Metadata | |
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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 |
SNOMEDCT_US_2023_03_01:190867002 |
SKOS |
exactMatch MESH:D011547 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
PHP [EXACT] |
Parent Relationships |