hypomyelinating leukodystrophy 2

Human disease
MedicalCondition rare_disease Q28065592
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hypomyelinating leukodystrophy 2

Summary

hypomyelinating leukodystrophy 2 is a rare disease[1].

Key Facts

  • hypomyelinating leukodystrophy 2's instance of is recorded as rare disease[2].
  • hypomyelinating leukodystrophy 2's instance of is recorded as class of disease[3].
  • hypomyelinating leukodystrophy 2's subclass of is recorded as hypomyelinating leukodystrophy[4].
  • hypomyelinating leukodystrophy 2's subclass of is recorded as autosomal recessive disease[5].
  • hypomyelinating leukodystrophy 2's OMIM ID is recorded as 608804[6].
  • hypomyelinating leukodystrophy 2's Disease Ontology ID is recorded as DOID:0060787[7].
  • hypomyelinating leukodystrophy 2's Orphanet ID is recorded as 280282[8].
  • hypomyelinating leukodystrophy 2's genetic association is recorded as GJC2[9].
  • hypomyelinating leukodystrophy 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060787[10].
  • hypomyelinating leukodystrophy 2's exact match is recorded as http://identifiers.org/doid/DOID:0060787[11].
  • hypomyelinating leukodystrophy 2's UMLS CUI is recorded as C1837355[12].
  • hypomyelinating leukodystrophy 2's ICD-10-CM is recorded as E75.2[13].
  • hypomyelinating leukodystrophy 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
  • hypomyelinating leukodystrophy 2's Mondo ID is recorded as MONDO_0012125[15].
  • hypomyelinating leukodystrophy 2's UniProt disease ID is recorded as DI-00649[16].

References

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

Direct Wikidata claims

  1. [2] . wikidata.org.
  2. [3] . wikidata.org.
  3. [4] . Disease Ontology. Retrieved . wikidata.org.
  4. [5] . Disease Ontology. Retrieved . wikidata.org.
  5. [6] . Disease Ontology. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  11. [12] . UMLS 2023. Retrieved . wikidata.org.
  12. [13] . Disease Ontology. Retrieved . wikidata.org.
  13. [14] . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.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). hypomyelinating leukodystrophy 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/hypomyelinating-leukodystrophy-2
MLA “hypomyelinating leukodystrophy 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hypomyelinating-leukodystrophy-2.
BibTeX @misc{4ortxyz_hypomyelinating-leukodystrophy-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hypomyelinating leukodystrophy 2}}, year = {2026}, url = {https://4ort.xyz/entity/hypomyelinating-leukodystrophy-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hypomyelinating leukodystrophy 2 — https://4ort.xyz/entity/hypomyelinating-leukodystrophy-2 (retrieved 2026-05-03)

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