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ONTOLOGY REPORT - ANNOTATIONS


Term:3MC syndrome 3
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Accession:DOID:0060577 term browser browse the term
Definition:A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: 3MC3;   Malpuech facial clefting syndrome;   Malpuech syndrome;   facial clefting syndrome, Gypsy type
 primary_id: MESH:C535704
 alt_id: OMIM:248340;   RDO:0000969;   RDO:9001762
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3MC syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec10 collectin subfamily member 10 JBrowse link 7 93,975,451 94,035,999 RGD:8554872
RGD:7240710
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:11554173
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      congenital heart disease 849
        3MC syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal recessive disease 1974
                3MC syndrome 16
                  3MC syndrome 3 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.