Search Ontology:
Human Disease
autosomal recessive congenital ichthyosis 1
- Term ID
- DOID:0060656
- Synonyms
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- ARCI1
- bathing suit ichthyosis
- Definition
- An autosomal recessive congenital ichthyosis that is 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. https://www.ncbi.nlm.nih.gov/pubmed/7824952
- References
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- GARD:3170
- ICD10CM:Q80.2
- MIM:242300
- ORDO:100976
- ORDO:281122
- ORDO:313
- Ontology
- Human Disease ( DOID:0060656 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models