GGDonto: Genetic Glyco-Diseases Ontology

CON00025 :  'Mucolipidosis II (alpha/beta)'  (Integration tree)  (Degradation tree)
Common disease names	I-cell disease  ML-II  N-Acetylglucosamine-1-phosphotransferase deficiency
Full list of disease names	Preferred Term  MUCOLIPIDOSIS II ALPHA/BETA Synonyms (from OMIM and MeSH)  CELL DISEASE  ICD  ML II  ML II ALPHA/BETA  MUCOLIPIDOSIS II
UMLS CUI	C0020725
UMLS SAB	MeSH
UMLS CODE	D009081
OMIM DATA	Gene  GNPTAB Gene Number  607840 Phenotype Number  252500
References	Concept   Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.   Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways.   Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.   Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.
GDGDB	(95)

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