Overview
Multiple epiphyseal dysplasia type 5 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.
Hip pain
Always present (100%)HP:0030838
Hypoplastic femoral neck
Always present (100%)HP:0100864
Shortened long bones of hand
Always present (100%)HP:0010049
Abnormal formation of the hip
Very frequent (80-99%)HP:0001385
Delayed ossification proximal femoral epiphyses
Very frequent (80-99%)HP:0008828
Abnormal upper limb epiphysis morphology
Frequent (30-79%)HP:0003839
Abnormality of the epiphyses of the feet
Frequent (30-79%)HP:0010631
Abnormality of the hip joints
Frequent (30-79%)HP:0001384
Decreased body height
Frequent (30-79%)HP:0004322
Genu valga
Frequent (30-79%)HP:0002857
Genua vara
Frequent (30-79%)HP:0002970
Pain under knee cap
Frequent (30-79%)HP:0030839
Relative short stature
Frequent (30-79%)HP:0003502
Abnormal acetabulum morphology
Occasional (5-29%)HP:0003170
Ankle pain
Occasional (5-29%)HP:0030840
Coxa vara
Occasional (5-29%)HP:0002812
Decreased hip abduction
Occasional (5-29%)HP:0003184
Degeneration of intervertebral discs
Occasional (5-29%)HP:0008419
Gait disturbance
Occasional (5-29%)HP:0001288
Hip arthralgia
Occasional (5-29%)HP:0003365
Limited hip movement
Occasional (5-29%)HP:0008800
Multiple small vertebral fractures
Occasional (5-29%)HP:0005877
Osteoarthritis of the small joints of the hand
Occasional (5-29%)HP:0004268
Osteonecrosis of the femoral head
Occasional (5-29%)HP:0005743
Stiff joint
Occasional (5-29%)HP:0001387
Back pain
Very rare (1-4%)HP:0003418
Abnormal development of end part of bone
HP:0002656
Arthralgias
HP:0002829
Broad femoral neck
HP:0006429
Delayed ossification of carpal bones
HP:0001216
Quick Facts
- SNOMED CT
- 715674008
- UMLS CUI
- C1846843
- Fully Specified Name
- Multiple epiphyseal dysplasia type 5 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.