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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 31 789,586 817,925 RGD:9068941
G LHX3 LIM homeobox 3 JBrowse link 9 49,248,555 49,254,128 RGD:9068941
G POU1F1 POU class 1 homeobox 1 JBrowse link 31 769,454 788,761 RGD:9068941
G PROP1 PROP paired-like homeobox 1 JBrowse link 11 2,739,958 2,742,576 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12071
    disease of anatomical entity 11674
      endocrine system disease 4093
        Dwarfism 307
          isolated growth hormone deficiency 26
            Combined Pituitary Hormone Deficiency, 2 4
Path 2
Term Annotations click to browse term
  disease 12071
    disease of anatomical entity 11674
      nervous system disease 9334
        central nervous system disease 7701
          brain disease 7091
            thalamic disease 154
              hypothalamic disease 154
                pituitary gland disease 113
                  hypopituitarism 38
                    isolated growth hormone deficiency 26
                      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.