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

Absent radius-anogenital anomalies syndrome

ORPHA:3016

Adrenogenital syndrome

ORPHA:181412

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

ORPHA:2229

Hand-foot-genital syndrome

HFGS · Hand-foot-uterus syndrome

ORPHA:2438

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

ORPHA:2163

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

ORPHA:1046

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

ORPHA:97360

Sacral hemangiomas-multiple congenital abnormalities syndrome

ORPHA:2125

X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with ambiguous genitalia · X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome

ORPHA:452

X-linked myotubular myopathy-abnormal genitalia syndrome

Xq28 contiguous gene deletion syndrome

ORPHA:456328