Overview
Histidine transport defect 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.
Decreased volume of upper lip
Always present (100%)HP:0000219
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Elevated histidine in urine
Very frequent (80-99%)HP:0002927
Hypoplastic toenails
Very frequent (80-99%)HP:0001800
Impaired histidine renal tubular absorption
Very frequent (80-99%)HP:0008666
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Large ears
Very frequent (80-99%)HP:0000400
Low blood sugar
Very frequent (80-99%)HP:0001943
Mental-retardation
Very frequent (80-99%)HP:0001249
Retarded ossification
Very frequent (80-99%)HP:0002750
Rounded middle bone of finger
Very frequent (80-99%)HP:0005844
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Flat philtrum
HP:0000319
Generalized myoclonic seizure
HP:0002123
Increased length of philtrum
HP:0000343
Short middle phalanx of finger
HP:0005819
Quick Facts
- SNOMED CT
- 78311009
- UMLS CUI
- C0268642
- Fully Specified Name
- Histidine transport defect (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.