GGDonto: Genetic Glyco-Diseases Ontology

CON00635 :  'Hyperphosphatasia with mental retardation syndrome 1'  (Integration tree)  (Synthesis tree)
Common disease names	HPMRS1
Full list of disease names	Preferred Term  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Preferred Term ABBR  HPMRS1 Synonyms (from OMIM and MeSH)  MABRY SYNDROME
UMLS CUI	C1855923
OMIM DATA	Gene  PIGV Gene Number  610274 Phenotype Number  239300
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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