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COACH Syndrome

a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
MedicalCondition class_of_disease Q25326623
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COACH Syndrome

Summary

COACH Syndrome is a class of disease[1]. It is known by 10 alternative names across languages and contexts.[2]

Key Facts

  • COACH Syndrome's instance of is recorded as class of disease[3].
  • COACH Syndrome is a type of syndrome[4].
  • COACH Syndrome is a type of Joubert syndrome[5].
  • COACH Syndrome is a type of Joubert syndrome and related disorders[6].
  • COACH Syndrome is a type of autosomal recessive disease[7].
  • COACH Syndrome's health specialty is recorded as medical genetics[8].
  • COACH Syndrome's genetic association is recorded as CC2D2A[9].
  • COACH Syndrome's genetic association is recorded as RPGRIP1L[10].
  • COACH Syndrome's genetic association is recorded as TMEM67[11].
  • COACH Syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1454[12].
  • COACH Syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111589[13].
  • COACH Syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111589[14].

Why It Matters

COACH Syndrome is known by 10 alternative names across languages and contexts.[2]

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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . wikidata.org.
  7. [9] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [10] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [11] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [14] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. 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). COACH Syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/coach-syndrome
MLA “COACH Syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/coach-syndrome.
BibTeX @misc{4ortxyz_coach-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{COACH Syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/coach-syndrome}, note = {Accessed: 2026-05-03}}
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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. 13d ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Health specialty → medical genetics
    Subclass of → syndrome, Joubert syndrome, Joubert syndrome and related disorders +1
    Subclass of → —
    Genetic association → CC2D2A, RPGRIP1L, TMEM67
    + 3 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)"
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