Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Sclerotic ilium
Always present (100%)HP:6000869
Abnormal endocrine physiology
Very frequent (80-99%)HP:0031072
Cystic ovaries
Very frequent (80-99%)HP:0000138
Large cafe-au-lait macules with irregular margins
Very frequent (80-99%)HP:0005605
Precocious puberty
Very frequent (80-99%)HP:0000826
Abnormal skull base morphology
Frequent (30-79%)HP:0002693
Abnormality of the thighbone
Frequent (30-79%)HP:0002823
Abnormality of the thyroid gland
Frequent (30-79%)HP:0000820
Anomaly of facial skeleton
Frequent (30-79%)HP:0011821
Anomaly of the testes
Frequent (30-79%)HP:0000035
Early bone maturation
Frequent (30-79%)HP:0005616
Fibrous dysplasia of the bones
Frequent (30-79%)HP:0010734
Growth abnormality
Frequent (30-79%)HP:0001507
High serum testosterone level
Frequent (30-79%)HP:0030088
Hyperthyroidism
Frequent (30-79%)HP:0000836
Large testis
Frequent (30-79%)HP:0000053
Monostotic fibrous dysplasia
Frequent (30-79%)HP:0010736
Renal tubular dysfunction
Frequent (30-79%)HP:0000124
Scoliosis
Frequent (30-79%)HP:0002650
Abnormal sexual behavior
Occasional (5-29%)HP:0008768
Angle class 2 malocclusion
Occasional (5-29%)HP:0000689
Anomaly of the face
Occasional (5-29%)HP:0000271
Bone fracture
Occasional (5-29%)HP:0020110
Bone pain
Occasional (5-29%)HP:0002653
Decreased fertility
Occasional (5-29%)HP:0000144
Elevated circulating growth hormone concentration
Occasional (5-29%)HP:0000845
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Hepatic adenoma
Occasional (5-29%)HP:0012028
Hyperplasia of the Leydig cells
Occasional (5-29%)HP:0010791
Hypoacusis
Occasional (5-29%)HP:0000365
Quick Facts
- SNOMED CT
- 36517007
- UMLS CUI
- C0016065
- Fully Specified Name
- Polyostotic fibrous dysplasia of bone (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.