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ONTOLOGY REPORT - ANNOTATIONS


Term:3MC syndrome 2
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Accession:DOID:0060576 term browser browse the term
Definition:A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)
Synonyms:exact_synonym: 3MC2;   Carnevale Krajewska Fischetto syndrome;   Carnevale Syndrome;   OSA Syndrome;   oculo-skeletal-abdominal syndrome;   ptosis of eyelids with diastasis recti and hip dysplasia
 primary_id: MESH:C535586
 alt_id: OMIM:265050
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3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 3 131,226,941 131,254,555 RGD:7240710
RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 13 124,938,469 125,028,440 RGD:9068941
G SLC26A2 solute carrier family 26 member 2 JBrowse link 2 150,996,868 151,027,483 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12432
    syndrome 5521
      3MC syndrome 17
        3MC syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 12432
    disease of anatomical entity 12114
      nervous system disease 9844
        peripheral nervous system disease 2255
          neuropathy 2087
            cranial nerve disease 381
              ocular motility disease 113
                strabismus 20
                  3MC syndrome 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.