Overview
Hereditary mucoepithelial dysplasia is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Coarse hair texture
Always present (100%)HP:0002208
Erythematous oral mucosa
Always present (100%)HP:0034418
Hyperkeratosis follicularis
Always present (100%)HP:0007502
Keratosis pilaris
Always present (100%)HP:0032152
Anorectal anomaly
Very frequent (80-99%)HP:0012732
Cataract
Very frequent (80-99%)HP:0000518
Corneal dystrophy
Very frequent (80-99%)HP:0001131
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Fine hair
Very frequent (80-99%)HP:0002213
Hair loss
Very frequent (80-99%)HP:0001596
Lingua plicata
Very frequent (80-99%)HP:0000221
Oral soft tissue hyperplasia
Very frequent (80-99%)HP:0000212
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Thin, sparse hair
Very frequent (80-99%)HP:0008070
Tracheoesophageal fistula
Very frequent (80-99%)HP:0002575
Abnormal morphology of female internal genitalia
Frequent (30-79%)HP:0000008
Abnormality of the bladder
Frequent (30-79%)HP:0000014
Genitourinary disease
Frequent (30-79%)HP:0000119
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Keratoconjunctivitis
Frequent (30-79%)HP:0001096
Photophobia
Frequent (30-79%)HP:0000613
Pulmonary fibrosis
Frequent (30-79%)HP:0002206
Black faeces
Occasional (5-29%)HP:0002249
Blood in urine
Occasional (5-29%)HP:0000790
Chronic diarrhoea
Occasional (5-29%)HP:0002028
Dystrophic nails
Occasional (5-29%)HP:0008404
Nail dysplasia
Occasional (5-29%)HP:0002164
pulmonary infections, recurrent
Occasional (5-29%)HP:0006532
Blindness
HP:0000618
Chronic monilial nail infection
HP:0008396
Quick Facts
- SNOMED CT
- 403442005
- UMLS CUI
- C1274795
- Fully Specified Name
- Hereditary mucoepithelial 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.