loading...| 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 OMIM:175700 GARD:6550 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 |