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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 6 47,857,767 47,889,961 RGD:7240710
RGD:8554872
RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173

Term paths to the root
Path 1
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  disease 15609
    physical disorder 781
      cryptorchidism 53
        3MC syndrome 2 2
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            cranial nerve disease 369
              ocular motility disease 114
                strabismus 23
                  3MC syndrome 2 2
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