RPGRIP1 like - CISMeF

Preferred Label : RPGRIP1 like;

Approved symbol HGNC : RPGRIP1L;

Name synonyms HGNC : type 5; Meckel syndrome; protein phosphatase 1; fantom homolog; regulatory subunit 134;

Alias symbols HGNC : JBTS7; CORS3; MKS5; KIAA1005; PPP1R134; NPHP8; FTM;

Chromosome HGNC : 16q12.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000103494;

Details

Origin ID

HGNC:29168;

UMLS CUI

C2242767;

Automatic exact mappings (from CISMeF team)
- Bristol Stool Type 5 [NCIt concept]
- Joubert syndrome 7 [OMIM Phenotype]
- Meckel syndrome [PASCAL descriptor]
- Meckel syndrome [ORDO Disease]
- Meckel syndrome [DO Concept]
- Meckel syndrome [OMIM phenotypic series]
- Meckel syndrome, type 1 [OMIM Phenotype]
- Meckel syndrome, type 5 [OMIM Phenotype]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
- RPGRIP1 like [ORDO Gene]
- Rpgrip1-like [OMIM gene]
- Type 5 (qualifier value) [SNOMED CT concept]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- protein phosphatase 1 [MeSH concept]
- protein phosphatase 1 [MeSH Descriptor]
OMIM gene
- Rpgrip1-like [OMIM gene]
Orphanet gene
- RPGRIP1 like [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Rpgrip1-like [OMIM gene]

Keyword's position in hierarchy(ies) :

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