Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:mucolipidosis III alpha/beta
go back to main search page
Accession:DOID:0080071 term browser browse the term
Definition:A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. (DO)
Synonyms:exact_synonym: ML III;   ML III alpha/beta;   ML IIIA;   MUCOLIPIDOSIS IIIA;   Mucolipidosis type 3 A;   mucolipidosis III;   mucolipidosis type III alpha/beta;   pseudo-Hurler polydystrophy
 narrow_synonym: atypical pseudo-Hurler polydystrophy mucolipidosis III alpha/beta
 broad_synonym: GNPTAB-RELATED DISORDER
 primary_id: MESH:C537367;   OMIM:252600
 xref: ORDO:577
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
mucolipidosis III alpha/beta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical ClinVar PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532 NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        Metabolic Bone Diseases 387
          glycoproteinosis 9
            mucolipidosis III alpha/beta 1
              Mucolipidosis III Alpha Beta, Atypical 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            lysosomal storage disease 805
              lipid storage disease 643
                mucolipidosis 10
                  glycoproteinosis 9
                    mucolipidosis III alpha/beta 1
                      Mucolipidosis III Alpha Beta, Atypical 1
paths to the root