Search Ontology:
Human Disease

glycoproteinosis

Term ID
DOID:3343
Synonyms
  • Mucolipidosis type I
  • sialidosis
Definition
A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (3)
References
  • GARD:10670
  • MESH:D009081
  • MIM:256550
  • NCI:C61267
  • SNOMEDCT_US_2023_03_01:70528007
  • UMLS_CUI:C0026697
Ontology
Human Disease   ( DOID:3343 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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