autosomal recessive congenital ichthyosis 1 (Q28024490)
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An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.
- ARCI1
- bathing suit ichthyosis
- BSI
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive congenital ichthyosis 1 |
An autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. |
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Wikipedia(1 entry)
- dewiki Badeanzug-Ichthyose