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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:metatropic dysplasia
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Accession:DOID:0111514 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: metatrophic dysplasia;   metatropic dwarfism;   metatropic dysplasia 1;   metatropic dysplasia type 1
 primary_id: MESH:C537356
 alt_id: OMIM:156530
 xref: GARD:3571;   NCI:C175209;   ORDO:2635
For additional species annotation, visit the Alliance of Genome Resources.


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metatropic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Metatrophic dysplasia
ClinVar Annotator: match by term: Metatropic dwarfism
OMIM
CTD
ClinVar
PMID:4056805 PMID:8179305 PMID:14755468 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964829 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:27530454 PMID:28492532 PMID:28898540 PMID:30311386 NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      endocrine system disease 5009
        Dwarfism 496
          metatropic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                spondyloepimetaphyseal dysplasia 75
                  metatropic dysplasia 1
paths to the root