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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
  • spondyloepiphyseal dysplasia of Maroteaux
(all 4)
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
(all 5)
Ontology
Human Disease   ( DOID:0111553 )
Relationships
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Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
TRPV4SED, Maroteaux typespondyloepiphyseal dysplasia Maroteaux type184095
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Zebrafish Models