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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 the TRPV4 gene on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: parastremmatic dysplasia
 primary_id: MESH:C537172
 alt_id: MIM:168400
 xref: GARD:4222;   ORDO:2646


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        Dwarfism 878
          parastremmatic dwarfism 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    parastremmatic dwarfism 1
paths to the root