FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term diphthamide deficiency syndrome 1 ID (Ontology) DOID:0070477 (Human Disease)
Definition A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.
Also Known As "DEDSSH1" ; "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" ; "DPH1 syndrome" (for all, see Synonyms field below)
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 Genes
 diphthamide deficiency syndrome 1       1
 for disease ribbon | diphthamide deficiency syndrome 1       1
 model of | diphthamide deficiency syndrome 1       1
Spanning Tree (Parents/Children)
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autosomal recessive disease____
amino acid metabolic disorder__|
                               diphthamide deficiency syndrome
                                |__diphthamide deficiency syndrome 1  1 rec.
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Synonyms
  • "DEDSSH1" EXACT OMO:0003012
    "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" EXACT
    "DPH1 syndrome" EXACT
    "Loucks-Innes syndrome" EXACT
Secondary IDs
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MIM:616901