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Metadata
ID DOID:4184
Name pseudohypoparathyroidism
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.
https://pubmed.ncbi.nlm.nih.gov/27401862/, https://www.chop.edu/conditions-diseases/pseudohypoparathyroidism-php, https://www.ncbi.nlm.nih.gov/books/NBK279165/, https://www.ncbi.nlm.nih.gov/sites/books/NBK559141/
Xrefs

GARD:10758

ICD10CM:E20.1

MESH:D011547

NCI:C99027

SNOMEDCT_US_2023_03_01:190867002

UMLS_CUI:C0033806

SKOS

exactMatch MESH:D011547

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

PHP [EXACT]

Parent Relationships

is_a metal metabolism disorder

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