Browse A-Z

Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly. Read more about which diseases are included on the GARD website.

• 0-9
• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

• A1AT deficiency - See Alpha-1 antitrypsin deficiency
• AA - See Alopecia areata - not a rare disease
• AA Amyloidosis - See Amyloidosis AA
• AAA - See Triple A syndrome
• AAA syndrome - See Triple A syndrome
• AADC deficiency - See Aromatic L-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 I - See Hydrocephalus-cleft palate-joint contractures syndrome
• AAT - See Acquired amegakaryocytic thrombocytopenia
• AAT deficiency - See Alpha-1 antitrypsin deficiency
• AAT4 - See Aortic aneurysm, familial thoracic 4
• AATD - See Alpha-1 antitrypsin deficiency
• AAV - See ANCA-associated vasculitis
• 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
• Aberfeld syndrome - See Schwartz Jampel syndrome
• 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
• 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
• ABri amyloidosis - See Dementia familial British
• 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 - See Adermatoglyphia
• 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 Onychodystrophy-anonychia
• 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 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 - See Psychosocial short stature
• 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 keratitis
• Acanthocheilonema perstans infection - See Acanthocheilonemiasis
• Acanthocheilonemiasis
• Acanthocytosis with neurologic disorder - See Chorea-acanthocytosis
• 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 syndrome
• ACC with intestinal lymphangiectasia - See Aplasia cutis congenita intestinal lymphangiectasia
• Accelerated silicosis - See Silicosis
• Accessory deep peroneal nerve
• Accessory navicular bone - not a rare disease
• 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-intellectual disability syndrome
• 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 cardia - See Achalasia
• Achalasia microcephaly syndrome
• 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 - not a rare disease
• 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 amegakaryocytic thrombocytopenia
• 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 epileptic aphasia - See Landau-Kleffner syndrome
• Acquired epileptiform aphasia - See Landau-Kleffner syndrome
• Acquired factor 8 deficiency - See Acquired hemophilia A
• Acquired factor II deficiency - See Acquired hypoprothrombinemia
• Acquired factor VII deficiency - See Acquired hemophilia A
• Acquired fructose intolerance
• Acquired generalized lipodystrophy
• Acquired haemophilia - See Acquired hemophilia
• Acquired hemophilia
• Acquired hemophilia A
• Acquired hyperostosis syndrome - See SAPHO syndrome
• Acquired hypoprothrombinemia
• Acquired ichthyosis - See Ichthyosis, acquired
• Acquired lipoatrophic diabetes - Another name for Acquired generalized lipodystrophy
• Acquired neuromyotonia - See Isaacs' syndrome
• Acquired pernicious anemia - See Biermer's disease
• Acquired PRCA - See Acquired pure red cell aplasia
• Acquired prothrombin deficiency - See Acquired hypoprothrombinemia
• Acquired pulmonary alveolar proteinosis
• Acquired pure megakaryocytic aplasia - See Acquired amegakaryocytic thrombocytopenia
• Acquired pure red cell aplasia
• Acquired Von Willebrand disease - See Acquired Von Willebrand syndrome
• Acquired Von Willebrand syndrome
• Acral deciduous skin - See Acral peeling skin 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 peeling skin syndrome
• Acral PSS - See Acral peeling skin syndrome
• 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 type 5 - See Pfeiffer syndrome
• Acrocephalosyndactyly, Robinow-Sorauf type - See Robinow Sorauf syndrome
• Acrocephalo-syndactyly, type 3 - See Saethre-Chotzen syndrome
• Acrocephalosyndactyly, type 5 - See Pfeiffer syndrome
• Acrocephalosyndactyly, type II - See Carpenter 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
• 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 Acroosteolysis dominant type
• 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 Porocarcinoma
• 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
• ACTG2-related disorders
• 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
• ACTH-secreting pituitary adenoma
• Actinic cheilitis
• Actinic cheilosis - See Actinic cheilitis
• Actinic lichen planus
• Actinic LP - See Actinic lichen planus
• 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 alcohol sensitivity
• Acute articular rheumatism
• Acute autoimmune peripheral neuropathy - See Guillain-Barre syndrome
• Acute Berylliosis - See Beryllium disease
• Acute biphenotypic leukemia - See Acute leukemia of ambiguous lineage
• 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 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 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 interstitial pneumonia
• Acute interstitial pneumonitis - See Acute interstitial pneumonia
• Acute leukemia of ambiguous lineage
• Acute leukemia of ambiguous lineage - See Acute leukemia of ambiguous lineage
• Acute leukemia of indeterminate lineage - See Acute leukemia of ambiguous lineage
• Acute leukemia of undetermined lineage - See Acute leukemia of ambiguous lineage
• Acute lipodermatosclerosis - See Lipodermatosclerosis
• Acute lung injury - See Acute respiratory distress syndrome
• Acute lymphoblastic leukemia
• Acute lymphoblastic leukemia congenital sporadic aniridia
• Acute lymphocytic leukemia - See Acute lymphoblastic leukemia
• Acute Marchiafava-Bignami disease - See Marchiafava Bignami disease
• Acute megakaryoblastic leukemia
• Acute megakaryocytic leukemia - See Acute megakaryoblastic leukemia
• Acute membranous gingivitis - See Acute necrotizing ulcerative gingivitis
• Acute mesenteric ischemia (subtype) - See Mesenteric artery ischemia
• Acute monoblastic leukemia
• Acute monocytic leukemia - See Acute monoblastic leukemia
• Acute mountain sickness
• Acute multifocal placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
• Acute myeloblastic leukemia M1 - See Acute myeloblastic leukemia without maturation
• Acute myeloblastic leukemia M2 - See Acute myeloblastic leukemia with maturation
• Acute myeloblastic leukemia type 1 - See Acute myeloblastic leukemia without maturation
• Acute myeloblastic leukemia type 2 - See Acute myeloblastic leukemia with maturation
• Acute myeloblastic leukemia type 3 - See Acute promyelocytic leukemia
• Acute myeloblastic leukemia type 4 - See Acute myelomonocytic leukemia
• Acute myeloblastic leukemia type 5 - See Acute monoblastic leukemia
• Acute myeloblastic leukemia type 7 - See Acute megakaryoblastic leukemia
• Acute myeloblastic leukemia with maturation
• Acute myeloblastic leukemia without maturation
• Acute myelodysplasia with myelofibrosis - See Acute panmyelosis with myelofibrosis
• Acute myelofibrosis - See Acute panmyelosis with myelofibrosis
• Acute myelogenous leukemia - See Acute myeloid leukemia
• Acute myeloid leukemia
• Acute myeloid leukemia FAB-M6 - See Acute erythroid leukemia
• Acute myeloid leukemia M6 - See Acute erythroid leukemia
• Acute myeloid leukemia M7 - See Acute megakaryoblastic leukemia
• Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
• Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
• Acute myeloid leukemia with multilineage dysplasia - See AML with myelodysplasia-related features
• Acute myeloid leukemia with recurrent genetic anomaly
• Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants - See Acute promyelocytic leukemia
• Acute myelomonocytic leukemia
• Acute myelomonocytic leukemia - See Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
• 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 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 sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma - See Sudden sensorineural hearing loss
• 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
• AD2 - See
• AD3 - See
• AD4 - See
• ADA deficiency - See Adenosine deaminase deficiency
• ADA deficiency - See Severe combined immunodeficiency
• ADA2 deficiency - See Adenosine Deaminase 2 deficiency
• Adactylia unilateral
• Adair-Dighton syndrome - See Osteogenesis imperfecta type I
• Adamantinoma - See Craniopharyngioma
• Adamantinomatous tumor - See Craniopharyngioma
• Adams Oliver syndrome - See Adams-Oliver syndrome
• Adams-Oliver syndrome
• ADA-SCID - See Adenosine deaminase deficiency
• ADC - See AIDS Dementia Complex
• ADCA - See Autosomal dominant cerebellar ataxia
• ADCA, TYPE II - See Spinocerebellar ataxia 7
• ADCADN - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• ADCA-DN - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• ADCL - See Cutis laxa, autosomal dominant
• AD-CNM - See Autosomal dominant centronuclear myopathy
• ADCY5-related dyskinesia
• Addison disease - See Addison's disease
• Addison-Biermer anemia - See Biermer's disease
• Addisonian achalasia syndrome - See Triple A syndrome
• Addisonian anemia - See Biermer's disease
• Addison's disease
• Adducted thumb clubfoot syndrome - See Ehlers-Danlos syndrome, musculocontractural type
• 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 - See Ameloblastoma
• Adenocarcinoid tumor
• Adenocarcinoma of Small Bowel - See Small Intestinal Adenocarcinoma
• Adenocarcinoma of small instestine - See Small Intestinal Adenocarcinoma
• 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 Ameloblastoma
• 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 2 deficiency
• Adenosine deaminase deficiency
• Adenosine deaminase deficient severe combined immunodeficiency - See Adenosine deaminase deficiency
• Adenosine monophosphate deaminase 1 deficiency
• Adenosine monophosphate deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
• Adenosine triphosphatase deficiency anemia - See Anemia due to Adenosine triphosphatase deficiency
• Adenosquamous carcinoma of the endometrium
• Adenosylcobalamin deficiency - See Vitamin B12-responsive methylmalonic acidemia
• Adenylosuccinase deficiency
• Adenylosuccinate lyase deficiency - See Adenylosuccinase deficiency
• ADERM - See Adermatoglyphia
• Adermatoglyphia
• ADFN - See Albinism deafness syndrome
• ADG - See Adermatoglyphia
• 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
• ADLD - See Autosomal dominant leukodystrophy with autonomic disease
• 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
• ADMERF - See
• Adnexal spiradenoma/cylindroma of a sweat gland
• Adnexal sweat gland spiradenoma/cylindroma - See Adnexal spiradenoma/cylindroma of a sweat gland
• ADNFLE - See Autosomal dominant nocturnal frontal lobe epilepsy
• ADNP syndrome
• Adolescent idiopathic scoliosis - not a rare disease
• Adolescent-onset dystonia of mixed type
• ADP platelet receptor P2Y12 defect - See Bleeding disorder, platelet-type 8
• ADPEAF - See Autosomal dominant partial epilepsy with auditory features
• ADPKD - See Autosomal dominant polycystic kidney disease - not a rare 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 hyperplasia, congenital, due to 21-hydroxylase deficiency - See 21-hydroxylase deficiency
• ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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 X-linked adrenoleukodystrophy
• Adrenoleukodystrophy autosomal neonatal form - See Neonatal adrenoleukodystrophy
• Adrenoleukodystrophy childhood cerebral form - See Childhood-onset cerebral X-linked adrenoleukodystrophy
• 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 dermatomyositis - See Dermatomyositis
• 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 cancer
• Adult stomach carcinoma - See Stomach cancer
• ADULT syndrome
• Adult T-cell leukaemia - See Adult T-cell leukemia/lymphoma
• Adult T-cell leukaemia/lymphoma (HTLV-1 positive) - See Adult T-cell leukemia/lymphoma
• Adult T-cell leukemia/lymphoma
• Adult T-cell lymphoma - See Adult T-cell leukemia/lymphoma
• Adult-onset citrullinemia type 2 - See Adult-onset citrullinemia type II
• Adult-onset citrullinemia type II
• Adult-onset dystonia-parkinsonism
• 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 nemaline myopathy
• Adult-onset PLS - See Primary lateral sclerosis
• Adult-onset primary lateral sclerosis - See Primary lateral sclerosis
• 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
• Adverse events of 5-alpha-reductase inhibitors
• 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 Syndromic microphthalmia, type 3
• Aerobic actinomyces infection
• AERRPS - See Febrile infection-related epilepsy syndrome
• AEXS - See Aromatase excess 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, 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 - See L-arginine:glycine amidinotransferase deficiency
• AGel amyloidosis - See Familial amyloidosis, Finnish type
• 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 - See Corpus callosum agenesis
• Agenesis of the corpus callosum with mental retardation and osseous lesions - See Kozlowski Ouvrier syndrome
• Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome - See Graham-Cox 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 - not a rare disease
• Age-related maculopathy - See Macular degeneration - not a rare disease
• 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
• AGPS deficiency - See Rhizomelic chondrodysplasia punctata type 3
• AGR triad - See WAGR syndrome
• Agranulocytosis infantile - See Severe congenital neutropenia autosomal recessive 3
• Agranulocytosis, acquired - See Acquired agranulocytosis
• 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
• AHMIO1 - See Hypochromic microcytic anemia with iron overload
• 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 AIDS related
• AIDS-related lymphoma - See Primary effusion lymphoma
• AIED - See Aland island eye disease
• AIED - See Autoimmune Inner Ear 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
• AIMAH - See ACTH-independent macronodular adrenal hyperplasia
• Ainhum
• AION - See Anterior ischemic optic neuropathy
• AIP - See Acute intermittent porphyria
• Airway-centered idiopathic interstitial pneumonia - See Airway-centered interstitial fibrosis
• Airway-centered interstitial fibrosis
• AIS - See Androgen insensitivity syndrome
• AITL - See Angioimmunoblastic T-cell lymphoma
• Akaba Hayasaka syndrome
• AKE - See Acrokeratoelastoidosis of Costa
• Akesson syndrome
• Aksu von Stockhausen syndrome
• AKT2-related familial partial lipodystrophy - See
• AKT2-related FPLD - See
• 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 intolerance - See Acute alcohol sensitivity
• Alcoholic cerebellar degeneration - See Subacute cerebellar degeneration
• Alcohol-Related Birth Defects (ARBD) - type - See Fetal Alcohol Spectrum Disorders
• Alcohol-Related Neurodevelopmental Disorder (ARND) - type - See Fetal Alcohol Spectrum Disorders
• ALD - See X-linked adrenoleukodystrophy
• 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
• Alezzandrini syndrome
• ALG11-CDG - See ALG11-CDG (CDG-Ip)
• ALG11-CDG (CDG-Ip)
• ALG12-CDG - See ALG12-CDG (CDG-Ig)
• ALG12-CDG (CDG-Ig) - See ALG12-CDG (CDG-Ig)
• ALG12-CDG (CDG-Ig)
• ALG12-congenital disorder of glycosylation - See ALG12-CDG (CDG-Ig)
• ALG13-CDG
• ALG1-CDG - See ALG1-CDG (CDG-Ik)
• ALG1-CDG (CDG-Ik)
• ALG1-CDG (CDG-Ik) - See ALG1-CDG (CDG-Ik)
• ALG2-CDG - See ALG2-CDG (CDG-Ii)
• ALG2-CDG (CDG-Ii) - See ALG2-CDG (CDG-Ii)
• ALG2-CDG (CDG-Ii)
• ALG3-CDG - See ALG3-CDG (CDG-Id)
• ALG3-CDG (CDG-Id)
• ALG3-CDG (CDG-Id) - See ALG3-CDG (CDG-Id)
• ALG6-CDG - See ALG6-CDG (CDG-Ic)
• ALG6-CDG (CDG-Ic)
• ALG6-CDG (CDG-Ic) - See ALG6-CDG (CDG-Ic)
• ALG8-CDG - See ALG8-CDG (CDG-Ih)
• ALG8-CDG (CDG-Ih) - See ALG8-CDG (CDG-Ih)
• ALG8-CDG (CDG-Ih)
• ALG9-CDG - See ALG9-CDG (CDG-IL)
• ALG9-CDG (CDG-IL) - See ALG9-CDG (CDG-IL)
• ALG9-CDG (CDG-IL)
• Al-Gazali-Donnai-Mueller syndrome
• ALI - See Acute respiratory distress syndrome
• Alibert-Bazin syndrome - See Mycosis fungoides
• ALK+ histiocytosis
• Alkaptonuria
• Alkaptonuric ochronosis - See Alkaptonuria
• ALKURAYA SYNDROME - See MGAT2-CDG (CDG-IIa)
• 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 leukemia of ambiguous lineage
• Allain-Babin-Demarquez syndrome
• Allan-Herndon syndrome - See Allan-Herndon-Dudley syndrome
• Allan-Herndon-Dudley syndrome
• Allergic angiitis
• Allergic angiitis and granulomatosis - See Eosinophilic granulomatosis with polyangiitis
• Allergic bronchopulmonary aspergillosis
• Allergic bronchopulmonary mycosis - See Allergic bronchopulmonary aspergillosis
• Allergic encephalomyelitis
• Allergic granulomatosis - See Eosinophilic granulomatosis with polyangiitis
• Allergic granulomatous and angiitis - See Eosinophilic granulomatosis with polyangiitis
• Allergic interstitial pneumonitis - See Hypersensitivity pneumonitis
• Allergic pneumonitis - See Hypersensitivity pneumonitis
• 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 - not a rare disease
• Alopecia areata universalis - See Alopecia universalis
• Alopecia Celsi - See Alopecia areata - not a rare disease
• Alopecia Cicatrisata - See Alopecia areata - not a rare disease
• Alopecia Circumscripta - See Alopecia areata - not a rare disease
• Alopecia congenita with hyperkeratosis of the palms and soles - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Alopecia congenital - See Congenital alopecia X-linked
• Alopecia deafness hypogonadism - See Crandall syndrome
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia immunodeficiency
• Alopecia intellectual disability syndrome 2
• Alopecia intellectual disability syndrome 2 - See Alopecia intellectual disability syndrome 2
• Alopecia Intellectual disbility syndrome 1 - See Alopecia-intellectual disability syndrome
• Alopecia macular degeneration growth retardation
• Alopecia totalis - not a rare disease
• 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 intellectual disability syndrome 2
• Alopecia with severe intellectual deficit - See Alopecia-intellectual disability syndrome
• 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-intellectual disability syndrome
• Alopecia-contractures-dwarfism-intellectual disability syndrome
• Alopecia-intellectual disability syndrome
• 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 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 antitrypsin deficiency
• 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
• ALPS due to CTLA4 haploinsuffiency - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• ALPS type 5 - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• ALPS type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• 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 - See Hypersensitivity pneumonitis
• Alves syndrome - See Arthrogryposis and ectodermal dysplasia
• Alves-dos Santos-Castelo syndrome - See Arthrogryposis and ectodermal dysplasia
• ALX1-related frontonasal dysplasia - See
• ALX3-related frontonasal dysplasia - See
• ALX4-related FNDAG - See
• Alzheimer disease - not a rare disease
• Alzheimer disease 1 - See
• Alzheimer disease 3 - See
• Alzheimer disease 4 - See
• Alzheimer disease associated with APOE E4 - See
• Alzheimer disease early onset type 3 - See
• Alzheimer disease familial type 4 - See
• Alzheimer disease type 1 - See
• Alzheimer disease type 2 - See
• Alzheimer disease type 3 - See
• Alzheimer disease type 4 - See
• 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
• Amaurosis congenita of Leber, type 10 - See
• Amaurosis congenita of Leber, type 11 - See
• Amaurosis congenita of Leber, type 12 - See
• Amaurosis congenita of Leber, type 2 - See
• Amaurosis congenita of Leber, type 3 - See
• Amaurosis congenita of Leber, type 4 - See
• Amaurosis congenita of Leber, type 5 - See
• Amaurosis congenita of Leber, type 9 - See
• 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 Distal arthrogryposis type 1
• AMCN - See Arthrogryposis multiplex congenita neurogenic type
• AMD - See Adrenomyodystrophy
• AMD - See Macular degeneration - not a rare disease
• 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 - See Ameloblastic carcinoma
• Ameloblastic carcinoma
• Ameloblastoma
• 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 - not a rare disease
• AMI - See Mesenteric artery ischemia
• Amino acid disorders - See Aminoacidopathies - not a rare disease
• Amino acid metabolism, inborn errors - See Inborn amino acid metabolism disorder
• Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
• Aminoacidopathies - not a rare disease
• 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 - See GM3 synthase deficiency
• Amish lethal microcephaly
• Amish Nemaline Myopathy
• Amish Nemaline Myopathy - See Amish Nemaline Myopathy
• AMKL - See Acute megakaryoblastic leukemia
• AML M1 - See Acute myeloblastic leukemia without maturation
• AML M2 - See Acute myeloblastic leukemia with maturation
• AML M3 - See Acute promyelocytic leukemia
• AML M4 - See Acute myelomonocytic leukemia
• AML M5 - See Acute monoblastic leukemia
• AML M6 - See Acute erythroid leukemia
• AML M7 - See Acute megakaryoblastic leukemia
• AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) - See Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
• AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) - See Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
• AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2) - See Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
• AML with lymphoid markers - See Acute leukemia of ambiguous lineage
• AML with multilineage dysplasia - See AML with myelodysplasia-related features
• AML with myelodysplasia-related features
• AML with recurrent genetic anomaly - See Acute myeloid leukemia with recurrent genetic anomaly
• AML with t(15;17)(q22;q12);(PML/RARalpha) and variants - See Acute promyelocytic leukemia
• AML-M4 - See Acute myelomonocytic leukemia
• AML-M5 - See Acute monoblastic 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
• Amoebiasis due to free-living amoebae
• Amoebic dysentery due to Entamoeba histolytica - See Amebiasis
• AMP deaminase 1 deficiency - See Adenosine monophosphate deaminase 1 deficiency
• AMP deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
• AMPD1 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-intellectual disability syndrome
• AMR syndrome 2 - See Alopecia intellectual disability 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 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 Primary cutaneous amyloidosis
• Amyloidosis AA
• Amyloidosis AL - See AL amyloidosis
• Amyloidosis Beta2M
• Amyloidosis bronchopulmonary
• 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 Primary cutaneous amyloidosis
• Amyloidosis familial renal - See Amyloidosis familial visceral
• Amyloidosis familial visceral
• Amyloidosis hereditary - See Hereditary amyloidosis
• Amyloidosis IX - See Primary cutaneous amyloidosis
• Amyloidosis nodular localized cutaneous
• Amyloidosis of gingiva and conjunctiva with intellectual disability
• Amyloidosis of gingiva and conjunctiva with mental retardation - See Amyloidosis of gingiva and conjunctiva with intellectual disability
• 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
• Amyloidosis, Ostertag type - See Amyloidosis familial visceral
• 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 Imperforate anus
• Anal cancer
• Anal sphincter dysplasia
• Anal stenosis - See Imperforate anus
• ANALBA - See Congenital analbuminemia
• Analbuminemia - See Congenital analbuminemia
• 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
• ANCA-associated vasculitis
• 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-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 - not a rare disease
• Androgenic alopecia - See Androgenetic alopecia - not a rare disease
• 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 - not a rare disease
• 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
• Aneurysm-osteoarthritis syndrome - See Loeys-Dietz syndrome type 3
• 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 - not a rare disease
• Angioedema, acquired - See Acquired angioedema
• Angioedema, hereditary - See Hereditary angioedema
• Angioedema, vibratory - See Vibratory urticaria
• Angiofollicular ganglionic hyperplasia - See Castleman disease
• Angiofollicular lymph hyperplasia - See Castleman 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, 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
• Angiospastic macules - See Bier spots
• 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 - ptosis - intellectual disability - familial obesity
• Aniridia absent patella
• Aniridia associated with mental retardation and other eye abnormalities - See Walker Dyson syndrome
• Aniridia partial with unilateral renal agenesis and psychomotor retardation - See Aniridia renal agenesis psychomotor retardation
• 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
• Aniridia-ptosis-intellectual disability-familial obesity syndrome - See Aniridia - ptosis - intellectual disability - familial obesity
• 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 - not a rare disease
• Ankylosing spondyloarthritis - See Ankylosing spondylitis - not a rare disease
• Ankylosing vertebral hyperostosis with tylosis - See Diffuse idiopathic skeletal hyperostosis - not a rare disease
• Ankylosis of teeth
• Ankylosis of the temporomandibular joint (TMJ) - See Temporomandibular ankylosis
• ANM - See Amish Nemaline Myopathy
• Annular atrophic lichen planus
• Annular atrophic LP - See Annular atrophic lichen planus
• Annular constricting bands
• Annular lichen planus
• Annular LP - See Annular lichen planus
• 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 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 Syndromic microphthalmia, type 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 Syndromic microphthalmia, type 3
• Anophthalmia megalocornea cardiopathy skeletal anomalies
• Anophthalmia microcephaly hypogonadism
• Anophthalmia microphthalmia esophageal atresia - See Syndromic microphthalmia, type 3
• 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 Malformations - See Imperforate anus
• 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 Isolated anterior cervical hypertrichosis
• 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
• 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
• Anti-Jo1 syndrome - See Antisynthetase syndrome
• Antineutrophil cytoplasmic antibody-associated vasculitis - See ANCA-associated vasculitis
• Anti-neutrophil cytoplasmic antibody-associated vasculitis - See ANCA-associated vasculitis
• Antiphospholipid antibody syndrome - See Antiphospholipid syndrome
• Antiphospholipid syndrome
• Antiplasmin deficiency, congenital - See Anti-plasmin deficiency, congenital
• Anti-plasmin deficiency, congenital
• Antiquitin deficiency - See Pyridoxine-dependent epilepsy
• Antisynthetase syndrome
• Antithrombin deficiency type 2 - See Hereditary antithrombin deficiency type 2
• Antithrombin III Deficiency - See Hereditary antithrombin deficiency
• Antithrombmin III deficiency Type II - See Hereditary antithrombin deficiency type 2
• 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
• AOA1 - See Ataxia-oculomotor apraxia type 1
• AOCH - See Acromegaloid features, overgrowth, cleft palate and hernia
• AOI - See Atelosteogenesis type 1
• AOI - See Infantile apnea
• 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 4
• Aortic aneurysm/aortic dissection and patent ductus arteriosus - See Aortic aneurysm, familial thoracic 4
• Aortic arch anomaly - peculiar facies - intellectual disability
• Aortic arch anomaly-peculiar facies-intellectual disability syndrome - See Aortic arch anomaly - peculiar facies - intellectual disability
• 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 Ameloblastoma
• AP4 deficiency syndrome - See Spastic paraplegia 51
• APBD - See Polyglucosan body disease, adult
• APC resistance, Leiden type - See Factor V Leiden thrombophilia - not a rare disease
• 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
• 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-intellectual disability syndrome
• APMR2 - See Alopecia intellectual disability syndrome 2
• Apnea of infancy - 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 Atresia of small intestine
• Apple peel syndrome - See Jejunal atresia
• Apple-peel intestinal atresia - See Jejunal atresia
• Apraxia
• Apraxia, oculomotor, with congenital contractures and muscle atrophy - See Intellectual disability-developmental delay-contractures 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
• APVR - See Pulmonary venous return anomaly
• Aquagenic keratoderma - See Aquagenic syringeal acrokeratoderm
• Aquagenic Palmoplantar Keratoderma - See Aquagenic syringeal acrokeratoderm
• Aquagenic pruritus
• Aquagenic syringeal acrokeratoderm
• Aquagenic urticaria
• Aquagenic wrinkling of the hands - See Aquagenic syringeal acrokeratoderm
• Aquagenic wrinkling of the palms - See Aquagenic syringeal acrokeratoderm
• Aqueductal stenosis, X-linked - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• AR dRTA with hearing loss - See Renal tubular acidosis with deafness
• AR dRTA wth deafness - See Renal tubular acidosis with deafness
• AR hyperimmunoglobulin E syndrome - See Autosomal recessive hyper IgE syndrome
• Arachindonic acid, absence of
• Arachnodactyly - intellectual disability - dysmorphism
• Arachnodactyly, abnormal ossification and mental retardation - See Kosztolanyi 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
• Arachnodactyly-intellectual disability-dysmorphism syndrome - See Arachnodactyly - intellectual disability - dysmorphism
• 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
• Aran Duchenne spinal muscular atrophy - See Adult progressive spinal muscular atrophy Aran Duchenne type
• ARAN-NM - See Autosomal recessive axonal neuropathy with neuromyotonia
• 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
• ARCA2 - See Autosomal recessive spinocerebellar ataxia 9
• ARCL2A - See Cutis laxa, autosomal recessive type 2A
• AR-CMT1 - See Charcot-Marie-Tooth disease type 4
• AR-CMT2 - See Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
• ARCMT2K - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• ARCMT2-NM - See Autosomal recessive axonal neuropathy with neuromyotonia
• AR-CNM - See Autosomal recessive centronuclear myopathy
• 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 L-arginine:glycine amidinotransferase 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 - not a rare disease
• ARMS - See Rhabdomyosarcoma alveolar
• Arndt-Gottron disease - See Scleromyxedema
• Arnold Chiari malformation - See Chiari malformation - not a rare disease
• Arnold Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
• 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 - not a rare disease
• AROMATASE ACTIVITY, INCREASED - See Aromatase excess syndrome
• Aromatase deficiency
• Aromatase excess syndrome
• Aromatic amino acid decarboxylase deficiency - See Aromatic L-amino acid decarboxylase deficiency
• Aromatic L-amino acid decarboxylase deficiency
• ARPA familial - See Anomalous origin of right pulmonary artery familial
• arPEO - See Progressive external ophthalmoplegia, autosomal recessive 1
• 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 and distal joint calcification - See ACDC
• Arterial calcification due to CD73 deficiency - See ACDC
• Arterial calcification due to deficiency of CD73 - 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
• Arthogryposis with oculomotor limitation and electroretinal abnormalities - See Distal arthrogryposis type 5
• Arthritis short stature deafness
• Arthritis, juvenile rheumatoid - See Juvenile idiopathic arthritis - not a rare disease
• Arthrochalasis multiplex congenita - See Ehlers-Danlos syndrome, arthrochalasia type
• Arthrocutaneouveal granulomatosis - See Blau syndrome
• Arthrodentoosteodysplasia - See Acroosteolysis dominant type
• Arthrogryposis - See Arthrogryposis multiplex congenita
• Arthrogryposis - ectodermal dysplasia - other anomalies - See Stoll Alembik Finck syndrome
• Arthrogryposis - renal dysfunction - cholestasis - See Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis and ectodermal dysplasia
• Arthrogryposis distal type 2A - See Freeman Sheldon syndrome
• 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 - See Distal arthrogryposis
• Arthrogryposis multiplex congenita distal type 1 - See Distal arthrogryposis type 1
• Arthrogryposis multiplex congenita distal type 2B - See Sheldon-Hall syndrome
• Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities - See Sheldon-Hall syndrome
• 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, 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 congenita-whistling face syndrome - See Arthrogryposis multiplex congenita whistling face
• 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 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
• 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
• Arthrogryposis-renal dysfunction-cholestasis syndrome - See Arthrogryposis renal dysfunction cholestasis syndrome
• 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 dysplasia
• Arthrosis, flat face, hypotonia, short neck and macrocephaly - See Kniest like dysplasia lethal
• Articular hypermobility syndrome - See Familial joint instability syndrome
• Articulatory apraxia - See Childhood apraxia of speech
• 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
• AS syndrome - See Antisynthetase syndrome
• ASA deficiency - See Argininosuccinic aciduria
• ASAT - See Anemia sideroblastic and spinocerebellar ataxia
• Asbestosis
• ASC - See Stress cardiomyopathy
• Ascher Syndrome
• Ascher's syndrome - See Ascher Syndrome
• Ascitis, splenomegaly, lymphadenopathy - See Tang Hsi Ryu syndrome
• ASD - See Autism spectrum disorders - not a rare disease
• ASD coronary sinus - See Atrial septal defect coronary sinus
• ASD ostium primum type - See Atrial septal defect ostium primum
• ASD ostium secundum type - See Ostium secundum atrial septal defect
• ASDP - See Anal sphincter dysplasia
• Aseptic abscesses syndrome - See Corticosteroid-sensitive aseptic abscesses
• Aseptic necrosis of the tarsal bone - See Kohler disease
• 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 - not a rare disease
• Asperger syndrome - not a rare disease
• 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 - not a rare disease
• 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 - not a rare disease
• 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
• Ataxia - hypogonadism - choroidal dystrophy
• Ataxia telangiectasia
• 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-hypogonadism-choroidal dystrophy syndrome - See Ataxia - hypogonadism - choroidal dystrophy
• Ataxia-oculomotor apraxia 1 - See Ataxia-oculomotor apraxia type 1
• Ataxia-oculomotor apraxia type 1
• Ataxia-oculomotor apraxia type 2 - See Spinocerebellar ataxia with axonal neuropathy type 2
• Ataxia-pancytopenia syndrome - See Myelocerebellar disorder
• Ataxia-Telangiectasia variant V1 - See Nijmegen breakage syndrome
• Ataxia-telangiectasia-like syndrome - See Ataxia-oculomotor apraxia type 1
• 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
• ATFB - See Familial atrial fibrillation
• 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
• ATLL - See Adult T-cell leukemia/lymphoma
• ATN - See Oculocutaneous albinism type 1
• ATR, nondeletion type - See Alpha-thalassemia x-linked intellectual disability syndrome
• Atransferrinemia
• Atresia of small intestine
• Atresia of small intestine - See Jejunal atresia
• Atrial fibrillation autosomal dominant - See Familial atrial fibrillation
• Atrial fibrillation, familial - See Familial atrial fibrillation
• Atrial myxoma, familial
• Atrial septal defect coronary sinus
• Atrial septal defect ostium primum
• 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 Palmoplantar keratoderma-sclerodactyly syndrome
• Atrophic lichen planus
• Atrophic LP - See Atrophic lichen planus
• Atrophic papulosis, malignant - See Degos disease
• Atrophie blanche - See Muscular dystrophy white matter spongiosis
• Atrophoderma of Pierini and Pasini
• Atrophoderma vermiculata
• Atrophoderma vermiculatum - See Atrophoderma vermiculata
• Atrophodermia reticulata - See Atrophoderma vermiculata
• Atrophodermia reticulata symmetrica faciei - See Atrophoderma vermiculata
• Atrophodermia vermiculata - See Atrophoderma 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 Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
• 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, includes Hurler-Scheie and Scheie syndrome) - See Mucopolysaccharidosis type I
• Atypical childhood HUS - See Hemolytic uremic syndrome, atypical, childhood
• Atypical Gaucher disease due to saposin C deficiency - See
• Atypical hemolytic uremic syndrome
• Atypical HUS - See Atypical hemolytic uremic syndrome
• 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 - not a rare disease
• Atypical mycobacterial infection, disseminated - See Atypical mycobacteriosis, familial
• Atypical mycobacterial infection, familial disseminated - See Atypical mycobacteriosis, familial
• Atypical mycobacteriosis, familial
• Atypical neuroaxonal dystrophy - See Karak syndrome
• 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 teratoid rhabdoid tumor - See Rhabdoid tumor
• 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 - not a rare disease
• 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
• Autoerythrocyte sensitization syndrome - See Gardner-Diamond syndrome
• Autoimmune atrophic gastritis - not a rare disease
• Autoimmune autonomic ganglionopathy
• Autoimmune Autonomic Neuropathy - See 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 due to CTLA4 haploinsuffiency
• Autoimmune lymphoproliferative syndrome type 1, autosomal dominant - See Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome type 2B - See Caspase-8 deficiency
• Autoimmune lymphoproliferative syndrome type 5 - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune lymphoproliferative syndrome type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune lymphoproliferative syndrome without FAS mutations - See Dianzani autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome, type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• 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 - not a rare disease
• Autoimmune vasculitis - See Vasculitis - not a rare disease
• Autoimmunity-immunodeficiency syndrome x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Autosomal agammaglobulinemia - See Agammaglobulinemia, non-Bruton type
• Autosomal dominant adult-onset demyelinating leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
• Autosomal dominant Alport syndrome
• Autosomal dominant angioma serpiginosum - See Angioma serpiginosum, autosomal dominant
• Autosomal dominant atrial fibrillation - See Familial atrial fibrillation
• Autosomal dominant axonal Charcot-Marie-Tooth disease - See Charcot-Marie-Tooth disease type 2
• Autosomal dominant blepharophimosis with multiple congenital anomalies - See Krieble Bixler syndrome
• Autosomal dominant brachyolmia - See Brachyolmia type 3
• Autosomal dominant café au lait spots
• Autosomal dominant centronuclear myopathy
• Autosomal dominant cerebellar ataxia
• Autosomal dominant cerebellar ataxia type 2 - See Spinocerebellar ataxia 7
• Autosomal dominant cerebellar ataxia with mental retardation - See Spinocerebellar ataxia 13
• Autosomal dominant cerebellar ataxia, deafness and narcolepsy - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• Autosomal dominant Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease type 2
• Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
• Autosomal dominant Charcot-Marie-Tooth disease type 2L - See Charcot-Marie-Tooth disease type 2L
• Autosomal dominant Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease type 2N
• Autosomal dominant Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease type 2O
• Autosomal dominant Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease type 2Q
• Autosomal dominant compelling helio ophthalmic outburst syndrome
• Autosomal dominant cutis laxa - See Cutis laxa, autosomal dominant
• Autosomal dominant deafness-onychodystrophy syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• Autosomal dominant deafness-onychodystrophy syndrome
• Autosomal dominant demyelinating Charcot-Marie-Tooth disease - See Charcot-Marie-Tooth disease type 1
• Autosomal dominant diffuse Lewy body disease - See Lewy body dementia - not a rare disease
• Autosomal dominant dyskeratosis congenita - See Dyskeratosis congenita autosomal dominant
• Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types - See Dominant dystrophic epidermolysis bullosa
• Autosomal dominant form of benign neonatal seizures - See Convulsions benign familial neonatal dominant form
• Autosomal dominant hereditary hemochromatosis - See Hemochromatosis type 4
• Autosomal dominant hidrotic ectodermal dysplasia - See Clouston syndrome
• Autosomal dominant hyper IgE syndrome
• Autosomal dominant intellectual disability-17 - See PACS1-related syndrome
• Autosomal dominant intermediate Charcot-Marie-Tooth
• Autosomal dominant intermediate Charcot-Marie-Tooth disease - See Autosomal dominant intermediate Charcot-Marie-Tooth
• Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
• Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
• Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
• Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
• Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
• Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
• Autosomal dominant Larsen syndrome - See Larsen syndrome
• Autosomal dominant late-onset retinal degeneration - See Late-onset retinal degeneration
• Autosomal dominant lateral temporal lobe epilepsy - See Autosomal dominant partial epilepsy with auditory features
• Autosomal dominant leukodystrophy with autonomic disease
• Autosomal dominant leukoencephalopathy with neuroaxonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
• Autosomal dominant limb-girdle muscular dystrophy type 1C - See
• Autosomal dominant limb-girdle muscular dystrophy type 1D - See
• Autosomal dominant limb-girdle muscular dystrophy type 1E - See
• Autosomal dominant limb-girdle muscular dystrophy type 1F - See
• Autosomal dominant limb-girdle muscular dystrophy type 1G - See
• Autosomal dominant limb-girdle muscular dystrophy type 1H - See
• Autosomal dominant medullary cystic kidney disease with or without hyperuricemia - See Medullary cystic kidney disease
• Autosomal dominant methemoglobinemia - See Methemoglobinemia, beta-globin type
• Autosomal dominant multiple pterygium syndrome - See
• Autosomal dominant myotonia congenita - See Myotonia congenita autosomal dominant
• Autosomal dominant nail dysplasia - See Twenty-nail dystrophy
• Autosomal dominant neuronal ceroid lipofuscinosis 4B
• Autosomal dominant nocturnal frontal lobe epilepsy
• Autosomal dominant nonnuclear polymorphic congenital cataract - See Cataract congenital dominant non nuclear
• Autosomal dominant non-syndromic intellectual disability
• 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 and cataract
• Autosomal dominant optic atrophy plus syndrome
• Autosomal dominant optic atrophy type 3 - See Autosomal dominant optic atrophy and cataract
• 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 palmoplantar hyperkeratosis and congenital alopecia - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Autosomal dominant Parkinson disease - See Parkinson disease type 3
• Autosomal dominant partial epilepsy with auditory features
• Autosomal dominant polycystic kidney disease - not a rare disease
• Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias - See Preaxial deficiency, postaxial polydactyly and hypospadias
• Autosomal dominant primary hypomagnesemia with hypocalciuria - See Renal hypomagnesemia 2
• 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 SLC4A1-associated distal renal tubular acidosis - See Renal tubular acidosis, distal, 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
• Autosomal dominant thoracolaryngopelvic dysplasia - See Thoracolaryngopelvic dysplasia
• Autosomal dominant torsion dystonia-4
• Autosomal dominant Vitreoretinochoroidopathy - See Vitreoretinochoroidopathy dominant
• Autosomal recessive adducted thumb-club foot syndrome - See Ehlers-Danlos syndrome, musculocontractural type
• Autosomal recessive Alport syndrome
• Autosomal recessive ataxia Beauce type - See Spinocerebellar ataxia autosomal recessive 8
• Autosomal recessive ataxia due to coenzyme Q10 deficiency - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive ataxia due to ubiquinone deficiency - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
• Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Autosomal recessive axonal CMT4C2 - See Charcot-Marie-Tooth disease type 2H
• Autosomal recessive axonal CMT4C4 - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Autosomal recessive axonal hereditary motor and sensory neuropathy - See Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
• Autosomal recessive axonal neuropathy with neuromyotonia
• Autosomal recessive centronuclear myopathy
• Autosomal recessive cerebellar ataxia - blindness - deafness - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive cerebellar ataxia type 2 - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive cerebellar ataxia-blindness-deafness syndrome - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive cerebelloparenchymal disorder type 3 - See Cerebelloparenchymal disorder 3
• Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia - See Autosomal recessive axonal neuropathy with neuromyotonia
• Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Autosomal recessive demyelinating Charcot-Marie-Tooth - See Charcot-Marie-Tooth disease type 4
• 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 deafness
• Autosomal recessive distal renal tubular acidosis with hearing loss - See Renal tubular acidosis with deafness
• Autosomal recessive dyskeratosis congenita - See Dyskeratosis congenita autosomal recessive
• Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - See Severe generalized recessive dystrophic epidermolysis bullosa
• Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis - See Recessive dystrophic epidermolysis bullosa-generalized other
• Autosomal recessive dystrophic epidermolysis bullosa, generalized other - See Recessive dystrophic epidermolysis bullosa-generalized other
• Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - See Severe generalized recessive dystrophic epidermolysis bullosa
• Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) - See Severe generalized recessive dystrophic epidermolysis bullosa
• Autosomal recessive early-onset IBD - See Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive early-onset inflammatory bowel disease - See Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive early-onset inflammatory bowel disease
• 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 hereditary thrombophilia due to protein C deficiency - See Autosomal recessive protein C deficiency
• Autosomal recessive hyper IgE syndrome
• Autosomal recessive ichthyosis with hypotrichosis - See Ichthyosis with hypotrichosis, autosomal recessive
• Autosomal recessive intermediate Charcot-Marie-Tooth disease
• Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
• Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
• Autosomal recessive isolated ectopia lentis - See Ectopia lentis, isolated autosomal recessive
• Autosomal recessive juvenile Parkinson disease
• Autosomal recessive lethal chondrodystrophy with congenital hydrops - See Greenberg dysplasia
• Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency - See
• Autosomal recessive limb-girdle muscular dystrophy type 2C - See Limb-girdle muscular dystrophy, type 2C
• Autosomal recessive limb-girdle muscular dystrophy type 2I - See Limb-girdle muscular dystrophy type 2I
• Autosomal recessive limb-girdle muscular dystrophy type 2J - See
• Autosomal recessive limb-girdle muscular dystrophy type 2K - See
• Autosomal recessive limb-girdle muscular dystrophy type 2L - See
• Autosomal recessive limb-girdle muscular dystrophy type 2M - See
• Autosomal recessive limb-girdle muscular dystrophy type 2N - See
• Autosomal recessive limb-girdle muscular dystrophy type 2O - See
• Autosomal recessive limb-girdle muscular dystrophy type 2P - See
• Autosomal recessive limb-girdle muscular dystrophy type 2Q - See
• Autosomal recessive limb-girdle muscular dystrophy type 2S - See
• Autosomal recessive limb-girdle muscular dystrophy type 2T - See
• Autosomal recessive Melnick-Needles syndrome (formerly) - See Frank Ter Haar syndrome
• Autosomal recessive methemoglobinemia - See NADH cytochrome B5 reductase deficiency
• Autosomal recessive multiple colorectal adenomas - See MYH-associated polyposis
• Autosomal recessive multiple epiphyseal dysplasia - See Multiple epiphyseal dysplasia 4
• Autosomal recessive multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Autosomal recessive neuronal ceroid lipofuscinosis 4A - See
• Autosomal recessive non-lethal multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Autosomal recessive nonsyndromic congenital nuclear cataract
• Autosomal recessive nonsyndromic mental retardation-18 - See MED23
• Autosomal recessive Noonan syndrome - See
• Autosomal recessive optic atrophy plus syndrome - See OPA3 defect
• Autosomal recessive optic atrophy type 3 - See OPA3 defect
• 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 palmoplantar keratoderma and congenital alopecia
• Autosomal recessive Parkinson disease 9 - See Parkinson disease type 9
• Autosomal recessive polycystic kidney disease
• Autosomal recessive primary microcephaly
• Autosomal recessive progressive external ophthalmoplegia - See Progressive external ophthalmoplegia, autosomal recessive 1
• Autosomal recessive protein C deficiency
• Autosomal recessive pseudohypoaldosteronism type 1
• Autosomal recessive sensorineural hearing impairment and goiter - See Pendred syndrome
• 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 ataxia type 4 - See Autosomal recessive spastic ataxia 4
• Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - See Autosomal recessive spastic ataxia 4
• 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 Troyer syndrome
• Autosomal recessive spastic paraplegia type 23 - See Spastic paraplegia 23
• Autosomal recessive spastic paraplegia type 32 - See Spastic paraplegia 32
• autosomal recessive spinocerebellar ataxia 8 - See Spinocerebellar ataxia autosomal recessive 8
• Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive spinocerebellar ataxia type 9 - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive spinocerebellar ataxia-1 - See Spinocerebellar ataxia with axonal neuropathy type 2
• 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
• AUTS14B - See 16p11.2 duplication
• 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
• 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 Charcot-Marie-Tooth disease with pyramidal involvement - See Charcot-Marie-Tooth disease type 2H
• Axonal neuropathy with palmoplantar keratoderma - See Keratoderma palmoplantar spastic paralysis
• AXPC1 - See Posterior column ataxia with retinitis pigmentosa
• Ayazi syndrome
• AZOOR - See Acute zonal occult outer retinopathy
• Azoospermia obstructive and chronic sinopulmonary infections - See Young syndrome
• Azorean neurologic disease - See Spinocerebellar ataxia 3
• Azul - See Pinta