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GRACILE syndrome

inherited metabolic disease
MedicalCondition developmental_defect_during_embryogenesis Q5514398
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GRACILE syndrome

Summary

GRACILE syndrome is a developmental defect during embryogenesis[1]. It draws 62 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #118 of 308).[2]

Key Facts

  • GRACILE syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • GRACILE syndrome's instance of is recorded as rare disease[4].
  • GRACILE syndrome's instance of is recorded as class of disease[5].
  • GRACILE syndrome is a type of iron overload[6].
  • GRACILE syndrome is a type of mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes[7].
  • GRACILE syndrome is a type of autosomal recessive disease[8].
  • GRACILE syndrome is a type of mitochondrial disease[9].
  • GRACILE syndrome's symptoms and signs is recorded as lactic acidosis[10].
  • GRACILE syndrome's symptoms and signs is recorded as aminoaciduria[11].
  • GRACILE syndrome's symptoms and signs is recorded as cholestasis[12].
  • GRACILE syndrome's symptoms and signs is recorded as liver cirrhosis[13].
  • GRACILE syndrome's symptoms and signs is recorded as decreased transferrin saturation[14].
  • GRACILE syndrome's symptoms and signs is recorded as deafness[15].
  • GRACILE syndrome's symptoms and signs is recorded as hepatic steatosis[16].
  • GRACILE syndrome's symptoms and signs is recorded as intrauterine growth restriction[17].
  • GRACILE syndrome's symptoms and signs is recorded as increased serum ferritin[18].
  • GRACILE syndrome's symptoms and signs is recorded as renal Fanconi syndrome[19].
  • GRACILE syndrome's has cause is recorded as point mutation[20].
  • GRACILE syndrome's mode of inheritance is recorded as autosomal recessive[21].
  • GRACILE syndrome's ICD-9-CM is recorded as 759.89[22].
  • GRACILE syndrome's genetic association is recorded as BCS1L[23].
  • GRACILE syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_53693[24].
  • GRACILE syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111455[25].
  • GRACILE syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111455[26].

Why It Matters

GRACILE syndrome draws 62 Wikipedia views per month (developmental_defect_during_embryogenesis category, ranking #118 of 308).[2] It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[27] It is known by 13 alternative names across languages and contexts.[28]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . wikidata.org.
  17. [19] ↑ . wikidata.org.
  18. [20] ↑ . wikidata.org.
  19. [21] ↑ . wikidata.org.
  20. [22] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [23] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  22. [24] ↑ . wikidata.org.
  23. [25] ↑ . Disease Ontology. Retrieved . wikidata.org.
  24. [26] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [27] ↑ . Wikidata sitelinks. wikidata.org.
  3. [28] ↑ . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). GRACILE syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/gracile-syndrome
MLA “GRACILE syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/gracile-syndrome.
BibTeX @misc{4ortxyz_gracile-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{GRACILE syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/gracile-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): GRACILE syndrome — https://4ort.xyz/entity/gracile-syndrome (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 14d ago · Twofivesixbot bot · 2026-05-20 view diff on Wikidata ↗
    Has cause → point mutation
    Instance of → —
    Subclass of → iron overload, mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes, autosomal recessive disease +1
    Instance of → developmental defect during embryogenesis, rare disease, class of disease
    + 5 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|8 */ [[Property:P2347]]: 38763, mv to monolingual text names on YSO statements"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.