spondyloepiphyseal dysplasia Maroteaux type

Term ID

DOID:0111553

Synonyms

• 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. (2)

References

• GARD:994
• MIM:184095
• ORDO:263482
• SNOMEDCT_US_2023_03_01:719204007
• UMLS_CUI:C3159322

Ontology

Human Disease   ( DOID:0111553 )