GGDonto: Genetic Glyco-Diseases Ontology

CON00634 :  'Ehlers-Danlos syndrome, musculocontractural type'  (Integration tree)  (Synthesis tree)
Common disease names	Adducted thumb and clubfoot syndrome
Full list of disease names	Preferred Term  EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Preferred Term ABBR  EDSMC Synonyms (from OMIM and MeSH)  ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME  ADDUCTED THUMB-CLUBFOOT SYNDROME  ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS  ATCS  DUNDAR SYNDROME  EDS6B, FORMERLY  EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY
UMLS CUI	C1866294
UMLS SAB	MeSH (SCR)
UMLS CODE	C538226
OMIM DATA	Gene  CHST14 Gene Number  608429 Phenotype Number  601776
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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