FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondylometaphyseal dysplasia Sedaghatian type ID (Ontology) DOID:0112298 (Human Disease)
Definition A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.
Also Known As "congenital lethal metaphyseal chondrodysplasia" ; "Sedaghatian chondrodysplasia" ; "SMDS"
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DO.org
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 Genes
 spondylometaphyseal dysplasia Sedaghatian type       2
 for disease ribbon | spondylometaphyseal dysplasia Sedaghatian type       2
 model of | spondylometaphyseal dysplasia Sedaghatian type       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
osteochondrodysplasia              |
 |__spondylometaphyseal dysplasia__|
                                   spondylometaphyseal dysplasia Sedaghatian type  2 rec.
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Is a autosomal recessive disease
spondylometaphyseal dysplasia
Part of
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Synonyms
  • "congenital lethal metaphyseal chondrodysplasia" EXACT
    "Sedaghatian chondrodysplasia" EXACT
    "SMDS" EXACT OMO:0003012
Secondary IDs
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GARD:4993
MESH:C535798
MIM:250220
ORDO:93317
UMLS_CUI:C1855229