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Human Disease

autosomal recessive congenital ichthyosis 11

Term ID
DOID:0060720
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
Ontology
Human Disease   ( DOID:0060720 )
Relationships
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Genes Involved
Zebrafish Models