Search Ontology:
Human Disease

autosomal recessive congenital ichthyosis 10

Term ID
DOID:0060719
Synonyms
  • ARCI10
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. https://www.ncbi.nlm.nih.gov/pubmed/22246504
References
Ontology
Human Disease   ( DOID:0060719 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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