Search Ontology:
Human Disease

Smith-McCort dysplasia 2

Term ID
DOID:0081271
Synonyms
Definition
A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. https://pubmed.ncbi.nlm.nih.gov/23042644/
References
Ontology
Human Disease   ( DOID:0081271 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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