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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:FLIEDNER-ZWEIER SYNDROME
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Accession:DOID:9008654 term browser browse the term
Definition:This disease is a neurodevelopmental disorder characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.
Synonyms:exact_synonym: FZS
 primary_id: OMIM:620511

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FLIEDNER-ZWEIER SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaf4 SR-related CTD associated factor 4 ISO ClinVar Annotator: match by term: Fliedner-Zweier syndrome OMIM
ClinVar		 PMID:7477272 PMID:25741868 PMID:32730804 PMID:36333968 PMID:37394306 NCBI chrNW_004624745:20,040,416...20,097,764
Ensembl chrNW_004624745:20,040,770...20,097,835 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    Developmental Disease 15901
      Neurodevelopmental Disorders 6136
        FLIEDNER-ZWEIER SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13725
      nervous system disease 12005
        central nervous system disease 10780
          brain disease 10110
            disease of mental health 7256
              Neurodevelopmental Disorders 6136
                FLIEDNER-ZWEIER SYNDROME 1
paths to the root