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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Jackson-Weiss syndrome | |
| Synonyms |
craniosynostosis, midfacial hypoplasia, and foot abnormalities craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Jackson-Weiss syndrome JWS |
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| Definitions |
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007400 |
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| altLabel |
craniosynostosis, midfacial hypoplasia, and foot abnormalities craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Jackson-Weiss syndrome JWS
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| definition |
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
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| has_exact_synonym |
craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Jackson-Weiss syndrome JWS
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| has_related_synonym |
craniosynostosis, midfacial hypoplasia, and foot abnormalities
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| label |
Jackson-Weiss syndrome
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| prefixIRI |
MONDO:0007400
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| prefLabel |
Jackson-Weiss syndrome
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome |
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| textual definition |
Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.
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