Nephronophthisis 11

Preferred Label : Nephronophthisis 11;

Symbol : NPHP11;

CISMeF acronym : NPHP11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0018);

Prefixed ID : #613550;

Détails

Origin ID

613550;

UMLS CUI

C3150796;

Automatic exact mappings (from CISMeF team)
- Senior-Boichis syndrome [ORDO Disease]
- transmembrane protein 67 [ORDO Gene]
- transmembrane protein 67 [HGNC gene]
Currated CISMeF NLP mapping
- nephronophthisis 11 [DO Concept]
- nephronophthisis type 11 [Disease (Nov.)]
DO Cross reference
- nephronophthisis 11 [DO Concept]
Genes related to phenotype
- Transmembrane protein 67 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Anisocoria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hepatic fibrosis [HPO term]
- Nephronophthisis [HPO term]
- Nystagmus [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Renal corticomedullary cysts [HPO term]
- Renal tubular atrophy [HPO term]
- Retinal degeneration [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Strabismus [HPO term]
- Tubular basement membrane disintegration [HPO term]
ORDO concept(s)
- Senior-Boichis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nephronophthisis 11 [DO Concept]
- nephronophthisis type 11 [Disease (Nov.)]

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