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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;   LHX3-RELATED CONDITION;   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

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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: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chrNW_004936669:1,561,433...1,573,074
Ensembl chrNW_004936669:1,564,102...1,573,047 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      endocrine system disease 5609
        Endocrine Bone Diseases 338
          isolated growth hormone deficiency 50
            Combined Pituitary Hormone Deficiency, 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            Otorhinolaryngologic Diseases 1591
              auditory system disease 899
                Hearing Disorders 734
                  Hearing Loss 729
                    sensorineural hearing loss 550
                      Combined Pituitary Hormone Deficiency, 3 1
paths to the root