hypoplastic tibiae-postaxial polydactyly syndrome

a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands
MedicalCondition rare_disease Q17122962
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hypoplastic tibiae-postaxial polydactyly syndrome

Summary

hypoplastic tibiae-postaxial polydactyly syndrome is a rare disease[1].

Key Facts

  • hypoplastic tibiae-postaxial polydactyly syndrome's instance of is recorded as rare disease[2].
  • hypoplastic tibiae-postaxial polydactyly syndrome's instance of is recorded as class of disease[3].
  • hypoplastic tibiae-postaxial polydactyly syndrome's subclass of is recorded as autosomal dominant disease[4].
  • hypoplastic tibiae-postaxial polydactyly syndrome's subclass of is recorded as syndrome[5].
  • hypoplastic tibiae-postaxial polydactyly syndrome's MeSH descriptor ID is recorded as C535564[6].
  • hypoplastic tibiae-postaxial polydactyly syndrome's OMIM ID is recorded as 188740[7].
  • hypoplastic tibiae-postaxial polydactyly syndrome's Disease Ontology ID is recorded as DOID:0111564[8].
  • hypoplastic tibiae-postaxial polydactyly syndrome's symptoms and signs is recorded as mesomelia[9].
  • hypoplastic tibiae-postaxial polydactyly syndrome's Orphanet ID is recorded as 3332[10].
  • hypoplastic tibiae-postaxial polydactyly syndrome's different from is recorded as Werner syndrome[11].
  • hypoplastic tibiae-postaxial polydactyly syndrome's genetic association is recorded as LMBR1[12].
  • hypoplastic tibiae-postaxial polydactyly syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3332[13].
  • hypoplastic tibiae-postaxial polydactyly syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111564[14].
  • hypoplastic tibiae-postaxial polydactyly syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111564[15].
  • hypoplastic tibiae-postaxial polydactyly syndrome's UMLS CUI is recorded as C1861099[16].
  • hypoplastic tibiae-postaxial polydactyly syndrome's ICD-10-CM is recorded as Q74.8[17].
  • hypoplastic tibiae-postaxial polydactyly syndrome's GARD rare disease ID is recorded as 8309[18].
  • hypoplastic tibiae-postaxial polydactyly syndrome's Mondo ID is recorded as MONDO_0018052[19].

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] . wikidata.org.
  6. [7] . wikidata.org.
  7. [8] . Disease Ontology. Retrieved . wikidata.org.
  8. [9] . wikidata.org.
  9. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] . wikidata.org.
  11. [12] . A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb. wikidata.org.
  12. [13] . wikidata.org.
  13. [14] . Disease Ontology. Retrieved . wikidata.org.
  14. [15] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] . wikidata.org.
  18. [19] . wikidata.org.

Class ancestry

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

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