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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 sub-family member 11 JBrowse link 12 28,594,172 28,623,458 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 16 23,451,785 23,521,240 RGD:11554173
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 JBrowse link 18 61,196,854 61,211,596 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13045
    syndrome 5787
      3MC syndrome 18
        3MC syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 13045
    disease of anatomical entity 12696
      nervous system disease 10225
        peripheral nervous system disease 2338
          neuropathy 2164
            cranial nerve disease 406
              ocular motility disease 128
                strabismus 21
                  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.