Ocrl inositol polyphosphate-5-phosphatase

Preferred Label : Ocrl inositol polyphosphate-5-phosphatase;

Symbol : OCRL;

CISMeF acronym : OCRL;

Type : Gene;

Alternative titles and symbols : Ocrl gene; OCRL1;

Ensembl ID : ENSG00000122126;

Prefixed ID : *300535;

Details

Origin ID

300535;

UMLS CUI

C1417931;

Automatic exact mappings (from CISMeF team)
- Oculocerebrorenal syndrome [ICD-11 Subcategory]
- Oculocerebrorenal syndrome of Lowe [ORDO Disease]
Currated CISMeF NLP mapping
- OCRL inositol polyphosphate-5-phosphatase [ORDO Gene]
- OCRL inositol polyphosphate-5-phosphatase [HGNC gene]
- OCRL1 [LOINC component]
HGNC gene
- OCRL inositol polyphosphate-5-phosphatase [HGNC gene]
NCIt concept(s)
- Inositol Polyphosphate 5-Phosphatase OCRL [NCIt concept]
- OCRL Gene [NCIt concept]
- OCRL wt Allele [NCIt concept]
ORDO concept(s)
- OCRL inositol polyphosphate-5-phosphatase [ORDO Gene]
Phenotypes related
- 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]
- OCRL inositol polyphosphate-5-phosphatase [HGNC gene]
- OCRL1 [LOINC component]

Keyword's position in hierarchy(ies) :

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