Overview
Mucopolysaccharidosis, MPS-I-H 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.
Abdominal protuberance
Always present (100%)HP:0001538
Big calvaria
Always present (100%)HP:0000256
Bilateral ptosis
Always present (100%)HP:0001488
Dermatan sulphate excretion in urine
Always present (100%)HP:0008301
Diminished tissue alpha-L-iduronidase activity
Always present (100%)HP:6000910
Dysostosis multiplex
Always present (100%)HP:0000943
Heparan sulphate excretion in urine
Always present (100%)HP:0002159
Hepatosplenomegaly
Always present (100%)HP:0001433
Increased distance between eyes
Always present (100%)HP:0000316
Increased ossification of calvarial bones
Always present (100%)HP:0004490
Recurrent middle ear infection
Always present (100%)HP:0000403
Stiff joint
Always present (100%)HP:0001387
Thick skull bones
Always present (100%)HP:0004437
Umbilical hernia
Always present (100%)HP:0001537
Widened metaphyses
Always present (100%)HP:0003016
Abnormality of the tonsils
Very frequent (80-99%)HP:0100765
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Central hypotonia
Very frequent (80-99%)HP:0001252
CP
Very frequent (80-99%)HP:0100021
Enlarged liver
Very frequent (80-99%)HP:0002240
Frontal protuberance
Very frequent (80-99%)HP:0002007
Generalized hirsutism
Very frequent (80-99%)HP:0002230
Hernia
Very frequent (80-99%)HP:0100790
Large facies
Very frequent (80-99%)HP:0100729
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Mitral regurgitation
Very frequent (80-99%)HP:0001653
Mucopolysacchariduria
Very frequent (80-99%)HP:0008155
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Rhinitis
Very frequent (80-99%)HP:0012384
Short neck
Very frequent (80-99%)HP:0000470
Related Conditions
Quick Facts
- SNOMED CT
- 65327002
- UMLS CUI
- C0086795
- Fully Specified Name
- Mucopolysaccharidosis type I-H (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.