Diphthamide Deficiency Syndrome
Disease ID: disease_node_20531
Connections displayed (default: 10).
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| Dbxref | MIM:PS616901, ORDO:459061 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | DEDSSH, craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome, developmental delay with short stature, dysmorphic facial features, and sparse hair |
| Doid Label | diphthamide deficiency syndrome |
| Doid Description | An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). |
| Has Phenotype | HP_0008070, HP_0004322, HP_0001263 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20531 |
| Doid Id | DOID_0070476 |
| Label | Diphthamide Deficiency Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties(ID:disease_node_20532) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Diphthamide Deficiency Syndrome 1(ID:disease_node_20534) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Diphthamide Deficiency Syndrome 2(ID:disease_node_20533) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)