Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Eczema
Always present (100%)HP:0000964
Elevated serum aspartate aminotransferase
Always present (100%)HP:0031956
Jaundice, neonatal
Always present (100%)HP:0006579
Predisposition to infections
Always present (100%)HP:0002719
Protruding forehead
Always present (100%)HP:0011220
Reduced tissue peptidase D activity
Always present (100%)HP:6000828
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Abnormality of the middle ear
Very frequent (80-99%)HP:0000370
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Crusting erythematous dermatitis
Very frequent (80-99%)HP:0007473
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Erythema
Very frequent (80-99%)HP:0010783
Hearing impairment
Very frequent (80-99%)HP:0000365
Hypergammaglobulinaemia
Very frequent (80-99%)HP:0010702
Immunological abnormality
Very frequent (80-99%)HP:0002715
Keratoderma
Very frequent (80-99%)HP:0000982
Malformation of face
Very frequent (80-99%)HP:0001999
Open skin sore
Very frequent (80-99%)HP:0200042
Papules
Very frequent (80-99%)HP:0200034
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Rotting teeth
Very frequent (80-99%)HP:0000670
Skin itching
Very frequent (80-99%)HP:0000989
Thin skin
Very frequent (80-99%)HP:0000963
Xerosis
Very frequent (80-99%)HP:0000958
Abnormality of RPE
Frequent (30-79%)HP:0007703
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Arachnodactyly
Frequent (30-79%)HP:0001166
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Quick Facts
- SNOMED CT
- 360994007
- UMLS CUI
- C0268532
- Fully Specified Name
- Deficiency of Xaa-Pro dipeptidase (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.