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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
 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
ClinVar Annotator: match by term: Metopic ridging-ptosis-facial dysmorphism syndrome
ClinVar Annotator: match by term: Weiss-kruszka syndrome
OMIM
ClinVar
PMID:25741868 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 16909
    Developmental Disease 10557
      Neurodevelopmental Disorders 5563
        Developmental Disabilities 519
          WEISS-KRUSZKA SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              Neurodevelopmental Disorders 5563
                Developmental Disabilities 519
                  WEISS-KRUSZKA SYNDROME 1
paths to the root