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Browse result for Hypertrichotic osteochondrodysplasia
※ introduction Cant¨² syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.[6][5] Less than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.[5]
Reference
Wiki: Hypertrichotic osteochondrodysplasia
Reference
Wiki: Hypertrichotic osteochondrodysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02927 | O60706 | 10060 | ABCC9 | ATP-binding cassette sub-family C member 9 | Homo sapiens |
| PTMD07043 | Q15842 | 3764 | KCNJ8 | ATP-sensitive inward rectifier potassium channel 8 channel Kir6.1) | Homo sapiens |
