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Ontology Browser

Term:
autosomal recessive congenital ichthyosis 5 (DOID:0060714)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal recessive congenital ichthyosis 1 +   
autosomal recessive congenital ichthyosis 10  
autosomal recessive congenital ichthyosis 11  
Autosomal Recessive Congenital Ichthyosis 12  
autosomal recessive congenital ichthyosis 13  
autosomal recessive congenital ichthyosis 14  
autosomal recessive congenital ichthyosis 2  
autosomal recessive congenital ichthyosis 3  
autosomal recessive congenital ichthyosis 4A  
autosomal recessive congenital ichthyosis 4B  
autosomal recessive congenital ichthyosis 5  
An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)
autosomal recessive congenital ichthyosis 6  
autosomal recessive congenital ichthyosis 7 
autosomal recessive congenital ichthyosis 8  
autosomal recessive congenital ichthyosis 9  
Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 
CHILD syndrome  
Ichthyosis Congenita with Biliary Atresia 
Ketoadipicaciduria 
Netherton syndrome  
neutral lipid storage disease +   
Reticular Erythrokeratoderma  
Self-Healing Collodion Baby 

Synonyms
Exact Synonyms: ARCI5 ;   LI3 ;   NNCI ;   autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis ;   ichthyosis congenita 3 ;   ichthyosis congenita III ;   lamellar ichthyosis 3 ;   lamellar ichthyosis, type 3
Primary IDs: MESH:C537265 ;   MESH:C565749
Alternate IDs: OMIM:604777 ;   RDO:0003070 ;   RDO:0014305
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10712223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO"

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