Preferred Name |
McCune-Albright syndrome |
|
Synonyms |
MAS |
|
Definitions |
(MAS) - Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. |
|
ID |
http://identifiers.org/omim/174800 |
|
altLabel |
MAS |
|
definition |
(MAS) - Characterized by polyostotic fibrous dysplasia, cafe-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and hyperprolactinemia. The mutations producing MAS lead to constitutive activation of GS alpha. |
|
id |
OMIM:174800 |
|
notation |
OMIM:174800 |
|
prefLabel |
McCune-Albright syndrome |
|
subClassOf |
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