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 |
definition |
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0050689 |
label |
brachydactyly-syndactyly syndrome |
notation |
DOID:0050689 |
prefLabel |
brachydactyly-syndactyly syndrome |
subClassOf |