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DOID:0111255 - McKusick-Kaufman syndrome
Disease Ontology 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.
Synonyms: HMCS, hydrometrocolpos, postaxial polydactyly, and congenital heart malformation, hydrometrocolpos-postaxial polydactyly syndrome, hydrometrocolpos syndrome, Kaufman McKusick syndrome, MKKS
Xenbase Genes
:
mkks
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)