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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
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 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:180,269,663...180,502,577
Ensembl chr 1:180,269,653...180,502,954
JBrowse link
G LHX4 LIM homeobox 4 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:180,228,372...180,278,984
Ensembl chr 1:180,230,264...180,278,984
JBrowse link
G LHX4-AS1 LHX4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:180,269,663...180,274,681
Ensembl chr 1:180,269,653...180,502,954
JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 6
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6
ClinVar
OMIM
PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 PMID:28166811 More... NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20259
    disease of anatomical entity 18860
      endocrine system disease 6056
        pituitary gland disease 153
          hypopituitarism 49
            panhypopituitarism 12
              Combined Pituitary Hormone Deficiency, 6 4
Path 2
Term Annotations click to browse term
  disease 20259
    disease of anatomical entity 18860
      nervous system disease 14840
        central nervous system disease 13016
          brain disease 12234
            thalamic disease 211
              hypothalamic disease 211
                pituitary gland disease 153
                  hypopituitarism 49
                    panhypopituitarism 12
                      Combined Pituitary Hormone Deficiency, 6 4
paths to the root