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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:glycoproteinosis
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Accession:DOID:3343 term browser browse the term
Definition:A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (DO)
Synonyms:exact_synonym: Glycoprotein Neuraminidase Deficiency;   Mucolipidosis Type III;   Pseudo Hurler Polydystrophy;   Psuedo Hurler Disease;   Sialidoses;   Sialidosis;   cherry red spot myoclonus syndrome;   ganglioside sialidase deficiency disease;   glycoprotein neuraminidase deficiencies;   psuedo-Hurler diseases;   sialolipidoses;   sialolipidosis;   type III mucolipidoses
 xref: GARD:10670;   NCI:C61267
For additional species annotation, visit the Alliance of Genome Resources.



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glycoproteinosis 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: Pseudo-Hurler polydystrophy ClinVar PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 More... NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
JBrowse link
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta ISO ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16200072 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Neu1 neuraminidase 1 ISS
ISO
OMIM:256550
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis
MouseDO
ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
JBrowse link
microvillus inclusion disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISS OMIM:251850 MouseDO NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 More... NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
JBrowse link
mucolipidosis II 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 II OMIM
ClinVar
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 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:15633164 PMID:28492532 NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link
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:16200072 More... NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
JBrowse link
mucolipidosis III gamma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma OMIM
ClinVar
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 More... NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis type III gamma ClinVar NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
JBrowse link
Neuraminidase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neu1 neuraminidase 1 ISO ClinVar Annotator: match by term: ML I | ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I OMIM
ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 More... NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE OMIM
ClinVar
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        Metabolic Bone Diseases 389
          glycoproteinosis 9
            Nephrosialidosis 0
            Neuraminidase Deficiency 1
            microvillus inclusion disease + 3
            mucolipidosis II alpha/beta 1
            mucolipidosis III alpha/beta + 1
            mucolipidosis III gamma 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            lysosomal storage disease 807
              lipid storage disease 645
                mucolipidosis 10
                  glycoproteinosis 9
                    Nephrosialidosis 0
                    Neuraminidase Deficiency 1
                    microvillus inclusion disease + 3
                    mucolipidosis II alpha/beta 1
                    mucolipidosis III alpha/beta + 1
                    mucolipidosis III gamma 2
paths to the root