Sacral agenesis with vertebral anomalies

Preferred Label : Sacral agenesis with vertebral anomalies;

Symbol : SAVA;

CISMeF acronym : SAVA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the mouse T brachyury gene (T, 601397.0002);

Prefixed ID : #615709;

Details

Origin ID

615709;

UMLS CUI

C3810343;

Automatic exact mappings (from CISMeF team)
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome [ORDO Disease]
- TBXT wt Allele [NCIt concept]
Genes related to phenotype
- T-box transcription factor t [OMIM gene]
HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Absence of the sacrum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
ORDO concept(s)
- Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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