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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:McKusick-Kaufman syndrome
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Accession:DOID:0111255 term browser browse the term
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. (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: OMIM:236700
 xref: GARD:3427;   ORDO:2473
For additional species annotation, visit the Alliance of Genome Resources.


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McKusick-Kaufman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by OMIM:236700
ClinVar Annotator: match by term: McKusick Kaufman syndrome
ClinVar Annotator: match by term: McKusick-Kaufman syndrome
OMIM
ClinVar
PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:18094050 PMID:20080638 PMID:20177705 PMID:20472660 PMID:20498079 PMID:22446187 PMID:22500027 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:29127258 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      Urogenital Diseases 4335
        Female Urogenital Diseases and Pregnancy Complications 2040
          Female Urogenital Diseases 1736
            female reproductive system disease 1732
              vaginal disease 31
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root