loading...| Preferred Name | chronic inflammatory demyelinating polyneuropathy | |
| Synonyms |
GBS chronic inflammatory demyelinating polyradiculoneuropathy chronic inflammatory demyelinating polyneuropathy polyneuropathy, inflammatory demyelinating, acute neuropathy, inflammatory demyelinating Guillain-Barre syndrome, familial AIDP CIDP |
|
| Definitions |
A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0009538 |
|
| database_cross_reference |
MONDO:0007691 Orphanet:2932 NANDO:2100251 MedDRA:10057645 ICD10:G61.8 OMIM:139393 MedDRA:10077384 SCTID:40956001 NANDO:1200030 SCTID:716723000 NANDO:2200905 UMLS:C4083008 MEDGEN:901636 GARD:18211 ICD10:G61 |
|
| definition |
A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. |
|
| definition_citation |
GARD:0006102 SCTID:716723000 |
|
| gwas_trait |
true |
|
| has modifier | ||
| has_exact_synonym |
chronic inflammatory demyelinating polyradiculoneuropathy chronic inflammatory demyelinating polyneuropathy polyneuropathy, inflammatory demyelinating, acute neuropathy, inflammatory demyelinating Guillain-Barre syndrome, familial AIDP CIDP |
|
| has_related_synonym |
GBS |
|
| IAO_0000233 | ||
| id |
EFO:0009538 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
chronic inflammatory demyelinating polyneuropathy |
|
| notation |
EFO:0009538 |
|
| preferred label |
chronic inflammatory demyelinating polyneuropathy |
|
| prefLabel |
chronic inflammatory demyelinating polyneuropathy |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/901636 http://linkedlifedata.com/resource/umls/id/C4083008 http://purl.obolibrary.org/obo/EFO_0009538 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0007292 http://www.ebi.ac.uk/efo/EFO_0020092 http://www.ebi.ac.uk/efo/EFO_0009714 http://purl.obolibrary.org/obo/MONDO_0100545 |
|
| excluded_subClassOf |