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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: Malpuech facial clefting syndrome ClinVar
OMIM
PMID:28301481 NCBI chr 7:93,975,451...94,035,999
Ensembl chr 7:93,975,451...94,035,999
JBrowse link
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital heart disease 1057
        3MC syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            disease of mental health 5972
              Neurodevelopmental Disorders 4516
                Developmental Disabilities 498
                  3MC syndrome 3 3
paths to the root