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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:GM1 gangliosidosis type 3
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Accession:DOID:0080489 term browser browse the term
Definition:A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. (DO)
Synonyms:exact_synonym: GM1-gangliosidoses type III;   GM1-gangliosidosis type III;   GM1G3;   Gangliosidosis, Generalized GM1, Adult Type;   Gangliosidosis, Generalized GM1, Chronic Type;   Gangliosidosis, Generalized GM1, Type 3;   Gangliosidosis, Generalized GM1, Type III;   Type 3 (Adult) GM1 Gangliosidosis;   adult GM1 gangliosidosis;   adult-onset GM1 gangliosidosis
 primary_id: OMIM:230650
 xref: GARD:2431;   ORDO:79257


show annotations for term's descendants           Sort by:
GM1 gangliosidosis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 | ClinVar Annotator: match by term: Type 3 (adult) GM1 gangliosidosis OMIM
ClinVar		 PMID:1353343 PMID:1907800 PMID:1909089 PMID:6791574 PMID:8068159 More... NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 3 ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16941474 PMID:17576681 More... NCBI chr 9:114,230,163...114,240,269
Ensembl chr 9:114,230,173...114,236,344 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        lipid metabolism disorder 1602
          lipid storage disease 819
            sphingolipidosis 148
              gangliosidosis 42
                GM1 gangliosidosis 3
                  GM1 gangliosidosis type 3 2
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            Metabolic Brain Diseases 1515
              Metabolic Brain Diseases, Inborn 1382
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 148
                    gangliosidosis 42
                      GM1 gangliosidosis 3
                        GM1 gangliosidosis type 3 2
paths to the root