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loading...| Preferred Name |
acrofacial dysostosis |
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| Synonyms |
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| Definitions |
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060379 |
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| definition |
A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. |
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| imported from | ||
| label |
acrofacial dysostosis |
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| prefixIRI |
DOID:0060379 |
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| prefLabel |
acrofacial dysostosis |
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| subClassOf |
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