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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 IB
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Accession:DOID:0060874 term browser browse the term
Definition:An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO)
Synonyms:exact_synonym: Dwarfism Of Sindh;   IGHD IB;   IGHD1B;   Idiopathic Growth Hormone Deficiency;   congenital IGHD type IB;   congenital isolated GH deficiency type IB;   congenital isolated growth hormone deficiency type IB
 primary_id: MESH:C567564;   RDO:0015612
 alt_id: OMIM:612781
 xref: ORDO:231671
For additional species annotation, visit the Alliance of Genome Resources.


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isolated growth hormone deficiency type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      endocrine system disease 5066
        pituitary gland disease 135
          isolated growth hormone deficiency type IB 1
Path 2
Term Annotations click to browse term
  disease 13805
    disease of anatomical entity 13462
      nervous system disease 11158
        central nervous system disease 9762
          brain disease 9173
            thalamic disease 189
              hypothalamic disease 189
                pituitary gland disease 135
                  hypopituitarism 41
                    isolated growth hormone deficiency 27
                      isolated growth hormone deficiency type IB 1
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