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Disease Ontology Browser
Laurin-Sandrow syndrome (DOID:0111350)
Alliance: disease page
Synonyms: miccor hands and feet with nasal defects; MIPduplication of fibuland ulna with absence of tibia and radius; mirror hands and feets-nasal defects syndrome; mirror-image polydactyly; Sandrow syndrome; tetramelic mirror-image polydactyly; TMIP
Alt IDs: OMIM:135750, MESH:C535689, ORDO:2378, UMLS_CUI:C1851100
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
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