FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term autosomal recessive cutis laxa type IIC ID (Ontology) DOID:0070140 (Human Disease)
Definition 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.
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 autosomal recessive cutis laxa type IIC       1
 for disease ribbon | autosomal recessive cutis laxa type IIC       1
 model of | autosomal recessive cutis laxa type IIC       1
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autosomal recessive disease__
cutis laxa___________________|
                             autosomal recessive cutis laxa type II classic type
                              |__autosomal recessive cutis laxa type IIC  1 rec.
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Is a autosomal recessive cutis laxa type II classic type
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ICD10CM:Q82.8
MIM:617402