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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:brain small vessel disease 1
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Accession:DOID:0090125 term browser browse the term
Definition:A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (DO)
Synonyms:exact_synonym: BSVD1;   COL4A1-related brain small vessel disease with hemorrhage;   COL4A1-related brain small-vessel disease;   COL4A1-related familial vascular leukoencephalopathy;   COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome;   Gould syndrome 1;   autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy;   brain small vessel disease 1 with or without ocular anomalies;   brain small vessel disease with Axenfeld-Riegar anomaly;   brain small vessel disease with Axenfeld-Rieger anomaly;   brain small vessel disease with hemorrhage;   brain small vessel disease with or without ocular anomalies;   infantile hemiparesis;   infantile hemiplegia with porencephaly;   leukoencephalopathy with Axenfeld-Riegar anomaly;   leukoencephalopathy with Axenfeld-Rieger anomaly;   retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant
 related_synonym: porencephaly 1;   porencephaly type 1;   porencephaly type 1, autosomal dominant
 primary_id: MESH:C564372
 alt_id: OMIM:175780
 xref: ORDO:36383


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brain small vessel disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain susceptibility ISO
ISS		 ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
OMIM:175780
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage		 ClinVar
CTD
MouseDO
OMIM		 PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        retinal disease 1223
          Retinal Hemorrhage 3
            brain small vessel disease 1 3
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              Eye Manifestations 7
                Eye Hemorrhage 3
                  Retinal Hemorrhage 3
                    brain small vessel disease 1 3
paths to the root