesis of the Testes Syndrome
Partial development of the penile shaft
Dysplastic testes
Staccato cry
LEFT VENTRICULAR NONCOMPACTION 2
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
Cardiomyopathy, Dilated, 1g
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
Myopathy, Early-Onset, with Fatal Cardiomyopathy
Paracousis
Distorted hearing
Dysacusis
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
RETINAL DYSTROPHY AND OBESITY
Trigger Finger Disorder
Hyperemesis
Early satiety
Familial amyloid polyneuropathy, type VI
Familial Amyloid Polyneuropathy, Jewish Type
Amyloid Polyneuropathy, Swiss Type
Age-related amyloidosis
Amyloid of vitreous
Amyloid myopathy
Senile systemic amyloidosis
Abnormal test result
Familial Amyloid Polyneuropathy, Appalachian Type
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Immunoglobulin deposition disease
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED
CARPAL TUNNEL SYNDROME, FAMILIAL
Amyloid deposition in the vitreous humor
Transthyretin related familial amyloid cardiomyopathy
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH FRONTOTEMPORAL DEMENTIA
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
Combined Oxidative Phosphorylation Deficiency 4
Central topographic island
Retinitis Pigmentosa 14
LEBER CONGENITAL AMAUROSIS 15
Slow pupillary light response
Saethre-Chotzen Syndrome with Eyelid Anomalies
BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY
Robinow Sorauf syndrome
IMMUNODEFICIENCY 16
Childhood Acute Monocytic Leukemia
Adult Acute Monocytic Leukemia
Diabetic embryopathy
Tyrosine Kinase 2 Deficiency
stage, rectal cancer
Iris Diseases
Abnormal retinal morphology
Yellow mutant oculocutaneous albinism
stage II melanoma
Congenital hypopigmentation
Autoimmune endocrine disease
Secondary malignant neoplasm of spleen
Iris transillumination defect
Absent skin pigmentation
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
Oculocutaneous albinism type 3
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
Caudate atrophy
Abnormality of adipose tissue
Skin-Hair-Eye Pigmentation, Variation In, 11
HERMANSKY-PUDLAK SYNDROME 6
Cleft of hard palate
Nasal, dysarthic speech
Cleft Palate, Isolated, And Mental Retardation
Arthrogryposis multiplex congenita, distal, X-linked
Regional abnormality of skin
Chromosome 15q, trisomy
Duplication 15q11-q13 Syndrome
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
Type 2 diabetes mellitus in obese
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder)
Hyperinsulinism due to uncoupling protein 2 deficiency
OBESITY, SEVERE, AND TYPE II DIABETES
Physiological hyperbilirubinemia (disorder)
Cat allergy (disorder)
Opiate withdrawal symptoms
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
Multiple glomerular cysts
Hereditary orotic aciduria
OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA
Orotic acid crystalluria
Orotidine-5-prime-phosphate decarboxylase defect
Pyrimidine-responsive megaloblastic anemia
Folate-unresponsive megaloblastic anemia
Reduced orotidine 5-prime phosphate decarboxylase activity
Keratosis palmoplantaris papulosa
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
Facial Hypertrichosis
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME
Hyperpigmentation in sun-exposed areas
RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 61
Crossed fused renal ectopia
Anoperineal fistula
Thick eyelashes
KABUKI SYNDROME 2
Prominent eyelashes
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
malignant neoplasm of bone marrow
Cardiomyopathy, Dilated, 1w
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
Inclusion Body Myopathy, Autosomal Recessive
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
Increased spinal bone density
Frontal cortical atrophy
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
Sclerosis of spinal bone
Eburnation of spinal bone
Concrete spinal bone
Compact spinal bone
Single-Gene Defects
Achromia of skin
Hepatic osteodystrophy
Dietary calcium deficiency
[X]Spinal osteochondrosis, unspecified
Infection induced
Spinal Degenerative Disorder
Cervical spondylosis
Diabetic dyslipidaemia
Arterial insufficiency
Menstruation, Retrograde
Tuberculoma
Intracranial Tuberculoma
Rubeosis iridis
Kasabach-Merritt syndrome
Ischemic peripheral neuropathy
Chronic ulcer of lower extremity
Abnormal yolk sac
Irvine-Gass Syndrome
Sarcoid type granuloma
Comedocarcinoma, noninfiltrating
Sclerosing stromal tumor
Critical lower limb ischemia
Clinically significant macular edema
Moderate chronic obstructive pulmonary disease
Refractory angina
angina symptom
Peritoneal lesion
Xanthogranulomatous cholecystitis
Polypoidal choroidal vasculopathy
Retinal fibrosis
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO
NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO (finding)
END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO (finding)
PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO (finding)
NONPROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO (finding)
NEUROPATHY, DIABETIC, SUSCEPTIBILITY TO
Metastatic Ductal Breast Carcinoma
Chemotherapy-induced peripheral neuropathy
Wet age-related macular degeneration
MICROVASCULAR COMPLICATIONS OF DIABETES, PROTECTION AGAINST
LYMPHEDEMA, HEREDITARY, ID
Erythrocytosis due to tissue hypoxemia
Polycythemia due to excess erythopoetin production
Stress polycythemia
Capillary hemangioma of retina
Polycythemia due to fall in plasma volume
Polycythemia due to high altitude
Central Nervous System Hemangioblastoma
Retinal hemangioblastoma
ERYTHROCYTOSIS, FAMILIAL, 2
HEREDITARY RENAL CANCER ASSOCIATED 1
VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF
NONPAPILLARY RENAL CARCINOMA 1 LOCUS
Polycythemia due to erythropoietin
Polycythemia due to stress
RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
Spinal hemangioblastoma
Renal Angiomyoadenomatous Tumor
Cervical Glandular Intraepithelial Neoplasia
Enterobacteriaceae Infections
Ameloblastic fibroma
Cataract, Nuclear Diffuse Nonprogressive
CATARACT 30
Diffuse nuclear cataract
Watery diarrhoea
Malignant Vipoma
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION 1
Cystoid macular retinal degeneration
VITREORETINOCHOROIDOPATHY (disorder)
Retinal arteriolar constriction
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)
BESTROPHINOPATHY
RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
Autosomal dominant vitreoretinochoroidopathy
MACULAR DYSTROPHY, VITELLIFORM, 5
Retinal arteriolar occlusion
Abnormality of chorioretinal pigmentation
Sneezing
Orofacial Pain
Tissue Pain
Prurigo nodularis
Excruciating pain
Gastrointestinal sensation
Localized pain
Taste salty
Allergy to chemicals
Hypoplasia of the ventral pons
Neuronal loss in basal ganglia
Osteoprotegerin test
Thrombocytopenia due to sequestration
von Willebrand disease, type IIC
von Willebrand disease, type IID
Partial stenosis
Congenital von Willebrand's disease
Factor VIII measurement
Reduced von Willebrand factor activity
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX
Thrombocytopenia, X-Linked, Intermittent
WISKOTT-ALDRICH SYNDROME, ATTENUATED
Abnormality of eosinophils
Ototoxicity
Other specified diabetes mellitus with unspecified complications
DEAFNESS, AUTOSOMAL DOMINANT 6
Limited mobility of proximal interphalangeal joint
Cataract, Nuclear Total
Wolfram-Like Syndrome, Autosomal Dominant
CATARACT 41
Low-frequency sensorineural hearing impairment
DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH
Abnormality of the mesentery
Abnormality of the upper urinary tract
Abnormality of mesentery morphology
Wolfram-like syndrome
Juvenile osteoporosis
FRACTURE, HIP, SUSCEPTIBILITY TO (finding)
OSTEOGENESIS IMPERFECTA, TYPE XIV
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16
OSTEOGENESIS IMPERFECTA, TYPE XV
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS
Congenital absence of adrenal gland
Abnormality of the diaphragm
Peripheral pulmonary vessel aplasia
Hypoplasia of the fallopian tube
Tetra-amelia autosomal recessive
Tetraamelia multiple malformations
Aplasia/Hypoplasia of the nipples
TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE
Aplasia/Hypoplasia involving the pelvis
Pilonidal Cyst
Other specified congenital malformations of limb(s)
Absent finger
Carpal bone aplasia
Al Awadi syndrome
Aplastic pubic bones
Aplasia/Hypoplasia of the phalanges of the hand
Aplasia/Hypoplasia of the tarsal bones
Aplasia/Hypoplasia of the pubic bone
Fuhrmann syndrome
Aplasia/Hypoplasia of metatarsal bones
Aplasia/Hypoplasia of the phalanges of the toes
Aplasia/Hypoplasia involving the carpal bones
Aplasia/Hypoplasia of the 5th finger
Absent wrist bone
Foot oligodactyly
Central corneal thickness
SPLIT-HAND/FOOT MALFORMATION 6 (disorder)
TOOTH AGENESIS, SELECTIVE, 8
Aplasia/Hypoplasia of the testes
Leukemia, Eosinophilic, Acute
Hydrometrocolpos
Childhood Kidney Neoplasm
Skull Base Meningioma
Ovarian gonadoblastoma
MEACHAM SYNDROME (disorder)
Gonadal tissue inappropriate for external genitalia or chromosomal sex
NEPHROTIC SYNDROME, TYPE 4
Cystic lung lesion
Xy female gonadal dysgenesis
Gonadal dysgenesis with female appearance, male
X INACTIVATION, FAMILIAL SKEWED, 1 (disorder)
McLeod phenotype
MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE
Spindle Cell Melanoma
ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO
Early radiation dermatitis
upper GI cancer
Hepatitis Virus-Related Hepatocellular Carcinoma
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
Absent scaphoid
FANCONI ANEMIA, COMPLEMENTATION GROUP U
Carcinoma of supraglottis
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
GABRIELE-DE VRIES SYNDROME
neurobehavioral problems
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56
Recurrent candida infections
T cell immunodeficiency primary
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
Congenital absence of part of brain
Congenital hypoplasia of part of brain
Other reduction deformities of brain
Microgyria
CRANIOSYNOSTOSIS 6
HOLOPROSENCEPHALY 5
Multiple ventricular septal defects
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
Posteriorly placed anus
Iridescent posterior subcapsular cataract
Tooth Agenesis, Selective, 5
Variola major
PRECOCIOUS PUBERTY, CENTRAL, 2
POLYDACTYLY, POSTAXIAL, TYPE A6
Broad phalanges of the 5th finger
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Widely spaced primary teeth
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
ZINC IN BREAST MILK, REDUCED
Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc
Abnormal zinc metabolism
Abnormality of zinc homeostasis
OOCYTE MATURATION DEFECT 1
OOCYTE MATURATION DEFECT 3
BARTTER SYNDROME, TYPE 4A
Global glomerulosclerosis
Sensorineural Deafness With Mild Renal Dysfunction
Reduced renal corticomedullary differentiation
ANTERIOR SEGMENT DYSGENESIS 7
Hyperostosis Frontalis Interna
Thick inner surface of the frontal bone
Enlargement of the inner surface of the frontal bone
Increased ossification of the internal surface of the frontal bone
Hypertrophy of the internal surface of the frontal bone
Lissencephaly 3
Malignant Placental Neoplasm
Congenital thyroid hypoplasia
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
Secondary Focal Segmental Glomerulosclerosis
MYELOKATHEXIS, ISOLATED
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
MACULAR DYSTROPHY, PATTERNED, 3
CHROMOSOME 16p13.2 DELETION SYNDROME
Autoamputation of foot
Foot osteomyelitis
Comitant heterophoria
Neurological morbidity
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor
Sickle Cell-SS Disease
Lafora Body Disease, Late Onset
EPILEPSY, PROGRESSIVE MYOCLONIC 2B
Visual auras
Simple partial occipital seizures
Seizures, intractable
Salivary gland infection
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
Invasive micropapillary carcinoma of breast
Non-venereal endemic syphilis
Pituitary Hormone Deficiency, Combined, 3
Hypothalamic luteinizing hormone-releasing hormone deficiency
Light chain myeloma
MEGALOBLASTIC ANEMIA 1, FINNISH TYPE
Metastatic basal cell carcinoma
Noonan syndrome-like disorder with loose anagen hair
Loose anagen hair
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
Impaired myocardial contractility
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Desmoplastic fibroblastoma
Pulmonary Alveolar Microlithiasis
Autosomal dominant hypophosphatemic rickets
Acquired hypophosphatemia
RAINE SYNDROME
AORTIC ANEURYSM, FAMILIAL THORACIC 9
Intraocular Medulloepithelioma
Anisocoria
Distal motor neuropathy
Motor axonal neuropathy
Length dependent motor neuropathy
Adrenocorticotropin receptor defect
Hamartoma of lung
Benign Mesenchymoma
Birth length
endometrial polyp benign
Myolipoma
Aggressive angiomyxoma
Cardiac Lipoma
Vaginal Leiomyoma
12q14 microdeletion syndrome
Upper eyelid coloboma
FRONTONASAL DYSPLASIA 3
Dysphagia, progressive
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48
Epilepsy, Partial, with Variable Foci
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
Diffuse axonal swelling
Abnormal hand morphology
Bile duct adenocarcinoma
BALT lymphoma
Follicular mycosis fungoides
CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3
PERRAULT SYNDROME 2
PERRAULT SYNDROME 3
PERRAULT SYNDROME 4
Transverse vaginal septum
BARDET-BIEDL SYNDROME 6
Acquired deformity of finger
DEVELOPMENTAL DYSPLASIA OF THE HIP 1
Angel shaped phalangoepiphyseal dysplasia
MULTIPLE SYNOSTOSES SYNDROME 2
Proximal/middle symphalangism of 5th finger
Malaligned carpal bone
Deformed tarsal bones
Abnormally shaped carpal bones
Very short digits
Valgus hand deformity
BRACHYDACTYLY, TYPE A1, C
Ulnar deviation of the 3rd finger
SYMPHALANGISM, PROXIMAL, 1B
Finger symphalangism
Triangular shaped proximal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 2nd finger
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Short 3rd finger
Pseudoepiphyses of the 3rd finger
Triangular epiphysis of the proximal phalanx of the 3rd finger
Enlarged epiphysis of the proximal phalanx of the 3rd finger
Triangular epiphysis of the middle phalanx of the 3rd finger
Hypersegmentation of proximal phalanx of third finger
Short digit
Triangular epiphysis of the middle phalanx of the 2nd finger
Enlarged epiphysis of the middle phalanx of the 2nd finger
Triangular shaped proximal phalanx of the 3rd finger
Triangular shaped middle phalanx of the 3rd finger
Enlarged epiphysis of the middle phalanx of the 3rd finger
Hypersegmentation of proximal phalanx of second finger
Cuboidal metacarpal
Metacarpophalangeal synostosis
NOONAN SYNDROME 10
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Wrinkled face
Abnormal palmar dermatoglyphics
Ciliary body coloboma
Galloway Mowat syndrome
GALLOWAY-MOWAT SYNDROME 2, X-LINKED
Presentey Anomaly
Complex atypical endometrial hyperplasia
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
Muscle twitch
Muscle fibrillation
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET
Decreased/absent ankle reflexes
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)
Miyoshi Muscular Dystrophy 3
Congenital muscular dystrophy Paradas type
Hypolipidemia
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
Caudal Duplication Anomaly
Oligodontia-Colorectal Cancer Syndrome
Malignant blue nevus of skin
MEIER-GORLIN SYNDROME 7
EXUDATIVE VITREORETINOPATHY, DIGENIC
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
Chronic mucus hypersecretion
Thrombasthenia-Thrombocytopenia, Hereditary
Platelet alpha-Granule Deficiency
Reduced prothrombin consumption
Absence of alpha granules
LYMPHOMA, SOMATIC
Swallowing problem
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
Karak Syndrome
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
Iron accumulation in brain
Cataract, Autosomal Dominant, Multiple Types 1
CATARACT 12, MULTIPLE TYPES
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
OBESITY, MILD, EARLY-ONSET
GLAUCOMA 1, OPEN ANGLE, B
Rhizomelic chondrodysplasia punctata, type 2
Stippled calcification proximal humeral epiphyses
Gastric Antral Vascular Ectasia
Amyopathic dermatomyositis
Watermelon stomach disease
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
PSEUDOHYPOALDOSTERONISM, TYPE IIE
alopecia congenita
Immunodeficiency associated with other specified major defects
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Congenital alopecia X-linked
Reduced circulating T-helper cells
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder)
MENTAL RETARDATION, X-LINKED 106
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
JOUBERT SYNDROME 10 (disorder)
Orofaciodigital syndrome type1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
Peroxisome Biogenesis Disorder, Complementation Group 12
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 10B
LETHAL CONGENITAL CONTRACTURE SYNDROME 7
Congenital absence of breast
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)
Immunodeficiency without anhidrotic ectodermal dysplasia
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)
Incontinentia pigmenti, familial male-lethal type
Atrophic, patchy alopecia
INCONTINENTIA PIGMENTI, ATYPICAL
Blood urea increased
Recurrent infections due to aspiration
Decreased sensitivity to hypoxemia
NEPHROTIC SYNDROME, TYPE 7
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7
Familial Atypical Hemolytic Uremic Syndrome
Vitamin K Assay
response to vitamin
Rhizomelic chondrodysplasia punctata, type 3
Arteriolar nephrosclerosis
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
Pancreatic Intraepithelial Neoplasia-1B
Congenital pigmentation
Aberrant melanosome maturation
Recurrent abscess formation
DEAFNESS, AUTOSOMAL RECESSIVE 105
CARDIOMYOPATHY, DILATED, 1N
Muscular Dystrophy, Limb-Girdle, Type 2G
Proximal upper limb amyotrophy
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25
AL KAISSI SYNDROME
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS
Chronic rhinitis due to narrow nasal airway
Hypomyelination, Global Cerebral
Interleukin 17 Measurement
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
Hypothyroidism in pregnancy
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
Degeneration of the striatum
Symmetric lesions of the basal ganglia
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
Sweat Gland Neoplasms
Vaginal dryness
Endocrine Breast Diseases
OROFACIAL CLEFT 8
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
Small, conical teeth
Progressive alopecia
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
Decreased number of sweat glands
Small, pointed teeth
Small, peg shaped teeth
Spontaneous Preterm Birth
Familial mitral valve prolapse
Van Maldergem Wetzburger Verloes syndrome
Heterotopia, Periventricular, Autosomal Recessive
MITRAL VALVE PROLAPSE, MYXOMATOUS 2
Cholestasis, benign recurrent intrahepatic 2
Sertoli cell-only syndrome, Y-linked
Chronic prostatitis
Hyperprolinemia type 2
Bicarbonate-wasting renal tubular acidosis
Increased red cell osmotic resistance
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hemophagocytic lymphohistiocytosis, familial, 4
Metastatic Carcinoma in the Liver
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
Interleukin 1 Receptor Antagonist Measurement
Blood group p phenotype (finding)
Orthokeratotic hyperkeratosis
Palmoplantar keratoderma Nagashima type
Peripheral neuroepithelioma of bone
Hemorrhagic Fever, American
CEROID LIPOFUSCINOSIS, NEURONAL, 13
Prognathism
MICROPHTHALMIA, SYNDROMIC 8
COHEN-GIBSON SYNDROME
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
Neutrophil extracellular trap formation
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
Membranous Lupus Nephritis
Laryngeal cancer recurrent
Squamous cell breast carcinoma
CONE-ROD DYSTROPHY 9
DEAFNESS, AUTOSOMAL DOMINANT 66
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
Prolonged Electroretinal Response Suppression
Fragile teeth
Osteopetrosis, Autosomal Recessive 7
PAGET DISEASE OF BONE 2, EARLY-ONSET
PEROXISOME BIOGENESIS DISORDER 14B
Renal Aminoacidurias
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
Intermittent hyperpnea at rest
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
Succinate-Coa Ligase Deficiency
Pontocerebellar atrophy
Abnormality of the forearm
Growth Hormone Deficiency With Pituitary Anomalies
Hypopituitarism and septooptic 'dysplasia'
SEPTOOPTIC DYSPLASIA, MILD
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 20 WITHOUT ANOSMIA
METACARPAL 4-5 FUSION
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
Mental Retardation, Autosomal Dominant 5
Decreased cervical spine mobility
Enlarged metacarpophalangeal joints
Enlarged interphalangeal joints
Oesophageal carcinoma recurrent
Bull's eye macular dystrophy
CONE-ROD DYSTROPHY 12 (disorder)
RETINITIS PIGMENTOSA 41 (disorder)
Granular macular appearance
Perifoveal ring of hyperautofluorescence
Hepatocellular carcinoma stage I
Newborn physiological jaundice
Icterus Gravis Neonatorum
Hepatocellular carcinoma stage III
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3
Hypersomnia, Recurrent
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
PARKINSON DISEASE 20, EARLY-ONSET
Staring gaze
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
Hyporeflexia of upper limbs
EMG positive sharp waves
Limited shoulder movement
Limited wrist extension
AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1
Hip flexor weakness
EMG: myotonic discharges
Tibialis muscle weakness
PAGET DISEASE OF BONE 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
NEPHROTIC SYNDROME 14
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
Other specified schistosomiasis
Irregular myelin loops
SCHIZOPHRENIA 19
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
Fried syndrome
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
HYPERALDOSTERONISM, FAMILIAL, TYPE IV
Loss of Purkinje cells in the cerebellar vermis
SPINOCEREBELLAR ATAXIA 42
MALE GERM CELL TUMOR, SOMATIC
IMMUNODEFICIENCY 37
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
Central heterochromia
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
hypoventilation syndrome
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2
Hirschsprung disease ganglioneuroblastoma
Central sleep apnea syndrome
Corneal epithelial loss
Neonatal Torulopsis glabrata Fungemia
Benzodiazepine abuse
Hydroxykynureninuria
Nonprogressive encephalopathy
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 10
MYOPIA 25, AUTOSOMAL DOMINANT
Decreased palmar creases
Bone Fragility with Contractures, Arterial Rupture, and Deafness
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
Distal upper limb muscle weakness
EPISODIC PAIN SYNDROME, FAMILIAL, 1
Halitosis
MYOCLONUS, FAMILIAL CORTICAL
Peliosis Hepatis
Neoplasm of cardiovascular system
Acute nephritis
Taste sour
Glossalgia
Multiple gastrointestinal atresias (disorder)
Abnormal fear/anxiety-related behavior
Symmetric great toe depigmentation
Cortical diaphyseal thickening of the upper limbs
ACROMEGALY DUE TO PITUITARY ADENOMA 1
PITUITARY ADENOMA 1, MULTIPLE TYPES
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Pulmonary hemorrhage
inborn aminoaciduria
Shortened trunk
Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondylodysplasia And Premature Pubarche
Lumbar scoliosis
HELIX SYNDROME
Acalculous Cholecystitis
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
ACTH Deficiency, Isolated
Flank Pain
Congenital dilatation of ureter
Sarcoma of kidney
Renal pain
Hydronephrosis Due To Pujo
Metrorrhagia
Loose Anagen Hair Syndrome
Pseudofolliculitis barbae (disorder)
RETINITIS PIGMENTOSA 70
Retinitis Pigmentosa 18
COWCHOCK SYNDROME
Abnormal speech discrimination
DEAFNESS, X-LINKED 5 (disorder)
Sketetal dysplasia coarse facies mental retardation
Abnormal middle ear reflexes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
Abnormality of the striatum
Deafness, Autosomal Dominant 2A
Neurodermatitis
Platelet aggregation
Platelet aggregation test result
Platelet aggregation measurement
ABDOMINAL OBESITY-METABOLIC SYNDROME 3
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Acute rhabdomyolysis
Abnormality of peripheral nerve conduction
HYPEREKPLEXIA 3
Bifid ureter
THAUVIN-ROBINET-FAIVRE SYNDROME
IgA myeloma
Hemorrhagic Septicemia, Viral
Osteosclerotic Myeloma
Spastic Paraplegia-50, Autosomal Recessive
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
Spastic Paraplegia 42, Autosomal Dominant
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
Ovarian Dysgenesis 2
Premature Ovarian Failure 4
aphasic
Receptive aphasia (finding)
Temporal epilepsy, familial
Fetal anencephaly
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6
Muscular Dystrophy, Congenital, Type 1D
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Leber Congenital Amaurosis 14
Retinal Dystrophy, Early-Onset Severe, Lrat-Related
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
Synostosis of Talus and Calcaneus with Short Stature
Progressive fusion 2nd-5th pip joints
Progressive conductive hearing impairment
Fusion of midphalangeal joints
Absent distal phalanges
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
Congenital stapes ankylosis
BRACHYDACTYLY, TYPE B2 (disorder)
Congenital conductive hearing loss
Proximal symphalangism of hands
Hypoplastic spinal processes
COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 2
Hypoparathyroidism - X-linked
HYPERPARATHYROIDISM 4
Projectile vomiting
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
Progressive flexion contractures
Polymicrogyria, anterior to posterior gradient
Cobblestone Complex
Frontoparietal polymicrogyria
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
DEAFNESS, AUTOSOMAL RECESSIVE 68
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
Achondrogenesis type 1A
Fracture of multiple ribs
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE
PEHO-Like Syndrome
Undetectable visual evoked potentials
Nasopharyngitis
Cerebral dysgenesis
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Leukodystrophy, Hypomyelinating, 2
Absent tragus
Left Ventricular Function
Partial Paralysis (Paresis) Vocal Cords
Vocal cord paresis in severe cases
CODAS syndrome
Hoarse voice due to vocal cord paresis
Weakness of vocal cord
CONE-ROD DYSTROPHY 18
Foveal hyperpigmentation
Spondylosis
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalciuria, childhood idiopathic
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2
Headache Disorders
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
PITT-HOPKINS-LIKE SYNDROME 2
SCHIZOPHRENIA 17
CHROMOSOME 2p16.3 DELETION SYNDROME
Primary hyperoxaluria type 2
Deafness, Autosomal Recessive 9
Auditory Neuropathy, Nonsyndromic Recessive
Absence of acoustic reflex
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA
Perineal fistula
Patellar hypoplasia
Aplasia of metacarpal bones
Juvenile zonular cataracts
Midface capillary hemangioma
Rapadilino syndrome
Aphalangy of the hands
Anomalous splenoportal venous system
Stiff interphalangeal joints
Peroxisome Biogenesis Disorder, Complementation Group 9
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 8B
Nonsyndromic cleft lip with or without cleft palate
Cholestasis, progressive familial intrahepatic 4
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
X-Linked, Spastic Paraplegia, Hereditary
Bile Acid Synthesis Defect
Bile Acid Synthesis Defect, Congenital, 3
Chronic tophaceous gout
gout tophaceous
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
Diarrhea due to drug
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
Sickle Beta 0 Thalassemia
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RNA Virus Infections
Other specified diabetes mellitus
Postpancreatectomy hypoinsulinemia
Diabetes mellitus due to genetic defect in insulin action
Diabetes mellitus due to genetic defect in beta cell function
Irregular tarsal ossification
Ivory epiphyses of the toes
Irregular ankle bone maturation
postprocedural diabetes mellitus
secondary diabetes mellitus NEC
DEAFNESS, AUTOSOMAL DOMINANT 68
Hallucinations, Organic
Hallucinations, Elementary
Hallucinations, Olfactory
Hallucinations, Gustatory
Hallucinations, Somatic
Hallucinations, Mood Congruent
Hallucinations, Mood Incongruent
Verbal auditory hallucinations
Hallucinations, Visual, Unformed
Hallucinations, Visual, Formed
Hallucinations, Dissociative
Hallucinations, Kinesthetic
Hallucinations, Formed, of People
Hallucinations, Reflex
Hallucination of Body Sensation
Hallucinations, Internal Body Sensation
Testicular infection
Chromosome 4q- Syndrome
Shoulder Dislocation
Dislocation, multiple
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
Desbuquois syndrome
Generalized bone demineralization
Spondyloepiphyseal dysplasia, Omani type
Enlarged metaphyses
Larsen syndrome, recessive type
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
Bilateral elbow dislocations
Broad distal phalanges of all fingers
Fixed elbow flexion
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
Low-set nipples
Zunich neuroectodermal syndrome
Hyperphosphatasia with Mental Retardation
Increased total iron binding capacity
Abnormal proerythroblast morphology
Hypoplasia of the lesser trochanter
Patella aplasia, coxa vara, tarsal synostosis
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
Wide capital femoral epiphyses
Talocalcaneal synostosis
Fusion of foot joint
USHER SYNDROME, TYPE IIB, FORMERLY
Usher syndrome, type 2C
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
Muscular dystrophy, limb-girdle, type 1A
Spheroid body myopathy
Limited knee flexion/extension
MYOPATHY, MYOFIBRILLAR, 3
Hennekam lymphangiectasia lymphedema syndrome
Serum LDL cholesterol measurement
Soft, doughy skin
Recurrent mandibular subluxations
Frontal open bite
Gingival hyperkeratosis
Spontaneous neonatal pneumothorax
Abnormality of primary molar morphology
Abnormality of subcutaneous fat tissue
Aging
Autoamputation
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
Transitional cell papilloma, benign
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
Myopathy, Myofibrillar, Bag3-Related
CARDIOMYOPATHY, DILATED, 1HH
Lower eyelid coloboma
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
LEUKODYSTROPHY, HYPOMYELINATING, 11
Gasping for breath
BREAST CANCER, EARLY-ONSET
CORTISONE REDUCTASE DEFICIENCY 1
Myoclonic Cerebellar Dyssynergia
Herpes Zoster Oticus
MYOCLONUS AND ATAXIA
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED 7
Cervical C3/C4 vertebral fusion
MYASTHENIC SYNDROME, CONGENITAL, 22
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)
Charcot-Marie-Tooth disease, Type 2B2
Charcot-Marie-Tooth disease, Type 2A
Nuclear sclerosis
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
Amelogenesis imperfecta pigmented hypomaturation type
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Tufted angioma of skin
ATRIAL FIBRILLATION, FAMILIAL, 15
Dilated cardiomyopathy secondary to viral myocarditis
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
Slowed Nerve Conduction Velocity, Autosomal Dominant
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Large placenta
Senior-Loken Syndrome 5
NEPHRONOPHTHISIS 3
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
Extraversion (Psychology)
OBESITY, ASSOCIATION WITH
Epilepsy, Familial Mesial Temporal Lobe
NEPHROTIC SYNDROME, TYPE 12
SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
Short metacarpals with rounded proximal ends
GELEOPHYSIC DYSPLASIA 1
Irregular capital femoral epiphysis
CHOANAL ATRESIA, POSTERIOR
Abnormality of the soft palate
Episodic tachypnea
JOUBERT SYNDROME 25
Other congenital malformation syndromes with other skeletal changes
Opitz trigonocephaly syndrome
Mainzer-Saldino Disease
Asphyxiating thoracic dysplasia [Jeune]
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY
RETINITIS PIGMENTOSA 80
DEAFNESS, AUTOSOMAL RECESSIVE 104
Kleefstra Syndrome
DYSTONIA 28, CHILDHOOD-ONSET
MENTAL RETARDATION, X-LINKED 104
Chronic kidney disease stage 1
Cleft mandible
Burn-Mckeown syndrome
Absence of lower central incisor
Richieri Costa Pereira syndrome
Cleft lower alveolar ridge
Abnormality of the aryepiglottic fold
Tibial deviation of toes
Aplasia of the epiglottis
Agenesis of mandibular central incisor
Notch of lower alveolar process
Cleft of lower gingiva
Cleft of lower alveolar process
Genital edema
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Increased red cell hemolysis by shear stress
Exercise-induced hemolysis
LYMPHEDEMA, HEREDITARY, III
Bowing of vocal cord
AMYOTROPHIC LATERAL SCLEROSIS 21
JOUBERT SYNDROME 23
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Aplasia cutis congenita over the scalp vertex
Lenz Majewski hyperostotic dwarfism
Progressive sclerosis of skull base
Sertoli cell neoplasm
Dwarfism tall vertebrae
Three M Syndrome 1
Protein S measurement
PARKINSON DISEASE 19A, JUVENILE-ONSET
PARKINSON DISEASE 19B, EARLY-ONSET
Spondyloepimetaphyseal dysplasia, Genevieve type
Happy demeanor
Pulmonary artery sling
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
Dense metaphyseal bands
Androstenedione measurement
OROFACIODIGITAL SYNDROME XV
phonological developmental disorder
Ochoa syndrome
UROFACIAL SYNDROME 2
NEPHROTIC SYNDROME 15
COLE-CARPENTER SYNDROME 2
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5
DEAFNESS, AUTOSOMAL DOMINANT 67
YOU-HOOVER-FONG SYNDROME
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
Segmental demyelination
Aplasia/Hypoplasia of the hallux
Aplasia of the 1st metacarpal
Upper motor neuron dysfunction
Yunis Varon syndrome
Polymicrogyria, Bilateral Occipital
AMYOTROPHIC LATERAL SCLEROSIS 11
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
Abnormality of the parietal bone
Bilateral external ear deformity
Abnormality of the occipital bone
Abnormality of dental structure
Aplasia of the distal phalanx of the hallux
Aplasia/hypoplasia of the 1st metatarsal
Aplasia of the distal phalanges of the hand
Shortening of all distal phalanges of the toes
Abnormal pelvis bone morphology
Spastic paraplegia 8, autosomal dominant
Abnormality of the tricuspid valve
Abnormality of the fontanelles or cranial sutures
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
WEBB-DATTANI SYNDROME
Lipomatosis, Familial Benign Cervical
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
MECKEL SYNDROME 12
Ankle edema (finding)
Impaired ocular abduction
Impaired ocular adduction
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS
Tibial torsion
Bilateral radial aplasia
SCHIZOPHRENIA 5
Shoulder muscle hypoplasia
Aplasia/hypoplasia of the humerus
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
Pregnancy Complications, Infectious
Inflammatory Bowel Disease 16
Neoplasms, Fibroepithelial
Leiomyomatosis peritonealis disseminata
Cellular leiomyoma
Lujan Fryns syndrome
Blepharophimosis syndrome Ohdo type
Metastatic leiomyosarcoma
Ohdo syndrome, Maat-Kievit-Brunner type
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)
Decreased movement range in interphalangeal joints
Flexion limitation of toes
Atrial Fibrillation, Familial, 4
Long Qt Syndrome 6
LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO
MYOPIA 6 (disorder)
Myopia, susceptibility to
Spider nevus
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
RETINITIS PIGMENTOSA 37 (disorder)
Neonatal maladjustment syndrome
Brugada Syndrome 6
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
Hypoplasia of the calcaneus
Reactive depression
Transient Situational Disturbance
Expressive language delay
Infantile Sialic Acid Storage Disease
Sialuria, French type
Communication delay
Sick Sinus Syndrome 2, Autosomal Dominant
Brugada Syndrome 8
Cancer Stage (Antiquated)
Hypospadias 2, X-Linked
Muscular Dystrophy, Limb-Girdle, Type 1D
Dream disorder
Chronic plaque-like oral candidiasis
Dyschromatosis universalis
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
Familial pseudohyperkalemia
OPTIC ATROPHY 5 (disorder)
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
Acromegaloid facial appearance syndrome
CARDIOMYOPATHY, DILATED, 1O
Large sella turcica
Widened posterior fossa
Broad first metatarsal
Congenital hypertrophy of left ventricle
ATRIAL FIBRILLATION, FAMILIAL, 12
Hypoplastic ischiopubic rami
Hyperplasia of hypophysial fossa
Large hypophysial fossa
Mental Retardation, X-Linked, Syndromic, Turner Type
Neurotic Disorders
Limited elbow flexion/extension
Hypoplastic distal humeri
Anterolateral radial head dislocation
Micromelic dysplasia, congenital, with dislocation of radius
Deafness, Autosomal Recessive 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
Occupation-related stress disorder
response to antidepressant
PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE
Combined Oxidative Phosphorylation Deficiency 3
Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex III
Respiratory complex III deficiency
Respiratory complex I deficiency
Decreased activity of mitochondrial complex IV
Chromosomal breakage induced by ionizing radiation
Congenital cardiomyopathy
Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type Ic
MIRROR MOVEMENTS 3
GLAUCOMA 1, OPEN ANGLE, E
AMYOTROPHIC LATERAL SCLEROSIS 12
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION
Long Qt Syndrome 11
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED
Hyperlysinemia, Periodic
Saccharopinuria
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
Alpha-Aminoadipic Semialdehyde Deficiency Disease
Saccharopine dehydrogenase deficiency
Tactile Agnosia
Agraphesthesia
Mental Retardation, X-Linked, with Epilepsy
PARKINSONISM WITH SPASTICITY, X-LINKED
Woolly hair, congenital
HYPOTRICHOSIS 8
Woolly Hair, Autosomal Recessive
Mucinous adenocarcinoma of colon
Elevated plasma citrulline
Granulomatous Angiitis
Congenital absence, atresia and stricture of auditory canal (external)
Congenital atresia or stricture of osseous meatus
Food intolerance (disorder)
Acute angle-closure glaucoma
Retinitis Pigmentosa 31
Pericarditis, Constrictive
Pleuropericarditis
Flattened metacarpal heads
Generalized morning stiffness
Bohring syndrome
Midline facial capillary hemangioma
Fused sternal ossification centers
Thick anterior alveolar ridges
Abnormal renal corticomedullary differentiation
COENZYME Q10 DEFICIENCY, PRIMARY, 8
Mesothelial Neoplasms
BLEEDING DISORDER, PLATELET-TYPE, 18
Molybdenum Cofactor Deficiency, Complementation Group C
IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3
response to irinotecan
Acrofacial dysostosis Rodriguez type
Lacrimal Apparatus Diseases
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
HIV lipodystrophy
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47
Wallerian Degeneration
Traumatic Brain Injury
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
MYOPATHY, CENTRONUCLEAR, 5
SECKEL SYNDROME 9
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
Abnormality of branched chain family amino acid metabolism
SOTOS SYNDROME 3
Cutaneous anthrax
LISSENCEPHALY 6 WITH MICROCEPHALY
CILIARY DYSKINESIA, PRIMARY, 29
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies
CORTICAL MALFORMATIONS, OCCIPITAL
IMMUNODEFICIENCY, COMMON VARIABLE, 13
NEMALINE MYOPATHY 9
Abnormal myelination
Neuropathy, hereditary motor and sensory, Okinawa type
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
Alzheimer Disease 9
NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
Atrial Septal Defect Sinus Venosus
ATRIAL SEPTAL DEFECT 8
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
Polymicrogyria With Optic Nerve Hypoplasia
Ocular Motility Disorders
Tukel syndrome
Compensatory chin elevation
Levator palpebrae superioris atrophy
Superior rectus atrophy
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Fibrosis of Extraocular Muscles, Congenital, 3C
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
Nonprogressive restrictive external ophthalmoplegia
Whispering dysphonia, hereditary
Leukodystrophy, Hypomyelinating, 6
Intraaxonal accumulation of curvilinear profiles
PANCREATIC AND CEREBELLAR AGENESIS
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
Tick-Borne Infections
Tick-Borne Diseases
Coloboma, cleft lip-palate and mental retardation syndrome
Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation
COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Glucagon measurement
Bowen-Conradi syndrome
H5N1 influenza
FANCONI ANEMIA, COMPLEMENTATION GROUP V
RETINITIS PIGMENTOSA 38 (disorder)
Lymphoma of intestine
BIRK-LANDAU-PEREZ SYNDROME
Threatened abortion
JOUBERT SYNDROME 33
Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 4
Chromosome 1q43-Q44 Deletion Syndrome
CHROMOSOME 2q23.1 DELETION SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
HELSMOORTEL-VAN DER AA SYNDROME
Distal monosomy 1q
Mediastinitis
Otitis Externa
Pneumonia, Necrotizing
Lemierre Syndrome
Ischemic foot
Mental retardation X-linked, South African type
Photosensitive tonic-clonic seizures
Loss of ability to walk in first decade
Mental Retardation, X-Linked, Syndromic, Christianson Type
Conspicuously happy disposition
Bacteremia due to Methicillin resistant Staphylococcus aureus
Congenital dyserythropoietic anemia, type I
Reduced activity of N-acetylglucosaminyltransferase II
Endopolyploidy on chromosome studies of bone marrow
COWDEN SYNDROME 7
Craniolenticulosutural Dysplasia
Forehead hyperpigmentation
Punctate lenticular opacities
Posterior wedging of vertebral bodies
Agenesis of pulmonary artery
Osteogenesis Imperfecta Type VII
Externally rotated/abducted legs
Hypoplastic pulmonary veins
Osteogenesis imperfecta, type 7
Cutis laxa, recessive, type I
MACULAR DEGENERATION, AGE-RELATED, 3
Diverticulum of renal calyx
Vascular tortuosity
Cutis laxa, autosomal recessive
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
DEAFNESS, AUTOSOMAL RECESSIVE 48
USHER SYNDROME, TYPE IJ
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
Spinocerebellar ataxia 36
Cerebrospinal fluid lymphocytosis
AICARDI-GOUTIERES SYNDROME 4
Generalized muscular appearance from birth
Cystic angiomatosis of bone
Reduced intrathoracic adipose tissue
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE
Abnormal platelet granules
Secondary microcephaly
JOUBERT SYNDROME 21
Microlithiasis
Progressive pulmonary function impairment
Intraalveolar nodular calcifications
Retinitis Pigmentosa 13
ESTRONE MEASUREMENT
response to methotrexate
Tip-toe gait
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
Microcephaly-capillary malformation syndrome
Reye Syndrome
Stage IB Squamous Cell Lung Carcinoma AJCC v7
Parathyroid hormone measurement
Bilateral hydronephrosis
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
Diarrhea 3, Secretory Sodium, Congenital, Syndromic
In(Lu) phenotype (finding)
Bone marrow biopsy shows erythroid hyperplasia
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
Congenital dyserythropoietic anemia type IV
Bone marrow smear shows erythroid hyperplasia
Absence of Lutheran antigen on erythrocytes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA
Calcinosis universalis
Hemiatrophy
Elevated 8-dehydrocholesterol
Elevated 8(9)-cholestenol
Stippled calcification in carpal bones
Tarsal stippling
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
MEND SYNDROME
Abnormality of the odontoid process
Disorder of magnesium metabolism
Renal calcium wasting
Hypocitraturia
HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING
PREECLAMPSIA/ECLAMPSIA 5
EPILEPSY, PROGRESSIVE MYOCLONIC, 8
Chromosome 2, monosomy 2q24
Bullet-shaped distal phalanx of the hallux
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
Infantile GM 2 gangliosidosis
OPTIC ATROPHY 11
Microcephaly with Chorioretinopathy, Autosomal Recessive
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
PREMATURE OVARIAN FAILURE 8
Other deletions of part of a chromosome
Adjustment Sleep Disorder
Environmental Sleep Disorder
Limit-Setting Sleep Disorder
Nocturnal Eating-Drinking Syndrome
Sleep Disorders, Extrinsic
SMITH-MAGENIS SYNDROME CHROMOSOME REGION
menstrual symptoms
Potocki-Lupski syndrome
17p11.2 Monosomy
YUAN-HAREL-LUPSKI SYNDROME
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder)
Erratic myoclonus
PSORIASIS 13, SUSCEPTIBILITY TO
CANDIDIASIS, FAMILIAL, 8
Spastic Paraplegia, Ataxia, And Mental Retardation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
Cervico-Brachial Neuralgia
Epiphyses, Slipped
Brachial Neuralgia
Brachial Plexus Neuritis
Brachial Plexus Neuropathies
Neuralgic Amyotrophy
Deafness, Autosomal Recessive 1b
Deafness, Autosomal Dominant 3B
SENIOR-LOKEN SYNDROME 7
BARDET-BIEDL SYNDROME 16
Glutamate formiminotransferase deficiency
Hypersegmentation of neutrophil nuclei
Positive ferric chloride test
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2
DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
Floating-harbor syndrome
Sepsis-associated lung injury
Human chorionic gonadotropin measurement
Breast Mucosa-Associated Lymphoid Tissue Lymphoma
Colorectal Mucosa-Associated Lymphoid Tissue Lymphoma
IMMUNODEFICIENCY 12
Carcinoma of vocal cord
Bilateral choanal atresia/stenosis
Bilateral choanal atresia
Laurence-Moon Syndrome
Sick Building Syndrome
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Spastic Paraplegia 39, Autosomal Recessive
Long eyebrows
Appetite Disorders
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia 3, Anhidrotic
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
SPINOCEREBELLAR ATAXIA 28
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
ANAUXETIC DYSPLASIA 2
Secondary male infertility
Plaque morphea
Deep Circumscribed Morphea
PONTOCEREBELLAR HYPOPLASIA, TYPE 10
Michelin tire baby syndrome
SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
H/O: menorrhagia
Bile acid CoA ligase deficiency and defective amidation
ICHTHYOSIS PREMATURITY SYNDROME
Food allergy in infants
Acute urinary tract infection
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
Static encephalopathy
BARDET-BIEDL SYNDROME 19
MICROPHTHALMIA, SYNDROMIC 11
Agenesis of pineal gland
Allergic colitis
MENTAL RETARDATION, X-LINKED 101
Prostate cancer metastatic to bone
Fasciitis, Plantar
Fibromatosis, Plantar
Fatty acid oxidation defects
Deafness, Autosomal Recessive 28
Other congenital corneal malformations
Corneal thinning
CORNEA PLANA 1
CORNEA PLANA 2
Congenital malformation of cornea NOS
Capillary thrombosis
Autoimmune thrombotic thrombocytopenic purpura
BRITTLE CORNEA SYNDROME 2
Keratoglobus
Abnormality of hair pigmentation
Urge Incontinence
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
rapid ventricular response
Disorder of small intestine
Leukodystrophy, Dysmyelinating, with Oligodontia
Interleukin 12 Measurement
Interleukin 13 Measurement
DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 (disorder)
Hypopnea syndrome
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
Glomangioma
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X
IMMUNODEFICIENCY 8
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
CARDIOMYOPATHY, DILATED, 1C (disorder)
Myopathy, Myofibrillar, Zasp-Related
LEFT VENTRICULAR NONCOMPACTION 3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24
Upper limb spasticity
Primary lateral sclerosis juvenile
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)
Expressive language impairment
alpha, alpha-Trehalase deficiency
Renal hypouricemia
Intracranial Embryonal Tumor, Not Otherwise Specified
ROSE Cluster 2
Salivary Gland Carcinoma ex Pleomorphic Adenoma
Neurofibromatosis 1 and 2 (NF1 and NF2)
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
Pili annulati
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
Hemophilus influenza infection
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
Familial Sudden Death
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
POLYCYSTIC LIVER DISEASE 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Other malformations of cerebral vessels
Cerebral Venous Angioma
Nonruptured congenital cerebral aneurysm
Congenital malformation of cerebral vessels NOS
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11
PSEUDO-TORCH SYNDROME 2
Systemic lupus erythematosus encephalitis
Other specified degenerative diseases of nervous system
EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA
EXCESS LMW-DNA
AICARDI-GOUTIERES SYNDROME 3
Deep white matter hypodensities
Increased CSF interferon alpha
Vasculopathy, Retinal, With Cerebral Leukodystrophy
AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT
Punctate vasculitis skin lesions
AICARDI-GOUTIERES SYNDROME 7
Chilblain lesions
Chronic CSF lymphocytosis
EPISODIC PAIN SYNDROME, FAMILIAL, 3
Wilms tumor and radial bilateral aplasia
DNA Repair-Deficiency
DNA Repair-Deficiency Disorders
ATAXIA-OCULOMOTOR APRAXIA 4
Spermatic Cord Torsion
Congenital Disorder Of Glycosylation, Type IIID
Familial myelofibrosis
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
VERHEIJ SYNDROME
Temtamy preaxial brachydactyly syndrome
Endocrine-Cerebroosteodysplasia
PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE
Memory, Episodic
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO (finding)
Nerve Growth Factor Measurement
NEPHRONOPHTHISIS 15
NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
Other chronic tubulo-interstitial nephritis
Nonobstructive chronic pyelonephritis NOS
Megalocytic interstitial nephritis
INTERSTITIAL NEPHRITIS, KARYOMEGALIC
Infections of musculoskeletal system
ACHROMATOPSIA 7
Martsolf syndrome
Cryptophthalmos syndrome
Congenital malformation syndromes affecting facial appearance
Acrocephalopolysyndactyly
WARBURG MICRO SYNDROME 3
Ribose 5-Phosphate Isomerase Deficiency
Elevated circulating ribitol concentration
AUTISM, SUSCEPTIBILITY TO, 17
Cranial nerve compression
Areflexia of upper limbs
Abnormality of the twelfth cranial nerve
Abnormality of the eleventh cranial nerve
Distal peripheral sensory neuropathy
Small posterior fossa
Abnormality of the clivus
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT
NEPHRONOPHTHISIS 20
Anal warts
RETINITIS PIGMENTOSA 33 (disorder)
CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
CHROMOSOME 2p25.3 DUPLICATION SYNDROME
CHROMOSOME 2p25.3 DELETION SYNDROME
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54
Psychoses, Alcoholic
Pallor of dorsal columns of the spinal cord
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE
Arima syndrome
NEPHRONOPHTHISIS 14
JOUBERT SYNDROME 19
CONE-ROD DYSTROPHY 19
CATARACT 45
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (disorder)
Chromosome Xp11.23-P11.22 Duplication Syndrome
Infections, Bunyavirus
Hyperplasia of midface
DIABETES MELLITUS, INSULIN-DEPENDENT, 5
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
Polyvalvular heart disease syndrome
WHITE-SUTTON SYNDROME
heart overload
Siderius X-linked mental retardation syndrome
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
Brain Waves
CIC-DUX Sarcoma
Undifferentiated round cell sarcoma
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
NEPHROTIC SYNDROME, TYPE 13
Snail-like ilia
Molar Incisor Hypomineralization
Brugada Syndrome 2
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Cerebral Palsy, Spastic Quadriplegic, 2
POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
Hyperactive patellar reflex
SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
Diffuse swelling of cerebral white matter
Mesomelia-synostoses syndrome
Decreased von Willebrand factor
Reduced quantity of Von Willebrand factor
Impaired thrombin-induced platelet aggregation
Impaired collagen-induced platelet aggregation
Acrodermatitis atrophicans chronica
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
Chronic hyperkalemia
Difficulty in tongue movements
Progressive choreoathetosis
Self-mutilation of tongue and lips due to involuntary movements
Hypokinesia of the tongue
JOUBERT SYNDROME 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49
SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
Pleural Epithelioid Hemangioendothelioma
CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
Segmental myoclonic seizures
MEMORY QUANTITATIVE TRAIT LOCUS
POLYDACTYLY, POSTAXIAL, TYPE A7
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT
Prostate Cancer, Hereditary, 12
POLYENDOCRINE-POLYNEUROPATHY SYNDROME
DEAFNESS, AUTOSOMAL DOMINANT 71
Chromosome 2q32-Q33 Deletion Syndrome
PARKINSON DISEASE 21
Bilateral vocal cord paralysis
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
Johanson-Blizzard syndrome
Intrahepatic biliary atresia
Brainstem dysplasia
COACH syndrome
MECKEL SYNDROME, TYPE 5
JOUBERT SYNDROME 7
Neonatal breathing dysregulation
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43
Orthostatic Hypotensive Disorder, Streeten Type
PERIVENTRICULAR NODULAR HETEROTOPIA 7
Lentiginosis Profusa
Roifman syndrome
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Arthrogryposis renal dysfunction cholestasis syndrome
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
Emery-Dreifuss Muscular Dystrophy 4
Autosomal Recessive Cerebellar Ataxia Type 1
Arhinia, choanal atresia, and microphthalmia
Abnormality of the midface
Hypoplasia of the olfactory bulb
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
Three M Syndrome 2
RETINITIS PIGMENTOSA 78
Mucoepidermoid carcinoma, high grade
Clear cell hidradenoma
Teebi syndrome
Oculomaxillofacial dysostosis
Hypoplasia of lingual frenulum
beta-Endorphin measurement
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
AUTISM, SEVERE
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
Testicular stromal tumor
Cystic Partially Differentiated Nephroblastoma
Pleuropulmonary blastoma type III
Euthyroid multinodular goiter
Rhabdomyosarcoma, Embryonal, 2
DICER1 syndrome
Nasal Chondromesenchymal Hamartoma
Anaplastic sarcoma
Pellagra
Benign Paroxysmal Positional Vertigo
NEUTROPHIL ACTIN DYSFUNCTION
Diaphragmatic Hernia 3
46,XY SEX REVERSAL 9
RETINITIS PIGMENTOSA 12 (disorder)
Pigmented Paravenous Chorioretinal Atrophy
LEBER CONGENITAL AMAUROSIS 8
Paravenous chorioretinal atrophy
CATARACT 36
Congenital atresia of larynx
Laryngeal web
Cryptophthalmos
Cleft ala nasi
Abnormality of the umbilicus
Extension of hair growth on temples to lateral eyebrow
Malformed lacrimal ducts
Lacrimal duct aplasia
Aplasia/Hypoplasia of the sternum
Midline nasal groove
Abnormality of the small intestine
Nostril coloboma
FRASER SYNDROME 3
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
Stuttering, Familial Persistent 1
Brown-Vialetto-Van Laere syndrome
SPINOCEREBELLAR ATAXIA 31 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
FTLD-TDP, TARDBP-RELATED
Amyotrophic Lateral Sclerosis 10
Chronic Traumatic Encephalopathy
Pancreatic malabsorption
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
Refractory cytopenia with multilineage dysplasia and ringed sideroblasts
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
Abnormal iron deposition in mitochondria
Catel Manzke syndrome
Hyperphalangy of the 2nd finger
Complete atrioventricular septal defect
Transient hypogammaglobulinemia of infancy
Immunoglobulin a deficiency 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
LEBER CONGENITAL AMAUROSIS 13
DOWLING-DEGOS DISEASE 2
Endometrial stromal nodule
HYPERMANGANESEMIA WITH DYSTONIA 2
Enlarged labia minora
Genitopatellar Syndrome
Hypoplastic inferior pubic rami
Young Simpson syndrome
Abnormality of the cheek
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
Malignant neoplasm of stomach stage I
Excessive skin wrinkling on dorsum of hands and fingers
Slender long bones with narrow diaphyses
Neonatal wrinkled skin of hands and feet
Exudative Vitreoretinopathy 5
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
DEAFNESS, AUTOSOMAL RECESSIVE 107
DEAFNESS, AUTOSOMAL RECESSIVE 29
RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS
RETINITIS PIGMENTOSA WITHOUT SITUS INVERSUS
Malignant Ovarian Thecoma
White scaling skin
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12
Singleton Merten syndrome
SINGLETON-MERTEN SYNDROME 2
COENZYME Q10 DEFICIENCY, PRIMARY, 2
Osteopoikilosis, Isolated
Mixed sclerosing bone dystrophy
DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED
Melorheostosis with Osteopoikilosis
Complete duplication of the distal phalanges of the hand
MEIER-GORLIN SYNDROME 3
Bile acid synthesis defect, congenital, 4
Giant cell hepatitis on biopsy
Giant cell hepatitis shown on biopsy
Giant cell hepatitis on liver biopsy
Idiopathic glomerulonephritis
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
Cerebral hypoperfusion
Irritable Mood
Immotile cilia
CILIARY DYSKINESIA, PRIMARY, 19
Absent inner and outer dynein arms
SPINOCEREBELLAR ATAXIA 46
DNA Virus Infections
Dehydroepiandrosterone Assay
DEAFNESS, X-LINKED 4 (disorder)
Stage I Esophageal Squamous Cell Carcinoma
Deficiency of sedoheptulokinase
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
Leber Congenital Amaurosis 4
Retinitis Pigmentosa, Juvenile, Aipl1-Related
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)
Leber congenital amaurosis, type 4
CANDIDIASIS, FAMILIAL, 5
IMMUNODEFICIENCY 51
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
RETINITIS PIGMENTOSA 60
SPASTIC PARAPLEGIA 23 (disorder)
Renal Hypodysplasia, Nonsyndromic, 1
Premature graying of body hair
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO
Asymmetry of the ears
Prominent antitragus
Slender ulna
WARBURG MICRO SYNDROME 2
DYSTONIA 7, TORSION (disorder)
CERVICAL DYSTONIA, PRIMARY
Pyramidal disease
RETINITIS PIGMENTOSA 30
Ovarian Germ Cell Tumor
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 2
Combined Oxidative Phosphorylation Deficiency 5
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
Interleukin 25 Measurement
Eye Manifestations
Chromosome 5p13 Duplication Syndrome
Abnormal protein O-linked glycosylation
DEAFNESS, AUTOSOMAL RECESSIVE 31
ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Aberrant subclavian artery
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
Autosomal Chromosome Disorders
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10
GLIOMA SUSCEPTIBILITY 9
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
Congenital viral disease
CHILBLAIN LUPUS 2
CHROMOSOME 15q24 DELETION SYNDROME
CHROMOSOME 15q24 DUPLICATION SYNDROME
Gastrointestinal atresia
WITTEVEEN-KOLK SYNDROME
Other dystonia
Acquired torsion dystonia
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
Woolly scalp hair
Nappy scalp hair texture
Kinky scalp hair texture
Afro-textured scalp hair
OBESITY, SUSCEPTIBILITY TO
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
Moderate receptive language delay
AUTISM, SUSCEPTIBILITY TO, 14A
Cystathioninemia
Disorder of vitamin B12
Decreased methylmalonyl-CoA mutase activity
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
Amyotrophic Lateral Sclerosis, Chmp2B-Related
SPERMATOGENIC FAILURE 18
CILIARY DYSKINESIA, PRIMARY, 37
OROFACIODIGITAL SYNDROME XIV
TREMOR, HEREDITARY ESSENTIAL, 5
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Dysplasia of eye
Hypoplasia of eye
NANOPHTHALMOS 1
NANOPHTHALMOS 4
Phlegmasia Alba Dolens
Schinzel-Giedion syndrome
Increased density of long bones
Wide distal femoral metaphysis
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
Metopic suture patent to nasal root
Stammering
Selective Mutism
Stuttering, Acquired
Other specified congenital malformations of brain
Stuttering, Adult
Stuttering, Childhood
Selective mutism specific to childhood and adolescence
AUTISM, SUSCEPTIBILITY TO, 15
Pitt-Hopkins-Like Syndrome 1
Arnold-Chiari syndrome, type IV
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT
PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y
Hyperlipidemia, group A
Retinitis Pigmentosa 11
Monorchism
Absent testes
Orofaciodigital syndrome 4
Abnormality of the tongue
Aplasia/Hypoplasia of the tibia
JOUBERT SYNDROME 18
Oral synechia
Resorption of mandible
Goldberg-Shprintzen megacolon syndrome
Primrose syndrome
Superiorly displaced ears
SENIOR-LOKEN SYNDROME 9
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
RETINITIS PIGMENTOSA 71
RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
Ablepharon
3-Phosphoglycerate dehydrogenase deficiency
Yellow subcutaneous tissue covered by thin, scaly skin
Phosphoglycerate Dehydrogenase Deficiency
Aplasia of the eyelids
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
HERMANSKY-PUDLAK SYNDROME 9
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2
REVESZ SYNDROME (disorder)
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Fine, reticulate skin pigmentation
Progressive truncal ataxia
Hypermyelinated retinal nerve fibers
Swan neck-like deformities of the fingers
RENAL HYPODYSPLASIA/APLASIA 2
PERRAULT SYNDROME 6
Insulin lipoatrophy
Serous surface papillary carcinoma
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
Infantile free sialic acid storage disease
N-Acetylneuraminic acid storage disease
Free sialic acid storage disease
Amaurosis hypertrichosis
Cone rod dystrophy amelogenesis imperfecta
Jalili syndrome
Acrodermatitis continua of Hallopeau
AGEP
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
Reduced intraabdominal adipose tissue
5-oxoprolinase deficiency
SERUM CHLORIDE ION TESTS
Serum chloride level result
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
Abnormal respiratory motile cilium morphology
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder)
RENAL-HEPATIC-PANCREATIC DYSPLASIA
Renal hepatic pancreatic dysplasia Dandy Walker cyst
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
Abnormal liver parenchyma morphology
Isobutyryl-CoA dehydrogenase deficiency
IMMUNODEFICIENCY 52
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
SUDDEN CARDIAC FAILURE, INFANTILE
MECKEL SYNDROME, TYPE 9
JOUBERT SYNDROME 27
Trichostrongyloidiasis
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
T-cell lymphocytosis
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
CHOPS SYNDROME
Hyperkalemic metabolic acidosis
Ectropion uveae
ANTERIOR SEGMENT DYSGENESIS 8
Social and occupational deterioration
Severe recurrent major depression
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
Disorder of sulfur-bearing amino acid metabolism
Striatonigral Degeneration
Myoglobinuria, Recurrent
COENZYME Q10 DEFICIENCY, PRIMARY, 1
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
BARDET-BIEDL SYNDROME 9
XIA-GIBBS SYNDROME
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Multiple Mitochondrial Dysfunctions Syndrome
Methylmalonic Aciduria and Homocystinuria, CblD Type
Homocystinuria, CblD Type, Variant 1
Methylmalonic Aciduria, CblD Type, Variant 2
Missed abortion
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11
Kaufman oculocerebrofacial syndrome
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)
Mediastinal Germ Cell Tumor
Partial Tetrasomy
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
RITSCHER-SCHINZEL SYNDROME 2
Bilateral superior oblique palsy
Dream enactment behavior
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Osteopetrosis and infantile neuroaxonal dystrophy
Osteopetrosis, Autosomal Recessive 5
Decreased osteoclast count
Rhabdoviridae Infections
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Increased lactate dehydrogenase activity
Scotoma, Ring
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
Fowler syndrome
Tn Syndrome
Duplication of thumb phalanx
FANCONI ANEMIA, COMPLEMENTATION GROUP T
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4
Hydrolethalus syndrome
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13
KBG syndrome
Vertebral arch anomaly
Microdeletion syndromes
16q24.3 microdeletion syndrome
Diffuse large B-cell lymphoma of central nervous system
Stage IV Cutaneous Melanoma AJCC v6 and v7
Grade III Meningioma
High Grade B-Cell Lymphoma, Not Otherwise Specified
Autoimmune hepatitis type 1
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
OVARIAN DYSGENESIS 3
Schnyder crystalline corneal dystrophy
LEUKODYSTROPHY, HYPOMYELINATING, 10
Simple cyst
Acquired renal cystic disease
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4
Elevated serum transaminases during infections
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
Ulcerative colitis, quiescent
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
Gorlin Chaudhry Moss syndrome
Petty Laxova Wiedemann syndrome
Aplasia/Hypoplasia of the nasal bone
Dimethylglycine Dehydrogenase Deficiency
Phosphoserine Aminotransferase Deficiency
NEU-LAXOVA SYNDROME 2
Hyposerinemia
Hypoglycinemia
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
Microcephaly-Micromelia Syndrome
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
Small eyes
Narrow palpebral fissure
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
Microphthalmia, Isolated 3
Empty Sella Syndrome, Primary
Empty Sella Syndrome, Secondary
Keratoconus 1
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
Abnormality of corneal endothelium
Glossitis
Encephalomyelitis, Western Equine
Murray valley encephalitis
Vibratory urticaria
Vibratory angioedema
Familial dermographism
DERMODISTORTIVE URTICARIA
INFLAMMATORY BOWEL DISEASE 3
Cavitation of lung
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Lateral displacement of the femoral head
BIRBECK GRANULE DEFICIENCY
Congenital hypothyroidism with ectopic thyroid
Thyroid Dyshormonogenesis 6
Decreased T3/T4 ratio
Arrest of spermatogenesis
PREGNANCY LOSS, RECURRENT, 4
Recurrent spontaneous abortion
IL21R IMMUNODEFICIENCY
Chronic hepatitis due to cryptospridium infection
Fungal infection of lung
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
Mitochondrial myopathy with lactic acidosis
Moderate sensorineural hearing impairment
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
Diarrhea 4, Malabsorptive, Congenital
Giant Axonal Neuropathy, Autosomal Dominant
GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
Impaired distal tactile sensation
Familial hypophosphatemia
ALBINISM, OCULOCUTANEOUS, TYPE VI
Verruciform xanthoma of skin
CK SYNDROME
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,XY GONADAL DYSGENESIS, COMPLETE, DHH-RELATED
HOLOPROSENCEPHALY 11
RETINITIS PIGMENTOSA 56
INFLAMMATORY BOWEL DISEASE 2
Respiratory papilloma
ISLETS OF LANGERHANS, ABSENCE OF
SCHISTOSOMA MANSONI INFECTION, SUSCEPTIBILITY/RESISTANCE TO
Abruzzo Erickson syndrome
Fibrofolliculoma
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
Facial palsy secondary to cranial hyperostosis
Sclerotic scapulae
Cortically dense long tubular bones
Optic atrophy from cranial nerve compression
GALLOWAY-MOWAT SYNDROME 5
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
Chondrodysplasia, Megarbane-Dagher-Melki Type
MEIER-GORLIN SYNDROME 6
Orstavik Lindemann Solberg syndrome
Heart defect, tongue hamartoma and polysyndactyly
BARDET-BIEDL SYNDROME 15
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE
Spastic paraplegia 3, autosomal dominant
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
TREACHER COLLINS SYNDROME 2
Mononeuropathies
EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
Pontocerebellar Hypoplasia Type 2
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
Neutral Lipid Storage Disease with Myopathy
Abnormal facial muscle tone
Craniofacial dystonia
Abnormal craniofacial posture
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
COENZYME Q10 DEFICIENCY, PRIMARY, 7
Irregular ossification at anterior rib ends
Microcephaly with Simplified Gyral Pattern
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
Abnormality of vitamin metabolism
Kaposi's sarcoma of palate
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
Mental Retardation, X-Linked Nonsyndromic
MENTAL RETARDATION, X-LINKED 61
NEPHRONOPHTHISIS 18
Invasive Pneumococcal Disease, Recurrent Isolated, 1
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder)
Oculocutaneous albinism type 4
Deafness, Autosomal Recessive 3
MUCOLIPIDOSIS II ALPHA/BETA (disorder)
Pentosuria
Mental Retardation, Autosomal Recessive 2
Acquired platelet disorder
BLEEDING DISORDER, PLATELET-TYPE, 11
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY
SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
JOUBERT SYNDROME 2
MECKEL SYNDROME, TYPE 2
Enlarged fossa interpeduncularis
Dysgenesis of the cerebellar vermis
Breast Carcinoma Metastatic in the Skin
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Microcephaly with spastic quadriplegia
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
Birk-Barel Mental Retardation Dysmorphism Syndrome
SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT
CILIARY DYSKINESIA, PRIMARY, 6
Absent/shortened outer dynein arms
Abnormal ciliary motility
DESANTO-SHINAWI SYNDROME
CHROMOSOME 10p12-p11 DELETION SYNDROME
MAST SYNDROME
Spina bifida of cervical region
TOWNES-BROCKS SYNDROME 2
Acne Keloid
Fissure in skin
Keloidalis nuchae
Ichthyosis follicularis with alopecia and photophobia (IFAP)
Ichthyosis follicularis atrichia photophobia syndrome
Unilateral chest hypoplasia
Hypoplasia of the bladder
Olmsted syndrome
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED
Thin fingernail
CILIARY DYSKINESIA, PRIMARY, 22
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas
Paroxysmal supraventricular tachycardia
Wide QRS complex
Accessory Atrioventricular Bundle (disorder)
Left ventricular outflow tract obstruction
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
Glycogen Storage Disease of Heart, Lethal Congenital
Infantile cardiomyopathy
Fasciculoventricular Accessory Pathway
Nodoventricular Accessory Pathway
Diabetes in old age
WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
Ventricular preexcitation with multiple accessory pathways
Episodic rapid heart beat
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
DEAFNESS, AUTOSOMAL RECESSIVE 66
NEPHRONOPHTHISIS 19
SCLEROSING CHOLANGITIS, NEONATAL
DEAFNESS, AUTOSOMAL RECESSIVE 93
LEUKODYSTROPHY, HYPOMYELINATING, 13
INFANTILE LIVER FAILURE SYNDROME 1
JOUBERT SYNDROME 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
ALAZAMI SYNDROME
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
Decreased visual acuity, nonprogressive
INFANTILE LIVER FAILURE SYNDROME 2
Nonprogressive visual loss
LIPOYLTRANSFERASE 1 DEFICIENCY
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
PARKINSON DISEASE 12
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
JOUBERT SYNDROME 32
Lateral displacement of patellae
Pseudoepiphyses of the proximal phalanges of the hand
Duplication of the proximal phalanx of the hallux
Complete duplication of proximal phalanx of the thumb
Vancomycin intermediate staphylococcus aureus infection
Beta-Ureidopropionase Deficiency
Cyclical Cushing's syndrome
OBESITY, AGE AT ONSET OF
cancer recurrence
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
AIDS-related immunoblastic large cell lymphoma
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
Abnormality of the cerebellar vermis
MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
Toxic effect of heavy metal
Sneddon Syndrome
Cutaneous polyarteritis nodosa
Ideational Apraxia
Apraxia, Motor
Dressing Apraxia
Apraxia, Gestural
Apraxia, Oral
Apraxia, Facial-Oral
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 5 (disorder)
Apraxia, Articulatory
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
Delayed Emergence from Anesthesia
Postoperative Residual Curarization
Vestibulocerebellar ataxia
DEAFNESS, AUTOSOMAL RECESSIVE 103
Vestibular areflexia
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Interleukin 1 Beta Measurement
Carbohydrate Metabolism, Inborn Errors
GLYCOGEN CONTENT IN SKELETAL MUSCLE, INCREASED
Deafness, Autosomal Recessive 30
DEAFNESS, AUTOSOMAL RECESSIVE 98
Curly hair-ankyloblepharon-nail dysplasia syndrome
Granuloma, Foreign-Body
Meningitis in children
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION
Thrombocytopenia 4
Noncommunicable Diseases
Alkaline phosphatase serum increased
Charcot-Marie-Tooth Disease, Recessive Intermediate A
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k
Charcot-Marie-Tooth disease, Type 2H
Charcot-Marie-Tooth disease, Type 4A, axonal form
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
Inability to walk by childhood/adolescence
Basal lamina 'onion bulb' formation
NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Decreased sialylation of O-linked protein glycosylation
Massive edema
Glomerulonephritis sparse hair telangiectases
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
Pulmonary lymphangiectasia
Plantar telangiectasia
Telangiectasia of extensor surfaces
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome
Mullerian Aplasia and Hyperandrogenism
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis
Abnormality of the adrenal glands
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
Choledocholithiasis
Early childhood caries
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8
Dennie-Morgan fold
Cellulitis of upper eyelid
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Edema of upper eyelid
Infra-orbital fold
Small kidney
Serum lipids high (finding)
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
Cerebrofaciothoracic Dysplasia
Ectopia Lentis with Ectopia of Pupil
Simple ectopia lentis
Ectopia Lentis, Isolated, Autosomal Recessive
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
response to reverse transcriptase inhibitor
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
ADAMS-OLIVER SYNDROME 6
Lucey-Driscoll syndrome (disorder)
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Erythrocytosis, Familial, 3
BARDET-BIEDL SYNDROME 17
Insertional polydactyly
Neonatal jaundice due to delayed conjugation from breast milk inhibitor
Neonatal unconjugated hyperbilirubinemia
Perinatal jaundice
Breastfeeding Jaundice
Pyruvate dehydrogenase phosphatase deficiency
Achromatopsia 3
Iminoglycinuria
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
Impaired renal concentrating ability
Amelogenesis imperfecta and gingival hyperplasia syndrome
Dagger-shaped pulp calcifications
ANIRIDIA 3
Ciliary Dyskinesia, Primary, 5
Progressive Familial Heart Block, Type Ib
Maternal uniparental disomy of chromosome 20
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
Spasmophilia
Tetany, Neonatal
Tetanilla
HYPOMAGNESEMIA 6, RENAL
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION
JOUBERT SYNDROME 3
Joubert syndrome with ocular defect
X-linked Dyggve-Melchior-Clausen syndrome
SMITH-MCCORT DYSPLASIA
Deformed sella turcica
Delayed femoral head ossification
Multicentric femoral head ossification
Multicentric ossification of proximal humeral epiphyses
Multicentric ossification of proximal femoral epiphyses
Abnormality of the ilium
Delayed maturation of the head of the thigh bone
Tumoral Calcinosis, Normophosphatemic, Familial
MIRAGE SYNDROME
MICROHYDRANENCEPHALY
LISSENCEPHALY 4
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
Malignant neoplasm of other major salivary glands
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
Incomprehensible speech
EEG with focal spikes
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
Fused Teeth
Microphthalmia, syndromic 2
Laterally curved eyebrow
Flexion contracture of the 4th toe
Flexion contracture of the 2nd toe
Rifampicin resistant tuberculosis
Colon Serrated Polyposis
SESSILE SERRATED POLYPOSIS CANCER SYNDROME
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
x-ray of toe: polydactyly
BARDET-BIEDL SYNDROME 13
JOUBERT SYNDROME 14
JOUBERT SYNDROME 28
Partial anomalous pulmonary venous connection
Persistent left superior vena cava
STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME
CILIARY DYSKINESIA, PRIMARY, 18
Absent outer dynein arms
Nonmotile sperm
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
Hypochloremic metabolic alkalosis
HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
Hypoinsulinaemia (disorder)
TENORIO SYNDROME
PARAGANGLIOMAS 2 (disorder)
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY
Granular osmiophilic deposits (GROD) in cells
Galectin-3 measurement
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
Xanthinuria, Type II
CILIARY DYSKINESIA, PRIMARY, 15
Abnormal axonemal organization of respiratory motile cilia
Inflammatory Bowel Disease 10
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
Embryonic cyst
Urethrovaginal fistula
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
FANCONI ANEMIA, COMPLEMENTATION GROUP L
Hypermetric saccades
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
Vitamin measurement
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
MYOPATHY, MITOCHONDRIAL, AND ATAXIA
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hydranencephaly with Renal Aplasia-Dysplasia
CILIARY DYSKINESIA, PRIMARY, 10
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27
Blastic plasmacytoid dendritic cell neoplasm (BPDCN)
HAREL-YOON SYNDROME
BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 1/7, DIGENIC
Reticular Dystrophy Of Retinal Pigment Epithelium
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
Peripheral vitreoretinal degeneration
FANCONI ANEMIA, COMPLEMENTATION GROUP I
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58
SHASHI-PENA SYNDROME
THIOPURINES, POOR METABOLISM OF, 2
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
Carcinoma in situ of lung
Recurrent herpes simplex infection of eye
Cervical lymphadenopathy
Dysosteosclerosis
Abnormality of the epiphysis of the femoral head
Wide proximal femoral metaphysis
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
Reduction of neutrophil motility
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
Anal intraepithelial neoplasia I and II (AIN I and II) (histologically confirmed)
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
Alpha ketoadipic aciduria
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Acute renal failure due to ischemia
Marcus Gunn phenomenon
Photosensitivity Disorders
Symblepharon
Hereditary acrokeratotic poikiloderma of Weary
Telangiectases in sun-exposed and nonexposed skin
Abnormality of the preputium
Diffuse skin atrophy
Congenital myopia
Hypoplasia of the retina
Uncontrolled eye movements
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
Enlarged flash visual evoked potentials
RETINITIS PIGMENTOSA 76
Maxillonasal dysplasia, Binder type
Craniopagus
KALLMANN SYNDROME 5 (disorder)
HYPOGONADOTROPHIC HYPOGONADISM 5 WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
Encephaloclastic Proliferative Vasculopathy
GALLOWAY-MOWAT SYNDROME 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8
PEROXISOME BIOGENESIS DISORDER 7B
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
Triangular tongue
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W
LIVER FAILURE, INFANTILE, TRANSIENT
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
Cervical spinal canal stenosis
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cerebellar hypoplasia with endosteal sclerosis
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Conjunctivitis, Acute Hemorrhagic
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
Chronic myelopathy
Nivelon Nivelon Mabille syndrome
Brain very small
Increased calcification of skull
Increased Mineralization of skull
PARKINSON DISEASE 17
CATARACT 38
Exercise-induced lactic acidemia
Microcephaly, Primary Autosomal Recessive, 3
Short rib-polydactyly syndrome, Beemer type
Malformation of the hepatic ductal plate
PONTOCEREBELLAR HYPOPLASIA, TYPE 11
Neuropathy in association with hereditary ataxia
Abnormality of lower lip
2q23.1 microdeletion syndrome
SPERMATOGENIC FAILURE 20
PERIVENTRICULAR NODULAR HETEROTOPIA 6
6q terminal deletion syndrome
Chromosome 15q26-Qter Deletion Syndrome
Low 1-minute APGAR score
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)
Brugada Syndrome 7
ATRIAL FIBRILLATION, FAMILIAL, 16
Alopecia universalis congenita
Marie Unna Hereditary Hypotrichosis 1
Marie Unna congenital hypotrichosis
Generalized papillary lesions
LEBER CONGENITAL AMAUROSIS 3 (disorder)
Retinitis Pigmentosa, Juvenile, SPATA7-Related
LEUKODYSTROPHY, HYPOMYELINATING, 12
RETINITIS PIGMENTOSA 69
WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
CORNELIA DE LANGE SYNDROME 5
Keratitis caused by infection
Wieacker-Wolff syndrome
Congenital foot contractures
Nevus flammeus of the forehead
RETINITIS PIGMENTOSA 42
COLD-INDUCED SWEATING SYNDROME 3
Mesocardia
Biliary atresia with splenic malformation syndrome
HEART AND BRAIN MALFORMATION SYNDROME
Ecthyma
SPERMATOGENIC FAILURE, X-LINKED, 2
Abnormal muscle tone
Pseudogout
Rotator cuff tear arthropathy
CRANIOECTODERMAL DYSPLASIA 3
CRANIOECTODERMAL DYSPLASIA 4
CHONDROCALCINOSIS 2, SPORADIC
Polyarticular chondrocalcinosis
NEMALINE MYOPATHY 10
Anti-cyclic citrullinated peptide antibody level
SARCOIDOSIS, SUSCEPTIBILITY TO, 2
Familial Glucocorticoid Deficiency Type 2
Acid-base disorders
MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
Hypouricemia, Renal, 2
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 2
GOUT SUSCEPTIBILITY 2
DEAFNESS, AUTOSOMAL DOMINANT 64
Hemifacial Spasm
MORM syndrome
Triangular-shaped open mouth
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Orthostatic tremor
PERRAULT SYNDROME 5
Abnormality of the autonomic nervous system
CILIARY DYSKINESIA, PRIMARY, 26
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47
Basan syndrome
Acute hyperammonemia
Abnormality of leucine metabolism
Antenatal onset
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
Autistic spectrum disorder with isolated skills
EPILEPSY, PROGRESSIVE MYOCLONIC, 10
DOWLING-DEGOS DISEASE 4
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z
Thrombocytopenia Robin sequence
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9
Focal T2 hypointense basal ganglia lesion
COENZYME Q10 DEFICIENCY, PRIMARY, 3
COENZYME Q10 DEFICIENCY, PRIMARY, 5
Anal infection
Atrial Septal Defect 4
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
FEBRILE SEIZURES, FAMILIAL, 11
Dissociated Nystagmus
Periodic Alternating Nystagmus
Symptomatic Nystagmus
Spontaneous Ocular Nystagmus
Rebound Nystagmus
Jerk Nystagmus
See-Saw Nystagmus
Retraction Nystagmus
Temporary Nystagmus
Permanent Nystagmus
Unidirectional Nystagmus
Multidirectional Nystagmus
Conjugate Nystagmus
Convergence Nystagmus
Fatigable Positional Nystagmus
Non-Fatigable Positional Nystagmus
LEBER CONGENITAL AMAUROSIS 6 (disorder)
Cone-Rod Dystrophy 13
Adult Liposarcoma
Light complexion
NEPHROTIC SYNDROME, TYPE 11
Abnormal palmar creases
Congenital accessory skin tag
Congenital symmetrical palmoplantar keratosis
Keratoderma, Palmoplantar, Norrbotten Recessive Type
Other specified congenital malformations of skin
Inherited keratosis palmaris et plantaris
Keratosis follicularis [Darier-White]
Hyperkeratosis with erythema
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17
Demyelinating motor neuropathy
SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)
LYMPHEDEMA, HEREDITARY, IC
Convergence Insufficiency
Renal ocular syndrome
Congenital strabismus
Oculootoradial syndrome
Pectoralis major hypoplasia
Palpebral fissure narrowing on adduction
Pectoralis hypoplasia
Upper limb muscle hypoplasia
Hypoplasia of deltoid muscle
MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 35
Limited neck flexion
Desmin related myopathy with Mallory body-like inclusions
Abnormality of mucopolysaccharide metabolism
Abnormality of ganglioside metabolism
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding)
LETHAL CONGENITAL CONTRACTURE SYNDROME 9
Asymmetry of spinal facet joints
Jejunoileal ulceration
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder)
Akinetic rigid syndrome
Selective immunoglobulin E deficiency
Autosomal recessive hyperimmunoglobulin M syndrome
SPINOCEREBELLAR ATAXIA 21
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
Recurrent Meningioma
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C
VLDL cholesterol measurement
Deafness, congenital onychodystrophy, recessive form
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
DEAFNESS, AUTOSOMAL RECESSIVE 86
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
DEAFNESS, AUTOSOMAL DOMINANT 65
Gelastic Epilepsy
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34
Epilepsy of infancy with migrating focal seizures
Stocco dos Santos syndrome
Severe expressive language delay
Lumbosacral hirsutism
CHROMOSOME 6q24-q25 DELETION SYNDROME
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
Short distal phalanx of the 5th toe
Chondroid lipoma
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
Lack of peer relationships
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
Infection due to vancomycin resistant Staphylococcus aureus
SHAHEEN SYNDROME
Aplasia cutis congenita over posterior parietal area
Aplasia cutis congenita on trunk or limbs
Recurrent hand flapping
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
LEFT VENTRICULAR NONCOMPACTION 7
CRANIOECTODERMAL DYSPLASIA 2
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
JOUBERT SYNDROME 9 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder)
JOUBERT SYNDROME 9/15, DIGENIC
Asphyxia
Asphyxiating Thoracic Dystrophy 2
Abnormal activity of mitochondrial respiratory chain
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
ADAMS-OLIVER SYNDROME 2
Epilepsy, Simple Partial
Benign Focal Epilepsy, Childhood
Childhood Benign Occipital Epilepsy
Amygdalo-Hippocampal Epilepsy
Rhinencephalic Epilepsy
Occipital Lobe Epilepsy
Subclinical Seizure
Uncinate Seizures
Digestive Epilepsy
Benign Occipital Epilepsy
PAGET DISEASE OF BONE 6
Mental Retardation, Fra12a Type
Absent peristalsis
Congenital pelviureteric junction obstruction
Stage IIB Osteosarcoma AJCC v7
UV-SENSITIVE SYNDROME 3
MOYAMOYA DISEASE 2
Anaplastic lymphoma kinase positive anaplastic large cell lymphoma
Spasticity of pharyngeal muscles
Spasticity of facial muscles
Hereditary spastic paralysis, infantile onset ascending
Involvement of the corticospinal pathways
Abnormality of the corticospinal tract
Increased tone of facial muscles
Increased stiffness of facial muscles
AUTISM, SUSCEPTIBILITY TO, 18
Bifid nose
Acromelic frontonasal dysplasia
ACROMELIC FRONTONASAL DYSOSTOSIS
Indented bridge of nose
Cleft nasal bridge
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
RETINITIS PIGMENTOSA 68
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
Impervious ureter
Absent corpus callosum cataract immunodeficiency
White matter neuronal heterotopia
Short iliac bones
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
NEPHRONOPHTHISIS 13
Broad phalanx of the toes
SENIOR-LOKEN SYNDROME 8
MYOPATHY, CONGENITAL, WITH NEUROPATHY AND DEAFNESS
SPASTIC PARAPLEGIA 16, X-LINKED (disorder)
Interleukin 4 Measurement
CARDIOMYOPATHY, DILATED, 2B
HEMOCHROMATOSIS, TYPE 2B
Familial Extrahepatic Biliary Atresia
Idiopathic Extrahepatic Biliary Atresia
Elevated transferrin saturation
Van der Woude syndrome 2
Urticaria due to cold and heat
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
KLEEFSTRA SYNDROME 2
Skin-picking
IMMUNODEFICIENCY, COMMON VARIABLE, 11
Intercostal muscle weakness
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dwarfism
Abducens Nerve Diseases
Brachyolmia Type 3
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)
Irregular, rachitic-like metaphyses
Severe carpal ossification delay
Parastremmatic dwarfism
Charcot-Marie-Tooth disease, Type 2C
Childhood-onset short-trunk short stature
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
Relatively short spine
Long coccyx
Halberd-shaped pelvis
Hyperplasia of the femoral trochanters
Dumbbell-shaped metaphyses
Absent primary metaphyseal spongiosa
Abnormal metaphyseal vascular invasion
Metatropic Dysplasia Type 1
Scapular muscle atrophy
Shortening of all middle phalanges of the toes
Nonprogressive muscular atrophy
Decreased distal sensory nerve action potential
Osteoarthritis of the small joints of the hand
Severe delay in maturation of wrist bone
Tinea profunda (disorder)
ICHTHYOSIS, LAMELLAR, 5
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
MICROCEPHALY, AMISH TYPE (disorder)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
SPINOCEREBELLAR ATAXIA 38
Neuropathy, Distal Hereditary Motor, Type VIIA
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
Abnormal facial expression
RETINITIS PIGMENTOSA 75
PROSTATE CANCER, HEREDITARY, 2
PARIETAL FORAMINA 2
FRONTONASAL DYSPLASIA 2
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
KALLMANN SYNDROME 4 (disorder)
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
Kuskokwim disease
OSTEOGENESIS IMPERFECTA, TYPE XI
OSTEOGENESIS IMPERFECTA, TYPE XII
Kuskokwim syndrome
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Fixed facial expression
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
Gracile bone dysplasia
Hypoplastic spleen
Abnormality of the medullary cavity of the long bones
Abnormal circulating follicle-stimulating hormone level
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
Ramon Syndrome
Vascular Malformation, Primary Intraosseous
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
LEFT VENTRICULAR NONCOMPACTION 8
CARDIOMYOPATHY, DILATED, 1LL
DYSTONIA 24
Small plaque parapsoriasis
Thyroid Crisis
USHER SYNDROME, TYPE ID
Usher syndrome, type 1D
USH1D/F, CDH23/PCDH15, DIGENIC
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
USHER SYNDROME, TYPE ID/F, DIGENIC
Bilateral Vestibulopathy
PITUITARY ADENOMA 5, MULTIPLE TYPES
3-methylcrotonyl CoA carboxylase 2 deficiency
Congenital malformation syndromes involving limbs
Sirenomelia syndrome
Camptodactyly of 2nd-5th fingers
True anophthalmia
DENTIN DYSPLASIA, TYPE I, WITH EXTREME MICRODONTIA AND MISSHAPEN TEETH
Crescent/chevron-shaped pulp chambers
Obliteration of the pulp chamber
Narrowing of pulp chamber of tooth
Manganese deficiency
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
Choroiditis
Cranial nerve diseases
Stricture of ileum
Granulomatous Mastitis
Catheter infection
Granulomatous uveitis
Granulomatous rosacea
CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO (finding)
Intermittent generalized erythematous papular rash
Nongranulomatous uveitis
YAO SYNDROME
DESBUQUOIS DYSPLASIA 2
Spondyloocular Syndrome, Autosomal Recessive
Hypoplastic distal radial epiphyses
Expanded phalanges with widened medullary cavities
Expanded metacarpals with widened medullary cavities
Expanded metatarsals with widened medullary cavities
Aortic arch calcification
Hypoplasia of the tooth germ
SINGLETON-MERTEN SYNDROME 1
Disseminated phaeohyphomycosis
Candidiasis, Familial, 2
Osteogenesis imperfecta, type VIII
Type 1 collagen overmodification
CONE-ROD DYSTROPHY 10
RETINITIS PIGMENTOSA 35
Hypoplastic left atrium
Agenesis of pulmonary vessels
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
Horizontal gaze palsy
Progressive ophthalmoplegia
Episodic hemolytic anemia
Macrothrombocytopenia-Stomatocytosis, Mediterranean
GALLBLADDER DISEASE 4
Teratogenesis
VESICOURETERAL REFLUX 3
5q35 microduplication syndrome
Dimelia
Acheiropodia
Phocomelia of upper limb
Absent forearm
Laurin-Sandrow Syndrome, Segmental
Absence of tibia with polydactyly
1-5 finger complete cutaneous syndactyly
Absent tibia
Absent metatarsal bone
Aplasia of the tarsal bones
Lower limb peromelia
Aplasia of the phalanges of the hand
Opposable triphalangeal thumb
Absent finger bone of the hand
Cerebellar Degenerations, Primary
Corticostriatal-Spinal Degeneration
PEELING SKIN SYNDROME 3
TOOTH AGENESIS, SELECTIVE, 9
Syndactyly of toes with fusion of bones
Athabaskan severe combined immunodeficiency
SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL
Focal Segmental Glomerulosclerosis 5
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CILIARY DYSKINESIA, PRIMARY, 9
Mucosal infection
Recurrent vulvovaginal candidiasis
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
LEBER CONGENITAL AMAUROSIS 9 (disorder)
Other specified hemorrhagic conditions
Hereditary vascular fragility
Spastic Paraplegia, Optic Atrophy, and Neuropathy
Hyperreflexia proximally
Osteopathia striata
Midclavicular aplasia
Midclavicular hypoplasia
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
Beta-Aminoisobutyric Acid, Urinary Excretion of
IMMUNODEFICIENCY 49
Malignant neoplasm of ascending colon
Posturing
PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
Mental Retardation, X-Linked, Syndromic 14
Pseudohypoaldosteronism, Type IIc
Deafness, Autosomal Recessive 23
USHER SYNDROME, TYPE IG
Usher Syndrome, Type IF
Central Y-shaped metacarpal
JOUBERT SYNDROME 17
Pseudohypoaldosteronism, Type IIb
Spondyloepimetaphyseal Dysplasia, Shohat Type
Central vertebral hypoplasia
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
Arthritis aggravated
ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Interleukin 19 Measurement
Partial abdominal muscle agenesis
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
Fanconi like syndrome
Esophageal Dysphagia
Pontocerebellar Hypoplasia Type 2C
Cerebellar hemisphere hypoplasia
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
Large clumps of pigment irregularly distributed along hair shaft
PSORIASIS 2
Familial pityriasis rubra pilaris
PSORIASIS 2, PUSTULAR
Adenoma, Chromophobe
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57
Thigh hypertrophy
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Fatty Acid Hydroxylase-Associated Neurodegeneration
Mucolipidosis III Gamma
Soft tissue swelling of interphalangeal joints
Progressive alveolar ridge hypertropy
Lower thoracic interpediculate narrowness
Beaking of vertebral bodies T12-L3
Varus deformity of humeral neck
Bullet-shaped phalanges of the hand
Increased serum beta-hexosaminidase
Increased serum iduronate sulfatase
Mucolipidosis III Alpha Beta, Atypical
Mucolipidosis 2
Increased serum iduronate sulfatase activity
Increasing overgrowth of gum ridge
MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM
EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
BEAULIEU-BOYCOTT-INNES SYNDROME
Cataract, autosomal recessive congenital 2
Parathyroid Adenomatosis, Familial Cystic
Parathyroid Adenoma, Familial
CYSTIC PARATHYROID ADENOMA, SOMATIC
BROWN-VIALETTO-VAN LAERE SYNDROME 2
JOUBERT SYNDROME 20
MECKEL SYNDROME, TYPE 11
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
JOUBERT SYNDROME 13
Abnormal pupillary light reflex
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
Segmental peripheral demyelination
Prolonged brainstem auditory evoked potentials
Pericardial lymphangiectasia
VAN MALDERGEM SYNDROME 2
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2
Kohlschutter Tonz syndrome
Kahrizi Syndrome
Microcephaly, Primary Autosomal Recessive, 5
Increased rate of premature chromosome condensation
Abnormality of the mediastinum
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA
Fitzsimmons-Guilbert syndrome
Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Unilateral narrow palpebral fissure
Hypoplastic areola
Unequal size of opening between the eyelids
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
DYSTONIA 26, MYOCLONIC
BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 6/10, DIGENIC
Focal Tonic Seizures
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
Seborrhea-Like Dermatitis with Psoriasiform Elements
Congenital ptosis
PTOSIS, HEREDITARY CONGENITAL 1 (disorder)
Glutaric Aciduria III
Low anorectal malformation
Deafness, Autosomal Dominant 4
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
RETINITIS PIGMENTOSA 72
EXUDATIVE VITREORETINOPATHY 6
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
NEPHRONOPHTHISIS 12
JOUBERT SYNDROME 11
PREIMPLANTATION EMBRYONIC LETHALITY 1
Amino acid transport disorder
Abnormal peristalsis
Decreased intestinal transit time
Congenital shortened small intestine
Short bowel
SPECIFIC LANGUAGE IMPAIRMENT 5
MECKEL SYNDROME, TYPE 8
JOUBERT SYNDROME 24
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56
MYOPATHY, MYOFIBRILLAR, 8
NEPHROTIC SYNDROME, TYPE 9
Severe demyelination of the white matter
L-2-hydroxyglutaric acidemia
RETINITIS PIGMENTOSA 59
Deafness, Autosomal Dominant 28
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Premature Ovarian Failure 2b
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
Pallidal degeneration
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
Eye of the tiger anomaly of globus pallidus
Hyposmolality syndrome
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
Renal dysplasia diffuse cystic
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
Bifid Nose With Or Without Anorectal And Renal Anomalies
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
BARDET-BIEDL SYNDROME 20
SENIOR-LOKEN SYNDROME 6
JOUBERT SYNDROME 5
LEBER CONGENITAL AMAUROSIS 10 (disorder)
MECKEL SYNDROME, TYPE 4
BARDET-BIEDL SYNDROME 14 (disorder)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
Caudal dysplasia syndrome
Abnormality of the wing of the ilium
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
Posterior cortical cataract
Spastic paraplegia 11, autosomal recessive
AMYOTROPHIC LATERAL SCLEROSIS 5
Nakamura Osame syndrome
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
JOUBERT SYNDROME 30
SPERMATOGENIC FAILURE 19
SKRABAN-DEARDORFF SYNDROME
Bile acid synthesis defect, congenital, 1
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY
MENTAL RETARDATION, X-LINKED 103
Nephroblastoma, favorable histology
Colorectal Intraepithelial Neoplasia
Odontoonychodermal dysplasia
Facial telangiectasia
Odonto-onycho-dermal dysplasia
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
Succedaneous Teeth, Agenesis Of
SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)
Narrow nail
Peg-shaped maxillary lateral incisors
Stenosis of bile duct
Cholestatic pruritus
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
Abnormality of the caudate nucleus
DEAFNESS, AUTOSOMAL DOMINANT 72
THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
Pontocerebellar Hypoplasia Type 2B
MECKEL SYNDROME, TYPE 10
JOUBERT SYNDROME 34
Dehydroepiandrosterone sulfate measurement (procedure)
BAINBRIDGE-ROPERS SYNDROME
SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder)
Split-Hand-Foot Malformation With Long Bone Deficiency 1
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Aortic tortuosity
EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE
Disorder of complement
Triceps weakness
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
Metastatic Urothelial Carcinoma
MEIER-GORLIN SYNDROME 4
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5
MEGALOBLASTIC ANEMIA 1, NORWEGIAN TYPE
ATAXIA, SENSORY, AUTOSOMAL DOMINANT
Gait instability, worse in the dark
Hemisacrum
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
Dermatophilosis due to Dermatophilus congolensis
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Short ear
Flattened femoral head
SMITH-MCCORT DYSPLASIA 2
Orofaciodigital syndrome 5
HYDROLETHALUS SYNDROME 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55
CILIARY DYSKINESIA, PRIMARY, 35
CILIARY DYSKINESIA, PRIMARY, 16
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING
NANOPHTHALMOS 2 (disorder)
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Scleral thickening
Foveoschisis
Nanophthalmia
SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
Multifocal cerebral white matter abnormalities
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
Ageusia
CILIARY DYSKINESIA, PRIMARY, 32
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
Globozoospermia
RUIJS-AALFS SYNDROME
ALBINISM, OCULOCUTANEOUS, TYPE VII
Corneal edema
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE
FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)
FEBRILE CONVULSIONS, FAMILIAL, 4
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Psychosis, childhood onset
HERMANSKY-PUDLAK SYNDROME 7
RETINITIS PIGMENTOSA 55
CONE-ROD DYSTROPHY AND HEARING LOSS
RETINITIS PIGMENTOSA 28
MYOPIA 21, AUTOSOMAL DOMINANT
Opiate Withdrawal Syndrome
Early balding
DEAFNESS, AUTOSOMAL RECESSIVE 88
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
Deafness, Cochlear, with Myopia and Intellectual Impairment
DEAFNESS AND MYOPIA
SPERMATOGENIC FAILURE 14
OPTIC ATROPHY 7 (disorder)
MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME
Hypoplasia of the prostate
Scheuermann-like vertebral changes
Shortening of all distal phalanges of the fingers
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
MECKEL SYNDROME 13
JOUBERT SYNDROME 29
OROFACIODIGITAL SYNDROME XVI
Copper accumulation in liver
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
PITUITARY HORMONE DEFICIENCY, COMBINED, 4
Skeletal muscle steatosis
Obstetric disorders
IMMUNODEFICIENCY 11
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
Thymic Adenosquamous Carcinoma
Thymic Mucoepidermoid Carcinoma
Intraosseous mucoepidermoid carcinoma
Hemangiopericytoma, benign
Hemangiopericytoma, Malignant
FANCONI ANEMIA, COMPLEMENTATION GROUP P
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT
SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
MENOPAUSE, NATURAL, AGE AT, QUANTITATIVE TRAIT LOCUS 3
PREMATURE OVARIAN FAILURE 10
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
Infantile Diarrhea
FRAXF syndrome
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
PRECOCIOUS PUBERTY, CENTRAL, 1
HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA
Adult Acute Megakaryoblastic Leukemia
Atrophy of kidney
NEPHRONOPHTHISIS 7
CARDIOMYOPATHY, DILATED, 1KK
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
Unilateral vertebral artery hypoplasia
HYPOMYELINATION AND CONGENITAL CATARACT
Truncal titubation
Cerebral white matter atrophy
Methylmalonyl-CoA Epimerase Deficiency
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
46, XY Sex Reversal 5
Carnosinemia
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
CANDIDIASIS, FAMILIAL, 9
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO
EPILEPSY, PROGRESSIVE MYOCLONIC, 9
Cone-Rod Dystrophy 11
Macular Degeneration, Age-Related, 6
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
MYOPATHY, TUBULAR AGGREGATE, 2
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
Severe hydrocephalus
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
MORBID OBESITY AND SPERMATOGENIC FAILURE
EEG with multifocal slow activity
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
Hydroxylysinuria
PHOSPHOHYDROXYLYSINURIA
CEREBELLAR ATAXIA, CAYMAN TYPE
STEEL SYNDROME
Interleukin 7 Measurement
Bromhidrosis
EAR WAX, WET/DRY
Childhood disintegrative disorder
MYASTHENIC SYNDROME, CONGENITAL, 14
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
Sarcoma - category (morphologic abnormality)
SCHIZOPHRENIA 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
CILIARY DYSKINESIA, PRIMARY, 27
Urticaria medicamentosa
DEAFNESS, AUTOSOMAL RECESSIVE 70
Productive cough
CILIARY DYSKINESIA, PRIMARY, 24
HERMANSKY-PUDLAK SYNDROME 4
SPERMATOGENIC FAILURE 17
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
Nystagmus 1, congenital, X- linked
NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder)
AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
Charcot-Marie-Tooth disease, axonal, Type 2G
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
Chronic allergic conjunctivitis
Lung disease with systemic sclerosis
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB
JOUBERT SYNDROME 6
NEPHRONOPHTHISIS 11
Marden Walker like syndrome
Distal ulnar hypoplasia
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
Cardiomyopathy, Dilated, 1CC
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
Familial Cold Autoinflammatory Syndrome 2
Nevus comedonicus
ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
LETHAL CONGENITAL CONTRACTURE SYNDROME 10
CONE-ROD DYSTROPHY 15
RETINITIS PIGMENTOSA 65
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Seronegative arthritis
BARDET-BIEDL SYNDROME 18
3-METHYLGLUTACONIC ACIDURIA, TYPE IX
MITOCHONDRIAL DNA DEPLETION SYNDROME 11
CILIARY DYSKINESIA, PRIMARY, 21
RETINITIS PIGMENTOSA 77
Ataxia, Spastic, 3, Autosomal Recessive
Mild hearing impairment
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
PATENT DUCTUS ARTERIOSUS 3
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
CILIARY DYSKINESIA, PRIMARY, 20
SPERMATOGENIC FAILURE 15
PREMATURE OVARIAN FAILURE 12
Cortisol Measurement
Diabetes in adolescence
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
RETINAL CONE DYSTROPHY 4
Ventral septal defect (VSD)
Small basal ganglia
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
AMELOGENESIS IMPERFECTA, TYPE IJ
Pulmonary cryptococcosis
DYSTONIA 13, TORSION
Communication Disorders, Developmental
Ulnar-Fibular Ray Defect and Brachydactyly
Abnormal multifocal electroretinogram
Bartonella Infections
JOUBERT SYNDROME 12/15, DIGENIC
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18
CANDIDIASIS, FAMILIAL, 6
response to gemcitabine
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
HYPOTRICHOSIS 13
Primary hyperoxaluria type III
GALLOWAY-MOWAT SYNDROME 4
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
Abnormality of the duodenum
Folate-responsive megaloblastic anemia
Temtamy syndrome
Fazio-Londe Syndrome
Progressive bulbar palsy
Childhood Progressive Bulbar Palsy
Cranial nerve motor loss
Progressive inspiratory stridor
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
Congenital pontocerebellar hypoplasia type 7
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
Mooren's ulcer
Keratitis Fugax Hereditaria
Gout attack
Thyroid Carcinoma, Nonmedullary 1
RETINITIS PIGMENTOSA 36
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
CILIARY DYSKINESIA, PRIMARY, 30
Increased urinary urate
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
Azoospermia, Nonobstructive
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial
RETINITIS PIGMENTOSA 29 (disorder)
Spermatogenic Failure 7
Deafness, Sensorineural, And Male Infertility
Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 36
Congenital ectodermal dysplasia of face
Focal facial dermal dysplasia
Aged leonine appearance
Multiple rows of eyelashes
Abnormality of male external genitalia
Spastic Paraplegia 33, Autosomal Dominant
Interrupted inferior vena cava with azygous continuation
Hypoplasia of right ventricle
HETEROTAXY, VISCERAL, 7, AUTOSOMAL
Gastrointestinal dysfunction
PARKINSON DISEASE 8 (disorder)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
WOOLLY HAIR, AUTOSOMAL DOMINANT
HYPOTRICHOSIS 3
ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
MYOPATHY, DISTAL, 5
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
BARDET-BIEDL SYNDROME 8
RETINITIS PIGMENTOSA 51
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
Limitation of movement at ankles
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
CILIARY DYSKINESIA, PRIMARY, 13
Absent inner dynein arms
MYOPATHY, CENTRONUCLEAR, 4
SPERMATOGENIC FAILURE 10
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44
Bifid distal phalanx of the thumb
Radioulnar dislocation
Proximal fibular overgrowth
Phalangeal dislocation
Medial deviation of the foot
DESBUQUOIS DYSPLASIA, KIM VARIANT
DESBUQUOIS DYSPLASIA 1
Partial duplication of the distal phalanx of the hallux
EPIPHYSEAL DYSPLASIA, MULTIPLE, 7
Aplasia of the inferior half of the cerebellar vermis
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
DEAFNESS, AUTOSOMAL RECESSIVE 15
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Hypoplastic sweat glands
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
Delayed proximal femoral epiphyseal ossification
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES
Abnormal bone ossification
Abnormal bone maturation
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY
Cerebellar edema
Retinal dystrophy with early macular involvement
WARBURG MICRO SYNDROME 4
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
Visceromegaly
Renal hamartoma
Nephroblastomatosis
Distal ileal atresia
Abnormality of pancreas morphology
BARDET-BIEDL SYNDROME 5
PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO
RETINITIS PIGMENTOSA 58
Congenital lip pits
Microcytic normochromic anemia
NEMALINE MYOPATHY 8
Urocanase deficiency
Intermittent ataxia
Abnormality of histidine metabolism
Neoplasm of skin with adnexal differentiation
D-Glyceric aciduria
D-glycericacidemia
Deficiency of glycerate kinase
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
Complete spermatogenic arrest
Testicular cancer metastatic
OBESITY, VARIATION IN
BONE MARROW FAILURE SYNDROME 3
Glaucoma 1, Open Angle, G
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
Premature Ovarian Failure 5
Glaucomatous visual field defect
GLAUCOMA 1, OPEN ANGLE, F (disorder)
Increased cup-to-disc ratio
Tricho-thiodystrophy disorder
Trichorrhexis nodosa syndrome
Amish Brittle Hair Brain Syndrome
Trichothiodystrophy, Nonphotosensitive 1
SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
RETINITIS PIGMENTOSA 73
CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
Osteopathia striata cranial sclerosis
Paranasal sinus hypoplasia
Hypotrophic paranasal sinus
Decreased pneumatization of paranasal sinus
Atelectasis of paranasal sinus
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
SPERMATOGENIC FAILURE 16
Hypomagnesmic tetany
Idiopathic atrophic hypothyroidism
Infection by Yersinia enterocolitica
Thyrotoxicosis due to Graves' disease
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder)
Calcium nephrolithiasis
OTITIS MEDIA, SUSCEPTIBILITY TO (finding)
Krause-Kivlin syndrome
Bilobate gallbladder
Constricted helix type IV
Snail ear
Shell ear
Severe cupped ear, type III
Mini ear
Ear, grade II dysplasia
Microtia, second degree
RETINITIS PIGMENTOSA 53
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
Scapulohumeral synostosis
Delayed ossification of pubic rami
SPINOCEREBELLAR ATAXIA 11
Foveal Hypoplasia and Anterior Segment Dysgenesis
FOVEAL HYPOPLASIA 2
FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS
Deafness, Autosomal Recessive 22
CATARACT 43
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
Immune Hydrops Fetalis
Thyroid lymphangiectasia
Pleural lymphangiectasia
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
HYPOTRICHOSIS 6
Venous embolism
Hemifacial hypoplasia
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4
HEMOCHROMATOSIS, TYPE 2A
Inflammatory Bowel Disease 17
Manz syndrome
Hypomagnesemia 5, Renal, with Ocular Involvement
Meier Blumberg Imahorn syndrome
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
Filippi syndrome
2-4 toe syndactyly
Cirrhosis and chronic liver disease
CILIARY DYSKINESIA, PRIMARY, 14
Chronic atrial and intestinal dysrhythmia
Hereditary benign telangiectasia (disorder)
Deafness, Autosomal Dominant 44
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4
IMINOGLYCINURIA, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
JOUBERT SYNDROME 31
DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
Frontal Encephalocele
Premature separation of centromeric heterochromatin
Tetraphocomelia
Mesomelic arm shortening
CONE-ROD DYSTROPHY 16
RETINITIS PIGMENTOSA 64
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
Hyperautofluorescent macular lesion
BARDET-BIEDL SYNDROME 21
Beaten bronze macular sheen
Aplasia/Hypoplasia of the tongue
Anus Prolapse
CHROMOSOME 9p DELETION SYNDROME
Marles Greenberg Persaud syndrome
Bifid Nose, Autosomal Dominant
TRIGONOCEPHALY 2
Bifid Nose, Autosomal Recessive
Abnormality of the 5th toe
LISSENCEPHALY 8
Blood viscosity measurement
DEAFNESS, AUTOSOMAL DOMINANT 16
Deafness, Autosomal Recessive 16
CILIARY DYSKINESIA, PRIMARY, 25
Hyperammonemia, type III
Headache Disorders, Primary
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2
Internally rotated shoulders
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT
DEAFNESS, AUTOSOMAL RECESSIVE 76
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
PREMATURE OVARIAN FAILURE 9
Pica Disease
Increased sensitivity to ionizing radiation
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
BARDET-BIEDL SYNDROME 12
Adenosylcobalamin synthesis defect
Methylmalonic aciduria cblA type
LEBER CONGENITAL AMAUROSIS 5
Indeterminate atrial arrangement
Unbalanced atrioventricular canal defect
HETEROTAXY, VISCERAL, 8, AUTOSOMAL
Chief cell adenocarcinoma
Abnormal liver lobulation
Diaphanospondylodysostosis
Absent in utero rib ossification
Absent in utero ossification of vertebral bodies
Unossified sacrum
Ischio-vertebral syndrome
Retinal Cone Dystrophy 3B
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
RUSSELL-SILVER SYNDROME, X-LINKED
Apraxia, Ideomotor
Proud Syndrome
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
Lissencephaly, X-Linked, 2
Hydranencephaly and Abnormal Genitalia
Index myopia
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
Hyperechogenic pancreas
Delayed peripheral myelination
Factor X activation deficiency
COFFIN-SIRIS SYNDROME 6
Midline skin dimples over anterior/posterior fontanelles
OOCYTE MATURATION DEFECT 4
Combined Malonic and Methylmalonic Aciduria
POLYCYSTIC KIDNEY DISEASE 5
MYASTHENIC SYNDROME, CONGENITAL, 15
Resistin Measurement
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
Speckled corneal dystrophy
WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS
WH/HT
JOUBERT SYNDROME 8 (disorder)
Leg, Absence Deformity of, with Congenital Cataract
Tension Pneumothorax
Receptive language delay
Familial multiple trichodiscomas
Familial spontaneous pneumothorax
MYOPIA 22, AUTOSOMAL DOMINANT
Radius Fractures
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
Pseudodementia
Huntington Disease-Like Syndrome
NEPHRONOPHTHISIS 16
X-linked myopathy with excessive autophagy
Calf muscle weakness
Diaphyseal cortical sclerosis
Atrophy of quadriceps femoris muscle
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9
Myelocerebellar Disorder
Abnormality of macrophages
Preeclampsia Eclampsia 4
Congenital absence of diaphragm
Gingival cleft
Adrenal gland dysgenesis
Proximal tibial hypoplasia
SENIOR-LOKEN SYNDROME 4
Senior-Loken Syndrome 3
Skin-Hair-Eye Pigmentation, Variation In, 10
DEAFNESS, AUTOSOMAL RECESSIVE 63
Retinal Nonattachment And Falciform Detachment
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Macrocephaly, benign familial
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION
Central Nervous System Germinoma
CILIARY DYSKINESIA, PRIMARY, 12
Abnormal central microtubular pair morphology of respiratory motile cilia
CATARACT 46, JUVENILE-ONSET
Cataract Hutterite type
Cerebrovascular Trauma
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
Jejunal Atresia
Mitchell-Riley Syndrome
Deafness, Autosomal Recessive 67
Sclerosing rhabdomyosarcoma
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
Myopathy, congenital nonprogressive with Moebius and Robin sequences
Multiple skeletal anomalies
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
DEAFNESS, AUTOSOMAL RECESSIVE 74
OVARIAN DYSGENESIS 4
SPERMATOGENIC FAILURE 22
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
Ectopic pancreas
Aplasia/Hypoplasia of the pancreas
Cerebellar agenesis
Ceroid Lipofuscinosis, Neuronal, 7
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel
Soft teeth
Soft tooth enamel
Large nostrils
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
DEAFNESS, AUTOSOMAL RECESSIVE 6
NEPHRONOPHTHISIS 4
Delusion of persecution
Chronic hepatitis C genotype 1a
Martin-Probst Deafness-Mental Retardation Syndrome
CONE-ROD DYSTROPHY 20
Cardiomyopathy, Dilated, 1DD
Familial Wilms tumor 2
DEAFNESS, AUTOSOMAL RECESSIVE 84B
MYOPIA 24, AUTOSOMAL DOMINANT
SPERMATOGENIC FAILURE 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
Skin-Hair-Eye Pigmentation, Variation In, 4
Oculocutaneous albinism type 6
Abnormal foveal morphology on macular OCT
Pontocerebellar Hypoplasia Type 2A
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
Olivopontocerebellar hypoplasia, fetal-onset
Chromosome 17q21.31 Deletion Syndrome
Positional foot deformity
NEPHRONOPHTHISIS 9
RENAL-HEPATIC-PANCREATIC DYSPLASIA 2
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25
Lipodystrophy, Congenital Generalized, Type 4
PORETTI-BOLTSHAUSER SYNDROME
Underdeveloped antitragus
Abnormality of the scalp
Congenital failure of fusion
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)
Microcephaly, Primary Autosomal Recessive, 2
Palmoplantar Hyperkeratosis And True Hermaphroditism
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
Encephalopathy Adverse Event
Profound static encephalopathy
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
AUTISM, SUSCEPTIBILITY TO, 16
ADAMS-OLIVER SYNDROME 4
Generalized progressive retinal atrophy
Sulfatidosis, Juvenile, Austin Type
Rapid neurologic deterioration
Marginal corneal dystrophy
Congenital myasthenic syndrome ib
RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1
Ter Haar syndrome
Borrone Di Rocco Crovato syndrome
Prominent coccyx
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
Progesterone measurement
Dilatation of the abdominal aorta
SECKEL SYNDROME 10
Cystic Kidney Disease with Ventriculomegaly
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
Deafness, Autosomal Recessive 79
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
SPERMATOGENIC FAILURE 11
SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder)
HYPERLIPOPROTEINEMIA, TYPE ID
Spinocerebellar ataxia 25
Vitamin A measurement
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
MICROPHTHALMIA, ISOLATED 2
Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Cataracts, and Iris Abnormalities
Microsaccadic pursuit
N-ACETYLASPARTATE DEFICIENCY
Neutral hyperaminoaciduria
Chlamydia trachomatis infection
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
STING-associated vasculopathy with onset in infancy
Mast cell abnormality
FOCAL FACIAL DERMAL DYSPLASIA 4
Abnormality of epidermal morphology
Abnormality of buccal mucosa
SPERMATOGENIC FAILURE 12
Sperm tail anomaly
DEAFNESS, AUTOSOMAL RECESSIVE 18B
Cryptotia
FRASER SYNDROME 2
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
BLEEDING DISORDER, PLATELET-TYPE, 20
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
SPINOCEREBELLAR ATAXIA 35
Abnormality of the orbital region
Spinocerebellar ataxia type 35
Premature Ovarian Failure 6
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
Inflammatory Bowel Disease 19
Congenital Transposition
CILIARY DYSKINESIA, PRIMARY, 11
OOCYTE MATURATION DEFECT 2
Polymicrogyria, Asymmetric
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
Frontoparietal cortical dysplasia
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
CILIARY DYSKINESIA, PRIMARY, 2 (disorder)
PREIMPLANTATION EMBRYONIC LETHALITY 2
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
CILIARY DYSKINESIA, PRIMARY, 34
DEAFNESS, AUTOSOMAL RECESSIVE 84A
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
JOUBERT SYNDROME 12
Hydrolethalus Syndrome 2
Retinitis Pigmentosa 26
DEAFNESS, AUTOSOMAL RECESSIVE 61
MYASTHENIC SYNDROME, CONGENITAL, 8
Mesenchymal hamartoma of liver
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
Abdominal pain in children
Spastic paraplegia 25, autosomal recessive
Cataract, Juvenile, With Microcornea And Glucosuria
CATARACT 47
MACULAR DEGENERATION, AGE-RELATED, 8
Anterior radial head dislocation
Osteogenesis imperfecta, type 5
Hyperplastic callus formation
ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
Congenital exfoliative erythroderma
CILIARY DYSKINESIA, PRIMARY, 17
DEAFNESS, AUTOSOMAL DOMINANT 4B
HERMANSKY-PUDLAK SYNDROME 8
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4
RETINITIS PIGMENTOSA 54
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
DEAFNESS, AUTOSOMAL RECESSIVE 25
Thyroid Dyshormonogenesis 4
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA
MENTAL RETARDATION, X-LINKED 105
Nemaline myopathy 6
MICROPHTHALMIA, ISOLATED 4 (disorder)
LEBER CONGENITAL AMAUROSIS 17
Cervicomedullary schisis
Infantile gastroenteritis
SPINAL MUSCULAR ATROPHY, JOKELA TYPE
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
response to antibiotic
OVARIAN DYSGENESIS 5
Monomorphic Post-Transplant Lymphoproliferative Disorder
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
Hepatic schistosomiasis
Gastrointestinal stromal tumor, benign
Argentaffinoma
Alcohol-Related Hepatocellular Carcinoma
Acute pulmonary embolism
Chondrosarcoma metastatic
Pleomorphic Rhabdomyosarcoma
Asthma-chronic obstructive pulmonary disease overlap syndrome
Postpartum psychosis
Abnormal inflammatory response
Advanced Head and Neck Squamous Cell Carcinoma
Necrolysis epidermal
Eye Injuries
Late insomnia
Grade 2 Colorectal Adenocarcinoma
Stage I Cutaneous Melanoma AJCC v6
Spinal stenosis of lumbar region
Stage II Rectal Cancer
progressive anemia
Stage II Rectal Cancer AJCC v7
Prolapsed lumbar disc
Stage I Colon Carcinoma
Asbestos pleurisy
DEAFNESS, AUTOSOMAL DOMINANT 50
SPINOCEREBELLAR ATAXIA 20
FEINGOLD SYNDROME 2
SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder)
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
Myoglobin measurement
response to antipsychotic drug
C3HEX, ABILITY TO SMELL
LYMPHANGIECTASIA, PULMONARY, CONGENITAL
Granuloma, Lethal Midline
Olecranon bursitis
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3
DEAFNESS, AUTOSOMAL RECESSIVE 59
SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT
Wittwer syndrome
Abnormal extension
DEAFNESS, AUTOSOMAL RECESSIVE 101
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
Vascular Dementia, Acute Onset
Arteriosclerotic Dementia
Congenital cystic eyeball
MICROPHTHALMIA, ISOLATED 6
Drug-induced immune thrombocytopenia
Berry Aneurysm
Aneurysm, Middle Cerebral Artery
Aneurysm, Anterior Communicating Artery
Aneurysm, Posterior Cerebral Artery
Aneurysm, Anterior Cerebral Artery
Aneurysm, Basilar Artery
Aneurysm, Posterior Communicating Artery
Giant Intracranial Aneurysm
Mycotic Aneurysm, Intracranial
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Antibiotic resistant infection
SPASTIC PARAPLEGIA 34, X-LINKED (disorder)
Hemimelia
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Symphalangism affecting the phalanges of the hallux
Camptosynpolydactyly, Complex
Femur bifid with monodactylous ectrodactyly
Pancreatic acinar atrophy
GLAUCOMA 1, OPEN ANGLE, M (disorder)
Intracranial Germinoma
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder)
Neonatal chlamydial conjunctivitis
Carcinoid tumor of rectum
LETHAL CONGENITAL CONTRACTURE SYNDROME 6
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
Cleft vertebral arch
Absent knee epiphyses
Bifid femur
Abnormality of the tragus
Microcephalic osteodysplastic primordial dwarfism types I and III
Alzheimer Disease 14
Restless legs syndrome 2
DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder)
Convulsions, Benign Familial Infantile, 4
Infant, Extremely Low Birth Weight
Dyschromatosis Universalis Hereditaria 2
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 1
Spinocerebellar ataxia 30
SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT
nipple discharge
walking pain
Irritable bowel syndrome characterized by constipation
Baraitser Brett Piesowicz syndrome
Sepsis due to fungus
Rheumatoid lung disease
Essential cryoglobulinemia
SPINOCEREBELLAR ATAXIA 32
DYSTONIA 21
Oral herpes simplex infection
Interleukin 9 Measurement
Related process
No function
Activation of caspases cascade
adipocyte differentiation
Akt pathway
Angiogenesis
anti-cell proliferation
Apoptosis
Bone regeneration
brain development
carbohydrate metabolism
Cardiogenesis
Cell cycle related
cell death
Cell differentiation
cell division
cell fate determination
cell motility
cell proliferation
Chemosensitivity of tumor cells
chemotaxis
cholesterol biosynthesis
chromatin remodeling
circadian clock
circadian rhythm
DNA repair
Epithelial-mesenchymal transition
Folliculogenesis
glucose metabolism
Granulopoiesis
HCV infection
heart development
hematopoiesis
HIV latency
Hormones regulation
Human embryonic stem cell (hESC) regulation
Immune response
immune system
Inflammation
lipid metabolism
miRNA tumor suppressors
Muscle development
onco-miRNAs
smooth muscle cell fate
Related tissue
No tissue
Adipose - Subcutaneous
Adipose - Visceral (Omentum)
Adrenal Gland
Artery - Aorta
Artery - Coronary
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex (BA24)
Brain - Caudate (basal ganglia)
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex (BA9)
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens (basal ganglia)
Brain - Putamen (basal ganglia)
Brain - Spinal cord (cervical c-1)
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - EBV-transformed lymphocytes
Cells - Transformed fibroblasts
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed (Suprapubic)
Skin - Sun Exposed (Lower leg)
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood
Evidence
Experimental
Predicted
Both
Protein-Protein/Gene-Gene interaction cutoff
Randomization Method
conserved
non-conserved
Step 3: Go!
Start processing
Step 4: Review result sets
(a) Created networks
Disease-specific network
Disease & Process-specific network
Process-specific network
Tissue & Process-specific network
Tissue-specific network
Disease & Tissue-specific network
Full interaction network
(b) Interaction types
Log