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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: Gangliosidosis, Generalized GM1, Type I;   Infantile Gangliosidosis GM1;   generalized GM1 gangliosidosis, infantile form;   generalized GM1 gangliosidosis, type 1;   type I GM1-gangliosidoses;   type I GM1-gangliosidosis
 narrow_synonym: GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT;   Gangliosidosis, Generalized GM1, 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
For additional species annotation, visit the Alliance of Genome Resources.


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GM1 gangliosidosis type 1 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 I, WITH CARDIAC INVOLVEMENT, UMLS MESH term: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
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: Gm1-gangliosidosis, type I, with cardiac involvement
ClinVar
OMIM
PMID:1487238, PMID:1606711, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8199591, PMID:8213816, PMID:8500799, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10841810, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22371915, PMID:23337983, PMID:23430499, PMID:23430803, PMID:24156116, PMID:24767253, PMID:25326635, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26169295, PMID:26646981, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29160035, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30809705, PMID:31761138 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:8198123, PMID:8199591, PMID:21497194, PMID:25741868, PMID:28492532, PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        heart disease 2667
          GM1 gangliosidosis type 1 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 505
                Lysosomal Storage Diseases, Nervous System 65
                  sphingolipidosis 50
                    gangliosidosis 9
                      GM1 gangliosidosis 2
                        GM1 gangliosidosis type 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.