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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 or isolated pituitary hormone deficiency 8
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Accession:DOID:0061018 term browser browse the term
Definition:A combined pituitary hormone deficiency that has_material_basis_in heterozygous mutation in the ROBO1 gene on chromosome 3p12. (DO)
Synonyms:exact_synonym: CPHD8;   Combined Pituitary Hormone Deficiency 8
 alt_id: DOID:9005178
 xref: MIM:620303;   MONDO:00957208



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combined or isolated pituitary hormone deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 OMIM
ClinVar
PMID:25741868 PMID:28402530 PMID:31448886 NCBI chr11:24,067,869...25,108,694 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      endocrine system disease 7037
        pituitary gland disease 275
          hypopituitarism 75
            combined pituitary hormone deficiency 13
              combined or isolated pituitary hormone deficiency 8 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            hypothalamic disease 509
              pituitary gland disease 275
                hypopituitarism 75
                  combined pituitary hormone deficiency 13
                    combined or isolated pituitary hormone deficiency 8 1
paths to the root