About   Help   FAQ
Disease Ontology Browser
syndromic X-linked intellectual disability 5 (DOID:0060800)
Alliance: disease page
Synonyms: Fried syndrome; Mental retardation, X-linked syndromic 5; MRX59; MRXS21; Pettigrew syndrome; syndromic X-linked mental retardation 21; syndromic X-linked mental retardation Fried type; X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome; X-linked mental retardation 59; X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures
Alt IDs: OMIM:304340, MESH:C535773, NCI:C124839, ORDO:1568, ORDO:85335, UMLS_CUI:C0796254
Definition: A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.

Disease References using Mouse Models (1)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory