Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aganglionic megacolon
HP:0002251
Cognitive delay
HP:0001263
Colon diverticula
HP:0002253
Diarrhea
HP:0002014
Disproportionate tall stature
HP:0001519
Dyschezia
HP:0002019
Elevated circulating calcitonin concentration
HP:0003528
Elevated urinary epinephrine level
HP:0003639
Enlarged parathyroid glands
HP:0008208
Failure to thrive in first year of life
HP:0001531
Flushing
HP:0031284
Ganglioneuroma
HP:0003005
Generalised decreased muscle tone
HP:0001290
High arched palate
HP:0000218
Hunched back
HP:0002808
Increased height of lower lip vermilion
HP:0000179
Ligamentous laxity
HP:0001382
Medullary thyroid cancer
HP:0002865
Myopathy
HP:0003198
Narrow, high-arched roof of mouth
HP:0002705
Nodular goiter
HP:0005994
Pectus excavatum
HP:0000767
Peripheral hypotonia
HP:0001252
Pes cavus
HP:0001761
Pheochromocytoma
HP:0002666
Prominent swayback
HP:0003307
Scoliosis
HP:0002650
Slipped capital femoral epiphyses
HP:0006461
Thick eyebrow
HP:0000574
Quick Facts
- SNOMED CT
- 61530001
- UMLS CUI
- C0025269
- Fully Specified Name
- Multiple endocrine neoplasia, type 2b (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.