WormBase Tree Display for DO_term: DOID:0080567
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DOID:0080567 | Name | congenital disorder of glycosylation Ip | |||
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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 |