Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [A]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• 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 Al-Awadi-Raas-Rothschild syndrome
• Aarskog disease - See Aarskog syndrome
• Aarskog Scott syndrome - See Aarskog syndrome
• Aarskog syndrome
• Aarskog-Ose-Pande syndrome - See SHORT syndrome
• Aase syndrome - See Diamond-Blackfan anemia
• Aase-Smith II syndrome - See Diamond-Blackfan anemia
• 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
• Aaxia-oculomotor apraxia-3 - See Ataxia with oculomotor apraxia type 3
• ABAT - See Gamma aminobutyric acid transaminase deficiency
• 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 Granular cell tumor
• Abrikosoff's tumor - See Granular cell tumor
• Abrikosov’s tumor - See Granular cell 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 Al-Awadi-Raas-Rothschild syndrome
• 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 patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome - 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
• 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 - not a rare disease
• 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
• Accesory navicular syndrome - See Accessory navicular bone - not a rare disease
• Accessory deep peroneal nerve
• Accessory navicular bone - not a rare disease
• Accessory nipple - See Supernumerary nipple - not a rare disease
• Accessory pancreas
• ACCPN - See Andermann syndrome
• Accutane fetal effects of - See Fetal retinoid syndrome
• Accutane-exposed pregnancies - See Fetal retinoid syndrome
• ACD - See Acute cholinergic dysautonomia
• ACD - See Acrofacial dysostosis Catania type
• 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
• ACFS - See Acrocardiofacial syndrome
• ACG1A - See Achondrogenesis
• ACG1B - See Achondrogenesis
• ACG2 - See Achondrogenesis
• ACH - See Achondroplasia
• Achalasia - See Idiopathic achalasia
• Achalasia Addisonianism Alacrimia syndrome - See Triple A syndrome
• Achalasia alacrima syndrome - See Triple A syndrome
• Achalasia cardia - See Idiopathic 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
• Achondrogenesis Houston-Harris type - See Achondrogenesis
• Achondrogenesis type 1A - See Achondrogenesis
• Achondrogenesis type 1B - See Achondrogenesis
• Achondrogenesis type 2 - See Achondrogenesis
• Achondrogenesis type II (formerly) - See Chondrodysplasia, Grebe type
• Achondrogenesis, Langer-Saldino type - See Achondrogenesis
• Achondroplasia
• Achondroplasia so-called and severe combined immunodeficiency - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• Achondroplasia-SCID syndrome - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• Achondroplasia-severe combined immunodeficiency syndrome - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• Achondroplasia-Swiss type agammaglobulinemia syndrome - See Short-limb skeletal dysplasia with 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 fused molar roots syndrome - See Pyramidal molars-abnormal upper lip 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
• Acquired adult-onset immunodeficiency - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• 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 VII deficiency - See Acquired hemophilia A
• Acquired generalized lipodystrophy
• Acquired haemophilia - See Acquired hemophilia
• Acquired hemophilia
• Acquired hemophilia A
• Acquired hyperostosis syndrome - See SAPHO syndrome
• Acquired ichthyosis - See Ichthyosis, acquired
• Acquired idiopathic sideroblastic anemia - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Acquired lipoatrophic diabetes - See Acquired generalized lipodystrophy
• Acquired neuromyotonia - See Isaacs' syndrome
• Acquired pernicious anemia - See Pernicious anemia - not a rare disease
• Acquired PRCA - See Acquired pure red cell aplasia
• Acquired pulmonary alveolar proteinosis - See Autoimmune 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 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
• Acrocardiofacial syndrome
• Acro-cardio-facial syndrome - See Acrocardiofacial syndrome
• Acrocephalopolydactylous dysplasia - See Acrocephalopolydactyly
• Acrocephalopolydactyly
• Acrocephalopolysyndactyly type 2 - See Carpenter syndrome
• Acrocephalo-syndactyly type 1 - See Apert syndrome
• Acrocephalosyndactyly type 3 - See Saethre-Chotzen syndrome
• Acrocephalosyndactyly type 5 - See Pfeiffer 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
• Acro-oto-ocular syndrome - See Pseudopapilledema blepharophimosis hand anomalies
• 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
• 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
• ACSL4-related intellectual disability
• ACSV - 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 flaccid myelitis
• 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 Transient infantile liver failure
• Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins - See Transient infantile liver failure
• Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - See Transient infantile liver failure
• Acute infantile liver failure-multisystemic involvement syndrome - See Infantile liver failure syndrome 1
• 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 - See Acute leukemia of ambiguous lineage
• 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 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 3 - See Acute promyelocytic leukemia
• 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 leukaemia with myelodysplasia-related features - See AML with myelodysplasia-related features
• 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 inv(3)(q21q26.2) or t(3;3)(q21;q26.2) - See Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
• Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
• Acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2) - See 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 encephalitis - See Acute necrotizing encephalopathy
• Acute necrotizing encephalopathy
• Acute necrotizing encephalopathy type 1 - See Infection-induced acute encephalopathy 3
• 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 Broken heart syndrome
• 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 Early-onset, autosomal dominant Alzheimer disease
• AD2 - See Late-Onset Familial Alzheimer Disease
• AD3 - See Early-onset, autosomal dominant Alzheimer disease
• AD4 - See Early-onset, autosomal dominant Alzheimer disease
• ADA deficiency - See Adenosine deaminase deficiency
• 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
• ADANE - See Infection-induced acute encephalopathy 3
• Adaptor Protein Complex 4 Deficiency - See AP-4-Associated Hereditary Spastic Paraplegia
• 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
• ADCA-DN syndrome - 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 Pernicious anemia - not a rare disease
• Addisonian achalasia syndrome - See Triple A syndrome
• Addisonian anemia - See Pernicious anemia - not a rare disease
• Addison's disease
• Adducted thumb clubfoot syndrome - See Musculocontractural Ehlers-Danlos syndrome
• Adducted thumb with mental retardation - See Spastic paraplegia 1
• 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 Kidney - See Renal cell carcinoma
• Adenocarcinoma of Small Bowel - See Small Intestinal Adenocarcinoma
• Adenocarcinoma of small instestine - See Small Intestinal Adenocarcinoma
• Adenocarcinoma of the appendix
• Adenocarcinoma of the small bowel - See Small Intestinal Adenocarcinoma
• Adenocarcinoma of the small instestine - See Small Intestinal Adenocarcinoma
• 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
• Adenomucinosis - See Pseudomyxoma peritonei
• Adenomyo-epithelioma - See Epithelial-myoepithelial carcinoma
• Adenomyosis - not a rare disease
• 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
• Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities - See Absence of fingerprints congenital milia
• 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 Hypothalamic obesity
• Adiposogenital dystrophy - See Hypothalamic obesity
• ADLD - See Autosomal dominant leukodystrophy with autonomic disease
• ADLTE - See Autosomal dominant partial epilepsy with auditory features
• ADM - See Amyopathic dermatomyositis
• ADMERF - See Hereditary proximal myopathy with early respiratory failure
• 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
• ADNP-related syndromic intellectual disability-autism spectrum disorder - See ADNP syndrome
• ADOA - See Dominant optic atrophy
• Adolescent idiopathic scoliosis - not a rare disease
• Adolescent-onset dystonia of mixed type - See DYT-THAP1
• ADP platelet receptor P2Y12 defect - See Bleeding disorder due to P2RY12 defect
• ADPEAF - See Autosomal dominant partial epilepsy with auditory features
• ADPKD - See Autosomal dominant polycystic kidney disease - not a rare disease
• ADPKD - See 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 Gland Chromaffin Paraganglioma - See Pheochromocytoma
• Adrenal Gland Chromaffinoma - See Pheochromocytoma
• Adrenal gland hyperfunction - See Hyperadrenalism
• Adrenal gland hypofunction - See Addison's disease
• Adrenal Gland Paraganglioma - See Pheochromocytoma
• Adrenal Gland Pheochromocytoma - See Pheochromocytoma
• 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
• ADTKD - See Autosomal dominant tubulointerstitial kidney disease
• ADTKD due to MUC1 mutations - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• ADTKD due to REN mutations - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• ADTKD due to UMOD mutations - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• ADTKD-MUC1 - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• ADTKD-REN - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• ADTKD-UMOD - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Adult dermatomyositis - See Dermatomyositis
• 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 onset cranial-cervical dystonia - See DYT-GNAL
• Adult onset immunodeficiency syndrome - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• Adult paranasal sinus cancer - See Paranasal sinus cancer, adult
• Adult polyglucosan body disease
• 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 autosomal dominant demyelinating leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
• Adult-onset autosomal dominant leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
• Adult-onset citrullinemia type 2 - See Adult-onset citrullinemia type II
• Adult-onset citrullinemia type II
• Adult-onset dystonia-parkinsonism - See NBIA/DYT/PARK-PLA2G6
• Adult-onset foveomacular vitelliform dystrophy - See Adult-onset vitelliform macular dystrophy
• Adult-onset immunodeficiency due to anti-interferon-gamma autoantibody - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• 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 Autosomal dominant vitreoretinochoroidopathy
• Adynamia episodica hereditaria with or without myotonia - See Hyperkalemic periodic paralysis
• AE - See Acrodermatitis enteropathica
• AEC syndrome - See Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• aEDS - See Arthrochalasia Ehlers-Danlos 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 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 facial anomalies and Robin sequence - See Toriello-Carey 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 fibromatosis - See Desmoid tumor
• Aggressive natural killer cell leukemia - See Aggressive NK cell leukemia
• Aggressive NK cell leukemia
• AGID - See Autoimmune gastrointestinal dysmotility
• Aglossia adactylia - See Hanhart syndrome
• Aglossia and Situs Inversus
• Aglucosidase alfa - See Glycogen storage disease type 2
• AGMX2 - See Agammaglobulinemia X-linked type 2
• Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment - See Agnathia-microstomia-synotia
• Agnathia-holoprosencephaly - See Dysgnathia complex
• Agnathia-microstomia-synotia
• Agnogenic myeloid metaplasia - See Myelofibrosis
• Agnosia
• Agonadism with multiple internal malformations - See PAGOD syndrome
• AGPAT2-related Brunzell syndrome - See Congenital generalized lipodystrophy type 1
• AGPS deficiency - See Rhizomelic chondrodysplasia punctata
• 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
• AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - See Xia-Gibbs syndrome
• 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 Pseudohypoparathyroidism with Albright 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 Autoimmune Inner Ear disease
• AIED - See Aland island eye disease
• AIH - See Autoimmune hepatitis
• AIH - See Amelogenesis imperfecta hypomaturation type
• AIH1 - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
• AIH3 (formerly) - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
• AIMAH - See ACTH-independent macronodular adrenal hyperplasia
• Ainhum
• AION - See Anterior ischemic optic neuropathy
• AIP - See Acute intermittent porphyria
• AIPDS - See Otulipenia
• Airway-centered idiopathic interstitial pneumonia - See Airway-centered interstitial fibrosis
• Airway-centered interstitial fibrosis
• AIS - See Androgen insensitivity syndrome
• AISA - See Sideroblastic anemia pyridoxine-refractory autosomal recessive
• 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 Familial partial lipodystrophy
• AKT2-related FPLD - See Familial partial lipodystrophy
• AKU - See Alkaptonuria
• AL amyloidosis
• 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
• Alacrimia-choreoathetosis-liver dysfunction syndrome - See Deficiency of N-glycanase 1
• 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 Al-Awadi-Raas-Rothschild syndrome
• Al-Awadi-Raas-Rothschild syndrome
• Albers-Schoenberg disease - See Osteopetrosis
• Albers-Schonberg disease - See Osteopetrosis
• Albers-Schonberg osteopetrosis - See Osteopetrosis
• Albers-Schönberg osteopetrosis - See Osteopetrosis autosomal dominant type 2
• 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 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, 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-deafness syndrome - See Albinism deafness syndrome
• Albinism-Microcephaly digital anomalies syndrome - See Microcephaly-albinism-digital anomalies syndrome
• Albinoidism - See Oculocutaneous albinism type 2
• Albright hereditary osteodystrophy - See Pseudohypoparathyroidism with Albright 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 - See Pseudohypoparathyroidism with Albright 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 - not a rare disease
• Alcohol-Related Neurodevelopmental Disorder (ARND) - type - See Fetal Alcohol Spectrum Disorders - not a rare disease
• Alcohol-responsive dystonia - See Myoclonus-dystonia
• 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)
• ALG12-CDG (CDG-Ig) - See 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) - See ALG1-CDG (CDG-Ik)
• ALG1-CDG (CDG-Ik)
• ALG2-CDG - See ALG2-CDG (CDG-Ii)
• ALG2-CDG (CDG-Ii)
• ALG2-CDG (CDG-Ii) - See ALG2-CDG (CDG-Ii)
• ALG3-CDG - See ALG3-CDG (CDG-Id)
• ALG3-CDG (CDG-Id) - See ALG3-CDG (CDG-Id)
• ALG3-CDG (CDG-Id)
• ALG6-CDG - See ALG6-CDG (CDG-Ic)
• ALG6-CDG (CDG-Ic) - See ALG6-CDG (CDG-Ic)
• ALG6-CDG (CDG-Ic)
• ALG8-CDG - See ALG8-CDG (CDG-Ih)
• ALG8-CDG (CDG-Ih)
• ALG8-CDG (CDG-Ih) - See ALG8-CDG (CDG-Ih)
• ALG9-CDG - See ALG9-CDG (CDG-IL)
• ALG9-CDG (CDG-IL)
• ALG9-CDG (CDG-IL) - See ALG9-CDG (CDG-IL)
• Al-Gazali-Donnai-Mueller syndrome
• ALI - See Acute respiratory distress syndrome
• Alibert-Bazin syndrome - See Mycosis fungoides
• Alien hand syndrome
• ALK+ histiocytosis
• Alkaptonuria
• Alkaptonuric ochronosis - See Alkaptonuria
• ALKURAYA SYNDROME - See MGAT2-CDG (CDG-IIa)
• Alkyglycerone-Phosphate synthase deficiency - See Rhizomelic chondrodysplasia punctata
• Alkyldihydroxyacetonephosphate synthase deficiency - See Rhizomelic chondrodysplasia punctata
• 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
• 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 deafness hypogonadism - See Crandall syndrome
• Alopecia epilepsy oligophrenia syndrome of Moynahan
• Alopecia intellectual disability syndrome 2 - See Alopecia intellectual disability syndrome 2
• Alopecia intellectual disability syndrome 2
• Alopecia Intellectual disbility syndrome 1 - See Alopecia-intellectual disability syndrome
• Alopecia totalis
• Alopecia universalis
• Alopecia Universalis Congenita, Mari type - See Total Hypotrichosis, Mari type
• Alopecia universalis onychodystrophy vitiligo
• Alopecia universalis, onychodystrophy, and total vitiligo - See Alopecia universalis onychodystrophy vitiligo
• Alopecia with mild to moderate intellectual deficit - See Alopecia 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, 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-epilepsy-intellectual disability syndrome, Moynahan type - See Alopecia epilepsy oligophrenia syndrome of Moynahan
• 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
• Alpha thalassemia - See Alpha-thalassemia
• Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked - See Alpha-thalassemia x-linked intellectual disability syndrome
• Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity - See Combined immunodeficiency due to partial RAG1 deficiency
• Alpha-1 antitrypsin deficiency
• Alpha-1,4-glucosidase deficiency - See Glycogen storage disease type 2
• 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
• 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 3 - See N-acetyl-alpha-D-galactosaminidase deficiency type III
• 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
• ALS - See Amyotrophic lateral sclerosis
• ALS1 - See Amyotrophic lateral sclerosis
• ALS10 - See Amyotrophic lateral sclerosis
• ALS11 - See Amyotrophic lateral sclerosis
• ALS2 - See Amyotrophic lateral sclerosis
• ALS3 - See Amyotrophic lateral sclerosis
• ALS4 - See Amyotrophic lateral sclerosis
• ALS5 - See Amyotrophic lateral sclerosis
• ALS6 - See Amyotrophic lateral sclerosis
• ALS7 - See Amyotrophic lateral sclerosis
• ALS8 - See Amyotrophic lateral sclerosis
• ALS9 - See Amyotrophic lateral sclerosis
• 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
• Aluminosis
• Aluminosis of lung - See Aluminosis
• Aluminosis pulmonum - See Aluminosis
• Aluminum pneumoconiosis - See Aluminosis
• 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 Frontonasal dysplasia
• ALX3-related frontonasal dysplasia - See Frontonasal dysplasia
• ALX4-related FNDAG - See Frontonasal dysplasia
• Alymphoid cystic thymic dysgenesis - See T-cell immunodeficiency, congenital alopecia and nail dystrophy
• Alzheimer disease - not a rare disease
• Alzheimer disease 1 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease 3 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease 4 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease associated with APOE E4 - See Late-Onset Familial Alzheimer Disease
• Alzheimer disease early onset type 3 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease familial type 4 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease type 1 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease type 2 - See Late-Onset Familial Alzheimer Disease
• Alzheimer disease type 3 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer disease type 4 - See Early-onset, autosomal dominant Alzheimer disease
• Alzheimer's disease without neurofibrillary tangles
• Amastia - See Absent breasts and nipples
• Amaurosis congenita cone-rod type with congenital hypertrichosis
• Amaurosis congenita of Leber - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 1 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 10 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 11 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 12 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 2 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 3 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 4 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 5 - See Leber congenital amaurosis
• Amaurosis congenita of Leber, type 9 - See Leber congenital amaurosis
• 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
• Ameloblastic carcinoma
• Ameloblastic carcinoma - See 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
• American trypanosomiasis - See Chagas disease - not a rare disease
• 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 - See Amish Nemaline Myopathy
• 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 inv(3)(q21q26.2) or t(3;3)(q21;q26.2) - See Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
• 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 inv3(q21;q26.2) or t(3;3)(q21;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
• AMMoL - See Acute myelomonocytic leukemia
• AMN - See Adrenomyeloneuropathy
•