diphthamide deficiency syndrome 1

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Summary

Literature (0)

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, developmental delay with short stature, dysmorphic facial features, and sparse hair 1, DPH1 syndrome, Loucks-Innes syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dph1

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)