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Disease Ontology Browser
diphthamide deficiency syndrome (DOID:0070476)
Alliance: disease page
Synonyms: craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; DEDSSH; developmental delay with short stature, dysmorphic facial features, and sparse hair
Alt IDs: OMIM:PS616901, ORDO:459061
Definition: An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).

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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11/12/2024
MGI 6.24 		The Jackson Laboratory