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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 87,227,309 87,255,556 RGD:8554872
G LHX3 LIM homeobox 3 JBrowse link 9 136,196,250 136,205,128 RGD:8554872
G POU1F1 POU class 1 homeobox 1 JBrowse link 3 87,259,404 87,276,584 RGD:8554872
G PROP1 PROP paired-like homeobox 1 JBrowse link 5 177,992,235 177,996,242 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      endocrine system disease 4760
        Dwarfism 340
          isolated growth hormone deficiency 29
            Combined Pituitary Hormone Deficiency, 2 4
Path 2
Term Annotations click to browse term
  disease 16489
    disease of anatomical entity 15414
      nervous system disease 11652
        central nervous system disease 9760
          brain disease 9034
            thalamic disease 162
              hypothalamic disease 162
                pituitary gland disease 120
                  hypopituitarism 41
                    isolated growth hormone deficiency 29
                      Combined Pituitary Hormone Deficiency, 2 4
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.