trichorhinophalangeal syndrome type II

Human disease
MedicalCondition developmental_defect_during_embryogenesis Q3508795
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trichorhinophalangeal syndrome type II

Summary

trichorhinophalangeal syndrome type II is a developmental defect during embryogenesis[1]. It is known by 11 alternative names across languages and contexts.[2]

Key Facts

  • trichorhinophalangeal syndrome type II's instance of is recorded as developmental defect during embryogenesis[3].
  • trichorhinophalangeal syndrome type II's instance of is recorded as class of disease[4].
  • trichorhinophalangeal syndrome type II is a type of autosomal dominant disease[5].
  • trichorhinophalangeal syndrome type II is a type of Tricho–rhino–phalangeal syndrome[6].
  • trichorhinophalangeal syndrome type II is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[7].
  • trichorhinophalangeal syndrome type II is a type of partial deletion of the long arm of chromosome 8[8].
  • trichorhinophalangeal syndrome type II is a type of genetic syndromic intellectual disability[9].
  • trichorhinophalangeal syndrome type II is a type of syndrome[10].
  • trichorhinophalangeal syndrome type II's Commons category is recorded as Langer-Giedion syndrome[11].
  • trichorhinophalangeal syndrome type II's symptoms and signs is recorded as short stature[12].
  • trichorhinophalangeal syndrome type II's ICD-9-CM is recorded as 759.89[13].
  • trichorhinophalangeal syndrome type II's NCI Thesaurus ID is recorded as C75118[14].
  • trichorhinophalangeal syndrome type II's health specialty is recorded as medical genetics[15].
  • trichorhinophalangeal syndrome type II's genetic association is recorded as TRPS1[16].
  • trichorhinophalangeal syndrome type II's genetic association is recorded as EXT1[17].
  • trichorhinophalangeal syndrome type II's exact match is recorded as http://purl.obolibrary.org/obo/DOID_4998[18].
  • trichorhinophalangeal syndrome type II's exact match is recorded as http://identifiers.org/doid/DOID:4998[19].
  • trichorhinophalangeal syndrome type II's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_502[20].
  • trichorhinophalangeal syndrome type II's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].

Why It Matters

trichorhinophalangeal syndrome type II is known by 11 alternative names across languages and contexts.[2]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . Disease Ontology. Retrieved . wikidata.org.
  4. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Disease Ontology. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Disease Ontology. Retrieved . wikidata.org.
  11. [13] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [14] . Disease Ontology. Retrieved . wikidata.org.
  13. [15] . wikidata.org.
  14. [16] . Q905695. Retrieved . wikidata.org.
  15. [17] . Q905695. Retrieved . wikidata.org.
  16. [18] . Disease Ontology. Retrieved . wikidata.org.
  17. [19] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  18. [20] . wikidata.org.
  19. [21] . 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). trichorhinophalangeal syndrome type II. Retrieved May 3, 2026, from https://4ort.xyz/entity/trichorhinophalangeal-syndrome-type-ii
MLA “trichorhinophalangeal syndrome type II.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/trichorhinophalangeal-syndrome-type-ii.
BibTeX @misc{4ortxyz_trichorhinophalangeal-syndrome-type-ii_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{trichorhinophalangeal syndrome type II}}, year = {2026}, url = {https://4ort.xyz/entity/trichorhinophalangeal-syndrome-type-ii}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): trichorhinophalangeal syndrome type II — https://4ort.xyz/entity/trichorhinophalangeal-syndrome-type-ii (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. 5d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of autosomal dominant disease, Tricho–rhino–phalangeal syndrome, multiple congenital anomalies/dysmorphic syndrome-intellectual disability +3
    Health specialty medical genetics
    Genetic association TRPS1, EXT1
    Subclass of
    + 5 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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