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Opitz-GBBB syndrome

monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form
MedicalCondition rare_disease Q3508750
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Opitz-GBBB syndrome

Summary

Opitz-GBBB syndrome is a rare disease[1]. It draws 12 Wikipedia views per month (rare_disease category, ranking #226 of 627).[2]

Key Facts

  • Opitz-GBBB syndrome's instance of is recorded as rare disease[3].
  • Opitz-GBBB syndrome's instance of is recorded as class of disease[4].
  • John Marius Opitz is named after Opitz-GBBB syndrome[5].
  • Opitz-GBBB syndrome's subclass of is recorded as X-linked recessive disease[6].
  • Opitz-GBBB syndrome's subclass of is recorded as autosomal dominant disease[7].
  • Opitz-GBBB syndrome's subclass of is recorded as syndrome[8].
  • Opitz-GBBB syndrome's subclass of is recorded as monogenic disease[9].
  • Opitz-GBBB syndrome's OMIM ID is recorded as 145410[10].
  • Opitz-GBBB syndrome's OMIM ID is recorded as 300000[11].
  • Opitz-GBBB syndrome's KEGG ID is recorded as H00583[12].
  • Opitz-GBBB syndrome's Disease Ontology ID is recorded as DOID:0050780[13].
  • Opitz-GBBB syndrome's symptoms and signs is recorded as hypertelorism[14].
  • Opitz-GBBB syndrome's symptoms and signs is recorded as tracheomalacia[15].
  • Opitz-GBBB syndrome's symptoms and signs is recorded as hypospadias[16].
  • Opitz-GBBB syndrome's symptoms and signs is recorded as imperforate anus[17].
  • Opitz-GBBB syndrome's Orphanet ID is recorded as 2745[18].
  • Opitz-GBBB syndrome's ICD-9-CM is recorded as 758.89[19].
  • Opitz-GBBB syndrome's NCI Thesaurus ID is recorded as C125487[20].
  • Opitz-GBBB syndrome's genetic association is recorded as SPECC1L[21].
  • Opitz-GBBB syndrome's genetic association is recorded as MID1[22].
  • Opitz-GBBB syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050780[23].
  • Opitz-GBBB syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050780[24].
  • Opitz-GBBB syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2745[25].
  • Opitz-GBBB syndrome's UMLS CUI is recorded as C2936904[26].
  • Opitz-GBBB syndrome's UMLS CUI is recorded as C1801950[27].

Why It Matters

Opitz-GBBB syndrome draws 12 Wikipedia views per month (rare_disease category, ranking #226 of 627).[2] It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[28] It is known by 20 alternative names across languages and contexts.[29]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . wikidata.org.
  4. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . Disease Ontology. Retrieved . wikidata.org.
  12. [14] ↑ . The MID1 gene product in physiology and disease. wikidata.org.
  13. [15] ↑ . The MID1 gene product in physiology and disease. wikidata.org.
  14. [16] ↑ . The MID1 gene product in physiology and disease. wikidata.org.
  15. [17] ↑ . MID1 mutations in patients with X-linked Opitz G/BBB syndrome. wikidata.org.
  16. [18] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [19] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [20] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [21] ↑ . Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. wikidata.org.
  20. [22] ↑ . Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. wikidata.org.
  21. [23] ↑ . Disease Ontology. Retrieved . wikidata.org.
  22. [24] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  23. [25] ↑ . wikidata.org.
  24. [26] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  25. [27] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] ↑ . Wikidata sitelinks. wikidata.org.
  3. [29] ↑ . Wikidata aliases. 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). Opitz-GBBB syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/opitz-gbbb-syndrome
MLA “Opitz-GBBB syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/opitz-gbbb-syndrome.
BibTeX @misc{4ortxyz_opitz-gbbb-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Opitz-GBBB syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/opitz-gbbb-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Opitz-GBBB syndrome — https://4ort.xyz/entity/opitz-gbbb-syndrome (retrieved 2026-05-03)

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