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familial hypoparathyroidism

Go to external page http://purl.obolibrary.org/obo/MONDO_0016390

A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. [ Orphanet:2238 ]

Synonyms: hypoparathyroidism, familial isolated hypoparathyroidism, familial hypoparathyroidism familial isolated FIH familial isolated hypoparathyroidism

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1128 (MONDO:NORD)
  • Orphanet:2238 (MONDO:equivalentTo)
  • MESH:C537156 (Orphanet:2238/e)
  • SCTID:725036000 (MONDO:equivalentTo)
  • OMIMPS:146200 (MONDO:equivalentTo)
  • UMLS:C1832648 (Orphanet:2238/e)
  • DOID:0111387 (MONDO:equivalentTo)
  • GARD:2910 (Orphanet:2238)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C1832648

http://purl.obolibrary.org/obo/DOID_0111387

http://www.orpha.net/ORDO/Orphanet_2238

https://omim.org/phenotypicSeries/PS146200

http://identifiers.org/snomedct/725036000

http://identifiers.org/mesh/C537156

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020280

id

MONDO:0016390