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Young-Simpson syndrome

Human disease
Class type of: congenital disorder, blepharophimosis-intellectual disability syndrome, Ohdo type, syndromic hypothyroidism Q8058422

Facts

10 properties
Instance of
designated intractable/rare disease, rare disease, class of disease[2][3]
Subclass of
congenital disorder, blepharophimosis-intellectual disability syndrome, Ohdo type, syndromic hypothyroidism, developmental defect during embryogenesis[4][5][6][7]
Age of onset
congenital onset, infantile onset, neonatal onset[13][14][15]
Genetic association
KAT6B[12]
Has phenotype
retrognathism, micrognathism, nose, anomalous shape of, blepharophimosis, hypothyroidism, disability affecting intellectual abilities, specific learning disability, dwarfism, seizure, failure to thrive, polyhydramnios, atrial heart septal defect, Recurrent respiratory infections, hypospadias, tongue cancer[17][18][19][20][21][22][23][24][25][26][27][28][29][30]
ICD-9-CM
759.89[10]
NCI Thesaurus ID
C206524[11]
On focus list of Wikimedia project
WikiProject Medicine[16]
Prevalence
+0.000001[9]
Symptoms and signs
ptosis[8]
🏷️ Also known as
en blepharophimosis-intellectual disability syndrome, SBBYS type en Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome en Ohdo syndrome, SBBYS Variant en OHDO SYNDROME, SBBYS VARIANT; SBBYSS en Say-Barber-Biesecker-Young-Simpson syndrome en SBBYSS en Young-Simpson syndrome fr syndrome de blépharophimosis-déficience intellectuelle type SBBYS fr Syndrome de blépharophimosis-déficit intéllectuel type SBBYS fr syndrome de Young-Simpson
🔖 Identifiers · 15
Disease Ontology ID
DOID:0060290
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
External data available at URL
www.nanbyou.or.jp
ICD-10-CM
Q87.8
ICD-11 ID (Foundation)
130946618
KEGG ID
H01793
MeSH descriptor ID
C536717
Microsoft Academic ID (discontinued)
2777320691
Mondo ID
MONDO_0011365
OMIM ID
603736
Orphanet ID
3047
Raras disease ID
D03047
Show all 15 identifiers +3
SNOMED CT ID
699298009
UMLS CUI
C1863557
UniProt disease ID
DI-03311

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Summary

Young-Simpson syndrome is a designated intractable/rare disease[1].

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] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . 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.
  28. [29] ↑ . Retrieved . wikidata.org.
  29. [30] ↑ . Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). Young-Simpson syndrome. Retrieved November 10, 2026, from https://4ort.xyz/entity/young-simpson-syndrome
MLA “Young-Simpson syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 10 Nov. 2026, https://4ort.xyz/entity/young-simpson-syndrome.
BibTeX @misc{4ortxyz_young-simpson-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Young-Simpson syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/young-simpson-syndrome}, note = {Accessed: 2026-11-10}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Young-Simpson syndrome — https://4ort.xyz/entity/young-simpson-syndrome (retrieved 2026-11-10)

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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. 18d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → 0.000001
    Age of onset → congenital onset, infantile onset, neonatal onset
    Has phenotype → retrognathism, micrognathism, nose, anomalous shape of +1
    Raras disease ID → D03047
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo ID → MONDO_0011365
    Orphanet ID → 3047
    MeSH descriptor ID → C536717
    OMIM ID → 603736
    + 18 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39742: subclass of disease, not instance"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.