About: autosomal recessive congenital ichthyosis 2

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Attributes	Values
type	Class
subClassOf	autosomal recessive congenital ichthyosis nodeID://b50939244
label	autosomal recessive congenital ichthyosis 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060710
database_cross_reference	ICD10CM:Q80.2 OMIM:242100
has_exact_synonym	ARCI2 (en) NCIE1 (en) nonbullous congenital ichthyosiform erythroderma 1 (en) BROCQ congenital ichthyosiform erythroderma nonbullous form (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939245

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