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pseudohypoparathyroidism type 2

^ http://purl.obolibrary.org/obo/MONDO_0008749

Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. [ Orphanet:94090 ]

Term info

database cross reference
  • UMLS:CN206737 (MONDO:equivalentTo)
  • Orphanet:94090 (OMIM:203330)
  • GARD:0010682 (MONDO:equivalentTo)
  • ICD9:275.49 (MONDO:relatedTo)
  • SCTID:42183005 (MONDO:equivalentTo)
  • UMLS:C2932717 (Orphanet:94090/e)
  • MESH:C548077 (Orphanet:94090/e)
  • OMIM:203330 (Orphanet:94090/e)
Subsets

gard_rare, ordo_disease

abbreviation
PHP2 [ MONDO:Lexical OMIM:203330 ]

definition

Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2932717, http://identifiers.org/snomedct/42183005, http://purl.obolibrary.org/obo/Orphanet_94090, http://linkedlifedata.com/resource/umls/id/CN206737, http://identifiers.org/mesh/C548077, https://omim.org/entry/203330

has related synonym

Php 2, PHP II, pseudohypoparathyroidism, type II, PHP2

id

MONDO:0008749

seeAlso

https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2

Term relations