Overview
Hawkinsinuria 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.
Hawkinsin high in urine
Always present (100%)HP:0034457
Hypertyrosinemia
Always present (100%)HP:0003231
4-hydroxyphenylacetic aciduria
Very frequent (80-99%)HP:0003607
4-Hydroxyphenylpyruvic aciduria
Very frequent (80-99%)HP:0003161
Abnormal circulating tyrosine concentration
Very frequent (80-99%)HP:0010917
Fine hair
Very frequent (80-99%)HP:0002213
Hypotrichosis
Very frequent (80-99%)HP:0008070
Metabolic acidosis
Very frequent (80-99%)HP:0001942
Undergrowth
Very frequent (80-99%)HP:0001508
Decreased size of cranium
Frequent (30-79%)HP:0000252
Mental retardation, mild
Frequent (30-79%)HP:0001256
Muscular hypotonia
Frequent (30-79%)HP:0001252
Restlessness
Frequent (30-79%)HP:0000711
Hypothyroidism
Occasional (5-29%)HP:0000821
Elevated urine hydroxyphenyllactic acid level
HP:6001004
Quick Facts
- SNOMED CT
- 414380008
- UMLS CUI
- C2931042
- Fully Specified Name
- Hawkinsinuria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 15
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.