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| Term | hypoplastic or aplastic tibia with polydactyly | ID (Ontology) | DOID:0111564 (Human Disease) |
| Definition | A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. | ||
| Also Known As | "absence of tibia with polydactyly" ; "absent tibia-polydactyly syndrome" ; "hypoplastic tibiae-postaxial polydactyly syndrome" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| hypoplastic or aplastic tibia with polydactyly |
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autosomal dominant disease syndrome |
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GARD:8309 MESH:C535564 MIM:188740 ORDO:3332 ORDO:988 UMLS_CUI:C1861099 |
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