JSON

pseudohypoparathyroidism

^ http://purl.obolibrary.org/obo/MONDO_0019992

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). [ Orphanet:97593 ]

Term info

database cross reference
  • UMLS:C0033806 (Orphanet:97593/e)
  • ICD9:275.49 (MONDO:relatedTo)
  • MedDRA:10037126 (Orphanet:97593/e)
  • Orphanet:97593 (MONDO:equivalentTo)
  • SCTID:58976002 (MONDO:equivalentTo)
  • NCIT:C99027 (MONDO:equivalentTo)
  • MESH:D011547 (Orphanet:97593/e)
  • ICD10CM:E20.1 (Orphanet:97593/specific)
  • DOID:4184 (MONDO:equivalentTo)
  • GARD:0010758 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10037126

definition

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).

exactMatch

http://linkedlifedata.com/resource/umls/id/C0033806, http://purl.obolibrary.org/obo/Orphanet_97593, http://identifiers.org/mesh/D011547, http://identifiers.org/snomedct/58976002, http://purl.obolibrary.org/obo/NCIT_C99027, http://purl.obolibrary.org/obo/DOID_4184, http://purl.bioontology.org/ontology/ICD10CM/E20.1

id

MONDO:0019992

seeAlso

https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism