Metadata | |
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ID | DOID:14761 |
Name | Greig cephalopolysyndactyly syndrome |
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. http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome, http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550 |
Xrefs |
SNOMEDCT_US_2023_03_01:32985001 |
Alternateids |
DOID:9251 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
polysyndactyly with peculiars skull shape [EXACT] |
Parent Relationships |