Nephronophthisis 9

Preferred Label : Nephronophthisis 9;

Symbol : NPHP9;

CISMeF acronym : NPHP9;

Type : Phenotype, molecular basis known;

Description : Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by Otto et al., 2008). For a general description and a discussion of genetic heterogeneity of;

Prefixed ID : #613824;

Details

Origin ID

613824;

UMLS CUI

C3151188;

Automatic exact mappings (from CISMeF team)
- Infantile nephronophthisis [ORDO Disease]
- NIMA related kinase 8 [ORDO Gene]
- NIMA related kinase 8 [HGNC gene]
- Nephronophthisis [ORDO Disease]
CISMeF manual mappings
- nephronophthisis type 9 [Disease (Nov.)]
Currated CISMeF NLP mapping
- nephronophthisis 9 [DO Concept]
DO Cross reference
- nephronophthisis 9 [DO Concept]
Genes related to phenotype
- Nima-related kinase 8 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nephronophthisis [HPO term]
- Renal cortical microcysts [HPO term]
- Stage 5 chronic kidney disease [HPO term]
Not associated HPO term(s)
- Retinal degeneration [HPO term]
ORDO concept(s)
- Nephronophthisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 9 [DO Concept]
- nephronophthisis type 9 [Disease (Nov.)]

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