FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Ehlers-Danlos syndrome spondylodysplastic type 2 ID (Ontology) DOID:0050802 (Human Disease)
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.
Also Known As "Ehlers-Danlos syndrome progeroid type" ; "EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2"
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 Genes
 Ehlers-Danlos syndrome spondylodysplastic type 2       1
 for disease ribbon | Ehlers-Danlos syndrome spondylodysplastic type 2       1
 model of | Ehlers-Danlos syndrome spondylodysplastic type 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
collagen disease                 |
 |__Ehlers-Danlos syndrome_______|
                                 Ehlers-Danlos syndrome spondylodysplastic type 2  1 rec.
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Is a autosomal recessive disease
Ehlers-Danlos syndrome
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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
Secondary IDs
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MIM:615349
ORDO:75496
SNOMEDCT_US_2023_03_01:720861000
UMLS_CUI:C1869122