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Metadata
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://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome
Xrefs

GARD:6550

MESH:C537300

MIM:175700

NCI:C35255

SNOMEDCT_US_2023_03_01:32985001

UMLS_CUI:C0265306

Alternateids

DOID:9251

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

polysyndactyly with peculiars skull shape [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a acrocephalosyndactylia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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