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ONTOLOGY REPORT - ANNOTATIONS


Term:Combined Pituitary Hormone Deficiency, 2
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Accession:DOID:9008340 term browser browse the term
Synonyms:exact_synonym: Ateliotic Dwarfism With Hypogonadism;   COMBINED PITUITARY HORMONE DEFICIENCY, RECESSIVE;   CPHD2;   Hanhart Dwarfism;   PANHYPOPITUITARISM;   Pituitary Dwarfism III
 primary_id: MESH:C563172
 alt_id: OMIM:262600;   RDO:0012544
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Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHMP2B charged multivesicular body protein 2B JBrowse link 3 89,471,993 89,500,127 RGD:9068941
G LHX3 LIM homeobox 3 JBrowse link 9 136,252,974 136,260,366 RGD:9068941
G POU1F1 POU class 1 homeobox 1 JBrowse link 3 89,504,290 89,521,168 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11912
    disease of anatomical entity 11517
      endocrine system disease 3920
        Dwarfism 303
          isolated growth hormone deficiency 23
            Combined Pituitary Hormone Deficiency, 2 3
Path 2
Term Annotations click to browse term
  disease 11912
    disease of anatomical entity 11517
      nervous system disease 9218
        central nervous system disease 7621
          brain disease 7013
            thalamic disease 149
              hypothalamic disease 149
                pituitary gland disease 107
                  hypopituitarism 34
                    isolated growth hormone deficiency 23
                      Combined Pituitary Hormone Deficiency, 2 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.