loading...| Preferred Name | Hereditary Sensory and Motor Neuropathy | |
| Synonyms |
Dejerine Sottas Disease Hereditary, Type VII, Motor and Sensory Neuropathy Dejerine Sottas Neuropathy HMSN Type VIIs Syndrome, Dejerine-Sottas Hereditary Motor and Sensory Neuropathy Dejerine-Sottas Syndrome Dejerine-Sottas Neuropathy Hereditary Motor and Sensory Neuropathy 3 HMSN Type IIIs HMSN Type VII Hereditary Motor and Sensory Neuropathies Dejerine-Sottas Disease Neuropathy, Dejerine-Sottas Type VII, HMSN Charcot-Marie-Tooth Disease, Type 3 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f HMSN Type III Dejerine-Sottas Hypertrophic Neuropathy Hereditary Motor and Sensory Neuropathy Type III HMSN3 HMSN Hypertrophic Neuropathy of Dejerine Sottas Hypertrophic Neuropathy of Dejerine-Sottas Dejerine Sottas Syndrome Hereditary, Type III, Motor and Sensory Neuropathy Disease, Dejerine-Sottas Charcot Marie Tooth Disease, Type 3 Herditary Sensory and Motor Neuropathy Neuropathies, Hereditary Motor and Sensory CMT4f |
|
| 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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D015417 |
|
| altLabel |
Dejerine Sottas Disease Hereditary, Type VII, Motor and Sensory Neuropathy Dejerine Sottas Neuropathy HMSN Type VIIs Syndrome, Dejerine-Sottas Hereditary Motor and Sensory Neuropathy Dejerine-Sottas Syndrome Dejerine-Sottas Neuropathy Hereditary Motor and Sensory Neuropathy 3 HMSN Type IIIs HMSN Type VII Hereditary Motor and Sensory Neuropathies Dejerine-Sottas Disease Neuropathy, Dejerine-Sottas Type VII, HMSN Charcot-Marie-Tooth Disease, Type 3 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f HMSN Type III Dejerine-Sottas Hypertrophic Neuropathy Hereditary Motor and Sensory Neuropathy Type III HMSN3 HMSN Hypertrophic Neuropathy of Dejerine Sottas Hypertrophic Neuropathy of Dejerine-Sottas Dejerine Sottas Syndrome Hereditary, Type III, Motor and Sensory Neuropathy Disease, Dejerine-Sottas Charcot Marie Tooth Disease, Type 3 Herditary Sensory and Motor Neuropathy Neuropathies, Hereditary Motor and Sensory CMT4f |
|
| AN |
do not confuse with HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0027888 C0011195 C0019816 |
|
| DC |
1 |
|
| 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) |
|
| DX |
19880101 |
|
| HN |
2000(1989) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2000; see NEUROPATHIES, HEREDITARY MOTOR AND SENSORY 1988-1999 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C563517 http://purl.bioontology.org/ontology/MESH/C536965 http://purl.bioontology.org/ontology/MESH/C564269 http://purl.bioontology.org/ontology/MESH/C563702 http://purl.bioontology.org/ontology/MESH/C564655 http://purl.bioontology.org/ontology/MESH/C565492 http://purl.bioontology.org/ontology/MESH/C562851 http://purl.bioontology.org/ontology/MESH/C536546 http://purl.bioontology.org/ontology/MESH/C564947 http://purl.bioontology.org/ontology/MESH/C564948 http://purl.bioontology.org/ontology/MESH/C537626 http://purl.bioontology.org/ontology/MESH/C566575 http://purl.bioontology.org/ontology/MESH/C537583 http://purl.bioontology.org/ontology/MESH/C535813 http://purl.bioontology.org/ontology/MESH/C535717 http://purl.bioontology.org/ontology/MESH/C563562 |
|
| MDA |
19991108 |
|
| MMR |
20180630 |
|
| MN |
C10.574.500.495 C10.668.829.800.300 C10.500.300 C16.131.666.300 C16.320.400.375 |
|
| notation |
D015417 |
|
| prefLabel |
Hereditary Sensory and Motor Neuropathy |
|
| TERMUI |
T755169 T745673 T045523 T371177 T817093 T769515 T045522 T811481 T045519 T371167 T811486 T817092 T045518 T045524 T811480 T817094 T045521 T817089 T750855 T811482 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) NLM (2013) NLM (2010) NLM (1988) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D009421 |