Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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 2:66,714,247...66,808,510
Ensembl chr 2:66,714,252...66,808,403 		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 chr 2:66,630,795...66,709,497
Ensembl chr 2:66,657,696...66,708,337 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17565
      Neurodevelopmental Disorders 6796
        BURATTI-HAREL SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      nervous system disease 13214
        central nervous system disease 11849
          brain disease 11130
            disease of mental health 8074
              developmental disorder of mental health 5497
                specific developmental disorder 4470
                  intellectual disability 4276
                    BURATTI-HAREL SYNDROME 2
paths to the root