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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: CPHD1;   combined or isolated pituitary hormone deficiency 1;   combined pituitary hormone deficiency, dominant/recessive
 primary_id: MESH:C567803
 alt_id: OMIM:613038
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 chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
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 chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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 More... NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      hypothyroidism 158
        Combined Pituitary Hormone Deficiency, 1 6
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hypopituitarism 46
                    panhypopituitarism 10
                      Combined Pituitary Hormone Deficiency, 1 6
paths to the root