| Metadata | |
|---|---|
| ID | DOID:0070477 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070477 Copy |
| Name | diphthamide deficiency syndrome 1 |
| Definition | A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/30877278/ |
| Xrefs | |
| SKOS |
exactMatch MIM:616901 |
| Synonyms |
DEDSSH1 [EXACT] developmental delay with short stature, dysmorphic facial features, and sparse hair 1 [EXACT] DPH1 syndrome [EXACT] Loucks-Innes syndrome [EXACT] |
| Parent Relationships |