Smith-McCort dysplasia 1 - Ontology Browser

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Term:

Smith-McCort dysplasia 1 (DOID:0081270)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)

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Smith-McCort dysplasia + is-a

Smith-McCort dysplasia 1

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. (DO)

Smith-McCort dysplasia 2

Synonyms
Exact Synonyms:	SMC1
Broad Synonyms:	DYM-RELATED CONDITION
Primary IDs:	OMIM:607326
Alternate IDs:	DOID:9001494
Definition Sources:	https://pubmed.ncbi.nlm.nih.gov/9295067/ "DO" "DO"

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.