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"

6 matching diseasesClear search ×

Hypotrichosis-intellectual disability, Lopes type

Lopes-Marques de Faria syndrome

ORPHA:2266

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

ORPHA:1916

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

MARCH syndrome

ORPHA:500135

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

ORPHA:2717

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

ORPHA:2832