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

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



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.



A 1/4

• 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 - SeeGenitopatellar 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 - SeeRapadilino syndrome
• Abuelo Forman Rubin syndrome - See Alpha-thalassemia-abnormal morphogenesis
• Abuse dwarfism syndrome - See Psychosocial short stature
• AC deficiency - See Farber's disease
• ACAD8 deficiency - See Isobutyryl-CoA dehydrogenase deficiency
• ACADL deficiency - See LCAD deficiency
• ACADM deficiency - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
• ACADS deficiency - See Short-chain acyl-CoA dehydrogenase deficiency
• Acalculous cholecystitis - See Cholecystitis
• Acalvaria
• Acanthamoeba keratitis
• Acanthocheilonema perstans infection - See Acanthocheilonemiasis
• Acanthocheilonemiasis
• Acanthocytosis with neurologic disorder - See Chorea-acanthocytosis
• Acanthoma
• Acanthoma of the nail matrix - See Onychocytic matricoma
• Acanthosis nigricans - 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 and severe combined immunodeficiency
• Achondroplasia and Swiss type agammaglobulinemia
• Achondroplasia so-called and severe combined immunodeficiency - See Achondroplasia and severe combined immunodeficiency
• Achondroplastic dwarfism - See Achondroplasia
• ACHOO syndrome - See Autosomal dominant compelling helio ophthalmic outburst syndrome
• ACHP - See Acheiropody
• Achromatopsia 2
• Achromatopsia 3
• Achromatopsia incomplete X-linked - See Blue cone monochromatism
• Achromatopsia with myopia - See Achromatopsia 3
• Acid beta-glucosidase deficiency - See Gaucher disease type 1
• Acid ceramidase deficiency - See Farber's disease
• Acid maltase deficiency disease - See Glycogen storage disease type 2
• Acidemia, methylmalonic - See Methylmalonic acidemia
• Acinic cell carcinoma
• Acinic cell tumor - See Acinic cell carcinoma
• Acitretin embryofetopathy - See Acitretin embryopathy
• Acitretin embryopathy
• Ackee poisoning - See Jamaican vomiting sickness
• Ackerman 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
• ACPS 3 - See Sakati syndrome
• ACPS with leg hypoplasia - See Sakati 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 lipoatrophic diabetes - Another name for 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 coxo mesomelic dysplasia
• Acro dermato ungual lacrimal tooth syndrome - See ADULT syndrome
• Acro fronto facio nasal dysostosis - See Acrofrontofacionasal dysostosis syndrome
• Acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation - See Hordnes Engebretsen Knudtson syndrome
• Acrocallosal syndrome - See Acrocallosal syndrome, Schinzel type
• Acrocallosal syndrome, Schinzel type
• Acrocapitofemoral dysplasia
• Acrocardiofacial syndrome
• Acro-cardio-facial syndrome - See Acrocardiofacial syndrome
• Acrocephalopolydactylous dysplasia
• Acrocephalopolydactyly
• Acrocephalopolysyndactyly type 2 - See Carpenter syndrome
• Acrocephalopolysyndactyly type 3 - See Sakati 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
• 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