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 2 ID (Ontology) DOID:0070478 (Human Disease)
Definition A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.
Also Known As "DEDSSH2" ; "developmental delay with short stature, dysmorphic facial features, and sparse hair 2"
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 Genes
 diphthamide deficiency syndrome 2       1
 for disease ribbon | diphthamide deficiency syndrome 2       1
 model of | diphthamide deficiency syndrome 2       1
Spanning Tree (Parents/Children)
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autosomal recessive disease____
amino acid metabolic disorder__|
                               diphthamide deficiency syndrome
                                |__diphthamide deficiency syndrome 2  1 rec.
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Synonyms
  • "DEDSSH2" EXACT OMO:0003012
    "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" EXACT
Secondary IDs
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MIM:620062