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hyperparathyroidism 2 with jaw tumors

Go to external page http://purl.obolibrary.org/obo/MONDO_0007768

An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. [ ]

Term info

Label

hyperparathyroidism 2 with jaw tumors

Synonyms
  • HPT-JT
  • hyperparathyroidism 2 with jaw tumors
  • hyperparathyroidism type 2
  • hyperparathyroidism-2
  • hyperparathyroidism-jaw tumor syndrome
  • parathyroid adenoma with cystic changes
database cross reference
Subsets

gard_rare, ordo_disease

exactMatch

http://identifiers.org/snomedct/702378002, https://omim.org/entry/145001, http://purl.obolibrary.org/obo/Orphanet_99880, http://linkedlifedata.com/resource/umls/id/C1704981, http://purl.obolibrary.org/obo/NCIT_C48287

has related synonym

hereditary hyperparathyroidism-jaw tumor syndrome, parathyroid adenomatosis, familial cystic, hyperparathyroidism 2, familial primary hyperparathyroidism with multiple ossifying jaw fibromas, HRPT2, hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas, hyperparathyroidism-jaw tumor syndrome, hereditary

id

MONDO:0007768

narrowMatch

https://icd.codes/icd10cm/E21.0

see also

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948, https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome