Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Breakdown of bone
Very frequent (80-99%)HP:0002797
Elevated alkaline phosphatase of bone origin
Very frequent (80-99%)HP:0010639
Patchy reduction of bone mineral density
Very frequent (80-99%)HP:0010657
Abnormal bone ossification
Frequent (30-79%)HP:0011849
Abnormal occipital bone morphology
Frequent (30-79%)HP:0012294
Abnormality of cranium
Frequent (30-79%)HP:0002683
Abnormality of the internal auditory canal
Frequent (30-79%)HP:0011384
Anomaly of facial skeleton
Frequent (30-79%)HP:0011821
Bone pain
Frequent (30-79%)HP:0002653
Cervical vertebral anomalies
Frequent (30-79%)HP:0003319
Chewing difficulties
Frequent (30-79%)HP:0005216
Cortical irregularity
Frequent (30-79%)HP:0005731
Deformity of the temporomandibular joint
Frequent (30-79%)HP:0010754
Functional motor deficit
Frequent (30-79%)HP:0004302
Lower jaw pain
Frequent (30-79%)HP:0200025
Lymphangioma
Frequent (30-79%)HP:0100764
Nasal Discharge
Frequent (30-79%)HP:0031417
Osteolysis involving bones of the lower limbs
Frequent (30-79%)HP:0009139
Osteolysis involving bones of the upper limbs
Frequent (30-79%)HP:0045039
Osteopenia
Frequent (30-79%)HP:0000938
Soft tissue swelling
Frequent (30-79%)HP:0000969
Spasmodic torticollis
Frequent (30-79%)HP:0000473
Abnormalities of the fingers
Occasional (5-29%)HP:0001167
Abnormality of the thighbone
Occasional (5-29%)HP:0002823
Abnormality of the thoracic cavity
Occasional (5-29%)HP:0045027
Arnold Chiari type I malformation
Occasional (5-29%)HP:0007099
Deformity of the ethmoid bone
Occasional (5-29%)HP:0430005
Fluid around lungs
Occasional (5-29%)HP:0002202
Hemangiomatosis
Occasional (5-29%)HP:0007461
Hypoacusis
Occasional (5-29%)HP:0000365
Related Conditions
Quick Facts
- SNOMED CT
- 1515008
- UMLS CUI
- C0029438
- Fully Specified Name
- Gorham's disease (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.