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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 NW_004955407 6,014,478 6,047,916 RGD:9068941
G Lhx3 LIM homeobox 3 JBrowse link NW_004955513 4,464,149 4,470,962 RGD:9068941
G Pou1f1 POU class 1 homeobox 1 JBrowse link NW_004955407 5,996,016 6,011,483 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11284
    disease of anatomical entity 10903
      endocrine system disease 3790
        Dwarfism 294
          isolated growth hormone deficiency 23
            Combined Pituitary Hormone Deficiency, 2 3
Path 2
Term Annotations click to browse term
  disease 11284
    disease of anatomical entity 10903
      nervous system disease 8727
        central nervous system disease 7210
          brain disease 6618
            thalamic disease 146
              hypothalamic disease 146
                pituitary gland disease 105
                  hypopituitarism 35
                    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.