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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 chr19:20,407,475...20,498,985
Ensembl chr19:20,407,477...20,499,014 		JBrowse link
G Siah1 siah E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Buratti-Harel syndrome OMIM
ClinVar		 PMID:25741868 PMID:32430360 NCBI chr19:20,378,908...20,402,512
Ensembl chr19:20,378,439...20,403,808 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        BURATTI-HAREL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    BURATTI-HAREL SYNDROME 2
paths to the root