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| Term | syndactyly type 5 | ID (Ontology) | DOID:0111819 (Human Disease) |
| 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. | ||
| Also Known As | "SDTY5" ; "syndactyly with associated metacarpal and metatarsal fusion" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal dominant disease__ synostosis | |__syndactyly__________________| syndactyly type 5 |
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| Is a |
autosomal dominant disease syndactyly |
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External Crossreferences & Linkouts
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GARD:5089 MESH:C538155 MIM:186300 ORDO:93406 SNOMEDCT_US_2023_03_01:719159004 UMLS_CUI:C1861348 |
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