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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: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
For additional species annotation, visit the Alliance of Genome Resources.



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3MC syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: 3MC syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:28301481 NCBI chr 7:85,744,895...85,806,368
Ensembl chr 7:85,744,895...85,805,675
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      congenital heart disease 1202
        3MC syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            disease of mental health 7548
              Neurodevelopmental Disorders 6203
                Developmental Disabilities 675
                  3MC syndrome 3 3
paths to the root