Search Ontology:
Human Disease

CHIME syndrome

Term ID
DOID:0112152
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 neuroectodermal syndrome
  • Zunich-Kaye syndrome
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. https://pubmed.ncbi.nlm.nih.gov/22444671/
References
Ontology
Human Disease   ( DOID:0112152 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models