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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WWQ2 | Inactive heparanase-2 | |
| Q9Y251 | Heparanase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000796 | Urethral obstruction |
| HP:0000072 | Hydroureter |
| HP:0001999 | Abnormal facial shape |
| HP:0005346 | Abnormal facial expression |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0010481 | Urethral valve |
| HP:0000805 | Enuresis |
