FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term McKusick-Kaufman syndrome ID (Ontology) DOID:0111255 (Human Disease)
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.
Also Known As "HMCS" ; "hydrometrocolpos syndrome" ; "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 McKusick-Kaufman syndrome
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "HMCS" EXACT OMO:0003012
    "hydrometrocolpos syndrome" EXACT
    "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" EXACT
    "hydrometrocolpos-postaxial polydactyly syndrome" EXACT
    "Kaufman McKusick syndrome" EXACT
    "MKKS" EXACT OMO:0003012
Secondary IDs
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GARD:3427
MEDDRA:10052312
MESH:C538159
MIM:236700
ORDO:2473
SNOMEDCT_US_2023_03_01:702407009
UMLS_CUI:C0948368