nephrocystin 3

Preferred Label : nephrocystin 3;

Approved symbol HGNC : NPHP3;

Name synonyms HGNC : type 7; cilia and flagella associated protein 31; Meckel syndrome;

Alias symbols HGNC : FLJ36696; MKS7; NPH3; KIAA2000; FLJ30691; SLSN3; CFAP31;

Chromosome HGNC : 3q22.1;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000113971;

Détails

Origin ID

HGNC:7907;

UMLS CUI

C1417783;

Automatic exact mappings (from CISMeF team)
- Bristol Stool Type 7 [NCIt concept]
- 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 7 [OMIM Phenotype]
- Meckel-Gruber syndrome [ICD-11 Sub-sub category]
- Nephrocystin 3 [OMIM gene]
- Nephronophthisis 3 [OMIM Phenotype]
- Senior-loken syndrome 3 [OMIM Phenotype]
- meckel syndrome type 1 [MeSH Supplementary Concept]
- nephrocystin 3 [ORDO Gene]
OMIM gene
- Nephrocystin 3 [OMIM gene]
Orphanet gene
- nephrocystin 3 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrocystin 3 [OMIM gene]

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