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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
 broad_synonym: MKKS-RELATED CONDITION
 primary_id: MESH:C538159
 alt_id: MIM:236700
 xref: GARD:3427;   ORDO:2473


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation | ClinVar Annotator: match by term: MKKS-related condition | ClinVar Annotator: match by term: McKusick-Kaufman syndrome		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10802661 PMID:10973251 PMID:11179009 PMID:11567139 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        Female Urogenital Diseases and Pregnancy Complications 2652
          Female Urogenital Diseases 2178
            female reproductive system disease 2175
              vaginal disease 32
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root