autosomal recessive cutis laxa type 2

MedicalCondition developmental_defect_during_embryogenesis Q55788726

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autosomal recessive cutis laxa type 2

Summary

autosomal recessive cutis laxa type 2 is a developmental defect during embryogenesis^[1].

Key Facts

autosomal recessive cutis laxa type 2's instance of is recorded as developmental defect during embryogenesis^[2].
autosomal recessive cutis laxa type 2's instance of is recorded as class of disease^[3].
autosomal recessive cutis laxa type 2 is a type of autosomal recessive disease^[4].
autosomal recessive cutis laxa type 2 is a type of primary bone dysplasia with decreased bone density^[5].
autosomal recessive cutis laxa type 2 is a type of hyperprolinemia^[6].
autosomal recessive cutis laxa type 2 is a type of developmental anomaly of metabolic origin^[7].
autosomal recessive cutis laxa type 2 is a type of cutis laxa^[8].
autosomal recessive cutis laxa type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_90350^[9].

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Quick Facts

Instance of class of disease

Subclass of autosomal recessive disease, primary bone dysplasia with decreased bone density, hyperprolinemia, developmental anomaly of metabolic origin, cutis laxa, developmental defect during embryogenesis

Properties

Exact match www.orpha.net

External References (7)

Gard rare disease id 1641

Icd-10-cm Q82.8

Mesh descriptor id C567855

Mondo id MONDO_0019573

Omim id 612940

Orphanet id 90350

Umls cui C0432337

References

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

Direct Wikidata claims

[2] ↑ autosomal recessive cutis laxa type 2 — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ autosomal recessive cutis laxa type 2 — instance of (P31): class of disease. wikidata.org.
[4] ↑ autosomal recessive cutis laxa type 2 — subclass of (P279): autosomal recessive disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ autosomal recessive cutis laxa type 2 — subclass of (P279): primary bone dysplasia with decreased bone density. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ autosomal recessive cutis laxa type 2 — subclass of (P279): hyperprolinemia. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ autosomal recessive cutis laxa type 2 — subclass of (P279): developmental anomaly of metabolic origin. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ autosomal recessive cutis laxa type 2 — subclass of (P279): cutis laxa. wikidata.org.
[9] ↑ autosomal recessive cutis laxa type 2 — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_90350. wikidata.org.

Class ancestry

[1] ↑ autosomal recessive cutis laxa type 2 is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. 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). autosomal recessive cutis laxa type 2. Retrieved May 3, 2026, from https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-2

MLA

“autosomal recessive cutis laxa type 2.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-2.

BibTeX

@misc{4ortxyz_autosomal-recessive-cutis-laxa-type-2_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{autosomal recessive cutis laxa type 2}}, year = {2026}, url = {https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-2}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): autosomal recessive cutis laxa type 2 — https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-2 (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/autosomal-recessive-cutis-laxa-type-2 · Last refreshed: May 3, 2026

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.

1d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0019573

Gard rare disease id → 1641

Orphanet id → 90350

Instance of → developmental defect during embryogenesis, class of disease

+ 7 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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