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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:9004325 term browser browse the term
Synonyms:exact_synonym: HLBKS;   NEDSOSB;   neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
 primary_id: OMIM:618651
For additional species annotation, visit the Alliance of Genome Resources.



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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
ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
ClinVar
OMIM
PMID:25741868 PMID:30464055 NCBI chr14:9,214,324...9,269,281
Ensembl chr14:9,214,349...9,269,273
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Neurodevelopmental Disorders 5759
        Halperin-Birk Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          brain disease 9833
            Chronic Brain Damage 26
              cerebral palsy 24
                spastic cerebral palsy 14
                  spastic quadriplegia 13
                    Halperin-Birk Syndrome 1
paths to the root