WormBase Tree Display for DO_term: DOID:0080558
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| DOID:0080558 | Name | congenital disorder of glycosylation If | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. | ||||
| Synonym | Exact | congenital disorder of glycosylation 1f | |||
| Parent | Is_a | DOID:0050570 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 609180 | |
| Attribute_of | Gene_by_orthology | WBGene00018181 |
