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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_14789 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:183900 GARD:4987 MESH:C535788 |
| 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. |
| has exact synonym |
Late Spondyloepiphyseal Dysplasia |
| has material basis in | |
| has_alternative_id |
DOID:0080025 |
| has_obo_namespace |
disease_ontology |
| id |
DOID:14789 |
| in_subset | |
| label |
spondyloepiphyseal dysplasia congenita |
| notation |
DOID:14789 |
| prefLabel |
spondyloepiphyseal dysplasia congenita |
| subClassOf |