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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:WEISS-KRUSZKA SYNDROME
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Accession:DOID:9005848 term browser browse the term
Definition:An autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose.
Synonyms:exact_synonym: WSKA
 primary_id: OMIM:618619
For additional species annotation, visit the Alliance of Genome Resources.


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WEISS-KRUSZKA SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: WEISS-KRUSZKA SYNDROME OMIM
ClinVar
PMID:28513610, PMID:31361404 NCBI chr 5:71,679,841...71,824,077
Ensembl chr 5:71,742,911...71,823,139
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4557
        Developmental Disabilities 641
          WEISS-KRUSZKA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              Neurodevelopmental Disorders 4557
                Developmental Disabilities 641
                  WEISS-KRUSZKA 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.