GGDonto: Genetic Glyco-Diseases Ontology

CON00633 :  'Spondyloepiphyseal dysplasia with congenital joint dislocations'  (Integration tree)  (Synthesis tree)
Common disease names	Spondyloepiphyseal dysplasia, Omani type
Full list of disease names	Preferred Term  SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Synonyms (from OMIM and MeSH)  CDMD  CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS  HSD  HUMEROSPINAL DYSOSTOSIS  SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE
UMLS CUI	C1837657
UMLS SAB	MeSH (SCR)
UMLS CODE	C535789
OMIM DATA	Gene  CHST3 Gene Number  603799 Phenotype Number  143095
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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