Diphthamide Deficiency Syndrome 1
Disease ID: disease_node_20534
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| Dbxref | MIM:616901 |
|---|---|
| Subclassof | DOID_0070476 |
| Data Source | DOID |
| Synonyms | DEDSSH1, DPH1 syndrome, Loucks-Innes syndrome, developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| Doid Label | diphthamide deficiency syndrome 1 |
| Doid Description | A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. |
| Disease Node Id | disease_node_20534 |
| Doid Id | DOID_0070477 |
| Label | Diphthamide Deficiency Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Diphthamide Deficiency Syndrome(ID:disease_node_20531) (Disease)