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Metadata
ID DOID:0111806
Name syndromic microphthalmia 5
Definition A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.
https://www.ncbi.nlm.nih.gov/pubmed/15846561
Xrefs

GARD:3692

MESH:C566441

OMIM:610125

ORDO:178364

SNOMEDCT_US_2023_03_01:718761007

UMLS_CUI:C1864690

Subsets

DO_rare_slim

Synonyms

MCOPS5 [EXACT]

syndromic microphthalmia type 5 [EXACT]

syndromic microphthalmia/anophthalmia due to OTX2 mutation [EXACT]

Parent Relationships

is_a syndromic microphthalmia

is_a autosomal dominant disease

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