Browse A-Z

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

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 Schinzel type phocomelia
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
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 Human HOXA1 Syndromes
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
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 Schinzel type phocomelia
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 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 Acrofacial dysostosis Catania type
ACD - See Acute cholinergic dysautonomia
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 disease
Acid maltase deficiency disease - See Glycogen storage disease type 2
Acidemia, methylmalonic - See Methylmalonic acidemia
ACIF - See Airway-centered interstitial fibrosis
Acinic cell carcinoma
Acinic cell tumor - See Acinic cell carcinoma
Acitretin embryofetopathy - See Acitretin embryopathy
Acitretin embryopathy
Ackee poisoning - See Acute ackee fruit intoxication
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
Acroosteolysis-keloid-like lesions-premature aging 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 ackee fruit intoxication
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
Acute leukemia of ambiguous lineage - See Acute leukemia of ambiguous lineage
Acute leukemia of indeterminate lineage - See Acute leukemia of ambiguous lineage
Acute leukemia of undetermined lineage - See Acute leukemia of ambiguous lineage
Acute lipodermatosclerosis - See Lipodermatosclerosis
Acute lung injury - See Acute respiratory distress syndrome
Acute lymphoblastic leukemia
Acute lymphoblastic leukemia congenital sporadic aniridia
Acute lymphocytic leukemia - See Acute lymphoblastic leukemia
Acute Marchiafava-Bignami disease - See Marchiafava Bignami disease
Acute megakaryoblastic leukemia
Acute megakaryocytic leukemia - See Acute megakaryoblastic leukemia
Acute membranous gingivitis - See Acute necrotizing ulcerative gingivitis
Acute 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
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
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 X-linked cerebral adrenoleukodystrophy
Adrenoleukodystrophy X-linked cerebral form - See X-linked cerebral adrenoleukodystrophy
Adrenomyeloneuropathy
Adrenomyodystrophy
ADRVCL - See Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
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 citrin deficiency - See Citrullinemia type II
Adult-onset citrullinemia type 2 - See Citrullinemia type II
Adult-onset citrullinemia type II - See 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 type II citrullinemia, - See Citrullinemia type II
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 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 Primary 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
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
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 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
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 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 Schinzel type phocomelia
Al-Awadi-Raas-Rothschild syndrome - See Schinzel type phocomelia
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, 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 X-linked cerebral 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) - See ALG2-CDG (CDG-Ii)
ALG2-CDG (CDG-Ii)
ALG3-CDG - See ALG3-CDG (CDG-Id)
ALG3-CDG (CDG-Id)
ALG3-CDG (CDG-Id) - See ALG3-CDG (CDG-Id)
ALG6-CDG - See ALG6-CDG (CDG-Ic)
ALG6-CDG (CDG-Ic) - 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
Alopecia intellectual disability syndrome 2 - See 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, epilepsy, pyorrhea, mental subnormality
Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality - See Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism intellectual disabilitysyndrome - 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-dystroglycan-related limb-girdle muscular dystrophy R16 - See Limb-girdle muscular dystrophy type 1A
Alpha-dystroglycan-related LGMD R16 - See Limb-girdle muscular dystrophy type 1A
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 - See Ameloblastic carcinoma
Ameloblastic carcinoma
Ameloblastoma
Amelogenesis imperfecta
Amelogenesis imperfecta 3, hypoplastic type (formerly) - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
Amelogenesis imperfecta and nephrocalcinosis - See Amelogenesis imperfecta hypoplastic type, IG
Amelogenesis imperfecta and platyspondyly - See Verloes Bourguignon syndrome
Amelogenesis imperfecta hypomaturation type
Amelogenesis imperfecta hypoplastic type, IG
Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
Amelogenesis imperfecta local hypoplastic
Amelogenesis imperfecta nephrocalcinosis
Amelogenesis imperfecta pigmented hypomaturation type
Amelogenesis imperfecta X-linked 1 - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
Ameloonychohypohidrotic syndrome
Amenorrhea galactorrhea FSH decrease syndrome - See Ahumada Del Castillo syndrome
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 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
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 Primary localized cutaneous nodular amyloidosis
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 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 CYLD cutaneous 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 - See Castleman disease
Angioimmunoblastic lymphadenopathy with dysproteinemia
Angioimmunoblastic T-cell lymphoma
Angioimmunoblastic with dysproteinemia lymphadenopathy - See Angioimmunoblastic lymphadenopathy with dysproteinemia
Angiokeratoma corporis diffusum - See Fabry disease
Angiokeratoma, diffuse - See Fabry disease
Angioma hereditary neurocutaneous
Angioma serpiginosum
Angioma tufted - See Tufted angioma
Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
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
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 Ankyloblepharon-ectodermal defects-cleft lip/palate 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
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
Ankylostomiasis - See Ancylostomiasis
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 aortic dissection
Anoctamin-5-related limb-girdle muscular dystrophy R12 - See Limb-girdle muscular dystrophy
Anoctamin-5-related LGMD R12 - See Limb-girdle muscular dystrophy
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
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
ANOP2 (formerly) - See Oculofaciocardiodental syndrome
Anophthalmia cleft palate micrognathia
Anophthalmia clinical with associated anomalies - See Syndromic microphthalmia, type 3
Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia - See Microphthalmia syndromic 6
Anophthalmia esophageal atresia cryptorchidism
Anophthalmia esophageal genital syndrome - See Syndromic microphthalmia, type 3
Anophthalmia megalocornea cardiopathy skeletal anomalies
Anophthalmia microphthalmia esophageal atresia - See Syndromic microphthalmia, type 3
Anophthalmia plus syndrome
Anophthalmia Waardenburg syndrome - See Anophthalmos with limb anomalies
Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder - See Anophthalmia plus syndrome
Anophthalmia/microphthalmia and pulmonary hypoplasia - See Microphthalmia syndromic 9
Anophthalmos with limb anomalies
Anophthalmos-syndactyly - See Anophthalmos with limb anomalies
Anorchia
Anorectal Malformations - See Imperforate anus
Anosmic hypogonadism - See Kallmann syndrome
Anosmic idiopathic hypogonadotropic hypogonadism - See Kallmann syndrome
ANOTHER syndrome - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Anotia facial palsy cardiac defect
Anotia/microtia, upslanted fissures, sutural synostosis,multiple - See Wisconsin syndrome
ANSD - See Auditory neuropathy spectrum disorder
Antecubital pterygium
Antenatal Bartter Syndrome type 1 - See Bartter syndrome antenatal type 1
Antenatal diethylstilbestrol exposure - See Diethylstilbestrol syndrome
Antenatal herpes simplex virus infection - See Congenital herpes simplex
Antenatal indomethacin exposure - See Fetal indomethacin syndrome
Anterior cervical hypertrichosis - See Isolated anterior cervical hypertrichosis
Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis - See Jung Wolff Back Stahl syndrome
Anterior ischemic optic neuropathy
Anterior segment developmental anomaly - See Anterior segment dysgenesis
Anterior segment dysgenesis
Anterior segment mesenchymal dysgenesis - See Anterior segment dysgenesis
Anterior segment ocular dysgenesis - See Anterior segment dysgenesis
Anterior spinal artery stroke
Anterior submucous laryngeal cleft (subtype) - See Laryngeal cleft
Anterior uveitis
Anthrax
Anthrax, skin type - See Cutaneous anthrax
Antibody Deficiency - See Primary agammaglobulinemia
Anti-C1q vasculitis - See Hypocomplementemic urticarial vasculitis
Antigen-peptide-transporter 2 deficiency
Anti-glomerular basement membrane antibody disease - See Goodpasture syndrome
Anti-HLA hyperimmunization
Anti-HMG-CoA myopathy - See Necrotizing autoimmune myopathy
Anti-IFN-gamma autoantibody syndrome - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Anti-Jo1 syndrome - See Antisynthetase syndrome
Antineutrophil cytoplasmic antibody-associated vasculitis - See ANCA-associated vasculitis
Anti-neutrophil cytoplasmic antibody-associated vasculitis - See ANCA-associated vasculitis
Antiphospholipid antibody syndrome - See Antiphospholipid syndrome
Antiphospholipid syndrome
Anti-PIT-1 antibody syndrome
Antiplasmin deficiency, congenital - See Anti-plasmin deficiency, congenital
Anti-plasmin deficiency, congenital
Antiquitin deficiency - See Pyridoxine-dependent epilepsy
Anti-SRP myopathy - See Necrotizing autoimmune myopathy
Antisynthetase syndrome
Antithrombin deficiency type 2 - See Hereditary antithrombin deficiency type 2
Antithrombin III Deficiency - See Hereditary antithrombin deficiency
Antithrombmin III deficiency Type II - See Hereditary antithrombin deficiency type 2
Antley Bixler syndrome
Anton-Babinski syndrome - See Anton's syndrome
Antoni's palsy - See Bell's palsy
Anton's syndrome
Antopol disease - See Danon disease
ANUG - See Acute necrotizing ulcerative gingivitis
Anus, imperforate, with hand, foot and ear anomalies - See Townes-Brocks syndrome
AO2 - See Atelosteogenesis type 2
AO3 - See Atelosteogenesis type 3
AOA1 - See Ataxia with oculomotor apraxia type 1
AOA2 - See Ataxia with Oculomotor Apraxia Type 2
AOA3 - See Ataxia with oculomotor apraxia type 3
AOA4 - See Ataxia with oculomotor apraxia type 4
AOCH - See Acromegaloid features, overgrowth, cleft palate and hernia
AOI - See Infantile apnea
AOI - See Atelosteogenesis type 1
AOII - See Atelosteogenesis type 2
AOIII - See Atelosteogenesis type 3
AOMS1 - See Abdominal obesity metabolic syndrome
AORRP (type) - See Recurrent respiratory papillomatosis
Aorta-pulmonary artery fistula
Aortic aneurysm syndrome, Loeys-Dietz type - See Loeys-Dietz syndrome
Aortic aneurysm, familial thoracic 4
Aortic aneurysm/aortic dissection and patent ductus arteriosus - See Aortic aneurysm, familial thoracic 4
Aortic arch anomaly - peculiar facies - intellectual disability
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - See Aortic arch anomaly - peculiar facies - intellectual disability
Aortic arch anomaly-peculiar facies-intellectual disability syndrome - See Aortic arch anomaly - peculiar facies - intellectual disability
Aortic arch defects - See Aortic arches defect
Aortic arch interruption
Aortic arch syndrome - See Takayasu arteritis
Aortic arches defect
Aortic coarctation
Aortic dissection lentiginosis
Aortic stenosis - See Aortic valve stenosis
Aortic supravalvular stenosis - See Supravalvular aortic stenosis
Aortic valve stenosis
Aortic valves stenosis of the child
Aortic-pulmonary window - See Aortopulmonary window
Aorto-pulmonary artery fistula - See Aorta-pulmonary artery fistula
Aortopulmonary fistula - See Aorta-pulmonary artery fistula
Aortopulmonary septal defect - See Aortopulmonary window
Aortopulmonary window
Aorto-pulmonary window - See Aortopulmonary window
AOS - See Adams-Oliver syndrome
AP-4 Deficiency - See AP-4-Associated Hereditary Spastic Paraplegia
AP4 deficiency syndrome - See AP-4-Associated Hereditary Spastic Paraplegia
AP4 deficiency syndrome - See Spastic paraplegia 51
AP-4 Deficiency Syndrome - See AP-4-Associated Hereditary Spastic Paraplegia
AP-4-Associated Hereditary Spastic Paraplegia
AP-4-Associated HSP - See AP-4-Associated Hereditary Spastic Paraplegia
APBD - See Adult polyglucosan body disease
APBN - See Adult polyglucosan body disease
APC resistance, Leiden type - See Factor V Leiden thrombophilia - not a rare disease
APCA - See Episodic ataxia with nystagmus
APD - See Progestogen hypersensitivity
APDS - See PASLI disease
Apert syndrome
Apert-Crouzon disease - See Apert syndrome
Aphakia, congenital primary - See Congenital primary aphakia
Aphalangia partial with syndactyly and duplication of metatarsal IV
Aphalangy of the hands and feet, hemivertebrae, and visceral malformations - See Johnson Munson syndrome
Aphalangy with Hemivertebrae - See Johnson Munson syndrome
Aphasia, primary progressive - See Primary progressive aphasia
Aphthous stomatitis
Aphthous Stomatitis, Recurrent - See Sutton disease 2
Aphthous Ulcer, Recurrent - See Sutton disease 2
Apical ballooning syndrome - See Broken heart syndrome
Apical dystrophy - See Coloboma of macula with type B brachydactyly
APL - See Barraquer-Simons syndrome
Aplasia cutis cleft palate epidermolysis - See Jones Hersh Yusk syndrome
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita nonsyndromic - See Aplasia cutis congenita
Aplasia cutis congenita of limbs recessive
Aplasia cutis congenita with epibulbar dermoids - See Oculoectodermal syndrome
Aplasia cutis congenita with gastrointestinal atresia - See Epidermolysis bullosa
Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly - See Jones Hersh Yusk syndrome
Aplasia cutis myopia
Aplasia of cerebellar vermis - See Spinocerebellar ataxia 29
Aplasia of the cord - See Limb-body wall complex
Aplasia of tibia with ectrodactyly - See Cleft hand absent tibia
Aplasia of trochlea of the humerus - See Trochlea of the humerus aplasia of
Aplastic anemia
Aplastic anemia idiopathic - See Aplastic anemia
APML - See Acute promyelocytic leukemia
APMPPE - See Acute posterior multifocal placoid pigment epitheliopathy
APMR1 - See Alopecia-intellectual disability syndrome
APMR2 - See Alopecia intellectual disability syndrome 2
Apnea of infancy - See Infantile apnea
Apnea, Postanesthetic - See Pseudocholinesterase deficiency
Apo A-I deficiency
APOC2 deficiency - See Apolipoprotein C-II deficiency
Apocrine carcinoma
Apocrine miliaria - See Fox-Fordyce disease
Apolipoprotein B deficiency - See Abetalipoproteinemia
Apolipoprotein C-II deficiency
Apparent mineralocorticoid excess
Appelt-Gerken-Lenz syndrome - See Roberts syndrome
Apple peel small bowel syndrome - See Jejunal atresia
Apple peel syndrome - See Jejunal atresia
Apple-peel intestinal atresia - See Jejunal atresia
Apraxia
Apraxia, oculomotor, with congenital contractures and muscle atrophy - See Intellectual disability-developmental delay-contractures syndrome
Aprosencephaly syndrome - See XK aprosencephaly
Aprosencephaly-atelencephaly syndrome - See XK aprosencephaly
APRT deficiency - See Adenine phosphoribosyltransferase deficiency
APRT deficiency - See Dihydroxyadeninuria
APS - See Antiphospholipid syndrome
APS 1 - See Autoimmune polyglandular syndrome type 1
APS2 - See Autoimmune polyglandular syndrome type 2
APS3 - See Autoimmune polyglandular syndrome type 3
APSB - See Jejunal atresia
APVR - See Pulmonary venous return anomaly
Aquagenic keratoderma - See Aquagenic syringeal acrokeratoderma
Aquagenic Palmoplantar Keratoderma - See Aquagenic syringeal acrokeratoderma
Aquagenic pruritus
Aquagenic syringeal acrokeratoderma
Aquagenic urticaria
Aquagenic wrinkling of the hands - See Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms - See Aquagenic syringeal acrokeratoderma
Aqueductal stenosis, X-linked - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
AR dRTA - See Autosomal recessive distal renal tubular acidosis
AR dRTA with hearing loss - See Renal tubular acidosis with deafness
AR dRTA wth deafness - See Renal tubular acidosis with deafness
AR hyperimmunoglobulin E syndrome - See Autosomal recessive hyper IgE syndrome
Arachnodactyly - intellectual disability - dysmorphism
Arachnodactyly, abnormal ossification and mental retardation - See Kosztolanyi syndrome
Arachnodactyly, contractural Beals type - See Congenital contractural arachnodactyly
Arachnodactyly, joint laxity, and spondylolisthesis - See Jaffer Beighton syndrome
Arachnodactyly, receding lower jaw and joint laxity of hands/feet - See Achard syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome - See Arachnodactyly - intellectual disability - dysmorphism
Arachnoid cysts
Arachnoid cysts, intracranial - See Arachnoid cysts
Arachnoid cysts, spinal intradural - See Spinal intradural arachnoid cysts
Arachnoiditis
Arakawa syndrome 1 - See Glutamate formiminotransferase deficiency
Aran Duchenne spinal muscular atrophy - See Adult progressive spinal muscular atrophy Aran Duchenne type
ARAN-NM - See Autosomal recessive axonal neuropathy with neuromyotonia
Arbovirosis
Arbovirus A Chikungunya type - See Chikungunya
Arbovirus fever - See Arbovirosis
ARC syndrome - See Arthrogryposis renal dysfunction cholestasis syndrome
ARCA1 - See Spinocerebellar ataxia autosomal recessive 8
ARCA2 - See Autosomal recessive spinocerebellar ataxia 9
ARCL2A - See Cutis laxa, autosomal recessive type 2A
AR-CMT1 - See Charcot-Marie-Tooth disease type 4
ARCMT2K - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2-NM - See Autosomal recessive axonal neuropathy with neuromyotonia
AR-CNM - See Autosomal recessive centronuclear myopathy
ARDS - See Acute respiratory distress syndrome
AREDYLD
Aredyld Syndrome - See AREDYLD
Aregenerative anemia chronic congenital - See Diamond-Blackfan anemia
Arena syndrome
ARG1 deficiency - See Arginase deficiency
Arginase deficiency
Arginine:glycine amidinotransferase deficiency - See L-arginine:glycine amidinotransferase deficiency
Argininemia - See Arginase deficiency
Arginino succinase deficiency - See Argininosuccinic aciduria
Argininosuccinate acidemia - See Argininosuccinic aciduria
Argininosuccinate lyase deficiency - See Argininosuccinic aciduria
Argininosuccinate synthetase deficiency - See Citrullinemia type I
Argininosuccinic acid lyase deficiency - See Argininosuccinic aciduria
Argininosuccinic aciduria
Argininosuccinicaciduria - See Argininosuccinic aciduria
Argonz Ahumada Del Castillo syndrome - See Ahumada Del Castillo syndrome
Argonz Del Castillo syndrome - See Ahumada Del Castillo syndrome
Argyrophil myenteric plexus deficiency of - See Visceral neuropathy familial
AR-HIES - See Autosomal recessive hyper IgE syndrome
Arhinia choanal atresia microphthalmia
Arias syndrome - See Crigler-Najjar syndrome type 2
ARIH - See Ichthyosis with hypotrichosis, autosomal recessive
Arima syndrome - See Joubert syndrome with oculorenal anomalies
Aristolochic acid nephropathy - See Balkan endemic nephropathy
Arkless-Graham syndrome - See Acrodysostosis
ARM - See Macular degeneration - not a rare disease
ARMS - See Rhabdomyosarcoma alveolar
Arndt-Gottron disease - See Scleromyxedema
Arnold Chiari malformation - See Chiari malformation - not a rare disease
Arnold Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
Arnold Chiari malformation type II - See Chiari malformation type 2
Arnold Chiari malformation type III - See Chiari malformation type 3
Arnold Chiari malformation type IV - See Chiari malformation type 4
Arnold Stickler Bourne syndrome
Arnold-Chiari malformation - See Chiari malformation type 2
Arnold-Chiari malformation type 1 - See Chiari malformation type 1 - not a rare disease
Arnold-Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
Arnold-Chiari malformations - See Chiari malformation - not a rare disease
AROMATASE ACTIVITY, INCREASED - See Aromatase excess syndrome
Aromatase deficiency
Aromatase excess syndrome
Aromatic amino acid decarboxylase deficiency - See Aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency
ARPA familial - See Anomalous origin of right pulmonary artery familial
arPEO - See Progressive external ophthalmoplegia, autosomal recessive 1
ARPKD - See Autosomal recessive polycystic kidney disease
Arrest of spermatogenesis - See Spermatogenesis arrest
Arrhenoblastoma - See Sertoli-leydig cell tumors
Arrhenoblastoma of ovary - See Sertoli-leydig cell tumors
Arrhinia
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia - See Arrhythmogenic right ventricular cardiomyopathy
Arroyo Garcia Cimadevilla syndrome
ARSA deficiency - See Metachromatic leukodystrophy
ARSACS - See Spastic ataxia Charlevoix-Saguenay type
ARSB deficiency - See Mucopolysaccharidosis type VI
Arterial calcification and distal joint calcification - See ACDC
Arterial calcification due to CD73 deficiency - See ACDC
Arterial calcification due to deficiency of CD73 - See ACDC
Arterial calcification of infancy
Arterial tortuosity - See Arterial tortuosity syndrome
Arterial tortuosity syndrome
Arterial-ecchymotic EDS - See Vascular Ehlers-Danlos syndrome
Arteriohepatic dysplasia - See Alagille syndrome
Arteriomesenteric duodenal compression syndrome - See Superior mesenteric artery syndrome
Arteriosclerosis, retina - See Retinopathy, arteriosclerotic
Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes - See Wyburn-Mason syndrome
Arteriovenous malformation, pulmonary - See Pulmonary arteriovenous malformation
Arteritis cranialis - See Giant cell arteritis
Arteritis temporalis - See Giant cell arteritis
Arthogryposis with oculomotor limitation and electroretinal abnormalities - See Distal arthrogryposis type 5
Arthritis, juvenile rheumatoid - See Juvenile idiopathic arthritis - not a rare disease
Arthrochalasia EDS - See Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasis multiplex congenita - See Arthrochalasia Ehlers-Danlos syndrome
Arthrocutaneouveal granulomatosis - See Blau syndrome
Arthrodentoosteodysplasia - See Acroosteolysis dominant type
Arthrogryposis - See Arthrogryposis multiplex congenita
Arthrogryposis - ectodermal dysplasia - other anomalies - See Stoll Alembik Finck syndrome
Arthrogryposis - renal dysfunction - cholestasis - See Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis and ectodermal dysplasia
Arthrogryposis distal type 2A - See Freeman-Sheldon syndrome
Arthrogryposis distal type 3 - See Gordon syndrome
Arthrogryposis distal type 7 - See Trismus-pseudocamptodactyly syndrome
Arthrogryposis due to muscular dystrophy
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis IUGR thoracic dystrophy
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita associated with lissencephaly - See Massa Casaer Ceulemans syndrome
Arthrogryposis multiplex congenita CNS calcification
Arthrogryposis multiplex congenita distal - See Distal arthrogryposis
Arthrogryposis multiplex congenita distal type 1 - See Distal arthrogryposis type 1
Arthrogryposis multiplex congenita distal type 2B - See Sheldon-Hall syndrome
Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities - See Sheldon-Hall syndrome
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita pulmonary hypoplasia
Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder - See Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis multiplex congenita with pulmonary hypoplasia - See Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings - See Arthrogryposis multiplex congenita pulmonary hypoplasia
Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis - See Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis multiplex congenita-whistling face syndrome - See Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex with deafness, inguinal hernias, and early death
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome - See Distal arthrogryposis type 5
Arthrogryposis ophthalmoplegia retinopathy - See Distal arthrogryposis type 5
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis spinal muscular atrophy
Arthrogryposis with Hyperkeratosis - See Johnston Aarons Schelley syndrome
Arthrogryposis with oculomotor limitation and electroretinal abnormalities - See Distal arthrogryposis type 5
Arthrogryposis, distal, type 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Arthrogryposis-like disorder - See Kuskokwim disease
Arthrogryposis-like hand anomaly and sensorineural deafness
Arthrogryposis-like syndrome - See Kuskokwim disease
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - See Distal arthrogryposis type 5
Arthrogryposis-renal dysfunction-cholestasis syndrome - See Arthrogryposis renal dysfunction cholestasis syndrome
Arthro-Onychodysplasia - See Nail-patella syndrome
Arthropathy camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
Arthropathy, progressive pseudorheumatoid, of childhood - See Progressive pseudorheumatoid dysplasia
Arthropathy-camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
Arthrosis, flat face, hypotonia, short neck and macrocephaly - See Kniest like dysplasia lethal
Articular hypermobility syndrome - See Familial joint instability syndrome
Articulatory apraxia - See Childhood apraxia of speech
Artificial joint infection - See Prosthetic joint infection
ARTS - See Arts syndrome
Arts syndrome
ARVC - See Arrhythmogenic right ventricular cardiomyopathy
ARVD - See Arrhythmogenic right ventricular cardiomyopathy
ARX-related intellectual disability
Arylamine n-acetyltransferase 1 - See N acetyltransferase deficiency
Arylsulfatase A deficiency - See Metachromatic leukodystrophy
Arylsulfatase B deficiency - See Mucopolysaccharidosis type VI
Arylsulfatase E deficiency - See Chondrodysplasia punctata 1, X-linked recessive
AS - See Angelman syndrome
AS syndrome - See Antisynthetase syndrome
ASA deficiency - See Argininosuccinic aciduria
ASAT - See Anemia sideroblastic and spinocerebellar ataxia
Asbestosis
ASC - See Broken heart syndrome
Ascher Syndrome
Ascher's syndrome - See Ascher Syndrome
Ascitis, splenomegaly, lymphadenopathy - See Tang Hsi Ryu syndrome
ASCT1 deficiency - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASD - See Autism spectrum disorder - not a rare disease
ASD coronary sinus - See Atrial septal defect coronary sinus
ASD ostium primum type - See Atrial septal defect ostium primum
ASD ostium secundum type - See Ostium secundum atrial septal defect
ASDP - See Anal sphincter dysplasia
Aseptic abscesses syndrome - See Corticosteroid-sensitive aseptic abscesses
Aseptic necrosis of the tarsal bone - See Kohler disease
Aseptic systemic abscesses - See Corticosteroid-sensitive aseptic abscesses
Asherman syndrome - See Asherman's syndrome
Asherman's syndrome
ASL deficiency - See Argininosuccinic aciduria
ASMD - See Anterior segment dysgenesis
ASOD - See Anterior segment dysgenesis
ASP deficiency - See Canavan disease
ASPA deficiency - See Canavan disease
Aspartoacylase deficiency - See Canavan disease
Aspartylglucosamidase (AGA) deficiency - See Aspartylglycosaminuria
Aspartylglucosaminuria - See Aspartylglycosaminuria
Aspartylglycosaminuria
ASPED - See Angel shaped phalangoepiphyseal dysplasia
Asperger disorder - See Asperger syndrome - not a rare disease
Asperger syndrome - not a rare disease
Aspergillosis
Aspergillosis, allergic bronchopulmonary - See Allergic bronchopulmonary aspergillosis
Aspergillus niger infection
Aspergillus niger infection, pulmonary - See Aspergillus niger infection
Asphyxia neonatorum
Asphyxiating thoracic dystrophy - See Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn - See Jeune syndrome
Asplenia syndrome - See Ivemark syndrome
Asplenia with cardiovascular anomalies - See Ivemark syndrome
Asprin-like platelet disorder - See Familial platelet disorder with associated myeloid malignancy
ASPS - See Alveolar soft part sarcoma
Asrar Facharzt Haque syndrome
ASS deficiency - See Citrullinemia type I
ASSA - See Pseudoaminopterin syndrome
Association of cutaneous vascular malformations and different pigmentary disorders - See Phacomatosis pigmentovascularis
Association of muscular pseudohypertrophy and hypothyroidism in children - See Kocher-Debre-Semelaigne syndrome
Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis - See Pyknoachondrogenesis
Asternia
Asthma - not a rare disease
Astley-Kendall dysplasia - See Astley-Kendall syndrome
Astley-Kendall syndrome
Astroblastoma
ASXL2/Shashi-Pena Syndrome - See Shashi-Pena syndrome
ASXL3/Bainbridge-Ropers Syndrome - See Bainbridge-Ropers syndrome
Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia - See Pfeiffer Rockelein syndrome
Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia - See Coronal synostosis, syndactyly and jejunal atresia
Asymmetry in the pigmentation of the irides - See Heterochromia iridis - not a rare disease
Asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes - See Infantile digital fibromatosis
AT - See Ataxia telangiectasia
Ataxia - hypogonadism - choroidal dystrophy
Ataxia telangiectasia
Ataxia with isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
Ataxia with lactic acidosis 1 - See Pyruvate decarboxylase deficiency
Ataxia with lactic acidosis 2 - See Pyruvate carboxylase deficiency
Ataxia with oculomotor apraxia type 1
Ataxia with Oculomotor Apraxia Type 2
Ataxia with oculomotor apraxia type 3
Ataxia with oculomotor apraxia type 4
Ataxia with vitamin E deficiency
Ataxia, chorea, seizures, and dementia - See Dentatorubral-pallidoluysian atrophy
Ataxia, familial, paroxysmal - See Episodic ataxia with nystagmus
Ataxia, harding type - See Harding ataxia
Ataxia, hearing loss, and mental retardation - See Reardon Wilson Cavanagh syndrome
Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency - See Pyruvate decarboxylase deficiency
Ataxia-deafness syndrome X-linked - See Spinocerebellar ataxia X-linked type 3
Ataxia-deafness-retardation syndrome - See Reardon Wilson Cavanagh syndrome
Ataxia-deafness-retardation syndrome with ketoaciduria - See Richards-Rundle syndrome
Ataxia-dementia syndrome X-linked - See Spinocerebellar ataxia X-linked type 4
Ataxia-hypogonadism-choroidal dystrophy syndrome - See Ataxia - hypogonadism - choroidal dystrophy
Ataxia-oculomotor apraxia 1 - See Ataxia with oculomotor apraxia type 1
Ataxia-oculomotor apraxia 3 - See Ataxia with oculomotor apraxia type 3
Ataxia-oculomotor apraxia type 1 - See Ataxia with oculomotor apraxia type 1
Ataxia-oculomotor apraxia type 2 - See Ataxia with Oculomotor Apraxia Type 2
Ataxia-oculomotor apraxia type 4 - See Ataxia with oculomotor apraxia type 4
Ataxia-oculomotor apraxia-4 - See Ataxia with oculomotor apraxia type 4
Ataxia-pancytopenia syndrome - See Myelocerebellar disorder
Ataxia-Telangiectasia variant V1 - See Nijmegen breakage syndrome
Ataxia-telangiectasia-like syndrome - See Ataxia with oculomotor apraxia type 1
Ataxic cerebral palsy - See Cerebral palsy ataxic
Ataxo-opso-myoclonus syndrome - See Opsoclonus-myoclonus syndrome
ATD - See Jeune syndrome
Atelosteogenesis II - See Atelosteogenesis type 2
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
ATFB - See Familial atrial fibrillation
Athabaskan Brainstem Dysgenesis - See Human HOXA1 Syndromes
Athabaskan Brainstem Dysgenesis Syndrome - See Human HOXA1 Syndromes
A-Thalassemia - See Alpha-thalassemia
Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease - See Feigenbaum Bergeron Richardson syndrome
Athetoid cerebral palsy - See Cerebral palsy athetoid
Athetosis
Atkin syndrome
Atkin-Flaitz syndrome - See Atkin syndrome
Atlantoaxial Fusion - See Atlanto-Axial Fusion
Atlanto-Axial Fusion
Atlantoaxial joint fusion - See Atlanto-Axial Fusion
ATLL - See Adult T-cell leukemia/lymphoma
ATN - See Oculocutaneous albinism type 1
ATR, nondeletion type - See Alpha-thalassemia x-linked intellectual disability syndrome
Atransferrinemia
Atresia of small intestine - See Jejunal atresia
Atresia of small intestine
Atrial fibrillation autosomal dominant - See Familial atrial fibrillation
Atrial fibrillation, familial - See Familial atrial fibrillation
Atrial myxoma, familial
Atrial septal defect coronary sinus
Atrial septal defect ostium primum
Atrial septal defect sinus venosus
Atrio digital syndrome - See Holt-Oram syndrome
Atriodigital dysplasia - See Holt-Oram syndrome
Atrio-ventricular and ventriculo-arterial double discordia - See Double discordia
Atrioventricular septal defect
Atrophia bulborum hereditaria - See Norrie disease
Atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles - See Palmoplantar keratoderma-sclerodactyly syndrome
Atrophic lichen planus
Atrophic LP - See Atrophic lichen planus
Atrophic papulosis, malignant - See Malignant Atrophic Papulosis
Atrophie blanche - See Muscular dystrophy white matter spongiosis
Atrophoderma of Pasini and Pierini
Atrophoderma vermiculata
Atrophoderma vermiculatum - See Atrophoderma vermiculata
Atrophodermia reticulata - See Atrophoderma vermiculata
Atrophodermia reticulata symmetrica faciei - See Atrophoderma vermiculata
Atrophodermia vermiculata - See Atrophoderma vermiculata
ATRX syndrome - See Alpha-thalassemia x-linked intellectual disability syndrome
ATS - See Arterial tortuosity syndrome
ATS-DL - See Leiomyomatosis, esophageal and vulval, with nephropathy
Attenuated adenomatous polyposis coli - See Attenuated familial adenomatous polyposis
Attenuated congenital adrenal hyperplasia - See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
Attenuated familial adenomatous polyposis
Attenuated familial polyposis coli - See Attenuated familial adenomatous polyposis
Attenuated FAP - See Attenuated familial adenomatous polyposis
Attenuated MPS (subtype; formerly known as mild MPS II) - See Mucopolysaccharidosis type II
Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) - See Mucopolysaccharidosis type I
Atypical childhood HUS - See Hemolytic uremic syndrome, atypical, childhood
Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease
Atypical hemolytic uremic syndrome
Atypical HUS - See Atypical hemolytic uremic syndrome
Atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality - See Alsing syndrome
Atypical mycobacterial infection, disseminated - See Atypical mycobacteriosis, familial
Atypical mycobacterial infection, familial disseminated - See Atypical mycobacteriosis, familial
Atypical mycobacteriosis, familial
Atypical neuroaxonal dystrophy - See Karak syndrome
Atypical osteomalacia involving the axial skeleton - See Axial osteomalacia
Atypical Philadelphia-negative chronic myeloid leukemia - See PDGFRB-associated chronic eosinophilic leukemia
Atypical progeroid syndrome - See Atypical Werner syndrome
Atypical PSP - See Progressive supranuclear palsy atypical
Atypical Rett syndrome
Atypical teratoid rhabdoid tumor - See Rhabdoid tumor
Atypical Werner syndrome
AU - See Alopecia universalis
Auditory dyssynchrony - See Auditory neuropathy spectrum disorder
Auditory dys-synchrony - See Auditory neuropathy spectrum disorder
Auditory neuropathy - See Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder
Aughton Sloan Milad syndrome - See Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
Aughton syndrome - See Dextrocardia with unusual facies and microphthalmia
Aur syndrome - See Sackey Sakati Aur syndrome
Aural cephalosyndactyly - See Auralcephalosyndactyly
Auralcephalosyndactyly
Auriculocondylar syndrome - See Auriculo-condylar syndrome
Auriculo-condylar syndrome
Auriculoosteodysplasia
Auriculo-osteodysplasia - See Auriculoosteodysplasia
Auriculotemporal nerve syndrome - See Frey's syndrome
Auriculoventricular accessory pathway syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
Ausems Wittebol-Post Hennekam syndrome
Autism spectrum disorder - not a rare disease
Autism with port-wine stain
Autism, dementia, ataxia, and loss of purposeful hand use - See Rett syndrome
Autoerythrocyte sensitization - See Gardner-Diamond syndrome
Autoerythrocyte sensitization purpura - See Gardner-Diamond syndrome
Autoerythrocyte sensitization syndrome - See Gardner-Diamond syndrome
Autoimmune atrophic gastritis - not a rare disease
Autoimmune autonomic ganglionopathy
Autoimmune Autonomic Neuropathy - See Autoimmune autonomic ganglionopathy
Autoimmune chronic hepatitis - See Autoimmune hepatitis
Autoimmune disease, syndromic multisystem - See ITCH E3 ubiquitin ligase deficiency
Autoimmune encephalitis
Autoimmune enteropathy
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - See Autosomal dominant candidiasis familial chronic mucocutaneous
Autoimmune gastrointestinal dysmotility
Autoimmune hemolytic anemia
Autoimmune hemolytic anemia and autoimmune thrombocytopenia - See Evans syndrome
Autoimmune hepatitis
Autoimmune hypophysitis - See Lymphocytic hypophysitis
Autoimmune Inner Ear disease
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome type 1, autosomal dominant - See Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome type 2B - See Caspase-8 deficiency
Autoimmune lymphoproliferative syndrome type 5 - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome without FAS mutations - See Dianzani autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome, type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune myocarditis
Autoimmune necrotizing myositis - See Necrotizing autoimmune myopathy
Autoimmune oophoritis
Autoimmune pancreatitis
Autoimmune polyendocrine syndrome type 1 - See Autoimmune polyglandular syndrome type 1
Autoimmune polyendocrine syndrome type 2 - See Autoimmune polyglandular syndrome type 2
Autoimmune polyendocrine syndrome type 3 - See Autoimmune polyglandular syndrome type 3
Autoimmune polyendocrinopathy syndrome type 1 - See Autoimmune polyglandular syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) - See Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 2
Autoimmune polyglandular syndrome type 3
Autoimmune polyglandular syndrome type I - See Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type II - See Autoimmune polyglandular syndrome type 2
Autoimmune polyglandular syndrome type III - See Autoimmune polyglandular syndrome type 3
autoimmune progesterone dermatitis - See Progestogen hypersensitivity
Autoimmune pulmonary alveolar proteinosis
Autoimmune retinopathy
Autoimmune thrombocytopenic purpura - See Idiopathic thrombocytopenic purpura
Autoimmune thyroiditis - See Hashimoto's syndrome - not a rare disease
Autoimmune vasculitis - See Vasculitis - not a rare disease
Autoimmunity-immunodeficiency syndrome x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
Autoinflammation, panniculitis, and dermatosis syndrome - See Otulipenia
Autosomal agammaglobulinemia - See Agammaglobulinemia, non-Bruton type
Autosomal dominant intellectual disability 29 - See SETBP1 disorder
Autosomal dominant acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
Autosomal dominant adult-onset demyelinating leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
Autosomal dominant Alport syndrome
Autosomal dominant atrial fibrillation - See Familial atrial fibrillation
Autosomal dominant axonal Charcot-Marie-Tooth disease - See Charcot-Marie-Tooth disease type 2
Autosomal dominant blepharophimosis with multiple congenital anomalies - See Krieble Bixler syndrome
Autosomal dominant brachyolmia - See Brachyolmia type 3
Autosomal dominant candidiasis familial chronic mucocutaneous
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia type 2 - See Spinocerebellar ataxia 7
Autosomal dominant cerebellar ataxia with mental retardation - See Spinocerebellar ataxia 13
Autosomal dominant cerebellar ataxia, deafness and narcolepsy - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease type 2
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2L - See Charcot-Marie-Tooth disease
Autosomal dominant Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease
Autosomal dominant Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease
Autosomal dominant Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant cutis laxa - See Cutis laxa, autosomal dominant
Autosomal dominant deafness-onychodystrophy syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant demyelinating Charcot-Marie-Tooth disease - See Charcot-Marie-Tooth disease type 1
Autosomal dominant diffuse Lewy body disease - See Lewy body dementia - not a rare disease
Autosomal dominant distal renal tubular acidosis
Autosomal dominant dyskeratosis congenita - See Dyskeratosis congenita autosomal dominant
Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types - See Dominant dystrophic epidermolysis bullosa
Autosomal dominant familial erythrocytosis-1 - See Primary familial and congenital polycythemia
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome - See Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Autosomal dominant focal dystonia, DYT25 type - See DYT-GNAL
Autosomal dominant form of benign neonatal seizures - See Convulsions benign familial neonatal dominant form
Autosomal dominant hereditary hemochromatosis - See Hemochromatosis type 4
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons - See Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant hidrotic ectodermal dysplasia - See Clouston syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant intellectual disability 1 - See MBD25–related intellectual disability
Autosomal dominant intellectual disability 20 - See 5q14.3 microdeletion syndrome
Autosomal dominant intellectual disability 25 - See Xia-Gibbs syndrome
Autosomal dominant intellectual disability 30
Autosomal dominant intellectual disability 40
Autosomal dominant intellectual disability 49
Autosomal dominant intellectual disability 5 - See SYNGAP1-related non-syndromic intellectual disability
Autosomal dominant intellectual disability-17 - See PACS1-related syndrome
Autosomal dominant intellectual disability-43 - See HIVEP2-related intellectual disability
Autosomal dominant intellectual disability-6 - See GRIN2B related syndrome
Autosomal dominant intellectual disability-7 - See DYRK1A-Related Intellectual Disability Syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant Larsen syndrome - See Larsen syndrome
Autosomal dominant late-onset retinal degeneration - See Late-onset retinal degeneration
Autosomal dominant lateral temporal lobe epilepsy - See Autosomal dominant partial epilepsy with auditory features
Autosomal dominant leukodystrophy with autonomic disease
Autosomal dominant leukoencephalopathy with neuroaxonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
Autosomal dominant limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy
Autosomal dominant lower extremity-predominant spinal muscular atrophy-1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
Autosomal dominant medullary cystic kidney disease - See Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant medullary cystic kidney disease (former) - See Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant medullary cystic kidney disease type 2 - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal dominant medullary cystic kidney disease type 2 (former) - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal dominant methemoglobinemia - See Methemoglobinemia, beta-globin type
Autosomal dominant microcephaly - See Microcephaly autosomal dominant
Autosomal dominant multiple pterygium syndrome - See Distal arthrogryposis
Autosomal dominant nail dysplasia - See Twenty-nail dystrophy
Autosomal dominant neuronal ceroid lipofuscinosis 4B
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant nonnuclear polymorphic congenital cataract - See Cataract congenital dominant non nuclear
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly - See Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Autosomal dominant Opitz G/BBB syndrome - See 22q11.2 deletion syndrome
Autosomal dominant optic atrophy - See Dominant optic atrophy
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy type 3 - See Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy, classic form - See Optic atrophy 1
Autosomal dominant osteopetrosis type 1 - See Osteopetrosis autosomal dominant type 1
Autosomal dominant osteopetrosis type 2 - See Osteopetrosis autosomal dominant type 2
Autosomal dominant osteosclerosis, Worth type - See Worth type autosomal dominant osteosclerosis
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant Parkinson disease - See Parkinson disease type 3
Autosomal dominant partial epilepsy with auditory features
Autosomal dominant polycystic kidney disease - See Polycystic kidney disease - not a rare disease
Autosomal dominant polycystic kidney disease - not a rare disease
Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias - See Preaxial deficiency, postaxial polydactyly and hypospadias
Autosomal dominant primary hypomagnesemia with hypocalciuria - See Renal hypomagnesemia 2
Autosomal dominant primary microcephaly - See Microcephaly autosomal dominant
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy - See Retinal vasculopathy with cerebral leukodystrophy with systemic manifestations
Autosomal dominant retinoschisis - See Retinoschisis autosomal dominant
Autosomal dominant severe congenital neutropenia - See Severe congenital neutropenia autosomal dominant
Autosomal dominant SLC4A1-associated distal renal tubular acidosis - See Autosomal dominant distal renal tubular acidosis
Autosomal dominant sleep-related hypermotor epilepsy - See Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant spastic paraparesis - See Spastic paraplegia 9
Autosomal dominant spastic paraplegia - See Spastic paraplegia 10
Autosomal dominant spastic paraplegia 4 - See Spastic paraplegia 4
Autosomal dominant spastic paraplegia type 17 - See Spastic paraplegia 17
Autosomal dominant spheroid body myopathy - See Spheroid body myopathy
Autosomal dominant spinal muscular atrophy with lower extremity predominance - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
Autosomal dominant spondyloepiphyseal dysplasia tarda
Autosomal dominant thoracolaryngopelvic dysplasia - See Thoracolaryngopelvic dysplasia
Autosomal dominant torsion dystonia-4 - See DYT-TUBB4A
Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
Autosomal dominant tubulointerstitial kidney disease due to REN mutations
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal dominant tubulointerstitial kidney disease, MUC1-associated - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
Autosomal dominant tubulointerstitial kidney disease, REN-related - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal dominant type B hypercholesterolemia - not a rare disease
Autosomal dominant vitreoretinochoroidopathy
Autosomal erythropoietic protoporphyria
Autosomal recessive adducted thumb-club foot syndrome - See Musculocontractural Ehlers-Danlos syndrome
Autosomal recessive Alport syndrome
Autosomal recessive ataxia Beauce type - See Spinocerebellar ataxia autosomal recessive 8
Autosomal recessive ataxia due to coenzyme Q10 deficiency - See Autosomal recessive spinocerebellar ataxia 9
Autosomal recessive ataxia due to ubiquinone deficiency - See Autosomal recessive spinocerebellar ataxia 9
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive axonal CMT4C2 - See Charcot-Marie-Tooth disease
Autosomal recessive axonal CMT4C4 - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive bestrophinopathy
Autosomal recessive candidiasis familial chronic mucocutaneous
Autosomal recessive centronuclear myopathy
Autosomal recessive cerebellar ataxia - blindness - deafness - See Spinocerebellar ataxia autosomal recessive 3
Autosomal recessive cerebellar ataxia type 2 - See Autosomal recessive spinocerebellar ataxia 9
Autosomal recessive cerebellar ataxia-blindness-deafness syndrome - See Spinocerebellar ataxia autosomal recessive 3
Autosomal recessive cerebelloparenchymal disorder type 3 - See Cerebelloparenchymal disorder 3
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia - See Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive congenital hypomyelinating neuropathy - See Charcot-Marie-Tooth disease
Autosomal recessive deafness-onychodystrophy syndrome - See DOOR syndrome
Autosomal recessive demyelinating Charcot-Marie-Tooth - See Charcot-Marie-Tooth disease type 4
Autosomal recessive distal osteolysis syndrome
Autosomal recessive distal renal tubular acidosis
Autosomal recessive distal renal tubular acidosis with deafness - See Renal tubular acidosis with deafness
Autosomal recessive distal renal tubular acidosis with hearing loss - See Renal tubular acidosis with deafness
Autosomal recessive distal RTA - See Autosomal recessive distal renal tubular acidosis
Autosomal recessive dyskeratosis congenita - See Dyskeratosis congenita autosomal recessive
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - See Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis - See Recessive dystrophic epidermolysis bullosa-generalized other
Autosomal recessive dystrophic epidermolysis bullosa, generalized other - See Recessive dystrophic epidermolysis bullosa-generalized other
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - See Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) - See Severe generalized recessive dystrophic epidermolysis bullosa
Autosomal recessive early-onset IBD - See Autosomal recessive early-onset inflammatory bowel disease
Autosomal recessive early-onset inflammatory bowel disease
Autosomal recessive early-onset inflammatory bowel disease - See Autosomal recessive early-onset inflammatory bowel disease
Autosomal recessive ectodermal dysplasia - See Bustos Simosa Pinto Cisternas syndrome
Autosomal recessive familial adenomatous polyposis - See MYH-associated polyposis
Autosomal recessive form of cleidocranial dysostosis - See Cleidocranial dysplasia recessive form
Autosomal recessive frontotemporal pachygyria - See Pachygyria, frontotemporal
Autosomal recessive hereditary thrombophilia due to protein C deficiency - See Autosomal recessive protein C deficiency
Autosomal recessive hyper IgE syndrome
Autosomal recessive ichthyosis with hypotrichosis - See Ichthyosis with hypotrichosis, autosomal recessive
Autosomal recessive intellectual disability 58
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - See Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive isolated ectopia lentis - See Ectopia lentis, isolated autosomal recessive
Autosomal recessive juvenile Parkinson disease
Autosomal recessive lethal chondrodystrophy with congenital hydrops - See Greenberg dysplasia
Autosomal recessive LGMD type 2M - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2C - See Limb-girdle muscular dystrophy, type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2I - See Limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A
Autosomal recessive limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy
Autosomal recessive Melnick-Needles syndrome (formerly) - See Frank Ter Haar syndrome
Autosomal recessive methemoglobinemia - See Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia - See NADH cytochrome B5 reductase deficiency
Autosomal recessive multiple colorectal adenomas - See MYH-associated polyposis
Autosomal recessive multiple epiphyseal dysplasia - See Multiple epiphyseal dysplasia 4
Autosomal recessive multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis
Autosomal recessive non-lethal multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
Autosomal recessive nonsyndromic congenital nail disorder-4 - See Anonychia congenita
Autosomal recessive nonsyndromic congenital nuclear cataract
Autosomal recessive nonsyndromic mental retardation-18 - See MED23
Autosomal recessive Noonan syndrome - See Noonan syndrome
Autosomal recessive optic atrophy plus syndrome - See OPA3 defect
Autosomal recessive optic atrophy type 3 - See OPA3 defect
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia - See Osteopetrosis autosomal recessive 7
Autosomal recessive osteopetrosis type 1 - See Osteopetrosis autosomal recessive 1
Autosomal recessive osteopetrosis type 2 - See Osteopetrosis autosomal recessive 2
Autosomal recessive osteopetrosis type 3 - See Osteopetrosis autosomal recessive 3
Autosomal recessive osteopetrosis type 4 - See Osteopetrosis autosomal recessive 4
Autosomal recessive osteopetrosis type 5 - See Osteopetrosis autosomal recessive 5
Autosomal recessive osteopetrosis type 6 - See Osteopetrosis autosomal recessive 6
Autosomal recessive osteopetrosis type 7 - See Osteopetrosis autosomal recessive 7
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive Parkinson disease 9 - See Parkinson disease type 9
Autosomal recessive polycystic kidney disease
Autosomal recessive primary microcephaly
Autosomal recessive progressive external ophthalmoplegia - See Progressive external ophthalmoplegia, autosomal recessive 1
Autosomal recessive protein C deficiency
Autosomal recessive pseudohypoaldosteronism type 1
Autosomal recessive sensorineural hearing impairment and goiter - See Pendred syndrome
Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia - See Deafness oligodontia syndrome
Autosomal recessive spastic ataxia - optic atrophy - dysarthria - See Autosomal recessive spastic ataxia 4
Autosomal recessive spastic ataxia 4
Autosomal recessive spastic ataxia of Charlevoix-Saguenay - See Spastic ataxia Charlevoix-Saguenay type
Autosomal recessive spastic ataxia type 4 - See Autosomal recessive spastic ataxia 4
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - See Autosomal recessive spastic ataxia 4
Autosomal recessive spastic paraplegia - See Spastic paraplegia 5A
Autosomal recessive spastic paraplegia 51 - See Spastic paraplegia 51
Autosomal recessive spastic paraplegia type 11 - See Spastic paraplegia 11
Autosomal recessive spastic paraplegia type 20 - See Troyer syndrome
Autosomal recessive spastic paraplegia type 23 - See Spastic paraplegia 23
Autosomal recessive spastic paraplegia type 32 - See Spastic paraplegia 32
Autosomal recessive spastic paraplegia type 49
Autosomal recessive spastic paraplegia-49 - See Autosomal recessive spastic paraplegia type 49
autosomal recessive spinocerebellar ataxia 8 - See Spinocerebellar ataxia autosomal recessive 8
Autosomal recessive spinocerebellar ataxia 9
Autosomal recessive spinocerebellar ataxia type 3 - See Spinocerebellar ataxia autosomal recessive 3
Autosomal recessive spinocerebellar ataxia type 9 - See Autosomal recessive spinocerebellar ataxia 9
Autosomal recessive spinocerebellar ataxia-1 - See Ataxia with Oculomotor Apraxia Type 2
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - See Spinocerebellar ataxia autosomal recessive 3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome - See Spinocerebellar ataxia autosomal recessive 3
Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes - See Irons Bhan syndrome
Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia - See Dermatoosteolysis Kirghizian type
Autosomal recessive thrombophilia due to congenital protein C deficiency - See Autosomal recessive protein C deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency - See Protein C deficiency - not a rare disease
Autosomal recessive thrombophilia due to PC deficiency - See Autosomal recessive protein C deficiency
Autosomal recessive thrombophilia due to PC deficiency - See Protein C deficiency - not a rare disease
Autossomal dominant café-au-lait spots - See Multiple café-au-lait spots
AUTS14B - See 16p11.2 duplication
Avascular necrosis of the metacarpal head - See Dieterich's disease
AVED - See Ataxia with vitamin E deficiency
Avellino corneal dystrophy - See Corneal dystrophy Avellino type
AVMD - See Adult-onset vitelliform macular dystrophy
Axenfeld-Rieger syndrome
Axial mesodermal dysplasia spectrum
Axial osteomalacia
Axial osteosclerosis - See Osteomesopyknosis
Axial SMD - See Axial spondylometaphyseal dysplasia
Axial spondylometaphyseal dysplasia
Axonal Charcot-Marie-Tooth disease with pyramidal involvement - See Charcot-Marie-Tooth disease
Axonal neuropathy with palmoplantar keratoderma - See Keratoderma palmoplantar spastic paralysis
AXPC1 - See Posterior column ataxia with retinitis pigmentosa
Ayazi syndrome
AZOOR - See Acute zonal occult outer retinopathy
Azoospermia obstructive and chronic sinopulmonary infections - See Young syndrome
Azoospermia-sinopulmonary infections syndrome - See Young syndrome
Azorean neurologic disease - See Spinocerebellar ataxia 3
Azul - See Pinta