GGDonto: Genetic Glyco-Diseases Ontology

CON00631 :  'Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects'  (Integration tree)  (Synthesis tree)
Full list of disease names	Preferred Term  MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS Synonyms (from OMIM and MeSH)  LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
UMLS CUI	C3278404
OMIM DATA	Gene  B3GAT3 Gene Number  606374 Phenotype Number  245600
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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