Nephronophthisis 20

Preferred Label : Nephronophthisis 20;

Symbol : NPHP20;

CISMeF acronym : NPHP20;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitogen-activated protein kinase-binding protein 1 gene (MAPKBP1, 616786.0001);

Prefixed ID : #617271;

Details

Origin ID

617271;

UMLS CUI

C4310640;

Automatic exact mappings (from CISMeF team)
- mitogen-activated protein kinase binding protein 1 [ORDO Gene]
- mitogen-activated protein kinase binding protein 1 [HGNC gene]
CISMeF manual mappings
- nephronophthisis 20 [DO Concept]
DO Cross reference
- nephronophthisis 20 [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase-binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nephronophthisis [HPO term]
- Progressive [HPO term]
- Renal cyst [HPO term]
- Renal insufficiency [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Late-onset nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
See also inter- (CISMeF)
- MAPKBP1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 20 [DO Concept]

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