Details of Disease

General Information of Disease (ID: DISENLGC)

Disease Name Foveal hypoplasia
Synonyms FVH
Definition Underdevelopment of the fovea centralis.
Disease Hierarchy
DISYKSRF: Genetic disease
DISENLGC: Foveal hypoplasia
Disease Identifiers
MONDO ID
MONDO_0044203
UMLS CUI
C2673946
MedGen ID
393047
HPO ID
HP:0007750

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AHR TT037IE Limited Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AHR OTFE4EYE Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.