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autosomal recessive congenital ichthyosis 1

autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2
MedicalCondition class_of_disease Q28024490
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autosomal recessive congenital ichthyosis 1

Summary

autosomal recessive congenital ichthyosis 1 is a class of disease[1].

Key Facts

  • autosomal recessive congenital ichthyosis 1's instance of is recorded as class of disease[2].
  • autosomal recessive congenital ichthyosis 1's subclass of is recorded as autosomal recessive congenital ichthyosis[3].
  • autosomal recessive congenital ichthyosis 1's OMIM ID is recorded as 242300[4].
  • autosomal recessive congenital ichthyosis 1's Disease Ontology ID is recorded as DOID:0060656[5].
  • autosomal recessive congenital ichthyosis 1's Orphanet ID is recorded as 281122[6].
  • autosomal recessive congenital ichthyosis 1's Orphanet ID is recorded as 313[7].
  • autosomal recessive congenital ichthyosis 1's Orphanet ID is recorded as 100976[8].
  • autosomal recessive congenital ichthyosis 1's health specialty is recorded as medical genetics[9].
  • autosomal recessive congenital ichthyosis 1's genetic association is recorded as TGM1[10].
  • autosomal recessive congenital ichthyosis 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060656[11].
  • autosomal recessive congenital ichthyosis 1's exact match is recorded as http://identifiers.org/doid/DOID:0060656[12].
  • autosomal recessive congenital ichthyosis 1's UMLS CUI is recorded as C1855789[13].
  • autosomal recessive congenital ichthyosis 1's UMLS CUI is recorded as C4511230[14].
  • autosomal recessive congenital ichthyosis 1's ICD-10-CM is recorded as Q80.2[15].
  • autosomal recessive congenital ichthyosis 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
  • autosomal recessive congenital ichthyosis 1's Mondo ID is recorded as MONDO_0015085[17].
  • autosomal recessive congenital ichthyosis 1's ICD-11 ID is recorded as 174005370[18].
  • autosomal recessive congenital ichthyosis 1's UniProt disease ID is recorded as DI-01230[19].

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  12. [13] ↑ . UMLS 2023. Retrieved . wikidata.org.
  13. [14] ↑ . UMLS 2023. Retrieved . wikidata.org.
  14. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). autosomal recessive congenital ichthyosis 1. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis-1
MLA “autosomal recessive congenital ichthyosis 1.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis-1.
BibTeX @misc{4ortxyz_autosomal-recessive-congenital-ichthyosis-1_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive congenital ichthyosis 1}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-congenital-ichthyosis-1}, note = {Accessed: 2026-05-03}}
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