loading...| Preferred Name |
Chediak-Higashi syndrome |
| Synonyms |
Chediak-Higashi syndrome Chédiak-Higashi syndrome Chédiak-Higashi-Steinbrink syndrome Chediak - Steinbrinck anomaly Chédiak-Higashi disease ChC)diak-Higashi disease Chediak Higashi syndrome CHS ChC)diak-Higashi-Steinbrink syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008963 |
| closeMatch | |
| database_cross_reference |
SCTID:111396008 MedDRA:10008415 Orphanet:167 NCIT:C2941 GARD:0006035 UMLS:C0007965 ICD10CM:E70.330 OMIM:214500 DOID:2935 MESH:D002609 ICD10CM:E70.3 |
| definition |
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. |
| exactMatch |
http://identifiers.org/mesh/D002609 http://purl.obolibrary.org/obo/DOID_2935 http://purl.obolibrary.org/obo/NCIT_C2941 http://purl.obolibrary.org/obo/Orphanet_167 http://purl.bioontology.org/ontology/ICD10CM/E70.330 |
| has_exact_synonym |
Chediak-Higashi syndrome Chédiak-Higashi-Steinbrink syndrome Chediak - Steinbrinck anomaly Chédiak-Higashi disease ChC)diak-Higashi disease CHS ChC)diak-Higashi-Steinbrink syndrome |
| has_related_synonym |
Chédiak-Higashi syndrome Chediak Higashi syndrome |
| id |
MONDO:0008963 |
| in_subset | |
| label |
Chediak-Higashi syndrome |
| notation |
MONDO:0008963 |
| prefLabel |
Chediak-Higashi syndrome |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015134 http://purl.obolibrary.org/obo/MONDO_0017305 http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0017739 http://purl.obolibrary.org/obo/MONDO_0020118 http://purl.obolibrary.org/obo/MONDO_0020127 http://purl.obolibrary.org/obo/MONDO_0002320 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015134 http://purl.obolibrary.org/obo/MONDO_0017305 http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0017739 http://purl.obolibrary.org/obo/MONDO_0020118 http://purl.obolibrary.org/obo/MONDO_0020127 http://purl.obolibrary.org/obo/MONDO_0002320 |