loading...| Preferred Name | hereditary ataxia | |
| Synonyms |
SCA hereditary ataxia rare hereditary ataxia |
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| Definitions |
An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0009671 |
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| database_cross_reference |
ICD10CM:G11 Orphanet:183518 MONDO:0100309 MedDRA:10062002 MESH:C531684 icd11.foundation:442347652 MONDO:0000557 MEDGEN:2478 DOID:0050951 SCTID:763597000 UMLS:C0004138 Wikipedia:Ataxia#Hereditary_ataxias GARD:20286 ICD10:G11 |
|
| definition |
An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS. |
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| has_exact_synonym |
hereditary ataxia rare hereditary ataxia |
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| has_related_synonym |
SCA |
|
| id |
EFO:0009671 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
hereditary ataxia |
|
| notation |
EFO:0009671 |
|
| preferred label |
hereditary ataxia |
|
| prefLabel |
hereditary ataxia |
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| see also |
https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/EFO_0009671 http://purl.obolibrary.org/obo/DOID_0050951 http://linkedlifedata.com/resource/umls/id/C0004138 http://identifiers.org/mesh/C531684 http://identifiers.org/medgen/2478 http://purl.bioontology.org/ontology/ICD10CM/G11 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/442347652 |
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| terms_creator | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100545 |
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| excluded_subClassOf |