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X-linked intellectual disability-psychosis-macroorchidism syndrome

syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has material basis in mutation in the MECP2 gene on chromosome Xq28
MedicalCondition rare_disease Q28065631
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X-linked intellectual disability-psychosis-macroorchidism syndrome

Summary

X-linked intellectual disability-psychosis-macroorchidism syndrome is a rare disease[1].

Key Facts

  • X-linked intellectual disability-psychosis-macroorchidism syndrome's instance of is recorded as rare disease[2].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's instance of is recorded as class of disease[3].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's subclass of is recorded as X-linked intellectual disability[4].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's OMIM ID is recorded as 300055[5].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's Disease Ontology ID is recorded as DOID:0060827[6].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's Orphanet ID is recorded as 3077[7].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's genetic association is recorded as MECP2[8].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060827[9].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060827[10].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's UMLS CUI is recorded as C3713418[11].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's UMLS CUI is recorded as C0796222[12].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's ICD-10-CM is recorded as F71.1[13].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's GARD rare disease ID is recorded as 3506[14].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
  • X-linked intellectual disability-psychosis-macroorchidism syndrome's Genetics Home Reference Conditions ID is recorded as ppm-x-syndrome[16].

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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . UMLS 2023. Retrieved . wikidata.org.
  12. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . wikidata.org.
  15. [16] ↑ . 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). X-linked intellectual disability-psychosis-macroorchidism syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome
MLA “X-linked intellectual disability-psychosis-macroorchidism syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome.
BibTeX @misc{4ortxyz_x-linked-intellectual-disability-psychosis-macroorchidism-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{X-linked intellectual disability-psychosis-macroorchidism syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): X-linked intellectual disability-psychosis-macroorchidism syndrome — https://4ort.xyz/entity/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome (retrieved 2026-05-03)

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