Mondo Description ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.
Uniprot Description A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).
Disease Ontology Description An autosomal recessive disease characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has material basis in mutations in the CHS1 gene.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:2935
GARD:0006035
ICD10:E70.330
MESH:D002609
NCIT:C2941
OMIM:214500
Orphanet:167
SCTID:111396008
UMLS:C0007965
MONDO:0008963
High level summary of knowledge for a disease, including descriptions and datasource references.