Search Ontology:
Human Disease

pseudohypoparathyroidism

Term ID
DOID:4184
Synonyms
  • PHP
Definition
A metal metabolism disorder that is characterized by end-organ resistance to parathyroid hormone and/or a constellation of symptoms collectively termed Albright’s hereditary osteodystrophy, which include shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, and rounded face. (4)
References
  • GARD:10758
  • ICD10CM:E20.1
  • MESH:D011547
  • NCI:C99027
  • SNOMEDCT_US_2023_03_01:190867002
  • UMLS_CUI:C0033806
Ontology
Human Disease   ( DOID:4184 )
Relationships
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Genes Involved
Zebrafish Models