About   Help   FAQ
Disease Ontology Browser
syndromic X-linked intellectual disability Claes-Jensen type (DOID:0060809)
Alliance: disease page
Synonyms: mental retardation, X-linked, syndromic, Claes-Jensen type; MRXSCJ; MRXSJ; syndromic X-linked intellectual disability due to JARID1C mutation; syndromic X-linked mental retardation JARID1C-related
Alt IDs: OMIM:300534, ICD10CM:Q87.8, ORDO:85279
Definition: A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11.

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
04/09/2024
MGI 6.23 		The Jackson Laboratory