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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, 3
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Accession:DOID:9004924 term browser browse the term
Synonyms:exact_synonym: CPHD3;   Sensorineural deafness with Pituitary dwarfism;   Winkelman Bethge Pfeiffer syndrome;   combined pituitary hormone deficiency with rigid cervical spine
 primary_id: MESH:C536710
 alt_id: OMIM:221750
For additional species annotation, visit the Alliance of Genome Resources.



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Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar
PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      bone development disease 1760
        Dwarfism 692
          isolated growth hormone deficiency 31
            Combined Pituitary Hormone Deficiency, 3 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            thalamic disease 310
              hypothalamic disease 310
                pituitary gland disease 173
                  hypopituitarism 46
                    isolated growth hormone deficiency 31
                      Combined Pituitary Hormone Deficiency, 3 1
paths to the root