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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:mucolipidosis III alpha/beta
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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.


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mucolipidosis III alpha/beta term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chpt1 choline phosphotransferase 1 ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:27662472 PMID:28492532 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar Annotator: match by OMIM:252600
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta
OMIM
ClinVar
PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 PMID:16465621 PMID:16630736 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:26130485 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:29704188 PMID:29872134 PMID:30208878 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
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:15633164 NCBI chr 7:28,956,363...29,023,232
Ensembl chr 7:28,956,512...29,022,868
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        Metabolic Bone Diseases 374
          glycoproteinosis 8
            mucolipidosis III alpha/beta 2
              Mucolipidosis III Alpha Beta, Atypical 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            lysosomal storage disease 531
              lipid storage disease 469
                mucolipidosis 9
                  glycoproteinosis 8
                    mucolipidosis III alpha/beta 2
                      Mucolipidosis III Alpha Beta, Atypical 1
paths to the root