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autosomal recessive congenital ichthyosis 1

Summary

Synonym

ARCI1

Definition

An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2.

Super Class

autosomal recessive congenital ichthyosis

External Links

Disease Ontology

DOID:0060656

Mondo Disease Ontology

MONDO:0009441

ORDO

OMIM

242300

GARD

3170

MGI genotype (from TogoID)

3029167

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
26154	ABCA12	ATP binding cassette subfamily A member 12	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
74591	Abca12	ATP-binding cassette, sub-family A member 12	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
171782	abt-2	ABC transporter domain-containing protein	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 22 in total

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HPO ID	HPO Term
HP:0001376	Limitation of joint mobility
HP:0008064	Ichthyosis
HP:0000989	Pruritus
HP:0100679	Lack of skin elasticity
HP:0001944	Dehydration
HP:0000389	Chronic otitis media
HP:0000164	Abnormality of the dentition
HP:0011039	Abnormal helix morphology
HP:0000958	Dry skin
HP:0100806	Sepsis