loading...| Preferred Name | obsolete_hereditary spastic paraplegia | |
| Synonyms |
spastic paraplegia Hereditary Spastic Paraplegia, Autosomal Recessive HSP - Hereditary spastic paraplegia HMSN V (Hereditary Motor and Sensory Neuropathy Type V) Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia, Hereditary, X-Linked Recessive Type V Hereditary Motor and Sensory Neuropathy Hereditary Motor-Sensory Neuropathy with Pyramidal Signs Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy Type V, HMSN Spastic Paraplegia, X-Linked Recessive, Hereditary X-linked Recessive Hereditary Spastic Paraplegia Paraplegias, Hereditary Spastic Autosomal Recessive Hereditary Spastic Paraplegia Hereditary X Linked Recessive Spastic Paraplegia Paraplegia, Hereditary Spastic Hereditary, Spastic Paraplegia, Autosomal Dominant Spastic Paraplegias, Hereditary Spastic Paraplegia, Hereditary, Autosomal Dominant Hereditary X-Linked Recessive Spastic Paraplegia Paraplegia, Spastic, Hereditary Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Spastic congenital paraplegia Hereditary, Spastic Paraplegia, X-Linked Recessive Hereditary spastic paraplegia (disorder) Strumpell disease HMSN Type V Spastic Paraplegia, Hereditary, Autosomal Recessive HERED SPASTIC PARAPLEGIA Spastic Paraplegia, Hereditary Strumpell-Lorrain disease Hereditary motor and sensory neuropathy, type V Familial spastic paraplegia syndrome Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V Hereditary Autosomal Recessive Spastic Paraplegia Autosomal Recessive Spastic Paraplegia, Hereditary Hereditary Motor Sensory Neuropathy with Pyramidal Signs Autosomal Dominant Spastic Paraplegia Hereditary Spastic Paraplegia, Autosomal Recessive, Hereditary Autosomal Dominant Hereditary Spastic Paraplegia Hereditary sensory-motor neuropathy, type V Hereditary Autosomal Dominant Spastic Paraplegia X linked Recessive Hereditary Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant, Hereditary Hereditary Spastic Paraplegias Hereditary motor and sensory neuropathy type V Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia Hereditary sensory-motor neuropathy, type V (disorder) X-Linked, Spastic Paraplegia, Hereditary HMSN V HSMN V |
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| 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) |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0000529 |
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| Obsolete |
true |
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| database_cross_reference |
MeSH:D015419 OMIM:600361 SNOMEDCT:39912006 SNOMEDCT:76043009 DOID:2476 ICD9:334.1 |
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| 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) |
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| deprecated |
true |
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| has_exact_synonym |
spastic paraplegia Hereditary Spastic Paraplegia, Autosomal Recessive HSP - Hereditary spastic paraplegia HMSN V (Hereditary Motor and Sensory Neuropathy Type V) Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia, Hereditary, X-Linked Recessive Type V Hereditary Motor and Sensory Neuropathy Hereditary Motor-Sensory Neuropathy with Pyramidal Signs Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy Type V, HMSN Spastic Paraplegia, X-Linked Recessive, Hereditary X-linked Recessive Hereditary Spastic Paraplegia Paraplegias, Hereditary Spastic Autosomal Recessive Hereditary Spastic Paraplegia Hereditary X Linked Recessive Spastic Paraplegia Paraplegia, Hereditary Spastic Hereditary, Spastic Paraplegia, Autosomal Dominant Spastic Paraplegias, Hereditary Spastic Paraplegia, Hereditary, Autosomal Dominant Hereditary X-Linked Recessive Spastic Paraplegia Paraplegia, Spastic, Hereditary Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Spastic congenital paraplegia Hereditary, Spastic Paraplegia, X-Linked Recessive Hereditary spastic paraplegia (disorder) Strumpell disease HMSN Type V Spastic Paraplegia, Hereditary, Autosomal Recessive HERED SPASTIC PARAPLEGIA Spastic Paraplegia, Hereditary Strumpell-Lorrain disease Hereditary motor and sensory neuropathy, type V Familial spastic paraplegia syndrome Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V Hereditary Autosomal Recessive Spastic Paraplegia Autosomal Recessive Spastic Paraplegia, Hereditary Hereditary Motor Sensory Neuropathy with Pyramidal Signs Autosomal Dominant Spastic Paraplegia Hereditary Spastic Paraplegia, Autosomal Recessive, Hereditary Autosomal Dominant Hereditary Spastic Paraplegia Hereditary sensory-motor neuropathy, type V Hereditary Autosomal Dominant Spastic Paraplegia X linked Recessive Hereditary Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant, Hereditary Hereditary Spastic Paraplegias Hereditary motor and sensory neuropathy type V Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia Hereditary sensory-motor neuropathy, type V (disorder) X-Linked, Spastic Paraplegia, Hereditary HMSN V HSMN V |
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| label |
obsolete_hereditary spastic paraplegia |
|
| obsoleted_in_version |
2.46 |
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| organizational_class |
true |
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| preferred label |
obsolete_hereditary spastic paraplegia |
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| prefixIRI |
efo:EFO_0000529 |
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| prefLabel |
obsolete_hereditary spastic paraplegia |
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| reason_for_obsolescence |
Use http://www.orpha.net/ORDO/Orphanet_685 label : hereditary spastic paraplegia |
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| term editor |
Tomasz Adamusiak James Malone |
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| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0000529 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0002315 | MONDO | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0000529 | EFO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_685 | EFO | LOOM |