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Human Disease
spondyloepiphyseal dysplasia Maroteaux type
- Term ID
- DOID:0111553
- Synonyms
-
- Brachyolmia Type 2
- Pseudo-Morquio syndrome type 2
- SED, Maroteaux type
- 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. (2)
- References
-
- GARD:994
- MIM:184095
- ORDO:263482
- Ontology
- Human Disease ( DOID:0111553 )
- is a type of
Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
TRPV4 | SED, Maroteaux type | spondyloepiphyseal dysplasia Maroteaux type | 184095 |
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Zebrafish Models