Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. [ Orphanet:602 ]
Term information
- Orphanet:602 (OMIM:605820)
- GARD:0009493 (Orphanet-shared)
- ICD10:G71.8 (Orphanet:602)
- OMIM:605820 (Orphanet:602)
- SCTID:702382000 (MONDO:equivalentTo)
ordo_disease
http://linkedlifedata.com/resource/umls/id/C1853926
http://linkedlifedata.com/resource/umls/id/C1833373
Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.
http://identifiers.org/omim/605820
http://identifiers.org/mesh/C536816
http://www.orpha.net/ORDO/Orphanet_602
http://identifiers.org/snomedct/702382000
hereditary inclusion body myopathy type 2
distal myopathy with rimmed vacuoles
distal myopathy, Nonaka type
inclusion body myopathy autosomal recessive
Nonaka myopathy
IBM2
quadriceps-sparing myopathy
DMRV
HIBM2
inclusion body myopathy type 2
Nonaka distal myopathy
quadriceps sparing myopathy
inclusion body myopathy, hereditary, autosomal recessive
myopathy, distal, with or without rimmed vacuoles
inclusion body myopathy, quadriceps-sparing
inclusion body myopathy, autosomal recessive
QSM
myopathy, distal, with rimmed vacuoles
inclusion body myopathy 2, autosomal recessive, formerly
rimmed vacuole myopathy
NM
inclusion body myopathy 2, autosomal recessive
Term relations
- inclusion myopathy
- qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
- syndromic constitutional thrombocytopenia
- congenital disorder of glycosylation with neurological involvement
- disorder of multiple glycosylation
- autosomal recessive distal myopathy
- inclusion body myositis
- disease has basis in dysfunction of some GNE