About: autosomal recessive congenital ichthyosis 4B

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Attributes	Values
type	Class
subClassOf	autosomal recessive congenital ichthyosis nodeID://b50939250
label	autosomal recessive congenital ichthyosis 4B
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060713
database_cross_reference	ICD10CM:Q80.4 OMIM:242500 ORDO:457
has_exact_synonym	ARCI4B (en) harlequin ichthyosis (en) harlequin type ichthyosis congenita (en) harlequin type ichthyosis fetalis (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 severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939251

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