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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


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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 sub-family member 10 ISO ClinVar Annotator: match by term: 3MC syndrome 3 | ClinVar Annotator: match by term: Malpuech syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28301481 NCBI chr15:54,274,170...54,329,755
Ensembl chr15:54,274,170...54,329,754 		JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr16:23,261,778...23,340,127
Ensembl chr16:23,268,167...23,339,565 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    physical disorder 5000
      congenital heart disease 1351
        3MC syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              Neurodevelopmental Disorders 6891
                Developmental Disabilities 790
                  3MC syndrome 3 3
paths to the root