Details of Disease | DrugMAP

General Information of Disease (ID: DIS9XKHS)

Disease Name	Foveal hypoplasia-presenile cataract syndrome
Synonyms	O'Donnell-Pappas syndrome
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DIS9XKHS: Foveal hypoplasia-presenile cataract syndrome
Disease Identifiers	MONDO ID MONDO_0016395 MESH ID C537858 UMLS CUI C2931644 MedGen ID 419129 Orphanet ID 2253 SNOMED CT ID 778042000

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
PAX6	OTOC9876	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet. 1999 Feb;8(2):165-72. doi: 10.1093/hmg/8.2.165.