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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, 4
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Accession:DOID:9008403 term browser browse the term
Synonyms:exact_synonym: CPHD4;   combined pituitary hormone deficiency with or without cerebellar defects;   short stature, pituitary and cerebellar defects, and small sella turcica
 primary_id: MESH:C567492
 alt_id: OMIM:262700
For additional species annotation, visit the Alliance of Genome Resources.



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Combined Pituitary Hormone Deficiency, 4 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 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 More... NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by OMIM:262700
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
OMIM
ClinVar
PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 More... NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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, 4 2
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
                    isolated growth hormone deficiency 31
                      Combined Pituitary Hormone Deficiency, 4 2
paths to the root