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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: LSS;   Laurin-Sandrow Syndrome, Segmental;   MIP;   MIPduplication of fibuland ulna with absence of tibia and radius;   Sandrow syndrome;   TMIP;   duplication of fibula and ulna with absence of tibia and radius;   fibula ulna duplication, tibia radius absence;   miccor hands and feet with nasal defects;   mirror hands and feet with nasal defects;   mirror hands and feets-nasal defects syndrome;   mirror-image polydactyly;   tetramelic mirror-image polydactyly
 primary_id: MESH:C535689
 alt_id: MIM:135750
 xref: GARD:155;   ORDO:2378


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Laurin-Sandrow syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Laurin-Sandrow syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16059937 PMID:24456159 NCBI chr 4:5,974,687...6,146,348 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      Laurin-Sandrow syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7885
          Musculoskeletal Abnormalities 3456
            Congenital Limb Deformities 1071
              Congenital Upper Extremity Deformities 233
                Congenital Hand Deformities 204
                  Laurin-Sandrow syndrome 1
paths to the root