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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:chronic inflammatory demyelinating polyneuropathy
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Accession:EFO:0009538 term browser browse the term
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.
Comment:GARD:0006102; SCTID:716723000
Synonyms:exact_synonym: AIDP;   Guillain-Barre syndrome, familial;   neuropathy, inflammatory demyelinating;   polyneuropathy, inflammatory demyelinating, acute
 related_synonym: CIDP;   GBS;   chronic inflammatory demyelinating polyradiculoneuropathy
 xref: DOID:5213;   GARD:18211;   ICD10:G61;   ICD10:G61.8;   MONDO:0007691;   MedDRA:10057645;   MedDRA:10077384;   NANDO:1200030;   NANDO:2100251;   NANDO:2200905;   OMIM:139393;   ORDO:2932;   SCTID:40956001;   SCTID:716723000
 external_ontology: has_modifier EFO:HP:0011010

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        disease 0
          chronic disease 0
            chronic inflammatory demyelinating polyneuropathy 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          immune system disease 0
            hypersensitivity reaction disease 0
              type II hypersensitivity reaction disease 0
                autoimmune disorder of the nervous system 0
                  autoimmune disorder of peripheral nervous system 0
                    Guillain-Barre syndrome 0
                      chronic inflammatory demyelinating polyneuropathy 0
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