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Metadata
ID DOID:0111817
Name syndactyly type 3
Definition A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31.
https://www.ncbi.nlm.nih.gov/pubmed/12457340, https://www.ncbi.nlm.nih.gov/pubmed/14361398
Xrefs

GARD:5088

MESH:C538154

OMIM:186100

ORDO:93404

SNOMEDCT_US_2023_03_01:715725001

UMLS_CUI:C1861366

Subsets

DO_rare_slim

Synonyms

ringand little finger syndactyly [EXACT]

SDTY3 [EXACT]

syndactyly of fingers 4 and 5 [EXACT]

syndactyly, type III [EXACT]

Parent Relationships

is_a syndactyly

is_a autosomal dominant disease

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