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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: OMIM:168400
 xref: GARD:4222;   ORDO:2646

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Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      endocrine system disease 5498
        Dwarfism 780
          parastremmatic dwarfism 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  intellectual disability 3919
                    parastremmatic dwarfism 1
paths to the root