syndromic X-linked intellectual disability Claes-Jensen type

Summary

DOID:0060809 - syndromic X-linked intellectual disability Claes-Jensen type

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kdm5c

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010355 - ossification center

MONDO:0010355 - ossification center

MIM:

MIM:300534 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

MIM:300534 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): syndromic X-linked intellectual disability (is_a), X-linked recessive disease (is_a)