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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:G71.8 (Orphanet:602)
  • OMIM:605820 (Orphanet:602)
  • Orphanet:602 (OMIM:605820)
  • GARD:0009493 (Orphanet-shared)
  • SCTID:702382000 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
DMRV [ Orphanet:602 ]

abbreviation
IBM2 [ Orphanet:602 ]

abbreviation
QSM [ GARD:0009493 ]

abbreviation
HIBM2 [ Orphanet:602 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1853926

http://linkedlifedata.com/resource/umls/id/C1833373

definition

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.

exactMatch

http://identifiers.org/mesh/C536816

http://identifiers.org/omim/605820

http://www.orpha.net/ORDO/Orphanet_602

http://identifiers.org/snomedct/702382000

has exact synonym

hereditary inclusion body myopathy type 2

distal myopathy, Nonaka type

distal myopathy with rimmed vacuoles

inclusion body myopathy autosomal recessive

Nonaka myopathy

IBM2

quadriceps-sparing myopathy

DMRV

HIBM2

inclusion body myopathy type 2

has related synonym

Nonaka distal myopathy

quadriceps sparing myopathy

inclusion body myopathy, hereditary, autosomal recessive

myopathy, distal, with or without rimmed vacuoles

inclusion body myopathy, autosomal recessive

inclusion body myopathy, quadriceps-sparing

QSM

myopathy, distal, with rimmed vacuoles

inclusion body myopathy 2, autosomal recessive, formerly

rimmed vacuole myopathy

NM

inclusion body myopathy 2, autosomal recessive

id

MONDO:0011603