Bone Fragility with Contractures, Arterial Rupture, and Deafness

mutation in PLOD3

Also Known As:

LH3 Deficiency; Lysyl Hydroxylase 3 Deficiency

Cardiovascular System
- Blood Vessels
  - Arteries
    - Bone Fragility with Contractures, Arterial Rupture, and Deafness
Musculoskeletal System
- Skeleton
  - Bone and Bones
    - Bone Fragility with Contractures, Arterial Rupture, and Deafness
Tissues
- Connective Tissue
  - Bone and Bones
    - Bone Fragility with Contractures, Arterial Rupture, and Deafness
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Bone Fragility with Contractures, Arterial Rupture, and Deafness
Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Contracture: 8558
    - Bone Fragility with Contractures, Arterial Rupture, and Deafness
- Joint Diseases: 6509
  - Contracture: 8558
    - Bone Fragility with Contractures, Arterial Rupture, and Deafness
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Oxygenases: 333
      - Mixed Function Oxygenases: 2175
        2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine: 141
        Bone Fragility with Contractures, Arterial Rupture, and Deafness
Signs and Symptoms Pathological Conditions
- Anatomical Pathological Conditions
  - Spontaneous Rupture: 780
    - Bone Fragility with Contractures, Arterial Rupture, and Deafness

Arteries