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Metadata
DOID 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

GARD:6550

MESH:C537300

NCI:C35255

OMIM:175700

SNOMEDCT_US_2018_03_01:32985001

UMLS_CUI:C0265306

Alternateids

DOID:9251

Subsets

NCIthesaurus

Synonyms

polysyndactyly with peculiars skull shape [EXACT]

Relationships

is_a acrocephalosyndactylia

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