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ONTOLOGY REPORT - ANNOTATIONS


Term:metachromatic leukodystrophy
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Accession:DOID:10581 term browser browse the term
Definition:An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.
Synonyms:exact_synonym: ARSA Deficiencies;   ARSA Deficiency;   Adult Metachromatic Leukodystrophies;   Adult-Type Metachromatic Leukodystrophies;   Adult-Type Metachromatic Leukodystrophy;   Arylsulfatase A Deficiencies;   Arylsulfatase A Deficiency;   Arylsulfatase A Deficiency Disease;   Cerebral sclerosis, Diffuse, Metachromatic Form;   Cerebroside Sulfatase Deficiencies;   Cerebroside Sulfatase Deficiency;   Cerebroside Sulphatase Deficiency Disease;   Greenfield Disease;   Greenfield's Disease;   Infant Metachromatic Leukodystrophies;   Infant Metachromatic Leukodystrophy;   Infant-Type Metachromatic Leukodystrophies;   Infant-Type Metachromatic Leukodystrophy;   Juvenile Metachromatic Leukodystrophies;   Juvenile-Type Metachromatic Leukodystrophies;   Juvenile-Type Metachromatic Leukodystrophy;   MLD;   Metachromatic Leukodystrophies;   Metachromatic Leukoencephalopathies;   Metachromatic Leukoencephalopathy;   Scholz cerebral sclerosis;   Sulfatide Lipidosis;   deficiency of cerebroside-sulfatase;   sulfatide lipoidosis
 narrow_synonym: CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY;   METACHROMATIC LEUKODYSTROPHY, ADULT;   METACHROMATIC LEUKODYSTROPHY, JUVENILE;   METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE;   METACHROMATIC LEUKODYSTROPHY, MILD;   METACHROMATIC LEUKODYSTROPHY, SEVERE
 related_synonym: ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE;   Arylsulfatase A Pseudodeficiency;   METACHROMATIC LEUKODYSTROPHY VARIANT
 primary_id: MESH:D007966;   RDO:0004525
 alt_id: OMIM:250100
 xref: GARD:3230;   NCI:C61251;   ORDO:512
For additional species annotation, visit the Alliance of Genome Resources.


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metachromatic leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:1358435
RGD:8554872
RGD:1358434
RGD:7240710
G Arsb arylsulfatase B JBrowse link 2 23,385,154 23,543,028 RGD:8554872
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:8554872
G Mal mal, T-cell differentiation protein JBrowse link 3 120,209,647 120,233,655 RGD:1358761
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:8554872
RGD:13592920
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:8554872
combined saposin deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh23 cadherin-related 23 JBrowse link 20 29,857,018 30,263,758 RGD:8554872
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psap prosaposin JBrowse link 20 29,831,302 29,856,876 RGD:7240710
RGD:8554872
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        neurodegenerative disease 2694
          demyelinating disease 400
            Hereditary Central Nervous System Demyelinating Diseases 38
              metachromatic leukodystrophy 7
                Diffuse Cerebral Sclerosis, Scholz Type 0
                Metachromatic Leukodystrophy due to Saposin B Deficiency 1
                Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A 0
                Pseudoarylsulfatase A Deficiency 1
                combined saposin deficiency 2
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            Metabolic Brain Diseases 472
              Metabolic Brain Diseases, Inborn 406
                Lysosomal Storage Diseases, Nervous System 62
                  sphingolipidosis 46
                    Sulfatidosis 9
                      metachromatic leukodystrophy 7
                        Diffuse Cerebral Sclerosis, Scholz Type 0
                        Metachromatic Leukodystrophy due to Saposin B Deficiency 1
                        Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A 0
                        Pseudoarylsulfatase A Deficiency 1
                        combined saposin deficiency 2
paths to the root

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