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Ontology Browser

Term:
autosomal recessive congenital ichthyosis 1 (DOID:0060656)
Annotations: Rat: (8) Mouse: (8) Human: (9) Chinchilla: (6) Bonobo: (8) Dog: (8) Squirrel: (8) Pig: (8)
Parent Terms Term With Siblings Child Terms
autosomal recessive congenital ichthyosis 1 +   
An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)
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  
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: ARCI1 ;   AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1 ;   ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION ;   ICR2 ;   Ichthyosis Congenita ;   Ichthyosis Congenita I ;   Ichthyosis Congenita II ;   Ichthyosis Congenitas ;   Ichthyosis, Lamellar, 1 ;   Ichthyosis, TGM1-related ;   LI1 ;   Lamellar Exfoliation of Newborn ;   Lamellar Ichthyosis, Type 1 ;   Newborn Desquamation ;   Newborn Desquamations ;   SHCB ;   bathing suit ichthyosis ;   collodion baby syndrome ;   collodion baby syndromes ;   collodion fetus ;   desquamation of newborn ;   newborn lamellar exfoliation ;   newborn lamellar exfoliations ;   self-healing collodion baby
Primary IDs: MESH:D017490
Alternate IDs: OMIA:000546 ;   OMIM:242300
Xrefs: ORDO:100976 ;   ORDO:281122 ;   ORDO:313
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/7824952 "DO"

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