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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:Lordosis
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Accession:DOID:9006496 term browser browse the term
Definition:The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL).
Synonyms:primary_id: MESH:D008141


show annotations for term's descendants           Sort by:
Lordosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
hypochondroplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS		 ClinVar Annotator: match by term: Hypochondroplasia
OMIM:146000
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568026 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      musculoskeletal system disease 8314
        bone disease 4304
          spinal disease 1136
            Spinal Curvatures 84
              Lordosis 2
                Camera Marugo Cohen Syndrome 0
                hypochondroplasia 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      Skin and Connective Tissue Diseases 7532
        connective tissue disease 5794
          bone disease 4304
            spinal disease 1136
              Spinal Curvatures 84
                Lordosis 2
                  Camera Marugo Cohen Syndrome 0
                  hypochondroplasia 1
paths to the root