Search Ontology:
Human Disease
syndactyly type 5
- Term ID
- DOID:0111819
- Synonyms
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- SDTY5
- syndactyly with associated metacarpal and metatarsal fusion
- Definition
- A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/16222680
- References
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- GARD:5089
- MESH:C538155
- MIM:186300
- ORDO:93406
- SNOMEDCT_US_2023_03_01:719159004
- UMLS_CUI:C1861348
- Ontology
- Human Disease ( DOID:0111819 )
- is a type of
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Genes Involved
Zebrafish Models