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Ontology Browser
Term:
autosomal recessive congenital ichthyosis 4B (DOID:0060713)
Annotations: Rat: (4) Mouse: (4) Human: (5) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4) Naked Mole-rat: (4) Green Monkey: (4)
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  
An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)
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: ARCI4B ;   HI ;   ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN) ;   harlequin baby syndrome ;   harlequin fetus ;   harlequin ichthyoses ;   harlequin ichthyosis ;   harlequin type ichthyosis ;   harlequin type ichthyosis congenita ;   harlequin type ichthyosis fetalis ;   ichthyosis congenita, harlequin fetus type
Primary IDs: MESH:C538424
Alternate IDs: OMIM:242500
Xrefs: ICD10CM:Q80.4 ;   NCI:C98934 ;   ORDO:457
Definition Sources: https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21339420 "DO" "DO"

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