Details of Disease | DrugMAP

General Information of Disease (ID: DIS4MD8H)

Disease Name	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Synonyms	sacral agenesis with vertebral anomalies; SAVA
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS5J95E: Neural tube defect DIS4MD8H: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Disease Identifiers	MONDO ID MONDO_0014314 UMLS CUI C3810343 OMIM ID 615709 MedGen ID 816673 Orphanet ID 397927

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TBXT	TTBXAHS	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBXT	OTHCO2F0	Supportive	Autosomal recessive	[1]
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References

1	Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. J Med Genet. 2014 Feb;51(2):90-7. doi: 10.1136/jmedgenet-2013-102001. Epub 2013 Nov 19.