autosomal recessive congenital ichthyosis 4A
Information
- Disease name
- autosomal recessive congenital ichthyosis 4A
- Disease ID
- DOID:0060712
- Description
- "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10094194, url:https\://www.ncbi.nlm.nih.gov/pubmed/20672373]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060655
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q80.2
- Cross Reference ID (Disease Ontology)
- MIM:601277
- Exact Synonym (Disease Ontology)
- ARCI4A
- Exact Synonym (Disease Ontology)
- ichthyosis congenita IIB
- Exact Synonym (Disease Ontology)
- ICR2B
- Exact Synonym (Disease Ontology)
- lamellar ichthyosis 2