Genetic Conditions

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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
• AADCD, 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
• 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, see Peeling skin syndrome 2
• 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
• 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 Alzheimer's disease
• AD, see Anauxetic dysplasia
• AD-HIES, see Autosomal dominant hyper-IgE syndrome
• ADA deficiency, see Adenosine deaminase deficiency
• ADA-Related Immune Deficiency, Adenosine Deaminase 1 Deficiency, see Adenosine deaminase deficiency
• ADA-SCID, see Adenosine deaminase deficiency
• ADA1 Deficiency, 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
• Adducted thumbs-mental retardation syndrome, see L1 syndrome
• ADEAF, see Autosomal dominant epilepsy with auditory features
• 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 Arginine vasopressin resistance
• 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 epilepsy with auditory features
• ADMCKD2, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• 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 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
• ADTKD-UMOD, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• ADTKD1, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• 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-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-galactosidase A deficiency, see Fabry disease
• Alpha-galactosidase B deficiency, see Schindler disease
• Alpha-galNAc deficiency, Schindler type, see Schindler disease
• Alpha-L-fucosidase deficiency, see Fucosidosis
• 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's disease
• Alzheimer disease, see Alzheimer's disease
• Alzheimer sclerosis, see Alzheimer's disease
• Alzheimer syndrome, see Alzheimer's disease
• Alzheimer's disease
• Alzheimer-type dementia (ATD), see Alzheimer's 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 Pompe disease
• AMD, see Age-related macular degeneration
• 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
• 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
• Apocrinitis, see Hidradenitis suppurativa
• 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 Peeling skin syndrome 2
• 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 vasopressin deficiency
• Arginine vasopressin resistance
• 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 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 Channelopathy-associated 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 Progressive familial intrahepatic cholestasis
• ATP8B1-related intrahepatic cholestasis, see Benign recurrent 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 Arterial tortuosity syndrome
• ATS, see Andersen-Tawil 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
• ATTR, see Transthyretin amyloidosis
• ATXPC, see Ataxia-pancytopenia syndrome
• Atypical hemolytic-uremic syndrome
• Au-Kline syndrome
• 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's disease
• 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's disease
• 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 epilepsy with auditory features
• 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 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 medullary cystic kidney disease 2, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• 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, see Autosomal dominant 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 tubulointerstitial kidney disease 1, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation, see Autosomal dominant tubulointerstitial kidney disease-UMOD
• Autosomal dominant tubulointerstitial kidney disease-UMOD
• 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 ichthyosis 4B, see Harlequin ichthyosis
• 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 dopa-responsive dystonia, see Tyrosine hydroxylase deficiency
• 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 Segawa syndrome, see Tyrosine hydroxylase deficiency
• 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 20, see Troyer syndrome
• 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
• axial spondylarthritis, see Ankylosing spondylitis
• 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