Visualize Submit Comment
Metadata
ID DOID:0080222
Name pseudohypoparathyroidism type IB
Definition A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32.
https://www.ncbi.nlm.nih.gov/pubmed/6301273, https://www.ncbi.nlm.nih.gov/pubmed/6325502
Xrefs

GARD:10680

MESH:C548075

MIM:603233

ORDO:94089

Subsets

DO_rare_slim

Parent Relationships

is_a pseudohypoparathyroidism

Add an item to the term tracker