Nephronophthisis 13

Preferred Label : Nephronophthisis 13;

Symbol : NPHP13;

CISMeF acronym : NPHP13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein-19 gene (WDR19, 608151.0004);

Prefixed ID : #614377;

Details

Origin ID

614377;

UMLS CUI

C3280612;

Automatic exact mappings (from CISMeF team)
- Juvenile nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
- WD repeat domain 19 [ORDO Gene]
- WD repeat domain 19 [HGNC gene]
Currated CISMeF NLP mapping
- nephronophthisis 13 [DO Concept]
- nephronophthisis type 13 [Disease (Nov.)]
DO Cross reference
- nephronophthisis 13 [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 19 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hepatic cysts [HPO term]
- Mild proteinuria [HPO term]
- Nephronophthisis [HPO term]
- Pancreatic cysts [HPO term]
- Polydactyly [HPO term]
- Renal hypoplasia [HPO term]
- Retinal dystrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Nephronophthisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 13 [DO Concept]
- nephronophthisis type 13 [Disease (Nov.)]

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