Overview
Mitochondrial phosphate carrier deficiency 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.
Abnormal mitochondrial shape
HP:0012087
Blue discoloration of the skin
HP:0000961
Cardiomyopathy, hypertrophic
HP:0001639
Lacticacidosis
HP:0003128
Metabolic acidosis
HP:0001942
Peripheral hypotonia
HP:0001252
Respiratory function loss
HP:0002093
Quick Facts
- SNOMED CT
- 1187515001
- UMLS CUI
- C1835845
- Fully Specified Name
- Mitochondrial phosphate carrier deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 7
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.