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Metaphyseal Anadysplasia - Ontology Report - Rat Genome Database

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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:Metaphyseal Anadysplasia
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Accession:DOID:9001193 term browser browse the term
Synonyms:exact_synonym: Early-onset regressive form of metaphyseal dysplasia
 primary_id: MESH:C537351

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Metaphyseal Anadysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human)
ClinVar Annotator: match by term: Metaphyseal anadysplasia		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:19615667 RGD:13204811 NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:missense mutations: :p.M1K (c.21T>A)(human) RGD PMID:19615667 RGD:13204811 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
Metaphyseal Anadysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant ClinVar PMID:13915518 PMID:19615667 PMID:24648384 PMID:25741868 PMID:27576021 More... NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: MMP9-related condition | ClinVar Annotator: match by term: Metaphyseal anadysplasia 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16631427 PMID:18035073 PMID:19615667 PMID:20605480 PMID:22942228 More... NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          Metaphyseal Anadysplasia 2
            Metaphyseal Anadysplasia 1 1
            Metaphyseal Anadysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                Metaphyseal Anadysplasia 2
                  Metaphyseal Anadysplasia 1 1
                  Metaphyseal Anadysplasia 2 1
paths to the root