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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 Deficiencies;   Galactocerebrosidase Deficiency;   Galactosylceramidase Deficiency Disease;   Galactosylceramidase Deficiency Diseases;   Galactosylceramide Lipidosis;   Galactosylceramide beta Galactosidase Deficiency;   Galactosylceramide beta Galactosidase Deficiency Disease;   Galactosylceramide beta-Galactosidase Deficiencies;   Galactosylceramide-beta-Galactosidase Deficiency Diseases;   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;   Late Onset Globoid Cell Leukodystrophy;   beta galactocerebrosidase deficiency;   classic 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: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200		 OMIM
ClinVar		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16607461 PMID:16759875 PMID:17579360 PMID:17824908 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27638583 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31185936 PMID:31319225 PMID:32576985 PMID:32860008, PMID:2120388 RGD:38599167 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614 		JBrowse link
G Psap prosaposin ISO
ISS		 ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell		 ClinVar
MouseDO		 PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		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 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar Annotator: match by OMIM:611722		 OMIM
ClinVar		 PMID:15773042 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        neurodegenerative disease 3220
          Nervous System Heredodegenerative Disorders 1911
            Hereditary Central Nervous System Demyelinating Diseases 41
              Krabbe disease 3
                Atypical Krabbe Disease due to Saposin A Deficiency 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            Metabolic Brain Diseases 577
              Metabolic Brain Diseases, Inborn 507
                Lysosomal Storage Diseases, Nervous System 66
                  sphingolipidosis 50
                    Krabbe disease 3
                      Atypical Krabbe Disease due to Saposin A Deficiency 2
paths to the root