Nephronophthisis 7

Preferred Label : Nephronophthisis 7;

Symbol : NPHP7;

CISMeF acronym : NPHP7;

Type : Phenotype, molecular basis known;

Prefixed ID : #611498;

Details

Origin ID

611498;

UMLS CUI

C1969092;

Automatic exact mappings (from CISMeF team)
- GLIS family zinc finger 2 [ORDO Gene]
- GLIS family zinc finger 2 [HGNC gene]
- GLIS2 wt Allele [NCIt concept]
- Juvenile nephronophthisis [ORDO Disease]
- Nephronophthisis [ORDO Disease]
CISMeF manual mappings
- nephronophthisis type 7 [Disease (Nov.)]
Currated CISMeF NLP mapping
- nephronophthisis 7 [DO Concept]
- nephronophthisis 7 [MeSH concept]
- nephronophthisis 7 [MeSH Supplementary Concept]
DO Cross reference
- nephronophthisis 7 [DO Concept]
Genes related to phenotype
- Glis family zinc finger protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nephronophthisis [HPO term]
- Renal tubular atrophy [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 7 [MeSH Supplementary Concept]
- nephronophthisis 7 [MeSH concept]
- nephronophthisis 7 [DO Concept]
- nephronophthisis type 7 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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