X-linked retinoschisis
X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration
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X-linked retinoschisis
Summary
X-linked retinoschisis is a developmental defect during embryogenesis[1].
Key Facts
- X-linked retinoschisis's instance of is recorded as developmental defect during embryogenesis[2].
- X-linked retinoschisis's instance of is recorded as rare disease[3].
- X-linked retinoschisis's instance of is recorded as class of disease[4].
- X-linked retinoschisis's subclass of is recorded as retinoschisis[5].
- X-linked retinoschisis's subclass of is recorded as vitreoretinal degeneration[6].
- X-linked retinoschisis's subclass of is recorded as unclassified primitive or secondary maculopathy[7].
- X-linked retinoschisis's subclass of is recorded as non-syndromic developmental defect of the eye[8].
- X-linked retinoschisis's subclass of is recorded as X-linked recessive disease[9].
- X-linked retinoschisis's OMIM ID is recorded as 312700[10].
- X-linked retinoschisis's ICD-10 ID is recorded as Q14.1[11].
- X-linked retinoschisis's KEGG ID is recorded as H01766[12].
- X-linked retinoschisis's Disease Ontology ID is recorded as DOID:0060763[13].
- X-linked retinoschisis's Orphanet ID is recorded as 792[14].
- X-linked retinoschisis's NCI Thesaurus ID is recorded as C75483[15].
- X-linked retinoschisis's health specialty is recorded as medical genetics[16].
- X-linked retinoschisis's genetic association is recorded as RS1[17].
- X-linked retinoschisis's Google Knowledge Graph ID is recorded as /g/11qqyp0ggs[18].
- X-linked retinoschisis's exact match is recorded as http://identifiers.org/doid/DOID:0060763[19].
- X-linked retinoschisis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060763[20].
- X-linked retinoschisis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_792[21].
- X-linked retinoschisis's UMLS CUI is recorded as C3714753[22].
- X-linked retinoschisis's UMLS CUI is recorded as C0271091[23].
- X-linked retinoschisis's Medical Dictionary for Regulatory Activities ID is recorded as 10038821[24].
- X-linked retinoschisis's ICD-10-CM is recorded as Q14.1[25].
- X-linked retinoschisis's GARD rare disease ID is recorded as 4690[26].