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Browse result for Kenny-Caffey syndrome
※ introduction A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.
Reference
DiseaseOntology: Kenny-Caffey syndrome
Reference
DiseaseOntology: Kenny-Caffey syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD11660 | Q96PZ2 | 63901 | FAM111A | Serine protease FAM111A | Homo sapiens |
