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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:Kowarski Syndrome
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Accession:DOID:9003177 term browser browse the term
Synonyms:exact_synonym: BIODEFECTIVE GROWTH HORMONE;   Nanism due to growth hormone qualitative anomaly;   Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin;   Pituitary dwarfism 4;   Pituitary dwarfism with normal immunoreactive growth hormone
 primary_id: MESH:C537505;   RDO:0003356
 alt_id: OMIM:262650
For additional species annotation, visit the Alliance of Genome Resources.


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Kowarski Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by OMIM:262650
ClinVar Annotator: match by term: Kowarski syndrome
ClinVar
OMIM
PMID:8552145, PMID:9152628, PMID:9276733, PMID:12655557, PMID:15001589, PMID:15713716, PMID:17519310, PMID:18160466, PMID:18950677, PMID:26467025, PMID:28492532, PMID:9276733 RGD:1601313 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Kowarski Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            thalamic disease 192
              hypothalamic disease 192
                pituitary gland disease 147
                  hypopituitarism 44
                    isolated growth hormone deficiency 30
                      Kowarski Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.