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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 McKusick-Kaufman syndrome 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:20472660, PMID:20498079, PMID:22446187, PMID:25741868, PMID:27491411, PMID:28492532, PMID:29127258, PMID:30311386 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 16045
    syndrome 6991
      McKusick-Kaufman syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Urogenital Diseases 4147
        Female Urogenital Diseases and Pregnancy Complications 1905
          Female Urogenital Diseases 1600
            female reproductive system disease 1596
              vaginal disease 12
                Hydrocolpos 1
                  McKusick-Kaufman syndrome 1
paths to the root

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