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

Acquired factor V deficiency

ORPHA:599490

Acquired factor VII deficiency

ORPHA:599495

Acquired factor X deficiency

aFX

ORPHA:599501

Acquired factor XI deficiency

aFXI

ORPHA:599507

Acquired factor XIII deficiency

aFXIII

ORPHA:599513

Acquired generalized lipodystrophy

Acquired lipoatrophic diabetes · Lawrence syndrome

ORPHA:79086

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

ORPHA:158057

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

ORPHA:599480

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

ORPHA:599485

Acquired hypertrichosis lanuginosa

ORPHA:2221

Acquired hypothalamic obesity

ORPHA:689401

Acquired ichthyosis

ORPHA:454

Acquired idiopathic sideroblastic anemia

AISA · Primary acquired sideroblastic anemia

ORPHA:75564

Acquired immunodeficiency

ORPHA:310050

Acquired kinky hair syndrome

ORPHA:37559

Acquired methemoglobinemia

Drug-induced methemoglobinemia

ORPHA:464453

Acquired monoclonal Ig light chain-associated Fanconi syndrome

Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome · Acquired Fanconi syndrome secondary to monoclonal gammopathy

ORPHA:91136

Acquired neutropenia

Immunologic neutropenia

ORPHA:178996

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

ORPHA:79087

Acquired peripheral movement disorder

ORPHA:221114

Acquired peripheral neuropathy

ORPHA:182086

Acquired pituitary hormone deficiency

ORPHA:95502

Acquired porencephaly

ORPHA:314697

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

ORPHA:26348

Acquired pseudoxanthoma elasticum

Acquired Gronblad-Strandberg-Touraine syndrome · Acquired PXE

ORPHA:228247

Acquired purpura fulminans

ORPHA:49566

Acquired schizencephaly

ORPHA:485275

Acquired secondary polycythemia

Acquired secondary erythrocytosis

ORPHA:238547

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

ORPHA:208984

Acquired skeletal muscle disease

ORPHA:206638

Acquired von Willebrand syndrome

Acquired von Willebrand disease

ORPHA:99147

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2

ORPHA:263534

Acral persistent papular mucinosis

ORPHA:90396

Acral self-healing collodion baby

Acral SHCB

ORPHA:281127

Acro-renal-mandibular syndrome

Split hand/split foot-mandibular hypoplasia syndrome

ORPHA:958

Acro-renal-ocular syndrome

ORPHA:959

Acrocallosal syndrome

ACS

ORPHA:36

Acrocapitofemoral dysplasia

ORPHA:63446

Acrocardiofacial syndrome

ACFS · CCGE syndrome

ORPHA:2008

Acrocephalopolydactyly

Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly

ORPHA:221054

Acrocraniofacial dysostosis

Kaplan-Plauchu-Fitch syndrome

ORPHA:949

Acrodermatitis continua of Hallopeau

ORPHA:163931

Acrodermatitis enteropathica

AEZ · Inherited zinc deficiency

ORPHA:37

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Acrodysplasia scoliosis

Prata-Liberal-Goncalves syndrome · Brachydactyly-scoliosis-carpal fusion syndrome

ORPHA:2956

Acrofacial dysostosis

ORPHA:364574

Acrofacial dysostosis, Catania type

Opitz-Caltabiano syndrome

ORPHA:1786

Acrofacial dysostosis, Kennedy-Teebi type

Kennedy-Teebi syndrome

ORPHA:64542