Townes-brocks syndrome 2

Preferred Label : Townes-brocks syndrome 2;

Symbol : TBS2;

CISMeF acronym : TBS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the antagonist of beta-catenin 1 Dapper (DACT, 607861.0001);

Prefixed ID : #617466;

Details

Origin ID

617466;

UMLS CUI

C4479534;

Genes related to phenotype
- Dapper, antagonist of beta-catenin, 1 [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uterus [HPO term]
- Crossed fused renal ectopia [HPO term]
- Cupped ear [HPO term]
- Hypospadias [HPO term]
- Microtia [HPO term]
- Overfolded helix [HPO term]
- Rectovaginal fistula [HPO term]
- Scoliosis [HPO term]
- Spina bifida occulta [HPO term]
ORDO concept(s)
- Townes-Brocks syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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