Preferred Name | Greig cephalopolysyndactyly syndrome | |
Synonyms |
polysyndactyly with peculiars skull shape |
|
Definitions |
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. OMIM mapping confirmed by DO. [SN]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_14761 |
|
comment |
OMIM mapping confirmed by DO. [SN]. |
|
alternative label |
polysyndactyly with peculiars skull shape |
|
database_cross_reference |
MESH:C537300 UMLS_CUI:C0265306 SNOMEDCT_US_2023_03_01:32985001 GARD:6550 MIM:175700 NCI:C35255 |
|
definition |
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. OMIM mapping confirmed by DO. [SN]. |
|
has exact synonym |
polysyndactyly with peculiars skull shape |
|
has material basis in | ||
has_alternative_id |
DOID:9251 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:14761 |
|
in_subset | ||
label |
Greig cephalopolysyndactyly syndrome |
|
notation |
DOID:14761 |
|
note |
An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. OMIM mapping confirmed by DO. [SN]. |
|
preferred label |
Greig cephalopolysyndactyly syndrome |
|
prefLabel |
Greig cephalopolysyndactyly syndrome |
|
subClassOf |