About   Help   FAQ
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: 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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory