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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 1
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Accession:DOID:0060575 term browser browse the term
Definition:A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)
Synonyms:exact_synonym: 3MC1;   Michels syndrome;   craniosynostosis with lid anomalies;   oculopalatoskeletal syndrome
 primary_id: MESH:C537738
 alt_id: OMIM:257920
 xref: EFO:1001978
For additional species annotation, visit the Alliance of Genome Resources.


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3MC syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,117,903...78,145,956
Ensembl chr11:78,117,918...78,145,999 		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 Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,151,750...78,168,259
Ensembl chr11:78,150,429...78,180,407 		JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,764,126...77,770,810
Ensembl chr11:77,764,124...77,770,781 		JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,082,158...78,093,022
Ensembl chr11:78,082,156...78,095,135 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,054,488...78,069,402
Ensembl chr11:78,054,498...78,069,389 		JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971 		JBrowse link
G LOC120095726 small nucleolar RNA SNORA63 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,766,654...77,766,782
Ensembl chr11:77,766,654...77,766,782 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 1		 OMIM
CTD
ClinVar		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,749,642...77,764,123
Ensembl chr11:77,749,638...77,764,122 		JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,455,712...5,459,828
Ensembl chr10:5,454,559...5,462,029 		JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,422,982...77,425,498
Ensembl chr11:77,422,982...77,425,498 		JBrowse link
G Snora81 small nucleolar RNA, H/ACA box 81 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,767,579...77,767,756
Ensembl chr11:77,767,579...77,767,756 		JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,168,386...78,205,314
Ensembl chr11:78,168,388...78,205,523 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      3MC syndrome 20
        3MC syndrome 1 17
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      Skin and Connective Tissue Diseases 6843
        connective tissue disease 5170
          bone disease 3847
            bone development disease 1906
              dysostosis 449
                synostosis 294
                  craniosynostosis 235
                    3MC syndrome 1 17
paths to the root