loading...| Preferred Name | spondyloepiphyseal dysplasia congenita | |
| Synonyms |
Late Spondyloepiphyseal Dysplasia |
|
| Definitions |
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14789 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Late Spondyloepiphyseal Dysplasia |
|
| database_cross_reference |
OMIM:183900 MESH:C535788 GARD:4987 |
|
| definition |
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. OMIM mapping confirmed by DO. [SN]. |
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| has exact synonym |
Late Spondyloepiphyseal Dysplasia |
|
| has material basis in | ||
| has_alternative_id |
DOID:0080025 |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14789 |
|
| in_subset | ||
| label |
spondyloepiphyseal dysplasia congenita |
|
| notation |
DOID:14789 |
|
| note |
A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
spondyloepiphyseal dysplasia congenita |
|
| prefLabel |
spondyloepiphyseal dysplasia congenita |
|
| subClassOf |