congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

human disease

MedicalCondition rare_disease Q55784327

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congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Summary

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is a rare disease^[1].

Key Facts

congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's instance of is recorded as rare disease^[2].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's instance of is recorded as class of disease^[3].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's subclass of is recorded as disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement^[4].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's subclass of is recorded as autosomal ichthyosis syndrome with prominent neurological signs^[5].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's subclass of is recorded as rare dyslipidemia^[6].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's subclass of is recorded as neurometabolic disease^[7].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's OMIM ID is recorded as 614457^[8].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's Orphanet ID is recorded as 352333^[9].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's genetic association is recorded as ELOVL4^[10].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_352333^[11].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's UMLS CUI is recorded as C3280856^[12].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's ICD-10-CM is recorded as Q80.8^[13].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's Mondo ID is recorded as MONDO_0013760^[14].
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome's UniProt disease ID is recorded as DI-03376^[15].

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Quick Facts

Instance of rare disease, class of disease

Subclass of disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement, autosomal ichthyosis syndrome with prominent neurological signs, rare dyslipidemia, neurometabolic disease

Properties

Exact match www.orpha.net

Genetic association ELOVL4

Imported from wholeness_audit_2026-05-02

External References (6)

Icd-10-cm Q80.8

Mondo id MONDO_0013760

Omim id 614457

Orphanet id 352333

Umls cui C3280856

Uniprot disease id DI-03376

References

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

Direct Wikidata claims

[2] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — instance of (P31): rare disease. wikidata.org.
[3] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — instance of (P31): class of disease. wikidata.org.
[4] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — subclass of (P279): disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — subclass of (P279): autosomal ichthyosis syndrome with prominent neurological signs. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — subclass of (P279): rare dyslipidemia. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — subclass of (P279): neurometabolic disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — OMIM ID (P492): 614457. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — Orphanet ID (P1550): 352333. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[10] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — genetic association (P2293): ELOVL4. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[11] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_352333. wikidata.org.
[12] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — UMLS CUI (P2892): C3280856. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[13] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — ICD-10-CM (P4229): Q80.8. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[14] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — Mondo ID (P5270): MONDO_0013760. wikidata.org.
[15] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome — UniProt disease ID (P11430): DI-03376. wikidata.org.

Class ancestry

[1] ↑ congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

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APA

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BibTeX

@misc{4ortxyz_congenital-ichthyosis-intellectual-disability-spastic-quadriplegia-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-ichthyosis-intellectual-disability-spastic-quadriplegia-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

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