GGDonto: Genetic Glyco-Diseases Ontology

CON00409 :  'Lysyl hydroxylase 3 deficiency'  (Integration tree)  (Synthesis tree)
Common disease names	Bone fragility with contractures, arterial rupture, and deafness  LH3 deficiency
Full list of disease names	Preferred Term  BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS Synonyms (from OMIM and MeSH)  LH3 DEFICIENCY  LYSYL HYDROXYLASE 3 DEFICIENCY
UMLS CUI	C2676285
UMLS SAB	MeSH (SCR)
UMLS CODE	C567320
OMIM DATA	Gene  PLOD3 Gene Number  603066 Phenotype Number  612394
References	Relations   Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.   Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.   Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.   Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
GDGDB	(108)

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