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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;   MASP1-RELATED CONDITION;   Michels syndrome;   craniosynostosis with lid anomalies;   oculopalatoskeletal syndrome
 primary_id: MESH:C537738
 alt_id: MIM: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 chr11:91,226,524...91,240,244 JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:78,121,388...78,127,998 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 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 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 chr11:91,656,334...91,672,800 JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,268,730...91,276,738 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 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 JBrowse link
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:77,812,757...77,835,555 JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition
OMIM
CTD
ClinVar
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 More... NCBI chr11:77,334,794...77,405,271 JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:91,254,273...91,268,727 JBrowse link
G Rpl39l1 ribosomal protein L39 like 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1 ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,455,712...5,459,828 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 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 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 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 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      3MC syndrome 19
        3MC syndrome 1 16
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7770
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              dysostosis 637
                synostosis 402
                  craniosynostosis 337
                    3MC syndrome 1 16
paths to the root