Spondylocostal dysostosis 5

Preferred Label : Spondylocostal dysostosis 5;

Symbol : SCDO5;

CISMeF acronym : SCDO5; TACS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondylothoracic dysostosis; Spondylocostal dysplasia; Costovertebral segmentation anomalies; Scoliosis, congenital, with or without rib anomalies; TACS;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of spondylocostal dysostosis, see SCDO1 (277300).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the T-box 6 gene (TBX6, 602427.0001);

Prefixed ID : #122600;

Details

Origin ID

122600;

UMLS CUI

C4083048;

Automatic exact mappings (from CISMeF team)
- Jarcho-Levin syndrome [MeSH Supplementary Concept]
- TAC alternate [MeSH Supplementary Concept]
- spondylocostal dysostosis [DO Concept]
DO Cross reference
- spondylocostal dysostosis [DO Concept]
Genes related to phenotype
- T-box transcription factor 6 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Butterfly vertebrae [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dwarfism [HPO term]
- Hemivertebrae [HPO term]
- Low back pain [HPO term]
- Missing ribs [HPO term]
- Pectus carinatum [HPO term]
- Posterior rib fusion [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- Supernumerary ribs [HPO term]
- Syringomyelia [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Autosomal dominant spondylocostal dysostosis [ORDO Disease]
See also inter- (CISMeF)
- spondylocostal dysostosis 4, autosomal dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal dominant spondylocostal dysostosis [ORDO Disease]

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