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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:Snijders Blok-Fisher Syndrome
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Accession:DOID:9004310 term browser browse the term
Definition:A neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies.
Synonyms:exact_synonym: SNIBFIS
 primary_id: OMIM:618604
 xref: EFO:0010634


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Snijders Blok-Fisher Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU3F3 POU class 3 homeobox 3 ISO ClinVar Annotator: match by term: Snijders blok-fisher syndrome OMIM
ClinVar		 PMID:25741868 PMID:30712878 PMID:31303265 NCBI chr 3:49,804,112...49,807,730
Ensembl chr 3:49,806,161...49,807,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    Developmental Disease 13239
      Neurodevelopmental Disorders 6650
        Developmental Disabilities 769
          Snijders Blok-Fisher Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      nervous system disease 12992
        central nervous system disease 11644
          brain disease 10936
            disease of mental health 7899
              Neurodevelopmental Disorders 6650
                Developmental Disabilities 769
                  Snijders Blok-Fisher Syndrome 1
paths to the root