Details of Disease | DrugMAP

General Information of Disease (ID: DIS629CF)

Disease Name	Goldmann-Favre syndrome
Synonyms	Favre hyaloideoretinal Degeneration; retinoschisis with early nyctalopia
Definition	A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
Disease Hierarchy	DISVPRKD: Vitreoretinal degeneration DIS629CF: Goldmann-Favre syndrome
Disease Identifiers	MONDO ID MONDO_0100289 MESH ID C564835 UMLS CUI C0339541 MedGen ID 87387 Orphanet ID 53540 SNOMED CT ID 232065000

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
NR2E3	OTO3GBHQ	Supportive	Autosomal recessive	[1]
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References

1	Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777.