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Metadata
ID DOID:0060713
Name autosomal recessive congenital ichthyosis 4B
Definition 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.
https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis, https://www.ncbi.nlm.nih.gov/pubmed/21339420
Xrefs

ICD10CM:Q80.4

OMIM:242500

ORDO:457

Subsets

DO_rare_slim

Synonyms

ARCI4B [EXACT]

harlequin ichthyosis [EXACT]

harlequin type ichthyosis congenita [EXACT]

harlequin type ichthyosis fetalis [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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