- Concept UI
- M0570744
- Scope Note
- 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.
- Terms
-
Pseudohypoparathyroidism, Type Ia
Preferred Term
Term UI
T817650
Date02/09/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
PHPIa
Term UI
T001009889
Date03/09/2020
LexicalTag
NON
ThesaurusID
NLM (2021)
-
Albright Hereditary Osteodystrophy
Term UI
T001009888
Date03/09/2020
LexicalTag
EPO
ThesaurusID
NLM (2021)
-
PHP Ia
Term UI
T817651
Date02/09/2012
LexicalTag
ABB
ThesaurusID
OMIM (2013)
-
Albright Hereditary Osteodystrophy with Multiple Hormone Resistance
Term UI
T817653
Date02/09/2012
LexicalTag
EPO
ThesaurusID
ORD (2010)