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 classic type 1 ID (Ontology) DOID:14720 (Human Disease)
Definition An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.
Also Known As "Ehlers-Danlos syndrome, type 1" ; "type I Ehlers-Danlos syndrome"
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 Genes
 Ehlers-Danlos syndrome classic type 1       1
 for disease ribbon | Ehlers-Danlos syndrome classic type 1       1
 model of | Ehlers-Danlos syndrome classic type 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
collagen disease                |
 |__Ehlers-Danlos syndrome______|
                                Ehlers-Danlos syndrome classic type 1  1 rec.
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Is a autosomal dominant disease
Ehlers-Danlos syndrome
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Synonyms
  • "Ehlers-Danlos syndrome, type 1" EXACT
    "type I Ehlers-Danlos syndrome" EXACT
Secondary IDs
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MESH:C536194
MIM:130000
NCI:C125696
SNOMEDCT_US_2023_03_01:83470009
UMLS_CUI:C0268335