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loading...| Preferred Name |
Muenke Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904 |
| code |
C84904 |
| DEFINITION |
A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes. |
| label |
Muenke Syndrome |
| Preferred_Name |
Muenke Syndrome |
| prefixIRI |
C84904 |
| prefLabel |
Muenke Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C1864436 |
| subClassOf |