Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive congenital ichthyosis 6
Summary
- Synonym
-
- ARCI6
- Definition
- An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060715
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0200020 | Corneal erosion |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0001596 | Alopecia |
| HP:0000958 | Dry skin |
| HP:0008070 | Sparse hair |
| HP:0000389 | Chronic otitis media |
| HP:0100758 | Gangrene |
| HP:0000164 | Abnormality of the dentition |
| HP:0100543 | Cognitive impairment |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
