GGDonto: Genetic Glyco-Diseases Ontology

CON00636 :  'Multiple congenital anomalies-hypotonia-seizures syndrome 1'  (Integration tree)  (Synthesis tree)
Common disease names	MCAHS1
Full list of disease names	Preferred Term  MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 Preferred Term ABBR  MCAHS1
UMLS CUI	C3279775
OMIM DATA	Gene  PIGN Gene Number  606097 Phenotype Number  614080
References	Concept   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Relations   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.

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