amelogenesis imperfecta type 1A

amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32
MedicalCondition rare_disease Q27674799
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amelogenesis imperfecta type 1A

Summary

amelogenesis imperfecta type 1A is a rare disease[1].

Key Facts

  • amelogenesis imperfecta type 1A's instance of is recorded as rare disease[2].
  • amelogenesis imperfecta type 1A's instance of is recorded as class of disease[3].
  • amelogenesis imperfecta type 1A's subclass of is recorded as amelogenesis imperfecta[4].
  • amelogenesis imperfecta type 1A's subclass of is recorded as autosomal dominant disease[5].
  • amelogenesis imperfecta type 1A's OMIM ID is recorded as 104530[6].
  • amelogenesis imperfecta type 1A's Disease Ontology ID is recorded as DOID:0110054[7].
  • amelogenesis imperfecta type 1A's health specialty is recorded as gastroenterology[8].
  • amelogenesis imperfecta type 1A's genetic association is recorded as LAMB3[9].
  • amelogenesis imperfecta type 1A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110054[10].
  • amelogenesis imperfecta type 1A's exact match is recorded as http://identifiers.org/doid/DOID:0110054[11].
  • amelogenesis imperfecta type 1A's UMLS CUI is recorded as C0399367[12].
  • amelogenesis imperfecta type 1A's ICD-10-CM is recorded as K00.5[13].
  • amelogenesis imperfecta type 1A's GARD rare disease ID is recorded as 645[14].
  • amelogenesis imperfecta type 1A's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
  • amelogenesis imperfecta type 1A's Mondo ID is recorded as MONDO_0007094[16].
  • amelogenesis imperfecta type 1A's UniProt disease ID is recorded as DI-04344[17].

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] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] . Disease Ontology. Retrieved . wikidata.org.
  7. [8] . wikidata.org.
  8. [9] . Q905695. Retrieved . wikidata.org.
  9. [10] . Disease Ontology. Retrieved . wikidata.org.
  10. [11] . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  11. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] . Disease Ontology. Retrieved . wikidata.org.
  13. [14] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] . wikidata.org.
  15. [16] . wikidata.org.
  16. [17] . 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). amelogenesis imperfecta type 1A. Retrieved May 3, 2026, from https://4ort.xyz/entity/amelogenesis-imperfecta-type-1a
MLA “amelogenesis imperfecta type 1A.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/amelogenesis-imperfecta-type-1a.
BibTeX @misc{4ortxyz_amelogenesis-imperfecta-type-1a_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{amelogenesis imperfecta type 1A}}, year = {2026}, url = {https://4ort.xyz/entity/amelogenesis-imperfecta-type-1a}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): amelogenesis imperfecta type 1A — https://4ort.xyz/entity/amelogenesis-imperfecta-type-1a (retrieved 2026-05-03)

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