Overview
Deficiency of hyaluronidase is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Acetabular erosions
Always present (100%)HP:0033640
Calcium deposits in joints
Always present (100%)HP:0000934
Concave bridge of nose
Always present (100%)HP:0005280
Diminished circulating hyaluronidase activity
Always present (100%)HP:6000969
Knee pain
Always present (100%)HP:0030839
Periarticular soft-tissue mass
Always present (100%)HP:0020127
Popliteal synovial cyst
Always present (100%)HP:0032072
Recurrent middle ear infection
Always present (100%)HP:0000403
Submucous cleft hard palate
Always present (100%)HP:0000176
Synovitis
Always present (100%)HP:0100769
Uvula bifida
Always present (100%)HP:0000193
Abnormal acetabulum morphology
Very frequent (80-99%)HP:0003170
Decreased body height
Very frequent (80-99%)HP:0004322
Ankle pain
Frequent (30-79%)HP:0030840
Finger joint hypermobility
Frequent (30-79%)HP:0006094
Hip pain
Frequent (30-79%)HP:0030838
Hyperextensibility at elbow
Frequent (30-79%)HP:0010485
Lumbar scoliosis
Frequent (30-79%)HP:0004626
Wrist hypermobility
Frequent (30-79%)HP:0005072
Related Conditions
Quick Facts
- SNOMED CT
- 124473006
- UMLS CUI
- C1291490
- Fully Specified Name
- Deficiency of hyaluronoglucosaminidase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.