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Human Disease

autosomal recessive cutis laxa type IA

Term ID
DOID:0070135
Synonyms
  • ARCL1A
Definition
An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/12189163
References
Ontology
Human Disease   ( DOID:0070135 )
Relationships
is a type of
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Genes Involved
Zebrafish Models