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"

17 matching diseasesClear search ×

Microphthalmia, Lenz type

Lenz microphthalmia

ORPHA:568

Anophthalmia plus syndrome

Fryns microphthalmia syndrome · Microphthalmia with facial clefting

ORPHA:1104

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

ORPHA:77298

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

ORPHA:98938

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

ORPHA:2250

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 with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

ORPHA:2556

Microphthalmia-ankyloblepharon-intellectual disability syndrome

MCOPS4 · Syndromic microphthalmia type 4

ORPHA:85275

Microphthalmia-anophthalmia-coloboma

Anophthalmia-microphthalmia syndrome

ORPHA:98555

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

ORPHA:77299

MMEP syndrome

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

ORPHA:3434

Nanophthalmos

Nanophthalmia

ORPHA:35612

Syndromic microphthalmia type 5

MCOPS5 · Syndromic microphthalmia/anophthalmia due to OTX2 mutation

ORPHA:178364

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic microphthalmia

ORPHA:202948

Unilateral ocular duplication

Unilateral diplophthalmia · Unilateral diplophthalmos

ORPHA:3374