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"

11 matching diseasesClear search ×

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

ORPHA:2508

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

ORPHA:2311

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

ORPHA:65759

Carpenter-Waziri syndrome

ORPHA:93973

Choreoacanthocytosis

ChAc · Chorea-acanthocytosis

ORPHA:2388

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

ORPHA:2050

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome

ORPHA:514352

Hunter-Carpenter-McDonald syndrome

ORPHA:2174

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

ORPHA:477

Kleine-Levin syndrome

ORPHA:33543