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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:BURATTI-HAREL SYNDROME
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Accession:DOID:9006459 term browser browse the term
Definition:This is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears.
Synonyms:exact_synonym: BURHAS
 primary_id: OMIM:619314


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BURATTI-HAREL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp2 lon peptidase 2, peroxisomal ISO ClinVar Annotator: match by term: Buratti-Harel syndrome ClinVar PMID:25741868 PMID:32430360 NCBI chr 8:87,350,672...87,443,264
Ensembl chr 8:87,350,672...87,450,501 		JBrowse link
G Siah1a siah E3 ubiquitin protein ligase 1A ISO ClinVar Annotator: match by term: Buratti-Harel syndrome OMIM
ClinVar		 PMID:25741868 PMID:32430360 NCBI chr 8:87,442,450...87,472,634
Ensembl chr 8:87,450,635...87,472,562 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      Neurodevelopmental Disorders 6891
        BURATTI-HAREL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            disease of mental health 8197
              developmental disorder of mental health 5587
                specific developmental disorder 4533
                  intellectual disability 4334
                    BURATTI-HAREL SYNDROME 2
paths to the root