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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

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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 with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chrNW_004955406:19,481,640...19,658,807
Ensembl chrNW_004955406:19,481,640...19,658,806 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects | ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica OMIM
ClinVar		 PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chrNW_004955406:19,457,658...19,470,875 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Congenital Abnormalities 6946
          Multiple Abnormalities 3416
            Combined Pituitary Hormone Deficiency 4 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            hypothalamic disease 449
              pituitary gland disease 229
                hypopituitarism 66
                  Combined Pituitary Hormone Deficiency 7
                    Combined Pituitary Hormone Deficiency 4 2
paths to the root