WormBase Tree Display for DO_term: DOID:0050802
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| 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 (2) | |||||
| Parent | Is_a (2) | ||||
| DB_info | Database | OMIM | disease | 615349 | |
| Attribute_of | Gene_by_orthology | WBGene00005020 |
