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nephrotic syndrome type 14
Summary
- Definition
- A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080265
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95470 | Sphingosine-1-phosphate lyase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003676 | Progressive |
| HP:0000846 | Adrenal insufficiency |
| HP:0011463 | Childhood onset |
| HP:0001251 | Ataxia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002376 | Developmental regression |
| HP:0012588 | Steroid-resistant nephrotic syndrome |
| HP:0000969 | Edema |
| HP:0008064 | Ichthyosis |
| HP:0000135 | Hypogonadism |
