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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:Krabbe disease
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Accession:DOID:10587 term browser browse the term
Definition:An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
Synonyms:exact_synonym: Diffuse Globoid Body Sclerosis;   Early Onset Globoid Cell Leukodystrophy;   GALC Deficiencies;   GALC Deficiency;   GCL;   GLD;   Galactocerebrosidase Deficiency;   Galactosylceramidase Deficiency Disease;   Galactosylceramide Lipidosis;   Galactosylceramide beta Galactosidase Deficiency;   Galactosylceramide beta Galactosidase Deficiency Disease;   Galactosylcerebrosidase Deficiency;   Galactosylsphingosine Lipidosis;   Globoid Cell Leukodystrophies;   Globoid Cell Leukodystrophy;   Globoid Cell Leukoencephalopathies;   Globoid Cell Leukoencephalopathy;   Globoid Leukodystrophies;   Globoid Leukodystrophy;   Infantile Globoid Cell Leukodystrophy;   Krabbe Leukodystrophy;   Krabbe's Disease;   Krabbe's leukodystrophy;   Krabbes disease;   Krabbes leukodystrophy;   beta galactocerebrosidase deficiency;   classic globoid cell leukodystrophy;   galactocerebrosidase deficiencies;   galactosylceramidase deficiency diseases;   galactosylceramide beta-galactosidase deficiencies;   galactosylceramide-beta-galactosidase deficiency diseases;   late onset globoid cell leukodystrophy;   psychosine lipidosis
 primary_id: MESH:D007965
 alt_id: OMIA:000578;   OMIM:245200
 xref: GARD:6844;   ICD10CM:E75.23;   NCI:C133088;   NCI:C61254
For additional species annotation, visit the Alliance of Genome Resources.

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Krabbe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell		 OMIM
ClinVar		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 More... NCBI chrNW_004955438:10,667,807...10,704,386
Ensembl chrNW_004955438:10,667,807...10,704,384 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Galactocerebrosidase deficiency | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:25741868 NCBI chrNW_004955438:11,033,089...11,069,178
Ensembl chrNW_004955438:11,033,998...11,069,128 		JBrowse link
Atypical Krabbe Disease due to Saposin A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency | ClinVar Annotator: match by term: Saposin A Deficiency ClinVar
OMIM		 PMID:9536098 PMID:15773042 PMID:17576681 PMID:25741868 PMID:26822237 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        neurodegenerative disease 4401
          Nervous System Heredodegenerative Disorders 3017
            Hereditary Central Nervous System Demyelinating Diseases 112
              Krabbe disease 4
                Atypical Krabbe Disease due to Saposin A Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            Metabolic Brain Diseases 1359
              Metabolic Brain Diseases, Inborn 1240
                Lysosomal Storage Diseases, Nervous System 165
                  sphingolipidosis 141
                    Krabbe disease 4
                      Atypical Krabbe Disease due to Saposin A Deficiency 2
paths to the root