Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Boxer's nose deformity
Always present (100%)HP:0011120
Bulbous nose
Always present (100%)HP:0000414
Delayed language development
Always present (100%)HP:0000750
Global developmental delay, severe
Always present (100%)HP:0011344
Increased liver function tests
Always present (100%)HP:0002910
Increased width of the forehead
Always present (100%)HP:0000337
Inverted triangular face
Always present (100%)HP:0000325
Low-set ears
Always present (100%)HP:0000369
Muscular hypotonia
Always present (100%)HP:0001252
Corneal dystrophy
Very frequent (80-99%)HP:0001131
Enlarged liver
Very frequent (80-99%)HP:0002240
Reduced number of intrahepatic bile ducts
Very frequent (80-99%)HP:0006571
Slowed or blocked flow of bile from liver
Very frequent (80-99%)HP:0001396
Undergrowth
Very frequent (80-99%)HP:0001508
VSD
Very frequent (80-99%)HP:0001629
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Butterfly vertebral arch
Frequent (30-79%)HP:0004617
Coarse face
Frequent (30-79%)HP:0000280
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased nasal height
Frequent (30-79%)HP:0003189
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Prominent ear
Frequent (30-79%)HP:0000411
Round, full face
Frequent (30-79%)HP:0000311
Small pointed chin
Frequent (30-79%)HP:0000307
Spina bifida occulta
Frequent (30-79%)HP:0003298
Teleangiectasia of the skin
Frequent (30-79%)HP:0100585
Abnormal pupil morphology
Occasional (5-29%)HP:0000615
Abnormality of the ureter
Occasional (5-29%)HP:0000069
Atria septal defect
Occasional (5-29%)HP:0001631
Related Conditions
Multiple system malformation syndrome(parent)
Biliary tract dysplasia(parent)
Lesion of liver(parent)
Digestive system hereditary disorder(parent)
Hereditary neoplastic syndrome(parent)
Autosomal dominant hereditary disorder(parent)
Congenital anomaly of liver(parent)
Developmental hereditary disorder(parent)
Congenital anomaly of biliary tract(parent)
Quick Facts
- SNOMED CT
- 31742004
- UMLS CUI
- C0085280
- Fully Specified Name
- Arteriohepatic dysplasia (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.