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DOID:0070477 - diphthamide deficiency syndrome 1
Disease Ontology Definition:A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.
Synonyms: DEDSSH1, DPH1 syndrome, Loucks-Innes syndrome, developmental delay with short stature, dysmorphic facial features, and sparse hair 1,
Xenbase Genes
:
dph1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
diphthamide deficiency syndrome (is_a)