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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:parastremmatic dwarfism
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Accession:DOID:0111539 term browser browse the term
Definition:An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: parastremmatic dysplasia
 primary_id: MESH:C537172
 alt_id: OMIM:168400
 xref: GARD:4222;   ORDO:2646
For additional species annotation, visit the Alliance of Genome Resources.


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parastremmatic dwarfism 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 ClinVar Annotator: match by term: Parastremmatic dwarfism OMIM
ClinVar
PMID:4056805 PMID:8179305 PMID:14755468 PMID:19232556 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:22702953 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26467025 PMID:28492532 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 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        Dwarfism 486
          parastremmatic dwarfism 1
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
            spinal disease 874
              bone structure disease 85
                Spinal Curvatures 56
                  Kyphosis 15
                    parastremmatic dwarfism 1
paths to the root