Search Ontology:
Human Disease

Smith-McCort dysplasia 1

Term ID
DOID:0081270
Synonyms
Definition
A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/9295067/
References
Ontology
Human Disease   ( DOID:0081270 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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