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Term:COL4A1-related familial vascular leukoencephalopathy
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Accession:DOID:0090125 term browser browse the term
Definition:A brain disease characterized by autosomal dominant inheritance of 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 heterozygous mutation in the COL4A1 gene on chromosome 13q34. (DO)
Synonyms:exact_synonym: BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES;   BSVD;   Brain Small Vessel Disease With Axenfeld-Rieger Anomaly;   Brain Small Vessel Disease with Hemorrhage;   COL4A1-related brain small vessel disease with hemorrhage;   COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome;   Col4a1-Related Brain Small-Vessel Disease;   Infantile Hemiparesis;   Leukoencephalopathy With Axenfeld-Rieger Anomaly;   Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant;   autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy;   brain small vessel disease with Axenfeld-Riegar anomaly;   leukoencephalopathy with Axenfeld-Riegar anomaly
 primary_id: MESH:C564372;   RDO:0013362
 alt_id: OMIM:607595
 xref: ORDO:36383
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COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:8554872
RGD:7240710
G Col4a2 collagen type IV alpha 2 chain JBrowse link 16 83,386,388 83,522,169 RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          COL4A1-related familial vascular leukoencephalopathy 2
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Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              Eye Manifestations 4
                Eye Hemorrhage 2
                  Retinal Hemorrhage 2
                    COL4A1-related familial vascular leukoencephalopathy 2
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