loading...| Preferred Name | Spastic Paraplegia, Hereditary | |
| Synonyms |
X-Linked, Spastic Paraplegia, Hereditary Spastic Paraplegias, Hereditary Hereditary Motor Sensory Neuropathy with Pyramidal Signs Paraplegias, Hereditary Spastic Hereditary, Spastic Paraplegia, Autosomal Dominant Hereditary Autosomal Recessive Spastic Paraplegia Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy Spastic Paraplegia, Autosomal Recessive, Hereditary HMSN V (Hereditary Motor and Sensory Neuropathy Type V) Paraplegia, Hereditary Spastic Hereditary, Spastic Paraplegia, X-Linked Recessive Hereditary Spastic Paraplegias Hereditary Motor And Sensory Neuropathy V Type V Hereditary Motor and Sensory Neuropathy Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Autosomal Recessive Spastic Paraplegia, Hereditary HMSN Type V Spastic Paraplegia 2 Spastic Paraplegia Type 2 Spastic Paraplegia, Hereditary, Autosomal Recessive Spastic Paraplegia, Hereditary, Autosomal Dominant Spastic Paraplegia, Autosomal Dominant, Hereditary Hereditary X-Linked Recessive Spastic Paraplegia Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia Hereditary X Linked Recessive Spastic Paraplegia Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant Hereditary Motor and Sensory Neuropathy 5 Autosomal Dominant Spastic Paraplegia Hereditary Hereditary Autosomal Dominant Spastic Paraplegia HMSN V X Linked Recessive Hereditary Spastic Paraplegia CMT with Pyramidal Features Autosomal Dominant Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia, Autosomal Recessive Spastic Paraplegia, X-Linked Recessive, Hereditary Spastic Paraplegia, Hereditary, X-Linked Recessive Autosomal Recessive Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia X-linked Recessive Hereditary Spastic Paraplegia HMSN 5 Type V, HMSN Hereditary Motor-Sensory Neuropathy with Pyramidal Signs Paraplegia, Spastic, Hereditary Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant |
|
| Definitions |
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D015419 |
|
| altLabel |
X-Linked, Spastic Paraplegia, Hereditary Spastic Paraplegias, Hereditary Hereditary Motor Sensory Neuropathy with Pyramidal Signs Paraplegias, Hereditary Spastic Hereditary, Spastic Paraplegia, Autosomal Dominant Hereditary Autosomal Recessive Spastic Paraplegia Charcot-Marie-Tooth Disease with Pyramidal Features, Autosomal Dominant Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy Spastic Paraplegia, Autosomal Recessive, Hereditary HMSN V (Hereditary Motor and Sensory Neuropathy Type V) Paraplegia, Hereditary Spastic Hereditary, Spastic Paraplegia, X-Linked Recessive Hereditary Spastic Paraplegias Hereditary Motor And Sensory Neuropathy V Type V Hereditary Motor and Sensory Neuropathy Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Autosomal Recessive Spastic Paraplegia, Hereditary HMSN Type V Spastic Paraplegia 2 Spastic Paraplegia Type 2 Spastic Paraplegia, Hereditary, Autosomal Recessive Spastic Paraplegia, Hereditary, Autosomal Dominant Spastic Paraplegia, Autosomal Dominant, Hereditary Hereditary X-Linked Recessive Spastic Paraplegia Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia Hereditary X Linked Recessive Spastic Paraplegia Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant Hereditary Motor and Sensory Neuropathy 5 Autosomal Dominant Spastic Paraplegia Hereditary Hereditary Autosomal Dominant Spastic Paraplegia HMSN V X Linked Recessive Hereditary Spastic Paraplegia CMT with Pyramidal Features Autosomal Dominant Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia, Autosomal Recessive Spastic Paraplegia, X-Linked Recessive, Hereditary Spastic Paraplegia, Hereditary, X-Linked Recessive Autosomal Recessive Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia X-linked Recessive Hereditary Spastic Paraplegia HMSN 5 Type V, HMSN Hereditary Motor-Sensory Neuropathy with Pyramidal Signs Paraplegia, Spastic, Hereditary Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant |
|
| AN |
coordinate with GENES, DOMINANT or GENES, RECESSIVE if discussed |
|
| 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 |
C0751604 C0751603 C0751605 C0037773 C0751602 C4721916 |
|
| DC |
1 |
|
| definition |
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) |
|
| DX |
19910101 |
|
| HN |
1991(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 |
1991; see NEUROPATHIES, HEREDITARY MOTOR AND SENSORY 1989-1990 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537938 http://purl.bioontology.org/ontology/MESH/C537937 http://purl.bioontology.org/ontology/MESH/C535311 http://purl.bioontology.org/ontology/MESH/C567858 http://purl.bioontology.org/ontology/MESH/C567465 http://purl.bioontology.org/ontology/MESH/C567311 http://purl.bioontology.org/ontology/MESH/C564599 http://purl.bioontology.org/ontology/MESH/C566652 http://purl.bioontology.org/ontology/MESH/C565409 http://purl.bioontology.org/ontology/MESH/C567349 http://purl.bioontology.org/ontology/MESH/C538335 http://purl.bioontology.org/ontology/MESH/C536860 http://purl.bioontology.org/ontology/MESH/C536862 http://purl.bioontology.org/ontology/MESH/C536866 http://purl.bioontology.org/ontology/MESH/C536864 http://purl.bioontology.org/ontology/MESH/C536863 http://purl.bioontology.org/ontology/MESH/C536861 http://purl.bioontology.org/ontology/MESH/C536869 http://purl.bioontology.org/ontology/MESH/C536865 http://purl.bioontology.org/ontology/MESH/C536868 http://purl.bioontology.org/ontology/MESH/C566292 http://purl.bioontology.org/ontology/MESH/C565438 http://purl.bioontology.org/ontology/MESH/C536859 http://purl.bioontology.org/ontology/MESH/C536857 http://purl.bioontology.org/ontology/MESH/C536858 http://purl.bioontology.org/ontology/MESH/C536856 http://purl.bioontology.org/ontology/MESH/C567707 http://purl.bioontology.org/ontology/MESH/C566679 http://purl.bioontology.org/ontology/MESH/C537428 http://purl.bioontology.org/ontology/MESH/C567628 http://purl.bioontology.org/ontology/MESH/C536643 http://purl.bioontology.org/ontology/MESH/C536642 http://purl.bioontology.org/ontology/MESH/C536644 http://purl.bioontology.org/ontology/MESH/C566956 http://purl.bioontology.org/ontology/MESH/C537718 http://purl.bioontology.org/ontology/MESH/C563807 http://purl.bioontology.org/ontology/MESH/C565210 http://purl.bioontology.org/ontology/MESH/C565214 http://purl.bioontology.org/ontology/MESH/C566409 http://purl.bioontology.org/ontology/MESH/C535875 http://purl.bioontology.org/ontology/MESH/C580456 http://purl.bioontology.org/ontology/MESH/C580457 http://purl.bioontology.org/ontology/MESH/C580458 http://purl.bioontology.org/ontology/MESH/C537486 http://purl.bioontology.org/ontology/MESH/C537485 http://purl.bioontology.org/ontology/MESH/C537481 http://purl.bioontology.org/ontology/MESH/C537483 http://purl.bioontology.org/ontology/MESH/C537482 http://purl.bioontology.org/ontology/MESH/C537484 http://purl.bioontology.org/ontology/MESH/C537446 http://purl.bioontology.org/ontology/MESH/C537217 http://purl.bioontology.org/ontology/MESH/C567433 http://purl.bioontology.org/ontology/MESH/C566983 http://purl.bioontology.org/ontology/MESH/C537797 http://purl.bioontology.org/ontology/MESH/C567930 http://purl.bioontology.org/ontology/MESH/C567931 http://purl.bioontology.org/ontology/MESH/C566993 http://purl.bioontology.org/ontology/MESH/C536873 http://purl.bioontology.org/ontology/MESH/C536871 http://purl.bioontology.org/ontology/MESH/C536872 http://purl.bioontology.org/ontology/MESH/C536874 http://purl.bioontology.org/ontology/MESH/C536870 http://purl.bioontology.org/ontology/MESH/C566969 http://purl.bioontology.org/ontology/MESH/C537058 http://purl.bioontology.org/ontology/MESH/C567262 http://purl.bioontology.org/ontology/MESH/C566682 http://purl.bioontology.org/ontology/MESH/C566681 http://purl.bioontology.org/ontology/MESH/C536029 |
|
| MDA |
19880607 |
|
| MMR |
20190521 |
|
| MN |
C16.320.400.375.820 C10.500.300.820 C10.668.829.800.300.820 C16.131.666.300.820 C10.574.500.495.820 |
|
| notation |
D015419 |
|
| prefLabel |
Spastic Paraplegia, Hereditary |
|
| TERMUI |
T372620 T045536 T045535 T842486 T371600 T371546 T371541 T371569 T782701 T371596 T811901 T371557 T782704 T371597 T045534 T371554 T371599 T825141 T782703 T371553 T782702 T842487 T371568 T825140 T372621 T842488 T371539 T371552 T371598 T371570 T371556 T371555 T045537 T371545 T371601 T371571 T371540 |
|
| TH |
OMIM (2013) NLM (2000) NLM (2012) UNK (19XX) GHR (2014) NLM (1989) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |