Disease & disorder
spondyloepimetaphyseal dysplasia, matrilin-3 type
MONDO:0012108
A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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MONDO disease family
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Recruiting studies by city
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Trial status
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Trial phase
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Study start year
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Investigated drug interventions
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Background context
spondyloepimetaphyseal dysplasia, matrilin-3 type
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.