Overview
Ophthalmomandibulomelic dysplasia 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.
Abnormality of bone mineral density
Very frequent (80-99%)HP:0004348
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Blindness
Very frequent (80-99%)HP:0000618
Dislocated radioulnar joints
Very frequent (80-99%)HP:0006439
Fused forearm bones
Very frequent (80-99%)HP:0002974
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Lateral humeral condyle aplasia
Very frequent (80-99%)HP:0006441
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Mesomelia
Very frequent (80-99%)HP:0003027
Micromelia
Very frequent (80-99%)HP:0002983
Obtuse angle of mandible
Very frequent (80-99%)HP:0005446
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Radiohumeral dislocation
Very frequent (80-99%)HP:0003042
Rigidity of the temporomandibular joint
Very frequent (80-99%)HP:0012478
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Ulnar deviated club hands
Very frequent (80-99%)HP:0006055
Glaucoma
Occasional (5-29%)HP:0000501
Increased corneal diameter
Occasional (5-29%)HP:0000485
Abnormality of the chest
HP:0000765
Corneal stromal opacity
HP:0007759
Decreased mobility 3rd-5th fingers
HP:0006169
Radial bowing
HP:0002986
Short fibula
HP:0003038
Valgus hip
HP:0002673
Quick Facts
- SNOMED CT
- 715484003
- UMLS CUI
- C1833872
- Fully Specified Name
- Ophthalmomandibulomelic dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.