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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

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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 chrNW_004936578:3,168,599...3,179,369
Ensembl chrNW_004936578:3,168,331...3,171,928 		JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,332,934...3,339,903
Ensembl chrNW_004936578:3,332,934...3,339,903 		JBrowse link
G Colec11 collectin subfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004936532:1,757,288...1,776,053
Ensembl chrNW_004936532:1,749,894...1,776,001 		JBrowse link
G Crygs crystallin gamma S ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,404,552...3,410,604
Ensembl chrNW_004936578:3,404,673...3,410,760 		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 chrNW_004936578:3,360,259...3,374,634
Ensembl chrNW_004936578:3,360,259...3,374,612 		JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,219,842...3,225,261 JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,302,005...3,310,536
Ensembl chrNW_004936578:3,302,084...3,310,536 		JBrowse link
G Hrg histidine rich glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,285,986...3,295,876
Ensembl chrNW_004936578:3,285,986...3,295,876 		JBrowse link
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,255,335...3,281,296
Ensembl chrNW_004936578:3,253,749...3,281,296 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies OMIM
ClinVar		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chrNW_004936578:2,804,460...2,857,731
Ensembl chrNW_004936578:2,804,460...2,869,582 		JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,204,035...3,219,806 JBrowse link
G Rtp1 receptor transporter protein 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:2,886,994...2,889,557
Ensembl chrNW_004936578:2,886,994...2,889,557 		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 chrNW_004936578:2,966,690...3,107,237
Ensembl chrNW_004936578:2,966,694...3,003,970 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,374,826...3,404,462
Ensembl chrNW_004936578:3,377,256...3,403,598 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      3MC syndrome 17
        3MC syndrome 1 14
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              dysostosis 543
                synostosis 354
                  craniosynostosis 295
                    3MC syndrome 1 14
paths to the root