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reticular dysgenesis

Human disease
Class type of: severe combined immunodeficiency, T-B- severe combined immunodeficiency, genetic disease Q7316718

Facts

10 properties
Instance of
rare disease, class of disease[6]
Subclass of
severe combined immunodeficiency, T-B- severe combined immunodeficiency, genetic disease, autosomal recessive disease
Age of onset
infantile onset, neonatal onset[12][13]
Genetic association
AK2[11]
Has phenotype
Kostmann syndrome, severe combined immunodeficiency, deafness, Abnormality of neutrophils, leukopenia, anemia, diarrhea, Recurrent respiratory infections, mitochondrial disease, agammaglobulinemia, Cellular immunodeficiency, sepsis, failure to thrive, weight loss, fever, malabsorption, Skin rash, dehydration, ulcer[15][16][17][18][19][20][21][22][23][24][25][26][27][28]
Health specialty
hematology[10]
NCI Thesaurus ID
C27070[9]
On focus list of Wikimedia project
WikiProject Medicine[14]
Prevalence
+0.000001[8]
Symptoms and signs
lymphopenia[7]
🏷️ Also known as
en SCID with leukopenia en Severe combined immunodeficiency with leukopenia en AK2 deficiency en aleukocytosis en Congenital Aleukia en Congenital aleukocytosis en De Vaal disease en DeVaal disease en Generalized hematopoietic hypoplasia en Hematopoietic Hypoplasia, Generalized en RD en Reticular Dysgenesia en reticular dysgenesis ar خلل تكوين شبكي de Retikuläre Dysgenesie es Disgenesia reticular fr dysgénésie réticulaire ja 細網異形成症
🔖 Identifiers · 14
Disease Ontology ID
DOID:0060020
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
GARD rare disease ID
8625
ICD-10 ID
D81.0
ICD-10-CM
D81.0
KEGG ID
H01128
MeSH descriptor ID
C538361
Microsoft Academic ID (discontinued)
2776976932, 2910738932
Mondo ID
MONDO_0009973
OMIM ID
267500
Orphanet ID
33355
Raras disease ID
D33355
Show all 14 identifiers +2
UMLS CUI
C1282908, C0272167
UniProt disease ID
DI-02261

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Summary

reticular dysgenesis is a rare disease[1]. It is a type of severe combined immunodeficiency[2], T-B- severe combined immunodeficiency[3], genetic disease[4], and autosomal recessive disease[5].

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [16] ↑ . Disease Ontology. Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . Retrieved . wikidata.org.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . 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). reticular dysgenesis. Retrieved November 8, 2026, from https://4ort.xyz/entity/reticular-dysgenesis
MLA “reticular dysgenesis.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Nov. 2026, https://4ort.xyz/entity/reticular-dysgenesis.
BibTeX @misc{4ortxyz_reticular-dysgenesis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{reticular dysgenesis}}, year = {2026}, url = {https://4ort.xyz/entity/reticular-dysgenesis}, note = {Accessed: 2026-11-08}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): reticular dysgenesis — https://4ort.xyz/entity/reticular-dysgenesis (retrieved 2026-11-08)

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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. 17d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → 0.000001
    Age of onset → infantile onset, neonatal onset
    Has phenotype → Kostmann syndrome, severe combined immunodeficiency, deafness +1
    Raras disease ID → D33355
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    NCI Thesaurus ID → C27070
    On focus list of Wikimedia project → WikiProject Medicine
    GARD rare disease ID → 8625
    Health specialty → hematology
    + 18 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39943: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.