Renal dysplasia, cystic, susceptibility to

Preferred Label : Renal dysplasia, cystic, susceptibility to;

Symbol : CYSRD;

CISMeF acronym : CYSRD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the homolog of the Drosophila bicaudal C gene (BICC1, 614295.0001);

Prefixed ID : #601331;

Details

Origin ID

601331;

UMLS CUI

C3275898;

Automatic exact mappings (from CISMeF team)
- BICC1 wt Allele [NCIt concept]
- Unilateral multicystic dysplastic kidney [ORDO Disease]
- diffuse cystic renal dysplasia [DO Concept]
DO Cross reference
- diffuse cystic renal dysplasia [DO Concept]
Genes related to phenotype
- Bicc family rna-binding protein 1 [OMIM gene]
HPO term(s)
- Antenatal onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cystic renal dysplasia [HPO term]
- Hyperechogenic kidneys [HPO term]
- Nonsyndromal diffuse cystic renal dysplasia [HPO term]
- Renal dysplasia [HPO term]
- Renal insufficiency [HPO term]
- Vesicoureteral reflux [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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