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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated growth hormone deficiency type II
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Accession:DOID:0060872 term browser browse the term
Definition:An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)
Synonyms:exact_synonym: Growth Hormone Deficiency, Isolated, Autosomal Dominant;   IGHD II;   IGHD2;   Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant;   congenital IGHD type II;   congenital isolated GH deficiency type II;   congenital isolated growth hormone deficiency type II
 primary_id: MESH:C562704;   RDO:0012300
 alt_id: OMIM:173100
 xref: ORDO:231679
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isolated growth hormone deficiency type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      endocrine system disease 4808
        Endocrine Bone Diseases 84
          isolated growth hormone deficiency 28
            isolated growth hormone deficiency type II 1
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
                      isolated growth hormone deficiency type II 1
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