OCRL inositol polyphosphate-5-phosphatase

Preferred Label : OCRL inositol polyphosphate-5-phosphatase;

Approved symbol HGNC : OCRL;

Name synonyms HGNC : Dent disease 2;

Alias symbols HGNC : Dent-2; OCRL1;

Chromosome HGNC : Xq26.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000122126;

Détails

Origin ID

HGNC:8108;

UMLS CUI

C1417931;

Automatic exact mappings (from CISMeF team)
- Dent disease [DO Concept]
- dent disease 2 [MeSH concept]
- dent disease 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- OCRL inositol polyphosphate-5-phosphatase [ORDO Gene]
- OCRL1 [LOINC component]
- Ocrl inositol polyphosphate-5-phosphatase [OMIM gene]
NCIt concept
- OCRL Gene [NCIt concept]
OMIM gene
- Ocrl inositol polyphosphate-5-phosphatase [OMIM gene]
Orphanet gene
- OCRL inositol polyphosphate-5-phosphatase [ORDO Gene]
See also inter- (CISMeF)
- Dent disease 2 [OMIM Phenotype]
- Lowe oculocerebrorenal syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- OCRL Gene [NCIt concept]
- OCRL1 [LOINC component]
- Ocrl inositol polyphosphate-5-phosphatase [OMIM gene]

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

Vous pouvez consulter :

recommendations
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documents for patients