ZFIN Human Disease: autosomal recessive congenital ichthyosis 11

OBO ID: DOID:0060720

Term Name:	autosomal recessive congenital ichthyosis 11		Search Ontology:
Synonyms:	autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome IFAH syndrome IHS
Definition:	An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (3)
References:	ICD10CM:Q80.8 OMIM:602400
Ontology:	Human Disease ( DOID:0060720 )

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
ST14	st14b st14a	Ichthyosis, congenital, autosomal recessive 11	602400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None