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

ONTOLOGY REPORT - ANNOTATIONS


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       view all columns           Sort by:
 
isolated growth hormone deficiency type IB 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:7240710
RGD:8554872
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      endocrine system disease 4808
        pituitary gland disease 145
          isolated growth hormone deficiency type IB 2
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 IB 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.