JSON

familial hypoparathyroidism

^ 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 ]

Term info

database cross reference
  • GARD:0002910 (MONDO:equivalentTo)
  • SCTID:725036000 (MONDO:equivalentTo)
  • MESH:C537156 (Orphanet:2238/e)
  • Orphanet:2238 (MONDO:equivalentTo)
  • UMLS:C1832648 (Orphanet:2238/e)
  • DOID:0111387 (MONDO:equivalentTo)
  • OMIMPS:146200 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
FIH [ OMIM:146200 ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2238, http://linkedlifedata.com/resource/umls/id/C1832648, http://purl.obolibrary.org/obo/DOID_0111387, https://omim.org/phenotypicSeries/PS146200, http://identifiers.org/snomedct/725036000, http://identifiers.org/mesh/C537156

excluded subClassOf

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

has exact synonym

hypoparathyroidism, familial isolated, hypoparathyroidism, familial, hypoparathyroidism familial isolated, FIH, familial isolated hypoparathyroidism

id

MONDO:0016390