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Wikidata observation

Barth syndrome

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

Also known as (16)

MGA type II · MGA2 · 3-methylglutaconicaciduria type 2 · TAZ defect · Cardioskeletal myopathy-neutropenia syndrome · 3-methylglutaconicaciduria type II · Mga, Type 2 · 3-methylglutaconic aciduria type 2 · BARTH SYNDROME; BTHS · BARTH SYNDROME · BTHS · 3-Methylglutaconic Aciduria, Type 2 · MGA Type 2 · X-linked cardioskeletal myopathy and neutropenia · Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria · 3-methylglutaconic aciduria type II

Observations from Wikidata; separate from governed Counterpedia records. Sources, origins and what has been checked

At a glance

Selected recorded observations. Counterpedia has not independently verified them; inspect the statements for sources and alternative or historical context.

subclass of
mitochondrial myopathy
About this property

A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

Wikidata property P279

Statement & references
instance of
rare disease
About this property

This names the relationship or attribute recorded by Wikidata. Any context shown beside it qualifies this particular statement.

Wikidata property P31

Statement & references
How these facts are selected

Up to eight distinct properties with readable names and values. One from each available category comes first, then remaining slots follow property category, property code and source order. This keeps names and family details from crowding out work, dates and geography. Media, external identifiers, unnamed targets and statements with incomplete qualifying context stay in the detailed list. The same rule applies to every subject. Context recorded by Wikidata appears beside each selected fact.

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Outgoing connections are statements about this subject. A connection is not evidence that another subject supports a claim.

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External identifiers (30)

Identifier lookup links, separate from statement references.

  • P493: 759.89
  • P557: 29297
  • P7464: barth-syndrome
  • P2892: C0574083
  • P5806: 297231002
  • P9272: 53535
  • P11143: Barth syndrome
  • P672: C16.131.240.400.172
  • P3827: barth-syndrome
  • P1550: 111
  • P665: H00654
  • P646: /m/01hd5s
  • P486: D056889
  • P4317: 5890
  • P4229: E71.1
  • P1748: C84585
  • P668: NBK247162
  • P672: C14.240.400.172
  • P672: C18.452.584.563.224
  • P699: DOID:0050476
  • P6366: 2777887420
  • P672: C16.320.565.398.224
  • P4229: E78.71
  • P672: C16.131.077.121
  • P492: 302060
  • P672: C18.452.648.398.224
  • P11430: DI-00005
  • P672: C14.280.400.172
  • P672: C16.320.322.068
  • P5270: MONDO_0010543

Sources and origins

Structured observations

Statements in this view were observed in Wikidata. Their source identifiers and carried history remain available for inspection.

Cited references
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Retained evidence
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Checks
No completed Check is associated with these statements in this view. Check execution is currently unavailable.

These observations are not governed Counterpedia claims. The origin of an observation can differ from the author or publisher of its cited source.

Documentary coverage

Documentary identifiers

No source identifiers recorded

Identifiers Counterpedia can route

No lookup route known

Reference-route hints

Reference route hint recorded

“Routable” means Counterpedia knows an approved provider capability that can investigate the identifier. It does not mean the source has been captured or checked.

Validation state

  1. 1. In Wikidata

    No source identifiers recorded.

  2. 2. Lookup route

    No source identifiers recorded.

  3. 3. Lookup result

    No lookup recorded for this page.

  4. 4. Saved copy

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  5. 5. Fixed version

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  6. 6. Check result

    Not checked.

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Research frontier

Ready to investigate

None of the recorded identifier routes is marked routable.

Still unresolved

30 identifier routes and 97 reference hints remain research inputs rather than governed evidence.

Authority boundary

What this page establishes

It establishes what the retained Wikimedia observation contains and what investigation paths Counterpedia can describe from that material.

What it does not establish

  • A Wikidata statement is not automatically Counterpedia evidence.
  • A routable identifier is not a captured source.
  • A captured representation is not automatically a fixed source version.
  • A fixed source version is not automatically a Check result.
  • Graph proximity and reference counts are not support or corroboration.
  • A provider observation and candidate locator do not establish source bytes or support.
Presentation contract
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Counterpedia composition
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Statements & recorded references

Open a statement to see the references attached to it. Context can limit when, where or how a statement applies. Recorded source URLs, identifier resolvers and source works describe where Wikidata points; none establishes source support or a completed Check.

Check execution is unavailable in this preview. Exact recorded locators remain available to inspect and open.

  1. Relationship name unavailable: Broad forehead1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  2. Relationship name unavailable: http://purl.obolibrary.org/obo/DOID_00504761 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P2888

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  3. subclass of: lipid metabolism disorder1 recorded referenceRecorded context: Relationship name unavailable: named value unavailable in this release; has part(s): syndromic dyslipidemiaThis statement has context that cannot be fully shown here. An unresolved name or missing qualification can change how it should be understood.

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Qualifiers

    Relationship name unavailable: named value unavailable in this release

    has part(s): syndromic dyslipidemia

    Statement identity, reference hashes and carried detail
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  4. Relationship name unavailable: lipoatrophy1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

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    Statement identity, reference hashes and carried detail
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  5. Relationship name unavailable: palmoplantar keratosis1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

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    Wikidata property P780

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    Statement identity, reference hashes and carried detail
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  6. Relationship name unavailable: Abnormal mitochondrial morphology1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  7. Relationship name unavailable: muscular disease1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  8. Relationship name unavailable: heart failure1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  9. Relationship name unavailable: Macrotia1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  10. Commons category: Barth syndromeReference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    This names the relationship or attribute recorded by Wikidata. Any context shown beside it qualifies this particular statement.

    Wikidata property P373

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
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      "literalValue": "Barth syndrome"
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  11. Relationship name unavailable: clubfoot1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  12. subclass of: mitochondrial myopathy1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  13. Relationship name unavailable: X-linked recessive1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  14. Relationship name unavailable: endocrinologyReference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

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    Wikidata property P1995

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  15. Relationship name unavailable: 3-methylglutaconic aciduria1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  16. instance of: rare diseaseReference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    This names the relationship or attribute recorded by Wikidata. Any context shown beside it qualifies this particular statement.

    Wikidata property P31

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  17. Relationship name unavailable: TAFAZZIN4 recorded references

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P2293

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  18. Relationship name unavailable: http://www.orpha.net/ORDO/Orphanet_111Reference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

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    Wikidata property P2888

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  19. Relationship name unavailable: Round face1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  20. Relationship name unavailable: WikiProject MedicineReference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P5008

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  21. Relationship name unavailable: sensorineural hearing loss1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  22. subclass of: disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  23. Relationship name unavailable: agranulocytosis1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
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  24. Relationship name unavailable: fatigue1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
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      "targetLabel": "fatigue",
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        "referenceHashSummaryTruncated": false
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  25. Relationship name unavailable: organic acidemia1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q1547640",
      "targetLabel": "organic acidemia",
      "referencesSummary": {
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          "P248",
          "P3865"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
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    }
  26. Relationship name unavailable: Growth delay1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938514",
      "targetLabel": "Growth delay",
      "referencesSummary": {
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          "P248",
          "P3865"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
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    }
  27. Relationship name unavailable: failure to thrive1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q1497481",
      "targetLabel": "failure to thrive",
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          "P3865"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
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    }
  28. subclass of: X-linked recessive disease1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P279",
      "targetRef": "Q55010090",
      "targetLabel": "X-linked recessive disease",
      "referencesSummary": {
        "referenceCount": 1,
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          "P248",
          "P699",
          "P813"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  29. Relationship name unavailable: Full cheeks1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938491",
      "targetLabel": "Full cheeks",
      "referencesSummary": {
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          "P248",
          "P3865"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  30. Relationship name unavailable: Recurrent infections in infancy and early childhood1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938494",
      "targetLabel": "Recurrent infections in infancy and early childhood",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
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          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  31. Relationship name unavailable: dilated cardiomyopathy1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q283656",
      "targetLabel": "dilated cardiomyopathy",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  32. Relationship name unavailable: Skeletal myopathy1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938505",
      "targetLabel": "Skeletal myopathy",
      "referencesSummary": {
        "referenceCount": 1,
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          "P248",
          "P3865"
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          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  33. subclass of: constitutional neutropenia with extra-hematopoietic manifestations1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P279",
      "targetRef": "Q55787695",
      "targetLabel": "constitutional neutropenia with extra-hematopoietic manifestations",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P5270",
          "P813"
        ],
        "referenceHashes": [
          "865c4661b772a5d94e56ac9acf61f555fd6f8379"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  34. Relationship name unavailable: Abnormality of neutrophils1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938519",
      "targetLabel": "Abnormality of neutrophils",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
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        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
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    }
  35. subclass of: developmental defect during embryogenesis1 recorded referenceRecorded context: Relationship name unavailable: named value unavailable in this release; has part(s): mitochondrial disease with dilated cardiomyopathy; has part(s): mitochondrial myopathyThis statement has context that cannot be fully shown here. An unresolved name or missing qualification can change how it should be understood.

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Qualifiers

    Relationship name unavailable: named value unavailable in this release

    has part(s): mitochondrial disease with dilated cardiomyopathy

    has part(s): mitochondrial myopathy

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P279",
      "targetRef": "Q55788864",
      "targetLabel": "developmental defect during embryogenesis",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P5270",
          "P813"
        ],
        "referenceHashes": [
          "865c4661b772a5d94e56ac9acf61f555fd6f8379"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      },
      "qualifiers": {
        "observedSnakCount": 3,
        "retainedSnaks": [
          {
            "propertyPid": "P2241",
            "datatype": "wikibase-item",
            "datavalue": {
              "type": "wikibase-entityid",
              "value": {
                "entity-type": "item",
                "id": "Q140438372",
                "numeric-id": 140438372
              }
            },
            "snaktype": "value"
          },
          {
            "propertyPid": "P527",
            "valueLabel": "mitochondrial disease with dilated cardiomyopathy",
            "datatype": "wikibase-item",
            "datavalue": {
              "type": "wikibase-entityid",
              "value": {
                "entity-type": "item",
                "id": "Q55786150",
                "numeric-id": 55786150
              }
            },
            "snaktype": "value"
          },
          {
            "propertyPid": "P527",
            "valueLabel": "mitochondrial myopathy",
            "datatype": "wikibase-item",
            "datavalue": {
              "type": "wikibase-entityid",
              "value": {
                "entity-type": "item",
                "id": "Q6881881",
                "numeric-id": 6881881
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            },
            "snaktype": "value"
          }
        ],
        "truncated": false
      }
    }
  36. Relationship name unavailable: gait abnormality1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q827017",
      "targetLabel": "gait abnormality",
      "referencesSummary": {
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          "P248",
          "P3865"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  37. image: Cardiolipin.svg1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    This names the relationship or attribute recorded by Wikidata. Any context shown beside it qualifies this particular statement.

    Wikidata property P18

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P18",
      "literalValue": "Cardiolipin.svg",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P143",
          "P4656"
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        "referenceHashes": [
          "bd1363867292f1bebb0e62aa3fa489cb545da08f"
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        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  38. Relationship name unavailable: hypertrophic cardiomyopathy1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q1364270",
      "targetLabel": "hypertrophic cardiomyopathy",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
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        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  39. Relationship name unavailable: heart arrhythmia1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q189331",
      "targetLabel": "heart arrhythmia",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
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        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  40. Relationship name unavailable: EMG abnormality1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938534",
      "targetLabel": "EMG abnormality",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
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        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  41. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q11341872",
      "targetLabel": "Q11341872",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
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        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  42. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q3922672",
      "targetLabel": "Q3922672",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  43. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q5379401",
      "targetLabel": "Q5379401",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  44. subclass of: 3-methylglutaconic aciduria1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P279",
      "targetRef": "Q3598794",
      "targetLabel": "3-methylglutaconic aciduria",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P5270",
          "P813"
        ],
        "referenceHashes": [
          "865c4661b772a5d94e56ac9acf61f555fd6f8379"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  45. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938540",
      "targetLabel": "Q110938540",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  46. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q5420062",
      "targetLabel": "Q5420062",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  47. subclass of: syndromic dyslipidemia1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P279",
      "targetRef": "Q55785804",
      "targetLabel": "syndromic dyslipidemia",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P5270",
          "P813"
        ],
        "referenceHashes": [
          "865c4661b772a5d94e56ac9acf61f555fd6f8379"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  48. instance of: Named value unavailable; inspect recorded detailReference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    This names the relationship or attribute recorded by Wikidata. Any context shown beside it qualifies this particular statement.

    Wikidata property P31

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P31",
      "targetRef": "Q112193867",
      "targetLabel": "Q112193867"
    }
  49. image: Barth syndrome consistent facial features of boys (Orphanet Journal of Rare Diseases Clarke et al).jpgReference count not carried

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    This names the relationship or attribute recorded by Wikidata. Any context shown beside it qualifies this particular statement.

    Wikidata property P18

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P18",
      "literalValue": "Barth syndrome consistent facial features of boys (Orphanet Journal of Rare Diseases Clarke et al).jpg"
    }
  50. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P780",
      "targetRef": "Q5376225",
      "targetLabel": "Q5376225",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  51. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110917350",
      "targetLabel": "Q110917350",
      "referencesSummary": {
        "referenceCount": 1,
        "referencePropertyPids": [
          "P248",
          "P3865"
        ],
        "referenceHashes": [
          "c0711df826c15ae28bcf5c59a948e25987d05b8d"
        ],
        "propertyPidSummaryTruncated": false,
        "referenceHashSummaryTruncated": false
      }
    }
  52. subclass of: mitochondrial disease with dilated cardiomyopathy1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    A broader class whose members include every member of this class. This is different from an individual being an instance of a class.

    Wikidata property P279

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
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      "targetRef": "Q55786150",
      "targetLabel": "mitochondrial disease with dilated cardiomyopathy",
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  53. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P780

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
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      "targetRef": "Q1435822",
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  54. Relationship name unavailable: Named value unavailable; inspect recorded detail1 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P6532

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P6532",
      "targetRef": "Q110938530",
      "targetLabel": "Q110938530",
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  55. Relationship name unavailable: http://identifiers.org/doid/DOID:00504761 recorded reference

    Observation origin: Wikidata. References below are citations attached to this statement, not independently captured evidence.

    About this property

    The readable name for this property is unavailable here. Its code and exact recorded value are preserved; the code alone does not explain the relationship.

    Wikidata property P2888

    No exact source locator is carried for this statement in this view.

    Statement identity, reference hashes and carried detail
    {
      "predicate": "P2888",
      "literalValue": "http://identifiers.org/doid/DOID:0050476",
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    }

Continue exploring

Inspect all recorded statements in pages →

Data and provenance

Wikidata entity IDs are external identifiers, not Counterpedia canonical subject identities. Rendering this page does not mint a governed identity. Release identities and artifact hashes identify the data used for this view; none establishes verification.

Provenance rows
103
Acquisition repository
thelaplage/counterpedia-acquisition
Acquisition revision
e6add6a4d8e1668a9ac486407e52974724563ce1, 891f24c5cca64aa69b1dc1b2150e991b940171b0
Provider identity · Observation origin: Wikidata · External entity ID
Q928424 on Wikidata ↗
Served release
sha256:f33228901a35b0683356002a46df9ceb11f399d05f17abb5c7c78256cbf38ba7

No exact claim–source–Check association has been supplied to this page. Recorded references do not establish verification.

Carried provenance rows
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Classification identities
[
  {
    "classQid": "Q929833",
    "label": "rare disease",
    "href": "/browse/types/Q929833"
  },
  {
    "classQid": "Q112193867",
    "label": "type of disease",
    "href": "/browse/types/Q112193867"
  }
]

Wikidata content CC0; Wikipedia titles CC BY-SA — attribution.