WormBase Tree Display for DO_term: DOID:0050802
expand all nodes | collapse all nodes | view schema
| DOID:0050802 | Name | Ehlers-Danlos syndrome spondylodysplastic type 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. | ||||
| Synonym | Exact | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | |||
| Ehlers-Danlos syndrome progeroid type | |||||
| Related | XGPT deficiency | ||||
| defective biosynthesis of proteodermatan sulfate | |||||
| xylosylprotein 4-beta-galactosyltransferase deficiency | |||||
| Parent | Is_a | DOID:13359 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 615349 | |
| Attribute_of | Gene_by_orthology | WBGene00005020 |
