Retinoschisis 1, X-linked, juvenile

Preferred Label : Retinoschisis 1, X-linked, juvenile;

Symbol : RS1;

CISMeF acronym : RS; RS1; XLRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XLRS1; RS;

Description : X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see 180270) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by Sikkink et al., 2007).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the retinoschisin gene (RS1, 300839.0001);

Prefixed ID : #312700;

Détails

Origin ID

312700;

UMLS CUI

C3714753;

Automatic exact mappings (from CISMeF team)
- Disease Response Domain [NCIt concept]
- GRB10 wt Allele [NCIt concept]
- Lower case Roman letter r (qualifier value) [SNOMED CT concept]
- PITX2 wt Allele [NCIt concept]
- RESPIRATORY SYSTEM DISORDERS [WHO-ART Class]
- RS1 Gene [NCIt concept]
- RS1 gene [LOINC component]
- RSS [MeSH concept]
- Rabbi [NCIt concept]
- Really Simple Syndication [NCIt concept]
- Resistant Starch [NCIt concept]
- Respiratory system [LOINC System]
- Respiratory system [FMA entity]
- Roentgen [NCIt concept]
- Russ Chinese [NCIt concept]
- Serbia [NCIt concept]
- Squamous intraepithelial lesion (morphologic abnormality) [SNOMED CT concept]
- Supernumerary Circular Chromosome [NCIt concept]
- Tumor staging descriptor r (tumor staging) [SNOMED CT concept]
- Upper case Roman letter R (qualifier value) [SNOMED CT concept]
- paired like homeodomain 2 [ORDO Gene]
- regulator of solute carriers 1 [HGNC gene]
- respiratory system [ATC Code]
- respiratory system [MeSH Descriptor]
- respiratory system [MeSH concept]
- respiratory system, nos [SNOMED Notion]
- retinoschisin 1 [HGNC gene]
- retinoschisis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Juvenile X-Linked Retinoschisis [NCIt concept]
- Juvenile retinoschisis [PASCAL descriptor]
- Juvenile retinoschisis (disorder) [SNOMED CT concept]
- X-linked juvenile retinoschisis 1 [DO Concept]
- X-linked retinoschisis [ORDO Disease]
- juvenile retinoschisis [Disease (Nov.)]
- juvenile retinoschisis [SNOMED Notion]
- retinoschisin 1 [ORDO Gene]
- retinoschisis, juvenile, X-Linked [MeSH concept]
DO Cross reference
- X-linked juvenile retinoschisis 1 [DO Concept]
False automatic mappings
- Russian Federation [NCIt concept]
Genes related to phenotype
- Retinoschisin [OMIM gene]
HPO term(s)
- Electronegative electroretinogram [HPO term]
- Hypermetropia [HPO term]
- Macular atrophy [HPO term]
- Mizuo phenomenon [HPO term]
- Peripheral cystoid retinal degeneration [HPO term]
- Progressive visual loss [HPO term]
- Retinal atrophy [HPO term]
- Retinal degeneration [HPO term]
- Retinal detachment [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Retinoschisis [HPO term]
- Vitreous hemorrhage [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked retinoschisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinoschisin 1 [ORDO Gene]

Position du mot-clé dans l'(les) arborescence(s) :

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