Preferred Name |
McCune-Albright Syndrome |
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Synonyms |
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Definitions |
A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. |
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ID |
http://purl.obolibrary.org/obo/NCIT_C48627 |
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ALT_DEFINITION |
A syndrome caused by activating somatic mutation(s) in the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This syndrome is characterized most commonly by irregular (coast of Maine) cafe-au-lait skin pigmentation, polyostotic fibrous dysplasia, and gonadotropin-independent precocious puberty due to primary gonadal hyperfunction. Other clinical features may include hyperthyroidism, goiter, thyroid nodules, hyperadrenocorticolism, growth hormone excess, and phosphate wasting. |
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code |
C48627 |
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Contributing_Source |
NICHD PCDC |
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definition |
A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. |
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in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C179491 |
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label |
McCune-Albright Syndrome |
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Legacy Concept Name |
McCune-Albright_Syndrome |
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Preferred_Name |
McCune-Albright Syndrome |
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prefixIRI |
NCIT:C48627 |
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prefLabel |
McCune-Albright Syndrome |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0242292 |
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subClassOf |