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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 chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      endocrine system disease 7044
        pituitary gland disease 276
          hypopituitarism 76
            combined pituitary hormone deficiency 14
              combined or isolated pituitary hormone deficiency 8 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            hypothalamic disease 511
              pituitary gland disease 276
                hypopituitarism 76
                  combined pituitary hormone deficiency 14
                    combined or isolated pituitary hormone deficiency 8 1
paths to the root