autosomal recessive axonal Charcot-Marie-Tooth disease type 2
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19601 |
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autosomal recessive axonal hereditary motor and sensory neuropathy
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19601 |
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axonal hereditary motor and sensory neuropathy, autosomal recessive
|
19601 |
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cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency
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9601 |
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cartilage-hair hypoplasia variant, skeletal manifestations only
|
9601 |
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metaphyseal dysplasia without hypotrichosis
|
9601 |
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metaphyseal dysplasia without hypotrichosis; MDWH
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http://purl.obolibrary.org/obo/MONDO_0009601 |
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