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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With A

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* A1AT deficiency - See Alpha 1-antitrypsin deficiency
*   AA - See Alopecia areata
* AA Amyloidosis - See Amyloidosis AA
* AAA - See Triple A syndrome
* AAA syndrome - See Triple A syndrome
* AADC deficiency - See Aromatic amino acid decarboxylase deficiency
* AADH syndrome - See Johnson neuroectodermal syndrome
* Aagenaes syndrome
* A-alphalipoprotein neuropathy - See Tangier disease
* AAN - See Balkan endemic nephropathy
* AAPC - See Attenuated familial adenomatous polyposis
* AARRS - See Ulna and fibula absence of with severe limb deficiency
* Aarskog disease - See Aarskog syndrome
* Aarskog Scott syndrome - See Aarskog syndrome
* Aarskog syndrome
* Aarskog-Ose-Pande syndrome - See SHORT syndrome
* Aase-Smith syndrome
* AAT - See Thrombocytopenia, acquired amegakaryocytic
* AAT deficiency - See Alpha 1-antitrypsin deficiency
* AAT3 - See Loeys-Dietz syndrome type 2B
* AAT4 - See Aortic aneurysm, familial thoracic 4
* AAT5 - See Loeys-Dietz syndrome type 2A
* AATD - See Alpha 1-antitrypsin deficiency
* ABAT - See Gamma aminobutyric acid transaminase deficiency
* ABCD syndrome
* Abderhalden Kaufmann Lignac syndrome
* Abderhalden Lignac Kaufmann disease - See Abderhalden Kaufmann Lignac syndrome
* Abdominal aortic aneurysm
* Abdominal chemodectomas with cutaneous angiolipomas
* Abdominal cystic lymphangioma
* Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism - See Prune belly syndrome
* Abdominal obesity metabolic syndrome
* Abdominal retroperitoneal lymphangioma - See Abdominal cystic lymphangioma
* ABDS - See Athabaskan brainstem dysgenesis
* Abducens nerve palsy - See Sixth nerve palsy
* Abductor spasmodic dysphonia (type) - See Spasmodic dysphonia
* Abernethy malformation - See Congenital extrahepatic portosystemic shunt
* Aberrant left subclavian artery - See Aberrant subclavian artery
* Aberrant right subclavian artery - See Aberrant subclavian artery
* Aberrant subclavian artery
* Abetalipoproteinemia
* Abetalipoproteinemia neuropathy - See Abetalipoproteinemia
* Abidi X-linked mental retardation syndrome
* ABL - See Abetalipoproteinemia
* Ablepharon macrostomia syndrome
* Abnormal fusion of dental cementum with alveolar bone - See Ankylosis of teeth
* Abnormal tooth shape - See Hutchinson incisors
* ABPA - See Allergic bronchopulmonary aspergillosis
* Abrikosoff's granulous cell tumor - See Abrikosov's tumor
* Abrikosoff's tumor - See Abrikosov's tumor
* Abrikosov's tumor
* Abruzzo Erickson syndrome
* Absence of a large part of the brain and the skull - See Anencephaly
* Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance - See Ectodermal dysplasia alopecia preaxial polydactyly
* Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly - See Acrocallosal syndrome, Schinzel type
* Absence of dermatoglyphics congenital milia - See Absence of fingerprints congenital milia
* Absence of fingerprints congenital milia
* Absence of gluteal muscle
* Absence of permanent teeth - See Anodontia
* Absence of septum pellucidum
* Absence of testes - See Anorchia
* Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy - See Oculorenocerebellar syndrome
* Absence of Tibia
* Absence of tibia with polydactyly
* Absence of ulna and fibula with severe limb deficiency - See Ulna and fibula absence of with severe limb deficiency
* Absence of upper and lower limbs with pulmonary hypoplasia - See Tetraamelia with pulmonary hypoplasia
* Absence of vagina - See Vagina, absence of
* Absence or underdevelopment of the 6th and 7th cranial nerves - See Moebius syndrome
* Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies - See Tibia absent polydactyly arachnoid cyst
* Absent breasts and nipples
* Absent corpus callosum cataract immunodeficiency - See Vici syndrome
* Absent enamel, nephrocalcinosis and apparently normal calcium metabolism - See Amelogenesis imperfecta nephrocalcinosis
* Absent eyebrows and eyelashes with mental retardation - See Pseudoprogeria syndrome
* Absent middle phalanges of digits 2-5 with nail dysplasia - See Brachydactyly type A5
* Absent nails and dystrophic nails - See Anonychia onychodystrophy
* Absent patella
* Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation - See Genitopatellar syndrome
* Absent radii and thrombocytopenia - See TAR syndrome
* Absent sternum - See Asternia
* Absent T lymphocytes
* Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate - See Rapadilino syndrome
* Abuelo Forman Rubin syndrome - See Alpha-thalassemia-abnormal morphogenesis
* Abuse dwarfism syndrome
* AC deficiency - See Farber's disease
* ACAD8 deficiency - See Isobutyryl-CoA dehydrogenase deficiency
* ACADL deficiency - See LCAD deficiency
* ACADM deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
* ACADS deficiency - See Short chain acyl CoA dehydrogenase deficiency
* Acalculous cholecystitis - See Cholecystitis
* Acalvaria
* Acanthamoeba infection
* Acanthocheilonema perstans infection - See Acanthocheilonemiasis
* Acanthocheilonemiasis
* Acanthocytosis
* Acanthocytosis with neurologic disorder - See Choreoacanthocytosis
* Acanthoma
* Acanthoma of the nail matrix - See Onychocytic matricoma
* Acanthosis nigricans
* Acanthosis nigricans muscle cramps acral enlargement
* Acardia
* ACAT2 - See Acetyl CoA acetyltransferase 2 deficiency
* Acatalasemia
* Acatalasia - See Acatalasemia
* ACC - See Adrenocortical carcinoma
* ACC with abnormal genitalia - See Proud Levine Carpenter syndrome
* ACC with intestinal lymphangiectasia - See Aplasia cutis congenita intestinal lymphangiectasia
* Accelerated silicosis - See Silicosis
* Accessory deep peroneal nerve
*   Accessory navicular bone
* Accessory nipples - See Supernumerary nipples
* Accessory pancreas
* ACCPN - See Andermann syndrome
* Accutane fetal effects of - See Fetal retinoid syndrome
* Accutane-exposed pregnancies - See Fetal retinoid syndrome
* ACD - See Acrofacial dysostosis Catania type
* ACD - See Acute cholinergic dysautonomia
* ACD mental retardation syndrome - See Alopecia contractures dwarfism mental retardation
* ACDC
* Aceruloplasminemia
* Acetazolamide-responsive episodic ataxia syndrome - See Episodic ataxia with nystagmus
* Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia - See Episodic ataxia with nystagmus
* Acetoacetyl CoA thiolase, cytosolic - See Acetyl CoA acetyltransferase 2 deficiency
* Acetocoenzyme A acetyltransferase 2 - See Acetyl CoA acetyltransferase 2 deficiency
* Acetyl CoA acetyltransferase 2 deficiency
* Acetyl-carnitine deficiency
* Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency - See Mucopolysaccharidosis type IIIC
* Acetyl-CoA:arylamine n-acetyltransferase - See N acetyltransferase deficiency
* ACFD - See Acrocapitofemoral dysplasia
* ACG1A - See Achondrogenesis type 1A
* ACG1B - See Achondrogenesis type 1B
* ACG2 - See Achondrogenesis type 2
* ACH - See Achondroplasia
* Achalasia
* Achalasia Addisonianism Alacrimia syndrome - See Triple A syndrome
* Achalasia alacrima syndrome - See Triple A syndrome
* Achalasia microcephaly syndrome
* Achalasia, familial esophageal
* Achard syndrome
* Achard Thiers syndrome
* Acheiropodia - See Acheiropody
* Acheiropody
* Acheiropody, Brazilian type - See Acheiropody
* ACHM1 (formerly) - See Achromatopsia 3
* ACHM2 - See Achromatopsia 2
* ACHM3 - See Achromatopsia 3
* Achondrogenesis
* Achondrogenesis Fraccaro type - See Achondrogenesis type 1B
* Achondrogenesis Houston-Harris type - See Achondrogenesis type 1A
* Achondrogenesis type 1A
* Achondrogenesis type 1B
* Achondrogenesis type 2
* Achondrogenesis type II (formerly) - See Chondrodysplasia, Grebe type
* Achondrogenesis, Langer-Saldino type - See Achondrogenesis type 2
* Achondroplasia
* Achondroplasia and severe combined immunodeficiency
* Achondroplasia and Swiss type agammaglobulinemia
* Achondroplasia so-called and severe combined immunodeficiency - See Achondroplasia and severe combined immunodeficiency
* Achondroplastic dwarfism - See Achondroplasia
* ACHOO syndrome - See Autosomal dominant compelling helio ophthalmic outburst syndrome
* ACHP - See Acheiropody
* Achromatopsia 2
* Achromatopsia 3
* Achromatopsia incomplete X-linked - See Blue cone monochromatism
* Achromatopsia with myopia - See Achromatopsia 3
* Acid beta-glucosidase deficiency - See Gaucher disease type 1
* Acid ceramidase deficiency - See Farber's disease
* Acid maltase deficiency disease - See Glycogen storage disease type 2
* Acidemia, methylmalonic - See Methylmalonic acidemia
* Acinic cell carcinoma
* Acinic cell tumor - See Acinic cell carcinoma
* Acitretin embryofetopathy - See Acitretin embryopathy
* Acitretin embryopathy
* Ackee poisoning - See Jamaican vomiting sickness
* Ackerman syndrome
* ACLS - See Acrocallosal syndrome, Schinzel type
*   Acne inversa - See Hidradenitis suppurativa
* Acoustic neurilemoma - See Acoustic neuroma
* Acoustic neurinoma - See Acoustic neuroma
* Acoustic neurinoma bilateral - See Neurofibromatosis type 2
* Acoustic neuroma
* Acoustic schwannomas bilateral - See Neurofibromatosis type 2
* Acoustic tumor - See Acoustic neuroma
* ACPO - See Ogilvie syndrome
* ACPS 2 - See Carpenter syndrome
* ACPS 3 - See Sakati syndrome
* ACPS 4 - See Goodman syndrome
* ACPS with leg hypoplasia - See Sakati syndrome
* Acquired adult-onset immunodeficiency - See Anti-interferon-gamma autoantibody syndrome
* Acquired agranulocytosis
* Acquired angioedema
* Acquired aphasia with convulsive disorder - See Landau-Kleffner syndrome
* Acquired autoimmune hemolytic anemia - See Autoimmune hemolytic anemia
* Acquired C1 inhibitor deficiency - See Acquired angioedema
* Acquired epidermolysis bullosa - See Epidermolysis bullosa acquisita
* Acquired epileptiform aphasia - See Landau-Kleffner syndrome
* Acquired factor 8 deficiency - See Hemophilia A, acquired
* Acquired factor II deficiency - See Acquired hypoprothrombinemia
* Acquired factor VII deficiency - See Hemophilia A, acquired
* Acquired fructose intolerance
* Acquired haemophilia - See Acquired hemophilia
* Acquired hemophilia
* Acquired hemophilia A - See Hemophilia A, acquired
* Acquired hyperostosis syndrome - See SAPHO syndrome
* Acquired hypoprothrombinemia
* Acquired ichthyosis - See Ichthyosis, acquired
* Acquired PRCA - See Acquired pure red cell aplasia
* Acquired prothrombin deficiency - See Acquired hypoprothrombinemia
* Acquired pure megakaryocytic aplasia - See Thrombocytopenia, acquired amegakaryocytic
* Acquired pure red cell aplasia
* Acquired Von Willebrand disease - See Acquired Von Willebrand syndrome
* Acquired Von Willebrand syndrome
* Acral dysostosis dyserythropoiesis syndrome
* Acral dysostosis with facial and genital abnormalities - See Robinow syndrome
* Acral lentiginous malignant melanoma of skin - See Acral lentiginous melanoma
* Acral lentiginous melanoma
* Acral renal ectodermal dysplasia lipoatrophic diabetes - See AREDYLD
* Acro cephalo synostosis - See Allain-Babin-Demarquez syndrome
* Acro coxo mesomelic dysplasia
* Acro dermato ungual lacrimal tooth syndrome - See ADULT syndrome
* Acro fronto facio nasal dysostosis - See Acrofrontofacionasal dysostosis syndrome
* Acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation - See Hordnes Engebretsen Knudtson syndrome
* Acrocallosal syndrome - See Acrocallosal syndrome, Schinzel type
* Acrocallosal syndrome, Schinzel type
* Acrocapitofemoral dysplasia
* Acrocephalopolydactylous dysplasia
* Acrocephalopolydactyly
* Acrocephalopolysyndactyly type 2 - See Carpenter syndrome
* Acrocephalopolysyndactyly type 3 - See Sakati syndrome
* Acrocephalopolysyndactyly type 4 - See Goodman syndrome
* Acrocephalo-syndactyly type 1 - See Apert syndrome
* Acrocephalosyndactyly, Robinow-Sorauf type - See Robinow Sorauf syndrome
* Acrocephalo-syndactyly, type 3 - See Saethre-Chotzen syndrome
* Acrocephalosyndactyly, type 5 - See Pfeiffer syndrome
* Acrocephaly, skull asymmetry, and mild syndactyly - See Saethre-Chotzen syndrome
* Acrocraniofacial dysostosis - See Kaplan Plauchu Fitch syndrome
* Acrodermatitis
* Acrodermatitis enteropathica
* Acrodermatitis enteropathica zinc deficiency type - See Acrodermatitis enteropathica
* Acrodermatitis, infantile lichenoid - See Gianotti Crosti syndrome
* Acrodermatitis, papular infantile - See Gianotti Crosti syndrome
* Acro-dermato-ungual-lacrimal-tooth syndrome - See ADULT syndrome
* Acrodysostosis
* Acrodysplasia - See Acrodysostosis
* Acrodysplasia scoliosis
* Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
* Acrofacial dysostosis 1, Nager type - See Nager acrofacial dysostosis
* Acrofacial dysostosis Catania type
* Acrofacial dysostosis of Weyers - See Weyers acrofacial dysostosis
* Acrofacial dysostosis Palagonia type
* Acrofacial dysostosis Preis type
* Acrofacial dysostosis Rodriguez type
* Acrofrontofacionasal dysostosis syndrome
* Acrofrontofacionasal dysostosis, severe - See Naguib-Richieri-Costa syndrome
* Acrogeria - See Acrogeria, Gottron type
* Acrogeria, Gottron type
* Acrokeratoelastoidosis of Costa
* Acromegaloid changes, cutis verticis gyrata and corneal leukoma
* Acromegaloid facial appearance syndrome
* Acromegaloid facial appearance syndrome and hypertrichosis - See Acromegaloid hypertrichosis syndrome
* Acromegaloid features, overgrowth, cleft palate and hernia
* Acromegaloid hypertrichosis syndrome
* Acromegaly
* Acromelalgia hereditary - See Restless legs syndrome, susceptibility to, 1
* Acromelanosis
* Acromelic frontonasal dysostosis
* Acromesomelic dwarfism - See Acromesomelic dysplasia
* Acromesomelic dwarfism Maroteux type - See Acromesomelic dysplasia Maroteaux type
* Acromesomelic dysplasia
* Acromesomelic dysplasia Campailla Martinelli type
* Acromesomelic dysplasia Hunter Thompson type
* Acromesomelic dysplasia Maroteaux type
* Acromesomelic dysplasia, Grebe type - See Chondrodysplasia, Grebe type
* Acrometageria - See Acrogeria, Gottron type
* Acromicric dysplasia
* Acromicric skeletal dysplasia - See Acromicric dysplasia
* Acroosteolysis dominant type
* Acroosteolysis with osteoporosis and changes in skull and mandible - See Hajdu-Cheney syndrome
* Acro-osteolysis-facial dysplasia syndrome - See Van Bogaert-Hozay syndrome
* Acropectoral syndrome
* Acro-pectoral syndrome - See Acropectoral syndrome
* Acro-pectoro-renal field defect
* Acropectorovertebral dysplasia - See Acropectorovertebral dysplasia F form
* Acropectorovertebral dysplasia F form
* Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes - See AREDYLD
* Acrorenal mandibular syndrome
* Acrorenal syndrome autosomal recessive - See Acrorenal syndrome recessive
* Acrorenal syndrome recessive
* Acro-renal-uterine-mandibular syndrome - See Acrorenal mandibular syndrome
* Acrorenoocular syndrome - See Duane-radial ray syndrome
* Acrospiroma
* Acrospiroma eccrine - See Procarcinoma
* ACRP syndrome - See Acropectoral syndrome
* ACRPS - See Acropectoral syndrome
* ACRPV - See Acropectorovertebral dysplasia F form
* ACS - See Acrocallosal syndrome, Schinzel type
* ACS 1 - See Apert syndrome
* ACS 3 - See Saethre-Chotzen syndrome
* ACS3 - See Saethre-Chotzen syndrome
* ACS5 - See Pfeiffer syndrome
* ACTH deficiency, isolated - See Isolated ACTH deficiency
* ACTH resistance - See Familial glucocorticoid deficiency
* ACTH-independent macronodular adrenal hyperplasia
* ACTH-independent macronodular adrenocortical hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
* Actinic cheilitis
* Actinic cheilosis - See Actinic cheilitis
* Actinomyces israeli - See Actinomycosis
* Actinomycetes - See Actinomycosis
* Actinomycosis
* Activated PI3K-delta syndrome - See PASLI disease
* ACUG - See Blau syndrome
* Acutane embryopathy - See Fetal retinoid syndrome
* Acute articular rheumatism
* Acute autoimmune peripheral neuropathy - See Guillain-Barre syndrome
* Acute Berylliosis - See Berylliosis
* Acute biphenotypic leukemia
* Acute brachial neuritis - See Parsonage Turner syndrome
* Acute brachial neuritis syndrome - See Parsonage Turner syndrome
* Acute brachial radiculitis syndrome - See Parsonage Turner syndrome
* Acute cerebral Gaucher disease - See Gaucher disease
* Acute cholinergic dysautonomia
* Acute colonic ileus - See Ogilvie syndrome
* Acute colonic pseudo-obstruction - See Ogilvie syndrome
* Acute disseminated encephalomyelitis
* Acute encephalitis with refractory repetitive partial seizures - See Febrile infection-related epilepsy syndrome
* Acute erythroblastic leukemia
* Acute erythroid leukemia
* Acute erythroleukemia - See Acute erythroid leukemia
* Acute erythroleukemia M6a subtype - See Acute erythroid leukemia
* Acute erythroleukemia M6b subtype - See Acute erythroid leukemia
* Acute fatty liver of pregnancy
* Acute fatty liver, gestational - See Acute fatty liver of pregnancy
* Acute febrile neutrophilic dermatosis
* Acute graft versus host disease
* Acute granulocytic leukemia - See Acute myeloid leukemia, adult
* Acute GVHD - See Acute graft versus host disease
* Acute hemorrhagic leukoencephalitis
* Acute immune-mediated polyneuropathy - See Guillain-Barre syndrome
* Acute infantile liver failure - See Liver failure acute infantile
* Acute inflammatory demyelinating polyneuropathy - See Guillain-Barre syndrome
* Acute inflammatory demyelinating polyradiculoneuropathy - See Guillain-Barre syndrome
* Acute inflammatory neuropathy - See Guillain-Barre syndrome
* Acute inflammatory polyneuropathy - See Guillain-Barre syndrome
* Acute intermittent porphyria
* Acute leukemia of ambiguous lineage - See Acute biphenotypic leukemia
* Acute leukemia of undetermined lineage - See Acute biphenotypic leukemia
* Acute lipodermatosclerosis - See Lipodermatosclerosis
* Acute lung injury - See Acute respiratory distress syndrome
* Acute lymphoblastic leukemia
* Acute lymphoblastic leukemia congenital sporadic aniridia
* Acute lymphoblastic leukemia, childhood
* Acute lymphocytic leukemia - See Acute lymphoblastic leukemia
* Acute Marchiafava-Bignami disease - See Marchiafava Bignami disease
* Acute megakaryoblastic leukemia
* Acute membranous gingivitis - See Acute necrotizing ulcerative gingivitis
* Acute mesenteric ischemia (subtype) - See Mesenteric artery ischemia
* Acute monoblastic leukemia
* Acute mountain sickness
* Acute multifocal placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
* Acute myeloblastic leukemia type 1
* Acute myeloblastic leukemia type 2
* Acute myeloblastic leukemia type 3
* Acute myeloblastic leukemia type 4
* Acute myeloblastic leukemia type 5
* Acute myeloblastic leukemia type 6
* Acute myeloblastic leukemia type 7
* Acute myeloblastic leukemia with maturation
* Acute myeloblastic leukemia without maturation
* Acute myelocytic leukemia
* Acute myelodysplasia with myelofibrosis - See Acute panmyelosis with myelofibrosis
* Acute myelofibrosis - See Acute panmyelosis with myelofibrosis
* Acute myelogenous leukemia - See Acute myeloid leukemia, adult
* Acute myeloid leukemia FAB-M6 - See Acute erythroid leukemia
* Acute myeloid leukemia, adult
* Acute myeloid leukemia, childhood
* Acute myelomonocytic leukemia
* Acute myelosclerosis - See Acute panmyelosis with myelofibrosis
* Acute necrotizing ulcerative gingivitis
* Acute non lymphoblastic leukemia
* Acute non-herpetic encephalitis with severe refractory status epilepticus - See Febrile infection-related epilepsy syndrome
* Acute non-lymphocytic leukemia - See Acute myeloid leukemia, adult
* Acute panmyelosis with myelofibrosis
* Acute placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
* Acute posterior multifocal placoid pigment epitheliopathy
* Acute promyelocytic leukemia
* Acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells') - See Hemolytic uremic syndrome
* Acute respiratory distress syndrome
* Acute Rheumatic Fever - See Rheumatic Fever
* Acute rheumatism - See Acute articular rheumatism
* Acute shoulder neuritis - See Parsonage Turner syndrome
* Acute silicosis - See Silicosis
* Acute stress cardiomyopathy - See Stress cardiomyopathy
* Acute zonal occult outer retinopathy
* ACV - See Spinocerebellar ataxia 29
* ACY1 deficiency - See Aminoacylase 1 deficiency
* ACY1D - See Aminoacylase 1 deficiency
* ACY2 deficiency - See Canavan disease
* Acyl-CoA dehydrogenase medium chain deficiency of - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
* Acyl-CoaA dehydrogenase family, member 8, deficiency of - See Isobutyryl-CoA dehydrogenase deficiency
* AD hyperimmunoglobulin E syndrome - See Autosomal dominant hyper IgE syndrome
* AD1 - See Alzheimer disease type 1
* AD2 - See Alzheimer disease type 2
* AD3 - See Alzheimer disease type 3
* AD4 - See Alzheimer disease type 4
* ADA deficiency - See Adenosine deaminase deficiency
* Adactylia unilateral
* Adamantinoma - See Craniopharyngioma
* Adamantinomatous tumor - See Craniopharyngioma
* Adams Nance syndrome - See Tachycardia hypertension microphthalmia and hyperglycinuria
* Adams Oliver syndrome
* ADA-SCID - See Adenosine deaminase deficiency
* ADC - See AIDS Dementia Complex
* ADCA type 2 - See Spinocerebellar ataxia 7
* Addison disease - See Addison's disease
* Addisonian achalasia syndrome - See Triple A syndrome
* Addison's disease
* Adducted thumb and clubfoot syndrome
* Adducted thumb clubfoot syndrome - See Adducted thumb and clubfoot syndrome
* Adducted thumb with mental retardation - See Spastic paraplegia 1
* Adducted thumb-club foot syndrome - See Adducted thumbs Dundar type
* Adducted thumbs Dundar type
* Adducted thumbs syndrome - See Clasped thumbs, congenital
* Adductor spasmodic dysphonia (type) - See Spasmodic dysphonia
* ADE - See Acute disseminated encephalomyelitis
* ADEM - See Acute disseminated encephalomyelitis
* Adenine phosphoribosyltransferase deficiency
* Adenitis, salivary gland - See Sialadenitis
* Adenoameloblastoma
* Adenocarcinoid tumor
* Adenocarcinoma of lung
* Adenocarcinoma of the appendix
* Adenocarcinoma of the urachus - See Urachal adenocarcinoma
* Adenocystic carcinoma - See Adenoid cystic carcinoma
* Adenoid cystic carcinoma
* Adenoma of the adrenal gland
* Adenomatoid odontogenic tumor - See Adenoameloblastoma
* Adenomatous polyposis coli - See Familial adenomatous polyposis
* Adenomatous polyposis of the colon - See Familial adenomatous polyposis
* Adenomyo-epithelioma - See Epithelial-myoepithelial carcinoma
* Adenomyosis
* Adenosarcoma of the uterus
* Adenosine deaminase deficiency
* Adenosine deaminase deficient severe combined immunodeficiency - See Adenosine deaminase deficiency
* Adenosine monophosphate deaminase 1 deficiency
* Adenosine triphosphatase deficiency anemia - See Anemia due to Adenosine triphosphatase deficiency
* Adenosquamous carcinoma - See Metaplastic carcinoma of the breast
* Adenylosuccinase deficiency
* Adenylosuccinate lyase deficiency - See Adenylosuccinase deficiency
* ADFN - See Albinism deafness syndrome
* ADH resistant diabetes insipidus - See Nephrogenic diabetes insipidus
* Adhalin deficiency, secondary - See Limb-girdle muscular dystrophy, type 2C
* AD-HIES - See Autosomal dominant hyper IgE syndrome
* Adie syndrome
* Adie's Pupil - See Adie syndrome
* Adiposis dolorosa
* Adiposodysgenesis - See Froelich syndrome
* Adiposogenital dystrophy - See Froelich syndrome
* ADLTE - See Autosomal dominant partial epilepsy with auditory features
* ADM - See Amyopathic dermatomyositis
* ADMCKD1 - See Medullary cystic kidney disease 1
* ADMCKD2 - See Medullary cystic kidney disease 2
* Adnexal spiradenoma/cylindroma of a sweat gland
* Adnexal sweat gland spiradenoma/cylindroma - See Adnexal spiradenoma/cylindroma of a sweat gland
* ADPEAF - See Autosomal dominant partial epilepsy with auditory features
*   ADPKD - See Autosomal dominant polycystic kidney disease
* ADR syndrome - See Reardon Wilson Cavanagh syndrome
* Adrenal adenoma - See Adenoma of the adrenal gland
* Adrenal aplasia - See Addison's disease
* Adrenal cancer
* Adrenal cortex adenoma - See Cushing's syndrome
* Adrenal cortical adenoma - See Adenoma of the adrenal gland
* Adrenal cyst with ectodermal dysplasia - See Ectodermal dysplasia adrenal cyst
* Adrenal gland hyperfunction - See Hyperadrenalism
* Adrenal gland hypofunction - See Addison's disease
* Adrenal hyperfunction resulting from pituitary acth excess - See Cushing's syndrome
* Adrenal hyperplasia 2 - See 3-beta-hydroxysteroid dehydrogenase deficiency
* Adrenal hyperplasia 4 - See 11-beta-hydroxylase deficiency
* Adrenal hyperplasia hypertensive form - See 11-beta-hydroxylase deficiency
* Adrenal hyperplasia II - See 3-beta-hydroxysteroid dehydrogenase deficiency
* Adrenal hyperplasia IV - See 11-beta-hydroxylase deficiency
* Adrenal hypoplasia - See Addison's disease
* Adrenal hypoplasia congenita - See X-linked adrenal hypoplasia congenita
* Adrenal incidentaloma - See Adenoma of the adrenal gland
* Adrenal medulla cancer
* Adrenocortical adenoma - See Adenoma of the adrenal gland
* Adrenocortical carcinoma
* Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
* Adrenoleukodystrophy - See Adrenoleukodystrophy X-linked
* Adrenoleukodystrophy autosomal neonatal form - See Neonatal adrenoleukodystrophy
* Adrenoleukodystrophy childhood cerebral form - See Childhood-onset cerebral X-linked adrenoleukodystrophy
* Adrenoleukodystrophy X-linked
* Adrenoleukodystrophy X-linked cerebral form - See Childhood-onset cerebral X-linked adrenoleukodystrophy
* Adrenomyeloneuropathy
* Adrenomyodystrophy
* ADRVCL - See Retinal vasculopathy with cerebral leukodystrophy
* ADSL deficiency - See Adenylosuccinase deficiency
* Adult acute myeloid leukemia - See Acute myeloid leukemia, adult
* Adult CLN (type of CLN1) - See Ceroid lipofuscinosis neuronal 1
* Adult Fanconi syndrome - See Fanconi renotubular syndrome
* Adult GM1 gangliosidosis - See GM1 gangliosidosis type 3
* Adult granulosa cell tumor of the ovary - See Granulosa cell tumor of the ovary
* Adult NCL - See Adult neuronal ceroid lipofuscinosis
* Adult neuronal ceroid lipofuscinosis
* Adult neuronal ceroid lipofuscinosis 4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Adult paranasal sinus cancer - See Paranasal sinus cancer, adult
* Adult progressive spinal muscular atrophy Aran Duchenne type
* Adult pure red cell aplasia - See Acquired pure red cell aplasia
* Adult respiratory distress syndrome - See Acute respiratory distress syndrome
* Adult SMA Aran Duchenne type - See Adult progressive spinal muscular atrophy Aran Duchenne type
* Adult Still's disease - See Adult-onset Still's disease
* Adult stomach cancer - See Stomach carcinoma
* Adult stomach carcinoma - See Stomach carcinoma
* ADULT syndrome
* Adult-onset citrullinemia type 2 - See Adult-onset citrullinemia type II
* Adult-onset citrullinemia type II
* Adult-onset foveomacular vitelliform dystrophy - See Adult-onset vitelliform macular dystrophy
* Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies - See Anti-interferon-gamma autoantibody syndrome
* Adult-onset leukodystrophy with neuroaxonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
* Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - See Hereditary diffuse leukoencephalopathy with spheroids
* Adult-onset recurrent respiratory papillomatosis (type) - See Recurrent respiratory papillomatosis
* Adult-onset spinal muscular atrophy - See Spinal muscular atrophy type 4
* Adult-onset Still's disease
* Adult-onset vitelliform macular dystrophy
* Advanced sleep phase syndrome, familial
* ADVIRC - See Vitreoretinochoroidopathy dominant
* Adynamia episodica hereditaria with or without myotonia - See Hyperkalemic periodic paralysis
* AE - See Acrodermatitis enteropathica
* AEC syndrome - See Hay-Wells syndrome
* AEG syndrome - See Microphthalmia syndromic 3
* Aerobic actinomyces infection
* AERRPS - See Febrile infection-related epilepsy syndrome
* AEZ - See Acrodermatitis enteropathica
* AFA syndrome - See Acromegaloid facial appearance syndrome
* AFAP - See Attenuated familial adenomatous polyposis
* AFD Catania type - See Acrofacial dysostosis Catania type
* AFD- Palagonia type - See Acrofacial dysostosis Palagonia type
* AFD, Nager type - See Nager acrofacial dysostosis
* AFFN dysostosis 1 - See Acrofrontofacionasal dysostosis syndrome
* AFFN dysostosis 2 - See Naguib-Richieri-Costa syndrome
* Afibrinogenemia
* Afibrinogenemia congenital - See Afibrinogenemia
* AFLP - See Acute fatty liver of pregnancy
* AFND - See Acromelic frontonasal dysostosis
* African eye worm - See Loiasis
* African iron overload - See Bantu siderosis
* African Kaposi sarcoma - See Endemic Kaposi sarcoma
* African/endemic Kaposi sarcoma - See Endemic Kaposi sarcoma
* AGA deficiency - See Aspartylglycosaminuria
* Agammaglobulinemia X-linked type 2
* Agammaglobulinemia and achondroplasia - See Achondroplasia and Swiss type agammaglobulinemia
* Agammaglobulinemia and isolated growth hormone deficiency, x-linked - See Isolated growth hormone deficiency type 3
* Agammaglobulinemia due to early proB cell defect - See Agammaglobulinemia, non-Bruton type
* Agammaglobulinemia, autosomal recessive - See Agammaglobulinemia, non-Bruton type
* Agammaglobulinemia, Bruton tyrosine kinase - See X-linked agammaglobulinemia
* Agammaglobulinemia, BTK - See X-linked agammaglobulinemia
* Agammaglobulinemia, microcephaly, and severe dermatitis
* Agammaglobulinemia, non-Bruton type
* Aganglionic megacolon - See Hirschsprung's disease
* Aganglionosis, total colonic - See Aganglionosis, total intestinal
* Aganglionosis, total intestinal
* AGAT deficiency
* Agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies - See Ben Ari Shuper Mimouni 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
* Agenesis of hemidiaphragm - See Congenital diaphragmatic hernia
* Agenesis of macula - See Coloboma of macula
* Agenesis of the corpus callosum with mental retardation and osseous lesions - See Kozlowski Ouvrier syndrome
* Agenesis of the dorsal pancreas
* Agenesis of the internal carotid artery - See Internal carotid agenesis
* Agenesis of the penis - See Penis agenesis
*   Age-related macular degeneration - See Macular degeneration
*   Age-related maculopathy - See Macular degeneration
* Aggressive fibromatosis - See Desmoid tumor
* Aggressive natural killer cell leukemia - See Aggressive NK cell leukemia
* Aggressive NK cell leukemia
* AGID - See Autoimmune gastrointestinal dysmotility
* Aglossia adactylia - See Hanhart syndrome
* Aglossia and Situs Inversus
* Aglucosidase alfa - See Glycogen storage disease type 2
* AGMX2 - See Agammaglobulinemia X-linked type 2
* Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment - See Agnathia-microstomia-synotia
* Agnathia-holoprosencephaly - See Dysgnathia complex
* Agnathia-microstomia-synotia
* Agnogenic myeloid metaplasia - See Myelofibrosis
* Agnosia
* Agonadism with multiple internal malformations - See PAGOD syndrome
* Agonadism XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations - See Kennerknecht Vogel syndrome
* AGPS deficiency - See Rhizomelic chondrodysplasia punctata, type 3
* Agranulocytosis infantile - See Severe congenital neutropenia autosomal recessive 3
* Agranulocytosis, acquired - See Acquired agranulocytosis
* Agressive systemic mastocytosis - See Systemic mastocytosis
* AGS - See Aicardi-Goutieres syndrome
* AGS1 - See Aicardi-Goutieres syndrome type 1
* AGS2 - See Aicardi-Goutieres syndrome type 2
* AGS3 - See Aicardi-Goutieres syndrome type 3
* AGS4 - See Aicardi-Goutieres syndrome type 4
* AGS5 - See Aicardi-Goutieres syndrome type 5
* AGU - See Aspartylglycosaminuria
* Agyria pachygyria polymicrogyria
* Agyria-pachygyria type 1
* AHC - See Alternating hemiplegia of childhood
* AHDS - See Allan-Herndon-Dudley syndrome
* AHL - See Acute hemorrhagic leukoencephalitis
* AHLE - See Acute hemorrhagic leukoencephalitis
* Ahmad X-linked Mental retardation syndrome - See Mental retardation X-linked syndromic 7
* AHO - See Albright's hereditary osteodystrophy
* Ahumada Del Castillo syndrome
* AHUS - See Atypical hemolytic uremic syndrome
* AI1G - See Amelogenesis imperfecta hypoplastic type, IG
* AIC - See Aicardi syndrome
* Aicardi Goutieres syndrome - See Aicardi-Goutieres syndrome
* Aicardi syndrome
* Aicardi-Goutieres syndrome
* Aicardi-Goutieres syndrome type 1
* Aicardi-Goutieres syndrome type 2
* Aicardi-Goutieres syndrome type 3
* Aicardi-Goutieres syndrome type 4
* Aicardi-Goutieres syndrome type 5
* AIDS Dementia Complex
* AIDS dysmorphic syndrome
* AIDS related cognitive impairment - See AIDS Dementia Complex
* AIDS related lymphoma - See Lymphoma AIDSrelated
* AIDS-related lymphoma - See Primary effusion lymphoma
* AIED - See Autoimmune Inner Ear disease
* AIED - See Aland island eye disease
* AIH - See Autoimmune hepatitis
* AIH - See Amelogenesis imperfecta hypomaturation type
* AIH1 - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
* AIH3 ( formerly) - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
* AILT - See Angioimmunoblastic T-cell lymphoma
* AIMAH - See ACTH-independent macronodular adrenal hyperplasia
* Ainhum
* AION - See Optic neuropathy, anterior ischemic
* AIP - See Acute intermittent porphyria
* Airway-centered idiopathic interstitial pneumonia - See Airway-centered interstitial fibrosis
* Airway-centered interstitial fibrosis
* AIS - See Androgen insensitivity syndrome
* Akaba Hayasaka syndrome
* AKE - See Acrokeratoelastoidosis of Costa
* Akesson syndrome
* Aksu von Stockhausen syndrome
* AKU - See Alkaptonuria
* AL amyloidosis
* Al Awadi Rass Rothschild syndrome - See Ulna and fibula absence of with severe limb deficiency
* Al Awadi Teebi Farag syndrome - See Teebi Naguib Al Awadi syndrome
* Al Gazali Al Talabani syndrome - See Al Gazali syndrome
* Al Gazali Aziz Salem syndrome
* Al Gazali Khidr Prem Chandran syndrome
* Al Gazali Sabrinathan Nair syndrome
* Al Gazali syndrome
* Al Gazali-Nair syndrome - See Al Gazali Sabrinathan Nair syndrome
* ALA dehydratase deficiency pophyria - See Aminolevulinate dehydratase deficiency porphyria
* Alacrima-achalasia-adrenal insufficiency neurologic disorder - See Triple A syndrome
* Alagille syndrome
* Alagille-Watson syndrome - See Alagille syndrome
* Aland island eye disease
* Alanine-glyoxylate aminotransferase deficiency - See Primary hyperoxaluria type 1
* Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
* Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome - See Ulna and fibula absence of with severe limb deficiency
* Albers-Schoenberg disease - See Osteopetrosis
* Albers-Schonberg disease - See Osteopetrosis
* Albers-Schonberg osteopetrosis - See Osteopetrosis
* Albinism
* Albinism 1 - See Oculocutaneous albinism type 1
* Albinism 2 - See Oculocutaneous albinism type 2
* Albinism 3 - See Oculocutaneous albinism type 3
* Albinism deafness syndrome
* Albinism immunodeficiency
* Albinism ocular late onset sensorineural deafness
* Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells - See Hermansky-Pudlak syndrome
* Albinism with immune and hematologic defects - See Kotzot-Richter syndrome
* Albinism, Black lock, Cell migration disorder of the neurocytes of the gut and Deafness - See ABCD syndrome
* Albinism, minimal pigment type
* Albinism, Oculocutaneous - See Oculocutaneous albinism
* Albinism, oculocutaneous, type 2 - See Oculocutaneous albinism type 2
* Albinism, oculocutaneous, type 3 - See Oculocutaneous albinism type 3
* Albinism, yellow mutant type - See Oculocutaneous albinism type 1B
* Albinism-deafness of Tietz - See Tietz syndrome
* Albinism-Microcephaly digital anomalies syndrome - See Microcephaly-albinism-digital anomalies syndrome
* Albinoidism - See Oculocutaneous albinism type 2
* Albright hereditary osteodystrophy - See Albright's hereditary osteodystrophy
* Albright hereditary osteodystrophy with multiple hormone resistance - See Pseudohypoparathyroidism type 1A
* Albright hereditary osteodystrophy without multiple hormone resistance - See Pseudopseudohypoparathyroidism
* Albright hereditary osteodystrophy-like syndrome - See 2q37 deletion syndrome
* Albright like syndrome
* Albright syndrome - See McCune Albright syndrome
* Albright's disease - See McCune Albright syndrome
* Albright's hereditary osteodystrophy
* Alcaptonuria - See Alkaptonuria
* ALCL - See Anaplastic large cell lymphoma
* Alcohol induced encephalopathy - See Wernicke-Korsakoff syndrome
* Alcohol-Related Birth Defects (ARBD) - type - See Fetal Alcohol Spectrum Disorders
* Alcohol-Related Neurodevelopmental Disorder (ARND) - type - See Fetal Alcohol Spectrum Disorders
* ALD - See Adrenoleukodystrophy X-linked
* ALD childhood cerebral form - See Childhood-onset cerebral X-linked adrenoleukodystrophy
* Aldoa deficiency - See Glycogen storage disease type 12
* ALDOB deficiency - See Hereditary fructose intolerance
* Aldolase A deficiency - See Glycogen storage disease type 12
* Aldolase B deficiency - See Hereditary fructose intolerance
* Aldolase deficiency red cell - See Glycogen storage disease type 12
* Aldosterone deficiency 1 - See 18 Hydroxylase deficiency
* Aldosterone deficiency due to defect in 18 hydroxylase - See 18 Hydroxylase deficiency
* Aldred syndrome
* Aldrich syndrome - See Wiskott Aldrich syndrome
* ALDS - See Albinism deafness syndrome
* Aleukemic leukemia cutis - See Leukemia subleukemic
* Alexander disease
* Alexanders leukodystrophy - See Alexander disease
* Al-Gazali-Donnai-Mueller syndrome
* ALI - See Acute respiratory distress syndrome
* Alibert-Bazin syndrome - See Mycosis fungoides
* ALK+ histiocytosis
* Alkaptonuria
* Alkaptonuric ochronosis - See Alkaptonuria
* Alkyglycerone-Phosphate synthase deficiency - See Rhizomelic chondrodysplasia punctata, type 3
* Alkyldihydroxyacetonephosphate synthase deficiency - See Rhizomelic chondrodysplasia punctata, type 3
* ALL - See Acute lymphoblastic leukemia
* ALL with myeloid markers - See Acute biphenotypic leukemia
* Allain-Babin-Demarquez syndrome
* Allan-Herndon syndrome - See Allan-Herndon-Dudley syndrome
* Allan-Herndon-Dudley syndrome
* Allergic angiitis
* Allergic angiitis and granulomatosis - See Churg Strauss syndrome
* Allergic autoimmune thyroiditis
* Allergic bronchopulmonary aspergillosis
* Allergic bronchopulmonary mycosis - See Allergic bronchopulmonary aspergillosis
* Allergic encephalomyelitis
* Allergic granulomatosis - See Churg Strauss syndrome
* Allergic granulomatous and angiitis - See Churg Strauss syndrome
* Allergic interstitial pneumonitis - See Alveolitis, extrinsic allergic
* Allergic pneumonitis - See Alveolitis, extrinsic allergic
* Allgrove syndrome - See Triple A syndrome
* ALM - See Acral lentiginous melanoma
* ALMS - See Alström syndrome
* ALNH - See Angiofollicular lymph hyperplasia
* Aloi Tomasini Isaia syndrome
* Alopecia anosmia deafness hypogonadism syndrome - See Johnson neuroectodermal syndrome
*   Alopecia areata
* Alopecia areata universalis - See Alopecia universalis
*   Alopecia Celsi - See Alopecia areata
*   Alopecia Cicatrisata - See Alopecia areata
*   Alopecia Circumscripta - See Alopecia areata
* Alopecia congenita keratosis palmoplantaris
* Alopecia congenita with hyperkeratosis of the palms and soles - See Alopecia congenita keratosis palmoplantaris
* Alopecia congenital - See Congenital alopecia X-linked
* Alopecia contractures dwarfism mental retardation
* Alopecia deafness hypogonadism - See Crandall syndrome
* Alopecia epilepsy oligophrenia syndrome of Moynahan
* Alopecia immunodeficiency
* Alopecia macular degeneration growth retardation
* Alopecia mental retardation syndrome 1
* Alopecia mental retardation syndrome 2
*   Alopecia totalis
* Alopecia universalis
* Alopecia Universalis Congenita, Mari type - See Total Hypotrichosis, Mari type
* Alopecia universalis onychodystrophy vitiligo
* Alopecia universalis, onychodystrophy, and total vitiligo - See Alopecia universalis onychodystrophy vitiligo
* Alopecia with mild to moderate intellectual deficit - See Alopecia mental retardation syndrome 2
* Alopecia with severe intellectual deficit - See Alopecia mental retardation syndrome 1
* Alopecia, dysplastic nails, palmar and plantar hyperkeratosis - See Patel Bixler syndrome
* Alopecia, epilepsy, pyorrhea, mental subnormality
* Alopecia, macular degeneration, and growth retardation - See Kuster Majewski Hammerstein syndrome
* Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality - See Alopecia, epilepsy, pyorrhea, mental subnormality
* Alopecia-contractures-dwarfism mental retardation syndrome - See Alopecia contractures dwarfism mental retardation
* Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis - See Alpers syndrome
* Alpers disease - See Alpers syndrome
* Alpers progressive infantile poliodystrophy - See Alpers syndrome
* Alpers syndrome
* Alpers-Huttenlocher syndrome - See Alpers syndrome
* Alpha 1 antitrypsin deficiency - See Alpha 1-antitrypsin deficiency
* Alpha 1-antitrypsin deficiency
* Alpha Beta crystallinopathy (type) - See Myofibrillar myopathy
* Alpha high density lipoprotein deficiency disease - See Tangier disease
* Alpha KGD deficiency - See Alpha-ketoglutarate dehydrogenase deficiency
* Alpha mannosidase B deficiency - See Alpha-mannosidosis type 1
* Alpha mannosidosis type 2
* Alpha thalassemia - See Alpha-Thalassemia
* Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked - See Alpha-thalassemia x-linked intellectual disability syndrome
* Alpha-1,4-glucosidase deficiency - See Glycogen storage disease type 2
* Alpha-2 deficient collagen disease
* Alpha-2-plasmin inhibitor deficiency - See Anti-plasmin deficiency, congenital
* Alpha-aminoadipic semialdehyde synthase deficiency - See Hyperlysinemia
* Alpha-galactosidase A deficiency - See Fabry disease
* Alpha-ketoglutarate dehydrogenase deficiency
* ALPHA-LCAT deficiency - See Fish-eye disease
* Alpha-lecithin cholesterol acyltransferase deficiency - See Fish-eye disease
* Alpha-l-fucosidase deficiency - See Fucosidosis
* Alpha-L-Iduronidase deficiency - See Mucopolysaccharidosis type I
* Alpha-mannosidosis adult-onset form - See Alpha mannosidosis type 2
* Alpha-mannosidosis type 1
* Alpha-methylacetoaceticaciduria - See Beta ketothiolase deficiency
* Alpha-N-acetylgalactosaminidase deficiency adult onset - See Kanzaki disease
* Alpha-N-acetylgalactosaminidase deficiency type 2 - See Kanzaki disease
* Alpha-N-acetylgalactosaminidase deficiency, type 1 - See Schindler disease, type 1
* Alpha-sarcoglycanopathy - See Limb-girdle muscular dystrophy, type 2D
* Alpha-Thalassemia
* Alpha-thalassemia x-linked intellectual disability syndrome
* Alpha-thalassemia-abnormal morphogenesis
* Alport syndrome
* Alport syndrome autosomal recessive - See Autosomal recessive Alport syndrome
* Alport syndrome dominant type - See Autosomal dominant Alport syndrome
* Alport syndrome recessive type - See Autosomal recessive Alport syndrome
* Alport syndrome with diffuse leiomyomatosis - See Leiomyomatosis, esophageal and vulval, with nephropathy
* Alport syndrome, X-linked - See Alport syndrome
* ALPS - See Autoimmune lymphoproliferative syndrome
* ALPS2B - See Caspase-8 deficiency
* Al-Qeel Sewairi syndrome - See Torg Winchester syndrome
* ALS - See Amyotrophic lateral sclerosis
* ALS1 - See Amyotrophic lateral sclerosis
* ALS10 - See Amyotrophic lateral sclerosis type 10
* ALS11 - See Amyotrophic lateral sclerosis type 11
* ALS2 - See Amyotrophic lateral sclerosis type 2
* ALS3 - See Amyotrophic lateral sclerosis type 3
* ALS4 - See Amyotrophic lateral sclerosis type 4
* ALS5 - See Amyotrophic lateral sclerosis type 5
* ALS6 - See Amyotrophic lateral sclerosis type 6
* ALS7 - See Amyotrophic lateral sclerosis type 7
* ALS8 - See Amyotrophic lateral sclerosis type 8
* ALS9 - See Amyotrophic lateral sclerosis type 9
* Alsing syndrome
* ALSS - See Alström syndrome
* Alstrom syndrome - See Alström syndrome
* Alström syndrome
* Alstrom's syndrome - See Alström syndrome
* Alternating hemiplegia - See Alternating hemiplegia of childhood
* Alternating hemiplegia of childhood
* Alternating hemiplegia syndrome - See Alternating hemiplegia of childhood
* Altitude anoxia - See Acute mountain sickness
* Altitude sickness - See Acute mountain sickness
* Aluminium lung
* Alveolar capillary dysplasia
* Alveolar capillary dysplasia with misalignment of pulmonary veins - See Alveolar capillary dysplasia
* Alveolar capillary dysplasia with pulmonary venous misalignment - See Alveolar capillary dysplasia
* Alveolar echinococcosis
* Alveolar hypoventilation syndrome - See Idiopathic pulmonary hemosiderosis
* Alveolar rhabdomyosarcoma - See Rhabdomyosarcoma alveolar
* Alveolar soft part sarcoma
* Alveolitis, extrinsic allergic
* Alveolitis, extrinsic allergic - See Alveolitis, extrinsic allergic
* Alves syndrome - See Arthrogryposis and ectodermal dysplasia
* Alves-dos Santos-Castelo syndrome - See Arthrogryposis and ectodermal dysplasia
*   Alzheimer disease
* Alzheimer disease 1 - See Alzheimer disease type 1
* Alzheimer disease 3 - See Alzheimer disease type 3
* Alzheimer disease 4 - See Alzheimer disease type 4
* Alzheimer disease associated with APOE E4 - See Alzheimer disease type 2
* Alzheimer disease early onset type 3 - See Alzheimer disease type 3
* Alzheimer disease familial
* Alzheimer disease familial type 4 - See Alzheimer disease type 4
* Alzheimer disease type 1
* Alzheimer disease type 2
* Alzheimer disease type 3
* Alzheimer disease type 4
* Alzheimer's disease without neurofibrillary tangles
* Amastia - See Absent breasts and nipples
* Amaurosis congenita cone-rod type with congenital hypertrichosis
* Amaurosis congenita of Leber, type 1 - See Leber congenital amaurosis 1
* Amaurosis congenita of Leber, type 10 - See Leber congenital amaurosis 10
* Amaurosis congenita of Leber, type 11 - See Leber congenital amaurosis 11
* Amaurosis congenita of Leber, type 12 - See Leber congenital amaurosis 12
* Amaurosis congenita of Leber, type 2 - See Leber congenital amaurosis 2
* Amaurosis congenita of Leber, type 3 - See Leber congenital amaurosis 3
* Amaurosis congenita of Leber, type 4 - See Leber congenital amaurosis 4
* Amaurosis congenita of Leber, type 5 - See Leber congenital amaurosis 5
* Amaurosis congenita of Leber, type 9 - See Leber congenital amaurosis 9
* Amaurosis fugax
* Ambras syndrome
* AMC, distal, X-linked - See Arthrogryposis multiplex congenita, distal, X-linked
* AMC, neurogenic type - See Arthrogryposis multiplex congenita neurogenic type
* AMCD1 - See Arthrogryposis multiplex congenita distal type 1
* AMCN - See Arthrogryposis multiplex congenita neurogenic type
*   AMD - See Macular degeneration
* AMD - See Adrenomyodystrophy
* AMDG - See Chondrodysplasia, Grebe type
* AMDM - See Acromesomelic dysplasia Maroteaux type
* AME - See Apparent mineralocorticoid excess
* AME 1 - See Apparent mineralocorticoid excess
* Amebiasis
* Amebic dysentery - See Amebiasis
* Amelia cleft lip palate hydrocephalus iris coloboma
* Ameloblastic carcinoma
* Ameloblastoma - See Adenoameloblastoma
* Amelogenesis imperfecta
* Amelogenesis imperfecta 3, hypoplastic type (formerly) - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
* Amelogenesis imperfecta and nephrocalcinosis - See Amelogenesis imperfecta hypoplastic type, IG
* Amelogenesis imperfecta and platyspondyly - See Verloes Bourguignon syndrome
* Amelogenesis imperfecta hypomaturation type
* Amelogenesis imperfecta hypoplastic type, IG
* Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
* Amelogenesis imperfecta local hypoplastic
* Amelogenesis imperfecta nephrocalcinosis
* Amelogenesis imperfecta pigmented hypomaturation type
* Amelogenesis imperfecta X-linked 1 - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
* Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
* Ameloonychohypohidrotic syndrome
* Amenorrhea galactorrhea FSH decrease syndrome - See Ahumada Del Castillo syndrome
* Amenorrhea-galactorrhea, nonpuerperal - See Forbes Albright syndrome
*   American trypanosomiasis - See Chagas disease
* AMI - See Mesenteric artery ischemia
*   Amino acid disorders - See Aminoacidopathies
* Amino acid metabolism, inborn errors - See Inborn amino acid metabolism disorder
* Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
*   Aminoacidopathies
* Aminoaciduria
* Aminoacylase 1 deficiency
* Aminoacylase 2 deficiency - See Canavan disease
* Aminolevulinate dehydratase deficiency porphyria
* Aminopterin embryopathy syndrome - See Fetal aminopterin syndrome
* Aminopterin fetopathy syndrome - See Fetal aminopterin syndrome
* Aminopterin syndrome - See Fetal aminopterin syndrome
* Aminopterin syndrome sine aminopterin - See Pseudoaminopterin syndrome
* Amish infantile epilepsy syndrome
* Amish lethal microcephaly
* Amish Nemaline Myopathy - See Nemaline myopathy 5
* AML adult - See Acute myeloid leukemia, adult
* AML with lymphoid markers - See Acute biphenotypic leukemia
* AML-M6 - See Acute erythroid leukemia
* AMN - See Adrenomyeloneuropathy
* Amniotic band syndrome
* Amniotic bands sequence - See Amniotic band syndrome
* Amoebiasis due to Entamoeba histolytica - See Amebiasis
* Amoebic dysentery due to Entamoeba histolytica - See Amebiasis
* AMP deaminase 1 deficiency - See Adenosine monophosphate deaminase 1 deficiency
* Ampola syndrome
* AMPPE - See Acute posterior multifocal placoid pigment epitheliopathy
* Ampullary somatostatinoma - See Somatostatinoma
* AMR syndrome 1 - See Alopecia mental retardation syndrome 1
* AMR syndrome 2 - See Alopecia mental retardation syndrome 2
* AMS - See Ablepharon macrostomia syndrome
* Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type 3
* Amyloid A amyloidosis - See Amyloidosis AA
* Amyloid angiopathy - See Amyloidosis cerebral
* Amyloid corneal dystrophy, Japanese type - See Amyloidosis corneal
* Amyloid cranial neuropathy with lattice corneal dystrophy - See Familial amyloidosis, Finnish type
* Amyloid neuropathy
* Amyloidosis 8 - See Amyloidosis familial visceral
* Amyloidosis 9 - See Amyloidosis primary cutaneous
* Amyloidosis AA
* Amyloidosis AL - See AL amyloidosis
* Amyloidosis Beta2M
* Amyloidosis bronchopulmonary
* Amyloidosis cerebral
* Amyloidosis cerebral with spongiform encephalopathy - See Gerstmann-Straussler-Scheinker disease
* Amyloidosis corneal
* Amyloidosis cutis nodularis atrophicans - See Amyloidosis nodular localized cutaneous
* Amyloidosis dialysis-related - See Amyloidosis Beta2M
* Amyloidosis familial cutaneous lichen - See Amyloidosis primary cutaneous
* Amyloidosis familial renal - See Amyloidosis familial visceral
* Amyloidosis familial visceral
* Amyloidosis hereditary - See Hereditary amyloidosis
* Amyloidosis IX - See Amyloidosis primary cutaneous
* Amyloidosis nodular localized cutaneous
* Amyloidosis of gingiva and conjunctiva with mental retardation - See Amyloidosis of gingiva and conjunctiva, with mental retardation
* Amyloidosis of gingiva and conjunctiva, with mental retardation
* Amyloidosis primary cutaneous
* Amyloidosis primary systemic - See AL amyloidosis
* Amyloidosis systemic nonneuropathic - See Amyloidosis familial visceral
* Amyloidosis Transthyretin related - See Familial transthyretin amyloidosis
* Amyloidosis V - See Familial amyloidosis, Finnish type
* Amyloidosis VIII - See Amyloidosis familial visceral
* Amyloidosis, hereditary, transthyretin-related - See Familial transthyretin amyloidosis
* Amylopectinosis - See Glycogen storage disease type 4
* Amyopathic dermatomyositis
* Amyoplasia mandibulofacial dysostosis
* Amyotonia congenita
* Amyotrophic lateral sclerosis
* Amyotrophic lateral sclerosis 10 - See Amyotrophic lateral sclerosis type 10
* Amyotrophic lateral sclerosis 11 - See Amyotrophic lateral sclerosis type 11
* Amyotrophic lateral sclerosis 3 - See Amyotrophic lateral sclerosis type 3
* Amyotrophic lateral sclerosis 4 - See Amyotrophic lateral sclerosis type 4
* Amyotrophic lateral sclerosis 5 - See Amyotrophic lateral sclerosis type 5
* Amyotrophic lateral sclerosis 7 - See Amyotrophic lateral sclerosis type 7
* Amyotrophic lateral sclerosis 8 - See Amyotrophic lateral sclerosis type 8
* Amyotrophic lateral sclerosis 9 - See Amyotrophic lateral sclerosis type 9
* Amyotrophic lateral sclerosis type 1 - See Amyotrophic lateral sclerosis
* Amyotrophic lateral sclerosis type 10
* Amyotrophic lateral sclerosis type 11
* Amyotrophic lateral sclerosis type 2
* Amyotrophic lateral sclerosis type 3
* Amyotrophic lateral sclerosis type 4
* Amyotrophic lateral sclerosis type 5
* Amyotrophic lateral sclerosis type 6
* Amyotrophic lateral sclerosis type 7
* Amyotrophic lateral sclerosis type 8
* Amyotrophic lateral sclerosis type 9
* Amyotrophic lateral sclerosis, juvenile - See Juvenile amyotrophic lateral sclerosis
* Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam - See Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
* Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
* Amyotrophy fat tissue anomaly - See Nakajo Nishimura syndrome
* Amyotrophy, hereditary neuralgic, with predilection for brachial plexus - See Hereditary neuralgic amyotrophy
* Amyotrophy, neurogenic scapuloperoneal, New England type
* AN - See Acanthosis nigricans
* Anaerobic actinomyces infection - See Actinomycosis
* Anal anomalies, renal tract abnormalities, genital malformations, and syndactyly - See Green Sandford Davison syndrome
* Anal atresia - See Anorectal atresia
* Anal cancer
* Anal sphincter dysplasia
* Analphalipo-proteinemia - See Tangier disease
* Anaphylactoid purpura - See Henoch-Schonlein purpura
* Anaplastic astrocytoma
* Anaplastic ependymoma
* Anaplastic ganglioglioma
* Anaplastic large cell lymphoma
* Anaplastic lymphoma kinase positive histiocytosis - See ALK+ histiocytosis
* Anaplastic oligoastrocytoma
* Anaplastic oligodendroglioma
* Anaplastic plasmacytoma
* Anaplastic skeletal plasmacytoma (type) - See Anaplastic plasmacytoma
* Anaplastic small cell lymphoma
* Anaplastic solitary extramedullary plasmacytoma of the cecum (type) - See Anaplastic plasmacytoma
* Anaplastic thyroid cancer - See Thyroid cancer, anaplastic
* Anaplastic thyroid carcinoma - See Thyroid cancer, anaplastic
* Anauxetic dysplasia
* Ancell-Spiegler cylindromas - See Brooke-Spiegler syndrome
* ANCL - See Adult neuronal ceroid lipofuscinosis
* Ancylostoma duodenale infection - See Ancylostomiasis
* Ancylostomiasis
* Andermann syndrome
* Andersen cardiodysrhythmic periodic paralysis - See Andersen-Tawil syndrome
* Andersen disease - See Glycogen storage disease type 4
* Andersen syndrome - See Andersen-Tawil syndrome
* Andersen-Tawil syndrome
* Anderson-Fabry disease - See Fabry disease
* Anderson-Warburg syndrome - See Norrie disease
* Andre syndrome - See Oto-palato-digital syndrome type 2
* Androblastoma of ovary - See Sertoli-leydig cell tumors
* Androgen insensitivity syndrome
* Androgen insensitivity syndrome, complete - See Complete androgen insensitivity syndrome
* Androgen insensitivity syndrome, mild
* Androgen insensitivity syndrome, partial - See Partial androgen insensitivity syndrome
* Androgen insensitivity, partial, with or without breast cancer - See Partial androgen insensitivity syndrome
* Androgen receptor deficiency - See Androgen insensitivity syndrome
* Androgen resistance syndrome, partial - See Partial androgen insensitivity syndrome
*   Androgenetic alopecia
*   Androgenic alopecia - See Androgenetic alopecia
* Anemia aplastic - See Aplastic anemia
* Anemia congenital erythroid hypoplastic - See Diamond-Blackfan anemia
* Anemia congenital sideroblastic B6-responsive - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
* Anemia Diamond Blackfan type - See Diamond-Blackfan anemia
* Anemia Diamond-Blackfan 2 - See Diamond-Blackfan anemia 2
* Anemia Diamond-Blackfan 3 - See Diamond-Blackfan anemia 3
* Anemia due to Adenosine triphosphatase deficiency
* Anemia hemolytic autoimmune - See Autoimmune hemolytic anemia
* Anemia hemolytic congenital - See Congenital hemolytic anemia
* Anemia hereditary sideroblastic - See X-linked sideroblastic anemia
* Anemia sex-linked hypochromic sideroblastic - See X-linked sideroblastic anemia
*   Anemia sideroblastic - See Sideroblastic anemia
* Anemia sideroblastic and spinocerebellar ataxia
* Anemia, dyserythropoietic, congenital type 1 - See Congenital dyserythropoietic anemia type 1
* Anemia, dyserythropoietic, congenital type 2 - See Congenital dyserythropoietic anemia type 2
* Anemia, hemolytic, cold antibody - See Cold agglutinin disease
* Anemia, hypochromic microcytic, with defect in iron metabolism - See Iron-refractory iron deficiency anemia
* Anencephaly
* Anencephaly and spina bifida X-linked
* Anesthesia related hyperthermia - See Malignant hyperthermia
* Anesthetic-induced malignant hyperpyrexia in children - See King Denborough syndrome
* Aneurysm - osteoarthritis syndrome - See Loeys-Dietz syndrome type 3
* Aneurysm of sinus of Valsalva
* Aneurysm, abdominal aortic - See Abdominal aortic aneurysm
* Aneurysm, intracranial berry, 2
* Aneurysmal bone cysts
* Aneurysms-osteoarthritis syndrome - See Loeys-Dietz syndrome type 3
* Angel shaped phalangoepiphyseal dysplasia
* Angelman syndrome
* Angelman-like syndrome x-linked - See Christianson syndrome
* Angel-shaped phalango-epiphyseal dysplasia - See Angel shaped phalangoepiphyseal dysplasia
*   Angiitis - See Vasculitis
* Angiitis cutaneous leukocytoclastic - See Cutaneous necrotizing vasculitis
* Angioedema, acquired - See Acquired angioedema
* Angioedema, hereditary - See Hereditary angioedema
* Angioedema, vibratory - See Vibratory angioedema
* Angiofollicular ganglionic hyperplasia - See Castleman's disease
* Angiofollicular lymph hyperplasia - See Castleman's disease
* Angiofollicular lymph hyperplasia
* Angiofollicular lymph node hyperplasia - See Angiofollicular lymph hyperplasia
* Angioimmunoblastic lymphadenopathy with dysproteinemia
* Angioimmunoblastic T-cell lymphoma
* Angioimmunoblastic with dysproteinemia lymphadenopathy - See Angioimmunoblastic lymphadenopathy with dysproteinemia
* Angiokeratoma corporis diffusum - See Fabry disease
* Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis - See McCallum Macadam Johnston syndrome
* Angiokeratoma mental retardation coarse face
* Angiokeratoma, diffuse - See Fabry disease
* Angiolymphoid hyperplasia with eosinophilia - See Kimura disease
* Angioma hereditary neurocutaneous
* Angioma serpiginosum - See Angioma serpiginosum, X-linked
* Angioma serpiginosum, autosomal dominant
* Angioma serpiginosum, X-linked
* Angioma tufted - See Tufted angioma
* Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
* Angiomatosis, leptomeningeal capillary venous
* Angiomatous lymphoid hamartoma
* Angiomyomatous Hamartoma
* Angio-osteohypertrophy syndrome - See Klippel-Trenaunay syndrome
* Angiosarcoma associated with chronic lymphedema - See Stewart Treves syndrome
* Angiosarcoma of the breast
* Angiosarcoma of the liver
* Angiosarcoma of the scalp
* Angiostrongyliasis
* ANH1 - See X-linked sideroblastic anemia
* Anhalt - Spinal Dysplasia - See Spinal dysostosis type Anhalt
* Anhalt - Spinal Dysplasia, Autosomal Dominant - See Spinal dysostosis type Anhalt
* Anhidrotic ectodermal dysplasia - See Hypohidrotic ectodermal dysplasia
* Anhidrotic ectodermal dysplasia with immune deficiency - See Hypohidrotic ectodermal dysplasia with immune deficiency
* Anhidrotic ectodermal dysplasia X-linked - See X-linked hypohidrotic ectodermal dysplasia
* Anhidrotic ectodermal dysplasia, autosomal recessive - See Hypohidrotic ectodermal dysplasia autosomal recessive
* ANIB2 - See Aneurysm, intracranial berry, 2
* ANIC - See Congenital anosmia
* Aniridia
* Aniridia absent patella
* Aniridia associated with mental retardation and other eye abnormalities - See Walker Dyson syndrome
* Aniridia ataxia renal agenesis psychomotor retardation
* Aniridia mental retardation syndrome
* Aniridia partial with unilateral renal agenesis and psychomotor retardation - See Aniridia renal agenesis psychomotor retardation
* Aniridia ptosis mental retardation obesity familial
* Aniridia renal agenesis psychomotor retardation
* Aniridia, cerebellar ataxia and mental deficiency - See Gillespie syndrome
* Aniridia, ectopia lentis, abnormal upper incisors and mental retardation - See Zazam Sheriff Phillips syndrome
* Anisakiasis
* Anisakis infection - See Anisakiasis
* Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type - See Dyssegmental dysplasia Rolland-Desbuquois type
* Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker type
* ANKL - See Aggressive NK cell leukemia
* Ankle defects short stature
* Ankyloblepharon ectodermal defects cleft lip/palate - See Hay-Wells syndrome
* Ankyloblepharon filiforme adnatum - See Ankyloblepharon filiforme adnatum cleft palate
* Ankyloblepharon filiforme adnatum cleft palate
* Ankyloblepharon filiforme congenitum - See Ankyloblepharon filiforme adnatum cleft palate
* Ankyloblepharon filiforme imperforate anus
*   Ankylosing spondylitis
*   Ankylosing spondyloarthritis - See Ankylosing spondylitis
*   Ankylosing vertebral hyperostosis with tylosis - See Diffuse idiopathic skeletal hyperostosis
* Ankylosis of teeth
* Ankylosis of the temporomandibular joint (TMJ) - See Temporomandibular ankylosis
* ANM - See Nemaline myopathy 5
* Annular constricting bands
* Annular pancreas
* Annuloaortic ectasia - See Familial thoracic aortic aneurysm and dissection
* Anodontia
* Anodontia of permanent dentition - See Anodontia
* Anomalous insertion of extensor tendons of fingers - See Tendons, extensor, of fingers, anomalous insertion of
* Anomalous origin of right pulmonary artery familial
* Anomalous pulmonary venous return - See Pulmonary venous return anomaly
* Anomalous ventricular excitation syndrome - See Wolff-Parkinson-White syndrome
* Anonychia - See Anonychia congenita
* Anonychia and absence/hypoplasia of distal phalanges - See Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* Anonychia congenita
* Anonychia ectrodactyly
* Anonychia onychodystrophy
* Anonychia total with microcephaly
* Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
* Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* ANOP2 (formerly) - See Oculofaciocardiodental syndrome
* Anophthalmia cleft lip palate hypothalamic disorder
* Anophthalmia cleft palate micrognathia
* Anophthalmia clinical with associated anomalies - See Microphthalmia syndromic 3
* Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia - See Microphthalmia syndromic 6
* Anophthalmia esophageal atresia cryptorchidism
* Anophthalmia esophageal genital syndrome - See Microphthalmia syndromic 3
* Anophthalmia megalocornea cardiopathy skeletal anomalies
* Anophthalmia microcephaly hypogonadism
* Anophthalmia microphthalmia esophageal atresia - See Microphthalmia syndromic 3
* Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies
* Anophthalmia plus syndrome
* Anophthalmia Waardenburg syndrome - See Anophthalmos with limb anomalies
* Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder - See Anophthalmia plus syndrome
* Anophthalmia/microphthalmia and pulmonary hypoplasia - See Microphthalmia syndromic 9
* Anophthalmos with limb anomalies
* Anophthalmos-syndactyly - See Anophthalmos with limb anomalies
* Anorchia
* Anorectal atresia
* Anorectal malformation - See Anorectal atresia
* Anorectal stenosis - See Anorectal atresia
* Anosmic hypogonadism - See Kallmann syndrome
* Anosmic idiopathic hypogonadotropic hypogonadism - See Kallmann syndrome
* ANOTHER syndrome - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Anotia facial palsy cardiac defect
* Anotia/microtia, upslanted fissures, sutural synostosis,multiple - See Wisconsin syndrome
* Antecubital pterygium
* Antenatal Bartter Syndrome type 1 - See Bartter syndrome antenatal type 1
* Anterior cervical hypertrichosis - See Hypertrichosis, anterior cervical
* Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis - See Jung Wolff Back Stahl syndrome
* Anterior chamber cleavage syndrome - See Axenfeld-Rieger syndrome type 3
* Anterior ischemic optic neuropathy - See Optic neuropathy, anterior ischemic
* Anterior pituitary insufficiency, familial
* Anterior polar cataract 2
* Anterior polar cataracts 1 - See Cataract anterior polar dominant
* Anterior segment mesenchymal dysgenesis
* Anterior segment ocular dysgenesis - See Anterior segment mesenchymal dysgenesis
* Anterior spinal artery stroke
* Anterior submucous laryngeal cleft (subtype) - See Laryngeal cleft
* Anterior uveitis
* Anthrax
* Anthrax, skin type - See Cutaneous anthrax
* Antibody Deficiency - See Primary agammaglobulinemia
* Antigen-peptide-transporter 2 deficiency
* Anti-glomerular basement membrane antibody disease - See Goodpasture syndrome
* Anti-HLA hyperimmunization
* Antihypertensive drugs antenatal infection
* Anti-IFN-gamma autoantibody syndrome - See Anti-interferon-gamma autoantibody syndrome
* Anti-interferon-gamma autoantibody syndrome
* Antiphospholipid antibody syndrome - See Antiphospholipid syndrome
* Antiphospholipid syndrome
* Antiplasmin deficiency, congenital - See Anti-plasmin deficiency, congenital
* Anti-plasmin deficiency, congenital
* Antisynthetase syndrome
* Antithrombin deficiency, congenital - See Congenital antithrombin deficiency
* Antithrombin III Deficiency - See Congenital antithrombin deficiency type 3
* Antley Bixler syndrome
* Anton-Babinski syndrome - See Anton's syndrome
* Antoni's palsy - See Bell's palsy
* Anton's syndrome
* Antopol disease - See Danon disease
* ANUG - See Acute necrotizing ulcerative gingivitis
* Anus, imperforate, with hand, foot and ear anomalies - See Townes-Brocks syndrome
* AO2 - See Atelosteogenesis type 2
* AO3 - See Atelosteogenesis type 3
* AOA - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* AOA1 - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* AOA2 - See Spinocerebellar ataxia autosomal recessive 1
* AOCH - See Acromegaloid features, overgrowth, cleft palate and hernia
* AOI - See Atelosteogenesis type 1
* AOII - See Atelosteogenesis type 2
* AOIII - See Atelosteogenesis type 3
* AOM - See Stickler syndrome type 1
* AOMS1 - See Abdominal obesity metabolic syndrome
* AORRP (type) - See Recurrent respiratory papillomatosis
* Aorta-pulmonary artery fistula
* Aortic aneurysm syndrome, Loeys-Dietz type - See Loeys-Dietz syndrome
* Aortic aneurysm, familial thoracic 3 - See Loeys-Dietz syndrome type 2B
* Aortic aneurysm, familial thoracic 4
* Aortic aneurysm, familial thoracic 5 - See Loeys-Dietz syndrome type 2A
* Aortic aneurysm/aortic dissection and patent ductus arteriosus - See Aortic aneurysm, familial thoracic 4
* Aortic arch anomaly with peculiar facies and mental retardation
* Aortic arch interruption
* Aortic arch syndrome - See Takayasu arteritis
* Aortic arches defect
* Aortic coarctation
* Aortic dissection lentiginosis
* Aortic stenosis - See Aortic valve stenosis
* Aortic supravalvular stenosis - See Supravalvular aortic stenosis
* Aortic valve stenosis
* Aortic valves stenosis of the child
* Aortic-pulmonary window - See Aortopulmonary window
* Aorto-pulmonary artery fistula - See Aorta-pulmonary artery fistula
* Aortopulmonary fistula - See Aorta-pulmonary artery fistula
* Aortopulmonary septal defect - See Aortopulmonary window
* Aortopulmonary window
* Aorto-pulmonary window - See Aortopulmonary window
* AOS - See Adams Oliver syndrome
* AOT - See Adenoameloblastoma
* AP4 deficiency syndrome - See Spastic paraplegia 51
* APBD - See Polyglucosan body disease, adult
*   APC resistance, Leiden type - See Factor V Leiden thrombophilia
* APCA - See Episodic ataxia with nystagmus
* APD - See Autoimmune progesterone dermatitis
* APDS - See PASLI disease
* Apert like polydactyly syndrome
* Apert syndrome
* Apert syndrome with polydactyly of hands and feet - See Maroteaux Fonfria syndrome
* Apert-Crouzon disease - See Apert syndrome
* Aphakia, congenital primary - See Congenital primary aphakia
* Aphalangia partial with syndactyly and duplication of metatarsal IV
* Aphalangy of the hands and feet, hemivertebrae, and visceral malformations - See Johnson Munson syndrome
* Aphalangy with Hemivertebrae - See Johnson Munson syndrome
* Aphasia, primary progressive - See Primary progressive aphasia
* Aphthous stomatitis
* Aphthous Stomatitis, Recurrent - See Sutton disease 2
* Aphthous Ulcer, Recurrent - See Sutton disease 2
* Apical ballooning syndrome - See Stress cardiomyopathy
* Apical dystrophy - See Coloboma of macula with type B brachydactyly
* APL - See Barraquer-Simons syndrome
* Aplasia cutis autosomal recessive
* Aplasia cutis cleft palate epidermolysis - See Jones Hersh Yusk syndrome
* Aplasia cutis congenita
* Aplasia cutis congenita dominant
* Aplasia cutis congenita intestinal lymphangiectasia
* Aplasia cutis congenita nonsyndromic - See Aplasia cutis congenita
* Aplasia cutis congenita of limbs recessive
* Aplasia cutis congenita recessive
* Aplasia cutis congenita with epibulbar dermoids - See Oculoectodermal syndrome
* Aplasia cutis congenita with gastrointestinal atresia - See Junctional epidermolysis bullosa with pyloric atresia
* Aplasia cutis congenita with terminal transverse defects of limbs, and skull defects - See Adams Oliver syndrome
* Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly - See Jones Hersh Yusk syndrome
* Aplasia cutis myopia
* Aplasia of cerebellar vermis - See Spinocerebellar ataxia 29
* Aplasia of the cord - See Limb-body wall complex
* Aplasia of tibia with ectrodactyly - See Cleft hand absent tibia
* Aplasia of trochlea of the humerus - See Trochlea of the humerus aplasia of
* Aplastic anemia
* Aplastic anemia idiopathic - See Aplastic anemia
* APMPPE - See Acute posterior multifocal placoid pigment epitheliopathy
* APMR1 - See Alopecia mental retardation syndrome 1
* APMR2 - See Alopecia mental retardation syndrome 2
* Apnea of prematurity - See Infantile apnea
* Apnea, Postanesthetic - See Pseudocholinesterase deficiency
* Apo A-I deficiency
* Apocrine carcinoma
* Apocrine miliaria - See Fox-Fordyce disease
* Apolipoprotein B deficiency - See Abetalipoproteinemia
* Apolipoprotein C 2I deficiency
* Apparent Apert syndrome with polydactyly - See Maroteaux Fonfria syndrome
* Apparent mineralocorticoid excess
* Appelt-Gerken-Lenz syndrome - See Roberts syndrome
* Apple peel small bowel syndrome - See Jejunal atresia
* Apple peel syndrome - See Jejunal atresia
* Apple-peel intestinal atresia - See Jejunal atresia
* Apraxia
* Apraxia, oculomotor, with congenital contractures and muscle atrophy - See Wieacker syndrome
* Aprosencephaly syndrome - See XK aprosencephaly
* Aprosencephaly-atelencephaly syndrome - See XK aprosencephaly
* APRT deficiency - See Dihydroxyadeninuria
* APS - See Antiphospholipid syndrome
* APS 1 - See Autoimmune polyglandular syndrome type 1
* APS2 - See Autoimmune polyglandular syndrome type 2
* APS3 - See Autoimmune polyglandular syndrome type 3
* APSB - See Jejunal atresia
* APUD (amine precursor uptake and decarboxylation) - See APUDoma
* APUDoma
* APVR - See Pulmonary venous return anomaly
* Aquagenic pruritus
* Aquagenic urticaria
* Aqueductal stenosis, X-linked - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* AR dRTA with hearing loss - See Renal tubular acidosis with progressive nerve deafness
* AR dRTA wth deafness - See Renal tubular acidosis with progressive nerve deafness
* AR hyperimmunoglobulin E syndrome - See Autosomal recessive hyper IgE syndrome
* Arachindonic acid, absence of
* Arachnodactyly mental retardation dysmorphism
* Arachnodactyly, abnormal ossification and mental retardation - See Kosztolanyi syndrome
* Arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones - See Bhaskar Jagannathan syndrome
* Arachnodactyly, contractural Beals type - See Congenital contractural arachnodactyly
* Arachnodactyly, joint laxity, and spondylolisthesis - See Jaffer Beighton syndrome
* Arachnodactyly, receding lower jaw and joint laxity of hands/feet - See Achard syndrome
* Arachnoid cysts
* Arachnoid cysts, intracranial - See Arachnoid cysts
* Arachnoid cysts, spinal intradural - See Spinal intradural arachnoid cysts
* Arachnoiditis
* Arakawa syndrome 1 - See Glutamate formiminotransferase deficiency
* Arakawa's syndrome 2
* Aran Duchenne spinal muscular atrophy - See Adult progressive spinal muscular atrophy Aran Duchenne type
* Arbovirosis
* Arbovirus A Chikungunya type - See Chikungunya
* Arbovirus fever - See Arbovirosis
* ARC syndrome - See Arthrogryposis renal dysfunction cholestasis syndrome
* ARCA1 - See Spinocerebellar ataxia autosomal recessive 8
* ARCL2A - See Cutis laxa, autosomal recessive type 2A
* ARDS - See Acute respiratory distress syndrome
* AREDYLD
* Aredyld Syndrome - See AREDYLD
* Aregenerative anemia chronic congenital - See Diamond-Blackfan anemia
* Arena syndrome
* ARG1 deficiency - See Arginase deficiency
* Arginase deficiency
* Arginine:glycine amidinotransferase deficiency - See AGAT deficiency
* Argininemia - See Arginase deficiency
* Arginino succinase deficiency - See Argininosuccinic aciduria
* Argininosuccinate acidemia - See Argininosuccinic aciduria
* Argininosuccinate lyase deficiency - See Argininosuccinic aciduria
* Argininosuccinate synthetase deficiency - See Citrullinemia type I
* Argininosuccinic acid lyase deficiency - See Argininosuccinic aciduria
* Argininosuccinic aciduria
* Argininosuccinicaciduria - See Argininosuccinic aciduria
* Argonz Ahumada Del Castillo syndrome - See Ahumada Del Castillo syndrome
* Argonz Del Castillo syndrome - See Ahumada Del Castillo syndrome
* Argyrophil myenteric plexus deficiency of - See Visceral neuropathy familial
* AR-HIES - See Autosomal recessive hyper IgE syndrome
* Arhinia choanal atresia microphthalmia
* ARIH - See Ichthyosis with hypotrichosis, autosomal recessive
* Arima syndrome - See Joubert syndrome with oculorenal anomalies
* Aristolochic acid nephropathy - See Balkan endemic nephropathy
* Arkless-Graham syndrome - See Acrodysostosis
*   ARM - See Macular degeneration
* ARMS - See Rhabdomyosarcoma alveolar
* Arndt-Gottron disease - See Scleromyxedema
*   Arnold Chiari malformation - See Chiari malformation
*   Arnold Chiari malformation type I - See Chiari malformation type 1
* Arnold Chiari malformation type II - See Chiari malformation type 2
* Arnold Chiari malformation type III - See Chiari malformation type 3
* Arnold Chiari malformation type IV - See Chiari malformation type 4
* Arnold Stickler Bourne syndrome
* Arnold-Chiari malformation - See Chiari malformation type 2
*   Arnold-Chiari malformations - See Chiari malformation
* Aromatase deficiency
* Aromatic amino acid decarboxylase deficiency
* Aromatic L-amino acid decarboxylase deficiency - See Aromatic amino acid decarboxylase deficiency
* ARPA familial - See Anomalous origin of right pulmonary artery familial
* ARPKD - See Autosomal recessive polycystic kidney disease
* Arrest of spermatogenesis - See Spermatogenesis arrest
* Arrhenoblastoma - See Sertoli-leydig cell tumors
* Arrhenoblastoma of ovary - See Sertoli-leydig cell tumors
* Arrhinia
* Arrhythmogenic right ventricular cardiomyopathy - See Arrhythmogenic right ventricular dysplasia
* Arrhythmogenic right ventricular dysplasia
* Arroyo Garcia Cimadevilla syndrome
* ARSA deficiency - See Metachromatic leukodystrophy
* ARSACS - See Spastic ataxia Charlevoix-Saguenay type
* ARSB deficiency - See Mucopolysaccharidosis type VI
* Arterial calcification due to CD73 deficiency - See ACDC
* Arterial calcification of infancy
* Arterial tortuosity - See Arterial tortuosity syndrome
* Arterial tortuosity syndrome
* Arteriohepatic dysplasia - See Alagille syndrome
* Arteriomesenteric duodenal compression syndrome - See Superior mesenteric artery syndrome
* Arteriosclerosis, retina - See Retinopathy, arteriosclerotic
* Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes - See Wyburn Mason's syndrome
* Arteriovenous malformation, pulmonary - See Pulmonary arteriovenous malformation
* Arteritis cranialis - See Giant cell arteritis
* Arteritis temporalis - See Giant cell arteritis
* Arthritis short stature deafness
*   Arthritis, juvenile rheumatoid - See Juvenile idiopathic arthritis
* Arthrochalasis multiplex congenita - See Ehlers-Danlos syndrome arthrochalasia type
* Arthrocutaneouveal granulomatosis - See Blau syndrome
* Arthrodentoosteodysplasia - See Hajdu-Cheney syndrome
* Arthrogryposis - See Arthrogryposis multiplex congenita
* Arthrogryposis - ectodermal dysplasia - other anomalies - See Stoll Alembik Finck syndrome
* Arthrogryposis and ectodermal dysplasia
* Arthrogryposis distal type 1 - See Arthrogryposis multiplex congenita distal type 1
* Arthrogryposis distal type 2A - See Freeman Sheldon syndrome
* Arthrogryposis distal type 2B
* Arthrogryposis distal type 3 - See Gordon syndrome
* Arthrogryposis distal type 7 - See Trismus-pseudocamptodactyly syndrome
* Arthrogryposis due to muscular dystrophy
* Arthrogryposis epileptic seizures migrational brain disorder
* Arthrogryposis IUGR thoracic dystrophy
* Arthrogryposis like disorder
* Arthrogryposis multiplex congenita
* Arthrogryposis multiplex congenita associated with lissencephaly - See Massa Casaer Ceulemans syndrome
* Arthrogryposis multiplex congenita CNS calcification
* Arthrogryposis multiplex congenita distal
* Arthrogryposis multiplex congenita distal type 1
* Arthrogryposis multiplex congenita distal type 2a - See Gordon syndrome
* Arthrogryposis multiplex congenita distal type 2B - See Arthrogryposis distal type 2B
* Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities - See Arthrogryposis distal type 2B
* Arthrogryposis multiplex congenita Escobar variant form - See Escobar syndrome, type B
* Arthrogryposis multiplex congenita neurogenic type
* Arthrogryposis multiplex congenita pulmonary hypoplasia
* Arthrogryposis multiplex congenita whistling face
* Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder - See Arthrogryposis epileptic seizures migrational brain disorder
* Arthrogryposis multiplex congenita with pulmonary hypoplasia - See Fetal akinesia deformation sequence
* Arthrogryposis multiplex congenita, distal type 2
* Arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities - See Distal arthrogryposis Moore Weaver type
* Arthrogryposis multiplex congenita, distal, X-linked
* Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings - See Arthrogryposis multiplex congenita pulmonary hypoplasia
* Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis - See Arthrogryposis renal dysfunction cholestasis syndrome
* Arthrogryposis multiplex with deafness, inguinal hernias, and early death
* Arthrogryposis ophthalmoplegia retinopathy - See Distal arthrogryposis type 5
* Arthrogryposis renal dysfunction cholestasis syndrome
* Arthrogryposis spinal muscular atrophy
* Arthrogryposis with Hyperkeratosis - See Johnston Aarons Schelley syndrome
* Arthrogryposis with oculomotor limitation and electroretinal abnormalities - See Distal arthrogryposis type 5
* Arthrogryposis, distal, type 2E
* Arthrogryposis, distal, type 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
* Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
* Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
* Arthrogryposis-like disorder - See Kuskokwim disease
* Arthrogryposis-like hand anomaly and sensorineural deafness
* Arthrogryposis-like syndrome - See Kuskokwim disease
* Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits - See Spranger Schinzel Myers syndrome
* Arthro-Onychodysplasia - See Nail patella syndrome
* Arthroophthalmopathy, hereditary progressive - See Stickler syndrome type 1
* Arthropathy camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
* Arthropathy, progressive pseudorheumatoid, of childhood - See Progressive pseudorheumatoid arthropathy of childhood
* Arthrosis, flat face, hypotonia, short neck and macrocephaly - See Kniest like dysplasia lethal
* Articular hypermobility syndrome - See Joint laxity, familial
* Artificial joint infection - See Prosthetic joint infection
* ARTS - See Arts syndrome
* Arts syndrome
* ARVC - See Arrhythmogenic right ventricular dysplasia
* ARVD - See Arrhythmogenic right ventricular dysplasia
* Arylamine n-acetyltransferase 1 - See N acetyltransferase deficiency
* Arylsulfatase A deficiency - See Metachromatic leukodystrophy
* Arylsulfatase B deficiency - See Mucopolysaccharidosis type VI
* Arylsulfatase E deficiency - See Chondrodysplasia punctata 1, X-linked recessive
* AS - See Angelman syndrome
* ASA deficiency - See Argininosuccinic aciduria
* ASAT - See Anemia sideroblastic and spinocerebellar ataxia
* Asbestosis
* ASC - See Stress cardiomyopathy
* Ascher syndrome - See Ascher's Syndrome
* Ascher's Syndrome
* Ascitis, splenomegaly, lymphadenopathy - See Tang Hsi Ryu syndrome
*   ASD - See Autism spectrum disorders
* ASD coronary sinus - See Atrial septal defect coronary sinus
* ASD ostium primum type - See Atrial septal defect ostium primum
* ASD ostium secundum type - See Atrial septal defect ostium secundum
* ASDP - See Anal sphincter dysplasia
* Aseptic abscesses syndrome - See Corticosteroid-sensitive aseptic abscesses
* Aseptic necrosis - See Osteochondritis dissecans
* Aseptic systemic abscesses - See Corticosteroid-sensitive aseptic abscesses
* Asherman syndrome - See Asherman's syndrome
* Asherman's syndrome
* Askin’s tumor (PNET of the chest wall) (type) - See Ewing's family of tumors
* ASL deficiency - See Argininosuccinic aciduria
* Aslan multiple pterygium syndrome - See Multiple pterygium syndrome Aslan type
* ASMD - See Anterior segment mesenchymal dysgenesis
* ASOD - See Anterior segment mesenchymal dysgenesis
* ASP deficiency - See Canavan disease
* ASPA deficiency - See Canavan disease
* Aspartoacylase deficiency - See Canavan disease
* Aspartylglucosamidase (AGA) deficiency - See Aspartylglycosaminuria
* Aspartylglucosaminuria - See Aspartylglycosaminuria
* Aspartylglycosaminuria
* ASPED - See Angel shaped phalangoepiphyseal dysplasia
*   Asperger disorder - See Asperger syndrome
*   Asperger syndrome
* Aspergillosis
* Aspergillosis, allergic bronchopulmonary - See Allergic bronchopulmonary aspergillosis
* Aspergillus niger infection
* Aspergillus niger infection, pulmonary - See Aspergillus niger infection
* Asphyxia neonatorum
* Asphyxiating thoracic dystrophy - See Jeune syndrome
* Asplenia syndrome - See Ivemark syndrome
* Asplenia with cardiovascular anomalies - See Ivemark syndrome
* Asprin-like platelet disorder - See Familial platelet disorder with associated myeloid malignancy
* ASPS - See Alveolar soft part sarcoma
* Asrar Facharzt Haque syndrome
* ASS deficiency - See Citrullinemia type I
* ASSA - See Pseudoaminopterin syndrome
* Association of cutaneous vascular malformations and different pigmentary disorders - See Phacomatosis pigmentovascularis
* Association of muscular pseudohypertrophy and hypothyroidism in children - See Kocher-Debre-Semelaigne syndrome
* Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis - See Pyknoachondrogenesis
* Asternia
* Asternia with Cardiac, Diaphragmatic, and Abdominal defects
*   Asthma
* Astley-Kendall dysplasia - See Astley-Kendall syndrome
* Astley-Kendall syndrome
* Astroblastoma
* Asymmetric septal hypertrophy - See Familial hypertrophic cardiomyopathy
* Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia - See Pfeiffer Rockelein syndrome
* Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia - See Coronal synostosis, syndactyly and jejunal atresia
* Asymmetry in the pigmentation of the irides - See Heterochromia iridis
* Asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes - See Infantile digital fibromatosis
* AT - See Ataxia telangiectasia
* AT - V1 - See Ataxia telangiectasia variant V1
* Ataxia telangiectasia
* Ataxia telangiectasia variant V1
* Ataxia with isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
* Ataxia with lactic acidosis 1 - See Pyruvate decarboxylase deficiency
* Ataxia with lactic acidosis 2 - See Pyruvate carboxylase deficiency
* Ataxia with vitamin E deficiency
* Ataxia, chorea, seizures, and dementia - See Dentatorubral-pallidoluysian atrophy
* Ataxia, familial, paroxysmal - See Episodic ataxia with nystagmus
* Ataxia, harding type - See Harding ataxia
* Ataxia, hearing loss, and mental retardation - See Reardon Wilson Cavanagh syndrome
* Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency - See Pyruvate decarboxylase deficiency
* Ataxia-deafness syndrome X-linked - See Spinocerebellar ataxia X-linked type 3
* Ataxia-deafness-retardation syndrome - See Reardon Wilson Cavanagh syndrome
* Ataxia-deafness-retardation syndrome with ketoaciduria - See Richards-Rundle syndrome
* Ataxia-dementia syndrome X-linked - See Spinocerebellar ataxia X-linked type 4
* Ataxia-ocular apraxia 2 - See Spinocerebellar ataxia autosomal recessive 1
* Ataxia-oculomotor apraxia 1 - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ataxia-oculomotor apraxia 2 - See Spinocerebellar ataxia autosomal recessive 1
* Ataxia-oculomotor apraxia syndrome - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ataxia-pancytopenia syndrome - See Myelocerebellar disorder
* Ataxia-Telangiectasia variant V1 - See Nijmegen breakage syndrome
* Ataxia-telangiectasia-like syndrome - See Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ataxic cerebral palsy - See Cerebral palsy ataxic
* ATD - See Jeune syndrome
* Ateliotic dwarfism with hypogonadism - See Pituitary hormone deficiency, combined 2
* Atelosteogenesis type 1
* Atelosteogenesis type 2
* Atelosteogenesis type 3
* Athabaskan brainstem dysgenesis
* Athabaskan Brainstem Dysgenesis Syndrome - See Athabaskan brainstem dysgenesis
* A-Thalassemia - See Alpha-Thalassemia
* Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease - See Feigenbaum Bergeron Richardson syndrome
* Athetoid cerebral palsy - See Cerebral palsy athetoid
* Athetosis
* Atkin Flaitz Patil Smith syndrome - See Mental retardation, X-linked, nonspecific
* Atkin syndrome
* Atkin-Flaitz syndrome - See Atkin syndrome
* Atlantoaxial Fusion - See Atlanto-Axial Fusion
* Atlanto-Axial Fusion
* Atlantoaxial joint fusion - See Atlanto-Axial Fusion
* ATN - See Oculocutaneous albinism type 1
* ATR, nondeletion type - See Alpha-thalassemia x-linked intellectual disability syndrome
* Atransferrinemia
* Atresia of small intestine
* Atrial fibrillation autosomal dominant - See Atrial fibrillation familial
* Atrial fibrillation familial
* Atrial myxoma, familial
* Atrial septal defect coronary sinus
* Atrial septal defect ostium primum
* Atrial septal defect ostium secundum
* Atrial septal defect sinus venosus
* Atrio digital syndrome - See Holt-Oram syndrome
* Atriodigital dysplasia - See Holt-Oram syndrome
* Atrio-ventricular and ventriculo-arterial double discordia - See Double discordia
* Atrioventricular septal defect
* Atrophia bulborum hereditaria - See Norrie disease
* Atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles - See Sclerotylosis
* Atrophic papulosis, malignant - See Degos disease
* Atrophie blanche - See Muscular dystrophy white matter spongiosis
* Atrophoderma of Pierini and Pasini
* Atrophodermia reticulata - See Atrophodermia vermiculata
* Atrophodermia vermiculata
* ATRX syndrome - See Alpha-thalassemia x-linked intellectual disability syndrome
* ATS - See Arterial tortuosity syndrome
* ATS-DL - See Leiomyomatosis, esophageal and vulval, with nephropathy
* Attenuated adenomatous polyposis coli - See Attenuated familial adenomatous polyposis
* Attenuated congenital adrenal hyperplasia - See Late-onset congenital adrenal hyperplasia
* Attenuated familial adenomatous polyposis
* Attenuated familial polyposis coli - See Attenuated familial adenomatous polyposis
* Attenuated FAP - See Attenuated familial adenomatous polyposis
* Attenuated MPS (subtype; formerly known as mild MPS II) - See Mucopolysaccharidosis type II
* Attenuated MPS I (subtype) - See Mucopolysaccharidosis type I
* Atypical childhood HUS - See Hemolytic uremic syndrome, atypical, childhood
* Atypical hemolytic uremic syndrome
* Atypical HUS - See Atypical hemolytic uremic syndrome
* Atypical lipodystrophy
* Atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality - See Alsing syndrome
* Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract - See Methylmalonic aciduria microcephaly cataract
*   Atypical mole syndrome
* Atypical mycobacterial infection, disseminated - See Atypical mycobacteriosis, familial
* Atypical mycobacterial infection, familial disseminated - See Atypical mycobacteriosis, familial
* Atypical mycobacteriosis, familial
* Atypical osteomalacia involving the axial skeleton - See Axial osteomalacia
* Atypical Philadelphia-negative chronic myeloid leukemia - See PDGFRB-associated chronic eosinophilic leukemia
* Atypical progeroid syndrome - See Atypical Werner syndrome
* Atypical PSP - See Progressive supranuclear palsy atypical
* Atypical Rett syndrome
* Atypical Werner syndrome
* AU - See Alopecia universalis
* Auditory dys-synchrony - See Auditory neuropathy
* Auditory neuropathy
* Auditory perceptual disorder
* Auditory perceptual impairment - See Auditory perceptual disorder
* Aughton Sloan Milad syndrome - See Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
* Aughton syndrome - See Dextrocardia with unusual facies and microphthalmia
* Aur syndrome - See Sackey Sakati Aur syndrome
* Aural cephalosyndactyly - See Auralcephalosyndactyly
* Auralcephalosyndactyly
* Auriculocondylar syndrome - See Auriculo-condylar syndrome
* Auriculo-condylar syndrome
* Auriculoosteodysplasia
* Auriculo-osteodysplasia - See Auriculoosteodysplasia
* Auriculotemporal nerve syndrome - See Frey's syndrome
* Auriculoventricular accessory pathway syndrome - See Wolff-Parkinson-White syndrome
* Aurocephalosyndactyly - See Kurczynski Casperson syndrome
* Ausems Wittebol-Post Hennekam syndrome
*   Autism spectrum disorders
* Autism with port-wine stain
* Autism, dementia, ataxia, and loss of purposeful hand use - See Rett syndrome
* Autoerythrocyte sensitization - See Gardner-Diamond syndrome
* Autoerythrocyte sensitization purpura - See Gardner-Diamond syndrome
*   Autoimmune atrophic gastritis
* Autoimmune autonomic ganglionopathy
* Autoimmune chronic hepatitis - See Autoimmune hepatitis
* Autoimmune disease, syndromic multisystem - See ITCH E3 ubiquitin ligase deficiency
* Autoimmune encephalitis
* Autoimmune enteropathy
* Autoimmune gastrointestinal dysmotility
* Autoimmune hemolytic anemia
* Autoimmune hemolytic anemia and autoimmune thrombocytopenia - See Evans syndrome
* Autoimmune hepatitis
* Autoimmune hypophysitis - See Lymphocytic hypophysitis
* Autoimmune Inner Ear disease
* Autoimmune lymphoproliferative syndrome
* Autoimmune lymphoproliferative syndrome type 1, autosomal dominant - See Autoimmune lymphoproliferative syndrome
* Autoimmune lymphoproliferative syndrome type 2B - See Caspase-8 deficiency
* Autoimmune lymphoproliferative syndrome without FAS mutations - See Dianzani autoimmune lymphoproliferative syndrome
* Autoimmune myocarditis
* Autoimmune oophoritis
* Autoimmune pancreatitis
* Autoimmune polyendocrine syndrome type 1 - See Autoimmune polyglandular syndrome type 1
* Autoimmune polyendocrine syndrome type 2 - See Autoimmune polyglandular syndrome type 2
* Autoimmune polyendocrine syndrome type 3 - See Autoimmune polyglandular syndrome type 3
* Autoimmune polyendocrinopathy syndrome type 1 - See Autoimmune polyglandular syndrome type 1
* Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) - See Autoimmune polyglandular syndrome type 1
* Autoimmune polyglandular syndrome type 1
* Autoimmune polyglandular syndrome type 2
* Autoimmune polyglandular syndrome type 3
* Autoimmune progesterone dermatitis
* Autoimmune retinopathy
* Autoimmune thrombocytopenic purpura - See Idiopathic thrombocytopenic purpura
*   Autoimmune thyroiditis - See Hashimoto's syndrome
*   Autoimmune vasculitis - See Vasculitis
* Autoimmunity-immunodeficiency syndrome x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* Autophagic vacuolar myopathy - See Vacuolar myopathy
* Autosomal dominant Alport syndrome
* Autosomal dominant angioma serpiginosum - See Angioma serpiginosum, autosomal dominant
* Autosomal dominant atrial fibrillation - See Atrial fibrillation familial
* Autosomal dominant blepharophimosis with multiple congenital anomalies - See Krieble Bixler syndrome
* Autosomal dominant cerebellar ataxia type 2 - See Spinocerebellar ataxia 7
* Autosomal dominant cerebellar ataxia with mental retardation - See Spinocerebellar ataxia 13
* Autosomal dominant compelling helio ophthalmic outburst syndrome
* Autosomal dominant diffuse Lewy body disease - See Lewy body dementia
* Autosomal dominant distal renal tubular acidosis - See Renal tubular acidosis, distal, autosomal dominant
* Autosomal dominant dyskeratosis congenita - See Dyskeratosis congenita autosomal dominant
* Autosomal dominant form of benign neonatal seizures - See Convulsions benign familial neonatal dominant form
* Autosomal dominant hidrotic ectodermal dysplasia - See Ectodermal dysplasia 2, hidrotic
* Autosomal dominant hyper IgE syndrome
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* Autosomal dominant Larsen syndrome - See Larsen syndrome
* Autosomal dominant lateral temporal lobe epilepsy - See Autosomal dominant partial epilepsy with auditory features
* Autosomal dominant lateral temporal lobe epilepsy - See Autosomal dominant partial epilepsy with auditory features
* Autosomal dominant leukoencephalopathy with neuroaxonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
* Autosomal dominant medullary cystic kidney disease with or without hyperuricemia - See Medullary cystic kidney disease
* Autosomal dominant myotonia congenita - See Myotonia congenita autosomal dominant
* Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Autosomal dominant nonnuclear polymorphic congenital cataract - See Cataract congenital dominant non nuclear
* Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly - See Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
* Autosomal dominant Opitz G/BBB syndrome - See 22q11.2 deletion syndrome
* Autosomal dominant optic atrophy - See Dominant optic atrophy
* Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
* Autosomal dominant osteopetrosis type 1 - See Osteopetrosis autosomal dominant type 1
* Autosomal dominant osteopetrosis type 2 - See Osteopetrosis autosomal dominant type 2
* Autosomal dominant osteosclerosis, Worth type - See Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
* Autosomal dominant Parkinson disease - See Parkinson disease type 3
* Autosomal dominant partial epilepsy with auditory features
*   Autosomal dominant polycystic kidney disease
* Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias - See Preaxial deficiency, postaxial polydactyly and hypospadias
* Autosomal dominant pseudohypoaldosteronism type 1
* Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy - See Retinal vasculopathy with cerebral leukodystrophy
* Autosomal dominant retinoschisis - See Retinoschisis autosomal dominant
* Autosomal dominant severe congenital neutropenia - See Severe congenital neutropenia autosomal dominant
* Autosomal dominant spastic paraparesis - See Spastic paraplegia 9
* Autosomal dominant spastic paraplegia - See Spastic paraplegia 10
* Autosomal dominant spastic paraplegia 4 - See Spastic paraplegia 4
* Autosomal dominant spastic paraplegia type 17 - See Spastic paraplegia 17
* Autosomal dominant spheroid body myopathy - See Spheroid body myopathy
* Autosomal dominant spondyloepiphyseal dysplasia tarda - See Spondyloepiphyseal dysplasia tarda autosomal dominant
* Autosomal dominant thoracolaryngopelvic dysplasia - See Thoracolaryngopelvic dysplasia
* Autosomal dominant torsion dystonia with onset in infancy - See Torsion dystonia with onset in infancy
* Autosomal dominant Vitreoretinochoroidopathy - See Vitreoretinochoroidopathy dominant
* Autosomal recessive adducted thumb-club foot syndrome - See Adducted thumb and clubfoot syndrome
* Autosomal recessive Alport syndrome
* Autosomal recessive ataxia Beauce type - See Spinocerebellar ataxia autosomal recessive 8
* Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations
* Autosomal recessive cerebelloparenchymal disorder type 3 - See Cerebelloparenchymal disorder 3
* Autosomal recessive distal osteolysis syndrome - See Petit-Fryns syndrome
* Autosomal recessive distal renal tubular acidosis - See Renal tubular acidosis, distal, autosomal recessive
* Autosomal recessive distal renal tubular acidosis with deafness - See Renal tubular acidosis with progressive nerve deafness
* Autosomal recessive distal renal tubular acidosis with hearing loss - See Renal tubular acidosis with progressive nerve deafness
* Autosomal recessive dyskeratosis congenita - See Dyskeratosis congenita autosomal recessive
* Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) - See Severe generalized recessive dystrophic epidermolysis bullosa
* Autosomal recessive ectodermal dysplasia - See Bustos Simosa Pinto Cisternas syndrome
* Autosomal recessive familial adenomatous polyposis - See MYH-associated polyposis
* Autosomal recessive form of cleidocranial dysostosis - See Cleidocranial dysplasia recessive form
* Autosomal recessive frontotemporal pachygyria - See Pachygyria, frontotemporal
* Autosomal recessive hyper IgE syndrome
* Autosomal recessive ichthyosis with hypotrichosis - See Ichthyosis with hypotrichosis, autosomal recessive
* Autosomal recessive isolated ectopia lentis - See Ectopia lentis, isolated autosomal recessive
* Autosomal recessive juvenile Parkinson disease
* Autosomal recessive lethal chondrodystrophy with congenital hydrops - See Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Autosomal recessive Melnick-Needles syndrome (formerly) - See Frank Ter Haar syndrome
* Autosomal recessive multiple epiphyseal dysplasia - See Multiple epiphyseal dysplasia 4
* Autosomal recessive nonsyndromic congenital nuclear cataract
* Autosomal recessive nonsyndromic mental retardation-18 - See MED23
* Autosomal recessive Noonan syndrome - See Noonan syndrome 2
* Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
* Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia - See Osteopetrosis autosomal recessive 7
* Autosomal recessive osteopetrosis type 1 - See Osteopetrosis autosomal recessive 1
* Autosomal recessive osteopetrosis type 2 - See Osteopetrosis autosomal recessive 2
* Autosomal recessive osteopetrosis type 3 - See Osteopetrosis autosomal recessive 3
* Autosomal recessive osteopetrosis type 4 - See Osteopetrosis autosomal recessive 4
* Autosomal recessive osteopetrosis type 5 - See Osteopetrosis autosomal recessive 5
* Autosomal recessive osteopetrosis type 6 - See Osteopetrosis autosomal recessive 6
* Autosomal recessive osteopetrosis type 7 - See Osteopetrosis autosomal recessive 7
* Autosomal recessive Parkinson disease 9 - See Parkinson disease type 9
* Autosomal recessive polycystic kidney disease
* Autosomal recessive pseudohypoaldosteronism type 1
* Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia - See Deafness oligodontia syndrome
* Autosomal recessive spastic ataxia - optic atrophy - dysarthria - See Autosomal recessive spastic ataxia 4
* Autosomal recessive spastic ataxia 4
* Autosomal recessive spastic ataxia of Charlevoix-Saguenay - See Spastic ataxia Charlevoix-Saguenay type
* Autosomal recessive spastic paraplegia - See Spastic paraplegia 5A
* Autosomal recessive spastic paraplegia 51 - See Spastic paraplegia 51
* Autosomal recessive spastic paraplegia type 11 - See Spastic paraplegia 11
* Autosomal recessive spastic paraplegia type 20 - See Spastic paraplegia 20
* Autosomal recessive spastic paraplegia type 23 - See Spastic paraplegia 23
* autosomal recessive spinocerebellar ataxia 8 - See Spinocerebellar ataxia autosomal recessive 8
* Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes - See Irons Bhan syndrome
* Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia - See Dermatoosteolysis Kirghizian type
* Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabete - See Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
* Avascular necrosis of the metacarpal head - See Dieterich's disease
* AVED - See Ataxia with vitamin E deficiency
* Avellino corneal dystrophy - See Corneal dystrophy Avellino type
* AVM - See Vacuolar myopathy
* AVMD - See Adult-onset vitelliform macular dystrophy
* Axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss - See Axenfeld-Rieger syndrome type 3
* Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities - See Iris dysplasia hypertelorism deafness
* Axenfeld-Rieger syndrome
* Axenfeld-Rieger syndrome type 1
* Axenfeld-Rieger syndrome type 2
* Axenfeld-Rieger syndrome type 3
* Axial mesodermal dysplasia spectrum
* Axial osteomalacia
* Axial osteosclerosis - See Osteomesopyknosis
* Axial SMD - See Axial spondylometaphyseal dysplasia
* Axial spondylometaphyseal dysplasia
* Axonal neuropathy with palmoplantar keratoderma - See Keratoderma palmoplantar spastic paralysis
* AXPC1 - See Posterior column ataxia with retinitis pigmentosa
* Ayazi syndrome
* Azoospermia obstructive and chronic sinopulmonary infections - See Young syndrome
* Azorean neurologic disease - See Spinocerebellar ataxia 3
* Azul - See Pinta