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TFmiR
disease-specific miRNA/transcription factor co-regulatory networks
v1.2
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mRNA
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Step 2: Configuration
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Related disease
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17-Hydroxysteroid Dehydrogenase Deficiency
18-Hydroxylase deficiency
2-Methylbutyryl-Coa Dehydrogenase Deficiency
22q11 Deletion Syndrome
3 beta-Hydroxysteroid dehydrogenase deficiency
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Methylglutaconic Aciduria, Type I
3-Methylglutaconic Aciduria, Type V
3-hydroxyacyl-coa dehydrogenase deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency
46, XX Disorders of Sex Development
46, XY Disorders of Sex Development
46, XY Sex Reversal 5
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY SEX REVERSAL 6
46,XY Sex Reversal 3
46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
5-hydroxytryptamine (serotonin) oxygenase regulator
5q- syndrome
6-pyruvoyl-tetrahydropterin synthase deficiency
ABCD syndrome
ACETABULAR DYSPLASIA
ACRODYSOSTOSIS WITH HORMONE RESISTANCE
ACTH Deficiency, Isolated
ACTH Syndrome, Ectopic
ACTH-Secreting Pituitary Adenoma
ADENOSINE MONOPHOSPHATE DEAMINASE 1
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
ADRENOCORTICAL INSUFFICIENCY
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICARDI-GOUTIERES SYNDROME 2
AIDS Dementia Complex
AIDS-Related Opportunistic Infections
AIDS-related Kaposi sarcoma
ALAGILLE SYNDROME 1
ALAGILLE SYNDROME 2
ALBUMIN
ALCOHOL SENSITIVITY, ACUTE
ALOPECIA UNIVERSALIS CONGENITA
ALPHA-2-PLASMIN INHIBITOR DEFICIENCY
ALPORT SYNDROME, AUTOSOMAL DOMINANT
ALPORT SYNDROME, AUTOSOMAL RECESSIVE
ALPORT SYNDROME, X-LINKED
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 2
AMINOADIPIC ACIDURIA
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2
AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 12
AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV
ANGIOEDEMA, HEREDITARY, TYPE I
ANHAPTOGLOBINEMIA
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
AORTIC ANEURYSM, FAMILIAL THORACIC 7
APOLIPOPROTEIN B
APOLIPOPROTEIN C-II DEFICIENCY
APOLIPOPROTEIN E
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED
ARTHROGRYPOSIS, DISTAL, TYPE 1B
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2
ASPHYXIATING THORACIC DYSTROPHY 4
ASPHYXIATING THORACIC DYSTROPHY 5
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 3
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 4
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 6
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7
ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 8
ATELOSTEOGENESIS, TYPE III
ATP SYNTHASE 6
ATP SYNTHASE 8
ATR-X syndrome
ATRIAL FIBRILLATION, FAMILIAL, 10
ATRIAL FIBRILLATION, FAMILIAL, 11
ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 9
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 9
ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 4
ATRIOVENTRICULAR SEPTAL DEFECT 5
ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME
Aagenaes syndrome
Aarskog syndrome
Aase syndrome
Abdominal Pain
Abdominal obesity metabolic syndrome
Aberrant Crypt Foci
Abetalipoproteinemia
Abidi X-linked mental retardation syndrome
Abnormalities, Drug-Induced
Abnormalities, Multiple
Abortion, Habitual
Abortion, Spontaneous
Abortion, Threatened
Abruptio Placentae
Absence of Tibia
Absent corpus callosum cataract immunodeficiency
Absent patella
Absent radii and thrombocytopenia
Acatalasia
Achalasia Addisonianism Alacrimia syndrome
Acheiropodia
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondroplasia
Achromatopsia 2
Achromatopsia 3
Acidemia, isovaleric
Acidosis
Acidosis, Lactic
Acidosis, Renal Tubular
Acquired Immunodeficiency Syndrome
Acquired angioedema
Acro-Osteolysis
Acrocallosal Syndrome
Acrocapitofemoral Dysplasia
Acrocephalopolysyndactyly Type II
Acrocephalosyndactylia
Acrodermatitis
Acrodermatitis enteropathica
Acroerythrokeratoderma
Acrofacial dysostosis, Nager type
Acrokeratosis verruciformis of Hopf
Acromegaloid features, overgrowth, cleft palate, and hernia
Acromegaly
Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia, Maroteaux type
Acromicric dysplasia
Acropectoral syndrome
Acropectorovertebral Dysplasia, F-Form
Acth-Independent Macronodular Adrenal Hyperplasia
Activated Protein C Resistance
Acute Coronary Syndrome
Acute Kidney Injury
Acute Lung Injury
Acute neuronopathic Gaucher's disease
Acute-Phase Reaction
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Adams Oliver syndrome
Addison Disease
Adducted thumb and clubfoot syndrome
Adenocarcinoma
Adenocarcinoma Of Esophagus
Adenocarcinoma of lung
Adenocarcinoma, Clear Cell
Adenoma
Adenoma, Liver Cell
Adenoma, Oxyphilic
Adenomatous Polyposis Coli
Adenomatous Polyps
Adenosine Triphosphate, Elevated, Of Erythrocytes
Adenosine monophosphate deaminase deficiency
Adenoviridae Infections
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Adenylosuccinate lyase deficiency
Adjustment Disorders
Adrenal Cortex Diseases
Adrenal Cortex Neoplasms
Adrenal Gland Diseases
Adrenal Gland Neoplasms
Adrenal Hyperplasia, Congenital
Adrenal Insufficiency
Adrenal hyperplasia 2
Adrenal hyperplasia, congenital, type 5
Adrenocortical Adenoma
Adrenocortical Carcinoma
Adrenocortical Carcinoma, Hereditary
Adrenoleukodystrophy
Adult GM1 gangliosidosis
Adult-onset citrullinemia type 2
Advanced Sleep-Phase Syndrome, Familial
Afibrinogenemia
Afibrinogenemia congenital
Agammaglobulinemia
Agammaglobulinemia, X-linked, type 2
Age-Related Hearing Impairment 1
Aggressive Periodontitis
Aging
Aging, Premature
Agranulocytosis
Agricultural Workers' Diseases
Aicardi Syndrome
Aicardi-Goutieres Syndrome 3
Aicardi-Goutieres Syndrome 4
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome 5
Airway Obstruction
Al Awadi syndrome
Alagille Syndrome
Aland Island Eye Disease
Albinism deafness syndrome
Albinism ocular late onset sensorineural deafness
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism, Oculocutaneous
Albright's hereditary osteodystrophy
Albuminuria
Alcohol Withdrawal Seizures
Alcoholic Intoxication
Alcoholism
Alexander Disease
Alkalosis
Alkaptonuria
Allan-Herndon-Dudley syndrome
Allanson Pantzar McLeod syndrome
Allergic Rhinitis
Alopecia
Alopecia Areata
Alopecia universalis
Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 3
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
Alopecia-Mental Retardation Syndrome 1
Alopecia-Mental Retardation Syndrome 2
Alpha-B Crystallinopathy
Alpha-Methylacyl-CoA Racemase Deficiency
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-ketoglutarate dehydrogenase deficiency
Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport syndrome, recessive type
Alstrom Syndrome
Alternating hemiplegia of childhood
Alveolar Bone Loss
Alveolar capillary dysplasia
Alveolitis, Extrinsic Allergic
Alzheimer Disease
Alzheimer Disease 10
Alzheimer Disease 11
Alzheimer Disease 12
Alzheimer Disease 13
Alzheimer Disease 14
Alzheimer Disease 15
Alzheimer Disease 16
Alzheimer Disease 5
Alzheimer Disease 6
Alzheimer Disease 7
Alzheimer Disease 8
Alzheimer Disease 9
Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia
Alzheimer disease type 2
Alzheimer disease type 4
Alzheimer disease, familial
Alzheimer disease, familial, type 3
Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 2
Amaurosis congenita of Leber, type 5
Amaurosis congenita of Leber, type 9
Ambras syndrome
Amelogenesis Imperfecta
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type III
Amelogenesis Imperfecta, Type IV
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta pigmented hypomaturation type
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
Amenorrhea
Amino Acid Metabolism, Inborn Errors
Aminoacylase 1 deficiency
Amish Brittle Hair Brain Syndrome
Amish Infantile Epilepsy Syndrome
Amish lethal microcephaly
Amnesia
Amnesia, Retrograde
Amphetamine-Related Disorders
Amyloid Neuropathies, Familial
Amyloidosis
Amyloidosis IX
Amyloidosis, Familial
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis, familial visceral
Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 10
Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 5
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive
Amyotrophic Lateral Sclerosis 7
Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9
Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic lateral sclerosis 1
Anal Canal Carcinoma
Anal sphincter dysplasia
Anaphylaxis
Anaplasia
Anauxetic dysplasia
Andersen Syndrome
Androgen-Insensitivity Syndrome
Anemia
Anemia, Aplastic
Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 3
Anemia, Dyserythropoietic, Congenital
Anemia, Hemolytic
Anemia, Hemolytic, Autoimmune
Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Hypochromic Microcytic, With Iron Overload
Anemia, Hypoplastic, Congenital
Anemia, Iron-Deficiency
Anemia, Megaloblastic
Anemia, Neonatal
Anemia, Refractory
Anemia, Sickle Cell
Anemia, Sideroblastic
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
Anemia, hypochromic microcytic
Anemia, sideroblastic spinocerebellar ataxia
Anencephaly
Aneuploidy
Aneurysm
Aneurysm, Dissecting
Aneurysm, Intracranial Berry, 1
Aneurysm, Intracranial Berry, 10
Aneurysm, Intracranial Berry, 3
Aneurysm, Intracranial Berry, 4
Aneurysm, Intracranial Berry, 6
Aneurysm, Intracranial Berry, 7
Aneurysm, Intracranial Berry, 8
Aneurysm, Intracranial Berry, 9
Aneurysm, intracranial berry, 2
Angelman Syndrome
Angina Pectoris
Angina, Stable
Angina, Unstable
Angioedema
Angioedemas, Hereditary
Angiokeratoma
Angioma serpiginosum, X-linked
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Aniridia
Aniridia cerebellar ataxia mental deficiency
Aniridia, type 2
Anisomastia
Anisometropia
Ankyloblepharon filiforme adnatum cleft palate
Ankylosis
Anodontia
Anonychia congenita
Anophthalmia with pulmonary hypoplasia
Anophthalmos
Anophthalmos with limb anomalies
Anorexia
Anorexia Nervosa
Anovulation
Anoxia
Anterior polar cataract 2
Anterior segment mesenchymal dysgenesis
Anthracosis
Anti-plasmin deficiency, congenital
Antiphospholipid Syndrome
Antisocial Personality Disorder
Antithrombin III Deficiency
Antley-Bixler Syndrome Phenotype
Anuria
Anus Neoplasms
Anus, Imperforate
Anxiety Disorders
Anxiety, Separation
Aortic Aneurysm
Aortic Aneurysm, Abdominal
Aortic Aneurysm, Familial Abdominal 1
Aortic Aneurysm, Familial Abdominal 2
Aortic Aneurysm, Familial Abdominal 3
Aortic Aneurysm, Familial Thoracic 1
Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Thoracic
Aortic Diseases
Aortic Rupture
Aortic Stenosis, Subvalvular
Aortic Stenosis, Supravalvular
Aortic Valve Disease
Aortic Valve Insufficiency
Aortic Valve Stenosis
Aortic Valve, Calcification of
Aortic aneurysm, familial thoracic 3
Aortic aneurysm, familial thoracic 4
Aphakia, congenital primary
Aphasia
Aplasia of Lacrimal and Salivary Glands
Apnea
Apolipoprotein C-III Deficiency
Apparent mineralocorticoid excess
Appendicitis
Apraxia, oculomotor, Cogan type
Apraxias
Aquagenic epilepsy
Arachnodactyly
Arenaviridae Infections
Arginine:Glycine Amidinotransferase Deficiency
Argininosuccinic Aciduria
Armfield X-Linked Mental Retardation Syndrome
Arnold-Chiari Malformation
Aromatase deficiency
Aromatic amino acid decarboxylase deficiency
Arrest of spermatogenesis
Arrhythmias, Cardiac
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arsenic Poisoning
Arterial Occlusive Diseases
Arterial Tortuosity Syndrome
Arterial calcification of infancy
Arteriosclerosis
Arteriovenous Malformations
Arteritis
Arthralgia
Arthritis
Arthritis, Experimental
Arthritis, Gouty
Arthritis, Infectious
Arthritis, Juvenile Rheumatoid
Arthritis, Psoriatic
Arthritis, Rheumatoid
Arthrogryposis
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita, distal type 1
Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, Distal, Type 4
Arthropathy, progressive pseudorheumatoid, of childhood
Arts syndrome
Asbestosis
Ascites
Aspartylglucosaminuria
Asperger Syndrome
Asphyxia
Asphyxia Neonatorum
Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 3
Asthenia
Asthenozoospermia
Asthma
Asthma, Aspirin-Induced
Asthma, Nasal Polyps, And Aspirin Intolerance
Astrocytoma
Ataxia
Ataxia Telangiectasia
Ataxia Telangiectasia Like Disorder
Ataxia with vitamin E deficiency
Ataxia, Sensory, Autosomal Dominant
Ataxia, Spastic, 1, Autosomal Dominant
Ataxia, Spastic, 2, Autosomal Recessive
Ataxia, Spastic, 3, Autosomal Recessive
Atelosteogenesis type 2
Atelosteogenesis, type 1
Athabaskan brainstem dysgenesis
Atherosclerosis
Atrial Fibrillation
Atrial Fibrillation, Familial, 2
Atrial Fibrillation, Familial, 3
Atrial Fibrillation, Familial, 4
Atrial Fibrillation, Familial, 5
Atrial Fibrillation, Familial, 6
Atrial Fibrillation, Familial, 7
Atrial Fibrillation, Familial, 8
Atrial Septal Defect 1
Atrial Septal Defect 3
Atrial Septal Defect 4
Atrial Septal Defect 5
Atrial Septal Defect 6
Atrial Standstill
Atrial fibrillation, familial 1
Atrial myxoma, familial
Atrial septal defect 2
Atrichia with Papular Lesions
Atrioventricular Block
Atrioventricular Canal Defect
Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome
Atrophy
Attention Deficit Disorder with Hyperactivity
Attention Deficit and Disruptive Behavior Disorders
Atypical Mycobacteriosis, Familial, X-Linked 1
Atypical Mycobacteriosis, Familial, X-Linked 2
Atypical hemolytic uremic syndrome
Auditory Neuropathy, Autosomal Dominant, 1
Auditory Perceptual Disorders
Auriculo-condylar syndrome
Autistic Disorder
Autoimmune Diseases
Autoimmune Diseases of the Nervous System
Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune polyendocrinopathy syndrome, type 1
Autonomic Nervous System Diseases
Autosomal dominant distal renal tubular acidosis
Autosomal recessive hypophosphatemic bone disease
Avascular necrosis of the head of femur
Axenfeld-Rieger Syndrome, Type 3
Axenfeld-Rieger syndrome
Azoospermia
Azoospermia, Nonobstructive
Azotemia
BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA
BANNAYAN-RILEY-RUVALCABA SYNDROME
BARAITSER-WINTER SYNDROME 2
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3
BENT BONE DYSPLASIA SYNDROME
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
BETA-AMINO ACIDS, RENAL TRANSPORT OF
BIRBECK GRANULE DEFICIENCY
BISPHOSPHOGLYCERATE MUTASE
BLEEDING DISORDER, PLATELET-TYPE, 11
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15
BRACHYDACTYLY, TYPE E2
BRANCHIOOTORENAL SYNDROME 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BRITTLE CORNEA SYNDROME 2
BROOKE-SPIEGLER SYNDROME
BUTYRYLCHOLINESTERASE
Back Pain
Bacteremia
Bacterial Infections
Bamforth syndrome
Barakat syndrome
Bardet-Biedl Syndrome
Bare Lymphocyte Syndrome, Type I
Bare lymphocyte syndrome 2
Barrett Esophagus
Barth Syndrome
Bartter Syndrome
Bartter Syndrome, Type 4A
Bartter Syndrome, Type 4b
Bartter syndrome, antenatal , type 2
Bartter syndrome, antenatal type 1
Bartter syndrome, type 3
Basal Cell Nevus Syndrome
Basal Ganglia Diseases
Basal Laminar Drusen
Basal ganglia disease, biotin-responsive
Bazex-Dupre-Christol syndrome
Becker muscular dystrophy
Beckwith-Wiedemann Syndrome
Behcet Syndrome
Benign essential blepharospasm
Benign paroxysmal positional vertigo
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Bernard-Soulier Syndrome
Berylliosis
Bestrophinopathy
Beta Thalassemia, Dominant Inclusion Body Type
Beta ketothiolase deficiency
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
Beta-Ureidopropionase Deficiency
Bethlem myopathy
Bietti's crystalline dystrophy
Bifid Nose With Or Without Anorectal And Renal Anomalies
Bifid nose
Bifunctional peroxisomal enzyme deficiency
Bile Acid Malabsorption, Primary
Bile Duct Neoplasms
Bile acid synthesis defect, congenital, 1
Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 4
Biliary Atresia
Biliary Cirrhosis, Primary, 2
Biliary Cirrhosis, Primary, 3
Biliary Tract Neoplasms
Biotinidase Deficiency
Bipolar Disorder
Birk-Barel Mental Retardation Dysmorphism Syndrome
Birt-Hogg-Dube Syndrome
Birth Weight
Bjornstad syndrome
Bladder Neoplasms
Bleeding Disorder Due To P2RY12 Defect
Bleeding Disorder, East Texas Type
Blepharophimosis syndrome type 1
Blepharophimosis, Ptosis, and Epicanthus Inversus
Blepharospasm
Blindness
Blister
Blood Coagulation Disorders
Blood Coagulation Disorders, Inherited
Blood Platelet Disorders
Bloom Syndrome
Blue cone monochromatism
Body Weight
Bohring syndrome
Bone Cysts, Aneurysmal
Bone Diseases
Bone Diseases, Developmental
Bone Diseases, Endocrine
Bone Diseases, Metabolic
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Bone Marrow Diseases
Bone Marrow Neoplasms
Bone Marrow failure syndromes
Bone Neoplasms
Bone Resorption
Boomerang dysplasia
Borjeson-Forssman-Lehmann syndrome
Bothnia Retinal Dystrophy
Bowen's Disease
Bowen-Conradi syndrome
Bpes With Duane Retraction Syndrome
Brachial Plexus Neuritis
Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type C
Brachydactyly with hypertension
Brachydactyly, Type A1, B
Brachydactyly, Type B1
Brachydactyly, Type B2
Brachydactyly, Type D
Brachydactyly, Type E
Brachydactyly-Syndactyly Syndrome
Brachyolmia Type 2
Brachyolmia Type 3
Bradycardia
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Brain Edema
Brain Infarction
Brain Injuries
Brain Injury
Brain Ischemia
Brain Neoplasms
Brain Small Vessel Disease with Hemorrhage
Branchio-Oto-Renal Syndrome
Branchiootic Syndrome 2
Branchiootic Syndrome 3
Branchiootic syndrome
Branchiootorenal syndrome 1
Breast Cancer 3
Breast Cancer, 11
Breast Diseases
Breast Neoplasms
Breast Neoplasms, Male
Brody myopathy
Bronchial Diseases
Bronchial Hyperreactivity
Bronchiectasis
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiolitis Obliterans
Bronchitis, Chronic
Bronchopulmonary Dysplasia
Brown-Vialetto-Van Laere syndrome
Bruck syndrome 1
Bruck syndrome 2
Brugada Syndrome
Brugada Syndrome 2
Brugada Syndrome 3
Brugada Syndrome 4
Brugada Syndrome 5
Brugada Syndrome 6
Brugada Syndrome 7
Brugada Syndrome 8
Brunner Syndrome
Bruton type agammaglobulinemia
Budd-Chiari Syndrome
Bulbar Palsy, Progressive
Bulbospinal neuronopathy, X-linked recessive
Bulimia Nervosa
Bullous Dystrophy, Hereditary Macular Type
Burkitt Lymphoma
Burns
Buruli Ulcer
Buschke-Ollendorff syndrome
Butyrylcholinesterase deficiency
C1q DEFICIENCY
C9 Deficiency
CADASIL
CANDIDIASIS, FAMILIAL, 6
CANDIDIASIS, FAMILIAL, 7
CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
CARNEY COMPLEX, TYPE 1
CAROTID INTIMAL MEDIAL THICKNESS 2
CASPASE 8 DEFICIENCY
CATARACT, CONGENITAL OR JUVENILE
CATARACT, COPPOCK-LIKE
CATSHL syndrome
CD59 Deficiency
CD8 Deficiency, Familial
CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3
CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
CEROID LIPOFUSCINOSIS, NEURONAL, 8
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARGE Syndrome
CHILBLAIN LUPUS 1
CHILBLAIN LUPUS 2
CHOANAL ATRESIA AND LYMPHEDEMA
CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
CHOREA, BENIGN HEREDITARY
CILIARY DYSKINESIA, PRIMARY, 16
CK SYNDROME
COACH syndrome
COAGULATION FACTOR X
COCKAYNE SYNDROME, TYPE A
COCKAYNE SYNDROME, TYPE B
COCOON SYNDROME
COGNITIVE FUNCTION 1, SOCIAL
COLD-INDUCED SWEATING SYNDROME 2
COLORBLINDNESS, PARTIAL, DEUTAN SERIES
COLORBLINDNESS, PARTIAL, PROTAN SERIES
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COMBINED IMMUNODEFICIENCY, X-LINKED
COMBINED MALONIC AND METHYLMALONIC ACIDURIA
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
CONE-ROD DYSTROPHY 15
CONE-ROD DYSTROPHY 16
CONE-ROD DYSTROPHY 9
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS
CORTICAL MALFORMATIONS, OCCIPITAL
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
COXSACKIEVIRUS B3 SUSCEPTIBILITY
CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 4
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
CREATINE PHOSPHOKINASE, ELEVATED SERUM
CSNB1C
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTIS LAXA, AUTOSOMAL DOMINANT 1
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CYANOSIS, TRANSIENT NEONATAL
CYSTATHIONINE BETA-SYNTHASE
Cachexia
Cadmium Poisoning
Cafe au lait spots, multiple
Cafe-au-Lait Spots
Calcification of Joints and Arteries
Calcinosis
Caliciviridae Infections
Campomelic Dysplasia
Camptodactyly 1
Camurati-Engelmann Syndrome
Canavan Disease
Cancer, Familial, with In Vitro Radioresistance
Candidiasis
Candidiasis familial chronic mucocutaneous, autosomal recessive
Candidiasis, Chronic Mucocutaneous
Candidiasis, Familial, 1
Candidiasis, Familial, 2
Candidiasis, Familial, 3
Candidiasis, Oral
Candidiasis, Vulvovaginal
Cantu syndrome
Capillary Malformation-Arteriovenous Malformation
Capillary Malformations, Congenital, 1
Carbamoyl-Phosphate Synthase I Deficiency Disease
Carbohydrate Metabolism, Inborn Errors
Carbon Tetrachloride Poisoning
Carboxypeptidase N Deficiency
Carcinoid Tumors, Intestinal
Carcinoma
Carcinoma in Situ
Carcinoma of lung
Carcinoma, Adenoid Cystic
Carcinoma, Basal Cell
Carcinoma, Ductal
Carcinoma, Ductal, Breast
Carcinoma, Ehrlich Tumor
Carcinoma, Embryonal
Carcinoma, Endometrioid
Carcinoma, Hepatocellular
Carcinoma, Intraductal, Noninfiltrating
Carcinoma, Large Cell
Carcinoma, Lewis Lung
Carcinoma, Lobular
Carcinoma, Medullary
Carcinoma, Neuroendocrine
Carcinoma, Non-Small-Cell Lung
Carcinoma, Oral
Carcinoma, Pancreatic Ductal
Carcinoma, Renal Cell
Carcinoma, Small Cell
Carcinoma, Squamous Cell
Carcinoma, Transitional Cell
Carcinoma, squamous cell of head and neck
Carcinosarcoma
Cardiac Arrhythmia, Ankyrin-B-Related
Cardiac Conduction Defect
Cardiac Output, High
Cardiac Tamponade
Cardiac valvular dysplasia, X-linked
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardiofaciocutaneous syndrome
Cardiomegaly
Cardiomyopathies
Cardiomyopathy dilated with Woolly hair and keratoderma
Cardiomyopathy, Alcoholic
Cardiomyopathy, Dilated
Cardiomyopathy, Dilated, 1AA
Cardiomyopathy, Dilated, 1BB
Cardiomyopathy, Dilated, 1C
Cardiomyopathy, Dilated, 1CC
Cardiomyopathy, Dilated, 1D
Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1E
Cardiomyopathy, Dilated, 1EE
Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1J
Cardiomyopathy, Dilated, 1K
Cardiomyopathy, Dilated, 1M
Cardiomyopathy, Dilated, 1N
Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1s
Cardiomyopathy, Dilated, 1t
Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x
Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Familial Hypertrophic, 10
Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14
Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4
Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Restrictive, 1
Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Restrictive
Cardiomyopathy, infantile histiocytoid
Cardiovascular Abnormalities
Cardiovascular Diseases
Cardiovirus Infections
Carnevale syndrome
Carney Complex
Carney Complex Variant
Carney-Stratakis Syndrome
Carnitine Palmitoyltransferase I Deficiency
Carnitine Palmitoyltransferase II Deficiency, Infantile
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Carnitine palmitoyl transferase 1A deficiency
Carnitine-Acylcarnitine Translocase Deficiency
Carotid Artery Diseases
Carotid Artery Thrombosis
Carotid Intimal Medial Thickness 1
Carotid Stenosis
Carpal Tunnel Syndrome
Cartilage Diseases
Cartilage-hair hypoplasia
Catalepsy
Cataract
Cataract anterior polar dominant
Cataract congenital Volkmann type
Cataract microcornea syndrome
Cataract, Age-Related Cortical, 1
Cataract, Autosomal Dominant
Cataract, Autosomal Dominant, Multiple Types 1
Cataract, Autosomal Recessive Congenital 3
Cataract, Autosomal Recessive, Early-Onset, Pulverulent
Cataract, Central Saccular, With Sutural Opacities
Cataract, Congenital Nuclear, Autosomal Recessive 1
Cataract, Congenital Nuclear, Autosomal Recessive 2
Cataract, Congenital Nuclear, Autosomal Recessive 3
Cataract, Congenital Zonular, with Sutural Opacities
Cataract, Congenital, Cerulean Type, 2
Cataract, Coppock-Like
Cataract, Cortical, Juvenile-Onset
Cataract, Crystalline Aculeiform
Cataract, Juvenile, With Microcornea And Glucosuria
Cataract, Lamellar 2
Cataract, Nuclear Progressive
Cataract, Pulverulent, Juvenile-Onset
Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 3
Cataract, autosomal recessive congenital 2
Cataract, posterior polar, 1
Cataract, posterior polar, 3
Cataract, posterior polar, 4
Cataract, posterior polar, 5
Cataract, total congenital
Cataract, zonular
Catatonia
Caudal Duplication Anomaly
Caudal regression syndrome
Cavernous hemangioma of brain
Cavitary Optic Disc Anomalies
Cayler cardiofacial syndrome
CdLS, X-Linked
Cecal Neoplasms
Celiac Disease
Cell Transformation, Neoplastic
Cellulitis
Central Nervous System Diseases
Cerebellar Ataxia
Cerebellar Ataxia, Cayman Type
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Cerebellar Diseases
Cerebellar Neoplasms
Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy, App-Related
Cerebral Amyloid Angiopathy, Familial
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Cerebral Cavernous Malformations 2
Cerebral Cavernous Malformations 3
Cerebral Hemorrhage
Cerebral Infarction
Cerebral Ischemia
Cerebral Palsy
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral Palsy, Spastic Quadriplegic, 1
Cerebral Palsy, Spastic Quadriplegic, 2
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 4
Cerebroretinal Microangiopathy with Calcifications and Cysts
Cerebrovascular Disorders
Ceroid Lipofuscinosis, Neuronal, 1
Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 7
Ceroid lipofuscinosis, neuronal 1, infantile
Ceroid lipofuscinosis, neuronal 3, Juvenile
Ceroid lipofuscinosis, neuronal 4
Ceroid lipofuscinosis, neuronal 5
Ceroid lipofuscinosis, neuronal 8
Ceroid lipofuscinosis, neuronal 9
Cerulean cataract
Cervical Dystonia, Primary
Cervical Intraepithelial Neoplasia
Cervical Neoplasms
Cervix carcinoma
Char syndrome
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2A2
Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Charcot-Marie-Tooth Disease, Type 4H
Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth disease, Type 1C
Charcot-Marie-Tooth disease, Type 1D
Charcot-Marie-Tooth disease, Type 1F
Charcot-Marie-Tooth disease, Type 2B
Charcot-Marie-Tooth disease, Type 2B1
Charcot-Marie-Tooth disease, Type 2B2
Charcot-Marie-Tooth disease, Type 2D
Charcot-Marie-Tooth disease, Type 2E
Charcot-Marie-Tooth disease, Type 2F
Charcot-Marie-Tooth disease, Type 2G
Charcot-Marie-Tooth disease, Type 2H
Charcot-Marie-Tooth disease, Type 2I
Charcot-Marie-Tooth disease, Type 2J
Charcot-Marie-Tooth disease, Type 2K
Charcot-Marie-Tooth disease, Type 4A
Charcot-Marie-Tooth disease, Type 4A, axonal form
Charcot-Marie-Tooth disease, Type 4B1
Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4C
Charcot-Marie-Tooth disease, Type 4E
Charcot-Marie-Tooth disease, X-linked recessive, 2
Charcot-Marie-Tooth disease, X-linked recessive, 3
Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type IB
Chediak-Higashi Syndrome
Cherubism
Chest Pain
Chilblain lupus
Child Development Disorders, Pervasive
Childhood Ataxia with Central Nervous System Hypomyelinization
Chills
Chlamydia Infections
Chloracne
Cholangiocarcinoma
Cholangitis
Cholecystitis
Choledocholithiasis
Cholelithiasis
Cholestasis
Cholestasis, Intrahepatic
Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 2
Cholestasis, intrahepatic of pregnancy
Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 2
Cholestasis, progressive familial intrahepatic 3
Cholesteatoma
Chondrocalcinosis
Chondrocalcinosis 1
Chondrocalcinosis 2
Chondrodysplasia Punctata
Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia punctata 2, X-linked dominant
Chondrodysplasia punctata, brachytelephalangic
Chondrodysplasia, Grebe type
Chondrodysplasia, acromesomelic, with genital anomalies
Chondrodysplasia, blomstrand type
Chondroma
Chondrosarcoma
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma, Mesenchymal
Chordoma
Chorea
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress
Choreoathetosis/Spasticity, Episodic
Chorioamnionitis
Choriocarcinoma
Chorioretinal atrophy, progressive bifocal
Choroidal Dystrophy, Central Areolar 2
Choroidal Neovascularization
Choroidal dystrophy central areolar
Choroideremia
Chromosomal Instability
Chromosome 17 deletion
Chromosome 2q37 deletion syndrome
Chromosome 3, monosomy 3p25
Chromosome Aberrations
Chromosome Breakage
Chromosome Disorders
Chromosome Xp11.3 Deletion Syndrome
Chronic Periodontitis
Chronic infantile neurological, cutaneous and articular syndrome
Chronobiology Disorders
Chudley-Mccullough syndrome
Chylomicron retention disease
Cicatrix
Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11
Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13
Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7
Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9
Ciliary Motility Disorders
Cirrhosis, Familial
Citrullinemia
Classical Lissencephalies and Subcortical Band Heterotopias
Classical Lissencephaly
Classical phenylketonuria
Cleft Lip
Cleft Palate
Cleft Palate, Isolated, And Mental Retardation
Cleft palate X-linked
Cleidocranial Dysplasia
Clubfoot
Cocaine-Related Disorders
Cochlear Diseases
Cockayne Syndrome
Coenzyme Q10 Deficiency
Coffin-Lowry Syndrome
Coffin-Siris syndrome
Cognition Disorders
Cohen syndrome
Cold-Induced Sweating Syndrome 1
Colitis
Colitis, Ulcerative
Coloboma
Coloboma of optic nerve
Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities
Colon Neoplasms
Colonic Neoplasms
Colonic Polyps
Color Vision Defects
Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Cancer
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Colorectal Neoplasms
Colorectal Neoplasms, Hereditary Nonpolyposis
Colorectal cancer, hereditary nonpolyposis, type 1
Coma
Coma, Post-Head Injury
Combined Cellular And Humoral Immune Defects With Granulomas
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 2
Combined Oxidative Phosphorylation Deficiency 3
Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 5
Combined Saposin Deficiency
Common Variable Immunodeficiency
Compartment Syndromes
Complement Component 3 Deficiency, Autosomal Recessive
Complement Component 4, Partial Deficiency Of
Complement Component 6 Deficiency
Complement Component 7 Deficiency
Complement Factor D Deficiency
Complement Factor H Deficiency
Complement Factor I Deficiency
Complement component 5 deficiency
Cone Dystrophy 3
Cone Dystrophy 4
Cone-Rod Dystrophy 1
Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11
Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 3
Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 8
Cone-Rod Dystrophy, X-Linked, 2
Cone-Rod Dystrophy, X-Linked, 3
Cone-Rod Dystrophy, X-Linked, Type 1
Congenital Abnormalities
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Congenital Disorder Of Glycosylation, Type ID
Congenital Disorder Of Glycosylation, Type IIB
Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIH
Congenital Disorder Of Glycosylation, Type Ic
Congenital Disorder Of Glycosylation, Type Im
Congenital Disorder Of Glycosylation, Type In
Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Io
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Congenital Hyperinsulinism
Congenital Hypothyroidism
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital amegakaryocytic thrombocytopenia
Congenital anosmia
Congenital atransferrinemia
Congenital bilateral aplasia of vas deferens
Congenital central hypoventilation syndrome
Congenital chloride diarrhea
Congenital contractural arachnodactyly
Congenital diaphragmatic hernia
Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1D
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type 1F
Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1I
Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2D
Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2G
Congenital dyserythropoietic anemia, type I
Congenital dyserythropoietic anemia, type II
Congenital hypertrichosis lanuginosa
Congenital idiopathic intestinal pseudoobstruction
Congenital myasthenic syndrome ib
Congenital myasthenic syndrome with episodic apnea
Congenital myopathy with fiber type disproportion
Congenital thrombotic disease, due to Protein C deficiency
Connective Tissue Diseases
Conotruncal cardiac defects
Constipation
Contiguous Abcd1/Dxs1375e Deletion Syndrome
Contracture
Convulsions benign familial neonatal dominant form
Convulsions, Benign Familial Infantile, 2
Convulsions, Benign Familial Infantile, 3
Convulsions, Benign Familial Infantile, 4
Convulsions, benign familial infantile, 1
Coproporphyria, Hereditary
Cornea Plana 1
Cornea Plana 2
Corneal Diseases
Corneal Dystrophies, Hereditary
Corneal Dystrophy, Congenital Stromal
Corneal Dystrophy, Crystalline, of Schnyder
Corneal Dystrophy, Endothelial, X-Linked
Corneal Dystrophy, Fleck
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal Dystrophy, Fuchs Endothelial, 5
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal Dystrophy, Fuchs Endothelial, 7
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Corneal Dystrophy, Lattice Type IIIA
Corneal Dystrophy, Lisch Epithelial
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal Neovascularization
Corneal Opacity
Corneal Ulcer
Corneal dystrophy Avellino type
Corneal dystrophy and perceptive deafness
Corneal dystrophy of Bowman layer, type 1
Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 2
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, gelatinous drop-like
Corneal endothelial dystrophy type 2
Coronary Aneurysm
Coronary Artery Disease
Coronary Artery Disease, Autosomal Dominant 2
Coronary Artery Disease, Autosomal Dominant, 1
Coronary Disease
Coronary Restenosis
Coronary Stenosis
Coronary Thrombosis
Coronary Vasospasm
Coronary Vessel Anomalies
Coronaviridae Infections
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia
Corpus Callosum, Partial Agenesis of, X-Linked
Corpus callosum agenesis neuronopathy
Cortical Dysplasia-Focal Epilepsy Syndrome
Corticosteroid-Binding Globulin Deficiency
Cortisone reductase deficiency
Costeff optic atrophy syndrome
Costello Syndrome
Cough
Coumarin Resistance
Cowchock syndrome
Cowden-Like Syndrome
Coxsackievirus Infections
Craniocerebral Trauma
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cranioectodermal Dysplasia
Craniofacial Abnormalities
Craniofacial Dysostosis
Craniofacial deafness hand syndrome
Craniofacioskeletal Syndrome
Craniofrontonasal dysplasia
Craniolenticulosutural Dysplasia
Craniometaphyseal Dysplasia, Autosomal Dominant
Craniometaphyseal dysplasia, autosomal recessive type
Craniosynostoses
Craniosynostosis radial aplasia syndrome
Craniosynostosis, Adelaide Type
Craniosynostosis, Type 2
Craniosynostosis, anal anomalies, and porokeratosis
Creatine deficiency, X-linked
Creutzfeldt-Jakob Syndrome
Cri-du-Chat Syndrome
Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 2
Crisponi syndrome
Critical Illness
Crohn Disease
Crouzon Syndrome With Acanthosis Nigricans
Cryopyrin-Associated Periodic Syndromes
Cryptorchidism
Cryptosporidium
Cubitus Valgus with Mental Retardation and Unusual Facies
Currarino triad
Cushing Syndrome
Cushing's symphalangism
Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Laxa
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa, Autosomal Recessive, Type I
Cutis Laxa, Autosomal Recessive, Type IIA
Cutis Laxa, Autosomal Recessive, Type IIB
Cutis laxa, recessive
Cyanosis
Cyclic neutropenia
Cystathioninuria
Cystic Fibrosis
Cystic Fibrosis Modifier 1
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
Cystinosis, ocular nonnephropathic
Cystinuria
Cystitis
Cystitis, Interstitial
Cysts
Cytochrome-c Oxidase Deficiency
Cytomegalovirus Infections
Czech dysplasia, metatarsal type
D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 2
D-Glyceric aciduria
DEAFNESS, AUTOSOMAL DOMINANT 27
DEAFNESS, AUTOSOMAL DOMINANT 4B
DEAFNESS, AUTOSOMAL DOMINANT 50
DEAFNESS, AUTOSOMAL DOMINANT 64
DEAFNESS, AUTOSOMAL RECESSIVE 25
DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT
DEAFNESS, AUTOSOMAL RECESSIVE 45
DEAFNESS, AUTOSOMAL RECESSIVE 74
DEAFNESS, AUTOSOMAL RECESSIVE 83
DEAFNESS, AUTOSOMAL RECESSIVE 84
DEAFNESS, AUTOSOMAL RECESSIVE 85
DEAFNESS, AUTOSOMAL RECESSIVE 91
DEAFNESS, NONSYNDROMIC, MODIFIER 1
DEAFNESS, Y-LINKED 1
DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO
DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY
DERMODISTORTIVE URTICARIA
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
DIABETES MELLITUS, INSULIN-DEPENDENT, X-LINKED, SUSCEPTIBILITY TO
DNA Repair-Deficiency Disorders
DUANE RETRACTION SYNDROME 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, X-LINKED
Dandy-Walker Syndrome
Darier Disease
De Barsy syndrome
De Lange Syndrome
De Sanctis-Cacchione syndrome
De Vivo disease
Deafness
Deafness, Aminoglycoside-Induced
Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 13
Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 16
Deafness, Autosomal Dominant 17
Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 21
Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 23
Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 25
Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2B
Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
Deafness, Autosomal Dominant 3A
Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 41
Deafness, Autosomal Dominant 43
Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 47
Deafness, Autosomal Dominant 48
Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 5
Deafness, Autosomal Dominant 52
Deafness, Autosomal Dominant 53
Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 6
Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 18
Deafness, Autosomal Recessive 1A
Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 2
Deafness, Autosomal Recessive 20
Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 26
Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 32
Deafness, Autosomal Recessive 33
Deafness, Autosomal Recessive 35
Deafness, Autosomal Recessive 37
Deafness, Autosomal Recessive 38
Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 5
Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 63
Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 7
Deafness, Autosomal Recessive 71
Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive, 24
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
Deafness, Sensorineural, And Male Infertility
Deafness, X-Linked 1
Deafness, X-Linked 3
Deafness, X-Linked 4
Deafness, X-Linked 5
Deafness, autosomal recessive 51
Deafness, autosomal recessive 55
Death
Death, Sudden
Death, Sudden, Cardiac
Deficiency Diseases
Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of galactokinase
Deficiency of interleukin-1 receptor antagonist
Deficiency of phosphoserine phosphatase
Deglutition Disorders
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
Dehydration
Delayed Emergence from Anesthesia
Delirium, Dementia, Amnestic, Cognitive Disorders
Dementia
Dementia, Vascular
Dementia, familial British
Dementia, familial Danish
Demyelinating Diseases
Dengue
Dengue Hemorrhagic Fever
Dent Disease
Dent Disease 2
Dent disease 1
Dentin dysplasia, type II
Dentinogenesis Imperfecta
Dentinogenesis imperfecta, shields type 3
Denys-Drash Syndrome
Depressive Disorder
Depressive Disorder, Major
Dermatitis
Dermatitis, Allergic Contact
Dermatitis, Atopic
Dermatitis, Atopic, 1
Dermatitis, Atopic, 2
Dermatitis, Atopic, 3
Dermatitis, Atopic, 4
Dermatitis, Atopic, 5
Dermatitis, Atopic, 6
Dermatitis, Atopic, 7
Dermatitis, Contact
Dermatitis, Occupational
Dermatomyositis
Dermatopathia pigmentosa reticularis
Dermoids of cornea
Desbuquois syndrome
Desmoid disease, hereditary
Desmosterolosis
Developmental Disabilities
Developmental verbal dyspraxia
Dextrocardia
DiGeorge Syndrome
Diabetes Complications
Diabetes Insipidus
Diabetes Insipidus, Nephrogenic
Diabetes Insipidus, Neurogenic
Diabetes Mellitus
Diabetes Mellitus, Experimental
Diabetes Mellitus, Insulin-Dependent, 10
Diabetes Mellitus, Insulin-Dependent, 11
Diabetes Mellitus, Insulin-Dependent, 12
Diabetes Mellitus, Insulin-Dependent, 13
Diabetes Mellitus, Insulin-Dependent, 15
Diabetes Mellitus, Insulin-Dependent, 17
Diabetes Mellitus, Insulin-Dependent, 18
Diabetes Mellitus, Insulin-Dependent, 19
Diabetes Mellitus, Insulin-Dependent, 2
Diabetes Mellitus, Insulin-Dependent, 20
Diabetes Mellitus, Insulin-Dependent, 21
Diabetes Mellitus, Insulin-Dependent, 22
Diabetes Mellitus, Insulin-Dependent, 23
Diabetes Mellitus, Insulin-Dependent, 24
Diabetes Mellitus, Insulin-Dependent, 3
Diabetes Mellitus, Insulin-Dependent, 4
Diabetes Mellitus, Insulin-Dependent, 5
Diabetes Mellitus, Insulin-Dependent, 6
Diabetes Mellitus, Insulin-Dependent, 7
Diabetes Mellitus, Insulin-Dependent, 8
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
Diabetes Mellitus, Noninsulin-Dependent, 1
Diabetes Mellitus, Noninsulin-Dependent, 2
Diabetes Mellitus, Noninsulin-Dependent, 3
Diabetes Mellitus, Noninsulin-Dependent, Type 4
Diabetes Mellitus, Permanent Neonatal
Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis
Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 2
Diabetes Mellitus, Transient Neonatal, 3
Diabetes Mellitus, Type 1
Diabetes Mellitus, Type 2
Diabetes, Gestational
Diabetic Angiopathies
Diabetic Cardiomyopathies
Diabetic Ketoacidosis
Diabetic Nephropathies
Diabetic Neuropathies
Diabetic Retinopathy
Diamond-Blackfan Anemia 10
Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 7
Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 9
Diaphanospondylodysostosis
Diaphragmatic Hernia 2
Diaphragmatic Hernia 3
Diarrhea
Diarrhea 3, Secretory Sodium, Congenital
Diarrhea 4, Malabsorptive, Congenital
Diarrhea 5, With Tufting Enteropathy, Congenital
Diastrophic dysplasia
Diffuse Cerebral Sclerosis of Schilder
Diffuse palmoplantar keratoderma, Bothnian type
Diffuse panbronchiolitis
Digeorge Syndrome/Velocardiofacial Syndrome Complex 2
Digestive System Neoplasms
Digital Arthropathy-Brachydactyly, Familial
Digital Clubbing, Isolated Congenital
Dihydropyrimidinase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency
Dimauro disease
Dimethylglycine Dehydrogenase Deficiency
Disease Models, Animal
Disease Progression
Disease Susceptibility
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Disorders of Sex Development
Disseminated Intravascular Coagulation
Distal Myopathies
Distal arthrogryposis type 2B
Distal myopathy Markesbery-Griggs type
Distal myopathy, Nonaka type
Dog Diseases
Donnai-Barrow syndrome
Donohue Syndrome
Dopamine beta hydroxylase deficiency
Dosage-sensitive sex reversal
Double Outlet Right Ventricle
Dowling-Degos Disease
Down Syndrome
Doyne honeycomb retinal dystrophy
Drug Eruptions
Drug Hypersensitivity
Drug Metabolism, Poor, CYP2C19-Related
Drug Metabolism, Poor, CYP2D6-Related
Drug Overdose
Drug Toxicity
Drug-Induced Liver Injury
Dry Eye Syndromes
Duane Anomaly with Radial Ray Abnormalities and Deafness
Duane Retraction Syndrome
Ductus Arteriosus, Patent
Duodenal Ulcer
Dupuytren Contracture
Dwarfism
Dwarfism, Pituitary
Dyggve-Melchior-Clausen syndrome
Dysarthria
Dysautonomia, Familial
Dyschromatosis Universalis Hereditaria 1
Dyschromatosis Universalis Hereditaria 2
Dyschromatosis symmetrica hereditaria 1
Dysequilibrium syndrome
Dyserythropoietic Anemia with Thrombocytopenia
Dysgammaglobulinemia
Dysgnathia complex
Dyskeratosis Congenita
Dyskeratosis Congenita, Autosomal Dominant
Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis, Hereditary Benign Intraepithelial
Dyskinesia, Drug-Induced
Dyskinesia, Familial, with Facial Myokymia
Dyskinesias
Dyslexia
Dyslipidemias
Dysmenorrhea
Dysostoses
Dyspepsia
Dyspnea
Dyssegmental dysplasia
Dyssomnias
Dystonia
Dystonia 12
Dystonia 13, Torsion
Dystonia 15, myoclonic
Dystonia 16
Dystonia 17, Torsion, Autosomal Recessive
Dystonia 18
Dystonia 3, Torsion, X-Linked
Dystonia 6, torsion
Dystonia musculorum deformans 4
Dystonia musculorum deformans type 1
Dystonia musculorum deformans type 2
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-responsive
Dystonia-Parkinsonism, Adult-Onset
Dystonic Disorders
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
Dystrophia myotonica 1
Dystrophia myotonica 2
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2
ECTOPIA LENTIS, ISOLATED, AUTOSOMAL DOMINANT
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUCEPTIBILITY TO
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
EPILEPSY, HOT WATER, 2
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE
EPILEPSY, PROGRESSIVE MYOCLONIC 5
EPILEPSY, PROGRESSIVE MYOCLONIC 6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPSTEIN-BARR VIRUS INSERTION SITE 1
ERYTHERMALGIA, PRIMARY
ESOPHAGEAL CARCINOMA
EXOSTOSES, MULTIPLE, TYPE II
Ear Diseases
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
Eating Disorders
Echo Virus 11 Sensitivity
Eclampsia
Ectodermal Dysplasia 1, Anhidrotic
Ectodermal Dysplasia 3, Anhidrotic
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia, Pure Hair-Nail Type
Ectodermal dysplasia 2, hidrotic
Ectodermal dysplasia, ectrodactyly, and macular dystrophy
Ectodermal dysplasia, hypohidrotic, with immune deficiency
Ectodermal dysplasia/ skin fragility syndrome
Ectopia Lentis
Ectopia Lentis, Isolated, Autosomal Recessive
Ectopia pupillae
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3
Ectrodactyly-cleft lip/palate syndrome
Eczema
Edema
Edema, Cardiac
Ehlers Danlos syndrome type 4, autosomal dominant
Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive
Ehlers-Danlos Syndrome, Type VIII
Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome caused by tenascin-X deficiency
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, progeroid form
Eiken Skeletal Dysplasia
Elliptocytosis 1
Elliptocytosis 2
Elliptocytosis, Hereditary
Ellis-Van Creveld Syndrome
Emaciation
Emanuel syndrome
Embolism
Embolism and Thrombosis
Embolism, Cholesterol
Embryo Loss
Emery-Dreifuss Muscular Dystrophy 4
Emphysema
Empty Sella Syndrome
Encephalitis
Encephalitis, Herpes Simplex
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephaloclastic Proliferative Vasculopathy
Encephalomyelitis, Autoimmune, Experimental
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Enchondromatosis
End Stage Liver Disease
Endocrine System Diseases
Endocrine-Cerebroosteodysplasia
Endometrial Carcinoma
Endometrial Hyperplasia
Endometrial Neoplasms
Endometriosis
Endomyocardial Fibrosis
Endothelium, Vascular
Endotoxemia
Endplate Acetylcholinesterase Deficiency
Enhanced S-Cone Syndrome
Enlarged Vestibular Aqueduct
Entamoebiasis
Enterocolitis
Enterocolitis, Necrotizing
Enterokinase Deficiency
Enterovirus Infections
Enuresis, Nocturnal, 2
Eosinophilia
Eosinophilia, Familial
Eosinophilia-Myalgia Syndrome
Eosinophilic Esophagitis
Ependymoma
Epidermal Cyst
Epidermal Necrolysis, Toxic
Epidermodysplasia Verruciformis
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysis Bullosa Dystrophica Neurotrophica
Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Epidermolysis Bullosa Simplex, Autosomal Recessive
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa, Junctional
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Epidermolysis bullosa dystrophica, Pasini type
Epidermolysis bullosa letalis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa, lethal acantholytic
Epidermolysis bullosa, pretibial
Epilepsies, Myoclonic
Epilepsies, Partial
Epilepsy
Epilepsy juvenile absence
Epilepsy, Absence
Epilepsy, Benign Neonatal
Epilepsy, Benign Neonatal, 3
Epilepsy, Complex Partial
Epilepsy, Familial Adult Myoclonic, 3
Epilepsy, Familial Mesial Temporal Lobe
Epilepsy, Familial Temporal Lobe, 4
Epilepsy, Female-Restricted, with Mental Retardation
Epilepsy, Frontal Lobe
Epilepsy, Generalized
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
Epilepsy, Myoclonic, Benign Adult Familial, Type 1
Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Epilepsy, Nocturnal Frontal Lobe, Type 1
Epilepsy, Nocturnal Frontal Lobe, Type 2
Epilepsy, Nocturnal Frontal Lobe, Type 3
Epilepsy, Nocturnal Frontal Lobe, Type 4
Epilepsy, Partial, with Pericentral Spikes
Epilepsy, Partial, with Variable Foci
Epilepsy, Progressive Myoclonic 3
Epilepsy, Progressive Myoclonic, 1b
Epilepsy, Rolandic
Epilepsy, Temporal Lobe
Epilepsy, Tonic-Clonic
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2
Epileptic Encephalopathy, Early Infantile, 3
Epileptic Encephalopathy, Early Infantile, 4
Epileptic encephalopathy, Lennox-Gastaut type
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, 4
Epiphyseal dysplasia, multiple, 5
Episodic Ataxia, Type 1
Episodic Ataxia, Type 3
Episodic Ataxia, Type 5
Episodic Ataxia, Type 6
Episodic Ataxia, Type 7
Episodic Kinesigenic Dyskinesia 2
Episodic Muscle Weakness, X-Linked
Episodic ataxia with nystagmus
Epstein syndrome
Erectile Dysfunction
Erythema
Erythema Multiforme
Erythrocyte Amp Deaminase Deficiency
Erythrocyte Lactate Transporter Defect
Erythrocytosis, Familial, 2
Erythrocytosis, Familial, 3
Erythrocytosis, Familial, 4
Erythrokeratoderma, Reticular
Erythrokeratodermia Variabilis
Erythrokeratodermia Variabilis 3
Erythromelalgia
Erythropoiesis
Esophageal Diseases
Esophageal Neoplasms
Esophageal Squamous Cell Carcinoma
Esophageal Stenosis
Esophageal and Gastric Varices
Esophagitis
Esophagitis, Peptic
Esophagus
Essential Tremor
Ethylmalonic encephalopathy
Exanthema
Exfoliation Syndrome
Exocrine Pancreatic Insufficiency
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
Exostoses, Multiple Hereditary
Exostoses, Multiple, Type III
Extravasation of Diagnostic and Therapeutic Materials
Exudative Vitreoretinopathy 3
Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy, Familial, X-Linked Recessive
Exudative vitreoretinopathy 1
Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Eye Pain
Eyelid Diseases
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FANCF GENE
FANCG GENE
FANCONI ANEMIA, COMPLEMENTATION GROUP A
FANCONI ANEMIA, COMPLEMENTATION GROUP C
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP E
FANCONI ANEMIA, COMPLEMENTATION GROUP O
FARBER LIPOGRANULOMATOSIS
FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1
FEBRILE SEIZURES, FAMILIAL, 1
FEBRILE SEIZURES, FAMILIAL, 11
FG SYNDROME 2
FG SYNDROME 4
FIBROCHONDROGENESIS 1
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
FORSYTHE-WAKELING SYNDROME
FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 3
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
FRUCTOSURIA, ESSENTIAL
Fabry Disease
Facial Asymmetry
Facial Dermatoses
Facial Paralysis
Facial paresis, hereditary, congenital
Facies
Facioscapulohumeral Muscular Dystrophy 1B
Facioscapulohumeral muscular dystrophy 1a
Factor 8 deficiency, acquired
Factor V Deficiency
Factor VII Deficiency
Factor X Deficiency
Factor XI Deficiency
Factor XII Deficiency
Factor XIII Deficiency
Factor XIII, B Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of
Failure of Tooth Eruption, Primary
Fairbank disease
Familial Cold Autoinflammatory Syndrome 2
Familial Glucocorticoid Deficiency 1
Familial HDL deficiency
Familial Mediterranean Fever
Familial Mediterranean Fever, Autosomal Dominant
Familial Multiple Coagulation Factor Deficiency I
Familial Testotoxicosis
Familial antiphospholipid syndrome
Familial apoceruloplasmin deficiency
Familial benign hypercalcemia, type 3
Familial cold urticaria
Familial cylindromatosis
Familial dilated cardiomyopathy
Familial encephalopathy with neuroserpin inclusion bodies
Familial hemophagocytic lymphohistiocytosis
Familial hypoalphalipoproteinemia
Familial medullary thyroid carcinoma
Familial myelofibrosis
Familial paroxysmal dystonia
Familial porencephaly
Familial ventricular tachycardia
Fanconi Anemia
Fanconi Anemia, Complementation Group B
Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I
Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N
Fanconi Syndrome
Fanconi-Bickel Syndrome
Farber Lipogranulomatosis
Fasciculation
Fatigue
Fatty Liver
Fatty Liver, Alcoholic
Fatty Liver, Non-Alcoholic
Favism
Febrile Convulsions, Familial, 10
Febrile Convulsions, Familial, 2
Febrile Convulsions, Familial, 4
Febrile Convulsions, Familial, 5
Febrile Convulsions, Familial, 6
Febrile Convulsions, Familial, 7
Febrile Convulsions, Familial, 9
Fechtner syndrome
Female Urogenital Diseases
Feminization
Femoral Fractures
Femur Head Necrosis
Fertile eunuch syndrome
Fetal Alcohol Syndrome
Fetal Death
Fetal Diseases
Fetal Distress
Fetal Growth Retardation
Fetal Membranes, Premature Rupture
Fetal Resorption
Fever
Fg Syndrome 5
Fibroblasts
Fibrodysplasia Ossificans Progressiva
Fibroma
Fibromatosis, Abdominal
Fibromatosis, Aggressive
Fibromatosis, Gingival, 2
Fibromatosis, Gingival, 4
Fibromatosis, Gingival, Type 1
Fibromatosis, gingival, 3
Fibrosarcoma
Fibrosis
Fibrosis Of Extraocular Muscles, Congenital, 2
Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement
Fibrous Dysplasia of Bone
Fibrous Dysplasia, Polyostotic
Fibular hypoplasia and complex brachydactyly
Filaminopathy, autosomal dominant
Finnish congenital nephrotic syndrome
Finnish lethal neonatal metabolic syndrome
Fish-eye disease
Flaujeac factor deficiency
Flavivirus Infections
Fleck Retina, Familial Benign
Flushing
Focal Dermal Hypoplasia
Focal Epithelial Hyperplasia
Focal Segmental Glomerulosclerosis 2
Focal Segmental Glomerulosclerosis 5
Focal cortical dysplasia of Taylor
Folate Malabsorption, Hereditary
Folic Acid Deficiency
Follicle-stimulating hormone deficiency, isolated
Food Hypersensitivity
Foodborne Diseases
Foot Deformities, Congenital
Foveal Hypoplasia and Anterior Segment Dysgenesis
Foveomacular Dystrophy, Adult-Onset
Fractures, Bone
Fractures, Closed
Fragile X Syndrome
Fragile X Tremor Ataxia Syndrome
Francisella
Fraser Syndrome
Frasier Syndrome
Freeman-Sheldon syndrome
Friedreich Ataxia
Friedreich Ataxia 1
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontotemporal Dementia
Frontotemporal Dementia, Chromosome 3-Linked
Frontotemporal Lobar Degeneration
Fructose Intolerance
Fructose-1,6-Diphosphatase Deficiency
Fructosuria
Fucosidosis
Fuhrmann syndrome
Fumarase deficiency
Fumaric aciduria
Fundus Albipunctatus
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
GALACTOSEMIA
GASTRIC CANCER, HEREDITARY DIFFUSE
GAUCHER DISEASE, TYPE I
GAUCHER DISEASE, TYPE III
GDP DISSOCIATION INHIBITOR 1
GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 2
GLAUCOMA 3, PRIMARY CONGENITAL, C
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
GLUCOCORTICOID RECEPTOR
GLUCOSE-6-PHOSPHATE DEHYDROGENASE
GLYCOGEN STORAGE DISEASE VI
GLYCOGEN STORAGE DISEASE XV
GM1-GANGLIOSIDOSIS, TYPE I
GM1-GANGLIOSIDOSIS, TYPE II
GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 1
Gait Disorders, Neurologic
Galactorrhea
Galactosemias
Gallbladder Disease 4
Gallbladder Neoplasms
Gallstones
Gambling
Gamma aminobutyric acid transaminase deficiency
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-cystathionase deficiency
Gangliosidosis, GM1
Gastric Antral Vascular Ectasia
Gastric Neoplasms
Gastrinoma
Gastritis, Atrophic
Gastroenteritis
Gastroesophageal Reflux
Gastrointestinal Diseases
Gastrointestinal Hemorrhage
Gastrointestinal Neoplasms
Gastrointestinal Stromal Tumors
Gastroparesis
Gaucher Disease
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Gaucher Disease, Perinatal Lethal
Gaucher-like disease
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Genee-Wiedemann syndrome
Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized Epilepsy With Febrile Seizures Plus, Type 3
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized Epilepsy With Febrile Seizures Plus, Type 6
Generalized Epilepsy and Paroxysmal Dyskinesia
Generalized epidermolysis bullosa simplex
Generalized pustular psoriasis
Genes, APC
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Genetic Predisposition to Disease
Geniospasm
Genital Neoplasms, Female
Gerodermia osteodysplastica
Gerstmann-Straussler-Scheinker Disease
Gestational Trophoblastic Disease
Ghosal Hematodiaphyseal Dysplasia
Giant Axonal Neuropathy
Giant Cell Tumors
Giant Lymph Node Hyperplasia
Giedion syndrome
Gilbert Disease
Gingival Hyperplasia
Gingival Hypertrophy
Gitelman Syndrome
Glaucoma
Glaucoma 1, Open Angle, A
Glaucoma 1, Open Angle, C
Glaucoma 1, Open Angle, D
Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, G
Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, J
Glaucoma 1, Open Angle, K
Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N
Glaucoma 1, Open Angle, O
Glaucoma 3, Primary Congenital, A
Glaucoma 3, Primary Congenital, D
Glaucoma 3, primary infantile, B
Glaucoma, Angle-Closure
Glaucoma, Open-Angle
Glaucoma, Primary Open Angle
Glaucoma-Related Pigment Dispersion Syndrome
Glioblastoma
Glioblastoma
Glioma
Gliosarcoma
Gliosis
Gliosis, Familial Progressive Subcortical
Globozoospermia
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulonephritis
Glomerulonephritis, IGA
Glomerulonephritis, Membranoproliferative
Glomerulonephritis, Membranous
Glomerulopathy with fibronectin deposits
Glomerulosclerosis, Focal Segmental
Glomus vagale tumors
Glucagonoma
Glucocorticoid Deficiency 2
Glucocorticoid Deficiency 3
Glucocorticoid-Remediable Aldosteronism
Glucose Intolerance
Glucose/Galactose Malabsorption
Glucosephosphate Dehydrogenase Deficiency
Glutamate formiminotransferase deficiency
Glutamine deficiency, congenital
Glutaric Aciduria III
Glutaric aciduria 1
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
Glutathione synthetase deficiency
Glutathionuria
Glycine N-Methyltransferase Deficiency
Glycinuria with or without Oxalate Urolithiasis
Glycogen Storage Disease
Glycogen Storage Disease 0, Liver
Glycogen Storage Disease 0, Muscle
Glycogen Storage Disease IB
Glycogen Storage Disease IC
Glycogen Storage Disease IXB
Glycogen Storage Disease IXC
Glycogen Storage Disease Type I
Glycogen Storage Disease Type II
Glycogen Storage Disease Type III
Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type V
Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VII
Glycogen Storage Disease XII
Glycogen Storage Disease XIII
Glycogen Storage Disease XIV
Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease, Type IXD
Glycosuria, Renal
Glycosylphosphatidylinositol deficiency
Goiter
Goiter, Multinodular 2
Goiter, Multinodular 3
Goldberg-Shprintzen megacolon syndrome
Goldenhar Syndrome
Gonadal Dysgenesis
Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XY
Gonadal dysgenesis XX type deafness
Gout
Gout, HPRT-Related
Gracile bone dysplasia
Graft Occlusion, Vascular
Graft vs Host Disease
Granuloma, Foreign-Body
Granuloma, Plasma Cell
Granuloma, Respiratory Tract
Granulomatous Disease, Chronic
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, X-Linked
Granulosa Cell Tumor
Graves Disease
Graves Ophthalmopathy
Gray Platelet Syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Groenouw type I corneal dystrophy
Growth Disorders
Growth Hormone-Secreting Pituitary Adenoma
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth mental deficiency syndrome of Myhre
Guanidinoacetate methyltransferase deficiency
Gynecomastia
HBV Infection
HCMV Infection
HCV
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOPHILIA A
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION
HEPATIC LIPASE DEFICIENCY
HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 5, AUTOSOMAL
HEV
HFE GENE
HHH syndrome
HID Syndrome
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 4
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
HIGH DENSITY LIPOPROTEIN DEFICIENCY 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
HIV
HIV Infection
HIV Infections
HIV Seropositivity
HIV Wasting Syndrome
HIV-1
HIV-Associated Lipodystrophy Syndrome
HMG CoA lyase deficiency
HOLOPROSENCEPHALY 11
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HPS3 GENE
HPS5 GENE
HPV Infection
HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2
HYDATIDIFORM MOLE, RECURRENT, 1
HYDROLETHALUS SYNDROME 2
HYPERALDOSTERONISM, FAMILIAL, TYPE III
HYPERALPHALIPOPROTEINEMIA 1
HYPERCHLORHIDROSIS, ISOLATED
HYPERCHOLESTEROLEMIA, FAMILIAL
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
HYPEROXALURIA, PRIMARY, TYPE III
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2
HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOMAGNESEMIA 6, RENAL
HYPOMELANOSIS OF ITO
HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
HYPOTRICHOSIS 3
Hair Diseases
Hairy Ears, Y-Linked
Hajdu-Cheney Syndrome
Hallermann's Syndrome
Hamartoma
Hamartoma Syndrome, Multiple
Hand Deformities, Congenital
Hand foot uterus syndrome
Hand, Foot and Mouth Disease
Harlequin type ichthyosis
Hartnup Disease
Hashimoto Disease
Hawkinsinuria
Hay-Wells syndrome
Head and Neck Neoplasms
Headache
Hearing Disorders
Hearing Loss
Hearing Loss, Conductive
Hearing Loss, Noise-Induced
Hearing Loss, Sensorineural
Hearing Loss, Sudden
Heart Arrest
Heart Block
Heart Defects, Congenital
Heart Diseases
Heart Failure
Heart Injuries
Heart Rupture, Post-Infarction
Heart Septal Defects
Heart Septal Defects, Atrial
Heart Septal Defects, Ventricular
Heart Valve Diseases
Heart-hand syndrome, Slovenian type
Heartburn
Heat Stress Disorders
Hecht syndrome
Heinz Body Anemias
Helicobacter Infections
Helplessness, Learned
Hemangioblastoma
Hemangioendothelioma, Epithelioid
Hemangioma
Hemangioma, Cavernous, Central Nervous System
Hemangioma, capillary infantile
Hemangiosarcoma
Hematologic Diseases
Hematologic Neoplasms
Hematoma
Hematoma, Epidural, Spinal
Hematoma, Subdural
Hematoma, Subdural, Acute
Hematuria
Hematuria, Benign Familial
Hemihyperplasia, Isolated
Hemiplegia
Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 2
Hemochromatosis
Hemochromatosis, Type 2A
Hemochromatosis, Type 2B
Hemochromatosis, type 3
Hemochromatosis, type 4
Hemoglobinopathies
Hemoglobinuria, Paroxysmal
Hemolysis
Hemolytic-Uremic Syndrome
Hemophagocytic Lymphohistiocytosis, Familial, 5
Hemophagocytic lymphohistiocytosis, familial, 2
Hemophagocytic lymphohistiocytosis, familial, 3
Hemophagocytic lymphohistiocytosis, familial, 4
Hemophilia A
Hemophilia B
Hemorrhage
Hemorrhagic Disorders
Hemorrhoids
Hennekam lymphangiectasia lymphedema syndrome
Heparin Cofactor II Deficiency
Hepatic Adenomas, Familial
Hepatic Encephalopathy
Hepatic Veno-Occlusive Disease
Hepatic venoocclusive disease with immunodeficiency
Hepatitis
Hepatitis B
Hepatitis B, Chronic
Hepatitis C
Hepatitis C, Chronic
Hepatitis, Alcoholic
Hepatitis, Animal
Hepatitis, Autoimmune
Hepatitis, Chronic
Hepatoblastoma
Hepatolenticular Degeneration
Hepatomegaly
Hepatorenal Syndrome
Hereditary Angioedema Type III
Hereditary Angioedema Types I and II
Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Motor And Sensory Neuropathy VI
Hereditary Motor And Sensory Neuropathy, Type IIC
Hereditary Myopathy with Early Respiratory Failure
Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Motor Neuropathy
Hereditary areflexic dystasia
Hereditary bundle branch system defect
Hereditary cerebral amyloid angiopathy, Icelandic type
Hereditary macular coloboma
Hereditary pancreatitis
Hereditary renal agenesis
Hereditary spastic paralysis, infantile onset ascending
Heredodegenerative Disorders, Nervous System
Hermansky Pudlak syndrome 2
Hernia, Diaphragmatic
Hernia, Inguinal
Hernia, Umbilical
Hernia, Ventral
Heroin Dependence
Herpesviridae Infections
Heterotaxy Syndrome
Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, visceral, X-linked
Heterotopia, Periventricular, Associated With Chromosome 5q Deletion
Heterotopia, Periventricular, Autosomal Recessive
Heterotopia, Periventricular, Ehlers-Danlos Variant
Heterotopia, Periventricular, associated with Chromosome 5p Anomalies
Hidradenitis Suppurativa
Hidradenitis suppurativa, familial
Hip Dysplasia, Beukes Type
Hip Fractures
Hirschsprung Disease
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung disease 1
Hirsutism
Histidinemia
Histiocytic medullary reticulosis
Histiocytoma, Angiomatoid Fibrous
Histiocytoma, Benign Fibrous
Histiocytosis
Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis, Sinus
Hodgkin Disease
Hodgkin disease, X-linked pseudoautosomal
Holocarboxylase Synthetase Deficiency
Holoprosencephaly
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Holoprosencephaly 6
Holoprosencephaly 7
Holoprosencephaly 8
Holoprosencephaly 9
Holt-Oram syndrome
Homocarnosinosis
Homocystinuria
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type
Homozygous 11p15-p14 Deletion Syndrome
Hoyeraal Hreidarsson syndrome
Huntington Disease
Huntington Disease-Like 1
Huntington Disease-Like 2
Huntington Disease-Like 3
Hurler's syndrome
Hurler-Scheie syndrome
Hutchinson Gilford progeria syndrome
Hyalinosis, Systemic
Hyaloideoretinal degeneration of Wagner
Hyaluronidase Deficiency
Hydatidiform Mole
Hydrocephalus
Hydrocephalus, Agyria, And Retinal Dysplasia
Hydrocephalus, X-linked
Hydrolethalus Syndrome 1
Hydrolethalus syndrome
Hydronephrosis
Hydrops Fetalis
Hydroxyacyl-coa dehydrogenase, type 2, deficiency
Hydroxykynureninuria
Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
Hyper-IgM Immunodeficiency Syndrome, Type 1
Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant
Hyperaldosteronism
Hyperaldosteronism, Familial, Type II
Hyperalgesia
Hyperammonemia
Hyperandrogenism
Hyperargininemia
Hyperbilirubinemia
Hyperbilirubinemia, Transient Familial Neonatal
Hypercalcemia
Hypercalcemia, Idiopathic, of Infancy
Hypercalciuria
Hypercalciuria, Absorptive, 1
Hypercalciuria, Absorptive, 2
Hypercapnia
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Hypercholanemia, Familial
Hypercholesterolemia
Hypercholesterolemia, Autosomal Dominant, 3
Hypercholesterolemia, Autosomal Recessive
Hyperekplexia and Epilepsy
Hyperemia
Hypereosinophilic Syndrome
Hyperexplexia hereditary
Hyperferritinemia, hereditary, with congenital cataracts
Hypergammaglobulinemia
Hyperglycemia
Hyperglycerolemia
Hyperglycinemia, Nonketotic
Hyperhomocysteinemia
Hyperimmunoglobulin D with periodic fever
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 3
Hyperinsulinemic hypoglycemia, familial, 6
Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinism
Hyperkalemia
Hyperkeratosis lenticularis perstans
Hyperkeratosis, Epidermolytic
Hyperkinesis
Hyperlipidemia, Familial Combined
Hyperlipidemias
Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type II
Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type V
Hyperlipoproteinemias
Hyperlysinemias
Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase
Hypernatremia
Hyperostosis corticalis deformans juvenilis
Hyperostosis, Cortical, Congenital
Hyperoxaluria
Hyperoxia
Hyperparathyroidism
Hyperparathyroidism 1
Hyperparathyroidism 2
Hyperparathyroidism, Neonatal Severe Primary
Hyperparathyroidism, Secondary
Hyperphagia
Hyperphenylalaninemia with primapterinuria
Hyperphenylalaninemia, BH4-Deficient, B
Hyperphosphatasia with Mental Retardation
Hyperphosphatemia
Hyperpigmentation
Hyperpigmentation, Familial Progressive
Hyperplasia
Hyperprolactinemia
Hyperprolinemia
Hyperprolinemia type 2
Hypersensitivity
Hypersensitivity, Delayed
Hypersensitivity, Immediate
Hypersplenism
Hypertelorism
Hypertelorism with esophageal abnormality and hypospadias
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
Hypertension
Hypertension, Diastolic, Resistance to
Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
Hypertension, Essential
Hypertension, Malignant
Hypertension, Portal
Hypertension, Pregnancy-Induced
Hypertension, Pulmonary
Hypertension, Renal
Hypertension, Renovascular
Hypertensive Nephropathy
Hyperthyroidism
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Nonautoimmune
Hyperthyroxinemia
Hyperthyroxinemia, Familial Dysalbuminemic
Hypertrichosis
Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia
Hypertrichosis congenital generalized X-linked
Hypertriglyceridemia
Hypertrophy
Hypertrophy, Left Ventricular
Hypertrophy, Right Ventricular
Hypertyrosinemia, Richner-Hanhart type
Hyperuricemia
Hyperuricemic Nephropathy, Familial Juvenile 2
Hyperventilation
Hypoalbuminemia
Hypoaldosteronism
Hypoalphalipoproteinemias
Hypobetalipoproteinemia, Familial, 2
Hypobetalipoproteinemia, Familial, Apolipoprotein B
Hypocalcemia
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 2
Hypochondroplasia
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
Hypoglycemia
Hypoglycemia, leucine-induced
Hypogonadism
Hypogonadotropic hypogonadism
Hypokalemia
Hypokalemic Periodic Paralysis
Hypokalemic Periodic Paralysis, Type 2
Hypokinesia
Hypolipoproteinemias
Hypomagnesemia 1, Intestinal
Hypomagnesemia 2, renal
Hypomagnesemia 4, Renal
Hypomagnesemia 5, Renal, with Ocular Involvement
Hypomagnesemia primary
Hypomyelination, Global Cerebral
Hyponatremia
Hypoparathyroidism
Hypoparathyroidism familial isolated
Hypoparathyroidism, X-Linked
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypopharyngeal Neoplasms
Hypophosphatasia, Adult
Hypophosphatasia, Childhood
Hypophosphatasia, Infantile
Hypophosphatemia
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic Rickets with Hypercalciuria, Hereditary
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic Rickets, X-Linked Recessive
Hypopigmentation
Hypopituitarism
Hypopituitarism and septooptic 'dysplasia'
Hypoplastic Left Heart Syndrome
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Hypoproteinemia, Hypercatabolic
Hypoprothrombinemias
Hypospadias
Hypospadias 1, X-Linked
Hypospadias 2, X-Linked
Hypotension
Hypotension, Orthostatic
Hypothalamic hamartomas
Hypothermia
Hypothyroidism
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Congenital, Nongoitrous, 3
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Congenital, Nongoitrous, 5
Hypotonia-Cystinuria Syndrome
Hypotrichosis
Hypotrichosis And Recurrent Skin Vesicles
Hypotrichosis Simplex of Scalp
Hypotrichosis simplex
Hypotrichosis, Localized, Autosomal Recessive, 3
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hypouricemia, Renal, 2
Hypoventilation
Hypoxia, Brain
Hypoxia-Ischemia, Brain
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
IMMUNE RESPONSE TO SYNTHETIC POLYPEPTIDE--IRGAT
IMMUNE SUPPRESSION
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
INFANTILE CEREBELLAR-RETINAL DEGENERATION
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
INSULIN
IRAK4 Deficiency
Ichthyosiform erythroderma, Brocq congenital, nonbullous form
Ichthyosis
Ichthyosis Bullosa of Siemens
Ichthyosis Vulgaris
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis hystrix, Curth Macklin type
Ichthyosis prematurity syndrome
Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Lamellar
Ichthyosis, Lamellar, 5
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, X-Linked
Idiopathic Pulmonary Fibrosis
Idiopathic basal ganglia calcification 1
Idiopathic dilation cardiomyopathy
IgA Deficiency
Ige Responsiveness, Atopic
Ileitis
Imerslund-Grasbeck syndrome
Iminoglycinuria
Immune Complex Diseases
Immune System Diseases
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in MAPBP-Interacting Protein
Immunodeficiency syndrome, variable
Immunodeficiency without anhidrotic ectodermal dysplasia
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
Immunoglobulin a deficiency 1
Immunoglobulin a deficiency 2
Immunologic Deficiency Syndromes
Impulse Control Disorders
Inappropriate ADH Syndrome
Inclusion Body Myopathy 3, Autosomal Dominant
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
Inclusion body myopathy autosomal recessive
Inclusion body myopathy, autosomal dominant
Incontinentia Pigmenti
Incontinentia pigmenti, familial male-lethal type
Indifference to Pain, Congenital, Autosomal Recessive
Infant, Premature, Diseases
Infantile Neuroaxonal Dystrophy
Infantile convulsions and paroxysmal choreoathetosis, familial
Infantile onset spinocerebellar ataxia
Infarction
Infarction, Middle Cerebral Artery
Infection
Infertility
Infertility, Female
Infertility, Male
Inflammation
Inflammatory Bowel Disease 10
Inflammatory Bowel Disease 12
Inflammatory Bowel Disease 13
Inflammatory Bowel Disease 14
Inflammatory Bowel Disease 15
Inflammatory Bowel Disease 16
Inflammatory Bowel Disease 17
Inflammatory Bowel Disease 18
Inflammatory Bowel Disease 19
Inflammatory Bowel Disease 2
Inflammatory Bowel Disease 20
Inflammatory Bowel Disease 21
Inflammatory Bowel Disease 22
Inflammatory Bowel Disease 23
Inflammatory Bowel Disease 24
Inflammatory Bowel Disease 25, Autosomal Recessive
Inflammatory Bowel Disease 26
Inflammatory Bowel Disease 27
Inflammatory Bowel Disease 28, Autosomal Recessive
Inflammatory Bowel Disease 3
Inflammatory Bowel Disease 4
Inflammatory Bowel Disease 5
Inflammatory Bowel Disease 6
Inflammatory Bowel Disease 7
Inflammatory Bowel Disease 8
Inflammatory Bowel Disease 9
Inflammatory Bowel Diseases
Inflammatory Breast Neoplasms
Influenza in Birds
Influenza, Human
Inherited Peripheral Neuropathy
Inosine Triphosphatase Deficiency
Insomnia, Fatal Familial
Insulin Resistance
Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I, Resistance To
Insulinoma
Intellectual Disability
Interleukin 2 Receptor, Alpha, Deficiency of
Interstitial Pneumonitis, Desquamative, Familial
Intervertebral Disc Degeneration
Intervertebral Disc Displacement
Intervertebral Disk
Intervertebral disc disease
Intestinal Diseases
Intestinal Neoplasms
Intestinal Perforation
Intestinal Polyposis
Intestinal Polyps
Intracranial Aneurysm
Intracranial Arteriovenous Malformations
Intracranial Embolism and Thrombosis
Intracranial Hemorrhage, Traumatic
Intracranial Hemorrhages
Intracranial Hypertension
Intracranial Thrombosis
Intrinsic Factor Deficiency
Invasive Pneumococcal Disease, Recurrent Isolated, 1
Invasive Pneumococcal Disease, Recurrent Isolated, 2
Iridogoniodysgenesis type1
Iridogoniodysgenesis, dominant type
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris hypoplasia and glaucoma
Iron Metabolism Disorders
Iron Overload
Iron-Refractory Iron Deficiency Anemia
Irritable Bowel Syndrome
Isaacs Syndrome
Ischemia
Ischemic Attack, Transient
Ischemic Preconditioning
Ischiopatellar dysplasia
Isobutyryl-CoA dehydrogenase deficiency
Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type II
JALILI SYNDROME
JOUBERT SYNDROME 16
Jackson-Weiss syndrome
Jacobs syndrome
Jacobsen Distal 11q Deletion Syndrome
Jankovic Rivera syndrome
Jansen type metaphyseal chondrodysplasia
Jarcho-Levin syndrome
Jaundice, Chronic Idiopathic
Jaundice, Obstructive
Jaw Abnormalities
Jensen syndrome
Jervell And Lange-Nielsen Syndrome 2
Jervell-Lange Nielsen Syndrome
Jeune syndrome
Job's Syndrome
Johanson Blizzard syndrome
Joint Diseases
Joint Instability
Joubert Syndrome 10
Joubert Syndrome 7
Joubert Syndrome 8
Joubert Syndrome 9
Joubert syndrome 1
Joubert syndrome 2
Joubert syndrome 3
Joubert syndrome 4
Joubert syndrome 5
Joubert syndrome 6
Juvenile Hyaline Fibromatosis
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia
Juvenile gout
Juvenile macular degeneration and hypotrichosis
Juvenile polyposis syndrome
Juvenile-onset dystonia
KALLMANN SYNDROME 2
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
Kabuki syndrome
Kallmann Syndrome
Kallmann Syndrome 1
Kallmann Syndrome 4
Kallmann Syndrome 5
Kallmann Syndrome 6
Kantaputra Gorlin syndrome
Kanzaki disease
Kappa-Chain Deficiency
Kartagener Syndrome
Kearns-Sayre Syndrome
Keloid
Kenny Caffey syndrome
Kenny-Caffey syndrome, Type 1
Keratitis
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
Keratitis, hereditary
Keratoacanthoma familial
Keratoconus
Keratoconus 1
Keratoconus 2
Keratoconus 3
Keratoconus 4
Keratoderma palmoplantar deafness
Keratoderma, Palmoplantar
Keratoderma, Palmoplantar, Epidermolytic
Keratolytic winter erythema
Keratomalacia
Keratosis
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
Keratosis Palmoplantaris Striata II
Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 3
Keratosis palmoplantaris with esophageal cancer
Keratosis palmoplantaris with periodontopathia and onychogryposis
Keratosis, Seborrheic
Kernicterus
Keutel syndrome
Kidney Calculi
Kidney Diseases
Kidney Diseases, Cystic
Kidney Failure, Acute
Kidney Failure, Chronic
Kidney Neoplasms
Kidney Tubular Necrosis, Acute
Kleefstra Syndrome
Klippel Feil syndrome dominant type
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Kniest dysplasia
Knobloch Syndrome Type II
Knobloch syndrome
Knuckle pads, leuconychia and sensorineural deafness
Korsakoff Syndrome
Kowarski syndrome
Krabbe Disease, Atypical, due to Saposin A Deficiency
Krause-Kivlin syndrome
Kugelberg-Welander disease
Kuzniecky syndrome
Kyphoscoliosis 1
Kyphosis
L-2-HYDROXYGLUTARIC ACIDURIA
LARSEN SYNDROME
LEBER CONGENITAL AMAUROSIS 15
LEBER CONGENITAL AMAUROSIS 16
LEBER CONGENITAL AMAUROSIS 7
LEBER CONGENITAL AMAUROSIS 8
LEFT VENTRICULAR NONCOMPACTION 2
LEFT-RIGHT DETERMINATION FACTOR 2
LEOPARD SYNDROME 3
LEOPARD Syndrome
LEOPARD syndrome, 1
LEOPARD syndrome, 2
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
LIG4 Syndrome
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
LIPOMATOSIS, MULTIPLE
LISSENCEPHALY, X-LINKED, 1
LIVER FAILURE, INFANTILE, TRANSIENT
LOEYS-DIETZ SYNDROME, TYPE 1A
LOEYS-DIETZ SYNDROME, TYPE 1C
LONG QT SYNDROME 13
LUTEINIZING HORMONE, BETA POLYPEPTIDE
LYMPHEDEMA, HEREDITARY, IC
LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
LYSOSOMAL ACID LIPASE DEFICIENCY
Lacrimal Apparatus Diseases
Lacrimoauriculodentodigital syndrome
Lactase Deficiency, Congenital
Lactate dehydrogenase deficiency type A
Lactose Intolerance, Adult Type
Lafora Disease
Lamellar ichthyosis, type 1
Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 3
Langer mesomelic dysplasia
Langer-Giedion Syndrome
Language Development Disorders
Laron Syndrome
Laron syndrome type 2
Larsen like syndrome, lethal type
Larsen syndrome, dominant type
Laryngeal Adductor Paralysis
Laryngeal Neoplasms
Laryngo onycho cutaneous syndrome
Lassa Fever
Late-Onset Retinal Degeneration
Lateral Medullary Syndrome
Laterality Defects, Autosomal Dominant
Lathosterolosis
Lattice corneal dystrophy type 1
Laurin-Sandrow syndrome
Lead Poisoning
Lead Poisoning, Nervous System
Learning Disorders
Leber Congenital Amaurosis
Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 13
Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 6
Lecithin Acyltransferase Deficiency
Legg-Calve-Perthes Disease
Legionnaires' Disease
Legius syndrome
Leigh Disease
Leigh Syndrome, X-Linked
Leigh syndrome , French Canadian type
Leiomyoma
Leiomyoma, Epithelioid
Leiomyomatosis and renal cell cancer, hereditary
Leiomyomatosis, esophageal and vulval, with nephropathy
Leiomyosarcoma
Leishmaniasis
Leishmaniasis, Cutaneous
Leishmaniasis, Mucocutaneous
Leishmaniasis, Visceral
Lens Diseases
Leprosy
Leri-Weil syndrome
Lesch-Nyhan Syndrome
Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Congenital Contractural Syndrome 3
Lethal Congenital Contracture Syndrome 2
Lethal congenital contracture syndrome 1
Lethargy
Leukemia
Leukemia, Acute
Leukemia, B-Cell
Leukemia, Biphenotypic, Acute
Leukemia, Erythroblastic, Acute
Leukemia, Lymphocytic, Chronic, B-Cell
Leukemia, Lymphoid
Leukemia, Megakaryoblastic, Acute
Leukemia, Monocytic, Acute
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Leukemia, Myeloid
Leukemia, Myeloid, Acute
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic-Phase
Leukemia, Myelomonocytic, Acute
Leukemia, Myelomonocytic, Juvenile
Leukemia, Promyelocytic, Acute
Leukemia, T-Cell
Leukemia, lymphoblastic, Acute
Leukemia, lymphoblastic, Chronic
Leukemia-Lymphoma, Adult T-Cell
Leukocyte Adhesion Deficiency, Type III
Leukocyte Disorders
Leukocyte adhesion deficiency type 1
Leukocyte-Adhesion Deficiency Syndrome
Leukocytosis
Leukodystrophy, Globoid Cell
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Metachromatic
Leukoencephalopathies
Leukoencephalopathy With Metaphyseal Chondrodysplasia
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy, Cystic, Without Megalencephaly
Leukokeratosis, Hereditary Mucosal
Leukonychia totalis
Leukopenia
Leukoplakia, Oral
Leukostasis
Lewy Body Disease
Leydig Cell Hypoplasia, Type I
Leydig Cell Tumor
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 2
Lichen Planus, Oral
Lichenoid Eruptions
Liddle Syndrome
Limb Deformities, Congenital
Limb-Girdle Muscular Dystrophy, Type 1G
Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy, type 1B
Limb-girdle muscular dystrophy, type 2B
Limb-girdle muscular dystrophy, type 2C
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy, type 2E
Limb-mammary syndrome
Linitis Plastica
Lipase deficiency combined
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Lipodystrophy
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Familial Partial
Lipodystrophy, Partial, Acquired
Lipoid Proteinosis of Urbach and Wiethe
Lipoid congenital adrenal hyperplasia
Lipoma
Lipomatosis
Lipoprotein Glomerulopathy
Liposarcoma
Liposarcoma, Myxoid
Lissencephaly
Lissencephaly 3
Lissencephaly, X-Linked, 2
Listeriosis
Lithiasis
Liver Cirrhosis
Liver Cirrhosis, Alcoholic
Liver Cirrhosis, Biliary
Liver Cirrhosis, Experimental
Liver Diseases
Liver Diseases, Alcoholic
Liver Diseases, Parasitic
Liver Failure
Liver Failure, Acute
Liver Neoplasms
Liver Neoplasms, Experimental
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome, Type 1b
Loeys-Dietz Syndrome, Type 2A
Long QT Syndrome
Long QT syndrome type 3
Long Qt Syndrome 10
Long Qt Syndrome 11
Long Qt Syndrome 12
Long Qt Syndrome 2
Long Qt Syndrome 3
Long Qt Syndrome 5
Long Qt Syndrome 6
Long Qt Syndrome 9
Loose Anagen Hair Syndrome
Low Back Pain
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Lower Extremity Deformities, Congenital
Lubs X-linked mental retardation syndrome
Lujan Fryns syndrome
Lung Diseases
Lung Diseases, Interstitial
Lung Diseases, Obstructive
Lung Injury
Lung Neoplasms
Lupus Erythematosus, Systemic
Lupus Nephritis
Lupus Vulgaris
Lymphangioleiomyomatosis
Lymphatic Abnormalities
Lymphatic Metastasis
Lymphedema
Lymphedema distichiasis syndrome
Lymphedema, Hereditary, IB
Lymphedema, Hereditary, II
Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphoblastic Leukemia, Acute, with Lymphomatous Features
Lymphoma
Lymphoma, AIDS-Related
Lymphoma, B-Cell
Lymphoma, Extranodal NK-T-Cell
Lymphoma, Follicular
Lymphoma, Large B-Cell, Diffuse
Lymphoma, Large-Cell, Anaplastic
Lymphoma, Mantle-Cell
Lymphoma, Non-Hodgkin
Lymphoma, Primary Effusion
Lymphoma, T-Cell
Lymphoma, T-Cell, Cutaneous
Lymphopenia
Lymphoproliferative Disorders
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1
Lymphoproliferative Syndrome, X-Linked, 1
Lynch Syndrome II
Lynch syndrome I (site-specific colonic cancer)
Lysinuric Protein Intolerance
Lysosomal acid lipase deficiency
MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME
MACULAR DYSTROPHY, RETINAL, 3
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5
MAMMARY-DIGITAL-NAIL SYNDROME
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome
MASP2 Deficiency
MASS syndrome
MAST Syndrome
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11
MECKEL SYNDROME, TYPE 10
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
MEHMO syndrome
MEIER-GORLIN SYNDROME 2
MEIER-GORLIN SYNDROME 3
MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 5
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 4
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 7
MELAS Syndrome
MENTAL HEALTH WELLNESS 1
MENTAL HEALTH WELLNESS 2
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 8
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS
MENTAL RETARDATION, X-LINKED 49
MENTAL RETARDATION, X-LINKED 88
MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE
MERRF Syndrome
METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7
MIGRAINE, FAMILIAL TYPICAL, SUSCEPTIBILITY TO, 2
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
MIRROR MOVEMENTS 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MODY, Type 6
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
MORM syndrome
MOYAMOYA DISEASE 5
MUCOPOLYSACCHARIDOSIS TYPE II
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 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
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED
MYD88 Deficiency
MYELODYSPLASTIC SYNDROME
MYELOID TUMOR SUPPRESSOR
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
MYOPATHY, CENTRONUCLEAR, 3
MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, TATEYAMA TYPE
MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPIA 21, AUTOSOMAL DOMINANT
MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
Machado-Joseph Disease
Macrocephaly
Macrocephaly Autism Syndrome
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrophthalmia, Colobomatous, with Microcornea
Macrostomia
Macrothrombocytopenia progressive deafness
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macular Degeneration
Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 10
Macular Degeneration, Age-Related, 11
Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 3
Macular Degeneration, Age-Related, 4
Macular Degeneration, Age-Related, 6
Macular Degeneration, Age-Related, 7
Macular Degeneration, Age-Related, 9
Macular Degeneration, Polymorphic Vitelline
Macular Dystrophy, Retinal, 2
Macular Edema
Macular dystrophy, atypical vitelliform
Macular dystrophy, concentric annular
Macular dystrophy, corneal type 1
Macular dystrophy, retinal, 1, North Carolina type
Magnesium Deficiency
Mainzer-Saldino Disease
Majeed syndrome
Major Affective Disorder 1
Major Affective Disorder 2
Major Affective Disorder 3
Major Affective Disorder 4
Major Affective Disorder 5
Major Affective Disorder 6
Major Affective Disorder 7
Major Affective Disorder 8
Major Affective Disorder 9
Malabsorption Syndromes
Malaria
Malaria, Falciparum
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa
Male Pseudohermaphroditism due to Deficiency of Testicular 17,20-Desmolase
Malformations of Cortical Development
Malignant Hyperthermia
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 2
Malignant hyperthermia susceptibility type 3
Malignant hyperthermia susceptibility type 4
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 6
Malignant neoplasm breast
Malignant neoplasm of bladder
Malignant neoplasm of ovary
Malignant neoplasm of prostate
Malnutrition
Malonic aciduria
Malouf syndrome
Malpuech facial clefting syndrome
Mammary Neoplasms, Animal
Mammary Neoplasms, Experimental
Mandibular Diseases
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial Dysostosis
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Manganese Poisoning
Maple Syrup Urine Disease
Marden Walker like syndrome
Marek Disease
Marfan Syndrome
Marie Unna congenital hypotrichosis
Marijuana Abuse
Marles Greenberg Persaud syndrome
Marsden syndrome
Marshall syndrome
Martin-Probst Deafness-Mental Retardation Syndrome
Martinez-Frias Syndrome
Martsolf syndrome
Mason-Type Diabetes
Massive Hepatic Necrosis
Mastitis
Mastocytosis
Mastocytosis, Systemic
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-Onset Diabetes of the Young, Type 1
Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3
Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction
Maxillary Diseases
Maxillofacial Abnormalities
May-Hegglin anomaly
McCune-Albright Syndrome
McKusick Kaufman syndrome
McLeod Syndrome
Meacham Syndrome
Meacham Winn Culler syndrome
Measles
Meckel Syndrome, Type 4
Meckel Syndrome, Type 5
Meckel Syndrome, Type 6
Meckel syndrome type 1
Meckel syndrome type 2
Meckel syndrome type 3
Medium chain acyl CoA dehydrogenase deficiency
Medullary Cystic Kidney Disease 2
Medullary cystic kidney disease 1
Medulloblastoma
Megacolon
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly cutis marmorata telangiectatica congenita
Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
Megalocornea
Megalocytic interstitial nephritis
Meier-Gorlin syndrome
Melanoma
Melanoma astrocytoma syndrome
Melanoma, Amelanotic
Melanoma, Experimental
Melanoma-Pancreatic Cancer Syndrome
Melkersson-Rosenthal Syndrome
Melnick-Needles syndrome
Melorheostosis
Memory Disorders
Meningioma
Meningioma, familial
Meningism
Meningitis
Meningitis, Aseptic
Meningitis, Meningococcal
Meningococcal Infections
Meningoencephalitis
Meningomyelocele
Menkes Kinky Hair Syndrome
Mental Disorders
Mental Disorders Diagnosed in Childhood
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
Mental Retardation, Autosomal Dominant 1
Mental Retardation, Autosomal Dominant 3
Mental Retardation, Autosomal Dominant 4
Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Recessive 1
Mental Retardation, Autosomal Recessive 10
Mental Retardation, Autosomal Recessive 11
Mental Retardation, Autosomal Recessive 12
Mental Retardation, Autosomal Recessive 13
Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 3
Mental Retardation, Autosomal Recessive 4
Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Recessive 6
Mental Retardation, Autosomal Recessive 7
Mental Retardation, Autosomal Recessive 8
Mental Retardation, Autosomal Recessive 9
Mental Retardation, Fra12a Type
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
Mental Retardation, X-Linked
Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 17
Mental Retardation, X-Linked 19
Mental Retardation, X-Linked 2
Mental Retardation, X-Linked 20
Mental Retardation, X-Linked 21
Mental Retardation, X-Linked 23
Mental Retardation, X-Linked 3
Mental Retardation, X-Linked 30
Mental Retardation, X-Linked 42
Mental Retardation, X-Linked 45
Mental Retardation, X-Linked 46
Mental Retardation, X-Linked 50
Mental Retardation, X-Linked 52
Mental Retardation, X-Linked 53
Mental Retardation, X-Linked 58
Mental Retardation, X-Linked 59
Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 72
Mental Retardation, X-Linked 73
Mental Retardation, X-Linked 77
Mental Retardation, X-Linked 78
Mental Retardation, X-Linked 81
Mental Retardation, X-Linked 82
Mental Retardation, X-Linked 84
Mental Retardation, X-Linked 89
Mental Retardation, X-Linked 9
Mental Retardation, X-Linked 91
Mental Retardation, X-Linked 93
Mental Retardation, X-Linked 94
Mental Retardation, X-Linked 95
Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
Mental Retardation, X-Linked, Syndromic 10
Mental Retardation, X-Linked, Syndromic 12
Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 14
Mental Retardation, X-Linked, Syndromic, Christianson Type
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, With Brachydactyly And Macroglossia
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related
Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, with Epilepsy
Mental Retardation, X-Linked, with Short Stature
Mental retardation X-linked syndromic 7
Mental retardation, X-linked 14
Mental retardation, X-linked, syndromic 5
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Mental retardation-hypotonic facies syndrome, x-linked, 1
Mercury Poisoning
Meretoja syndrome
Mesangial sclerosis, diffuse
Mesenteric Vascular Occlusion
Mesomelia-synostoses syndrome
Mesothelioma
Mesothelioma, Malignant
Metabolic Diseases
Metabolic Syndrome X
Metabolism, Inborn Errors
Metacarpal 4 5 Fusion
Metachondromatosis
Metachromatic Leukodystrophy due to Saposin B Deficiency
Metaphyseal Anadysplasia 2
Metaphyseal Dysplasia without Hypotrichosis
Metaphyseal chondrodysplasia Schmid type
Metaplasia
Metatropic dwarfism
Methemoglobinemia
Methemoglobinemia Type IV
Methionine Adenosyltransferase Deficiency
Methylcobalamin Deficiency, CblG Type
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic Aciduria and Homocystinuria, CblD Type
Methylmalonic Aciduria and Homocystinuria, CblF Type
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic acidemia
Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria cblA type
Methylmalonic aciduria cblB type
Methylmalonyl-CoA Epimerase Deficiency
Mevalonate Kinase Deficiency
Mevalonic aciduria
Microcephalic Osteodysplastic Primordial Dwarfism, Type II
Microcephaly
Microcephaly with Mental Retardation and Digital Anomalies
Microcephaly, Primary Autosomal Recessive, 1
Microcephaly, Primary Autosomal Recessive, 3
Microcephaly, Primary Autosomal Recessive, 4
Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 7
Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism
Microcoria, congenital
Microhydranencephaly
Micronuclei, Chromosome-Defective
Microphthalmia, Isolated 1
Microphthalmia, Isolated 2
Microphthalmia, Isolated 3
Microphthalmia, Isolated 4
Microphthalmia, Isolated, with Cataract 1
Microphthalmia, Isolated, with Cataract 2
Microphthalmia, Isolated, with Cataract 4
Microphthalmia, Isolated, with Coloboma 1
Microphthalmia, Isolated, with Coloboma 2
Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Isolated, with Coloboma 5
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 4
Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 6
Microphthalmia, syndromic 1
Microphthalmia, syndromic 2
Microphthalmia, syndromic 7
Microphthalmos
Micropolygyria with Muscular Dystrophy
Microsatellite Instability
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia, Hearing Impairment, And Cleft Palate
Microvascular Angina
Microvillus inclusion disease
Migraine Disorders
Migraine with Aura
Migraine without Aura
Migraine, Familial Hemiplegic, 3
Miles-Carpenter x-linked mental retardation syndrome
Milroy's Disease
Minicore Myopathy with External Ophthalmoplegia
Miosis
Mitochondrial Complex II Deficiency
Mitochondrial Complex III Deficiency
Mitochondrial Diseases
Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Mitochondrial Phosphate Carrier Deficiency
Mitochondrial complex I deficiency
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitral Valve Prolapse
Mitral Valve Prolapse, Myxomatous 2
Mitral Valve Prolapse, Myxomatous 3
Mixed Tumor, Mullerian
Miyoshi Muscular Dystrophy 3
Miyoshi myopathy
Moebius syndrome 1
Mohr-Tranebjaerg syndrome
Molybdenum cofactor deficiency
Monilethrix
Mood Disorders
Morphine Dependence
Mosaic variegated aneuploidy syndrome
Motor Neuron Disease
Motor Skills Disorders
Mouth Abnormalities
Mouth Diseases
Mouth Neoplasms
Movement Disorders
Mowat-Wilson syndrome
Moyamoya Disease
Moyamoya disease 1
Moyamoya disease 2
Moyamoya disease 3
Muckle-Wells syndrome
Mucocutaneous Lymph Node Syndrome
Mucolipidoses
Mucolipidosis II Alpha Beta
Mucolipidosis III Gamma
Mucolipidosis Type IV
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IVB
Mucopolysaccharidosis V
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Mucopolysaccharidosis, MPS-III-C
Mucopolysaccharidosis, MPS-III-D
Mucopolysaccharidosis, MPS-IV-A
Mucositis
Muenke Syndrome
Muir-Torre Syndrome
Mulibrey Nanism
Mullerian Aplasia and Hyperandrogenism
Multicystic renal dysplasia, bilateral
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Multiple Endocrine Neoplasia, Type IV
Multiple Myeloma
Multiple Organ Failure
Multiple Sclerosis
Multiple Sclerosis, Relapsing-Remitting
Multiple Sulfatase Deficiency Disease
Multiple Synostoses Syndrome 3
Multiple pterygium syndrome
Multiple synostoses syndrome 1
Multiple synostoses syndrome 2
Mungan Syndrome
Muscle Hypertonia
Muscle Hypotonia
Muscle Rigidity
Muscle Spasticity
Muscle Weakness
Muscular Atrophy
Muscular Atrophy, Spinal
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Dystrophy, Congenital, 1B
Muscular Dystrophy, Congenital, 1C
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular Dystrophy, Congenital, Lmna-Related
Muscular Dystrophy, Congenital, Type 1D
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Limb-Girdle, Type 1C
Muscular Dystrophy, Limb-Girdle, Type 1E
Muscular Dystrophy, Limb-Girdle, Type 1F
Muscular Dystrophy, Limb-Girdle, Type 2G
Muscular Dystrophy, Limb-Girdle, Type 2I
Muscular Dystrophy, Limb-Girdle, Type 2J
Muscular Dystrophy, Limb-Girdle, Type 2K
Muscular Dystrophy, Limb-Girdle, Type 2L
Muscular Dystrophy, Limb-Girdle, Type 2M
Muscular Dystrophy, Oculopharyngeal
Muscular dystrophy congenital, merosin negative
Muscular dystrophy, limb-girdle, type 1A
Musculoskeletal Abnormalities
Myasthenia Gravis
Myasthenia Gravis with Thymus Hyperplasia
Myasthenia, Familial Infantile, 1
Myasthenia, Limb-Girdle, with Tubular Aggregates
Myasthenic Syndrome, Congenital, Fast-Channel
Myasthenic Syndromes, Congenital
Myasthenic syndrome, congenital, postsynaptic slow-channel
Myasthenic syndrome, congenital, type Id
Mycobacterial disease, Mendelian susceptibility to
Mycobacterium Infections
Mycobacterium Infections, Nontuberculous
Mycoplasma Infections
Mycosis Fungoides
Myelodysplastic Syndromes
Myelodysplastic-Myeloproliferative Diseases
Myelofibrosis
Myeloperoxidase Deficiency
Myeloproliferative Disorder, Chronic, with Eosinophilia
Myeloproliferative Disorders
Myeloproliferative Syndrome, Transient
Myocardial Infarction
Myocardial Ischemia
Myocardial Reperfusion Injury
Myocardial Stunning
Myocarditis
Myocardium
Myoclonic Epilepsies, Progressive
Myoclonic Epilepsy, Juvenile
Myoclonic dystonia
Myoclonus
Myocytes, Cardiac
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myopathies, Structural, Congenital
Myopathy with Lactic Acidosis, Hereditary
Myopathy with lactic acidosis and sideroblastic anemia
Myopathy, Central Core
Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Recessive
Myopathy, Congenital, Compton-North
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Distal 2
Myopathy, Distal, with Anterior Tibial Onset
Myopathy, Early-Onset, with Fatal Cardiomyopathy
Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
Myopathy, Myofibrillar, Bag3-Related
Myopathy, Myofibrillar, Desmin-Related
Myopathy, Myofibrillar, Zasp-Related
Myopathy, Myosin Storage
Myopathy, Reducing Body, X-Linked, Childhood-Onset
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
Myopathy, X-Linked, With Postural Muscle Atrophy
Myopathy, X-Linked, with Excessive Autophagy
Myopia
Myopia 1
Myopia 10
Myopia 11
Myopia 12
Myopia 13
Myopia 14
Myopia 15
Myopia 16
Myopia 2
Myopia 3
Myopia 5
Myopia 6
Myopia 7
Myopia 8
Myopia 9
Myosclerosis, Autosomal Recessive
Myositis
Myositis Ossificans
Myositis, Inclusion Body
Myostatin-related muscle hypertrophy
Myotilinopathy
Myotonia
Myotonia Congenita
Myotonia Congenita, Autosomal Recessive
Myotonia congenita
Myotonic Dystrophy
Myotubular myopathy, X-linked
N syndrome
N-acetyl glutamate synthetase deficiency
NADH cytochrome B5 reductase deficiency
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NARCOLEPSY 7
NBIA2B
NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO
NEPHRONOPHTHISIS 11
NEPHRONOPHTHISIS 12
NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 9
NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
NEPHROTIC SYNDROME, TYPE 3
NEPHROTIC SYNDROME, TYPE 4
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NESTOR-GUILLERMO PROGERIA SYNDROME
NEURAL RETINA LEUCINE ZIPPER
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
NEUROPATHY, HEREDITARY SENSORY, TYPE IE
NIEMANN-PICK DISEASE, TYPE C1
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B
NIMA (never in mitosis gene a)-related kinase 1
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
NOONAN SYNDROME 7
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
NOVELTY SEEKING PERSONALITY TRAIT
NYSTAGMUS 6, CONGENITAL, X-LINKED
Naegeli syndrome
Nail Diseases
Nail dysplasia, isolated congenital
Nail-Patella Syndrome
Nance Sweeney chondrodysplasia
Nance-Horan syndrome
Nanophthalmos 1
Nanophthalmos 2
Nanophthalmos 3
Narcolepsy
Narcolepsy 1
Nasal Obstruction
Nasal Polyps
Nasopharyngeal Neoplasms
Nasopharyngeal carcinoma
Natural Killer Cell Deficiency, Familial Isolated
Nausea
Navajo neurohepatopathy
Naxos disease
Necrosis
Neisseriaceae Infections
Nemaline Myopathy 2
Nemaline Myopathy 7
Nemaline myopathy 1
Nemaline myopathy 3
Nemaline myopathy 4
Nemaline myopathy 5
Nemaline myopathy 6
Neointima
Neonatal adrenoleukodystrophy
Neonatal-onset citrullinemia type 2
Neoplasm Invasiveness
Neoplasm Metastasis
Neoplasm Recurrence, Local
Neoplasm, Residual
Neoplasms
Neoplasms, Experimental
Neoplasms, Germ Cell and Embryonal
Neoplasms, Glandular and Epithelial
Neoplasms, Mesothelial
Neoplasms, Radiation-Induced
Neoplasms, Second Primary
Neoplasms, Squamous Cell
Neovascularization, Pathologic
Nephritis
Nephritis, Hereditary
Nephritis, Interstitial
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Nephrocalcinosis
Nephrogenic Fibrosing Dermopathy
Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrolithiasis, X-Linked Recessive, with Renal Failure
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2
Nephronophthisis 2
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis 7
Nephronophthisis, familial juvenile
Nephropathic cystinosis
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Nephropathy, Progressive, with Deafness
Nephrosclerosis
Nephrosis
Nephrosis, Lipoid
Nephrosis, congenital
Nephrotic Syndrome
Nephrotic syndrome, idiopathic, steroid-resistant
Nerve Degeneration
Nerve Sheath Neoplasms
Nervous System Diseases
Nervous System Malformations
Netherton Syndrome
Neural Tube Defects
Neural tube defect, folate-sensitive
Neuralgia
Neuralgia, Postherpetic
Neuraminidase 1 deficiency
Neuraminidase deficiency with beta-galactosidase deficiency
Neurilemmoma
Neuritis with brachial predilection
Neuroacanthocytosis
Neuroaxonal Dystrophies
Neurobehavioral Manifestations
Neuroblastoma
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration with brain iron accumulation (NBIA)
Neurodegenerative Diseases
Neuroectodermal Tumors
Neuroectodermal Tumors, Primitive
Neuroectodermal Tumors, Primitive, Peripheral
Neuroendocrine Tumors
Neuroferritinopathy
Neurofibromatoses
Neurofibromatosis 1
Neurofibromatosis 2
Neurofibromatosis, Familial Spinal
Neurofibromatosis-Noonan syndrome
Neurofibrosarcoma
Neurogenic Inflammation
Neurologic Manifestations
Neuroma, Acoustic
Neuromuscular Diseases
Neuromuscular Manifestations
Neuromyelitis Optica
Neuronal Ceroid-Lipofuscinoses
Neuronal Migration Disorders
Neuronopathy, Distal Hereditary Motor, Type IIB
Neuronopathy, Distal Hereditary Motor, Type V
Neuronopathy, Distal Hereditary Motor, Type Viib
Neuropathy ataxia and retinis pigmentosa
Neuropathy, Distal Hereditary Motor, Type IIA
Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIB
Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
Neuropathy, hereditary motor and sensory, LOM type
Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Russe type
Neurotoxicity Syndromes
Neutral Lipid Storage Disease with Myopathy
Neutropenia
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 2
Neutropenia, Severe Congenital, Autosomal Recessive 4
Neutropenia, Severe Congenital, X-Linked
Neutrophil Chemotactic Response
Neutrophil Immunodeficiency Syndrome
Neutrophilia, Hereditary
Nevi and Melanomas
Nevo syndrome
Nevus
Nevus, Epidermal
Nevus, Pigmented
Nevus, Sebaceous of Jadassohn
Newfoundland Rod-Cone Dystrophy
Nicolaides Baraitser syndrome
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type B
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Niemann-Pick disease, type C2
Night Blindness
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Night blindness, congenital stationary
Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome-Like Disorder
No-Reflow Phenomenon
Nocturnal Enuresis
Non-alcoholic Fatty Liver Disease
Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1
Noninsulin-dependent diabetes mellitus with deafness
Nonmedullary thyroid carcinoma, with or without cell oxyphilia
Noonan Syndrome
Noonan Syndrome 2
Noonan Syndrome 4
Noonan Syndrome 5
Noonan Syndrome 6
Noonan syndrome 3
Norman Roberts lissencephaly syndrome
Norrie disease
North American Indian Childhood Cirrhosis
Nose Neoplasms
Nystagmus 1, congenital, X- linked
Nystagmus 2, congenital, autosomal dominant
Nystagmus 3, congenital, autosomal dominant
Nystagmus 4, congenital, autosomal dominant
Nystagmus 5, Infantile Periodic Alternating
Nystagmus, Pathologic
O'Donnell Pappas syndrome
OCCULT MACULAR DYSTROPHY
OGDEN SYNDROME
OGUCHI DISEASE 2
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ORNITHINE AMINOTRANSFERASE
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIODIGITAL SYNDROME I
OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
Obesity
Obesity, Abdominal
Obesity, Hyperphagia, and Developmental Delay
Obesity, Morbid
Obsessive-Compulsive Disorder
Obstetric Labor, Premature
Occipital horn syndrome
Occupational Diseases
Ocular Albinism type 1
Ocular Hypertension
Oculoauricular Syndrome
Oculocerebrorenal Syndrome
Oculocutaneous Albinism, Type IV
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculodentodigital Dysplasia
Oculodentodigital Dysplasia, Autosomal Recessive
Oculodigitoesophagoduodenal syndrome
Oculomaxillofacial dysostosis
Oculootoradial syndrome
Oculopalatoskeletal syndrome
Odontogenic Tumors
Odontoonychodermal dysplasia
Oguchi disease
Olfaction Disorders
Oligodendroglioma
Oligodontia-Colorectal Cancer Syndrome
Oligomenorrhea
Oligospermia
Oliguria
Olmsted syndrome
Omodysplasia type 1
Oncocytoma, renal
Ophthalmoplegia
Ophthalmoplegia, Chronic Progressive External
Ophthalmoplegia, External, and Myopia
Opioid-Related Disorders
Opisthorchiasis
Opitz GBBB Syndrome, X-Linked
Opitz trigonocephaly syndrome
Opitz-Kaveggia syndrome
Opsismodysplasia
Opsoclonus-Myoclonus Syndrome
Optic Atrophies, Hereditary
Optic Atrophy
Optic Atrophy 4
Optic Atrophy 7
Optic Atrophy, Autosomal Dominant
Optic Atrophy, Hereditary, Leber
Optic Nerve Diseases
Optic Nerve Hypoplasia, Bilateral
Optic Neuropathy, Ischemic
Optic atrophy 1 and deafness
Optic atrophy 5
Optic atrophy 6
Optic atrophy and cataract, autosomal dominant
Optic atrophy polyneuropathy deafness
Optic atrophy, X-linked
Oral Submucous Fibrosis
Oral Ulcer
Organophosphate Poisoning
Ornithine Carbamoyltransferase Deficiency Disease
Ornithine aminotransferase deficiency
Orofacial Cleft 1
Orofacial Cleft 10
Orofacial Cleft 11
Orofacial Cleft 12
Orofacial Cleft 2
Orofacial Cleft 3
Orofacial Cleft 4
Orofacial Cleft 5
Orofacial Cleft 9
Orofaciodigital syndrome type1
Orofaciodigital syndrome, Shashi type
Oroticaciduria 1
Orthostatic Hypotensive Disorder, Streeten Type
Orthostatic Intolerance
Osler-rendu-weber syndrome 2
Osler-rendu-weber syndrome 3
Osseous Heteroplasia, Progressive
Ossification of the posterior longitudinal ligament of the spine
Ossification, Heterotopic
Osteitis Deformans
Osteoarthritis
Osteoarthritis with Mild Chondrodysplasia
Osteoarthropathy, Primary Hypertrophic
Osteochondritis Dissecans
Osteochondrodysplasias
Osteochondroma
Osteogenesis Imperfecta
Osteogenesis Imperfecta Type VII
Osteogenesis Imperfecta, Type IX
Osteogenesis imperfecta, Levin type
Osteogenesis imperfecta, type 2A
Osteogenesis imperfecta, type 3
Osteogenesis imperfecta, type 4
Osteogenesis imperfecta, type 7
Osteogenesis imperfecta, type VIII
Osteoglophonic dwarfism
Osteolysis
Osteolysis hereditary multicentric
Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
Osteomalacia
Osteonecrosis
Osteopathia striata cranial sclerosis
Osteopetrosis
Osteopetrosis autosomal dominant type 1
Osteopetrosis with renal tubular acidosis
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, mild autosomal recessive form
Osteoporosis
Osteoporosis, Postmenopausal
Osteoporosis-pseudoglioma syndrome
Osteosarcoma
Osteosarcoma
Osteosclerosis
Otitis Media
Oto-Palato-digital syndrome type 1
Oto-palato-digital syndrome, type 2
Otofaciocervical Syndrome
Otosclerosis
Otosclerosis 2
Otosclerosis 3
Otosclerosis 4
Otosclerosis 5
Otosclerosis 7
Otosclerosis 8
Ovarian Cysts
Ovarian Diseases
Ovarian Dysgenesis 2
Ovarian Hyperstimulation Syndrome
Ovarian Neoplasms
Ovarian epithelial cancer
Ovary Syndrome
Overweight
PACHYONYCHIA CONGENITA, TYPE 1
PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
PARAGANGLIOMAS 5
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 17
PARKINSON DISEASE 18
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
PARKINSON DISEASE, LATE-ONSET
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA
PERICENTRIN
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PFEIFFER SYNDROME
PHOTOPAROXYSMAL RESPONSE 2
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL
POLYCYSTIC KIDNEY DISEASE 1
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PORENCEPHALY 2
PREECLAMPSIA/ECLAMPSIA 5
PREMATURE CHROMATID SEPARATION TRAIT
PROSTATE CANCER, HEREDITARY, X-LINKED 1
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
PRRSV Infection
PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE
PSEUDOHYPOALDOSTERONISM, TYPE IID
PSEUDOHYPOALDOSTERONISM, TYPE IIE
PSEUDOHYPOPARATHYROIDISM, TYPE IA
PSORIASIS SUSCEPTIBILITY 13
PSORIASIS SUSCEPTIBILITY 2
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
PULMONARY FUNCTION
PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO
PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
Pachyonychia Congenita
Pachyonychia congenita Jackson Lawler type
Pain
Pain, Intractable
Pain, Postoperative
Paine syndrome
Pallidopyramidal syndrome
Pallister-Hall Syndrome
Palmoplantar Keratoderma, Nonepidermolytic
Palmoplantar Keratoderma, Nonepidermolytic, Focal
Pancreatic Agenesis, Congenital
Pancreatic Diseases
Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease
Pancreatic Neoplasms
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Pancreatic cancer, adult
Pancreatitis
Pancreatitis, Chronic
Pancytopenia
Panhypopituitarism X-linked
Panic Disorder
Panniculitis, Nodular Nonsuppurative
Pantothenate Kinase-Associated Neurodegeneration
Papilary thyroid carcinoma
Papilloma
Papilloma, Choroid Plexus
Papillomavirus Infections
Papillon-Lefevre Disease
Papillorenal syndrome
Paraganglioma
Paragangliomas 2
Paragangliomas 4
Paralysis
Paralysis, Hyperkalemic Periodic
Paramyotonia congenita of Von Eulenburg
Paranoid Disorders
Paraparesis, Spastic
Paraplegia
Parapsoriasis
Parastremmatic dwarfism
Parathyroid Neoplasms
Paratuberculosis
Paresis
Paresthesia
Parietal Foramina
Parietal Foramina 2
Parietal Foramina 3
Parietal Foramina With Cleidocranial Dysplasia
Parkinson Disease
Parkinson Disease 10
Parkinson Disease 11
Parkinson Disease 12
Parkinson Disease 16
Parkinson Disease 3, Autosomal Dominant Lewy Body
Parkinson Disease 4, Autosomal Dominant Lewy Body
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease, Secondary
Parkinson disease 9
Parkinson disease, juvenile, autosomal recessive
Parkinsonian Disorders
Parkinsonism, early onset with mental retardation
Parkinsonism-Dystonia, Infantile
Paroxysmal Extreme Pain Disorder
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal nonkinesigenic dyskinesia
Paroxysmal ventricular fibrillation
Partington X-linked mental retardation syndrome
Pasteurellaceae Infections
Patau Syndrome
Patterned dystrophy of retinal pigment epithelium
Peanut Hypersensitivity
Peeling Skin Syndrome
Peeling skin syndrome, acral type
Pelger-Huet Anomaly
Peliosis Hepatis
Pelizaeus-Merzbacher Disease
Pelvic Organ Prolapse
Pelviscapular dysplasia
Pemphigoid, Benign Mucous Membrane
Pemphigoid, Bullous
Pemphigus
Pemphigus, Benign Familial
Pena Shokeir syndrome, type 1
Pendred syndrome
Penile Diseases
Penile Induration
Penile Neoplasms
Pentalogy of Cantrell
Pentosuria
Peptic Ulcer
Peptic Ulcer Hemorrhage
Periapical Periodontitis
Pericardial Effusion
Pericarditis
Periodic fever, familial, autosomal dominant
Periodontal Diseases
Periodontitis
Periodontitis, Aggressive, 2
Peripheral Arterial Occlusive Disease 1
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Nervous System Diseases
Peripheral Vascular Diseases
Perisylvian syndrome
Peritoneal Fibrosis
Peritonitis
Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal Disorders
Peroxisome biogenesis disorders
Perry Syndrome
Persian Gulf Syndrome
Persistent Fetal Circulation Syndrome
Persistent Mullerian duct syndrome
Personality Disorders
Peters anomaly
Peutz-Jeghers Syndrome
Pfeiffer type acrocephalosyndactyly
Phagocyte Bactericidal Dysfunction
Pharyngeal Neoplasms
Phencyclidine Abuse
Phenylketonurias
Pheochromocytoma
Phobia, Specific
Phobic Disorders
Phosphoenolpyruvate carboxykinase 2 deficiency
Phosphoenolpyruvate carboxykinase deficiency
Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Kinase 1 Deficiency
Phosphoribosylpyrophosphate Synthetase Superactivity
Phosphoserine Aminotransferase Deficiency
Photogenic epilepsy
Photoparoxysmal Response 3
Phyllodes Tumor of the Prostate
Pick Disease of the Brain
Piebaldism
Pierre Robin Syndrome
Pierre Robin syndrome with fetal chondrodysplasia
Pierson syndrome
Pigmentary Disorder, Reticulate, with Systemic Manifestations
Pigmentation Disorders
Pigmented Nodular Adrenocortical Disease, Primary, 1
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented Paravenous Chorioretinal Atrophy
Pilomatrixoma
Pineal hyperplasia AND diabetes mellitus syndrome
Pitt-Hopkins syndrome
Pituitary ACTH Hypersecretion
Pituitary Adenomas
Pituitary Apoplexy
Pituitary Diseases
Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 2
Pituitary Hormone Deficiency, Combined, 4
Pituitary Neoplasms
Pituitary dwarfism 1
Pityriasis Rubra Pilaris
Placenta Diseases
Plagiocephaly, Nonsynostotic
Plaque, Amyloid
Plaque, Atherosclerotic
Plasma Cell Granuloma, Pulmonary
Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Deficiency, Type I
Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Glycoprotein IV Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pleural Diseases
Pleurisy
Pleuropulmonary blastoma
Pneumococcal Infections
Pneumoconiosis
Pneumonia
Pneumonia, Aspiration
Pneumonia, Pneumococcal
Pneumonia, Viral
Pneumothorax
Pneumothorax, Primary Spontaneous
Poikiloderma of Kindler
Poikiloderma with Neutropenia
Poisoning
Poliomyelitis
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Recessive
Polycystic Ovary Syndrome
Polycystic kidney disease, type 2
Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycystic liver disease
Polycythemia
Polycythemia Vera
Polycythemia, primary familial and congenital
Polydactyly
Polydactyly, Postaxial
Polydactyly, Postaxial, Type A2
Polydactyly, Postaxial, Type A3
Polydactyly, Postaxial, Type A4
Polydactyly, preaxial 4
Polyendocrinopathies, Autoimmune
Polyglandular autoimmune syndrome type I
Polyglucosan Body Disease, Adult Form
Polyhydramnios
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Asymmetric
Polymicrogyria, Bilateral Frontoparietal
Polymicrogyria, Bilateral Occipital
Polymorphic catecholergic ventricular tachycardia
Polymyositis
Polyneuropathies
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyostotic osteolytic dysplasia, hereditary expansile
Polyposis Syndrome, Hereditary Mixed, 1
Polyposis Syndrome, Hereditary Mixed, 2
Polyps
Polyuria
Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2B
Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 3
Pontocerebellar Hypoplasia Type 6
Popliteal Pterygium Syndrome
Popliteal Pterygium Syndrome, Lethal Type
Porokeratosis punctata palmaris et plantaris
Porokeratosis, Disseminated Superficial Actinic, 3
Porokeratosis, Disseminated Superficial Actinic, 4
Porokeratosis, disseminated superficial actinic 1
Porphyria Cutanea Tarda
Porphyria, Acute Hepatic
Porphyria, Acute Intermittent
Porphyria, Erythropoietic
Porphyria, South African type
Porphyria, Variegate
Porphyrias
Porphyrias, Hepatic
Port-Wine Stain
Posterior column ataxia with retinitis pigmentosa
Postoperative Complications
Potassium aggravated myotonia
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Prader-Willi Syndrome
Pre-Eclampsia
Preauricular Fistulae, Congenital
Preaxial deficiency, postaxial polydactyly and hypospadias
Precancerous Conditions
Precocious Puberty, Central
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Preeclampsia Eclampsia 4
Pregnancy Complications
Pregnancy Complications, Cardiovascular
Pregnancy, Ectopic
Prekallikrein Deficiency
Premature Birth
Premature Ovarian Failure 2a
Premature Ovarian Failure 2b
Premature Ovarian Failure 3
Premature Ovarian Failure 5
Premature Ovarian Failure 6
Premature Ovarian Failure 7
Prenatal Exposure Delayed Effects
Prenatal Injuries
Presbycusis 2
Presentey Anomaly
Prieto X-linked mental retardation syndrome
Primary Lateral Sclerosis, Adult, 1
Primary Myelofibrosis
Primary Ovarian Insufficiency
Primary ciliary dyskinesia, 2
Primary ciliary dyskinesia, 3
Primary ciliary dyskinesia, 4
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary idiopathic dilated cardiomyopathy
Primary lateral sclerosis juvenile
Primary sclerosing cholangitis
Prion Diseases
Progeria
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
Progressive Familial Heart Block, Type Ib
Progressive hearing loss stapes fixation
Progressive supranuclear palsy atypical
Prolactinoma
Prolidase Deficiency
Prolonged Electroretinal Response Suppression
Proopiomelanocortin Deficiency
Properdin deficiency, X-linked
Propionic Acidemia
Propping Zerres syndrome
Proprotein Convertase 1 3 Deficiency
Prostate Cancer, Hereditary, 10
Prostate Cancer, Hereditary, 11
Prostate Cancer, Hereditary, 12
Prostate Cancer, Hereditary, 13
Prostate Cancer, Hereditary, 14
Prostate Cancer, Hereditary, 15
Prostate Cancer, Hereditary, 3
Prostate Cancer, Hereditary, 4
Prostate Cancer, Hereditary, 5
Prostate Cancer, Hereditary, 6
Prostate Cancer, Hereditary, 7
Prostate Cancer, Hereditary, 8
Prostate Cancer, Hereditary, 9
Prostate Cancer, Hereditary, X-Linked 2
Prostate Neoplasms
Prostate cancer, familial
Prostatic Diseases
Prostatic Hyperplasia
Prostatic Intraepithelial Neoplasia
Prostatic Neoplasms
Prostatitis
Protein C Deficiency
Protein Deficiency
Protein-Losing Enteropathies
Proteinuria
Proteus Syndrome
Protoporphyria, Erythropoietic
Protoporphyria, Erythropoietic, X-Linked Dominant
Proud Syndrome
Pruritus
Pseudo-Hurler polydystrophy
Pseudoachondroplasia
Pseudocholinesterase deficiency
Pseudofolliculitis Barbae
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohypoaldosteronism
Pseudohypoaldosteronism, Type IIb
Pseudohypoparathyroidism
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism Type 1C
Pseudomonas Infections
Pseudopseudohypoparathyroidism
Pseudovaginal perineoscrotal hypospadias
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
Psoriasis
Psychomotor Agitation
Psychomotor Disorders
Psychoses, Substance-Induced
Psychotic Disorders
Pterygium
Ptosis, Hereditary Congenital 1
Ptosis, Hereditary Congenital 2
Puberty, Delayed
Puberty, Precocious
Puerperal Disorders
Pulmonary Alveolar Microlithiasis
Pulmonary Disease, Chronic Obstructive
Pulmonary Edema
Pulmonary Embolism
Pulmonary Emphysema
Pulmonary Fibrosis
Pulmonary Veno-Occlusive Disease
Pulmonary arterial hypertension
Purine Nucleoside Phosphorylase Deficiency
Purine-Pyrimidine Metabolism, Inborn Errors
Purpura Fulminans
Purpura, Schoenlein-Henoch
Purpura, Thrombocytopenic, Idiopathic
Purpura, Thrombotic Thrombocytopenic
Pycnodysostosis
Pyloric Stenosis, Infantile Hypertrophic 1
Pyloric Stenosis, Infantile Hypertrophic, 2
Pyloric Stenosis, Infantile Hypertrophic, 3
Pyloric Stenosis, Infantile Hypertrophic, 4
Pyloric Stenosis, Infantile Hypertrophic, 5
Pyogenic arthritis, pyoderma gangrenosum, and acne
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Pyridoxine-dependent epilepsy
Pyropoikilocytosis, Hereditary
Pyruvate Carboxylase Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase E1-Beta Deficiency
Pyruvate Dehydrogenase E2 Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Kinase Deficiency of Red Cells
Pyruvate Metabolism, Inborn Errors
Pyruvate dehydrogenase phosphatase deficiency
QT INTERVAL, VARIATION IN
Quadriplegia
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
RAJAB SYNDROME
RENAL CELL CARCINOMA, NONPAPILLARY
RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO
RETINAL DYSPLASIA, PRIMARY
RETINITIS PIGMENTOSA 38
RETINITIS PIGMENTOSA 39
RETINITIS PIGMENTOSA 40
RETINITIS PIGMENTOSA 43
RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 45
RETINITIS PIGMENTOSA 48
RETINITIS PIGMENTOSA 49
RETINITIS PIGMENTOSA 51
RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 55
RETINITIS PIGMENTOSA 56
RETINITIS PIGMENTOSA 57
RETINITIS PIGMENTOSA 58
RETINITIS PIGMENTOSA 59
RETINITIS PIGMENTOSA 60
RETINITIS PIGMENTOSA 61
RETINITIS PIGMENTOSA 62
RETINOSCHISIN
RETT SYNDROME, CONGENITAL VARIANT
RNA Virus Infections
Radial Ray Deficiency, X-Linked
Radiation Injuries
Radiation Injuries, Experimental
Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
Radiation induced meningioma
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Ragweed Sensitivity
Raine syndrome
Rapadilino syndrome
Rapp-Hodgkin syndrome
Raynaud Disease
Recessive dystrophic epidermolysis bullosa
Rectal Neoplasms
Recurrence
Reed's syndrome
Reflex, Abnormal
Reflex, Babinski
Refractive Errors
Refsum Disease
Refsum Disease, Infantile
Reifenstein syndrome
Renal Adysplasia
Renal Failure, Progressive, with Hypertension
Renal Hypodysplasia, Nonsyndromic, 1
Renal Insufficiency
Renal Tubular Acidosis, Distal, With Hemolytic Anemia
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal cysts and diabetes syndrome
Renal hepatic pancreatic dysplasia Dandy Walker cyst
Renal hypouricemia
Renal tubular acidosis, distal, autosomal recessive
Renal-Hepatic-Pancreatic Dysplasia
Renpenning syndrome 1
Reperfusion Injury
Respiration Disorders
Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Newborn
Respiratory Hypersensitivity
Respiratory Insufficiency
Respiratory Sounds
Respiratory Syncytial Virus Infections
Respiratory System Abnormalities
Respiratory Tract Diseases
Respiratory Tract Infections
Restless Legs Syndrome
Reticular dysgenesis
Reticulocytosis
Reticuloendotheliosis, familial, with eosinophilia
Retinal Cone Dystrophy 1
Retinal Cone Dystrophy 3A
Retinal Cone Dystrophy 3B
Retinal Cone Dystrophy 4
Retinal Degeneration
Retinal Detachment
Retinal Diseases
Retinal Dystrophies
Retinal Neovascularization
Retinal Nonattachment, Nonsyndromic Congenital
Retinal Telangiectasis
Retinal Vein Occlusion
Retinal cone dystrophy 2
Retinitis
Retinitis Pigmentosa
Retinitis Pigmentosa 10
Retinitis Pigmentosa 11
Retinitis Pigmentosa 12
Retinitis Pigmentosa 13
Retinitis Pigmentosa 14
Retinitis Pigmentosa 17
Retinitis Pigmentosa 18
Retinitis Pigmentosa 19
Retinitis Pigmentosa 2
Retinitis Pigmentosa 20
Retinitis Pigmentosa 25
Retinitis Pigmentosa 26
Retinitis Pigmentosa 27
Retinitis Pigmentosa 29
Retinitis Pigmentosa 3
Retinitis Pigmentosa 30
Retinitis Pigmentosa 31
Retinitis Pigmentosa 32
Retinitis Pigmentosa 33
Retinitis Pigmentosa 34
Retinitis Pigmentosa 35
Retinitis Pigmentosa 36
Retinitis Pigmentosa 37
Retinitis Pigmentosa 4
Retinitis Pigmentosa 41
Retinitis Pigmentosa 42
Retinitis Pigmentosa 46
Retinitis Pigmentosa 6
Retinitis Pigmentosa 7
Retinitis Pigmentosa 9
Retinitis Pigmentosa, Concentric
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Retinitis Pigmentosa, Y-Linked
Retinitis pigmentosa 1
Retinoblastoma
Retinoblastoma Protein
Retinopathy of Prematurity
Retinoschisis
Retrognathia
Rett Syndrome
Revesz Debuse syndrome
Reynold's syndrome
Rh-Null, Regulator Type
Rhabdoid Tumor Predisposition Syndrome 1
Rhabdoid Tumor Predisposition Syndrome 2
Rhabdomyolysis
Rhabdomyoma
Rhabdomyosarcoma
Rhabdomyosarcoma, Alveolar
Rhabdomyosarcoma, Embryonal
Rhinitis
Rhinitis, Allergic, Perennial
Rhizomelic chondrodysplasia punctata, type 1
Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 3
Ribose 5-Phosphate Isomerase Deficiency
Rickets
Riddle Syndrome
Rieger syndrome 2
Rigid spine syndrome
Ring dermoid of cornea
Rippling muscle disease
Rippling muscle disease, 1
Roberts Syndrome
Robinow Syndrome, Autosomal Dominant
Robinow syndrome, autosomal recessive
Roifman syndrome
Roifman-Chitayat Syndrome
Rokitansky Kuster Hauser syndrome
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked
Romano-Ward Syndrome
Rosselli-Gulienetti Syndrome
Rothmund-Thomson Syndrome
Rubinstein-Taybi Syndrome
Rufous oculocutaneous albinism
SARS Virus
SCHIZOPHRENIA 15
SCLEROSTEOSIS 2
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 2
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 4
SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 5
SECKEL SYNDROME 5
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE D...
SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO
SHORT RIB-POLYDACTYLY SYNDROME, TYPE V
SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
SIV Infection
SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
SPATIAL VISUALIZATION, APTITUDE FOR
SPECIFIC LANGUAGE IMPAIRMENT 1
SPECIFIC LANGUAGE IMPAIRMENT 2
SPECIFIC LANGUAGE IMPAIRMENT 3
SPECTRIN, BETA, ERYTHROCYTIC
SPERMATOGENIC FAILURE 8
SPINAL MUSCULAR ATROPHY, SCAPULOPERONEAL
SPINOCEREBELLAR ATAXIA 5
SPINOCEREBELLAR ATAXIA 6
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 2
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 3
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
STIMULATORY G PROTEIN
STOMACH CARCINOMA
STUTTERING, FAMILIAL PERSISTENT 1
SULFOCYSTEINURIA
SUPERNUMERARY DER(22)t(8
SUPPRESSOR OF TUMORIGENICITY 3
SYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2
SYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3
Saccharopinuria
Sacral defect and anterior sacral meningocele
Sacroiliitis
Saethre-Chotzen Syndrome with Eyelid Anomalies
Saethre-Chotzen syndrome
Sagittal Sinus Thrombosis
Salivary Gland Adenoma, Pleomorphic
Salivary Gland Neoplasms
Salla disease
Salmonella Infections, Animal
Sandhoff Disease
Sarcoidosis
Sarcoidosis, Early-Onset
Sarcoma
Sarcoma family syndrome of Li and Fraumeni
Sarcoma, Alveolar Soft Part
Sarcoma, Ewing
Sarcoma, Ewing's
Sarcoma, Experimental
Sarcoma, Kaposi
Sarcoma, Synovial
Sarcopenia
Sarcosinemia
Scaphocephaly, Maxillary Retrusion, And Mental Retardation
Scapuloperoneal Myopathy, X-Linked Dominant
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal muscular dystrophy
Schimke immunoosseous dysplasia
Schindler disease, type 1
Schinzel-Giedion syndrome
Schistosomiasis
Schistosomiasis mansoni
Schizencephaly
Schizophrenia
Schizophrenia, Catatonic
Schizophrenia, Paranoid
Schmid-Fraccaro syndrome
Schneckenbecken dysplasia
Schnitzler Syndrome
Schopf-Schulz-Passarge Syndrome
Schwannomatosis
Schwartz-Jampel syndrome
Sciatic Neuropathy
Scimitar Syndrome
Scleroatonic muscular dystrophy
Scleroderma, Localized
Scleroderma, Systemic
Sclerosis
Sclerosteosis
Sclerotylosis
Scoliosis
Scott Syndrome
Scrapie
Scurvy
SeSAME syndrome
Sea-Blue Histiocyte Syndrome
Sebaceous Gland Neoplasms
Sebastian syndrome
Seborrhea-Like Dermatitis with Psoriasiform Elements
Seckel Syndrome 3
Seckel syndrome 1
Seckel syndrome 2
Segawa syndrome, autosomal recessive
Segmental glomerulosclerosis
Seizures
Seizures, Febrile
Seminoma
Senior Loken Syndrome
Senior-Loken Syndrome 3
Senior-Loken Syndrome 5
Senior-Loken Syndrome 6
Senior-Loken syndrome 4
Sensation Disorders
Sensorimotor neuropathy with ataxia, autosomal dominant
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepsis
Septo-Optic Dysplasia
Sertoli Cell-Only Syndrome
Sertoli cell-only syndrome, Y-linked
Serum Sickness
Severe Acute Respiratory Syndrome
Severe Combined Immunodeficiency
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency, X-linked
Severe combined immunodeficiency, atypical
Severe congenital neutropenia
Severe myoclonic epilepsy in infancy
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sexual Dysfunction, Physiological
Sexual Dysfunctions, Psychological
Sexual Infantilism
Sezary Syndrome
Shock
Shock, Cardiogenic
Shock, Hemorrhagic
Shock, Septic
Short QT Syndrome 1
Short QT Syndrome 2
Short QT Syndrome 3
Short Rib-Polydactyly Syndrome
Short Stature, Idiopathic, Autosomal
Short Stature, Idiopathic, X-Linked
Short chain Acyl CoA dehydrogenase deficiency
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Verma-Naumoff type
Shprintzen Golberg craniosynostosis
Shprintzen syndrome
Shwachman syndrome
Shy-Drager Syndrome
Sialic Acid Storage Disease
Sialic acid storage disease, severe infantile type
Sialorrhea
Sick Sinus Syndrome
Sick Sinus Syndrome 1, Autosomal Recessive
Sick Sinus Syndrome 2, Autosomal Dominant
Siderius X-linked mental retardation syndrome
Silicosis
Silver-Russell Syndrome
Simpson-Golabi-Behmel Syndrome, Type 2
Simpson-Golabi-Behmel syndrome
Single upper central incisor
Sinoatrial Block
Sinus Thrombosis, Intracranial
Sinusitis
Sitosterolemia
Situs Inversus
Sjogren's Syndrome
Sjogren-Larsson Syndrome
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skin Abnormalities
Skin Diseases
Skin Diseases, Vascular
Skin Fragility-Woolly Hair Syndrome
Skin Neoplasms
Skin Ulcer
Sleep Apnea Syndromes
Sleep Apnea, Obstructive
Sleep Deprivation
Sleep Disorders
Sleep Disorders, Circadian Rhythm
Sleep Initiation and Maintenance Disorders
Slowed Nerve Conduction Velocity, Autosomal Dominant
Small Cell Lung Carcinoma
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Smith-McCort Dysplasia
Smooth Muscle Tumor
Snowflake vitreoretinal degeneration
Snyder Robinson syndrome
Soft Tissue Neoplasms
Solitary Fibrous Tumors
Somatoform Disorders
Somatosensory Disorders
Sotos Syndrome
Spasm
Spasms, Infantile
Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 31, Autosomal Dominant
Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 34, X-Linked
Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant
Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia, Hereditary
Spastic Paraplegia, Optic Atrophy, and Neuropathy
Spastic Paraplegia-50, Autosomal Recessive
Spastic ataxia Charlevoix-Saguenay type
Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 11, autosomal recessive
Spastic paraplegia 12, autosomal dominant
Spastic paraplegia 13, autosomal dominant
Spastic paraplegia 14, autosomal recessive
Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 16, X-linked
Spastic paraplegia 17
Spastic paraplegia 19, autosomal dominant
Spastic paraplegia 2, X-linked
Spastic paraplegia 20, autosomal recessive
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25, autosomal recessive
Spastic paraplegia 26, autosomal recessive
Spastic paraplegia 29, autosomal dominant
Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 6, autosomal dominant
Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 9, autosomal dominant
Spastic paraplegia type 5A, recessive
Spastic paraplegia type 5B, recessive
Specific Granule Deficiency
Specific Language Impairment 4
Speech Disorders
Speech-Sound Disorder
Spermatogenic Failure 7
Spermatogenic Failure, Nonobstructive, Y-Linked
Spherocytosis, Hereditary
Spherocytosis, Type 1
Spherocytosis, Type 3
Spherocytosis, Type 4
Spherocytosis, Type 5
Spheroid body myopathy
Spina Bifida Cystica
Spinal Cord Compression
Spinal Cord Diseases
Spinal Cord Injuries
Spinal Curvatures
Spinal Dysraphism
Spinal Muscular Atrophies of Childhood
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive
Spinal Muscular Atrophy, Distal, X-Linked 3
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal muscular atrophy 4
Spinal muscular atrophy with respiratory distress 1
Spinal muscular atrophy, Jerash type
Spinocerebellar Ataxia 10
Spinocerebellar Ataxia 11
Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 31
Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia, Autosomal Recessive 9
Spinocerebellar Ataxia, X-Linked 1
Spinocerebellar Ataxia, X-Linked 5
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 19
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 30
Spinocerebellar ataxia 8
Spinocerebellar ataxia, X-linked, 2
Spinocerebellar ataxia, X-linked, 3
Spinocerebellar ataxia, X-linked, 4
Spinocerebellar ataxia, autosomal recessive 1
Spinocerebellar ataxia, autosomal recessive 3
Spinocerebellar ataxia, autosomal recessive 4
Spinocerebellar ataxia, autosomal recessive 5
Spinocerebellar ataxia, autosomal recessive 6
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
Splenic Diseases
Splenic Hypoplasia
Splenomegaly
Split hand foot deformity 1
Split-Hand Foot Malformation 2
Split-Hand/Foot Malformation 4
Split-Hand/Foot Malformation 5
Split-Hand/Foot Malformation 6
Split-Hand/Foot Malformation With Long Bone Deficiency 2
Split-Hand/Foot Malformation With Long Bone Deficiency 3
Split-Hand/Foot Malformation With Sensorineural Hearing Loss
Split-hand/foot malformation with long bone deficiency
Spondylitis, Ankylosing
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Spondylocarpotarsal synostosis
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
Spondylocostal Dysostosis 4, Autosomal Dominant
Spondylocostal dysostosis, autosomal recessive
Spondyloenchondrodysplasia
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, congenita
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia short ulna
Spongiform Encephalopathy with Neuropsychiatric Features
Stapes Ankylosis With Broad Thumb And Toes
Staphylococcal Infections
Stargardt disease 1
Stargardt disease 3
Stargardt disease 4
Starvation
Status Epilepticus
Steatocystoma Multiplex
Stereotypic Movement Disorder
Stevens-Johnson Syndrome
Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler syndrome, type 1
Stickler syndrome, type 2
Stickler syndrome, type 3
Stiff Skin Syndrome
Stocco dos Santos syndrome
Stomach Diseases
Stomach Neoplasms
Stomach Neoplasms
Stomach Ulcer
Stomatitis
Stomatognathic Diseases
Stomatognathic System Abnormalities
Strabismus
Striatal Degeneration, Autosomal Dominant
Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral degeneration infantile
Stroke
Strudwick syndrome
Stupor
Sturge-Weber Syndrome
Stuttering
Stuttering, Familial Persistent 2
Stuve-Wiedemann syndrome
Subarachnoid Hemorrhage
Substance Withdrawal Syndrome
Substance-Related Disorders
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Sucrase-isomaltase deficiency, congenital
Sudden Infant Death
Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sulfite oxidase deficiency
Sunburn
Superior Vena Cava Syndrome
Supranuclear Palsy, Progressive
Supranuclear Palsy, Progressive, 2
Supranuclear Palsy, Progressive, 3
Supratentorial Neoplasms
Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 2
Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 4
Sveinsson Chorioretinal Atrophy
Synapses
Syndactyly
Syndactyly Cenani Lenz type
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction
Syndactyly, Type I
Syndactyly, Type IV
Syndactyly, type 3
Syndactyly, type v
Synesthesia
Synovitis
Synovitis granulomatous with uveitis and cranial neuropathies
Synpolydactyly 1
Synpolydactyly 2
Synpolydactyly 3
Systemic carnitine deficiency
T cell immunodeficiency primary
T-cell immunodeficiency, congenital alopecia and nail dystrophy
TARP syndrome
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
THIOUREA TASTING
THREE M SYNDROME 1
THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 3
THROMBOCYTHEMIA, X-LINKED
THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
THYROID-STIMULATING HORMONE LEVEL QUANTITATIVE TRAIT LOCUS 1
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
THYROTROPIN-RELEASING HORMONE
TOBACCO ADDICTION, SUSCEPTIBILITY TO
TOOTH AGENESIS, SELECTIVE, 1
TRANSCOBALAMIN II
TRANSGLUTAMINASE 6
TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3
TREACHER COLLINS SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE
TRIGONOCEPHALY 2
TRIOSEPHOSPHATE ISOMERASE 1
TRITANOPIA
TUMOR SUPPRESSOR GENE ON CHROMOSOME 11
TYROSINEMIA, TYPE I
Tachycardia
Tachycardia, Sinus
Tachycardia, Ventricular
Tangier Disease
Tarsal carpal coalition syndrome
Taste Disorders
Tauopathies
Tay-Sachs Disease
Tay-Sachs Disease, AB Variant
Telangiectasia, Hereditary Benign
Telangiectasia, Hereditary Hemorrhagic
Telangiectasia, Hereditary Hemorrhagic, Type 4
Telomeric 22q13 monosomy syndrome
Temporal epilepsy, familial
Temtamy preaxial brachydactyly syndrome
Ter Haar syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
Testicular Diseases
Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 1
Testicular Microlithiasis
Testicular Neoplasms
Tetra-amelia autosomal recessive
Tetralogy of Fallot
Thanatophoric Dysplasia
Thanatophoric Dysplasia, Type I
Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 2
Thiamine Deficiency
Thiamine responsive megaloblastic anemia syndrome
Thiopurine S methyltranferase deficiency
Thoracic Diseases
Three M Syndrome 2
Thrombasthenia
Thrombocythemia, Essential
Thrombocytopenia
Thrombocytopenia 1
Thrombocytopenia 4
Thrombocytopenia Paris-Trousseau type
Thrombocytopenia chromosome breakage
Thrombocytopenia, Neonatal Alloimmune
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis
Thrombocytosis
Thromboembolism
Thrombophilia
Thrombophilia due to Activated Protein C Resistance
Thrombophilia due to Thrombomodulin Defect
Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive
Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, hereditary
Thrombosis
Thrombotic Microangiopathies
Thymoma, Familial
Thyroid Carcinoma, Nonmedullary 1
Thyroid Carcinoma, Papillary, With Papillary Renal Neoplasia
Thyroid Diseases
Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 2A
Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4
Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6
Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Selective Pituitary
Thyroid Neoplasms
Thyroid cancer, Hurthle cell
Thyroid cancer, anaplastic
Thyroid cancer, follicular
Thyroid cancer, medullary
Thyroid cancer, papillary
Thyroiditis, Autoimmune
Thyrotoxicosis
Tic Disorders
Tics
Tietz syndrome
Tight skin contracture syndrome, lethal
Timothy syndrome
Tinnitus
Tn Syndrome
Tobacco Use Disorder
Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations
Toenail Dystrophy, Isolated
Tomaculous neuropathy
Tongue Neoplasms
Tooth Abnormalities
Tooth Agenesis, Selective, 2
Tooth Agenesis, Selective, 3
Tooth Agenesis, Selective, 4
Tooth Agenesis, Selective, 5
Tooth Agenesis, Selective, 6
Tooth Agenesis, Selective, X-Linked, 1
Toothache
Torsades de Pointes
Torsion dystonia 7
Torticollis
Torticollis keloids cryptorchidism renal dysplasia
Total Hypotrichosis, Mari type
Tourette Syndrome
Townes-Brocks syndrome
Toxoplasma
Toxoplasmosis
Tracheoesophageal Fistula
Transaldolase Deficiency
Transient bullous dermolysis of the newborn
Translocation, Genetic
Transposition of Great Vessels
Transposition of the Great Arteries, Dextro-Looped 1
Trauma, Nervous System
Trehalase Deficiency
Tremor
Tremor hereditary essential, 1
Tremor hereditary essential, 2
Tricho-dento-osseous syndrome
Trichoepithelioma multiple familial
Trichoepithelioma, Multiple Familial, 2
Trichohepatoenteric Syndrome
Trichorhinophalangeal Syndrome, Type III
Trichorhinophalangeal syndrome type 2
Trichotillomania
Trichuriasis
Trifunctional Protein Deficiency
Triglyceride storage disease with impaired long-chain fatty acid oxidation
Trigonocephaly, Nonsyndromic
Trimethylaminuria
Triphalangeal thumb polysyndactyly syndrome
Trismus
Trophoblasts
Tropical Calcific Pancreatitis
Truncus Arteriosus, Persistent
Tuberculosis
Tuberculosis, Bovine
Tuberculosis, Pulmonary
Tuberous Sclerosis
Tuberous Sclerosis 1
Tuberous Sclerosis 2
Tukel syndrome
Tumor Lysis Syndrome
Tumoral Calcinosis, Hyperphosphatemic, Familial
Tumoral Calcinosis, Normophosphatemic, Familial
Turcot syndrome
Turner Syndrome
Type 1 Papillary Renal Cell Carcinoma
Tyrosine Kinase 2 Deficiency
Tyrosinemia type III
Tyrosinemias
UDPglucose-4-epimerase deficiency
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4
UROPORPHYRINOGEN DECARBOXYLASE
USHER SYNDROME, TYPE I
USHER SYNDROME, TYPE IID
USHER SYNDROME, TYPE IIIA
USHER SYNDROME, TYPE IIIB
UV-Sensitive Syndrome
Ulcer
Ulnar-mammary syndrome
Unconsciousness
Unverricht-Lundborg Syndrome
Uremia
Ureteral Neoplasms
Ureteral Obstruction
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Urinary Bladder Diseases
Urinary Bladder Neck Obstruction
Urinary Bladder Neoplasms
Urinary Bladder, Neurogenic
Urinary Bladder, Overactive
Urinary Retention
Urinary Tract Infections
Urination Disorders
Urocanase deficiency
Urofacial syndrome
Urogenital Abnormalities
Urogenital Neoplasms
Urolithiasis
Urologic Neoplasms
Urticaria
Usher Syndrome, Type ID
Usher Syndrome, Type IF
Usher Syndrome, Type IG
Usher Syndrome, Type IH
Usher Syndrome, Type IIA
Usher Syndromes
Usher syndrome, type 1B
Usher syndrome, type 1C
Usher syndrome, type 1D
Usher syndrome, type 1E
Usher syndrome, type 1F
Usher syndrome, type 2C
Uterine Cervical Neoplasms
Uterine Diseases
Uterine Neoplasms
Uveal melanoma
Uveitis
Uveomeningoencephalitic Syndrome
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
VAN DER WOUDE SYNDROME 1, MODIFIER OF
VATER association
VENTRICULAR SEPTAL DEFECT 1
VENTRICULAR SEPTAL DEFECT 3
VESICOURETERAL REFLUX 3
VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
VLCAD deficiency
Vacuolar Neuromyopathy
Vaginal Neoplasms
Van Buchem disease type 2
Van der Woude syndrome
Van der Woude syndrome 2
Varicose Veins
Vascular Calcification
Vascular Diseases
Vascular System Injuries
Vasculitis
Vasculopathy, Retinal, With Cerebral Leukodystrophy
Vasospasm, Intracranial
Venous Malformations, Multiple Cutaneous and Mucosal
Venous Thromboembolism
Venous Thrombosis
Ventricular Dysfunction
Ventricular Dysfunction, Left
Ventricular Dysfunction, Right
Ventricular Fibrillation
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular Outflow Obstruction
Ventricular Premature Complexes
Ventricular Remodeling
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Vertical talus, congenital
Vesico-Ureteral Reflux
Vesicoureteral Reflux 2
Vestibular Diseases
Vipoma
Viremia
Virus Diseases
Vision Disorders
Vitamin A Deficiency
Vitamin B 12 Deficiency
Vitamin D Deficiency
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D-Dependent Rickets, Type 2A
Vitamin E Deficiency
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2
Vitelliform Macular Dystrophy
Vitiligo
Vitreoretinochoroidopathy
Vitreoretinopathy, Proliferative
Vohwinkel Syndrome, Variant Form
Vohwinkel syndrome
Vomiting
Von Willebrand disease, platelet type
Vulvar Lichen Sclerosus
WAARDENBURG SYNDROME, TYPE 2E
WAARDENBURG SYNDROME, TYPE 3
WAGR Syndrome
WARBURG MICRO SYNDROME 3
WARSAW BREAKAGE SYNDROME
WEILL-MARCHESANI SYNDROME 1
WELANDER DISTAL MYOPATHY
WHIM syndrome
WOOLLY HAIR, AUTOSOMAL DOMINANT
Waardenburg Syndrome
Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2C
Waardenburg Syndrome, Type 2D
Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4c
Waardenburg syndrome type 2
Waardenburg syndrome type 2A
Waardenburg syndrome type 2B
Waardenburg syndrome, type 4
Waldenstrom Macroglobulinemia
Warburg Sjo Fledelius syndrome
Water Intoxication
Weaver syndrome
Weber-Cockayne syndrome
Wegener Granulomatosis
Weight Gain
Weight Loss
Weill-Marchesani Syndrome
Weill-Marchesani-Like Syndrome
Welander distal myopathy, Swedish type
Werdnig-Hoffmann Disease
Werner Syndrome
Wernicke Encephalopathy
West Nile Fever
Weyers acrofacial dysostosis
Williams Syndrome
Williams-Beuren Region Duplication Syndrome
Wilms Tumor
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
Wilms tumor and radial bilateral aplasia
Wilson-Turner X-linked mental retardation syndrome
Winkelman Bethge Pfeiffer syndrome
Wiskott-Aldrich Syndrome
Witkop syndrome
Wittwer syndrome
Wolcott-Rallison syndrome
Wolf-Hirschhorn Syndrome
Wolff-Parkinson-White Syndrome
Wolfram Syndrome
Wolfram-Like Syndrome, Autosomal Dominant
Woodhouse Sakati syndrome
Woods Black Norbury syndrome
Woolly hair, congenital
Worth syndrome
Wounds and Injuries
Wounds, Penetrating
Wrinkly skin syndrome
X-Linked Combined Immunodeficiency Diseases
X-linked adrenal hypoplasia congenita
X-linked mental retardation Gustavson type
X-linked periventricular heterotopia
X-linked sideroblastic anemia
XFE Progeroid Syndrome
XPA GENE
Xanthinuria, Type I
Xanthinuria, Type II
Xanthomatosis
Xanthomatosis, Cerebrotendinous
Xerocytosis, hereditary
Xeroderma Pigmentosum
Xeroderma Pigmentosum, Complementation Group B
Xeroderma Pigmentosum, Complementation Group C
Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group E
Xeroderma Pigmentosum, Complementation Group F
Xeroderma Pigmentosum, Complementation Group G
Xeroderma pigmentosum, variant type
Yellow Nail Syndrome
Yemenite deaf-blind hypopigmentation syndrome
Young McKeever Squier syndrome
ZINC IN BREAST MILK, REDUCED
ZINC, ELEVATED PLASMA
Zellweger Syndrome
Zimmerman Laband syndrome
Zlotogora-Ogur syndrome
Zunich neuroectodermal syndrome
Zygodactyly 1
alpha 1-Antitrypsin Deficiency
alpha-Mannosidosis
alpha-Thalassemia
antley-bixler syndrome
apert syndrome
beta-Mannosidosis
beta-Thalassemia
branchio oculo facial syndrome
clouston syndrome
dejerine-sottas disease
dhpr deficiency
glaucoma 1, open angle, B (adult-onset)
heterotaxy 2 (autosomal dominant)
human papilloma virus (type 18) integration site 1
hydroxysteroid (11-beta) dehydrogenase 2
osteogenesis imperfecta tarda
phosphorylase kinase, alpha 2 (liver)
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
spinal muscular atrophy type ii
succinic semialdehyde dehydrogenase deficiency
von Hippel-Lindau Disease
von Willebrand Disease, Type 1
von Willebrand Disease, Type 2
von Willebrand Disease, Type 3
Evidence
Experimental
Predicted
Both
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