Nephronophthisis 15

Preferred Label : Nephronophthisis 15;

Symbol : NPHP15;

CISMeF acronym : NPHP15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 164-kD centrosomal protein gene (CEP164, 614848.0001);

Prefixed ID : #614845;

Details

Origin ID

614845;

UMLS CUI

C3541853;

Automatic exact mappings (from CISMeF team)
- centrosomal protein 164 [ORDO Gene]
- centrosomal protein 164 [HGNC gene]
Currated CISMeF NLP mapping
- nephronophthisis 15 [DO Concept]
- nephronophthisis type 15 [Disease (Nov.)]
DO Cross reference
- nephronophthisis 15 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 164-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Hepatic failure [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Polydactyly [HPO term]
- Retinal degeneration [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Senior-Loken syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 15 [DO Concept]
- nephronophthisis type 15 [Disease (Nov.)]

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