|
| General Information | |||
|---|---|---|---|
| Term | spondylocostal dysostosis 1 | ID (Ontology) | DOID:0112365 (Human Disease) |
| Definition | A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. | ||
| Also Known As | "autosomal recessive spondylocostal dysostosis 1" ; "SCDO1" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__ spinal disease | |__spondylocostal dysostosis____| dysostosis | |__spondylocostal dysostosis____| spondylocostal dysostosis 1 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
spondylocostal dysostosis autosomal recessive disease |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
| MIM:277300 | |||