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"

10,911 rare diseases

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

ORPHA:88643

Oblique facial cleft

Orbitofacial cleft

ORPHA:141253

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

ORPHA:422519

OBSOLETE: Abnormal eye movements

ORPHA:98691

OBSOLETE: Abnormal origin or aberrant course of coronary artery

ORPHA:95493

OBSOLETE: ACAN-related skeletal dysplasia

ORPHA:435808

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

OBSOLETE: Acheiria, unilateral

OBSOLETE: Congenital absence of hand, unilateral

ORPHA:295101

OBSOLETE: Acquired alimentary behavior disorder of infancy

ORPHA:138118

OBSOLETE: Acquired amyloid myopathy

ORPHA:207006

OBSOLETE: Acquired hemophilia

ORPHA:73274

OBSOLETE: Acquired metabolic neuropathy

ORPHA:206616

OBSOLETE: Acquired rod-body myopathy

ORPHA:207009

OBSOLETE: Acrocephalosyndactyly

OBSOLETE: Acrocephalosyndactylia

ORPHA:946

OBSOLETE: Acrodysostosis with multiple hormone resistance

ORPHA:280651

OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type

ORPHA:953

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

ORPHA:99893

OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia

ORPHA:189424

OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor

ORPHA:443287

OBSOLETE: Acute cutaneous lupus erythematosus

ORPHA:163528

OBSOLETE: Adactyly of foot

OBSOLETE: Congenital absence of toes

ORPHA:435623

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

ORPHA:295118

OBSOLETE: Adactyly of foot, unilateral

OBSOLETE: Congenital absence of toes, unilateral

ORPHA:295116

OBSOLETE: Adactyly of hand

OBSOLETE: Fingers absent

ORPHA:294931

OBSOLETE: Adenoid cystic carcinoma of the corpus uteri

OBSOLETE: Endometrial adenoid cystic carcinoma

ORPHA:213741

OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor

OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor

ORPHA:642013

OBSOLETE: Adult chronic recurrent multifocal osteomyelitis

OBSOLETE: Adult CRMO

ORPHA:93668

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

ORPHA:79262

OBSOLETE: Adult pulmonary Langerhans cell histiocytosis

OBSOLETE: Pulmonary histiocytosis X

ORPHA:99874

OBSOLETE: Adult-onset SAPHO syndrome

OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

ORPHA:324982

OBSOLETE: Aggrecan-related bone disorder

ORPHA:364817

OBSOLETE: Aleukemic mast cell leukemia

ORPHA:158799

OBSOLETE: Alpha-1-antichymotrypsin deficiency

ORPHA:93594

OBSOLETE: Amelia of lower limb, bilateral

ORPHA:295059

OBSOLETE: Amelia of lower limb, unilateral

ORPHA:295057

OBSOLETE: Amelia of upper limb, bilateral

ORPHA:295055

OBSOLETE: Amelia of upper limb, unilateral

ORPHA:295053

OBSOLETE: Amniotic bands

OBSOLETE: ADAM syndrome · OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome

ORPHA:1034

OBSOLETE: Anemia due to adenosine triphosphatase deficiency

ORPHA:1044

OBSOLETE: Aneurysm or dilatation of ascending aorta

ORPHA:95484

OBSOLETE: Angioosteohypertrophic syndrome

OBSOLETE: Klippel-Trénaunay-Weber syndrome

ORPHA:2346

OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh

OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor

ORPHA:537891

OBSOLETE: Aniridia

ORPHA:77

OBSOLETE: Anomaly of chromosome 1

ORPHA:261697

OBSOLETE: Anomaly of chromosome 10

ORPHA:261724

OBSOLETE: Anomaly of chromosome 11

ORPHA:261730

OBSOLETE: Anomaly of chromosome 12

ORPHA:261733

OBSOLETE: Anomaly of chromosome 13

ORPHA:261736