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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 LMBR1 on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: 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;   duplication of fibula and ulna with absence of tibia and radius;   miccor hands and feet with nasal defects;   mirror hands and feets-nasal defects syndrome;   tetramelic mirror-image polydactyly
 narrow_synonym: FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS LAURIN-SANDROW SYNDROME, SEGMENTAL
 primary_id: MESH:C535689
 alt_id: OMIM:135750
 xref: GARD:155;   ORDO:2378
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:135750 OMIM
ClinVar
PMID:16059937 PMID:24456159 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Laurin-Sandrow syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Congenital Limb Deformities 456
              Congenital Upper Extremity Deformities 90
                Congenital Hand Deformities 75
                  Laurin-Sandrow syndrome 1
paths to the root