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loading...| Preferred Name |
Muenke Syndrome |
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| Synonyms |
FGFR3-Related Craniosynostosis Muenke Syndrome |
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| Definitions |
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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904 |
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| code |
C84904 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| 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. |
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| FULL_SYN |
FGFR3-Related Craniosynostosis Muenke Syndrome |
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| label |
Muenke Syndrome |
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| Preferred_Name |
Muenke Syndrome |
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| prefixIRI |
Thesaurus:C84904 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1864436 |
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| subClassOf |
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