hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

human disease

MedicalCondition rare_disease Q55784623

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hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Summary

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare disease^[1].

Key Facts

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's instance of is recorded as rare disease^[2].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's instance of is recorded as class of disease^[3].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's subclass of is recorded as rare disease with odontological manifestation^[4].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's subclass of is recorded as autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature^[5].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's subclass of is recorded as genetic syndromic intellectual disability^[6].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's OMIM ID is recorded as 615328^[7].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's Orphanet ID is recorded as 363523^[8].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's genetic association is recorded as COG6^[9].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_363523^[10].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's UMLS CUI is recorded as C3809160^[11].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's ICD-10-CM is recorded as Q82.8^[12].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's Mondo ID is recorded as MONDO_0014131^[13].
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome's UniProt disease ID is recorded as DI-03822^[14].

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Quick Facts

Instance of rare disease, class of disease

Subclass of rare disease with odontological manifestation, autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature, genetic syndromic intellectual disability

Properties

Exact match www.orpha.net

Genetic association COG6

Imported from wholeness_audit_2026-05-02

External References (6)

Icd-10-cm Q82.8

Mondo id MONDO_0014131

Omim id 615328

Orphanet id 363523

Umls cui C3809160

Uniprot disease id DI-03822

References

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

Direct Wikidata claims

[2] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — instance of (P31): rare disease. wikidata.org.
[3] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — instance of (P31): class of disease. wikidata.org.
[4] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — subclass of (P279): rare disease with odontological manifestation. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[5] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — subclass of (P279): autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[6] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — subclass of (P279): genetic syndromic intellectual disability. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[7] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — OMIM ID (P492): 615328. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[8] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — Orphanet ID (P1550): 363523. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[9] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — genetic association (P2293): COG6. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. Retrieved 2023-08-24. platform.opentargets.org. Provenance: wikidata.org.
[10] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_363523. wikidata.org.
[11] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — UMLS CUI (P2892): C3809160. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[12] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — ICD-10-CM (P4229): Q82.8. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-28. wikidata.org.
[13] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — Mondo ID (P5270): MONDO_0014131. wikidata.org.
[14] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome — UniProt disease ID (P11430): DI-03822. wikidata.org.

Class ancestry

[1] ↑ hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is an instance of rare disease (Q929833) [P31, primary]. Wikidata. wikidata.org.

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APA

4ort.xyz Knowledge Graph. (2026). hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/hypohidrosis-enamel-hypoplasia-palmoplantar-keratoderma-intellectual-disability-syndrome

MLA

“hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hypohidrosis-enamel-hypoplasia-palmoplantar-keratoderma-intellectual-disability-syndrome.

BibTeX

@misc{4ortxyz_hypohidrosis-enamel-hypoplasia-palmoplantar-keratoderma-intellectual-disability-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/hypohidrosis-enamel-hypoplasia-palmoplantar-keratoderma-intellectual-disability-syndrome}, note = {Accessed: 2026-05-03}}

LLM prompt

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

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