WormBase Tree Display for DO_term: DOID:0060719
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DOID:0060719 | Name | autosomal recessive congenital ichthyosis 10 | |||
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Status | Valid | ||||
Definition | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. | ||||
Synonym | Exact | ARCI10 | |||
Parent | Is_a | DOID:0060655 | |||
DB_info | Database | OMIM | disease | 615024 | |
Attribute_of | Gene_by_orthology | WBGene00015484 |