OBO ID: DOID:0112298
Term Name: spondylometaphyseal dysplasia Sedaghatian type Search Ontology:
Synonyms:
  • congenital lethal metaphyseal chondrodysplasia
  • Sedaghatian chondrodysplasia
  • SMDS
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. https://pubmed.ncbi.nlm.nih.gov/24706940/
References:
Ontology: Human Disease   ( DOID:0112298 )
Relationships
is a type of:
OTHER spondylometaphyseal dysplasia Sedaghatian type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type 250220
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.