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ONTOLOGY REPORT - ANNOTATIONS


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 III Alpha Beta;   Mucolipidosis Type III;   Pseudo Hurler Polydystrophy;   Psuedo Hurler Disease;   Psuedo-Hurler Diseases;   Sialidoses;   Sialidosis;   Sialolipidoses;   cherry red spot myoclonus syndrome;   ganglioside sialidase deficiency disease;   glycoprotein neuraminidase deficiencies;   sialolipidosis;   type III mucolipidoses
 primary_id: RDO:0003199
 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 JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:1599045
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:1599926
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:8554872
RGD:13592920
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:8554872
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872
inclusion-cell disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
RGD:7240710
microvillus inclusion disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:13592920
G Myo5b myosin Vb JBrowse link 18 70,426,865 70,729,985 RGD:7240710
RGD:8554872
Mucolipidosis III Alpha Beta, Atypical term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:8554872
Mucolipidosis III Gamma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:8554872
RGD:7240710
G Unkl unk like zinc finger JBrowse link 10 14,547,126 14,593,090 RGD:8554872
Neuraminidase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:7240710
RGD:8554872
pseudo-Hurler polydystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chpt1 choline phosphotransferase 1 JBrowse link 7 29,019,518 29,070,928 RGD:8554872
G Gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta JBrowse link 7 28,956,363 29,023,232 RGD:7240710
RGD:8554872
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma JBrowse link 10 14,593,050 14,597,995 RGD:13592920
G Sgsh N-sulfoglucosamine sulfohydrolase JBrowse link 10 108,469,312 108,479,094 RGD:8554872
G Slc26a11 solute carrier family 26 member 11 JBrowse link 10 108,479,105 108,504,188 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        Metabolic Bone Diseases 366
          glycoproteinosis 10
            Mucolipidosis III Gamma 2
            Nephrosialidosis 0
            Neuraminidase Deficiency 1
            inclusion-cell disease 2
            microvillus inclusion disease 2
            pseudo-Hurler polydystrophy + 5
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          inherited metabolic disorder 1780
            lysosomal storage disease 389
              lipid storage disease 335
                mucolipidosis 11
                  glycoproteinosis 10
                    Mucolipidosis III Gamma 2
                    Nephrosialidosis 0
                    Neuraminidase Deficiency 1
                    inclusion-cell disease 2
                    microvillus inclusion disease 2
                    pseudo-Hurler polydystrophy + 5
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.