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Term:
Parent Terms Term With Siblings Child Terms
autosomal recessive cutis laxa type IIA  
autosomal recessive cutis laxa type IIB  
autosomal recessive cutis laxa type IIC  
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. (DO)
autosomal recessive cutis laxa type IID  
Autosomal Recessive Cutis Laxa Type IIE  

Synonyms
Exact Synonyms: ARCL2C ;   ATP6V1E1-RELATED CONDITION
Primary IDs: MIM:617402
Alternate IDs: DOID:9003003
Definition Sources: PMID:28065471 "DO" "DO"

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