ZFIN Human Disease: autosomal recessive congenital ichthyosis 4A

OBO ID: DOID:0060712

Term Name:	autosomal recessive congenital ichthyosis 4A		Search Ontology:
Synonyms:	ARCI4A ichthyosis congenita IIB ICR2B lamellar ichthyosis 2
Definition:	An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (2)
References:	ICD10CM:Q80.2 OMIM:601277
Ontology:	Human Disease ( DOID:0060712 )

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 4A	601277

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None