Disease · MONDO_0008963

Chediak-Higashi syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Chediak-Higashi syndrome. Diseases, record MONDO_0008963. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008963

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: Chediak-Higashi syndrome; Open Targets
Open Targets ID: MONDO_0008963; Open Targets
Other names: CHS, ChC)diak-Higashi disease, ChC)diak-Higashi-Steinbrink syndrome, Chediak - Steinbrinck anomaly, Chédiak-Higashi disease, Chédiak-Higashi syndrome, Chédiak-Higashi-Steinbrink syndrome; Open Targets
Disease Ontology: DOID:2935; Disease Ontology
MeSH: D002609; MeSH
NCI Thesaurus: C2941; NCI Thesaurus
Orphanet: ORPHA:167; Orphanet
Highest stage of its drugs: Unknown, for 9 of its 9 drugs, from ClinicalTrials.gov; Open Targets

Drugs9

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	Source
ALEFACEPT	CHEMBL1201571	Protein	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	CHEMBL2108981		Unknown	ClinicalTrials.gov	1	1	0	Drugs and targets
BUSULFAN	CHEMBL820	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
CYCLOPHOSPHAMIDE	CHEMBL1200796	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
CYCLOSPORINE	CHEMBL160	Protein	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
ETOPOSIDE	CHEMBL44657	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
METHOTREXATE	CHEMBL34259	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
METHYLPREDNISOLONE	CHEMBL650	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets
PREDNISONE	CHEMBL635	Small molecule	Unknown	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets6

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
NR3C1	Glucocorticoid receptor	2	Glucocorticoid receptor agonist	Unknown	https://conductscience.org/library/genes/2908	Drugs and targets
CD2	T-cell surface antigen CD2	1	T-cell surface antigen CD2 inhibitor	Unknown	https://conductscience.org/library/genes/914	Drugs and targets
DHFR	Dihydrofolate reductase	1	Dihydrofolate reductase inhibitor	Unknown	https://conductscience.org/library/genes/1719	Drugs and targets
PPIA	Peptidyl-prolyl cis-trans isomerase A	1	Cyclophilin A modulator	Unknown	https://conductscience.org/library/genes/5478	Drugs and targets
TOP2A	DNA topoisomerase II	1	DNA topoisomerase II inhibitor	Unknown	https://conductscience.org/library/genes/7153	Drugs and targets
TOP2B	DNA topoisomerase II	1	DNA topoisomerase II inhibitor	Unknown	https://conductscience.org/library/genes/7155	Drugs and 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
NCT01319851	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation	Not applicable	3	2015-03-09	Thalassemia, Sickle Cell Disease, Glanzmann Thrombasthenia, Wiskott-Aldrich Syndrome, Chronic-granulomatous Disease, Severe Congenital Neutropenia, Leukocyte Adhesion Deficiency, Schwachman-Diamond Syndrome, Diamond-Blackfan Anemia, Fanconi Anemia, Dyskeratosis-congenita, Chediak-Higashi Syndrome, Severe Aplastic Anemia	ALEFACEPT	Its record names the disease	ClinicalTrials.gov
NCT00006054	Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies	Not applicable			Immunologic Deficiency Syndromes, Chediak-Higashi Syndrome, Common Variable Immunodeficiency, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, X-linked Agammaglobulinemia, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, X-linked Hyper IgM Syndrome, Severe Combined Immunodeficiency, Leukocyte Adhesion Deficiency Syndrome, Virus-Associated Hemophagocytic Syndrome	BUSULFAN, CYCLOPHOSPHAMIDE, CYCLOSPORINE, ETOPOSIDE, METHOTREXATE, METHYLPREDNISOLONE, PREDNISONE	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 trials1

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

PMID	Listed as	Trials listing it
26095669	DERIVED	1

Source PubMed

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_0008963

GET https://conductscience.org/api/diseases/v1/MONDO_0008963/drugs

API reference For AI assistants