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DOID:0070478 - diphthamide deficiency syndrome 2
Disease Ontology Definition:A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.
Synonyms: DEDSSH2, developmental delay with short stature, dysmorphic facial features, and sparse hair 2,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
diphthamide deficiency syndrome (is_a)