Overview
Byler syndrome 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.
Conjugated hyperbilirubinemia
Always present (100%)HP:0002908
Yellowing of the skin
Always present (100%)HP:0000952
Decreased body height
Very frequent (80-99%)HP:0004322
Enlarged liver
Very frequent (80-99%)HP:0002240
Skin itching
Very frequent (80-99%)HP:0000989
Frequent nosebleeds
Frequent (30-79%)HP:0000421
Gallstones
Frequent (30-79%)HP:0001081
Weak and soft bones
Frequent (30-79%)HP:0002748
Wheezing
Frequent (30-79%)HP:0030828
Osteopenia
Occasional (5-29%)HP:0000938
Cirrhosis
HP:0001394
Diarrhea
HP:0002014
Fat malabsorption
HP:0002630
Intrahepatic cholestasis with episodic jaundice
HP:0006575
Large spleen
HP:0001744
Postnatal failure to thrive
HP:0001508
Related Conditions
Quick Facts
- SNOMED CT
- 1155913007
- UMLS CUI
- C4551898
- Fully Specified Name
- Progressive familial intrahepatic cholestasis type 1 (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.