GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00026 : 'Mucolipidosis III (alpha/beta)' (Integration tree) (Degradation tree)

Common disease names

ML-III
Pseudo-Hurler Polydystrophy

Full list of disease names

Preferred Term	MUCOLIPIDOSIS III ALPHA/BETA
Synonyms (from OMIM and MeSH)	ML III ML III ALPHA/BETA ML IIIA MUCOLIPIDOSIS III MUCOLIPIDOSIS IIIA PSEUDO-HURLER POLYDYSTROPHY
INCLUDED	MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED

UMLS CUI

C0033788

UMLS SAB

MeSH

UMLS CODE

D009081

OMIM DATA

Gene	GNPTAB
Gene Number	607840
Phenotype Number	252600

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.

GDGDB

(96)