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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, 1
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Accession:DOID:9005344 term browser browse the term
Synonyms:exact_synonym: COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT/RECESSIVE;   CPHD1
 primary_id: MESH:C567803
 alt_id: OMIM:613038;   RDO:0012046
For additional species annotation, visit the Alliance of Genome Resources.


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Combined Pituitary Hormone Deficiency, 1 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: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:21325470, PMID:23465708, PMID:24703149, PMID:25741868, PMID:28492532 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by OMIM:613038
OMIM
ClinVar
PMID:1271194, PMID:1302000, PMID:1472057, PMID:1509262, PMID:1509263, PMID:2634610, PMID:7670563, PMID:7721104, PMID:7833912, PMID:8768831, PMID:9392392, PMID:9588494, PMID:9626142, PMID:11222742, PMID:11297581, PMID:11924936, PMID:12629113, PMID:15928241, PMID:16968807, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      hypothyroidism 155
        Combined Pituitary Hormone Deficiency, 1 6
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            thalamic disease 195
              hypothalamic disease 195
                pituitary gland disease 150
                  hypopituitarism 44
                    panhypopituitarism 9
                      Combined Pituitary Hormone Deficiency, 1 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.