ZFIN Human Disease: autosomal recessive congenital ichthyosis 4B

OBO ID: DOID:0060713

Term Name:	autosomal recessive congenital ichthyosis 4B		Search Ontology:
Synonyms:	ARCI4B harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis
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. (2)
References:	ICD10CM:Q80.4 OMIM:242500 ORDO:457
Ontology:	Human Disease ( DOID:0060713 )

Relationships

is a type of:	autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ABCA12	abca12	Ichthyosis, congenital, autosomal recessive 4B (harlequin)	242500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None