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Simpson-Golabi-Behmel syndrome type 2

X-linked recessive disease that has material basis in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems
MedicalCondition class_of_disease Q55999497
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Summary

Simpson-Golabi-Behmel syndrome type 2 is a class of disease[1].

Key Facts

  • Simpson-Golabi-Behmel syndrome type 2's instance of is recorded as class of disease[2].
  • Simpson-Golabi-Behmel syndrome type 2 is a type of X-linked recessive disease[3].
  • Simpson-Golabi-Behmel syndrome type 2 is a type of Simpson-Golabi-Behmel syndrome[4].
  • Simpson-Golabi-Behmel syndrome type 2's genetic association is recorded as OFD1[5].
  • Simpson-Golabi-Behmel syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79022[6].
  • Simpson-Golabi-Behmel syndrome type 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080342[7].
  • Simpson-Golabi-Behmel syndrome type 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[8].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . 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). Simpson-Golabi-Behmel syndrome type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/simpson-golabi-behmel-syndrome-type-2
MLA “Simpson-Golabi-Behmel syndrome type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/simpson-golabi-behmel-syndrome-type-2.
BibTeX @misc{4ortxyz_simpson-golabi-behmel-syndrome-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Simpson-Golabi-Behmel syndrome type 2}}, year = {2026}, url = {https://4ort.xyz/entity/simpson-golabi-behmel-syndrome-type-2}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Simpson-Golabi-Behmel syndrome type 2 — https://4ort.xyz/entity/simpson-golabi-behmel-syndrome-type-2 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/simpson-golabi-behmel-syndrome-type-2 · Last refreshed:

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. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0010265
    Imported from → —
    Umls cui → C1846175
    Disease ontology id → DOID:0080342
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39953|batch #39953]]: deprecate redundant disease superclasses (2)"
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