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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Jackson-Weiss Syndrome | |
| Synonyms |
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| Definitions |
A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C123814 |
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| code |
C123814
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| Contributing_Source |
Cellosaurus
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| definition |
A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal.
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| in_subset | ||
| label |
Jackson-Weiss Syndrome
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| Preferred_Name |
Jackson-Weiss Syndrome
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| prefixIRI |
NCIT:C123814
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| prefLabel |
Jackson-Weiss Syndrome
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0795998
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| subClassOf |
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