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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;   Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine;   Sensorineural deafness with Pituitary dwarfism;   Winkelman Bethge Pfeiffer syndrome
 primary_id: MESH:C536710
 alt_id: OMIM:221750;   RDO:0002369
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 OMIM:221750
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 3
ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
OMIM
ClinVar
PMID:10835633 PMID:12780757 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:25741868 PMID:28492532 NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        Endocrine Bone Diseases 87
          isolated growth hormone deficiency 31
            Combined Pituitary Hormone Deficiency, 3 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            thalamic disease 219
              hypothalamic disease 219
                pituitary gland disease 170
                  hypopituitarism 45
                    isolated growth hormone deficiency 31
                      Combined Pituitary Hormone Deficiency, 3 1
paths to the root