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General Information
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| Term |
autosomal recessive congenital ichthyosis 4B |
ID (Ontology) |
DOID:0060713 (Human Disease) |
| Definition |
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. |
| Also Known As |
"ARCI4B" ; "harlequin ichthyosis" ; "harlequin type ichthyosis congenita" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal recessive congenital ichthyosis 4B | 1 | for disease ribbon | autosomal recessive congenital ichthyosis 4B | 1 | model of | autosomal recessive congenital ichthyosis 4B | 1 |
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Relationships