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autosomal recessive cutis laxa type IIB
Summary
- Synonym
-
- ARCL2, progeroid type
- ARCL2B
- Definition
- A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease cutis laxa
External Links
- Disease Ontology
- DOID:0070137
- Mondo Disease Ontology
- ORDO
- OMIM
