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DOID:0111350 - Laurin-Sandrow syndrome
Disease Ontology 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.
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
Xenbase Genes
:
lmbr1,
mipol1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
dysostosis (is_a)