GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00012 : 'Sialidosis' (Integration tree) (Degradation tree)

Common disease names

Mucolipidosis I
Neuraminidase deficiency

Full list of disease names

Preferred Term	NEURAMINIDASE DEFICIENCY
Synonyms (from OMIM and MeSH)	GLYCOPROTEIN NEURAMINIDASE DEFICIENCY LIPOMUCOPOLYSACCHARIDOSIS ML I MUCOLIPIDOSIS I NEU DEFICIENCY NEU1 DEFICIENCY NEUG DEFICIENCY NEURAMINIDASE 1 DEFICIENCY SIALIDASE DEFICIENCY SIALIDOSIS, TYPE II
INCLUDED	CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED SIALIDOSIS, TYPE I, INCLUDED

UMLS CUI

C0268226

UMLS SAB

MeSH

UMLS CODE

D009081

OMIM DATA

Gene	NEU1
Gene Number	608272
Phenotype Number	256550

References

Concept

Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation.
Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.

GDGDB

(78)