FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term autosomal recessive cutis laxa type IB ID (Ontology) DOID:0070133 (Human Disease)
Definition An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.
Also Known As "ARCL1B"
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 Genes
 autosomal recessive cutis laxa type IB       1
 for disease ribbon | autosomal recessive cutis laxa type IB       1
 model of | autosomal recessive cutis laxa type IB       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
cutis laxa___________________|
                             autosomal recessive cutis laxa type I
                              |__autosomal recessive cutis laxa type IB  1 rec.
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Is a autosomal recessive cutis laxa type I
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Synonyms
  • "ARCL1B" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q82.8
MIM:614437