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 I ID (Ontology) DOID:0070144 (Human Disease)
Definition A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.
Also Known As "autosomal recessive cutis laxa type 1"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
skin disease                     |
 |__cutis laxa___________________|
                                 autosomal recessive cutis laxa type I  2 rec.
                                  |__autosomal recessive cutis laxa type IA
                                  |__autosomal recessive cutis laxa type IB 1 rec.
                                  |__autosomal recessive cutis laxa type IC 1 rec.
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Is a autosomal recessive disease
cutis laxa
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Synonyms
  • "autosomal recessive cutis laxa type 1" EXACT
Secondary IDs
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GARD:8480
MESH:C562628
ORDO:90439
SNOMEDCT_US_2023_03_01:254222002
UMLS_CUI:C0268351
UMLS_CUI:C0432336