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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:Blue Diaper Syndrome
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Accession:DOID:9007307 term browser browse the term
Synonyms:exact_synonym: Drummond syndrome;   familial hypercalcemia with nephrocalcinosis and indicanuria;   familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
 primary_id: MESH:C536239
 alt_id: OMIM:211000
 xref: GARD:5939;   ORDO:94086


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Blue Diaper Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13342
      Signs and Symptoms 10818
        Neurologic Manifestations 10052
          sensory system disease 6960
            eye disease 3490
              Eye Abnormalities 781
                Blue Diaper Syndrome 0
paths to the root