ONTOLOGY REPORT - ANNOTATIONS


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
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Kowarski Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:1601313
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
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  disease 14823
    syndrome 4218
      Kowarski Syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            thalamic disease 196
              hypothalamic disease 196
                pituitary gland disease 157
                  hypopituitarism 42
                    isolated growth hormone deficiency 28
                      Kowarski Syndrome 1
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