Fanconi Renotubular Syndrome 5
Disease ID: disease_node_19158
Connections displayed (default: 10).
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| Dbxref | MIM:618913 |
|---|---|
| Subclassof | DOID_0050737, DOID_1062 |
| Data Source | DOID |
| Synonyms | Acadian-variant Fanconi syndrome |
| Doid Label | Fanconi renotubular syndrome 5 |
| Doid Description | A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19158 |
| Doid Id | DOID_0080761 |
| Label | Fanconi Renotubular Syndrome 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Fanconi Syndrome(ID:disease_node_3168) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)