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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, 2
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Accession:DOID:9008340 term browser browse the term
Synonyms:exact_synonym: COMBINED PITUITARY HORMONE DEFICIENCY TYPE 2;   COMBINED PITUITARY HORMONE DEFICIENCY, RECESSIVE;   CPHD2;   Hanhart Dwarfism;   ateliotic dwarfism with hypogonadism;   pituitary dwarfism III
 primary_id: MESH:C563172
 alt_id: OMIM:262600


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Combined Pituitary Hormone Deficiency, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:65,336,014...65,359,648
Ensembl chr16:65,336,014...65,359,612 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		JBrowse link
G Prop1 paired like homeodomain factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2		 OMIM
CTD
ClinVar		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr11:50,841,633...50,844,584
Ensembl chr11:50,841,633...50,844,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      endocrine system disease 6290
        Endocrine Bone Diseases 357
          isolated growth hormone deficiency 53
            Combined Pituitary Hormone Deficiency, 2 4
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            hypothalamic disease 480
              pituitary gland disease 249
                hypopituitarism 76
                  panhypopituitarism 9
                    Combined Pituitary Hormone Deficiency, 2 4
paths to the root