ZFIN Human Disease: CHIME syndrome

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 the PIGL gene on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/22444671/
References:	GARD:310 MESH:C536729 OMIM:280000 ORDO:3474 SNOMEDCT_US_2023_03_01:720639008 UMLS_CUI:C1848392
Ontology:	Human Disease ( DOID:0112152 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER CHIME syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGL	pigl	CHIME syndrome	280000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None