Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/D011547
http://purl.bioontology.org/ontology/MESH/D011547
Preferred Name

Pseudohypoparathyroidism

Definitions
A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN. A syndrome characterized by variable features such as short stature, obesity, round face, subcutaneous ossifications, and BRACHYDACTYLY. It is associated with resistance to PARATHYROID HORMONE and THYROTROPIN. The autosomal dominant inherited form (PSEUDOHYPOPARATHYROIDISM, TYPE IA) is caused by mutations in the GNAS gene. OMIM: 103580.
Synonyms
Hereditary Osteodystrophy, Albright
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
Pseudohypoparathyroidisms, Type Ia
PHD Ib
Albright Hereditary Osteodystrophy
Pseudohypoparathyroidism, Type Ib
Type Ia Pseudohypoparathyroidism
Type Ib Pseudohypoparathyroidisms
Type Ib Pseudohypoparathyroidism
Type Ia Pseudohypoparathyroidisms
PHPIa
Osteodystrophy, Albright Hereditary
Pseudohypoparathyroidism Type 1Bs
Pseudohypoparathyroidism Type 1B
PHD1b
Pseudohypoparathyroidisms
Pseudohypoparathyroidism, Type Ia
PHP Ia
Pseudohypoparathyroidisms, Type Ib
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