OBO ID: DOID:0050775
Term Name: schneckenbecken dysplasia Search Ontology:
Synonyms:
Definition: An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia
References:
Ontology: Human Disease   ( DOID:0050775 )
Relationships
is a type of:
OTHER schneckenbecken dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC35D1 Schneckenbecken dysplasia 269250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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