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Standards Ontologies Notations
syndactyly type 4

Summary
Synonym
  • Haas type syndactyly
  • SDTY4
  • polysyndactyly, Haas type
Definition
A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3.
Super Class
autosomal dominant disease syndactyly
Disease Ontology
DOID:0111818
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6469 SHH sonic hedgehog signaling molecule
Displaying 1 entry
Gene ID Gene Symbol Description Source
20423 Shh sonic hedgehog
Displaying 1 entry
Gene ID Gene Symbol Description Source
29499 Shh sonic hedgehog signaling molecule
Displaying all 2 entries
Gene ID Gene Symbol Description Source
180349 grd-2 Ground-like domain-containing protein
180638 wrt-6 Warthog protein 6 N-product
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024