|
| General Information | |||
|---|---|---|---|
| Term | spondyloepimetaphyseal dysplasia, Strudwick type | ID (Ontology) | DOID:0080028 (Human Disease) |
| Definition | A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). | ||
| 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 dominant disease________ spinal disease | |__spondyloepimetaphyseal dysplasia__| osteochondrodysplasia | |__spondyloepimetaphyseal dysplasia__| spondyloepimetaphyseal dysplasia, Strudwick type |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease spondyloepimetaphyseal dysplasia |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:134 MIM:184250 ORDO:93346 |
|||