FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive cutis laxa type IIB ID (Ontology) DOID:0070137 (Human Disease)
Definition A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
Also Known As "ARCL2, progeroid type" ; "ARCL2B"
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 Genes
 autosomal recessive cutis laxa type IIB       2
 for disease ribbon | autosomal recessive cutis laxa type IIB       2
 model of | autosomal recessive cutis laxa type IIB       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
skin disease                     |
 |__cutis laxa___________________|
                                 autosomal recessive cutis laxa type IIB  2 rec.
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Is a autosomal recessive disease
cutis laxa
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Synonyms
  • "ARCL2, progeroid type" EXACT
    "ARCL2B" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q82.8
MIM:612940
ORDO:357064