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lethal congenital contracture syndrome 4

lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23
MedicalCondition rare_disease Q27674751
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Summary

lethal congenital contracture syndrome 4 is a rare disease[1].

Key Facts

  • lethal congenital contracture syndrome 4's instance of is recorded as rare disease[2].
  • lethal congenital contracture syndrome 4's instance of is recorded as class of disease[3].
  • lethal congenital contracture syndrome 4 is a type of lethal congenital contracture syndrome[4].
  • lethal congenital contracture syndrome 4 is a type of genetic disease[5].
  • lethal congenital contracture syndrome 4's genetic association is recorded as MYBPC1[6].
  • lethal congenital contracture syndrome 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060654[7].
  • lethal congenital contracture syndrome 4's exact match is recorded as http://identifiers.org/doid/DOID:0060654[8].
  • lethal congenital contracture syndrome 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[9].

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] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  8. [9] ↑ . 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). lethal congenital contracture syndrome 4. Retrieved May 3, 2026, from https://4ort.xyz/entity/lethal-congenital-contracture-syndrome-4
MLA “lethal congenital contracture syndrome 4.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/lethal-congenital-contracture-syndrome-4.
BibTeX @misc{4ortxyz_lethal-congenital-contracture-syndrome-4_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{lethal congenital contracture syndrome 4}}, year = {2026}, url = {https://4ort.xyz/entity/lethal-congenital-contracture-syndrome-4}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): lethal congenital contracture syndrome 4 — https://4ort.xyz/entity/lethal-congenital-contracture-syndrome-4 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/lethal-congenital-contracture-syndrome-4 · 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. 15w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0013965
    Imported from → —
    Umls cui → C3554046
    Disease ontology id → DOID:0060654
    + 10 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.