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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        Dwarfism 504
          parastremmatic dwarfism 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            spinal disease 926
              bone structure disease 85
                Spinal Curvatures 56
                  Kyphosis 15
                    parastremmatic dwarfism 1
paths to the root