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| created at |
2025-11-26 04:53:50 UTC |
| updated at |
2025-11-27 01:00:35 UTC |
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Mondo ID - Mondo Label
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30,114 entries
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There is 0 pattern entry.
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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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0009678 |
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muscular dystrophy, congenital, with rapid progression
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0009682 |
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carnitine palmitoyl transferase II deficiency, myopathic form
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0009704 |
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hereditary myopathy with lactic acidosis due to ISCU deficiency
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0009706 |
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Bailey-Bloch congenital myopathy
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0009722 |
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galactosialidosis
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0009737 |
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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0009747 |
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odonto-onycho-dermal dysplasia
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0009773 |
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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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0009783 |
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3-methylglutaconic aciduria type 3
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0009787 |
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congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
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0009803 |
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BH4-deficient hyperphenylalaninemia A
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0009863 |
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phosphoenolpyruvate carboxykinase deficiency, cytosolic
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0009866 |
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lethal congenital glycogen storage disease of heart
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0009867 |
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pili torti
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0009870 |
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