Home › Entities › class_of_disease › ABCD syndrome

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
Press Enter · cited answer in seconds

ABCD syndrome

Summary

ABCD syndrome is a class of disease[1]. It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • ABCD syndrome's instance of is recorded as class of disease[3].
  • ABCD syndrome is a type of autosomal recessive disease[4].
  • ABCD syndrome is a type of Waardenburg-Shah syndrome[5].
  • ABCD syndrome is a type of syndrome[6].
  • ABCD syndrome's health specialty is recorded as genetics[7].
  • ABCD syndrome's genetic association is recorded as EDNRB[8].
  • ABCD syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050600[9].
  • ABCD syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050600[10].
  • ABCD syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].

Why It Matters

ABCD syndrome has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2] It is known by 6 alternative names across languages and contexts.[12]

Related Entities

genetics

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] ↑ . Phenocarta release 2016-02-04. Retrieved . omim.org. Provenance: wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  9. [11] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata sitelinks. wikidata.org.
  2. [12] ↑ . 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)

Canonical URL: https://4ort.xyz/entity/abcd-syndrome · Last refreshed:

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. 10d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    On focus list of wikimedia project → WikiProject Medicine
    Health specialty → genetics
    Subclass of → autosomal recessive disease, Waardenburg-Shah syndrome, syndrome
    Instance of → class of disease
    + 4 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.