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Genetic Conditions
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Genetic Conditions

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

Other genetic conditions A-Z
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  • 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
  • ACAD8 deficiency, see Isobutyryl-CoA dehydrogenase deficiency
  • 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 type IA (Houston-Harris type), see Achondrogenesis
  • achondrogenesis type IB (Fraccaro type), see Achondrogenesis
  • achondrogenesis type II (Langer-Saldino type), see Achondrogenesis
  • 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
  • Acrofacial dysostosis, Genee-Wiedemann type, see Miller 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 Pol III-related leukodystrophy
  • ADDH, see Attention-deficit/hyperactivity disorder
  • 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 Alpha-N-acetylgalactosaminidase deficiency
  • Alpha-galNAc deficiency, Schindler type, see Alpha-N-acetylgalactosaminidase deficiency
  • 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
  • Alpha-N-acetylgalactosaminidase deficiency, see Alpha-N-acetylgalactosaminidase deficiency
  • Alpha-NAGA deficiency, see Alpha-N-acetylgalactosaminidase deficiency
  • 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 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
  • 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 Alpha-N-acetylgalactosaminidase deficiency
  • 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
  • Arthroophthalmopathy, see Stickler syndrome
  • 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
  • Aseptic necrosis of the capital femoral epiphysis, see Legg-Calvé-Perthes disease
  • 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
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