Overview
Hereditary ovalocytosis 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.
Abnormality of erythroid lineage cell
Always present (100%)HP:0001877
Hereditary elliptocytosis
Frequent (30-79%)HP:0004445
Increased red cell osmotic fragility
Frequent (30-79%)HP:0005502
Congenital hemolytic anemia
Occasional (5-29%)HP:0004804
Hemolytic anaemia
Occasional (5-29%)HP:0001878
High blood bilirubin levels
Occasional (5-29%)HP:0002904
Hyperbilirubinemia, neonatal
Occasional (5-29%)HP:0003265
Large spleen
Occasional (5-29%)HP:0001744
Open skin sore
Occasional (5-29%)HP:0200042
Poikilocytosis
Occasional (5-29%)HP:0004447
Poor exercise tolerance
Occasional (5-29%)HP:0003546
Prolonged neonatal jaundice
Occasional (5-29%)HP:0006579
Red cell stomatocytosis
Occasional (5-29%)HP:0004446
Reticulocytosis
Occasional (5-29%)HP:0001923
Tiredness
Occasional (5-29%)HP:0012378
Yellowing of the skin
Occasional (5-29%)HP:0000952
Abdominal discomfort
Very rare (1-4%)HP:0002027
Chills
Very rare (1-4%)HP:0025143
Frontal protuberance
Very rare (1-4%)HP:0002007
Gallstones
Very rare (1-4%)HP:0001081
Growth delay as children
Very rare (1-4%)HP:0008897
Hydrops fetalis
Very rare (1-4%)HP:0001789
Pyrexia
Very rare (1-4%)HP:0001945
Related Conditions
Hereditary elliptocytosis due to glycophorin C deficiency(child)
Hereditary elliptocytosis due to deficiency of protein 4.1(child)
Hereditary elliptocytosis due to beta spectrin-ankyrin interaction(child)
Hereditary elliptocytosis due to beta spectrin defect in self-association(child)
Hereditary elliptocytosis due to abnormal protein 4.1(child)
Hereditary elliptocytosis due to alpha spectrin defect(child)
Hereditary elliptocytosis with transient poikilocytosis(child)
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome(child)
Homozygous hereditary elliptocytosis(child)
Hereditary pyropoikilocytosis(child)
Erythrocyte membrane abnormality(parent)
Congenital hemolytic anemia(parent)
Hereditary hemolytic anemia(parent)
Congenital malformation(parent)
Developmental hereditary disorder(parent)
Anemia due to membrane defect(parent)
Quick Facts
- SNOMED CT
- 191169008
- UMLS CUI
- C0013902
- Fully Specified Name
- Hereditary elliptocytosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.