Search Ontology:
Human Disease

schneckenbecken dysplasia

Term ID
DOID:0050775
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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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