OBO ID: DOID:0112152
Term Name: CHIME syndrome Search Ontology:
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 PIGL on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/22444671/
References:
Ontology: Human Disease   (DOID:0112152)
OTHER CHIME syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIGL CHIME syndrome 280000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None