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loading...| Preferred Name | otopalatodigital syndrome type 1 | |
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| Definitions |
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111783 |
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| definition |
An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28. |
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| label |
otopalatodigital syndrome type 1 |
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| prefixIRI |
DOID:0111783 |
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| prefLabel |
otopalatodigital syndrome type 1 |
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| subClassOf |
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