Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10,912 rare diseases

Acrofacial dysostosis, Palagonia type

ORPHA:1787

Acrofacial dysostosis, Rodríguez type

ORPHA:1788

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

ORPHA:952

Acrofrontofacionasal dysostosis

Richieri-Costa-Colletto syndrome

ORPHA:1784

Acrogeria

Acrogeria, Gottron type · Acrometageria

ORPHA:2500

Acrokeratoderma

ORPHA:79356

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Acrokeratosis verruciformis of Hopf

AKV of Hopf

ORPHA:79151

Acromegaloid facial appearance syndrome

ORPHA:965

Acromegaly

ORPHA:963

Acromegaly-cutis verticis gyrata-corneal leukoma syndrome

ORPHA:964

Acromelanosis

ORPHA:39

Acromelic dysplasia

ORPHA:93436

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

ORPHA:1827

Acromesomelic dysplasia

ORPHA:93437

Acromesomelic dysplasia, Grebe type

Chondrodysplasia, Grebe type

ORPHA:2098

Acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic dwarfism

ORPHA:968

Acromesomelic dysplasia, Maroteaux type

ORPHA:40

Acromicric dysplasia

ORPHA:969

Acroosteolysis-keloid-like lesions-premature aging syndrome

Premature aging syndrome, Penttinen type

ORPHA:363665

Acrootoocular syndrome

Pseudopapilledema-blepharophimosis-hand anomalies syndrome

ORPHA:2980

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

ORPHA:85203

Acropectororenal dysplasia

ORPHA:956

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Acrorenal syndrome

ORPHA:971

ACTH-dependent Cushing syndrome

ACTH-dependent CS · Adrenocorticotropic hormone-dependent Cushing syndrome

ORPHA:99892

Actinic lichen planus

Actinic LP · Lichen planus actinus

ORPHA:254395

Actinic prurigo

Familial polymorphous light eruption of American Indians · Hereditary polymorphous light eruption of American Indians

ORPHA:330061

Actinomycosis

ORPHA:457095

Actinomyopathy-associated syndromic thrombocytopenia

ACTB-AST

ORPHA:674653

Action myoclonus-renal failure syndrome

AMRF · Progressive myoclonus epilepsy type 4

ORPHA:163696

Activated PI3K-delta syndrome

PASLI · APDS

ORPHA:397596

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

ORPHA:693661

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

ORPHA:693681

Acute ackee fruit intoxication

Acute intoxication by Blighia sapida · Jamaican vomiting sickness

ORPHA:73423

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

ORPHA:95409

Acute and subacute inflammatory demyelinating polyneuropathy

Acute and subacute inflammatory demyelinating polyradiculoneuropathy

ORPHA:207038

Acute annular outer retinopathy

AAOR

ORPHA:284460

Acute basophilic leukemia

ORPHA:86849

Acute bilirubin encephalopathy

ABE · Acute kernicterus

ORPHA:529799

Acute biphenotypic leukemia

ORPHA:98837

Acute disseminated encephalomyelitis

ADEM · Acute disseminated encephalitis

ORPHA:83597

Acute disseminated encephalomyelitis with anti-MOG antibodies

ADEM with anti-MOG antibodies · Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies

ORPHA:592894

Acute disseminated encephalomyelitis without anti-MOG antibodies

Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies

ORPHA:592900

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

ORPHA:363549

Acute encephalopathy with inflammation-mediated status epilepticus

ORPHA:363567

Acute endophthalmitis

ORPHA:279888

Acute erythroid leukemia

AML M6 · Acute myeloid leukemia M6

ORPHA:318