01
DLL3
No data
Diseases
Spondylocostal Dysostosis 1, Autosomal Recessive
spondylocostal dysostosis 1, autosomal recessive
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
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
Related Entities
Direct relations and traceable candidates grouped by relation type.