FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term CHIME syndrome ID (Ontology) DOID:0112152 (Human Disease)
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.
Also Known As "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" ; "congenital disorder of glycosylation due to PIGL deficiency" ; "neuroectodermal dysplasia, CHIME type" (for all, see Synonyms field below)
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 Genes
 CHIME syndrome       1
 for disease ribbon | CHIME syndrome       1
 model of | CHIME syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 CHIME syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT
    "congenital disorder of glycosylation due to PIGL deficiency" EXACT
    "neuroectodermal dysplasia, CHIME type" EXACT
    "neuroectodermal syndrome, Zunich type" EXACT
    "PIGL-CDG" EXACT OMO:0003012
    "Zunich neuroectodermal syndrome" EXACT
    "Zunich-Kaye syndrome" EXACT
Secondary IDs
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GARD:310
MESH:C536729
MIM:280000
ORDO:3474
SNOMEDCT_US_2023_03_01:720639008
UMLS_CUI:C1848392