Overview
Oculogastrointestinal muscular dystrophy 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 swelling
Very frequent (80-99%)HP:0003270
Abnormal gastric mucosa morphology
Very frequent (80-99%)HP:0004295
Cachexia
Very frequent (80-99%)HP:0004326
Eye drop
Very frequent (80-99%)HP:0000508
Gastrointestinal disease
Very frequent (80-99%)HP:0011024
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Intestinal pseudoobstruction
Very frequent (80-99%)HP:0004389
Muscle wasting
Very frequent (80-99%)HP:0003202
Myopathy
Very frequent (80-99%)HP:0003198
Spontaneous esophageal perforation
Very frequent (80-99%)HP:0005203
Abnormal mitral valve morphology
Occasional (5-29%)HP:0001633
Abdominal discomfort
HP:0002027
CPEO
HP:0000544
Delayed gastric emptying
HP:0002578
Eye muscle paralysis
HP:0000602
Laboratory abnormality
HP:0001939
Malnutrition
HP:0004395
Peripheral neuropathy
HP:0009830
Wider than typical opening or gap
HP:0002617
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Congenital anomaly of visual system(parent)
Pseudo-obstruction of intestine(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of the visual system(parent)
Congenital anomaly of intestinal tract(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 722060007
- UMLS CUI
- C1848586
- Fully Specified Name
- Oculogastrointestinal muscular dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.