FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepiphyseal dysplasia Maroteaux type ID (Ontology) DOID:0111553 (Human Disease)
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.
Also Known As "Brachyolmia Type 2" ; "Pseudo-Morquio syndrome type 2" ; "SED, Maroteaux type" (for all, see Synonyms field below)
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 Genes
 spondyloepiphyseal dysplasia Maroteaux type       1
 for disease ribbon | spondyloepiphyseal dysplasia Maroteaux type       1
 model of | spondyloepiphyseal dysplasia Maroteaux type       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease____
osteochondrodysplasia             |
 |__spondyloepiphyseal dysplasia__|
                                  spondyloepiphyseal dysplasia Maroteaux type  1 rec.
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Is a autosomal dominant disease
spondyloepiphyseal dysplasia
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Synonyms
  • "Brachyolmia Type 2" EXACT
    "Pseudo-Morquio syndrome type 2" EXACT
    "SED, Maroteaux type" EXACT
    "spondyloepiphyseal dysplasia of Maroteaux" EXACT
Secondary IDs
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GARD:994
MIM:184095
ORDO:263482
SNOMEDCT_US_2023_03_01:719204007
UMLS_CUI:C3159322