Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Degeneration of cerebellum
Always present (100%)HP:0001272
Enlarged liver
Always present (100%)HP:0002240
Frequent falls
Always present (100%)HP:0002359
Frequent vomiting
Always present (100%)HP:0002572
Hyperargininemia
Always present (100%)HP:0500153
Micronodular cirrhosis
Always present (100%)HP:0001413
Portal fibrosis shown on biopsy
Always present (100%)HP:0006580
Slowed or blocked flow of bile from liver
Always present (100%)HP:0001396
Spastic walk
Always present (100%)HP:0002064
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Behavioural disorders
Very frequent (80-99%)HP:0000708
Diaminoaciduria
Very frequent (80-99%)HP:0008339
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
Epilepsy
Frequent (30-79%)HP:0001250
High blood ammonia levels
Frequent (30-79%)HP:0001987
Paralysis or weakness of one side of body
Frequent (30-79%)HP:0004374
Progressive spastic quadriparesis
Frequent (30-79%)HP:0002478
Growth delay as children
HP:0008897
Hyperactive behaviour
HP:0000752
Irritability
HP:0000737
Oroticaciduria
HP:0003218
Poor school performance
HP:0001249
Reduced erythrocyte arginase activity
HP:4000203
Refusing to eat
HP:0002039
Spastic paraparesis
HP:0002313
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 23501004
- UMLS CUI
- C0268548
- Fully Specified Name
- Arginase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.