Search Ontology: 
        
        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
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    - ICD10CM:Q82.8
- MIM:219100
 
- Ontology
- Human Disease ( DOID:0070135 )
                
                    
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