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DOID:0070057 - Coffin-Siris syndrome 9
Disease Ontology Definition:An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.
Synonyms: MRD27, autosomal dominant mental retardation 27, autosomal dominant non-syndromic intellectual disability 27,
Xenbase Genes
:
sox11
| MONDO:0014376 - intellectual disability, autosomal dominant 27 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Coffin-Siris syndrome (is_a),
autosomal dominant intellectual developmental disorder (is_a)