Overview
Hereditary orotic aciduria 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 haemoglobin
Very frequent (80-99%)HP:0001903
Increased levels of animo acids in urine
Very frequent (80-99%)HP:0003355
Orotic acid crystalluria
Very frequent (80-99%)HP:0003526
Oroticaciduria
Very frequent (80-99%)HP:0003218
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormal toenail morphology
Frequent (30-79%)HP:0008388
Abnormality of the ureter
Frequent (30-79%)HP:0000069
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Impaired T cell function
Frequent (30-79%)HP:0011840
Increased distance between eyes
Frequent (30-79%)HP:0000316
Large spleen
Frequent (30-79%)HP:0001744
PDA
Frequent (30-79%)HP:0001643
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
respiratory infections, recurrent
Frequent (30-79%)HP:0002205
Quick Facts
- SNOMED CT
- 16242007
- UMLS CUI
- C0220987
- Fully Specified Name
- Hereditary orotic aciduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.