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Browse result for Acromesomelic dysplasia
※ introduction Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.
Reference
Wiki: Acromesomelic dysplasia
Reference
Wiki: Acromesomelic dysplasia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD04433 | P20594 | 4882 | NPR2 | Atrial natriuretic peptide receptor 2 | Homo sapiens |
| PTMD05117 | P43026 | 8200 | GDF5 | Growth/differentiation factor 5 | Homo sapiens |
