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autosomal recessive congenital ichthyosis
Summary
- Synonym
-
- ARCI
- lamellar ichthyosis
- non bullous congenital ichthyosiform erythroderma
- Definition
- An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
- Super Class
- autosomal recessive disease ichthyosis physical disorder
External Links
- Disease Ontology
- DOID:0060655
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 242 | ALOX12B | arachidonate 12-lipoxygenase, 12R type | |
| 412 | STS | steroid sulfatase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 6785 | ELOVL4 | ELOVL fatty acid elongase 4 | |
| 6820 | SULT2B1 | sulfotransferase family 2B member 1 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 50814 | NSDHL | NAD(P) dependent steroid dehydrogenase-like | |
| 91949 | COG7 | component of oligomeric golgi complex 7 | |
| 204219 | CERS3 | ceramide synthase 3 |
Related Glycoprotein
