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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: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: I cell disease
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
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
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO mucolipidosis IIIC RGD PMID:10712439 RGD:1599045 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO RGD PMID:10973263 RGD:1599926 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
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: Glycoprotein neuraminidase deficiency
ClinVar Annotator: match by term: Sialidosis
MouseDO
ClinVar
PMID:9054950 PMID:10767332 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14695530 PMID:15908988 PMID:16712870 PMID:19568825 PMID:21214877 PMID:24808020 PMID:25153125 PMID:25741868 PMID:26141460 PMID:28492532 PMID:30023283 PMID:32453490 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
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 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Congenital microvillous atrophy
ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy
ClinVar Annotator: match by OMIM:251850
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:27242896 PMID:28492532 PMID:29266534 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link
mucolipidosis II 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 II
ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease
ClinVar PMID:9536098 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:19634183 PMID:25741868 PMID:26130485 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 OMIM:252500
ClinVar Annotator: match by term: Mucolipidosis type II
ClinVar Annotator: match by term: I cell disease
ClinVar Annotator: match by term: ML II ALPHA/BETA
ClinVar Annotator: match by term: Mucolipidosis II
ClinVar Annotator: match by term: Mucolipidosis, Type II
ClinVar
OMIM
PMID:9536098 PMID:16116615 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 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:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24045841 PMID:24060719 PMID:24375680 PMID:24550498 PMID:24767253 PMID:24798265 PMID:25107912 PMID:25473036 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28396763 PMID:28492532 PMID:29704188 PMID:29872134 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31319225 PMID:31934135 PMID:32651481 PMID:32860008 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
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, Type III Alpha/Beta
ClinVar Annotator: match by term: Mucolipidosis III Alpha/Beta
ClinVar Annotator: match by OMIM:252600
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 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 OMIM:252605
ClinVar Annotator: match by term: Mucolipidosis type III gamma
ClinVar Annotator: match by term: Mucolipidosis III Gamma
ClinVar
OMIM
PMID:10712439 PMID:15060128 PMID:16199547 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27884173 PMID:27896079 PMID:28492532 PMID:29170090 PMID:29704188 PMID:30507725 PMID:30882951 NCBI chr10:14,593,050...14,597,995
Ensembl chr10:14,593,056...14,597,969
JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Mucolipidosis, Type III Gamma ClinVar NCBI chr10:14,547,126...14,593,090
Ensembl chr10:14,547,172...14,590,762
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 OMIM:256550
ClinVar Annotator: match by term: Sialidosis type I
ClinVar Annotator: match by term: Sialidosis, type II
ClinVar Annotator: match by term: Neuraminidase 1 deficiency
OMIM
ClinVar
PMID:9054950 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14695530 PMID:15908988 PMID:19415310 PMID:25153125 PMID:25741868 PMID:28492532 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        Metabolic Bone Diseases 378
          glycoproteinosis 8
            Nephrosialidosis 0
            Neuraminidase Deficiency 1
            microvillus inclusion disease 2
            mucolipidosis II alpha/beta 2
            mucolipidosis III alpha/beta + 2
            mucolipidosis III gamma 2
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          inherited metabolic disorder 2358
            lysosomal storage disease 581
              lipid storage disease 518
                mucolipidosis 9
                  glycoproteinosis 8
                    Nephrosialidosis 0
                    Neuraminidase Deficiency 1
                    microvillus inclusion disease 2
                    mucolipidosis II alpha/beta 2
                    mucolipidosis III alpha/beta + 2
                    mucolipidosis III gamma 2
paths to the root