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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:Idiopathic Short Stature, Autosomal
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Accession:DOID:9007303 term browser browse the term
Synonyms:exact_synonym: GHIP;   GROWTH HORMONE INSENSITIVITY, PARTIAL;   Growth Hormone, Insensitivity To, Partial;   partial isolated growth hormone deficiency
 primary_id: MESH:C565805
 alt_id: OMIM:604271
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
ClinVar Annotator: match by OMIM:604271
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:9140387 PMID:9814495 PMID:10984309 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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 chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      endocrine system disease 5808
        Endocrine Bone Diseases 90
          isolated growth hormone deficiency 31
            Idiopathic Short Stature, Autosomal 4
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            thalamic disease 225
              hypothalamic disease 225
                pituitary gland disease 170
                  hypopituitarism 46
                    isolated growth hormone deficiency 31
                      Idiopathic Short Stature, Autosomal 4
paths to the root