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spondyloepiphyseal dysplasia Maroteaux type
Summary
- Synonym
-
- Brachyolmia Type 2
- Pseudo-Morquio syndrome type 2
- SED, Maroteaux type
- spondyloepiphyseal dysplasia of Maroteaux
- Definition
- An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
- Super Class
- autosomal dominant disease spondyloepiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0111553
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
