OBO ID: DOID:0111255
Term Name: McKusick-Kaufman syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0111255)
OTHER McKusick-Kaufman syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MKKS McKusick-Kaufman syndrome 236700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None