spondyloepiphyseal dysplasia, MacDermot type
MONDO:0008472Mondo
Findings
No curated finding names spondyloepiphyseal dysplasia, MacDermot type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
Definition from the Mondo Disease Ontology (MONDO:0008472), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: spondyloepiphyseal dysplasia, MacDermot type
- Also called
- spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome