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Halperin-Birk syndrome - Ontology Report - Rat Genome Database

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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:Halperin-Birk syndrome
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Accession:DOID:0070539 term browser browse the term
Definition:A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. (DO)
Synonyms:exact_synonym: HLBKS;   NEDSOSB;   neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
 primary_id: MIM:618651
 alt_id: DOID:9004325
 xref: EFO:0010662

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Halperin-Birk syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec31a SEC31 homolog A, COPII coat complex component ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies OMIM
ClinVar		 PMID:25741868 PMID:30464055 NCBI chrNW_004936738:1,664,916...1,741,739
Ensembl chrNW_004936738:1,676,436...1,744,896 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    syndrome 10016
      Halperin-Birk syndrome 1
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12614
        central nervous system disease 11277
          brain disease 10584
            Chronic Brain Damage 103
              cerebral palsy 101
                spastic cerebral palsy 45
                  spastic quadriplegic cerebral palsy 41
                    Halperin-Birk syndrome 1
paths to the root