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| Term | Laurin-Sandrow syndrome | ID (Ontology) | DOID:0111350 (Human Disease) |
| Definition | A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. | ||
| Also Known As | "miccor hands and feet with nasal defects" ; "MIPduplication of fibuland ulna with absence of tibia and radius" ; "mirror hands and feets-nasal defects syndrome" (for all, see Synonyms field below) | ||
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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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autosomal genetic disease |__autosomal dominant disease__ bone development disease | |__dysostosis__________________| Laurin-Sandrow syndrome 1 rec. |
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| Is a |
autosomal dominant disease dysostosis |
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External Crossreferences & Linkouts
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GARD:155 MESH:C535689 MIM:135750 ORDO:2378 SNOMEDCT_US_2023_03_01:715440003 UMLS_CUI:C1851100 |
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