| Metadata | |
|---|---|
| ID | DOID:0050802 |
| Name | Ehlers-Danlos syndrome spondylodysplastic type 2 |
| 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. http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm |
| Xrefs |
SNOMEDCT_US_2023_03_01:720861000 |
| Subsets |
DO_rare_slim |
| Synonyms |
defective biosynthesis of proteodermatan sulfate [RELATED] Ehlers-Danlos syndrome progeroid type [EXACT] EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 [EXACT] XGPT deficiency [RELATED] xylosylprotein 4-beta-galactosyltransferase deficiency [RELATED] |
| Parent Relationships |