Renal hypodysplasia/aplasia 2

Preferred Label : Renal hypodysplasia/aplasia 2;

Symbol : RHDA2;

CISMeF acronym : RHDA2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fibroblast growth factor 20 gene (FGF20, 605558.0002);

Prefixed ID : #615721;

Details

Origin ID

615721;

UMLS CUI

C3810359;

Automatic exact mappings (from CISMeF team)
- FGF20 wt Allele [NCIt concept]
Genes related to phenotype
- Fibroblast growth factor 20 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Potter facies [HPO term]
- Pulmonary hypoplasia [HPO term]
- Redundant skin [HPO term]
ORDO concept(s)
- Renal agenesis [ORDO Disease]
- Renal agenesis, bilateral [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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