Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Neuraminidase Deficiency
go back to main search page
Accession:DOID:9008118 term browser browse the term
Synonyms:exact_synonym: GLYCOPROTEIN NEURAMINIDASE DEFICIENCY;   ML I;   Mucolipidosis type 1;   Neu Deficiency;   Neu1 Deficiency;   Neug Deficiency;   Sialidase deficiency;   Sialidoses, type 2;   Sialidosis, Type I;   lipomucopolysaccharidosis;   mucolipidosis I;   mucolipidosis type I;   neuraminidase 1 deficiency;   sialidosis, type II;   type I mucolipidoses
 narrow_synonym: CHERRY RED SPOT--MYOCLONUS SYNDROME
 primary_id: MESH:C537366
 alt_id: OMIM:256550;   RDO:0003198;   RDO:0013741
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Nutritional and Metabolic Diseases 4280
      disease of metabolism 4280
        Metabolic Bone Diseases 369
          glycoproteinosis 10
            Neuraminidase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          inherited metabolic disorder 1829
            lysosomal storage disease 401
              lipid storage disease 347
                mucolipidosis 11
                  glycoproteinosis 10
                    Neuraminidase Deficiency 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.