Details of Disease | DrugMAP

General Information of Disease (ID: DISE3DJ5)

Disease Name	Glaucoma 3, primary congenital, D
Synonyms	GLC3D; glaucoma 3, primary congenital, type D; glaucoma 3, primary congenital, D
Disease Hierarchy	DISY7HN4: Primary congenital glaucoma DISYTG1Z: LTBP2-related ocular dysgenesis DISE3DJ5: Glaucoma 3, primary congenital, D
Disease Identifiers	MONDO ID MONDO_0013122 MESH ID C567765 UMLS CUI C2751316 OMIM ID 613086 MedGen ID 416524

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
LTBP2	OTS88GSD	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.