OBO ID: DOID:0111255 |
Term Name: | McKusick-Kaufman syndrome | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0111255 ) |
OTHER McKusick-Kaufman syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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