Guttmacher syndrome

Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias
MedicalCondition developmental_defect_during_embryogenesis Q55781403
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Guttmacher syndrome

Summary

Guttmacher syndrome is a developmental defect during embryogenesis[1]. It is known by 4 alternative names across languages and contexts.[2]

Key Facts

  • Guttmacher syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Guttmacher syndrome's instance of is recorded as rare disease[4].
  • Guttmacher syndrome's instance of is recorded as class of disease[5].
  • Guttmacher syndrome is a type of syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy[6].
  • Guttmacher syndrome is a type of syndromic urogenital tract malformation[7].
  • Guttmacher syndrome is a type of syndrome[8].
  • Guttmacher syndrome is a type of autosomal dominant disease[9].
  • Guttmacher syndrome's genetic association is recorded as HOXA13[10].
  • Guttmacher syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2957[11].
  • Guttmacher syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111544[12].
  • Guttmacher syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111544[13].

Why It Matters

Guttmacher syndrome is known by 4 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] ↑ . 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] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Q905695. Retrieved . wikidata.org.
  9. [11] ↑ . wikidata.org.
  10. [12] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [13] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikidata aliases. wikidata.org.

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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. 12w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0008301
    Genetic association → HOXA13
    Kegg id → H00859
    Orphanet id → 2957
    + 12 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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