kozlowski rafinski klicharska syndrome

Preferred Label : kozlowski rafinski klicharska syndrome;

MeSH synonym : metaphyseal and epiphyseal dysplasia with unusual facies and cataract;

Details

Origin ID

C537509;

UMLS CUI

C2931513;

MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- cataract [MeSH Descriptor]
- facies [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
Record concept(s)
- Kozlowski Rafinski Klicharska syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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