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"

8 matching diseasesClear search ×

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

ORPHA:48

Congenital unilateral hypoplasia of depressor anguli oris

Isolated asymmetric crying facies

ORPHA:1166

Congenital vertical talus, bilateral

ORPHA:295203

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

ORPHA:79133

OBSOLETE: Acheiria, bilateral

OBSOLETE: Congenital absence of hand, bilateral

ORPHA:295103

OBSOLETE: Adactyly of foot, bilateral

OBSOLETE: Congenital absence of toes, bilateral

ORPHA:295118

OBSOLETE: Apodia, bilateral

OBSOLETE: Congenital absence of foot, bilateral

ORPHA:295107

OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral

OBSOLETE: Thumb hypodactyly, bilateral · OBSOLETE: Thumb oligodactyly, bilateral

ORPHA:295112