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blue diaper syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008877

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. [ Orphanet:94086 ]

Term info

database cross reference
  • UMLS:C0268478 (Orphanet:94086/e)
  • OMIM:211000 (Orphanet:94086/e)
  • MESH:C536239 (Orphanet:94086/e)
  • SCTID:59531002 (MONDO:equivalentTo)
  • GARD:0005939 (MONDO:equivalentTo)
  • Orphanet:94086 (OMIM:211000)
Subsets

gard_rare, ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

definition

Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria.

exactMatch

http://identifiers.org/mesh/C536239, http://linkedlifedata.com/resource/umls/id/C0268478, http://purl.obolibrary.org/obo/Orphanet_94086, https://omim.org/entry/211000, http://identifiers.org/snomedct/59531002

has exact synonym

Drummond syndrome, blue diaper syndrome, familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

has related synonym

hypercalcemia, familial, with nephrocalcinosis and indicanuria

id

MONDO:0008877

seeAlso

https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome

Term relations