OBO ID: DOID:0111564 |
Term Name: | hypoplastic or aplastic tibia with polydactyly | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/19847792 | ||
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Ontology: | Human Disease ( DOID:0111564 ) |
OTHER hypoplastic or aplastic tibia with polydactyly PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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