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autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

medical condition
MedicalCondition rare_disease Q55783837
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autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Summary

autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is a rare disease[1]. It draws 5 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

Key Facts

  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's instance of is recorded as rare disease[3].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's instance of is recorded as class of disease[4].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's subclass of is recorded as disease of glomerular basement membrane[5].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's subclass of is recorded as COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy[6].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's MeSH descriptor ID is recorded as C567088[7].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's OMIM ID is recorded as 611773[8].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's KEGG ID is recorded as H00579[9].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's Orphanet ID is recorded as 73229[10].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's ICD-9-CM is recorded as 758.89[11].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's genetic association is recorded as COL4A1[12].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_73229[13].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's UMLS CUI is recorded as C2673195[14].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's ICD-10-CM is recorded as I99[15].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's Mondo ID is recorded as MONDO_0012726[16].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's ICD-11 ID is recorded as 733821001[17].
  • autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome's UniProt disease ID is recorded as DI-01710[18].

Why It Matters

autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome draws 5 Wikipedia views per month (rare_disease category, ranking #236 of 627).[2]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] ↑ . wikidata.org.
  8. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] ↑ . COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [15] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [16] ↑ . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.

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

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