hyperphosphatasia with impaired intellectual development syndrome

Summary

DOID:0070431 - hyperphosphatasia with impaired intellectual development syndrome

Disease Ontology Definition:An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed.

Synonyms: HPMRS, hyperphosphatasia with mental retardation syndrome, Mabry disease, Mabry syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pgap3, pigv, pigw, pigy, pigo, pgap2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive intellectual developmental disorder (is_a)