WormBase Tree Display for DO_term: DOID:0080542
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DOID:0080542 | Name | hyperprolinemia type 1 | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. | ||||
Synonym | Exact | hyperprolinemia type I | |||
Parent | Is_a | DOID:0050737 | |||
DOID:0080541 | |||||
DB_info | Database | OMIM | disease | 239500 | |
Attribute_of | Gene_by_orthology | WBGene00007197 |