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Human Disease

autosomal recessive cutis laxa type IB

Term ID
DOID:0070133
Synonyms
  • ARCL1B
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. (2)
References
Ontology
Human Disease   ( DOID:0070133 )
Relationships
is a type of
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Genes Involved
Zebrafish Models