Find a rare disease
Data via OrphadataThis is a working prototype of the search interface, not a comprehensive database — it currently covers a sample of 920 of Orphadata's 10,101 catalogued rare diseases. Not finding something here doesn't mean it isn't real or rare.
- As you type, results filter instantly — matching against each disease's name, synonyms, and symptoms.
- Open Filters to fine-tune by body system, inheritance pattern, age of onset, or rarity. Filters combine with your search text and with each other.
- Active filters show up as removable chips above the results — click a chip's × to drop just that one.
- Clear all resets both the search box and every filter at once.
- Results load 20 at a time — use Show more to keep going.
Search by name, synonym, or symptom. Filter by body system or inheritance pattern.
920 results
- 17q11 microdeletion syndrome
ORPHA:97685 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:97685Skin diseasesNot applicable
- 2p21 microdeletion syndrome
ORPHA:163693 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
ORPHA:163693Inborn errors of metabolismAutosomal recessive
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
ORPHA:445038 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:445038Immunological diseasesAutosomal recessive
- 6-pyruvoyl-tetrahydropterin synthase deficiency
ORPHA:13 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
ORPHA:13Inborn errors of metabolismAutosomal recessive
- 7q31 microdeletion syndrome
ORPHA:251061 is classified under "Neurological diseases" in the Orphanet nomenclature.
ORPHA:251061Neurological diseasesNot applicable, Unknown
- Acatalasemia
ORPHA:926 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
ORPHA:926Inborn errors of metabolismAutosomal recessive
- Acquired angioedema
ORPHA:91385 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:91385Immunological diseasesNot applicable
- Acquired angioedema type 1
ORPHA:100056 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:100056Immunological diseasesNot applicable
- Acquired angioedema type 2
ORPHA:100055 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:100055Immunological diseasesNot applicable
- Acquired angioedema with C1Inh deficiency
ORPHA:528663 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:528663Immunological diseasesNot applicable
- Acquired generalized lipodystrophy
ORPHA:79086 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:79086Skin diseasesNot applicable
- Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
ORPHA:158057 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:158057Immunological diseasesNot documented in Orphadata
- Acquired ichthyosis
ORPHA:454 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:454Skin diseasesNot applicable
- Acquired kinky hair syndrome
ORPHA:37559 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:37559Skin diseasesNot documented in Orphadata
- Acquired partial lipodystrophy
ORPHA:79087 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:79087Skin diseasesMultigenic/multifactorial, Not applicable
- Acral peeling skin syndrome
ORPHA:263534 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:263534Skin diseasesAutosomal recessive
- Acrocallosal syndrome
ORPHA:36 is classified under "Bone diseases" in the Orphanet nomenclature.
ORPHA:36Bone diseasesAutosomal recessive
- Acrogeria
ORPHA:2500 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:2500Skin diseasesUnknown
- Actinomyopathy-associated syndromic thrombocytopenia
ORPHA:674653 is classified under "Immunological diseases" in the Orphanet nomenclature.
ORPHA:674653Immunological diseasesAutosomal dominant
- Acute generalized exanthematous pustulosis
ORPHA:293173 is classified under "Skin diseases" in the Orphanet nomenclature.
ORPHA:293173Skin diseasesMultigenic/multifactorial, Not applicable