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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: METOPIC RIDGING-PTOSIS-FACIAL DYSMORPHISM SYNDROME;   WSKA;   ZNF462-RELATED CONDITION
 primary_id: MIM:618619
 xref: EFO:0010635


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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: Metopic ridging-ptosis-facial dysmorphism syndrome | ClinVar Annotator: match by term: Weiss-Kruszka syndrome | ClinVar Annotator: match by term: ZNF462-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28513610 PMID:31361404 PMID:32543299 More... NCBI chr 5:69,670,085...69,810,729
Ensembl chr 5:69,670,328...69,810,327 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Neurodevelopmental Disorders 6965
        Developmental Disabilities 764
          WEISS-KRUSZKA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            disease of mental health 8443
              Neurodevelopmental Disorders 6965
                Developmental Disabilities 764
                  WEISS-KRUSZKA SYNDROME 1
paths to the root