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Disease Ontology Browser
McKusick-Kaufman syndrome (DOID:0111255)
Alliance: disease page
Synonyms: HMCS; hydrometrocolpos syndrome; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; hydrometrocolpos-postaxial polydactyly syndrome; Kaufman McKusick syndrome; MKKS
Alt IDs: OMIM:236700, MESH:C538159, ORDO:2473, UMLS_CUI:C0948368
Definition: An autosomal recessive disease 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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/04/2020
MGI 6.14
The Jackson Laboratory