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Mondo Disease Ontology
Last uploaded:
February 4, 2025
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Id | http://purl.obolibrary.org/obo/MONDO_0015358
http://purl.obolibrary.org/obo/MONDO_0015358
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Preferred Name | hereditary motor and sensory neuropathy |
Definitions |
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
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Synonyms | |
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) |
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label |
hereditary motor and sensory neuropathy
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prefLabel |
hereditary motor and sensory neuropathy
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database_cross_reference |
GARD:12685
icd11.foundation:1538134578
SCTID:398100001
MESH:D015417
NANDO:2200855
UMLS:C0027888
MEDGEN:45066
Orphanet:140450
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notation |
MONDO:0015358
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in_subset | |
id |
MONDO:0015358
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skos_exactMatch | |
subClassOf | |
type | |
has_exact_synonym |
HMSN
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