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 ×

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

ORPHA:424099

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

ORPHA:98938

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

ORPHA:2542

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

ORPHA:98555

Primary bone dysplasia with micromelia

Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia

ORPHA:364536

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

ORPHA:202948