infantile cerebellar-retinal degeneration

neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration
MedicalCondition rare_disease Q18553533
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infantile cerebellar-retinal degeneration

Summary

infantile cerebellar-retinal degeneration is a rare disease[1]. It draws 1 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]

Key Facts

  • infantile cerebellar-retinal degeneration's instance of is recorded as rare disease[3].
  • infantile cerebellar-retinal degeneration's instance of is recorded as class of disease[4].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as neurodegeneration[5].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as eye degenerative disease[6].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as nervous system heredodegenerative disease[7].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as neurometabolic disease[8].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as hereditary retinal dystrophy[9].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as tricarboxylic acid cycle disorder[10].
  • infantile cerebellar-retinal degeneration's subclass of is recorded as autosomal recessive disease[11].
  • infantile cerebellar-retinal degeneration's OMIM ID is recorded as 614559[12].
  • infantile cerebellar-retinal degeneration's KEGG ID is recorded as H02113[13].
  • infantile cerebellar-retinal degeneration's Disease Ontology ID is recorded as DOID:0050883[14].
  • infantile cerebellar-retinal degeneration's symptoms and signs is recorded as retinal degeneration[15].
  • infantile cerebellar-retinal degeneration's symptoms and signs is recorded as neonatal hypotonia[16].
  • infantile cerebellar-retinal degeneration's Orphanet ID is recorded as 313850[17].
  • infantile cerebellar-retinal degeneration's genetic association is recorded as ACO2[18].
  • infantile cerebellar-retinal degeneration's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050883[19].
  • infantile cerebellar-retinal degeneration's exact match is recorded as http://identifiers.org/doid/DOID:0050883[20].
  • infantile cerebellar-retinal degeneration's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_313850[21].
  • infantile cerebellar-retinal degeneration's UMLS CUI is recorded as C3281192[22].
  • infantile cerebellar-retinal degeneration's ICD-10-CM is recorded as E88.8[23].
  • infantile cerebellar-retinal degeneration's GARD rare disease ID is recorded as 13264[24].
  • infantile cerebellar-retinal degeneration's on focus list of Wikimedia project is recorded as WikiProject Medicine[25].
  • infantile cerebellar-retinal degeneration's Mondo ID is recorded as MONDO_0013802[26].
  • infantile cerebellar-retinal degeneration's UniProt disease ID is recorded as DI-03409[27].

Why It Matters

infantile cerebellar-retinal degeneration draws 1 Wikipedia views per month (rare_disease category, ranking #237 of 627).[2]

References

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

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Disease Ontology. Retrieved . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . Purkinje cell degeneration, a new neurological mutation in the mouse. wikidata.org.
  14. [16] . Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. wikidata.org.
  15. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [18] . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  17. [19] . Disease Ontology. Retrieved . wikidata.org.
  18. [20] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  19. [21] . wikidata.org.
  20. [22] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  21. [23] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  22. [24] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikimedia Foundation. dumps.wikimedia.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). infantile cerebellar-retinal degeneration. Retrieved May 3, 2026, from https://4ort.xyz/entity/infantile-cerebellar-retinal-degeneration
MLA “infantile cerebellar-retinal degeneration.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/infantile-cerebellar-retinal-degeneration.
BibTeX @misc{4ortxyz_infantile-cerebellar-retinal-degeneration_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{infantile cerebellar-retinal degeneration}}, year = {2026}, url = {https://4ort.xyz/entity/infantile-cerebellar-retinal-degeneration}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): infantile cerebellar-retinal degeneration — https://4ort.xyz/entity/infantile-cerebellar-retinal-degeneration (retrieved 2026-05-03)

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