Overview
Johanson-Blizzard 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.
Alanine aminotransferase increased
Always present (100%)HP:0031964
Ascites
Always present (100%)HP:0001541
Cafe-au-lait spots
Always present (100%)HP:0000957
Conjugated hyperbilirubinemia
Always present (100%)HP:0002908
Conjunctival icterus
Always present (100%)HP:0032106
Downturned corners of mouth
Always present (100%)HP:0002714
Elevated gamma-glutamyltransferase level
Always present (100%)HP:0030948
Elevated serum aspartate aminotransferase
Always present (100%)HP:0031956
Enlarged liver
Always present (100%)HP:0002240
Hepatic insufficiency
Always present (100%)HP:0001399
Increased length of philtrum
Always present (100%)HP:0000343
Intrahepatic cholestasis
Always present (100%)HP:0001406
Large spleen
Always present (100%)HP:0001744
Liver fibrosis
Always present (100%)HP:0001395
Low birth weight
Always present (100%)HP:0001518
Mongoloid slant
Always present (100%)HP:0000582
Portal hypertension
Always present (100%)HP:0001409
Primary hypothyroidism
Always present (100%)HP:0000832
Severe intrauterine growth retardation
Always present (100%)HP:0008846
Abnormal distribution of hair
Very frequent (80-99%)HP:0010720
Abnormality of the pancreas
Very frequent (80-99%)HP:0001732
Decreased body height
Very frequent (80-99%)HP:0004322
Dental anomalies
Very frequent (80-99%)HP:0000164
Hair loss
Very frequent (80-99%)HP:0001596
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Pancreatic insufficiency
Very frequent (80-99%)HP:0001738
Postnatal failure to thrive
Very frequent (80-99%)HP:0001508
Small nasal alae
Very frequent (80-99%)HP:0000430
Small nose
Very frequent (80-99%)HP:0003196
Quick Facts
- SNOMED CT
- 75979009
- UMLS CUI
- C0175692
- Fully Specified Name
- Johanson-Blizzard syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.