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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 13 168,534,950 168,569,574 RGD:9068941
G LHX3 LIM homeobox 3 RGD:9068941
G POU1F1 POU class 1 homeobox 1 JBrowse link 13 168,510,671 168,530,394 RGD:9068941
G PROP1 PROP paired-like homeobox 1 JBrowse link 2 79,627,466 79,631,270 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12016
    disease of anatomical entity 11623
      endocrine system disease 4062
        Dwarfism 304
          isolated growth hormone deficiency 24
            Combined Pituitary Hormone Deficiency, 2 4
Path 2
Term Annotations click to browse term
  disease 12016
    disease of anatomical entity 11623
      nervous system disease 9286
        central nervous system disease 7668
          brain disease 7052
            thalamic disease 151
              hypothalamic disease 151
                pituitary gland disease 111
                  hypopituitarism 36
                    isolated growth hormone deficiency 24
                      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.