loading...| Preferred Name |
McCune Albright syndrome |
|
| Synonyms |
polyostotic fibrous dysplasia |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_1858 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
ICD10CM:Q78.1 UMLS_CUI:C0016065 MESH:D005359 SNOMEDCT_US_2023_03_01:205508003 OMIM:174800 ICD9CM:756.54 GARD:6995 NCI:C34610 |
|
| definition |
A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. |
|
| has exact match |
MESH:D005359 |
|
| has exact synonym |
polyostotic fibrous dysplasia osteitis fibrosa disseminata fibrous dysplasia of bone |
|
| has material basis in | ||
| has_alternative_id |
DOID:11345 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:1858 |
|
| in_subset | ||
| label |
McCune Albright syndrome |
|
| notation |
DOID:1858 |
|
| prefLabel |
McCune Albright syndrome |
|
| subClassOf |