Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00636 (Tree)
Name	Multiple congenital anomalies-hypotonia-seizures syndrome 1
Aliases	MCAHS1
Disease name:　Preferred Term	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1
Disease name:　Preferred Term ABBR	MCAHS1
UMLS CUI	C3279775
OMIM DATA:　Gene	PIGN
OMIM DATA:　Gene Number	606097
OMIM DATA:　Phenotype Number	614080
Symptoms, signs and abnormal clinical and laboratory findings	Cardiovascular Abnormalities Cardiovascular Diseases Craniofacial Abnormalities Demyelinating Diseases Developmental Disabilities Digestive System Diseases Dyskinesias Female Urogenital Diseases Gastrointestinal Diseases Growth Disorders Heart Defects, Congenital Heart Diseases Hereditary Central Nervous System Demyelinating Diseases Heredodegenerative Disorders, Nervous System Kidney Diseases Male Urogenital Diseases Maxillofacial Abnormalities Mental Disorders Diagnosed in Childhood Muscle Hypotonia Nervous System Diseases Nervous System Malformations Neurobehavioral Manifestations Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Manifestations Seizures Stomatognathic System Abnormalities Tremor Urologic Diseases Epilepsy Fetal Growth Retardation Nephrosis Nystagmus, Congenital Nystagmus, Pathologic Psychomotor Disorders Urogenital Abnormalities Digestive System Abnormalities Anus, Imperforate
References	Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.