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"

7 matching diseasesClear search ×

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

ORPHA:178364

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

ORPHA:77298

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

ORPHA:139471

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

ORPHA:2556

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

ORPHA:85275

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

ORPHA:77299

MMEP syndrome

MCOPS8 · Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome

ORPHA:3434