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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:fucosidosis
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Accession:DOID:14500 term browser browse the term
Definition:An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)
Synonyms:exact_synonym: A-fucosidase deficiency;   FUCA1-RELATED CONDITION;   Fucosidase Deficiency;   Fucosidase Deficiency Disease;   Fucosidase Deficiency Diseases;   Fucosidosis, alpha;   alpha Fucosidase Deficiency Disease;   alpha L Fucosidase Deficiency Disease;   alpha-Fucosidase Deficiency Diseases;   alpha-L-Fucosidase Deficiency;   alpha-L-Fucosidase Deficiency Diseases;   alpha-fucosidase deficiency;   infantile fucosidosis;   juvenile fucosidosis
 narrow_synonym: fucosidosis type 1;   fucosidosis type I;   fucosidosis type II
 primary_id: MESH:D005645
 alt_id: OMIA:000396;   OMIM:230000
 xref: GARD:6473;   ICD10CM:E77.1;   NCI:C61274
For additional species annotation, visit the Alliance of Genome Resources.


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fucosidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Fucosidosis ClinVar PMID:25741868 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO
ISS		 DNA:nonsense mutation:cds: (human)
CTD Direct Evidence: marker/mechanism
OMIM:230000
ClinVar Annotator: match by term: Fucosidosis		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1214294 PMID:1281988 PMID:2012122 PMID:2642067 PMID:7581404 More... RGD:1598969 NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        inherited metabolic disorder 6214
          carbohydrate metabolic disorder 3267
            fucosidosis 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Lysosomal Storage Diseases, Nervous System 177
                  fucosidosis 2
paths to the root