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isolated growth hormone deficiency type II - Ontology Report - Rat Genome Database

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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 II
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Accession:DOID:0060872 term browser browse the term
Definition:An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)
Synonyms:exact_synonym: IGHD II;   IGHD2;   Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant;   congenital IGHD type II;   congenital isolated GH deficiency type II;   congenital isolated growth hormone deficiency type II;   isolated growth hormone deficiency, autosomal dominant
 primary_id: MESH:C562704
 alt_id: MIM:173100
 xref: ORDO:231679

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isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M Gh growth hormone ISO
IAGP		 ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM:173100		 OMIM
ClinVar
CTD
MouseDO		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G H GH-LCR growth hormone locus control region IAGP ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant		 ClinVar PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:63,917,193...63,958,852 JBrowse link
G R Gh1 growth hormone 1 ISO
ISS		 ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
OMIM:173100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G H GH1 growth hormone 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
OMIM:173100
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G B LOC100971425 somatotropin ISO ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant OMIM
ClinVar		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067 		JBrowse link
G S LOC101969021 somatotropin ISO ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant OMIM
ClinVar		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G N Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004624871:1,886,650...1,983,165
Ensembl chrNW_004624871:1,886,688...1,980,105 		JBrowse link
G G MED13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr16:33,163,032...33,285,385
Ensembl chr16:33,162,852...33,285,445 		JBrowse link
G P MED13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr12:36,333,741...36,430,740
Ensembl chr12:36,333,191...36,429,291 		JBrowse link
G S Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004936490:3,204,717...3,293,458
Ensembl chrNW_004936490:3,202,827...3,293,458 		JBrowse link
G D MED13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr 9:34,638,892...34,742,235
Ensembl chr 9:34,641,601...34,738,352 		JBrowse link
G B MED13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr17:56,044,769...56,165,922
Ensembl chr17:61,157,691...61,274,505 		JBrowse link
G C Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004955451:2,891,583...3,008,230
Ensembl chrNW_004955451:2,895,419...3,008,230 		JBrowse link
G R Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr10:71,584,354...71,674,614
Ensembl chr10:71,090,516...71,177,242 		JBrowse link
G M Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr11:86,157,859...86,248,422
Ensembl chr11:86,157,859...86,248,428 		JBrowse link
G H MED13 mediator complex subunit 13 IAGP ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      endocrine system disease 80498
        Endocrine Bone Diseases 3500
          isolated growth hormone deficiency 475
            isolated growth hormone deficiency type II 16
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            hypothalamic disease 4882
              pituitary gland disease 2524
                hypopituitarism 741
                  isolated growth hormone deficiency 475
                    isolated growth hormone deficiency type II 16
paths to the root