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 ×

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

ORPHA:98938

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

ORPHA:1104

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

ORPHA:468672

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

ORPHA:424099

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

ORPHA:1474

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

ORPHA:2542

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

ORPHA:139471

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

ORPHA:98555

Microphthalmia, Lenz type

Lenz microphthalmia

ORPHA:568

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

ORPHA:202948