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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 1
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Accession:DOID:0080502 term browser browse the term
Definition:A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. (DO)
Synonyms:exact_synonym: GM1-gangliosidoses type I;   GM1-gangliosidosis type I;   GM1G1;   Infantile Gangliosidosis GM1;   generalized GM1 gangliosidosis, infantile form;   generalized GM1 gangliosidosis, type 1;   generalized GM1 gangliosidosis, type I
 narrow_synonym: GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT;   generalized GM1 gangliosidosis, type I, with cardiac involvement
 related_synonym: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
 primary_id: MESH:C566895
 alt_id: OMIM:230500
 xref: GARD:6479;   ORDO:79255



show annotations for term's descendants           Sort by:
GM1 gangliosidosis type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, infantile form ClinVar PMID:25741868 PMID:28492532 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1 gangliosidosis type 1 | ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement | ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 | ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
OMIM
ClinVar
PMID:1353343 PMID:1487238 PMID:1606711 PMID:1907800 PMID:1909089 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Infantile GM1 gangliosidosis ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          GM1 gangliosidosis type 1 3
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
                  sphingolipidosis 149
                    gangliosidosis 42
                      GM1 gangliosidosis 3
                        GM1 gangliosidosis type 1 3
paths to the root