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ONTOLOGY REPORT - ANNOTATIONS


Term:megalencephalic leukoencephalopathy with subcortical cysts 1
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Accession:DOID:0080316 term browser browse the term
Definition:A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in MLC1 on chromosome 22q13. (DO)
Synonyms:exact_synonym: MLC1;   Van Der Knaap disease
 primary_id: OMIM:604004
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megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:13592920
RGD:8554872
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15620
    disease of cellular proliferation 5796
      Cysts 257
        megalencephalic leukoencephalopathy with subcortical cysts 2
          megalencephalic leukoencephalopathy with subcortical cysts 1 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            Metabolic Brain Diseases 471
              Metabolic Brain Diseases, Inborn 406
                Hereditary Central Nervous System Demyelinating Diseases 38
                  megalencephalic leukoencephalopathy with subcortical cysts 2
                    megalencephalic leukoencephalopathy with subcortical cysts 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.