OBO ID: DOID:0080222
Term Name: pseudohypoparathyroidism type IB Search Ontology:
Synonyms:
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. (2)
References:
Ontology: Human Disease   ( DOID:0080222 )
Relationships
is a type of:
OTHER pseudohypoparathyroidism type IB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNAS Pseudohypoparathyroidism Ib 603233
STX16 Pseudohypoparathyroidism Ib 603233
GNAS-AS1 Pseudohypoparathyroidism Ib
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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