ABCD syndrome

Autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB)
MedicalCondition class_of_disease Q3508565
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ABCD syndrome

Summary

ABCD syndrome is a class of disease[1]. It draws 65 Wikipedia views per month (class_of_disease category, ranking #576 of 1,968).[2]

Key Facts

  • ABCD syndrome's instance of is recorded as class of disease[3].
  • ABCD syndrome's subclass of is recorded as autosomal recessive disease[4].
  • ABCD syndrome's subclass of is recorded as Waardenburg-Shah syndrome[5].
  • ABCD syndrome's subclass of is recorded as syndrome[6].
  • ABCD syndrome's MeSH descriptor ID is recorded as C535334[7].
  • ABCD syndrome's OMIM ID is recorded as 600501[8].
  • ABCD syndrome's DiseasesDB is recorded as 33683[9].
  • ABCD syndrome's Freebase ID is recorded as /m/08nzs6[10].
  • ABCD syndrome's KEGG ID is recorded as H00823[11].
  • ABCD syndrome's Disease Ontology ID is recorded as DOID:0050600[12].
  • ABCD syndrome's Orphanet ID is recorded as 918[13].
  • ABCD syndrome's health specialty is recorded as genetics[14].
  • ABCD syndrome's genetic association is recorded as EDNRB[15].
  • ABCD syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050600[16].
  • ABCD syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050600[17].
  • ABCD syndrome's UMLS CUI is recorded as C1838099[18].
  • ABCD syndrome's Quora topic ID is recorded as ABCD-Syndrome[19].
  • ABCD syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
  • ABCD syndrome's Mondo ID is recorded as MONDO_0010895[21].
  • ABCD syndrome's Microsoft Academic ID is recorded as 2775853878[22].
  • ABCD syndrome's UniProt disease ID is recorded as DI-00013[23].

Why It Matters

ABCD syndrome draws 65 Wikipedia views per month (class_of_disease category, ranking #576 of 1,968).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[24] It is known by 6 alternative names across languages and contexts.[25]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . Disease Ontology. Retrieved . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . wikidata.org.
  6. [8] . Disease Ontology. Retrieved . wikidata.org.
  7. [9] . wikidata.org.
  8. [10] . Freebase Data Dumps. wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . Phenocarta release 2016-02-04. Retrieved . omim.org. Provenance: wikidata.org.
  14. [16] . Disease Ontology. Retrieved . wikidata.org.
  15. [17] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  16. [18] . UMLS 2023. Retrieved . wikidata.org.
  17. [19] . Quora. wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . wikidata.org.
  21. [23] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.org.
  2. [24] . Wikidata sitelinks. wikidata.org.
  3. [25] . 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). ABCD syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/abcd-syndrome
MLA “ABCD syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/abcd-syndrome.
BibTeX @misc{4ortxyz_abcd-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{ABCD syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/abcd-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): ABCD syndrome — https://4ort.xyz/entity/abcd-syndrome (retrieved 2026-05-03)

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