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| created at |
2024-09-19 07:43:07 UTC |
| updated at |
2024-09-23 18:19:38 UTC |
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MedGen CUI
Namespace: https://www.ncbi.nlm.nih.gov/medgen/
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622,528 entries
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There is 0 pattern entry.
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AR-CMT2B5
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C4749824 |
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Autosomal recessive Charcot-Marie-Tooth disease type 2B5
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C4749824 |
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autosomal recessive Charcot-Marie-Tooth disease type 2B5
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C4749824 |
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Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency
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C4749824 |
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Severe early-onset axonal neuropathy due to NEFL deficiency
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C4749824 |
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severe early-onset axonal neuropathy due to NEFL deficiency
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C4749824 |
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Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
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C4749824 |
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severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
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C4749824 |
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Charcot-Marie-Tooth disease type 2B5
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C4749824 |
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SEOAN due to NEFL deficiency
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C4749824 |
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