Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aortic stenosis
Always present (100%)HP:0001650
Mitral valve stenosis
Always present (100%)HP:0001718
CP
Very frequent (80-99%)HP:0100021
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Mucopolysacchariduria
Very frequent (80-99%)HP:0008155
Nerve conduction abnormalities
Very frequent (80-99%)HP:0040129
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Skeletal anomalies
Very frequent (80-99%)HP:0000924
Coarse face
Frequent (30-79%)HP:0000280
Eclabium of lower lip
Frequent (30-79%)HP:0000232
Enlarged liver
Frequent (30-79%)HP:0002240
Large spleen
Frequent (30-79%)HP:0001744
Prominent lips
Frequent (30-79%)HP:0012471
Dysostosis multiplex
Occasional (5-29%)HP:0000943
Glaucoma
Occasional (5-29%)HP:0000501
Large mouth
Occasional (5-29%)HP:0000154
Nasal inflammation
Occasional (5-29%)HP:0012384
Retinal degeneration
Occasional (5-29%)HP:0000546
Sensorineural deafness
Occasional (5-29%)HP:0000407
Spastic paraparesis
Occasional (5-29%)HP:0002313
Stiff joint
Occasional (5-29%)HP:0001387
Aortic valve regurgitation
HP:0001659
Carpal tunnel syndrome
HP:0012185
Cavus foot
HP:0001761
Cervical cord compression
HP:0002341
Enlarged mandible
HP:0000303
Flat nasal bridge
HP:0005280
Genu valga
HP:0002857
Hypertrophy of cheeks
HP:0000293
Increased nasal width
HP:0000445
Related Conditions
Quick Facts
- SNOMED CT
- 73123008
- UMLS CUI
- C0026708
- Fully Specified Name
- Mucopolysaccharidosis type I-S (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.