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Human Disease

McKusick-Kaufman syndrome

Term ID
DOID:0111255
Synonyms
  • 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
  • GARD:3427
  • MEDDRA:10052312
  • MESH:C538159
  • MIM:236700
  • ORDO:2473
  • SNOMEDCT_US_2023_03_01:702407009
  • UMLS_CUI:C0948368
Ontology
Human Disease   ( DOID:0111255 )
Relationships
is a type of
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Genes Involved
Zebrafish Models