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Disease Ontology Browser
hyperphosphatasia with impaired intellectual development syndrome (DOID:0070431)
Alliance: disease page
Synonyms: HPMRS; hyperphosphatasia with mental retardation syndrome; Mabry disease; Mabry syndrome
Alt IDs: MESH:C565495, OMIM:PS239300, ORDO:247262, UMLS_CUI:C1855923
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory