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Disease Ontology Browser
split hand-foot malformation 1 (DOID:0090021)
Alliance: disease page
Synonyms: SHFD1; SHFM1
Alt IDs: OMIM:183600, ICD10CM:Q71.6, ORDO:2440
Definition: A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/18/2018
MGI 6.12
The Jackson Laboratory