Metadata | |
---|---|
ID | DOID:0080542 |
Name | hyperprolinemia type 1 |
Definition | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. https://ghr.nlm.nih.gov/condition/hyperprolinemia |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
hyperprolinemia type I [EXACT] |
Parent Relationships |
is_a hyperprolinemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |