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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 2
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Accession:DOID:0060576 term browser browse the term
Definition:A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)
Synonyms:exact_synonym: 3MC2;   Carnevale Krajewska Fischetto syndrome;   Carnevale Syndrome;   OSA Syndrome;   oculo-skeletal-abdominal syndrome;   ptosis of eyelids with diastasis recti and hip dysplasia
 primary_id: MESH:C535586
 alt_id: MIM:265050
 xref: EFO:1001977


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3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: 3MC syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    syndrome 11181
      3MC syndrome 19
        3MC syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 19047
    Pathological Conditions, Signs and Symptoms 13529
      Signs and Symptoms 11084
        Neurologic Manifestations 10336
          sensory system disease 7252
            eye disease 3729
              refractive error 235
                hyperopia 44
                  strabismus 37
                    3MC syndrome 2 3
paths to the root