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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 11 2,666,405 2,692,213 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:8554872
G Prop1 PROP paired-like homeobox 1 JBrowse link 10 36,449,920 36,452,381 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      endocrine system disease 4808
        Dwarfism 312
          isolated growth hormone deficiency 28
            Combined Pituitary Hormone Deficiency, 2 4
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            thalamic disease 187
              hypothalamic disease 187
                pituitary gland disease 145
                  hypopituitarism 40
                    isolated growth hormone deficiency 28
                      Combined Pituitary Hormone Deficiency, 2 4
paths to the root

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