Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00635 (Tree)
Name	Hyperphosphatasia with mental retardation syndrome 1
Aliases	HPMRS1
Disease name:　Preferred Term	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
Disease name:　Preferred Term ABBR	HPMRS1
Disease name:　Synonyms (from OMIM and MeSH)	MABRY SYNDROME
UMLS CUI	C1855923
OMIM DATA:　Gene	PIGV
OMIM DATA:　Gene Number	610274
OMIM DATA:　Phenotype Number	239300
Symptoms, signs and abnormal clinical and laboratory findings	Brain Diseases Cardiovascular Abnormalities Cardiovascular Diseases Communication Disorders Craniofacial Abnormalities Demyelinating Diseases Developmental Disabilities Digestive System Diseases Hearing Disorders Hearing Loss (Hearing impairment) Heart Defects, Congenital Heart Diseases Hereditary Central Nervous System Demyelinating Diseases Heredodegenerative Disorders, Nervous System Intellectual Disability (Mental Retardation) Language Disorders Learning Disorders Limb Deformities, Congenital Maxillofacial Abnormalities Mental Disorders Diagnosed in Childhood Mobility Limitation Motor Skills Disorders Muscle Hypotonia Neurobehavioral Manifestations Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Manifestations Seizures Signs and Symptoms Speech Disorders Stomatognathic System Abnormalities Brachydactyly Cleft Lip Cleft Palate Epilepsy Foot Deformities, Congenital Hand Deformities, Congenital Hypertelorism Jaw Abnormalities Lower Extremity Deformities, Congenital Upper Extremity Deformities, Congenital Craniofacial Dysostosis 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. Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.