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 ID (Ontology) DOID:13359 (Human Disease)
Definition A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Also Known As "Cutis hyperelastica" ; "elastic skin"
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Human Disease Models (FBhh)  DOID       1
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 Human Disease Models
 Ehlers-Danlos syndrome       1
Spanning Tree (Parents/Children)
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  connective tissue disease
   |__collagen disease
       |__Ehlers-Danlos syndrome  22 rec.
           |__autosomal recessive type IV Ehlers-Danlos syndrome
           |__brittle cornea syndrome 1
           |__brittle cornea syndrome 2
           |__Ehlers-Danlos syndrome arthrochalasia type 1
           |__Ehlers-Danlos syndrome arthrochalasia type 2
           |__Ehlers-Danlos syndrome cardiac valvular type
           |__Ehlers-Danlos syndrome classic type 1 1 rec.
           |__Ehlers-Danlos syndrome classic type 2 1 rec.
           |__Ehlers-Danlos syndrome classic-like 1 6 rec.
           |__Ehlers-Danlos syndrome classic-like 2 1 rec.
           |__Ehlers-Danlos syndrome dermatosparaxis type 1 rec.
           |__Ehlers-Danlos syndrome hypermobility type
           |__Ehlers-Danlos syndrome kyphoscoliotic type 1 1 rec.
           |__Ehlers-Danlos syndrome kyphoscoliotic type 2 1 rec.
           |__Ehlers-Danlos syndrome musculocontractural type 1 2 rec.
           |__Ehlers-Danlos syndrome musculocontractural type 2
           |__Ehlers-Danlos syndrome periodontal type 1 2 rec.
           |__Ehlers-Danlos syndrome periodontal type 2 1 rec.
           |__Ehlers-Danlos syndrome spondylodysplastic type 1 2 rec.
           |__Ehlers-Danlos syndrome spondylodysplastic type 2 1 rec.
           |__Ehlers-Danlos syndrome spondylodysplastic type 3 2 rec.
           |__vascular type Ehlers-Danlos syndrome
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Synonyms
  • "Cutis hyperelastica" EXACT
    "elastic skin" EXACT
Secondary IDs
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GARD:6322
ICD10CM:Q79.6
ICD9CM:756.83
MESH:D004535
MIM:PS130000
NCI:C34568
SNOMEDCT_US_2023_03_01:268352002
UMLS_CUI:C0013720