Overview
Hereditary orotic aciduria, type 1 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.
Atria septal defect
Occasional (5-29%)HP:0001631
Cognitive delay
Occasional (5-29%)HP:0001263
Impaired T cell function
Occasional (5-29%)HP:0011840
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
VSD
Occasional (5-29%)HP:0001629
Anisocytosis
HP:0011273
Folate-unresponsive megaloblastic anemia
HP:0004826
High urine occult blood
HP:0000790
Hypochromia
HP:0032231
Orotic acid crystalluria
HP:0003526
Oroticaciduria
HP:0003218
Poikilocytosis
HP:0004447
Pyrimidine-responsive megaloblastic anemia
HP:0003339
Reduced orotidine 5-prime phosphate decarboxylase level
HP:0003267
Quick Facts
- SNOMED CT
- 69525003
- UMLS CUI
- C0268130
- Fully Specified Name
- Hereditary orotic aciduria, type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.