01
DLL3
No data
Diseases
Spondylocostal Dysostosis 1, Autosomal Recessive
spondylocostal dysostosis 1, autosomal recessive
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Spondylocostal Dysostosis 1, Autosomal Recessive
- Standard Disease Name
- spondylocostal dysostosis 1, autosomal recessive
- MeSH Tree
- No data
- ICD-10
- Q76.8
Identifiers
- DO ID
- No data
- MeSH ID
- C535781|C537565
- OMIM ID
- 277300|277300|609813|608681|613686|616566
- UMLS ID
- C0265343
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs.
Related
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