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DOID:0112152 - CHIME syndrome
Disease Ontology Definition:A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2.
Synonyms: coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, congenital disorder of glycosylation due to PIGL deficiency, neuroectodermal dysplasia, CHIME type, neuroectodermal syndrome, Zunich type, PIGL-CDG, Zunich-Kaye syndrome, Zunich neuroectodermal syndrome
Xenbase Genes
:
pigl
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)