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Ontology Browser
Term:
Junctional Epidermolysis Bullosa 4, Intermediate (DOID:9000413)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Junctional Epidermolysis Bullosa 1A, Intermediate  
Junctional Epidermolysis Bullosa 2A, Intermediate  
Junctional Epidermolysis Bullosa 3A, Intermediate  
Junctional Epidermolysis Bullosa 4, Intermediate  
An autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. Caused by homozygous or compound heterozygous mutation in the COL17A1 gene on chromosome 10q25.
Junctional Epidermolysis Bullosa 5A, Intermediate  
Junctional Epidermolysis Bullosa Inversa 

Synonyms
Exact Synonyms: GABEB ;   JEB4 ;   Junctional Epidermolysis Bullosa 4, Non-Herlitz Type ;   generalized atrophic benign epidermolysis bullosa ;   junctional epidermolysis bullosa, localisata variant
Broad Synonyms: COL17A1-RELATED CONDITION
Primary IDs: MIM:619787
Definition Sources: MIM:619787

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