Nephronophthisis 14

Preferred Label : Nephronophthisis 14;

Symbol : NPHP14;

CISMeF acronym : JBTS19; NPHP14;

Type : Phenotype, molecular basis known;

Included titles and symbols : Joubert syndrome 19; JBTS19;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger protein 423 gene (ZNF423, 604557.0001);

Prefixed ID : #614844;

Details

Origin ID

614844;

UMLS CUI

C3539071;

Currated CISMeF NLP mapping
- nephronophthisis 14 [DO Concept]
- nephronophthisis type 14 [Disease (Nov.)]
DO Cross reference
- nephronophthisis 14 [DO Concept]
Genes related to phenotype
- Zinc finger protein 423 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Nephronophthisis [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Retinal degeneration [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Joubert syndrome with oculorenal defect [ORDO Disease]
See also inter- (CISMeF)
- ZNF423 wt Allele [NCIt concept]
- zinc finger protein 423 [ORDO Gene]
- zinc finger protein 423 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 14 [DO Concept]
- nephronophthisis type 14 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients