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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:X-linked panhypopituitarism
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Accession:DOID:0111779 term browser browse the term
Definition:A panhypopituitarism that has_material_basis_in duplications in SOX3 on chromosome Xq27.1. (DO)
Synonyms:exact_synonym: PHPX;   pituitary dwarfism IV
 primary_id: MESH:C538613
 alt_id: OMIM:312000
 xref: GARD:6737
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by OMIM:312000 OMIM
ClinVar
PMID:15800844 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            X-linked monogenic disease 920
              X-linked panhypopituitarism 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            thalamic disease 195
              hypothalamic disease 195
                pituitary gland disease 150
                  hypopituitarism 44
                    panhypopituitarism 9
                      X-linked panhypopituitarism 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.