Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program A/3

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





A/3



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.

• 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 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 Amelogenesis imperfecta hypomaturation type
• AIH - See Autoimmune hepatitis
• 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
• 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
• 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 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 - 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) - 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) - 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)
• 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
• 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
• 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 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 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-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 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
• 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
• 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, 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 Macular degeneration - not a rare disease
• AMD - See Adrenomyodystrophy
• AMDG - See Chondrodysplasia, Grebe type
• AMDM - See Acromesomelic dysplasia Maroteaux type
• AME - See Apparent mineralocorticoid excess
• AME 1 - See Apparent mineralocorticoid excess
• Amebiasis
• Amebic dysentery - See Amebiasis
• Amelia cleft lip palate hydrocephalus iris coloboma - See Brachial amelia, cleft lip, and holoprosencephaly
• 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
• 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 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
• 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
• Amyotonia congenita
• Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 10 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 11 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 3 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 4 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 5 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 7 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 8 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 9 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 1 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 10 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 11 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 2 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 3 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 4 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 5 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 6 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 7 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 8 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 9 - See Amyotrophic lateral sclerosis
• 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 - not a rare disease
• 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 pleomorphic xanthoastrocytoma
• Anaplastic skeletal plasmacytoma (type) - See Anaplastic plasmacytoma
• Anaplastic small cell lymphoma
• Anaplastic thyroid cancer
• Anaplastic thyroid carcinoma - See Anaplastic thyroid cancer
• 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
• ANE - See Acute necrotizing encephalopathy
• ANE1 - See Infection-induced acute encephalopathy 3
• 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
• Angina inversa - See Prinzmetal's variant angina
• Angiocentric T-cell lymphoma - See Extranodal nasal NK/T cell lymphoma
• Angioedema, acquired - See Acquired angioedema
• Angioedema, hereditary - See Hereditary angioedema
• Angioedema, vibratory - See Vibratory urticaria
• Angiofollicular ganglionic hyperplasia - See Castleman disease
• Angiofollicular lymph hyperplasia
• Angiofollicular lymph hyperplasia - See Castleman disease
• 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
• 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
• 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
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - See Hay-Wells syndrome
• Ankylosing spondylitis - not a rare disease
• Ankylosing spondyloarthritis - See Ankylosing spondylitis - not a rare disease
• Ankylosing vertebral hyperostosis with tylosis
• Ankylosis of teeth
• Ankylosis of the temporomandibular joint (TMJ) - See Temporomandibular ankylosis
• Ankyrin-B syndrome
• 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 - not a rare disease
• Anonychia and absence/hypoplasia of distal phalanges - See Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
• Anonychia congenita
• Anonychia ectrodactyly