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Metadata
ID DOID:0111816
Name syndactyly type 1
Definition A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36.
https://www.ncbi.nlm.nih.gov/pubmed/21167467, https://www.ncbi.nlm.nih.gov/pubmed/7915184
Xrefs

GARD:5081

OMIM:185900

ORDO:93402

Subsets

DO_rare_slim

Synonyms

chromosome 2q35 duplication syndrome [EXACT]

SDTY1 [EXACT]

syndactyly, type 1, with or without craniosynostosis [EXACT]

Parent Relationships

is_a syndactyly

is_a chromosomal duplication syndrome

is_a autosomal dominant disease

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