Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

human disease

MedicalCondition developmental_defect_during_embryogenesis Q55782425

Press Enter · cited answer in seconds

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Summary

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a developmental defect during embryogenesis^[1].

Key Facts

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's instance of is recorded as developmental defect during embryogenesis^[2].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's instance of is recorded as rare disease^[3].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's instance of is recorded as class of disease^[4].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability^[5].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a type of congenital hemolytic anemia^[6].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a type of partial deletion of the long arm of chromosome X^[7].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a type of X-linked intellectual disability^[8].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a type of chromosomal deletion syndrome^[9].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is a type of syndrome^[10].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's genetic association is recorded as AMMECR1^[11].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's genetic association is recorded as KCNE5^[12].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's genetic association is recorded as ACSL4^[13].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_86818^[14].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111860^[15].
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111860^[16].

⭐ Popularity Graph

0/100 long tail

Quick Facts

Instance of rare disease, class of disease

Subclass of multiple congenital anomalies/dysmorphic syndrome-intellectual disability, congenital hemolytic anemia, partial deletion of the long arm of chromosome X, X-linked intellectual disability, chromosomal deletion syndrome, syndrome, developmental defect during embryogenesis

Properties

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

Genetic association AMMECR1, KCNE5, ACSL4

External References (8)

Disease ontology id DOID:0111860

Icd-10-cm Q87.8

Mesh descriptor id C564570

Mondo id MONDO_0010263

Omim id 300194

Orphanet id 86818

Umls cui C1846242

Uniprot disease id DI-01183

References

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

Direct Wikidata claims

[2] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — instance of (P31): developmental defect during embryogenesis. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[3] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — instance of (P31): rare disease. wikidata.org.
[4] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — instance of (P31): class of disease. wikidata.org.
[5] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — subclass of (P279): multiple congenital anomalies/dysmorphic syndrome-intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — subclass of (P279): congenital hemolytic anemia. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — subclass of (P279): partial deletion of the long arm of chromosome X. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — subclass of (P279): X-linked intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — subclass of (P279): chromosomal deletion syndrome. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[10] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — subclass of (P279): syndrome. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[11] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — genetic association (P2293): AMMECR1. Q905695. Retrieved 2019-08-13. wikidata.org.
[12] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — genetic association (P2293): KCNE5. Q905695. Retrieved 2019-08-13. wikidata.org.
[13] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — genetic association (P2293): ACSL4. Q905695. Retrieved 2019-08-13. wikidata.org.
[14] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_86818. wikidata.org.
[15] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — exact match (P2888): http://purl.obolibrary.org/obo/DOID_0111860. Disease Ontology. Retrieved 2020-11-30. wikidata.org.
[16] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — exact match (P2888): http://identifiers.org/doid/DOID:0111860. Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.

Class ancestry

[1] ↑ Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 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). Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome

MLA

“Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome.

BibTeX

@misc{4ortxyz_alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome — https://4ort.xyz/entity/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-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.

5w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗

Mondo id → MONDO_0010263

Genetic association → AMMECR1, KCNE5, ACSL4

Orphanet id → 86818

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

+ 10 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"

Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.