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DO Term : Laurin-Sandrow syndrome [DOID:0111350] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • GARD:155,
  • UMLS_CUI:C1851100,
  • MESH:C535689,
  • 135750,
  • OMIM:135750,
  • miccor hands and feet with nasal defects,
  • mirror hands and feets-nasal defects syndrome,
  • Sandrow syndrome,
  • ORDO:2378,
  • mirror-image polydactyly,
  • MIPduplication of fibuland ulna with absence of tibia and radius,
  • TMIP,
  • tetramelic mirror-image polydactyly,
  • SNOMEDCT_US_2023_03_01:715440003
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