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nonsyndromic congenital nail disorder 3
Summary
- Definition
- A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.
- Super Class
- autosomal dominant disease autosomal recessive disease nonsyndromic congenital nail disorder
External Links
- Disease Ontology
- DOID:0080081
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51178 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000787 | Nephrolithiasis |
| HP:0009720 | Adenoma sebaceum |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0005978 | Type II diabetes mellitus |
| HP:0000498 | Blepharitis |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0008388 | Abnormal toenail morphology |
| HP:0000613 | Photophobia |
| HP:0001598 | Concave nail |
| HP:0000007 | Autosomal recessive inheritance |
