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Disease Ontology Browser
diphthamide deficiency syndrome 2 (DOID:0070478)
Alliance: disease page
Synonyms: DEDSSH2; developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Alt IDs: OMIM:620062
Definition: A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory