Ehlers-Danlos Syndrome Spondylodysplastic Type 2
Disease ID: disease_node_18774
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| Dbxref | MIM:615349, ORDO:75496, SNOMEDCT_US_2023_03_01:720861000, UMLS_CUI:C1869122 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Synonyms | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, Ehlers-Danlos syndrome progeroid type, XGPT deficiency, defective biosynthesis of proteodermatan sulfate, xylosylprotein 4-beta-galactosyltransferase deficiency |
| Doid Label | Ehlers-Danlos syndrome spondylodysplastic type 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18774 |
| Doid Id | DOID_0050802 |
| Label | Ehlers-Danlos Syndrome Spondylodysplastic Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)