hyperphosphatasia with impaired intellectual development syndrome

Term ID

DOID:0070431

Synonyms

HPMRS
hyperphosphatasia with mental retardation syndrome
Mabry disease
Mabry syndrome

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. (2)

References

MESH:C565495
MIM:PS239300
ORDO:247262
SNOMEDCT_US_2023_03_01:33982008
UMLS_CUI:C1855923

Ontology

Human Disease ( DOID:0070431 )

Relationships

is a type of: autosomal recessive intellectual developmental disorder

autosomal recessive intellectual developmental disorder Show first 5 Terms
has subtype: hyperphosphatasia with impaired intellectual development syndrome 1 hyperphosphatasia with impaired intellectual development syndrome 2 hyperphosphatasia with impaired intellectual development syndrome 3 hyperphosphatasia with impaired intellectual development syndrome 4 hyperphosphatasia with impaired intellectual development syndrome 5 ... Show All 6 Terms

hyperphosphatasia with impaired intellectual development syndrome 1 hyperphosphatasia with impaired intellectual development syndrome 2 hyperphosphatasia with impaired intellectual development syndrome 3 hyperphosphatasia with impaired intellectual development syndrome 4 hyperphosphatasia with impaired intellectual development syndrome 5 hyperphosphatasia with impaired intellectual development syndrome 6 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models