Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cutaneous photosensitivity
Always present (100%)HP:0000992
Hyperpigmented macules
Always present (100%)HP:0001034
Intellectual deterioration
Always present (100%)HP:0001268
Loss of distal sensation
Always present (100%)HP:0002936
Pes cavus
Always present (100%)HP:0001761
Red-blue papule
Always present (100%)HP:0030350
Squamous skin carcinoma
Always present (100%)HP:0006739
Verrucous epidermal nevus
Always present (100%)HP:0034275
Ataxia
HP:0001251
Choreoathetoid movements
HP:0001266
Corneal inflammation
HP:0000491
Decreased size of cranium
HP:0000252
Defective DNA repair after ultraviolet radiation damage
HP:0003079
Everted eyelid
HP:0000656
Eyelid turned in
HP:0000621
Hyporeflexia
HP:0001265
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Melanoma
HP:0002861
Mental deficiency
HP:0001249
Pink eye
HP:0000509
Poikiloderma
HP:0001029
Sensorineural deafness
HP:0000407
Skin degeneration
HP:0004334
Telangiectasia
HP:0001009
Related Conditions
Quick Facts
- SNOMED CT
- 43477006
- UMLS CUI
- C0268135
- Fully Specified Name
- Xeroderma pigmentosum, group A (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.