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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C84904
http://purl.obolibrary.org/obo/NCIT_C84904
|
|---|---|
| Preferred Name | Muenke Syndrome |
| 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
|
| prefLabel |
Muenke Syndrome
|
| in_subset | |
| Preferred_Name |
Muenke Syndrome
|
| UMLS_CUI |
C1864436
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| prefixIRI |
NCIT:C84904
|
| Contributing_Source |
Cellosaurus
|
| subClassOf | |
| code |
C84904
|
| type | |
| Semantic_Type |
Disease or Syndrome
|
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