Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13616
    disease of anatomical entity 13281
      endocrine system disease 5006
        pituitary gland disease 130
          isolated growth hormone deficiency type IB 1
Path 2
Term Annotations click to browse term
  disease 13616
    disease of anatomical entity 13281
      nervous system disease 10996
        central nervous system disease 9627
          brain disease 9042
            thalamic disease 183
              hypothalamic disease 183
                pituitary gland disease 130
                  hypopituitarism 38
                    isolated growth hormone deficiency 24
                      isolated growth hormone deficiency type IB 1
paths to the root