Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0014566> ?p ?o ?g. }
- MONDO_0014566 IAO_0000115 "Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated." @default.
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- MONDO_0014566 RO_0000053 PATO_0000001 @default.
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- MONDO_0014566 RO_0002162 OBI_0100026 @default.
- MONDO_0014566 RO_0002162 PCO_0000031 @default.
- MONDO_0014566 RO_0002320 BFO_0000001 @default.
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- MONDO_0014566 RO_0002320 BFO_0000040 @default.
- MONDO_0014566 RO_0002320 CARO_0001010 @default.
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