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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01830 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | ... limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease. | Congenital malformation | PAM16 [HSA:51025] [KO:K17805] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |