Disease & disorder

spondyloepimetaphyseal dysplasia, PAPSS2 type

MONDO:0019666

A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms4

Research intelligence

Directly mapped studies only · unique clinical trials

Current 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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Investigated drug interventions

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Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.