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ONTOLOGY REPORT - ANNOTATIONS


Term:Laurin-Sandrow syndrome
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Accession:DOID:0111350 term browser browse the term
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 (<80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius;   Fibula ulna duplication tibia radius absence;   LSS;   Laurin-Sandrow Syndrome, Segmental;   MIP;   MIPduplication of fibuland ulna with absence of tibia and radius;   Mirror hands and feet with nasal defects;   Mirror-Image Polydactyly;   Sandrow syndrome;   TMIP;   Tetramelic mirror-image polydactyly;   miccor hands and feet with nasal defects;   mirror hands and feets-nasal defects syndrome
 narrow_synonym: FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL
 primary_id: MESH:C535689
 alt_id: DOID:9007940;   OMIM:135750;   RDO:0000949
 xref: GARD:155;   ORDO:2378
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Laurin-Sandrow syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872

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Path 1
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  disease 15625
    syndrome 5162
      Laurin-Sandrow syndrome 1
Path 2
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  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        Congenital Abnormalities 3600
          Musculoskeletal Abnormalities 1302
            Congenital Limb Deformities 409
              Lower Extremity Deformities, Congenital 76
                Congenital Foot Deformities 68
                  Laurin-Sandrow syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.