WormBase Tree Display for DO_term: DOID:0080567
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| DOID:0080567 | Name | congenital disorder of glycosylation Ip | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. | ||||
| Synonym | Exact | congenital disorder of glycosylation 1p | |||
| Parent | Is_a | DOID:0050570 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 613661 | |
| Attribute_of | Gene_by_orthology | WBGene00015162 |
