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autosomal dominant hypocalcemia

Go to external page http://purl.obolibrary.org/obo/MONDO_0018543

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. [ Orphanet:428 ]

Synonyms: AD hypocalcemia hypocalcemia, autosomal dominant

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:711152006 (MONDO:equivalentTo)
  • DOID:0090109 (MONDO:equivalentTo)
  • OMIMPS:601198 (MONDO:equivalentTo)
  • Orphanet:428 (MONDO:equivalentTo)
  • UMLS:C4048195 (MONDO:equivalentTo)
  • GARD:2877 (Orphanet:428)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare

exactMatch

http://purl.obolibrary.org/obo/DOID_0090109

https://omim.org/phenotypicSeries/PS601198

http://www.orpha.net/ORDO/Orphanet_428

http://linkedlifedata.com/resource/umls/id/C4048195

http://identifiers.org/snomedct/711152006

has broad synonym

hypocalcemia

id

MONDO:0018543

seeAlso

https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant