Summary Literature (0)

DOID:0070055 - Xia-Gibbs Syndrome

Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3.

Synonyms: autosomal dominant mental retardation 25, MRD25

Xenbase Genes : ahdc1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014358 - AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

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

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