syndromic X-linked intellectual disability type 10

Summary

DOID:0060810 - syndromic X-linked intellectual disability type 10

Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.

Synonyms: HSD10 deficiency, atypical type, HSD10 disease, atypical type, mental retardation, X-linked syndromic 10, MRXS10, X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

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

: huwe1, hsd17b10

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010272 - obsolete syndromic X-linked intellectual disability type 10

MONDO:0010272 - obsolete syndromic X-linked intellectual disability type 10

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)