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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      endocrine system disease 5802
        Endocrine Bone Diseases 92
          isolated growth hormone deficiency 31
            isolated growth hormone deficiency type II 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hypopituitarism 46
                    isolated growth hormone deficiency 31
                      isolated growth hormone deficiency type II 1
paths to the root