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Metadata
ID DOID:0070144
Name autosomal recessive cutis laxa type I
Definition A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems.
https://www.ncbi.nlm.nih.gov/pubmed/19401719
Xrefs

GARD:8480

MESH:C562628

ORDO:90439

SNOMEDCT_US_2021_03_01:254222002

UMLS_CUI:C0268351

UMLS_CUI:C0432336

Synonyms

autosomal recessive cutis laxa type 1 [EXACT]

Parent Relationships

is_a cutis laxa

is_a autosomal recessive disease

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