Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Lower limb pain
Always present (100%)HP:0012514
Abnormal humerus morphology
Very frequent (80-99%)HP:0031095
Abnormal morphology of the radius
Very frequent (80-99%)HP:0002818
Abnormal morphology of ulna
Very frequent (80-99%)HP:0040071
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Abnormality of the backbone
Very frequent (80-99%)HP:0000925
Abnormality of the skull bones
Very frequent (80-99%)HP:0000929
Abnormality of the thighbone
Very frequent (80-99%)HP:0002823
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Bone overgrowth
Very frequent (80-99%)HP:0100774
Bone pain
Very frequent (80-99%)HP:0002653
Cachexia
Very frequent (80-99%)HP:0004326
Cortical thickening of long bone diaphyses
Very frequent (80-99%)HP:0005791
Craniofacial osteosclerosis
Very frequent (80-99%)HP:0005464
Elevated circulating aldolase concentration
Very frequent (80-99%)HP:0012544
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Abnormal tibia morphology
Frequent (30-79%)HP:0002992
Easy fatigability
Frequent (30-79%)HP:0003388
Limb pain
Frequent (30-79%)HP:0009763
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Metaphyseal dysplasia
Frequent (30-79%)HP:0100255
Muscle atrophy, neurogenic
Frequent (30-79%)HP:0003202
Muscle weakness
Frequent (30-79%)HP:0001324
Waddling gait
Frequent (30-79%)HP:0002515
Abnormal subcutaneous fat tissue distribution
Occasional (5-29%)HP:0007552
Abnormal vocalization
Occasional (5-29%)HP:0002167
Abnormality of pelvic girdle bone morphology
Occasional (5-29%)HP:0002644
Ataxia
Occasional (5-29%)HP:0001251
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Related Conditions
Dysplasia with increased bone density(parent)
Congenital anomaly of skeletal bone(parent)
Autosomal dominant hereditary disorder(parent)
Chronic musculoskeletal disorder(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Abnormality of diaphysis morphology(parent)
Quick Facts
- SNOMED CT
- 34643004
- UMLS CUI
- C0011989
- Fully Specified Name
- Diaphyseal dysplasia (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.