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CHIME syndrome
Summary
- Synonym
-
- PIGL-CDG
- Zunich neuroectodermal syndrome
- Zunich-Kaye syndrome
- 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
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0112152
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002827 | Hip dislocation |
| HP:0004279 | Short palm |
| HP:0005930 | Abnormal epiphysis morphology |
| HP:0006482 | Abnormal dental morphology |
| HP:0006660 | Aplastic clavicle |
| HP:0006709 | Aplasia/Hypoplasia of the nipples |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0007957 | Corneal opacity |
| HP:0008064 | Ichthyosis |
| HP:0008070 | Sparse hair |
