Genetic diseases-A

• A-alphalipoprotein Neuropathy, see Tangier disease
• A-T, see Ataxia-telangiectasia
• AA, see Alopecia areata
• AAA, see Triple A syndrome
• AAA syndrome, see Triple A syndrome
• AADC deficiency, see Aromatic l-amino acid decarboxylase deficiency
• Aarskog syndrome, see Aarskog-Scott syndrome
• Aarskog-Scott syndrome
• AAS, see Aarskog-Scott syndrome
• AASA dehydrogenase deficiency, see Pyridoxine-dependent epilepsy
• Aase syndrome, see Diamond-Blackfan anemia
• Aase-Smith syndrome II, see Diamond-Blackfan anemia
• AAT, see Alpha-1 antitrypsin deficiency
• AATD, see Alpha-1 antitrypsin deficiency
• AB variant, see GM2-gangliosidosis, AB variant
• ABAT deficiency, see GABA-transaminase deficiency
• ABCB11-related intrahepatic cholestasis, see Benign recurrent intrahepatic cholestasis
• ABCB11-related intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis
• ABCB4-related intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis
• abdominal hernia, see Abdominal wall defect
• abdominal migraine, see Cyclic vomiting syndrome
• Abdominal wall defect
• abetalipoproteinaemia, see Abetalipoproteinemia
• Abetalipoproteinemia
• abetalipoproteinemia neuropathy, see Abetalipoproteinemia
• ABL, see Abetalipoproteinemia
• absence defect of limbs, scalp, and skull, see Adams-Oliver syndrome
• absence epilepsy, childhood, see Childhood absence epilepsy
• absence of fingerprints, see Adermatoglyphia
• absence of vas deferens, see Congenital bilateral absence of the vas deferens
• absent corpus callosum cataract immunodeficiency, see Vici syndrome
• absent iris, see Aniridia
• absent nails, see Anonychia congenita
• absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, see Genitopatellar syndrome
• absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO syndrome
• absent vasa, see Congenital bilateral absence of the vas deferens
• AC deficiency, see Farber lipogranulomatosis
• ACAD9 deficiency
• ACADM deficiency, see Medium-chain acyl-CoA dehydrogenase deficiency
• ACADS deficiency, see Short-chain acyl-CoA dehydrogenase deficiency
• ACADVL, see Very long-chain acyl-CoA dehydrogenase deficiency
• acanthocytosis, see Abetalipoproteinemia
• Acatalasemia
• acatalasia, see Acatalasemia
• ACC, see Nonsyndromic aplasia cutis congenita
• ACCPN, see Andermann syndrome
• ACD, see Alveolar capillary dysplasia with misalignment of pulmonary veins
• ACD/MPV, see Alveolar capillary dysplasia with misalignment of pulmonary veins
• ACDMPV, see Alveolar capillary dysplasia with misalignment of pulmonary veins
• Aceruloplasminemia
• ACH, see Achondroplasia
• Achalasia-addisonian syndrome, see Triple A syndrome
• Achalasia-Addisonianism-Alacrima syndrome, see Triple A syndrome
• Achalasia-alacrima syndrome, see Triple A syndrome
• Achondrogenesis
• achondrogenesis syndrome, see Achondrogenesis
• achondrogenesis type II/hypochondrogenesis, see Hypochondrogenesis
• Achondroplasia
• achondroplasia, severe, with developmental delay and acanthosis nigricans, see SADDAN
• achondroplastic dwarfism, see Achondroplasia
• achromatism, see Achromatopsia
• Achromatopsia
• acid ceramidase deficiency, see Farber lipogranulomatosis
• acid esterase deficiency, see Lysosomal acid lipase deficiency
• acid lipase deficiency, see Lysosomal acid lipase deficiency
• acid maltase deficiency, see Pompe disease
• acid maltase deficiency disease, see Pompe disease
• ACLS, see Acrocallosal syndrome
• ACMICD, see Acromicric dysplasia
• acne inversa, see Hidradenitis suppurativa
• ACPS II, see Carpenter syndrome
• acquired aphasia with epilepsy, see Epilepsy-aphasia spectrum
• acral dysostosis with facial and genital abnormalities, see Robinow syndrome
• Acral peeling skin syndrome
• Acrocallosal syndrome
• acrocephalopolysyndactyly 2, see Carpenter syndrome
• acrocephalopolysyndactyly type II, see Carpenter syndrome
• acrocephalosyndactyly, see Apert syndrome
• acrocephalosyndactyly III, see Saethre-Chotzen syndrome
• acrocephalosyndactyly type I, see Apert syndrome
• acrocephalosyndactyly, type II, see Carpenter syndrome
• Acrocephalosyndactyly, type III, see Saethre-Chotzen syndrome
• acrocephalosyndactyly, type V, see Pfeiffer syndrome
• Acrocephaly, Skull Asymmetry, and Mild Syndactyly, see Saethre-Chotzen syndrome
• acrodental dysostosis of Weyers, see Weyers acrofacial dysostosis
• acroerythrokeratoderma, see Mal de Meleda
• acrofacial dysostosis 1, Nager type, see Nager syndrome
• Acromicric dysplasia
• acroosteolysis dominant type, see Hajdu-Cheney syndrome
• acroosteolysis with osteoporosis and changes in skull and mandible, see Hajdu-Cheney syndrome
• acrosome malformation of spermatozoa, see Globozoospermia
• ACS III, see Saethre-Chotzen syndrome
• ACS V, see Pfeiffer syndrome
• ACS3, see Saethre-Chotzen syndrome
• ACS5, see Pfeiffer syndrome
• ACTH resistance, see Familial glucocorticoid deficiency
• ACTH-independent macronodular adrenal hyperplasia, see Primary macronodular adrenal hyperplasia
• ACTH-independent macronodular adrenocortical hyperplasia, see Primary macronodular adrenal hyperplasia
• actin filament aggregate myopathy, see Actin-accumulation myopathy
• actin myopathy, see Actin-accumulation myopathy
• Actin-accumulation myopathy
• action myoclonus-renal failure syndrome, see Action myoclonus–renal failure syndrome
• Action myoclonus–renal failure syndrome
• action myoclonus–renal failure syndrome, see Action myoclonus–renal failure syndrome
• Activated PI3K-delta syndrome
• Activator Deficiency/GM2 Gangliosidosis, see GM2-gangliosidosis, AB variant
• Activator-deficient Tay-Sachs disease, see GM2-gangliosidosis, AB variant
• acute febrile mucocutaneous lymph node syndrome, see Kawasaki disease
• acute generalised pustular psoriasis, see Generalized pustular psoriasis
• acute infectious polyneuritis, see Guillain-Barré syndrome
• acute inflammatory polyneuropathy, see Guillain-Barré syndrome
• acute myelogenous leukemia with normal karyotype, see Cytogenetically normal acute myeloid leukemia
• acute necrotizing encephalitis, see Acute necrotizing encephalopathy type 1
• Acute necrotizing encephalopathy type 1
• Acute promyelocytic leukemia
• ACY1D, see Aminoacylase 1 deficiency
• ACY2 deficiency, see Canavan disease
• acyl-CoA dehydrogenase 9 deficiency, see ACAD9 deficiency
• acyl-CoA dehydrogenase very long chain deficiency, see Very long-chain acyl-CoA dehydrogenase deficiency
• acyl-coenzyme A oxidase deficiency, see Peroxisomal acyl-CoA oxidase deficiency
• acylsphingosine deacylase deficiency, see Farber lipogranulomatosis
• AD, see Anauxetic dysplasia
• AD, see Alzheimer disease
• AD-HIES, see Autosomal dominant hyper-IgE syndrome
• ADA deficiency, see Adenosine deaminase deficiency
• ADA-SCID, see Adenosine deaminase deficiency
• ADA2 deficiency, see Adenosine deaminase 2 deficiency
• Adamantiades-Behcet disease, see Behçet disease
• Adams-Oliver syndrome
• ADANE, see Acute necrotizing encephalopathy type 1
• ADCA-DN syndrome, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• ADCADN, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• adCSNB, see Autosomal dominant congenital stationary night blindness
• ADCY5-related dyskinesia
• ADD, see Attention-deficit/hyperactivity disorder
• ADDH, see Attention-deficit/hyperactivity disorder
• ADDH, see Pol III-related leukodystrophy
• Addison disease and cerebral sclerosis, see X-linked adrenoleukodystrophy
• adducted thumbs-mental retardation syndrome, see L1 syndrome
• Adenine phosphoribosyltransferase deficiency
• adenomatosis, familial endocrine, see Multiple endocrine neoplasia
• adenomatous familial polyposis, see Familial adenomatous polyposis
• adenomatous familial polyposis syndrome, see Familial adenomatous polyposis
• adenomatous polyposis coli, see Familial adenomatous polyposis
• Adenosine deaminase 2 deficiency
• Adenosine deaminase deficiency
• adenosine deaminase deficient severe combined immunodeficiency, see Adenosine deaminase deficiency
• Adenosine monophosphate deaminase deficiency
• adenylosuccinase deficiency, see Adenylosuccinate lyase deficiency
• Adenylosuccinate lyase deficiency
• ADERM, see Adermatoglyphia
• Adermatoglyphia
• ADG, see Adermatoglyphia
• ADH, see Autosomal dominant hypocalcemia
• ADH-resistant diabetes insipidus, see Nephrogenic diabetes insipidus
• ADHD, see Attention-deficit/hyperactivity disorder
• adiposalgia, see Adiposis dolorosa
• adipose tissue rheumatism, see Adiposis dolorosa
• Adiposis dolorosa
• ADLD, see Autosomal dominant leukodystrophy with autonomic disease
• ADLTE, see Autosomal dominant partial epilepsy with auditory features
• ADNFLE, see Autosomal dominant nocturnal frontal lobe epilepsy
• ADNP syndrome
• ADNP-related intellectual disability and autism spectrum disorder, see ADNP syndrome
• ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder, see ADNP syndrome
• ADOA, see Optic atrophy type 1
• Adolescent idiopathic scoliosis
• adolescent myoclonic epilepsy, see Juvenile myoclonic epilepsy
• ADPEAF, see Autosomal dominant partial epilepsy with auditory features
• adrenal Cushing syndrome due to AIMAH, see Primary macronodular adrenal hyperplasia
• adrenal hyperplasia V, see 17 alpha-hydroxylase/17,20-lyase deficiency
• adrenal hyperplasia, hypertensive form, see Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
• Adrenal hypoplasia congenita, see X-linked adrenal hypoplasia congenita
• adrenal unresponsiveness to ACTH, see Familial glucocorticoid deficiency
• adrenocorticotropic hormone-independent macronodular adrenal hyperplasia, see Primary macronodular adrenal hyperplasia
• ADSL deficiency, see Adenylosuccinate lyase deficiency
• adult neuronal ceroid lipofuscinosis, see CLN4 disease
• adult onset ataxia with oculomotor apraxia, see Ataxia with oculomotor apraxia
• Adult polyglucosan body disease
• Adult premature aging syndrome, see Werner syndrome
• Adult Progeria, see Werner syndrome
• adult Refsum disease, see Refsum disease
• adult-onset autosomal dominant leukodystrophy with autonomic symptoms, see Autosomal dominant leukodystrophy with autonomic disease
• adult-onset diabetes, see Type 2 diabetes
• adult-onset diabetes mellitus, see Type 2 diabetes
• Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
• ADVIRC, see Autosomal dominant vitreoretinochoroidopathy
• adynamia episodica hereditaria, see Hyperkalemic periodic paralysis
• AEC syndrome, see Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• AEG syndrome, see SOX2 anophthalmia syndrome
• AEXS, see Aromatase excess syndrome
• AFD1, see Nager syndrome
• affective disorder, seasonal, see Seasonal affective disorder
• afibrinogenemia, see Congenital afibrinogenemia
• African hemochromatosis, see African iron overload
• African iron overload
• African nutritional hemochromatosis, see African iron overload
• African siderosis, see African iron overload
• AGA deficiency, see Aspartylglucosaminuria
• agammaglobulinemia, see X-linked agammaglobulinemia
• aganglionic megacolon, see Hirschsprung disease
• AGAT deficiency, see Arginine:glycine amidinotransferase deficiency
• age-related hearing impairment, see Age-related hearing loss
• Age-related hearing loss
• Age-related macular degeneration
• age-related maculopathy, see Age-related macular degeneration
• agenesis of cerebellar vermis, see Joubert syndrome
• agenesis of corpus callosum with chorioretinal abnormality, see Aicardi syndrome
• agenesis of corpus callosum with infantile spasms and ocular abnormalities, see Aicardi syndrome
• agenesis of corpus callosum with neuronopathy, see Andermann syndrome
• agenesis of corpus callosum with peripheral neuropathy, see Andermann syndrome
• agenesis of corpus callosum with polyneuropathy, see Andermann syndrome
• aggressive fibromatosis, see Desmoid tumor
• AGL deficiency, see Glycogen storage disease type III
• AGM1 deficiency, see PGM3-congenital disorder of glycosylation
• agnogenic myeloid metaplasia, see Primary myelofibrosis
• AGS, see Aicardi-Goutières syndrome
• AH, see Autosomal recessive hypotrichosis
• AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, see Xia-Gibbs syndrome
• aHUS, see Atypical hemolytic-uremic syndrome
• AI, see Amelogenesis imperfecta
• Aicardi Goutieres syndrome, see Aicardi-Goutières syndrome
• Aicardi syndrome
• Aicardi's syndrome, see Aicardi syndrome
• Aicardi-Goutieres syndrome, see Aicardi-Goutières syndrome
• Aicardi-Goutières syndrome
• AIMAH, see Primary macronodular adrenal hyperplasia
• AIPDS, see Otulipenia
• AIRE deficiency, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• airsickness, see Motion sickness
• AIS, see Androgen insensitivity syndrome
• AIS, see Adolescent idiopathic scoliosis
• AKU, see Alkaptonuria
• Al-Aqeel Sewairi syndrome, see Multicentric osteolysis, nodulosis, and arthropathy
• Alacrima-achalasia-adrenal insufficiency neurologic disorder, see Triple A syndrome
• alactasia, see Lactose intolerance
• Alagille syndrome
• Alagille's syndrome, see Alagille syndrome
• Alagille-Watson Syndrome, see Alagille syndrome
• albinism and complete nerve deafness, see Tietz syndrome
• albinism, ocular, see Ocular albinism
• albinism, oculocutaneous, see Oculocutaneous albinism
• albinism-deafness of Tietz, see Tietz syndrome
• albipunctate retinal dystrophy, see Fundus albipunctatus
• Albright hereditary osteodystrophy-like syndrome, see 2q37 deletion syndrome
• Albright syndrome, see McCune-Albright syndrome
• Albright's disease, see McCune-Albright syndrome
• Albright's disease of bone, see McCune-Albright syndrome
• Albright's syndrome, see McCune-Albright syndrome
• Albright's syndrome with precocious puberty, see McCune-Albright syndrome
• Albright-McCune-Sternberg syndrome, see McCune-Albright syndrome
• Albright-Sternberg syndrome, see McCune-Albright syndrome
• alcaptonuria, see Alkaptonuria
• alcohol addiction, see Alcohol use disorder
• alcohol dependence, see Alcohol use disorder
• Alcohol use disorder
• alcoholism, see Alcohol use disorder
• ALDD, see Nakajo-Nishimura syndrome
• ALDOB deficiency, see Hereditary fructose intolerance
• aldolase B deficiency, see Hereditary fructose intolerance
• aldosterone deficiency, see Corticosterone methyloxidase deficiency
• aldosterone deficiency due to deficiency of steroid 18-hydroxylase, see Corticosterone methyloxidase deficiency
• aldosterone deficiency due to deficiency of steroid 18-oxidase, see Corticosterone methyloxidase deficiency
• aldosterone synthase deficiency, see Corticosterone methyloxidase deficiency
• Aldosterone-producing adenoma
• aldosterone-secreting adenoma, see Aldosterone-producing adenoma
• aldosteronism with hyperplasia of the adrenal cortex, see Bartter syndrome
• aldosteronoma, see Aldosterone-producing adenoma
• Alexander disease
• Alexander's disease, see Alexander disease
• ALG1-CDG, see ALG1-congenital disorder of glycosylation
• ALG1-congenital disorder of glycosylation
• ALG12-CDG, see ALG12-congenital disorder of glycosylation
• ALG12-congenital disorder of glycosylation
• ALG6-CDG, see ALG6-congenital disorder of glycosylation
• ALG6-congenital disorder of glycosylation
• Alibert-Bazin syndrome, see Mycosis fungoides
• Alkaptonuria
• Allan-Herndon syndrome, see Allan-Herndon-Dudley syndrome
• Allan-Herndon-Dudley syndrome
• Allanson Pantzar McLeod syndrome, see Renal tubular dysgenesis
• Allergic asthma
• Allgrove syndrome, see Triple A syndrome
• ALMS, see Alström syndrome
• Alopecia areata
• alopecia circumscripta, see Alopecia areata
• Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, see Alpers-Huttenlocher syndrome
• Alpers disease, see Alpers-Huttenlocher syndrome
• Alpers progressive infantile poliodystrophy, see Alpers-Huttenlocher syndrome
• Alpers syndrome, see Alpers-Huttenlocher syndrome
• Alpers-Huttenlocher syndrome
• alpha High Density Lipoprotein Deficiency Disease, see Tangier disease
• Alpha thalassemia
• Alpha thalassemia X-linked intellectual disability syndrome
• alpha thalassemia X-linked mental retardation syndrome, see Alpha thalassemia X-linked intellectual disability syndrome
• alpha thalassemia/mental retardation, X-linked, see Alpha thalassemia X-linked intellectual disability syndrome
• Alpha-1 antitrypsin deficiency
• alpha-1 protease inhibitor deficiency, see Alpha-1 antitrypsin deficiency
• alpha-1 related emphysema, see Alpha-1 antitrypsin deficiency
• alpha-1,4-glucosidase deficiency, see Pompe disease
• alpha-aminoadipic semialdehyde deficiency disease, see Hyperlysinemia
• alpha-D-mannosidosis, see Alpha-mannosidosis
• Alpha-fucosidase deficiency, see Fucosidosis
• alpha-galactosidase A deficiency, see Fabry disease
• alpha-galactosidase B deficiency, see Schindler disease
• alpha-galNAc deficiency, Schindler type, see Schindler disease
• alpha-LCAT deficiency, see Fish-eye disease
• alpha-lecithin:cholesterol acyltransferase deficiency, see Fish-eye disease
• alpha-mannosidase B deficiency, see Alpha-mannosidosis
• alpha-mannosidase deficiency, see Alpha-mannosidosis
• Alpha-mannosidosis
• alpha-Methylacetoacetic aciduria, see Beta-ketothiolase deficiency
• Alpha-methylacyl-CoA racemase deficiency
• alpha-N-acetylgalactosaminidase deficiency, see Schindler disease
• alpha-NAGA deficiency, see Schindler disease
• alpha-thalassemia, see Alpha thalassemia
• alpha-thalassemia X-linked mental retardation syndrome, see Alpha thalassemia X-linked intellectual disability syndrome
• alpha-thalassemia/mental retardation syndrome, nondeletion type, see Alpha thalassemia X-linked intellectual disability syndrome
• Alport syndrome
• ALPS, see Autoimmune lymphoproliferative syndrome
• ALS, see Amyotrophic lateral sclerosis
• ALSP, see Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
• Alstrom syndrome, see Alström syndrome
• Alstrom-Hallgren syndrome, see Alström syndrome
• Alström syndrome
• Alternating hemiplegia of childhood
• alternating hemiplegia syndrome, see Alternating hemiplegia of childhood
• alveolar capillary dysplasia, see Alveolar capillary dysplasia with misalignment of pulmonary veins
• Alveolar capillary dysplasia with misalignment of pulmonary veins
• ALX, see Alexander disease
• alymphoid cystic thymic dysgenesis, see T-cell immunodeficiency, congenital alopecia, and nail dystrophy
• Alzheimer dementia (AD), see Alzheimer disease
• Alzheimer disease
• Alzheimer sclerosis, see Alzheimer disease
• Alzheimer syndrome, see Alzheimer disease
• Alzheimer's Disease, see Alzheimer disease
• Alzheimer-type dementia (ATD), see Alzheimer disease
• AMACR deficiency, see Alpha-methylacyl-CoA racemase deficiency
• amaurosis, Leber congenital, see Leber congenital amaurosis
• AMCD1, see Distal arthrogryposis type 1
• AMCX1, see X-linked infantile spinal muscular atrophy
• AMD, see Age-related macular degeneration
• AMD, see Pompe disease
• Amelogenesis imperfecta
• Aminoacylase 1 deficiency
• aminoacylase 2 deficiency, see Canavan disease
• Amish brittle hair syndrome, see Trichothiodystrophy
• Amish infantile epilepsy syndrome, see GM3 synthase deficiency
• Amish lethal microcephaly
• Amish microcephaly, see Amish lethal microcephaly
• AML M3, see Acute promyelocytic leukemia
• AMP deaminase deficiency, see Adenosine monophosphate deaminase deficiency
• AMRF, see Action myoclonus–renal failure syndrome
• amyloid cranial neuropathy with lattice corneal dystrophy, see Lattice corneal dystrophy type II
• amyloidosis due to mutant gelsolin, see Lattice corneal dystrophy type II
• amyloidosis IX, see Primary localized cutaneous amyloidosis
• amyloidosis V, see Lattice corneal dystrophy type II
• amyloidosis, Finnish type, see Lattice corneal dystrophy type II
• amyloidosis, Meretoja type, see Lattice corneal dystrophy type II
• amylopectinosis, see Glycogen storage disease type IV
• Amyotrophic lateral sclerosis
• amyotrophic lateral sclerosis with dementia, see Amyotrophic lateral sclerosis
• Amyotrophic Neuralgia, see Hereditary neuralgic amyotrophy
• amyotrophy, thenar, of carpal origin, see Carpal tunnel syndrome
• anal-ear-renal-radial malformation syndrome, see Townes-Brocks Syndrome
• Analphalipoproteinemia, see Tangier disease
• anancastic neurosis, see Obsessive-compulsive disorder
• anankastic neurosis, see Obsessive-compulsive disorder
• Anauxetic dysplasia
• Ancell-Spiegler cylindromas, see Familial cylindromatosis
• Andermann syndrome
• Anders syndrome, see Adiposis dolorosa
• Andersen disease, see Glycogen storage disease type IV
• Andersen glycogenosis, see Glycogen storage disease type IV
• Andersen syndrome, see Andersen-Tawil syndrome
• Andersen's disease, see Glycogen storage disease type IV
• Andersen-Tawil syndrome
• Anderson disease, see Chylomicron retention disease
• Anderson syndrome, see Chylomicron retention disease
• Anderson-Fabry disease, see Fabry disease
• Anderson-Warburg syndrome, see Norrie disease
• Androgen insensitivity syndrome
• androgen receptor deficiency, see Androgen insensitivity syndrome
• androgen resistance syndrome, see Androgen insensitivity syndrome
• Androgenetic alopecia
• androgenic alopecia, see Androgenetic alopecia
• ANE1, see Acute necrotizing encephalopathy type 1
• Anemia, Dyserythropoietic, Congenital, see Congenital dyserythropoietic anemia
• Anemia, hereditary sideroblastic, see X-linked sideroblastic anemia
• anemia, hypochromic microcytic, with defect in iron metabolism, see Iron-refractory iron deficiency anemia
• Anemia, sex-linked hypochromic sideroblastic, see X-linked sideroblastic anemia
• anencephalia, see Anencephaly
• anencephalus, see Anencephaly
• Anencephaly
• anesthesia related hyperthermia, see Malignant hyperthermia
• Angelman syndrome
• Angelman-like syndrome, X-linked, see Christianson syndrome
• angio-osteohypertrophy syndrome, see Klippel-Trenaunay syndrome
• angiohemophilia, see Von Willebrand disease
• angiokeratoma corporis diffusum, see Fabry disease
• angiokeratoma corporis diffusum-glycopeptiduria, see Schindler disease
• angiokeratoma diffuse, see Fabry disease
• angiomatosis aculoorbital-thalamic syndrome, see Sturge-Weber syndrome
• angiomatosis retinae, see Von Hippel-Lindau syndrome
• ANH1, see X-linked sideroblastic anemia
• anhidrotic ectodermal dysplasia, see Hypohidrotic ectodermal dysplasia
• Anhidrotic ectodermal dysplasia with immune deficiency
• Aniridia
• aniridia, cerebellar ataxia, and mental retardation, see Gillespie syndrome
• aniridia-cerebellar ataxia-intellectual disability, see Gillespie syndrome
• aniridia-cerebellar ataxia-mental deficiency, see Gillespie syndrome
• ankyloblepharon-ectodermal defects-cleft lip and palate syndrome, see Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Ankylosing spondylitis
• Ankyrin-B syndrome
• annuloaortic ectasia, see Familial thoracic aortic aneurysm and dissection
• anonychia, see Anonychia congenita
• Anonychia congenita
• Anophthalmia-esophageal-genital syndrome, see SOX2 anophthalmia syndrome
• anophthalmia-syndactyly, see Ophthalmo-acromelic syndrome
• anophthalmia-Waardenburg syndrome, see Ophthalmo-acromelic syndrome
• anophthalmos with limb anomalies, see Ophthalmo-acromelic syndrome
• anophthalmos-limb anomalies syndrome, see Ophthalmo-acromelic syndrome
• anosmic hypogonadism, see Kallmann syndrome
• anosmic idiopathic hypogonadotropic hypogonadism, see Kallmann syndrome
• ANS, see Ataxia neuropathy spectrum
• anti-phospholipid syndrome, see Antiphospholipid syndrome
• antibody deficiency and immune dysregulation, PLCG2-associated, see PLCG2-associated antibody deficiency and immune dysregulation
• antiphospholipid antibody syndrome, see Antiphospholipid syndrome
• Antiphospholipid syndrome
• Antithrombin III Deficiency, see Hereditary antithrombin deficiency
• Antley-Bixler syndrome, see Cytochrome P450 oxidoreductase deficiency
• Antley-Bixler syndrome with disordered steroidogenesis, see Cytochrome P450 oxidoreductase deficiency
• Antley-Bixler syndrome-like phenotype with disordered steroidogenesis, see Cytochrome P450 oxidoreductase deficiency
• AO2, see Atelosteogenesis type 2
• AODM, see Type 2 diabetes
• AOI, see Atelosteogenesis type 1
• AOIII, see Atelosteogenesis type 3
• aortic stenosis, supravalvular, see Supravalvular aortic stenosis
• AOS, see Adams-Oliver syndrome
• APBD, see Adult polyglucosan body disease
• APC resistance, Leiden type, see Factor V Leiden thrombophilia
• APDS, see Activated PI3K-delta syndrome
• APECED, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• Apert syndrome
• Apert's syndrome, see Apert syndrome
• APL, see Acute promyelocytic leukemia
• aplasia cutis congenita with terminal transverse limb defects, see Adams-Oliver syndrome
• aplastic nails, see Anonychia congenita
• apnea, obstructive, see Obstructive sleep apnea
• apolipoprotein B deficiency, see Abetalipoproteinemia
• Appelt-Gerken-Lenz syndrome, see Roberts syndrome
• aprosencephaly, see Anencephaly
• APRT deficiency, see Adenine phosphoribosyltransferase deficiency
• APS type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• APS1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• APSS, see Acral peeling skin syndrome
• AR deficiency, see Androgen insensitivity syndrome
• AR dRTA with deafness, see Renal tubular acidosis with deafness
• AR dRTA with hearing loss, see Renal tubular acidosis with deafness
• AR-HIES, see DOCK8 immunodeficiency syndrome
• Arakawa syndrome 1, see Glutamate formiminotransferase deficiency
• ARAN-NM, see Autosomal recessive axonal neuropathy with neuromyotonia
• ARCA1, see Autosomal recessive cerebellar ataxia type 1
• ARD, see Refsum disease
• ARG1 deficiency, see Arginase deficiency
• Arginase deficiency
• Arginase Deficiency Disease, see Arginase deficiency
• Arginine:glycine amidinotransferase deficiency
• Argininemia, see Arginase deficiency
• Argininosuccinate lyase deficiency, see Argininosuccinic aciduria
• argininosuccinic acidemia, see Argininosuccinic aciduria
• Argininosuccinic aciduria
• Argininosuccinicaciduria, see Argininosuccinic aciduria
• argininosuccinyl-CoA lyase deficiency, see Argininosuccinic aciduria
• arginosuccinase deficiency, see Argininosuccinic aciduria
• arhinia choanal atresia microphthalmia, see Bosma arhinia microphthalmia syndrome
• arhinia, choanal atresia, and microphthalmia, see Bosma arhinia microphthalmia syndrome
• arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism, see Bosma arhinia microphthalmia syndrome
• ARMD, see Age-related macular degeneration
• Aromatase deficiency
• Aromatase excess syndrome
• Aromatic l-amino acid decarboxylase deficiency
• Arrhythmogenic right ventricular cardiomyopathy
• arrhythmogenic right ventricular cardiomyopathy-dysplasia, see Arrhythmogenic right ventricular cardiomyopathy
• arrhythmogenic right ventricular dysplasia, see Arrhythmogenic right ventricular cardiomyopathy
• arrhythmogenic right ventricular dysplasia/cardiomyopathy, see Arrhythmogenic right ventricular cardiomyopathy
• ARS, see Axenfeld-Rieger syndrome
• ARSA deficiency, see Metachromatic leukodystrophy
• ARSACS, see Autosomal recessive spastic ataxia of Charlevoix-Saguenay
• arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, see Grange syndrome
• arterial tortuosity, see Arterial tortuosity syndrome
• Arterial tortuosity syndrome
• arteriohepatic dysplasia (AHD), see Alagille syndrome
• arteriopathia calcificans infantum, see Generalized arterial calcification of infancy
• arthritis, degenerative, see Osteoarthritis
• arthritis, gouty, see Gout
• arthritis, juvenile rheumatoid, see Juvenile idiopathic arthritis
• arthritis, rheumatoid, see Rheumatoid arthritis
• arthro-dento-osteo dysplasia, see Hajdu-Cheney syndrome
• arthrocutaneouveal granulomatosis, see Blau syndrome
• arthrodentoosteodysplasia, see Hajdu-Cheney syndrome
• arthrogryposis multiplex congenita, distal, type 2B, see Sheldon-Hall syndrome
• arthrogryposis multiplex congenita, distal, X-linked, see X-linked infantile spinal muscular atrophy
• arthrogryposis, distal, type 1, see Distal arthrogryposis type 1
• arthrogryposis, X-lined, type I, see X-linked infantile spinal muscular atrophy
• arthrogryposis-like syndrome, see Kuskokwim syndrome
• arthrogyroposis, distal, type 9, see Congenital contractural arachnodactyly
• arthropathic psoriasis, see Psoriatic arthritis
• arthropathy, see Osteoarthritis
• articular gout, see Gout
• Arts syndrome
• ARVC, see Arrhythmogenic right ventricular cardiomyopathy
• ARVD, see Arrhythmogenic right ventricular cardiomyopathy
• ARVD/C, see Arrhythmogenic right ventricular cardiomyopathy
• arylsulfatase A deficiency disease, see Metachromatic leukodystrophy
• Arylsulfatase B deficiency, see Mucopolysaccharidosis type VI
• arylsulfatase E deficiency, see X-linked chondrodysplasia punctata 1
• AS, see Ankylosing spondylitis
• AS, see Angelman syndrome
• ASA, see Argininosuccinic aciduria
• Asadollahi-Rauch syndrome, see MED13L syndrome
• ASAuria, see Argininosuccinic aciduria
• ASD, see Autism spectrum disorder
• Asidan ataxia, see Spinocerebellar ataxia type 36
• ASL deficiency, see Argininosuccinic aciduria
• ASNS deficiency, see Asparagine synthetase deficiency
• ASNSD, see Asparagine synthetase deficiency
• Aspa deficiency, see Canavan disease
• Asparagine synthetase deficiency
• aspartoacylase deficiency, see Canavan disease
• aspartyl-tRNA synthetase deficiency, see Hypomyelination with brainstem and spinal cord involvement and leg spasticity
• aspartylglucosamidase deficiency, see Aspartylglucosaminuria
• Aspartylglucosaminidase deficiency, see Aspartylglucosaminuria
• Aspartylglucosaminuria
• aspartylglycosaminuria, see Aspartylglucosaminuria
• asphyxiating thoracic chondrodystrophy, see Asphyxiating thoracic dystrophy
• asphyxiating thoracic dysplasia, see Asphyxiating thoracic dystrophy
• Asphyxiating thoracic dystrophy
• asplenia, familial, see Isolated congenital asplenia
• asplenia, isolated congenital, see Isolated congenital asplenia
• ASRAS, see MED13L syndrome
• asymbolia for pain, see Congenital insensitivity to pain
• asymmetric hypoplasia of facial structures, see Craniofacial microsomia
• Ataxia neuropathy spectrum
• ataxia telangiectasia syndrome, see Ataxia-telangiectasia
• ataxia with isolated vitamin E deficiency, see Ataxia with vitamin E deficiency
• ataxia with lactic acidosis, see Pyruvate dehydrogenase deficiency
• ataxia with lactic acidosis, type II, see Pyruvate carboxylase deficiency
• Ataxia with oculomotor apraxia
• Ataxia with vitamin E deficiency
• ataxia, delayed dentition, and hypomyelination, see Pol III-related leukodystrophy
• ataxia, fatal X-linked, with deafness and loss of vision, see Arts syndrome
• ataxia-deafness-optic atrophy, lethal, see Arts syndrome
• ataxia-hypogonadism-choroidal dystrophy syndrome, see Boucher-Neuhäuser syndrome
• Ataxia-pancytopenia syndrome
• Ataxia-telangiectasia
• ataxia-telangiectasia variant 1, see Nijmegen breakage syndrome
• ATD, see Asphyxiating thoracic dystrophy
• Atelosteogenesis de la Chapelle type, see Atelosteogenesis type 2
• Atelosteogenesis type 1
• Atelosteogenesis type 2
• Atelosteogenesis type 3
• atelosteogenesis type I, see Atelosteogenesis type 1
• atelosteogenesis type III, see Atelosteogenesis type 3
• atelosteogenesis, type 2, see Atelosteogenesis type 2
• ATM, see Ataxia-telangiectasia
• Atopic dermatitis
• atopic eczema, see Atopic dermatitis
• ATP synthase deficiency, see Mitochondrial complex V deficiency
• ATP8B1-related intrahepatic cholestasis, see Benign recurrent intrahepatic cholestasis
• ATP8B1-related intrahepatic cholestasis, see Progressive familial intrahepatic cholestasis
• ATR-X syndrome, see Alpha thalassemia X-linked intellectual disability syndrome
• atrial fibrillation, familial, see Familial atrial fibrillation
• atrio-digital syndrome, see Holt-Oram syndrome
• atriodigital dysplasia, see Holt-Oram syndrome
• Atrophia bulborum hereditaria, see Norrie disease
• ATRX syndrome, see Alpha thalassemia X-linked intellectual disability syndrome
• ATS, see Andersen-Tawil syndrome
• ATS, see Arterial tortuosity syndrome
• attention deficit, see Attention-deficit/hyperactivity disorder
• attention deficit disorder, see Attention-deficit/hyperactivity disorder
• attention deficit disorder of childhood with hyperactivity, see Attention-deficit/hyperactivity disorder
• attention deficit disorder with hyperactivity, see Attention-deficit/hyperactivity disorder
• attention deficit disorder with hyperactivity syndrome, see Attention-deficit/hyperactivity disorder
• attention deficit hyperactivity disorder, see Attention-deficit/hyperactivity disorder
• Attention-deficit/hyperactivity disorder
• ATXPC, see Ataxia-pancytopenia syndrome
• Atypical hemolytic-uremic syndrome
• atypical Philadelphia-negative chronic myeloid leukemia, see PDGFRB-associated chronic eosinophilic leukemia
• auditory vertigo, see Ménière disease
• AUH defect, see 3-methylglutaconyl-CoA hydratase deficiency
• aural vertigo, see Ménière disease
• auricular fibrillation, see Familial atrial fibrillation
• Auriculo-condylar syndrome
• auriculobranchiogenic dysplasia, see Craniofacial microsomia
• auriculocondylar syndrome, see Auriculo-condylar syndrome
• Austin syndrome, see Multiple sulfatase deficiency
• Autism spectrum disorder
• autism, susceptibility to, 14A, see 16p11.2 deletion syndrome
• autism, susceptibility to, 14B, see 16p11.2 duplication
• autism-dementia-ataxia-loss of purposeful hand use syndrome, see Rett syndrome
• autistic continuum, see Autism spectrum disorder
• Autoimmune Addison disease
• autoimmune Addison's disease, see Autoimmune Addison disease
• autoimmune adrenalitis, see Autoimmune Addison disease
• autoimmune chronic lymphocytic thyroiditis, see Hashimoto thyroiditis
• autoimmune diabetes, see Type 1 diabetes
• autoimmune hyperthyroidism, see Graves disease
• Autoimmune lymphoproliferative syndrome
• autoimmune polyendocrinopathy syndrome type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune polyglandular syndrome, type 1, see Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
• autoimmune thrombocytopenia, see Immune thrombocytopenia
• autoimmune thrombocytopenic purpura, see Immune thrombocytopenia
• autoimmune thyroiditis, see Hashimoto thyroiditis
• autoimmunity-immunodeficiency syndrome, X-linked, see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• autoinflammation, lipodystrophy, and dermatosis syndrome, see Nakajo-Nishimura syndrome
• autoinflammation, panniculitis, and dermatosis syndrome, see Otulipenia
• autosomal dominant acute necrotizing encephalopathy, see Acute necrotizing encephalopathy type 1
• autosomal dominant adult-onset demyelinating leukodystrophy, see Autosomal dominant leukodystrophy with autonomic disease
• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, see Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• autosomal dominant cerebrovascular amyloidosis, see Hereditary cerebral amyloid angiopathy
• autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, see Spinal muscular atrophy with lower extremity predominance
• Autosomal dominant congenital stationary night blindness
• autosomal dominant craniometaphyseal dysplasia, see Craniometaphyseal dysplasia
• autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures, see Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• autosomal dominant familial periodic fever, see Tumor necrosis factor receptor-associated periodic syndrome
• autosomal dominant hereditary pancreatitis, see Hereditary pancreatitis
• autosomal dominant hereditary sensory radicular neuropathy, type 1A, see Hereditary sensory neuropathy type IA
• autosomal dominant HIES, see Autosomal dominant hyper-IgE syndrome
• autosomal dominant hyaline body myopathy, see Myosin storage myopathy
• autosomal dominant hyper-IgE recurrent infection syndrome, see Autosomal dominant hyper-IgE syndrome
• Autosomal dominant hyper-IgE syndrome
• autosomal dominant hyperimmunoglobulin E recurrent infection syndrome, see Autosomal dominant hyper-IgE syndrome
• Autosomal dominant hypocalcemia
• autosomal dominant hypoparathyroidism, see Autosomal dominant hypocalcemia
• autosomal dominant intellectual disability 25, see Xia-Gibbs syndrome
• autosomal dominant intellectual disability-17, see PACS1 syndrome
• autosomal dominant interstitial kidney disease, see Medullary cystic kidney disease type 1
• autosomal dominant Job syndrome, see Autosomal dominant hyper-IgE syndrome
• Autosomal dominant lateral temporal lobe epilepsy, see Autosomal dominant partial epilepsy with auditory features
• Autosomal dominant leukodystrophy with autonomic disease
• autosomal dominant medullary cystic kidney disease, see Medullary cystic kidney disease type 1
• autosomal dominant mental retardation 35, see PPP2R5D-related intellectual disability
• autosomal dominant MYH9 spectrum disorders, see MYH9-related disorder
• Autosomal dominant nocturnal frontal lobe epilepsy
• autosomal dominant Opitz G/BBB syndrome, see 22q11.2 deletion syndrome
• autosomal dominant optic atrophy, see Optic atrophy type 1
• Autosomal dominant optic atrophy and cataract
• autosomal dominant optic atrophy Kjer type, see Optic atrophy type 1
• autosomal dominant optic atrophy type 3, see Autosomal dominant optic atrophy and cataract
• Autosomal dominant partial epilepsy with auditory features
• autosomal dominant porencephaly type 1, see Familial porencephaly
• autosomal dominant spastic paraplegia 31, see Spastic paraplegia type 31
• autosomal dominant spastic paraplegia 8, see Spastic paraplegia type 8
• Autosomal dominant vitreoretinochoroidopathy
• Autosomal recessive axonal neuropathy with neuromyotonia
• Autosomal recessive cerebellar ataxia type 1
• autosomal recessive cerebellar ataxia with mental retardation, see VLDLR-associated cerebellar hypoplasia
• autosomal recessive cerebellar hypoplasia with cerebral gyral simplification, see VLDLR-associated cerebellar hypoplasia
• autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, see Autosomal recessive axonal neuropathy with neuromyotonia
• autosomal recessive chronic granulomatous disease, see Chronic granulomatous disease
• autosomal recessive complete congenital stationary night blindness, see Autosomal recessive congenital stationary night blindness
• Autosomal recessive congenital methemoglobinemia
• Autosomal recessive congenital stationary night blindness
• autosomal recessive craniometaphyseal dysplasia, see Craniometaphyseal dysplasia
• autosomal recessive deafness-onychodystrophy syndrome, see DOORS syndrome
• autosomal recessive distal renal tubular acidosis with deafness, see Renal tubular acidosis with deafness
• autosomal recessive distal spinal muscular atrophy 1, see Spinal muscular atrophy with respiratory distress type 1
• Autosomal Recessive Hereditary Spastic Paraplegia, see Troyer syndrome
• Autosomal Recessive Hereditary Spastic Paraplegia, see Spastic paraplegia type 7
• autosomal recessive HIES, see DOCK8 immunodeficiency syndrome
• autosomal recessive hyper-IgE syndrome, see DOCK8 immunodeficiency syndrome
• Autosomal recessive hypotrichosis
• autosomal recessive incomplete congenital stationary night blindness, see Autosomal recessive congenital stationary night blindness
• autosomal recessive infantile hypercalcemia, see Idiopathic infantile hypercalcemia
• autosomal recessive infantile parkinsonism, see Tyrosine hydroxylase deficiency
• autosomal recessive Larsen syndrome, see CHST3-related skeletal dysplasia
• autosomal recessive localized hypotrichosis, see Autosomal recessive hypotrichosis
• autosomal recessive long QT syndrome (LQTS), see Jervell and Lange-Nielsen syndrome
• autosomal recessive neuromyotonia and axonal neuropathy, see Autosomal recessive axonal neuropathy with neuromyotonia
• autosomal recessive OPA3, see Costeff syndrome
• autosomal recessive optic atrophy 3, see Costeff syndrome
• Autosomal recessive primary microcephaly
• autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct, and goiter, see Pendred syndrome
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay
• autosomal recessive spastic paraplegia 15, see Spastic paraplegia type 15
• autosomal recessive spastic paraplegia 5A, see Spastic paraplegia type 5A
• autosomal recessive spastic paraplegia complicated with thin corpus callosum, see Spastic paraplegia type 11
• autosomal recessive spastic paraplegia type 49, see Spastic paraplegia type 49
• autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum, see Spastic paraplegia type 11
• autosomal recessive spinocerebellar ataxia 8, see Autosomal recessive cerebellar ataxia type 1
• autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe combined immunodeficiency, see JAK3-deficient severe combined immunodeficiency
• autosomal recessive T-B+NK- SCID, see JAK3-deficient severe combined immunodeficiency
• autosomal recessive woolly hair with or without hypotrichosis, see Autosomal recessive hypotrichosis
• AUTS14A, see 16p11.2 deletion syndrome
• AUTS14B, see 16p11.2 duplication
• AVED, see Ataxia with vitamin E deficiency
• AxD, see Alexander disease
• Axenfeld and Rieger anomaly, see Axenfeld-Rieger syndrome
• Axenfeld anomaly, see Axenfeld-Rieger syndrome
• Axenfeld syndrome, see Axenfeld-Rieger syndrome
• Axenfeld-Rieger syndrome
• AXRA, see Axenfeld-Rieger syndrome
• AXRS, see Axenfeld-Rieger syndrome
• Ayerza syndrome, see Pulmonary arterial hypertension
• Azorean ataxia, see Spinocerebellar ataxia type 3
• Azorean disease, see Spinocerebellar ataxia type 3