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MIRAGE
urofacial syndrome
Summary
- Synonym
-
- Ochoa syndrome
- hydronephrosis with peculiar facial expression
- Definition
- A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050816
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O94898 | Leucine-rich repeats and immunoglobulin-like domains protein 2 | |
| Q8WWQ2 | Inactive heparanase-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| B2RY83 | Inactive heparanase-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000076 | Vesicoureteral reflux |
| HP:0000822 | Hypertension |
| HP:0000020 | Urinary incontinence |
| HP:0002019 | Constipation |
| HP:0000126 | Hydronephrosis |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0001959 | Polydipsia |
| HP:0000083 | Renal insufficiency |
| HP:0002607 | Bowel incontinence |
| HP:0000028 | Cryptorchidism |
