autosomal recessive congenital ichthyosis 4B
Information
- Disease name
- autosomal recessive congenital ichthyosis 4B
- Disease ID
- DOID:0060713
- Description
- "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35." [url:https\://ghr.nlm.nih.gov/condition/harlequin-ichthyosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21339420]
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:Q80.4
- Cross Reference ID (Disease Ontology)
- MIM:242500
- Cross Reference ID (Disease Ontology)
- ORDO:457
- Exact Synonym (Disease Ontology)
- ARCI4B
- Exact Synonym (Disease Ontology)
- harlequin ichthyosis
- Exact Synonym (Disease Ontology)
- harlequin type ichthyosis congenita
- Exact Synonym (Disease Ontology)
- harlequin type ichthyosis fetalis