Pashayan syndrome

Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability
MedicalCondition head_and_neck_disease Q7141967
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Pashayan syndrome

Summary

Pashayan syndrome is a head and neck disease[1].

Key Facts

  • Pashayan syndrome's instance of is recorded as head and neck disease[2].
  • Pashayan syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Pashayan syndrome's instance of is recorded as rare disease[4].
  • Pashayan syndrome's instance of is recorded as class of disease[5].
  • Pashayan syndrome's subclass of is recorded as nose and cavum anomaly[6].
  • Pashayan syndrome's subclass of is recorded as genetic syndromic intellectual disability[7].
  • Pashayan syndrome's subclass of is recorded as genetic otorhinolaryngological malformation[8].
  • Pashayan syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[9].
  • Pashayan syndrome's MeSH descriptor ID is recorded as C536303[10].
  • Pashayan syndrome's OMIM ID is recorded as 110050[11].
  • Pashayan syndrome's OMIM ID is recorded as 601390[12].
  • Pashayan syndrome's DiseasesDB is recorded as 33647[13].
  • Pashayan syndrome's Orphanet ID is recorded as 1252[14].
  • Pashayan syndrome's genetic association is recorded as DCHS1[15].
  • Pashayan syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1252[16].
  • Pashayan syndrome's UMLS CUI is recorded as C0796197[17].
  • Pashayan syndrome's ICD-10-CM is recorded as Q87.0[18].
  • Pashayan syndrome's GARD rare disease ID is recorded as 4238[19].
  • Pashayan syndrome's Mondo ID is recorded as MONDO_0007200[20].

References

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

Direct Wikidata claims

  1. [2] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [4] . wikidata.org.
  4. [5] . wikidata.org.
  5. [6] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] . wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  18. [19] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  19. [20] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). Pashayan syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/pashayan-syndrome
MLA “Pashayan syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pashayan-syndrome.
BibTeX @misc{4ortxyz_pashayan-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Pashayan syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/pashayan-syndrome}, note = {Accessed: 2026-05-03}}
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