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Ontology Browser

Term:
Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 (DOID:9001811)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
Hyperphosphatasia with Impaired Intellectual Development Syndrome 6 
An autosomal recessive multisystemic disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts.

Synonyms
Exact Synonyms: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 ;   GPIBD12 ;   HPMRS6 ;   Hyperphosphatasia with Mental Retardation Syndrome 6
Replaced By: DOID:0070437

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