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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
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: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488 		JBrowse link
G Ahsg alpha-2-HS-glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,711,269...81,717,594 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 Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,741,342...81,757,806
Ensembl chr11:81,741,297...81,757,813 		JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,373,047...81,379,680
Ensembl chr11:81,373,048...81,379,871 		JBrowse link
G Fetub fetuin B ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,648,890...81,660,472
Ensembl chr11:81,648,885...81,660,395 		JBrowse link
G Hrg histidine-rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,621,274...81,639,938
Ensembl chr11:81,621,283...81,639,952 		JBrowse link
G Kng2 kininogen 2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Masp1 MBL associated serine protease 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by OMIM:257920
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:28492532 PMID:28794230 PMID:29407414 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382 		JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,358,592...81,373,044
Ensembl chr11:81,358,592...81,373,043 		JBrowse link
G Rpl39l ribosomal protein L39-like ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr10:5,529,580...5,533,695
Ensembl chr10:5,529,589...5,533,695 		JBrowse link
G Rtp1 receptor (chemosensory) transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:80,823,989...80,826,505
Ensembl chr11:80,823,989...80,826,505 		JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:80,927,601...80,981,424
Ensembl chr11:80,927,601...80,981,422 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr11:81,757,963...81,794,367
Ensembl chr11:81,757,983...81,794,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      3MC syndrome 18
        3MC syndrome 1 15
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Skin and Connective Tissue Diseases 4954
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    3MC syndrome 1 15
paths to the root