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| Term | hyperphosphatasia with impaired intellectual development syndrome | ID (Ontology) | DOID:0070431 (Human Disease) |
| 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. | ||
| Also Known As | "HPMRS" ; "hyperphosphatasia with mental retardation syndrome" ; "Mabry disease" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal recessive disease__ intellectual disability______| autosomal recessive intellectual developmental disorder |__hyperphosphatasia with impaired intellectual development syndrome 8 rec. |__hyperphosphatasia with impaired intellectual development syndrome 1 1 rec. |__hyperphosphatasia with impaired intellectual development syndrome 2 1 rec. |__hyperphosphatasia with impaired intellectual development syndrome 3 3 rec. |__hyperphosphatasia with impaired intellectual development syndrome 4 1 rec. |__hyperphosphatasia with impaired intellectual development syndrome 5 2 rec. |__hyperphosphatasia with impaired intellectual development syndrome 6 |
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| Is a | autosomal recessive intellectual developmental disorder | ||
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MESH:C565495 MIM:PS239300 ORDO:247262 SNOMEDCT_US_2023_03_01:33982008 UMLS_CUI:C1855923 |
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