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Metadata
ID DOID:0111809
Name syndromic microphthalmia 2
Definition A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4.
https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15004558, https://www.ncbi.nlm.nih.gov/pubmed/8723122
Xrefs

GARD:4628

MESH:C537465

OMIM:300166

ORDO:2712

SNOMEDCT_US_2020_09_01:699300009

UMLS_CUI:C1846265

Synonyms

ANOP2 [EXACT]

cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome [EXACT]

MAA2 [EXACT]

MCOPS2 [EXACT]

microphthalmia cataracts radiculomegaly and septal heart defects [EXACT]

oculofaciocardiodental syndrome [EXACT]

OFCD syndrome [EXACT]

syndromic microphthalmia type 2 [EXACT]

Parent Relationships

is_a syndromic microphthalmia

is_a X-linked dominant disease

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