PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Preferred Label : PKHD1 ciliary IPT domain containing fibrocystin/polyductin;

Approved symbol HGNC : PKHD1;

Name synonyms HGNC : polyductin; tigmin; fibrocystin/polyductin complex; fibrocystin;

Alias symbols HGNC : ARPKD; FCYT; FPC;

Chromosome HGNC : 6p12.3-p12.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000170927;

Details

Origin ID

HGNC:9016;

UMLS CUI

C1418605;

Automatic exact mappings (from CISMeF team)
- Fibrocystin [NCIt concept]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
NCIt concept
- PKHD1 Gene [NCIt concept]
OMIM gene
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]
Orphanet gene
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PKHD1 Gene [NCIt concept]
- PKHD1 gene [LOINC component]
- Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin [OMIM gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients