multiminicore myopathy
type: Thing
description: Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: congenital myopathy
additional property: PropertyValue
  property ID: P373
  value: Multicore myopathy
additional property: PropertyValue
  property ID: P665
  value: H01310
additional property: PropertyValue
  property ID: P1550
  value: 598
additional property: PropertyValue
  property ID: P2293
  value: RYR1
additional property: PropertyValue
  property ID: P2293
  value: SELENON
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_598
additional property: PropertyValue
  property ID: P2892
  value: C0270962
additional property: PropertyValue
  property ID: P4229
  value: G71.2
additional property: PropertyValue
  property ID: P4317
  value: 9130
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0018948
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: long_tail
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 4
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 4
  monthly pageviews: 0
  yearly pageviews: 16
  pageview trend:
    m: 2026-06
    v: 12
  pageview trend:
    m: 2026-05
    v: 2
  pageview trend:
    m: 2026-04
    v: 2
  tier: long_tail
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q112412
    source count: 0
    confidence: 0.0
    value label: congenital myopathy
  P373:
    value: Multicore myopathy
    source count: 0
    confidence: 0.0
  P665:
    value: H01310
    source count: 0
    confidence: 0.0
  P1550:
    value: 598
    source count: 1
    confidence: 0.2
  P2293:
    value: Q18031340
    source count: 2
    confidence: 0.4
    value label: RYR1
  P2293:
    value: Q18042972
    source count: 1
    confidence: 0.2
    value label: SELENON
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_598
    source count: 0
    confidence: 0.0
  P2892:
    value: C0270962
    source count: 1
    confidence: 0.2
  P4229:
    value: G71.2
    source count: 1
    confidence: 0.2
  P4317:
    value: 9130
    source count: 0
    confidence: 0.0
  P5270:
    value: MONDO_0018948
    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-08-07
citations:
  source: A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
  stated in qid: Q44420417
citations:
  source: Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
  stated in qid: Q33954327
meta:
  wikidata id: Q1952336
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/multiminicore-myopathy
  markdown url: https://4ort.xyz/entity/multiminicore-myopathy.md
  facts url summary: https://4ort.xyz/entity/multiminicore-myopathy/facts.json
  facts url standard: https://4ort.xyz/entity/multiminicore-myopathy/facts.json
  facts url full: https://4ort.xyz/entity/multiminicore-myopathy/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-24T06:35:25.151731Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:51:02.701428+00:00Z