1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070461 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4A | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0111143 | mitochondrial complex V (ATP synthase) deficiency | A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. |