Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Fibrofolliculoma
Very frequent (80-99%)HP:0030436
Skin tags
Very frequent (80-99%)HP:0010609
Cystic lung disease
Frequent (30-79%)HP:0005948
Repeated pneumothorax
Frequent (30-79%)HP:0006522
Spontaneous collapsed lung
Frequent (30-79%)HP:0002108
Angiofibromas
Occasional (5-29%)HP:0010615
Cancer
Occasional (5-29%)HP:0002664
Collagenoma
Occasional (5-29%)HP:6000022
Collapsed lung
Occasional (5-29%)HP:0002107
Cutaneous melanoma
Occasional (5-29%)HP:0012056
Keratin cyst
Occasional (5-29%)HP:0200040
Lipomas
Occasional (5-29%)HP:0001012
Medullary thyroid cancer
Occasional (5-29%)HP:0002865
Oral mucosal papule
Occasional (5-29%)HP:6000957
Parathyroid adenomas
Occasional (5-29%)HP:0002897
Parotid oncocytoma
Occasional (5-29%)HP:0031523
Renal carcinoma
Occasional (5-29%)HP:0005584
Sebaceous hyperplasia
Occasional (5-29%)HP:0032227
Thyroid cyst
Occasional (5-29%)HP:6000853
Thyroid nodule
Occasional (5-29%)HP:0025388
Trichodiscoma
Occasional (5-29%)HP:0032228
Colon cancer
Very rare (1-4%)HP:0003003
Cutaneous leiomyoma
Very rare (1-4%)HP:0007620
Cutaneous leiomyosarcoma
Very rare (1-4%)HP:0006755
Cystic kidney disease
HP:0000107
Kidney cancer
HP:0009726
Large intestinal polyposis
HP:0030255
Related Conditions
Quick Facts
- SNOMED CT
- 110985001
- UMLS CUI
- C0346010
- Fully Specified Name
- Multiple fibrofolliculomas (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.