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autosomal recessive congenital ichthyosis 2
Summary
- Synonym
-
- ARCI2
- BROCQ congenital ichthyosiform erythroderma nonbullous form
- NCIE1
- nonbullous congenital ichthyosiform erythroderma 1
- Definition
- An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060710
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0000966 | Hypohidrosis |
| HP:0008064 | Ichthyosis |
| HP:0000491 | Keratitis |
| HP:0001597 | Abnormality of the nail |
| HP:0000989 | Pruritus |
| HP:0000365 | Hearing impairment |
| HP:0001019 | Erythroderma |
| HP:0004322 | Short stature |
| HP:0000656 | Ectropion |
