Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

ONTOLOGY REPORT - ANNOTATIONS
Term:isolated growth hormone deficiency
go back to main search page
Accession:DOID:0060870 term browser browse the term
Definition:A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.
Synonyms:exact_synonym: Dwarfism, Pituitary;   Growth Hormone Deficiency Dwarfism;   Hypophysial Dwarf;   Hyposomatotrophic Dwarfism;   IGHD;   Isolated GH Deficiency;   Isolated HGH Deficiency;   Isolated Human Growth Hormone Deficiency;   Isolated Somatotropin Deficiency;   Isolated Somatotropin Deficiency Disorder;   Pituitary Dwarf;   Pituitary Nanism;   congenital IGHD;   congenital isolated GH deficiency;   congenital isolated growth hormone deficiency;   familial isolated growth hormone deficiency;   non-acquired isolated growth hormone deficiency
 primary_id: MESH:D004393
 alt_id: OMIA:000307;   RDO:0002370
 xref: GARD:12556;   ICD9CM:253.3;   NCI:C34555;   OMIM:PS262400;   ORDO:631
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 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:8554872
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904703
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:1601315
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:1601337
RGD:8554872
RGD:1601338
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:12904721
G Hpca hippocalcin JBrowse link 5 147,295,124 147,305,757 RGD:9693682
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910859
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:11554173
G Tg thyroglobulin JBrowse link 7 107,467,260 107,652,897 RGD:730133
RGD:12880373
G Tgrdw thyroglobulin; rdw mutant RGD:730133
RGD:12880373
Alazami Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Larp7 La ribonucleoprotein 7, transcriptional regulator JBrowse link 2 231,866,888 231,882,002 RGD:7240710
RGD:8554872
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:8554872
G Prop1 PROP paired-like homeobox 1 JBrowse link 10 36,449,920 36,452,381 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:7240710
RGD:8554872
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:7240710
RGD:8554872
isolated growth hormone deficiency type IA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:8554872
G Dna2 DNA replication helicase/nuclease 2 RGD:8694132
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:8554872
RGD:12904729
RGD:7240710
G Ghrh growth hormone releasing hormone JBrowse link 3 153,449,124 153,468,794 RGD:13592920
G Ghrhr growth hormone releasing hormone receptor JBrowse link 4 85,587,321 85,602,389 RGD:8554872
G Poc1a POC1 centriolar protein A JBrowse link 8 114,982,764 115,050,844 RGD:8554872
G Xrcc4 X-ray repair cross complementing 4 JBrowse link 2 18,674,496 18,927,463 RGD:8554872
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
isolated growth hormone deficiency type II 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:8554872
RGD:7240710
isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 JBrowse link 2 216,481,457 216,510,051 RGD:8554872
RGD:7240710
Kowarski Syndrome 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:1601313
RGD:8554872
RGD:7240710
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox3 SRY-box transcription factor 3 JBrowse link X 144,035,162 144,037,364 RGD:8554872
RGD:11535974
Short Stature, Idiopathic, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:7240710
RGD:8554872
G Ghsr growth hormone secretagogue receptor JBrowse link 2 113,065,953 113,071,265 RGD:8554872
G Igfals insulin-like growth factor binding protein, acid labile subunit JBrowse link 10 14,240,308 14,243,554 RGD:12910853
G Spag17 sperm associated antigen 17 JBrowse link 2 202,159,659 202,452,361 RGD:11535959
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      endocrine system disease 4837
        Endocrine Bone Diseases 84
          isolated growth hormone deficiency 28
            Alazami Syndrome 1
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Combined Pituitary Hormone Deficiency, 2 4
            Combined Pituitary Hormone Deficiency, 3 1
            Combined Pituitary Hormone Deficiency, 4 2
            Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
            Isolated Growth Hormone Deficiency Type V 1
            Kowarski Syndrome 1
            Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 1
            Pituitary Dwarfism with Large Sella Turcica 0
            Short Stature, Idiopathic, Autosomal 4
            isolated growth hormone deficiency type IA 8
            isolated growth hormone deficiency type IB 2
            isolated growth hormone deficiency type II 1
            isolated growth hormone deficiency type III 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            thalamic disease 196
              hypothalamic disease 196
                pituitary gland disease 154
                  hypopituitarism 41
                    isolated growth hormone deficiency 28
                      Alazami Syndrome 1
                      CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                      Combined Pituitary Hormone Deficiency, 2 4
                      Combined Pituitary Hormone Deficiency, 3 1
                      Combined Pituitary Hormone Deficiency, 4 2
                      Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                      Isolated Growth Hormone Deficiency Type V 1
                      Kowarski Syndrome 1
                      Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 1
                      Pituitary Dwarfism with Large Sella Turcica 0
                      Short Stature, Idiopathic, Autosomal 4
                      isolated growth hormone deficiency type IA 8
                      isolated growth hormone deficiency type IB 2
                      isolated growth hormone deficiency type II 1
                      isolated growth hormone deficiency type III 1
paths to the root

Contact Us |  About Us |  License CC BY 4.0 |  Legal Disclaimer |  © Medical College of Wisconsin
NHLBI Logo

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