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congenital stationary night blindness 1E

congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12
MedicalCondition rare_disease Q32144078
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Summary

congenital stationary night blindness 1E is a rare disease[1]. It is known by 7 alternative names across languages and contexts.[2]

Key Facts

  • Instance of: class of disease[3]
  • Subclass of: congenital stationary night blindness[4], genetic disease[5], autosomal recessive disease[6]
  • Genetic association: GPR179[7]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0110869[8], http://identifiers.org/doid/DOID:0110869[9]
  • On focus list of Wikimedia project: WikiProject Medicine[10]

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . UniProt. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  8. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. 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). congenital stationary night blindness 1E. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-stationary-night-blindness-1e
MLA “congenital stationary night blindness 1E.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-stationary-night-blindness-1e.
BibTeX @misc{4ortxyz_congenital-stationary-night-blindness-1e_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital stationary night blindness 1E}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-stationary-night-blindness-1e}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital stationary night blindness 1E — https://4ort.xyz/entity/congenital-stationary-night-blindness-1e (retrieved 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. 15w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0013807
    Imported from → —
    Umls cui → C3281215
    Disease ontology id → DOID:0110869
    + 8 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"
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