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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
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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
 broad_synonym: 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.


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isolated growth hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797
JBrowse link
G GHR growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated growth hormone deficiency
DNA:deletion
RGD
ClinVar
PMID:8528260 PMID:9845677 RGD:1601337 RGD:1601338 NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200
JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202
JBrowse link
G HPCA hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 1:32,176,465...32,185,133
Ensembl chr 1:33,363,673...33,371,524
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442
JBrowse link
G LOC100971425 somatotropin ISO DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency
RGD
ClinVar
PMID:2752987 PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:27114065 PMID:28492532 RGD:12904703 RGD:1578505 NCBI chr17:58,010,848...58,013,421 JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668
JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism
Dwarfism, pituitary, generic
CTD
OMIA
PMID:245902 PMID:462708 PMID:642476 PMID:723236 PMID:838602 PMID:980693 PMID:1178442 PMID:2061865 PMID:2295557 PMID:4055523 PMID:4449724 PMID:6247812 PMID:8116157 PMID:9392392 PMID:9444634 PMID:9532423 PMID:10399248 PMID:10602989 PMID:10789512 PMID:11064220 PMID:11996393 PMID:12431796 PMID:16271735 PMID:16624355 PMID:21287722 PMID:22105877 PMID:22132174 PMID:25273400 PMID:25586673 PMID:33550451 NCBI chr 3:87,390,157...87,407,611
Ensembl chr 3:89,501,298...89,521,168
JBrowse link
G TG thyroglobulin ISO RGD PMID:3366187 PMID:11089535 RGD:12880373 RGD:730133 NCBI chr 8:129,519,431...129,789,699
Ensembl chr 8:132,495,516...132,764,918
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO OMIM NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648
JBrowse link
Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHMP2B charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:87,358,297...87,386,556
Ensembl chr 3:89,471,993...89,501,241
JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:87,390,157...87,407,611
Ensembl chr 3:89,501,298...89,521,168
JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHX3 LIM homeobox 3 ISO OMIM NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
JBrowse link
Combined Pituitary Hormone Deficiency, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741
JBrowse link
G LHX4 LIM homeobox 4 ISO OMIM NCBI chr 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802
JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHR growth hormone receptor ISO OMIM NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GHSR growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442
JBrowse link
G SPAG17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 1:84,339,906...84,571,723 JBrowse link
isolated growth hormone deficiency type IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA2 BRCA2 DNA repair associated ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:24389050 PMID:25558065 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CRIPT CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: PITUITARY DWARFISM I
ClinVar Annotator: match by term: Primordial dwarfism
ClinVar PMID:24389050 PMID:25558065 NCBI chr2A:46,732,683...46,740,589
Ensembl chr2A:47,663,304...47,671,463
JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: Primordial dwarfism
RGD
ClinVar
PMID:24389050 PMID:25558065 RGD:8694132 NCBI chr10:64,898,024...64,956,541
Ensembl chr10:67,207,261...67,264,257
JBrowse link
G LOC100971425 somatotropin ISO OMIM NCBI chr17:58,010,848...58,013,421 JBrowse link
G POC1A POC1 centriolar protein A ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:22840364 PMID:25558065 PMID:25741868 NCBI chr 3:52,016,372...52,096,073
Ensembl chr 3:53,245,162...53,324,579
JBrowse link
G XRCC4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 5:31,927,463...32,202,394
Ensembl chr 5:32,246,320...32,521,490
JBrowse link
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: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 PMID:10944436 PMID:10946881 PMID:11232012 PMID:11298081 PMID:11443201 PMID:11502843 PMID:11875102 PMID:12163232 PMID:12181638 PMID:12414875 PMID:12788864 PMID:12794696 PMID:16284391 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:19622623 PMID:21044116 PMID:22489751 PMID:25541890 PMID:25741868 PMID:28492532 NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200
JBrowse link
G LOC100971425 somatotropin ISO OMIM NCBI chr17:58,010,848...58,013,421 JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100971425 somatotropin ISO OMIM NCBI chr17:58,010,848...58,013,421 JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO OMIM NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187
JBrowse link
Isolated Growth Hormone Deficiency Type V term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNPC3 RNA binding region (RNP1, RRM) containing 3 ISO OMIM NCBI chr 1:106,189,351...106,219,302
Ensembl chr 1:105,323,791...105,349,892
JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GHSR growth hormone secretagogue receptor ISO OMIM NCBI chr 3:169,448,217...169,458,602
Ensembl chr 3:177,633,039...177,638,202
JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100971425 somatotropin ISO OMIM NCBI chr17:58,010,848...58,013,421 JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human)
ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
RGD
ClinVar
PMID:8826446 PMID:12428212 RGD:11535974 NCBI chr  X:129,654,296...129,656,446 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13787
    disease of anatomical entity 13439
      endocrine system disease 4946
        Endocrine Bone Diseases 84
          isolated growth hormone deficiency 25
            Alazami Syndrome 1
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Combined Pituitary Hormone Deficiency, 2 3
            Combined Pituitary Hormone Deficiency, 3 1
            Combined Pituitary Hormone Deficiency, 4 2
            Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
            Idiopathic Short Stature, Autosomal 4
            Isolated Growth Hormone Deficiency Type V 1
            Isolated Growth Hormone Deficiency, Partial 1
            Kowarski Syndrome 1
            Pituitary Dwarfism with Large Sella Turcica 0
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
            isolated growth hormone deficiency type IA 6
            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 13787
    disease of anatomical entity 13439
      nervous system disease 11176
        central nervous system disease 9788
          brain disease 9192
            thalamic disease 185
              hypothalamic disease 185
                pituitary gland disease 132
                  hypopituitarism 38
                    isolated growth hormone deficiency 25
                      Alazami Syndrome 1
                      CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                      Combined Pituitary Hormone Deficiency, 2 3
                      Combined Pituitary Hormone Deficiency, 3 1
                      Combined Pituitary Hormone Deficiency, 4 2
                      Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                      Idiopathic Short Stature, Autosomal 4
                      Isolated Growth Hormone Deficiency Type V 1
                      Isolated Growth Hormone Deficiency, Partial 1
                      Kowarski Syndrome 1
                      Pituitary Dwarfism with Large Sella Turcica 0
                      X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
                      isolated growth hormone deficiency type IA 6
                      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