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Term:McKusick-Kaufman syndrome
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Accession:DOID:0111255 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HMCS;   MKKS;   hydrometrocolpos syndrome;   hydrometrocolpos, postaxial polydactyly, and congenital heart malformation;   hydrometrocolpos-postaxial polydactyly syndrome
 primary_id: MESH:C538159
 alt_id: DOID:9008070;   OMIM:236700;   RDO:0004096
 xref: GARD:3427;   ORDO:2473
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McKusick-Kaufman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mkks McKusick-Kaufman syndrome JBrowse link 3 129,866,542 129,885,213 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Urogenital Diseases 3965
        Female Urogenital Diseases and Pregnancy Complications 1718
          Female Urogenital Diseases 1460
            female reproductive system disease 1456
              vaginal disease 7
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.