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loading...| Preferred Name | McKusick-Kaufman syndrome | |
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| Definitions |
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111255 |
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| definition |
A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. |
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| label |
McKusick-Kaufman syndrome |
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| prefixIRI |
DOID:0111255 |
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| prefLabel |
McKusick-Kaufman syndrome |
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| subClassOf |
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