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Genitopatellar syndrome

medical condition
Class type of: patellar dysostosis, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, genetic syndromic intellectual disability Q5533246

Facts

8 properties
Instance of
rare disease, class of disease[6]
Subclass of
patellar dysostosis, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, genetic syndromic intellectual disability, developmental defect during embryogenesis
Age of onset
childhood onset[10]
Genetic association
KAT6B[9]
Has phenotype
coarse facial features, clitoromegaly, hypertelorism, seizure, apnea[11][12][13][14][15]
ICD-9-CM
759.89[8]
P14914
D85201[16]
Prevalence
+0.000001[7]
🏷️ Also known as
en GTPTS en Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation en Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome en Genitopatellar syndrome en GENITOPATELLAR SYNDROME en GENITOPATELLAR SYNDROME; GTPTS ar متلازمة رضفية تناسلية fa سندرم ژنیتوپاتلار fr syndrome génito-patellaire tr Genitopatellar sendrom
🔖 Identifiers · 13
DiseasesDB
35131
Exact match
www.orpha.net
GARD rare disease ID
10994
Genetics Home Reference Conditions ID
genitopatellar-syndrome
ICD-10-CM
Q87.8
KEGG ID
H01794
MeSH descriptor ID
C565255
Microsoft Academic ID (discontinued)
2777767922
Mondo ID
MONDO_0011640
OMIM ID
606170
Orphanet ID
85201
UMLS CUI
C1853566
Show all 13 identifiers +1
UniProt disease ID
DI-03437

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🔗 Connections
Instance of 1
rare disease
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Summary

Genitopatellar syndrome is a rare disease[1]. It is a type of patellar dysostosis[2], multiple congenital anomalies/dysmorphic syndrome-intellectual disability[3], genetic syndromic intellectual disability[4], and developmental defect during embryogenesis[5].

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . Retrieved . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . 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). Genitopatellar syndrome. Retrieved November 5, 2026, from https://4ort.xyz/entity/genitopatellar-syndrome
MLA “Genitopatellar syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Nov. 2026, https://4ort.xyz/entity/genitopatellar-syndrome.
BibTeX @misc{4ortxyz_genitopatellar-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Genitopatellar syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/genitopatellar-syndrome}, note = {Accessed: 2026-11-05}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Genitopatellar syndrome — https://4ort.xyz/entity/genitopatellar-syndrome (retrieved 2026-11-05)

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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. 15d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → {'amount': '+0.000001'}
    Wikipedia languages → ['ar', 'bs', 'en', 'fa', 'tr']
    Age of onset → childhood onset
    Has phenotype → coarse facial features, clitoromegaly, hypertelorism +2
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Genetic association → KAT6B
    Subclass of → —
    Instance of → rare disease, class of disease
    Instance of → —
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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