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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 term: MUCOLIPIDOSIS III ALPHA/BETA
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:18484607, PMID:19197337, PMID:19617216, PMID:19634183, PMID:19659762, PMID:19881469, PMID:19938078, PMID:20147709, PMID:20301515, PMID:20301728, PMID:20367762, PMID:20886637, 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:30311386 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 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        Metabolic Bone Diseases 375
          glycoproteinosis 8
            mucolipidosis III alpha/beta 2
              Mucolipidosis III Alpha Beta, Atypical 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              lipid storage disease 467
                mucolipidosis 9
                  glycoproteinosis 8
                    mucolipidosis III alpha/beta 2
                      Mucolipidosis III Alpha Beta, Atypical 1
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.