Find a rare disease
Data via OrphadataThis is a working prototype built by Danny Englander, 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. If you'd like to learn more about how this site was built and why, see the About page.
- 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.
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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