Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal CNS myelination
HP:0011400
Ataxia
HP:0001251
Basal cell carcinoma
HP:0002671
Basal ganglion calcification
HP:0002135
Cataract
HP:0000518
Cutaneous melanoma
HP:0012056
Cutaneous photosensitivity
HP:0000992
Decreased activity of gonads
HP:0000135
Decreased body height
HP:0004322
Decreased nerve conduction velocity
HP:0000762
Decreased size of cranium
HP:0000252
Decreased size of eyeball
HP:0000568
Degeneration of cerebellum
HP:0001272
Dilated cerebral ventricle
HP:0002119
Freckling
HP:0001480
Increased cellular sensitivity to UV light
HP:0003224
Increased reflexes
HP:0001347
Mental deficiency
HP:0001249
Oncology
HP:0002664
Optic atrophy
HP:0000648
Progeroid facial appearance
HP:0005328
Retinal pigmentary degeneration
HP:0000580
Sensorineural deafness
HP:0000407
Skin degeneration
HP:0004334
Squamous skin carcinoma
HP:0006739
Related Conditions
Quick Facts
- SNOMED CT
- 1073003
- UMLS CUI
- C0268136
- Fully Specified Name
- Xeroderma pigmentosum, group B (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.