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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: 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;   isolated growth hormone deficiency, autosomal dominant
 primary_id: MESH:C562704
 alt_id: OMIM:173100
 xref: ORDO:231679

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isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004624871:1,886,650...1,983,165
Ensembl chrNW_004624871:1,886,688...1,980,105 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      endocrine system disease 5515
        Endocrine Bone Diseases 329
          isolated growth hormone deficiency 45
            isolated growth hormone deficiency type II 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        central nervous system disease 10811
          brain disease 10142
            hypothalamic disease 450
              pituitary gland disease 229
                hypopituitarism 68
                  isolated growth hormone deficiency 45
                    isolated growth hormone deficiency type II 1
paths to the root