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

• ICD10CM:Q80.8
• OMIM:602400

Ontology

Human Disease   ( DOID:0060720 )