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Ontology Browser
Term:
autosomal recessive congenital ichthyosis 2 (DOID:0060710)
Annotations: Rat: (3) Mouse: (3) Human: (6) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3) Naked Mole-rat: (3) Green Monkey: (3)
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  
An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO)
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  
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: ALOX12B-RELATED CONDITION ;   ARCI2 ;   COLLODION BABY, SELF-HEALING ;   NCIE1 ;   Nonbullous congenital ichthyosiform erythroderma 1 ;   ichthyosiform erythroderma, BROCQ congenital, nonbullous form
Primary IDs: MESH:C538603
Alternate IDs: OMIM:242100
Xrefs: NCI:C132827
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16116617 "DO" "DO"

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