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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:Combined Pituitary Hormone Deficiency, 6
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Accession:DOID:9005891 term browser browse the term
Synonyms:exact_synonym: COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT;   CPHD6
 primary_id: OMIM:613986
 alt_id: RDO:9000648
For additional species annotation, visit the Alliance of Genome Resources.


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Combined Pituitary Hormone Deficiency, 6 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: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by OMIM:613986
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 6
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant
ClinVar
OMIM
PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
Ensembl chr15:25,502,019...25,505,691
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      endocrine system disease 5792
        pituitary gland disease 171
          hypopituitarism 46
            panhypopituitarism 10
              Combined Pituitary Hormone Deficiency, 6 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            thalamic disease 226
              hypothalamic disease 226
                pituitary gland disease 171
                  hypopituitarism 46
                    panhypopituitarism 10
                      Combined Pituitary Hormone Deficiency, 6 3
paths to the root