Nephronophthisis 19

Preferred Label : Nephronophthisis 19;

Symbol : NPHP19;

CISMeF acronym : NPHP19;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the doublecortin domain-containing protein 2 gene (DCDC2, 605755.0001);

Prefixed ID : #616217;

Details

Origin ID

616217;

UMLS CUI

C4015542;

Automatic exact mappings (from CISMeF team)
- doublecortin domain containing 2 [ORDO Gene]
- doublecortin domain containing 2 [HGNC gene]
CISMeF manual mappings
- nephronophthisis 19 [DO Concept]
DO Cross reference
- nephronophthisis 19 [DO Concept]
Genes related to phenotype
- Doublecortin domain-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Cholestasis [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Nephronophthisis [HPO term]
- Splenomegaly [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Senior-Boichis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 19 [DO Concept]

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