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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