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autosomal recessive congenital ichthyosis 11
Summary
- Synonym
-
- IFAH syndrome
- IHS
- 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
- 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.
- Super Class
- autosomal recessive congenital ichthyosis
External Links
- Disease Ontology
- DOID:0060720
- Mondo Disease Ontology
- OMIM
Related Genes
