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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 III
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Accession:DOID:0060875 term browser browse the term
Definition:An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO)
Synonyms:exact_synonym: Agammaglobulinemia and isolated growth hormone deficiency, X-linked;   Fleisher syndrome;   Growth Hormone Deficiency with Hypogammaglobulinemia;   Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked;   IGHD III;   IGHD3;   Isolated growth hormone deficiency, type 3;   Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia;   X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY;   X-linked IGHD;   X-linked isolated growth hormone deficiency;   congenital IGHD type III;   congenital isolated GH deficiency type III;   congenital isolated growth hormone deficiency type III
 primary_id: MESH:C537149
 alt_id: OMIM:307200;   RDO:0002930
 xref: GARD:3921;   ORDO:231692


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isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,670,773...82,681,890
Ensembl chr  X:82,671,561...82,684,002 		JBrowse link
G ARMCX1 armadillo repeat containing X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,132,775...83,136,924
Ensembl chr  X:83,132,792...83,136,917 		JBrowse link
G ARMCX2 armadillo repeat containing X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,213,939...83,218,601
Ensembl chr  X:83,213,947...83,224,391 		JBrowse link
G ARMCX3 armadillo repeat containing X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,187,939...83,192,693
Ensembl chr  X:83,187,979...83,197,532 		JBrowse link
G ARMCX4 armadillo repeat containing X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,092,592...83,130,725
Ensembl chr  X:83,092,697...83,103,834 		JBrowse link
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency OMIM
ClinVar		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G CENPI centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,776,375...82,826,651
Ensembl chr  X:82,776,447...82,825,655 		JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,508,739...82,540,861
Ensembl chr  X:82,508,736...82,540,863 		JBrowse link
G DRP2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,871,901...82,925,889
Ensembl chr  X:82,872,197...82,925,883 		JBrowse link
G GLA galactosidase alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,032,525...83,038,369
Ensembl chr  X:83,032,621...83,038,361 		JBrowse link
G LOC100153087 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,338,757...83,361,973 JBrowse link
G LOC100520992 protein ARMCX6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,179,741...83,182,711
Ensembl chr  X:83,179,753...83,182,679 		JBrowse link
G NOX1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,540,664...82,575,811
Ensembl chr  X:82,540,667...82,586,532 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652 		JBrowse link
G RPL36A ribosomal protein L36a ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:83,018,305...83,022,285
Ensembl chr  X:83,018,141...83,022,283 		JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,336,741...82,363,868
Ensembl chr  X:82,336,744...82,363,867 		JBrowse link
G SYTL4 synaptotagmin like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,367,546...82,437,439
Ensembl chr  X:82,367,549...82,437,401 		JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,930,258...82,951,065
Ensembl chr  X:82,930,266...82,951,224 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		JBrowse link
G TMEM35A transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,761,552...82,774,952
Ensembl chr  X:82,761,589...82,774,951 		JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,269,323...82,292,083
Ensembl chr  X:82,269,239...82,292,246 		JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,638,456...82,741,659
Ensembl chr  X:82,690,392...82,735,521 		JBrowse link
G TSPAN6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,323,634...82,328,919
Ensembl chr  X:82,323,624...82,328,903 		JBrowse link
G XKRX XK related X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:82,614,592...82,630,188
Ensembl chr  X:82,610,758...82,630,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      hematopoietic system disease 3134
        blood protein disease 564
          agammaglobulinemia 283
            isolated growth hormone deficiency type III 25
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            hypothalamic disease 467
              pituitary gland disease 239
                hypopituitarism 73
                  isolated growth hormone deficiency 50
                    isolated growth hormone deficiency type III 25
paths to the root