Disease · MONDO_0019172

aniridia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. aniridia. Diseases, record MONDO_0019172. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0019172

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: aniridia; Open Targets
Open Targets ID: MONDO_0019172; Open Targets
Other names: Absent iris, aplasia of iris; Open Targets
Disease Ontology: DOID:12271; Disease Ontology
MeSH: D015783; MeSH
NCI Thesaurus: C84563; NCI Thesaurus
Orphanet: ORPHA:77; Orphanet
Highest stage of its drugs: Phase 2, for its one drug, from ClinicalTrials.gov; Open Targets

Drugs1

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here
ATALUREN	CHEMBL256997	Small molecule	Phase 2	ClinicalTrials.gov	3	2	2

Source Drugs and targets

Targets78

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
FAU	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/2197	Drugs and targets
RPL10	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6134	Drugs and targets
RPL10A	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/4736	Drugs and targets
RPL11	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6135	Drugs and targets
RPL12	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6136	Drugs and targets
RPL13	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6137	Drugs and targets
RPL13A	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/23521	Drugs and targets
RPL14	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/9045	Drugs and targets
RPL15	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6138	Drugs and targets
RPL17	80S Ribosome	1	80S Ribosome modulator	Phase 2	https://conductscience.org/library/genes/6139	Drugs and targets

1 to 10 of 78

See all 78 targets

Trials2

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02647359	Study of Ataluren in Participants With Nonsense Mutation Aniridia	Phase 2	39	2022-05-27	Aniridia	ATALUREN	Its record names the disease	ClinicalTrials.gov
NCT04117880	A Phase 2 Open Label Extension Study in Participants With Nonsense Mutation Aniridia	Phase 2	0		Aniridia	ATALUREN	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

None in this release.

Papers from its trials0

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

None in this release.

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0019172

GET https://conductscience.org/api/diseases/v1/MONDO_0019172/targets?page=2

API reference For AI assistants