1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070132 | autosomal recessive cutis laxa type IIIA | A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |