Details of Disease | DrugMAP

General Information of Disease (ID: DISFXRK4)

Disease Name	Colobomatous macrophthalmia-microcornea syndrome
Synonyms	MACOM; macrophthalmia, colobomatous, with microcornea; MACOM syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISQ1B1S: Disorder of visual system DISFXRK4: Colobomatous macrophthalmia-microcornea syndrome
Disease Identifiers	MONDO ID MONDO_0011239 UMLS CUI C1865286 OMIM ID 602499 MedGen ID 400728 Orphanet ID 468672 SNOMED CT ID 1179296003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRIM1	OTTZNV6Y	Supportive	Autosomal dominant	[1]
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References

1	CRIM1 haploinsufficiency causes defects in eye development in human and mouse. Hum Mol Genet. 2015 Apr 15;24(8):2267-73. doi: 10.1093/hmg/ddu744. Epub 2015 Jan 5.