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loading...| Preferred Name |
brachydactyly-syndactyly syndrome |
| Definitions |
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050689 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| created_by |
snadendla |
| creation_date |
2011-06-17T03:55:47Z |
| database_cross_reference |
OMIM:610713 MESH:C565193 |
| id |
DOID:0050689 |
| label |
brachydactyly-syndactyly syndrome |
| notation |
DOID:0050689 |
| prefLabel |
brachydactyly-syndactyly syndrome |
| textual definition |
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |
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