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Human Disease
McKusick-Kaufman syndrome
- Term ID
- DOID:0111255
- Synonyms
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- HMCS
- hydrometrocolpos syndrome
- hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
- hydrometrocolpos-postaxial polydactyly syndrome
- Kaufman McKusick syndrome
- MKKS
- 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)
- References
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- GARD:3427
- MEDDRA:10052312
- MESH:C538159
- MIM:236700
- ORDO:2473
- SNOMEDCT_US_2023_03_01:702407009
- UMLS_CUI:C0948368
- Ontology
- Human Disease ( DOID:0111255 )
- is a type of
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Genes Involved
Zebrafish Models