Overview
X-linked dyskeratosis congenita 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.
Dystrophic nails
Always present (100%)HP:0008404
leukokeratosis
Always present (100%)HP:0002745
Reticular pigmentation pattern
Always present (100%)HP:0007427
Oropharyngeal squamous cell carcinoma
Frequent (30-79%)HP:0012182
Thrombocytopenia
Frequent (30-79%)HP:0001873
Ataxia
Occasional (5-29%)HP:0001251
Small cerebellum
Occasional (5-29%)HP:0001321
Acute myeloid leukaemia
HP:0004808
Anal mucosal leukoplakia
HP:0005212
Carcinoma
HP:0030731
Cellulitis of eyelids
HP:0000498
Cirrhosis
HP:0001394
Conjunctivitis
HP:0000509
Cryptorchidism
HP:0000028
Decreased body height
HP:0004322
Decreased size of cranium
HP:0000252
Decreased testicular size
HP:0008734
Esophageal stricture
HP:0002043
Hair loss
HP:0001596
Hodgkin's lymphoma
HP:0012189
Horseshoe kidney
HP:0000085
Hypoplastic bone marrow
HP:0005528
Hypoplastic myelodysplasia
HP:0002863
Hypospadias
HP:0000047
Immune deficiency
HP:0002721
Increased lacrimation
HP:0009926
Lens opacities
HP:0000518
Leukopenia
HP:0001882
Longitudinal ridging
HP:0001807
Longitudinal splitting of nail
HP:0001809
Quick Facts
- SNOMED CT
- 708536001
- UMLS CUI
- C1148551
- Fully Specified Name
- X-linked dyskeratosis congenita (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.