OBO ID: DOID:0070133 |
Term Name: | autosomal recessive cutis laxa type IB | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0070133 ) |
OTHER autosomal recessive cutis laxa type IB PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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