Preferred Name |
acrofacial dysostosis |
|
Synonyms |
|
|
Definitions |
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0060379 |
|
created_by |
elvira |
|
creation_date |
2015-09-21T15:24:28Z |
|
definition |
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060379 |
|
label |
acrofacial dysostosis |
|
notation |
DOID:0060379 |
|
prefLabel |
acrofacial dysostosis |
|
subClassOf |
Create mapping