Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00623 (Tree)
Name	DDOST-CDG
Aliases	CDG-Ir Congenital Disorder of Glycosylation, Type Ir
Disease name:　Preferred Term	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir
Disease name:　Preferred Term ABBR	CDG1R
Disease name:　Synonyms (from OMIM and MeSH)	Congenital disorder of glycosylation type 1R
UMLS CUI	C3281084
OMIM DATA:　Gene	DDOST
OMIM DATA:　Gene Number	602202
OMIM DATA:　Phenotype Number	614507
Symptoms, signs and abnormal clinical and laboratory findings	Bone Diseases, Metabolic Constipation Deglutition Disorders (Swallowing difficulty) Demyelinating Diseases Developmental Disabilities Digestive System Diseases Ear Diseases Hereditary Central Nervous System Demyelinating Diseases Heredodegenerative Disorders, Nervous System Language Disorders Liver Diseases Mental Disorders Diagnosed in Childhood Motor Skills Disorders Muscle Hypotonia Neurobehavioral Manifestations Neurodegenerative Diseases Neuromuscular Manifestations Ocular Motility Disorders Osteoporosis Otitis Pharyngeal Diseases Signs and Symptoms Signs and Symptoms, Digestive Speech Disorders Blood Coagulation Disorders Coagulation Protein Disorders (Blood Coagulation Factor Deficiencies) Esophageal Diseases Failure to Thrive Psychomotor Disorders Strabismus
References	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. Table 1 CDG: Molecular Genetics. 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. Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161.