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Ontology Browser
Term:
autosomal recessive congenital ichthyosis 6 (DOID:0060715)
Annotations: Rat: (1) Mouse: (1) Human: (3) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (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  
autosomal recessive congenital ichthyosis 6  
An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)
autosomal recessive congenital ichthyosis 7 
autosomal recessive congenital ichthyosis 8  
autosomal recessive congenital ichthyosis 9  
Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related 
Chanarin-Dorfman syndrome +   
CHILD syndrome  
Ichthyosis Congenita with Biliary Atresia 
Ketoadipicaciduria 
Netherton syndrome  
Reticular Erythrokeratoderma  
Self-Healing Collodion Baby 

Synonyms
Exact Synonyms: ARCI6 ;   autosomal recessive congenital ichthyosis, NIPAL4-related ;   ichthyosis, NIPAL4-related
Primary IDs: OMIM:612281
Alternate IDs: OMIA:001980
Xrefs: ICD10CM:Q80.2
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17557927 "DO" "DO"

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