Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Nanophthalmos
Always present (100%)HP:0000568
Uveitis
Always present (100%)HP:0000554
Bilateral fifth digit clinodactyly
Very frequent (80-99%)HP:0004209
Broad columella
Very frequent (80-99%)HP:0010761
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased corneal diameter
Very frequent (80-99%)HP:0000482
Defective tooth enamel
Very frequent (80-99%)HP:0000682
Dental agenesis
Very frequent (80-99%)HP:0009804
Ear anomaly
Very frequent (80-99%)HP:0000598
Joint contracture of the 5th finger
Very frequent (80-99%)HP:0009183
Nasal malformation
Very frequent (80-99%)HP:0000366
Partial syndactyly
Very frequent (80-99%)HP:0006101
Pinched bridge of nose
Very frequent (80-99%)HP:0000446
Premature exfoliation of primary teeth
Very frequent (80-99%)HP:0006323
Rotting teeth
Very frequent (80-99%)HP:0000670
Small nasal alae
Very frequent (80-99%)HP:0000430
Syndactyly of feet
Very frequent (80-99%)HP:0001770
Abnormal compact bone morphology
Frequent (30-79%)HP:0003103
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Abnormal metaphysis morphology
Frequent (30-79%)HP:0000944
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Abnormality of vision
Frequent (30-79%)HP:0000504
Ataxia
Frequent (30-79%)HP:0001251
Bone overgrowth
Frequent (30-79%)HP:0100774
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Curly hair
Frequent (30-79%)HP:0002212
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysplastic ears
Frequent (30-79%)HP:0000377
Enlargement of skull bones
Frequent (30-79%)HP:0004437
Eye disease
Frequent (30-79%)HP:0000478
Quick Facts
- SNOMED CT
- 38215007
- UMLS CUI
- C0812437
- Fully Specified Name
- Oculodentodigital syndrome (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.