X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55782500

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X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

Summary

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a developmental defect during embryogenesis^[1].

Key Facts

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's instance of is recorded as rare disease^[3].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's instance of is recorded as class of disease^[4].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a type of syndromic microphthalmia^[5].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[6].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a type of malformation syndrome with short stature^[7].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a type of X-linked disease^[8].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's genetic association is recorded as HMGB3^[9].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_431140^[10].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111811^[11].
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111811^[12].

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Quick Facts

Instance of rare disease, class of disease

Subclass of syndromic microphthalmia, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, malformation syndrome with short stature, X-linked disease, developmental defect during embryogenesis

Properties

Exact match www.orpha.net, purl.obolibrary.org, identifiers.org

Genetic association HMGB3

External References (7)

Disease ontology id DOID:0111811

Icd-10-cm Q87.0

Mondo id MONDO_0010485

Omim id 300915

Orphanet id 431140

Umls cui C3806742, C4749694

Uniprot disease id DI-04169

References

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

Direct Wikidata claims

[2] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — instance of (P31): rare disease. wikidata.org.
[4] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — instance of (P31): class of disease. wikidata.org.
[5] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — subclass of (P279): syndromic microphthalmia. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — subclass of (P279): multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — subclass of (P279): malformation syndrome with short stature. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — subclass of (P279): X-linked disease. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[9] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — genetic association (P2293): HMGB3. Q905695. Retrieved 2019-08-13. wikidata.org.
[10] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_431140. wikidata.org.
[11] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111811. Disease Ontology. Retrieved 2021-11-29. wikidata.org.
[12] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — exact match (P2888): http://identifiers.org/doid/DOID:0111811. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is an instance of developmental defect during embryogenesis (Q55788864) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome

MLA

“X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome.

BibTeX

@misc{4ortxyz_x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome — https://4ort.xyz/entity/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome · 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.

12d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0010485

Genetic association → HMGB3

Orphanet id → 431140

Instance of → developmental defect during embryogenesis, rare disease, class of disease

+ 9 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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