GGDonto: Genetic Glyco-Diseases Ontology

CON00632 :  'Temtamy preaxial brachydactyly syndrome'  (Integration tree)  (Synthesis tree)
Common disease names	TPBS
Full list of disease names	Preferred Term  TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Preferred Term ABBR  TPBS Synonyms (from OMIM and MeSH)  PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
UMLS CUI	C1854466
UMLS SAB	MeSH (SCR)
UMLS CODE	C536958
OMIM DATA	Gene  CHSY1 Gene Number  608183 Phenotype Number  605282
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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