congenital cataracts, facial dysmorphism, and neuropathy

disease

MedicalCondition rare_disease Q2941671

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congenital cataracts, facial dysmorphism, and neuropathy

Summary

congenital cataracts, facial dysmorphism, and neuropathy is a rare disease^[1].

Key Facts

congenital cataracts, facial dysmorphism, and neuropathy's instance of is recorded as rare disease^[2].
congenital cataracts, facial dysmorphism, and neuropathy's instance of is recorded as class of disease^[3].
congenital cataracts, facial dysmorphism, and neuropathy's subclass of is recorded as congenital cataract^[4].
congenital cataracts, facial dysmorphism, and neuropathy's subclass of is recorded as craniofacial abnormality^[5].
congenital cataracts, facial dysmorphism, and neuropathy's subclass of is recorded as autosomal recessive degenerative and progressive cerebellar ataxia^[6].
congenital cataracts, facial dysmorphism, and neuropathy's subclass of is recorded as eyelid degenerative disease^[7].
congenital cataracts, facial dysmorphism, and neuropathy's MeSH descriptor ID is recorded as C565822^[8].
congenital cataracts, facial dysmorphism, and neuropathy's OMIM ID is recorded as 604168^[9].
congenital cataracts, facial dysmorphism, and neuropathy's ICD-10 ID is recorded as Q87.8^[10].
congenital cataracts, facial dysmorphism, and neuropathy's KEGG ID is recorded as H01220^[11].
congenital cataracts, facial dysmorphism, and neuropathy's Orphanet ID is recorded as 48431^[12].
congenital cataracts, facial dysmorphism, and neuropathy's ICD-9-CM is recorded as 759.89^[13].
congenital cataracts, facial dysmorphism, and neuropathy's health specialty is recorded as medical genetics^[14].
congenital cataracts, facial dysmorphism, and neuropathy's genetic association is recorded as CTDP1^[15].
congenital cataracts, facial dysmorphism, and neuropathy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_48431^[16].
congenital cataracts, facial dysmorphism, and neuropathy's UMLS CUI is recorded as C1858726^[17].
congenital cataracts, facial dysmorphism, and neuropathy's ICD-10-CM is recorded as Q87.8^[18].
congenital cataracts, facial dysmorphism, and neuropathy's Mondo ID is recorded as MONDO_0011402^[19].
congenital cataracts, facial dysmorphism, and neuropathy's UniProt disease ID is recorded as DI-01390^[20].

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Quick Facts

Instance of rare disease, class of disease

Subclass of congenital cataract, craniofacial abnormality, autosomal recessive degenerative and progressive cerebellar ataxia, eyelid degenerative disease

Properties

Exact match www.orpha.net

Genetic association CTDP1

Health specialty medical genetics

Icd-9-cm 759.89

Imported from wholeness_audit_2026-05-02

External References (9)

Icd-10 id Q87.8

Icd-10-cm Q87.8

Kegg id H01220

Mesh descriptor id C565822

Mondo id MONDO_0011402

Omim id 604168

Orphanet id 48431

Umls cui C1858726

Uniprot disease id DI-01390

🌐 Available in 3 languages

deCCFDN-Syndrom frCataracte congénitale avec dysmorphie faciale et neuropathie plZespół wrodzonej zaćmy, dysmorfii twarzy i neuropatii

References

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

Direct Wikidata claims

[2] ↑ congenital cataracts, facial dysmorphism, and neuropathy — instance of (P31): rare disease. wikidata.org.
[3] ↑ congenital cataracts, facial dysmorphism, and neuropathy — instance of (P31): class of disease. wikidata.org.
[4] ↑ congenital cataracts, facial dysmorphism, and neuropathy — subclass of (P279): congenital cataract. wikidata.org.
[5] ↑ congenital cataracts, facial dysmorphism, and neuropathy — subclass of (P279): craniofacial abnormality. wikidata.org.
[6] ↑ congenital cataracts, facial dysmorphism, and neuropathy — subclass of (P279): autosomal recessive degenerative and progressive cerebellar ataxia. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[7] ↑ congenital cataracts, facial dysmorphism, and neuropathy — subclass of (P279): eyelid degenerative disease. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[8] ↑ congenital cataracts, facial dysmorphism, and neuropathy — MeSH descriptor ID (P486): C565822. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[9] ↑ congenital cataracts, facial dysmorphism, and neuropathy — OMIM ID (P492): 604168. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[10] ↑ congenital cataracts, facial dysmorphism, and neuropathy — ICD-10 ID (P494): Q87.8. wikidata.org.
[11] ↑ congenital cataracts, facial dysmorphism, and neuropathy — KEGG ID (P665): H01220. wikidata.org.
[12] ↑ congenital cataracts, facial dysmorphism, and neuropathy — Orphanet ID (P1550): 48431. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[13] ↑ congenital cataracts, facial dysmorphism, and neuropathy — ICD-9-CM (P1692): 759.89. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[14] ↑ congenital cataracts, facial dysmorphism, and neuropathy — health specialty (P1995): medical genetics. wikidata.org.
[15] ↑ congenital cataracts, facial dysmorphism, and neuropathy — genetic association (P2293): CTDP1. Q905695. Retrieved 2019-08-13. wikidata.org.
[16] ↑ congenital cataracts, facial dysmorphism, and neuropathy — exact match (P2888): http://www.orpha.net/ORDO/Orphanet_48431. wikidata.org.
[17] ↑ congenital cataracts, facial dysmorphism, and neuropathy — UMLS CUI (P2892): C1858726. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[18] ↑ congenital cataracts, facial dysmorphism, and neuropathy — ICD-10-CM (P4229): Q87.8. Monarch Disease Ontology release 2018-06-29. Retrieved 2018-07-03. wikidata.org.
[19] ↑ congenital cataracts, facial dysmorphism, and neuropathy — Mondo ID (P5270): MONDO_0011402. wikidata.org.
[20] ↑ congenital cataracts, facial dysmorphism, and neuropathy — UniProt disease ID (P11430): DI-01390. wikidata.org.

Class ancestry

[1] ↑ congenital cataracts, facial dysmorphism, and neuropathy is an instance of rare disease (Q929833) [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). congenital cataracts, facial dysmorphism, and neuropathy. Retrieved May 3, 2026, from https://4ort.xyz/entity/congenital-cataracts-facial-dysmorphism-and-neuropathy

MLA

“congenital cataracts, facial dysmorphism, and neuropathy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/congenital-cataracts-facial-dysmorphism-and-neuropathy.

BibTeX

@misc{4ortxyz_congenital-cataracts-facial-dysmorphism-and-neuropathy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{congenital cataracts, facial dysmorphism, and neuropathy}}, year = {2026}, url = {https://4ort.xyz/entity/congenital-cataracts-facial-dysmorphism-and-neuropathy}, note = {Accessed: 2026-05-03}}

LLM prompt

According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): congenital cataracts, facial dysmorphism, and neuropathy — https://4ort.xyz/entity/congenital-cataracts-facial-dysmorphism-and-neuropathy (retrieved 2026-05-03)

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