Fanconi Renotubular Syndrome 3
Disease ID: disease_node_19160
Connections displayed (default: 10).
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| Dbxref | MIM:615605 |
|---|---|
| Subclassof | DOID_0050736, DOID_1062 |
| Data Source | DOID |
| Doid Label | Fanconi renotubular syndrome 3 |
| Doid Description | A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19160 |
| Doid Id | DOID_0080759 |
| Label | Fanconi Renotubular Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Fanconi Syndrome(ID:disease_node_3168) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)