pontocerebellar hypoplasia type 2D

human disease
MedicalCondition rare_disease Q18966152
Press Enter · cited answer in seconds

pontocerebellar hypoplasia type 2D

Summary

pontocerebellar hypoplasia type 2D is a rare disease[1].

Key Facts

  • pontocerebellar hypoplasia type 2D's instance of is recorded as rare disease[2].
  • pontocerebellar hypoplasia type 2D's instance of is recorded as class of disease[3].
  • pontocerebellar hypoplasia type 2D's subclass of is recorded as non-syndromic pontocerebellar hypoplasia[4].
  • pontocerebellar hypoplasia type 2D's subclass of is recorded as pontocerebellar hypoplasia type 2[5].
  • pontocerebellar hypoplasia type 2D's OMIM ID is recorded as 613811[6].
  • pontocerebellar hypoplasia type 2D's Disease Ontology ID is recorded as DOID:0060270[7].
  • pontocerebellar hypoplasia type 2D's Orphanet ID is recorded as 2524[8].
  • pontocerebellar hypoplasia type 2D's health specialty is recorded as medical genetics[9].
  • pontocerebellar hypoplasia type 2D's genetic association is recorded as SEPSECS[10].
  • pontocerebellar hypoplasia type 2D's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060270[11].
  • pontocerebellar hypoplasia type 2D's exact match is recorded as http://identifiers.org/doid/DOID:0060270[12].
  • pontocerebellar hypoplasia type 2D's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2524[13].
  • pontocerebellar hypoplasia type 2D's UMLS CUI is recorded as C3151140[14].
  • pontocerebellar hypoplasia type 2D's ICD-10-CM is recorded as Q04.3[15].
  • pontocerebellar hypoplasia type 2D's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • pontocerebellar hypoplasia type 2D's Mondo ID is recorded as MONDO_0013438[17].
  • pontocerebellar hypoplasia type 2D's UniProt disease ID is recorded as DI-03066[18].

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] . Monarch Disease Ontology release 2018-06-29. 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] . wikidata.org.
  9. [10] . Q905695. Retrieved . wikidata.org.
  10. [11] . Disease Ontology. Retrieved . wikidata.org.
  11. [12] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Disease Ontology. Retrieved . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . wikidata.org.
  17. [18] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. 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). pontocerebellar hypoplasia type 2D. Retrieved May 3, 2026, from https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2d
MLA “pontocerebellar hypoplasia type 2D.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2d.
BibTeX @misc{4ortxyz_pontocerebellar-hypoplasia-type-2d_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pontocerebellar hypoplasia type 2D}}, year = {2026}, url = {https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2d}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pontocerebellar hypoplasia type 2D — https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2d (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2d · Last refreshed: