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Metadata
ID DOID:0060763
Name X-linked juvenile retinoschisis 1
Definition A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.
https://www.ncbi.nlm.nih.gov/pubmed/17172462, https://www.ncbi.nlm.nih.gov/pubmed/9326935
Xrefs

ICD10CM:Q14.1

OMIM:312700

ORDO:792

Subsets

DO_rare_slim

Synonyms

X-linked juvenile retinoschisis [EXACT]

X-linked retinoschisis [EXACT]

XLRS [EXACT]

Parent Relationships

is_a retinoschisis

is_a X-linked recessive disease

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