Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y5Y6 | Suppressor of tumorigenicity 14 protein |
