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Disease Ontology Browser
diphthamide deficiency syndrome 1 (DOID:0070477)
Alliance: disease page
Synonyms: DEDSSH1; developmental delay with short stature, dysmorphic facial features, and sparse hair 1; DPH1 syndrome; Loucks-Innes syndrome
Alt IDs: OMIM:616901
Definition: A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.

Disease References using Mouse Models (1)
Contributing Projects:
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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11/19/2024
MGI 6.24 		The Jackson Laboratory