Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:McKusick-Kaufman syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15348
    syndrome 4821
      McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 15348
    disease of anatomical entity 14661
      Urogenital Diseases 3929
        Female Urogenital Diseases and Pregnancy Complications 1707
          Female Urogenital Diseases 1453
            female reproductive system disease 1449
              vaginal disease 7
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root

NHLBI Logo

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