loading...| Preferred Name |
Chediak-Higashi syndrome |
|
| Synonyms |
Chediak-Higashi syndrome ChC)diak-Higashi disease Chediak - Steinbrinck anomaly CHS ChC)diak-Higashi-Steinbrink syndrome Chédiak-Higashi disease Chédiak-Higashi-Steinbrink syndrome Chédiak-Higashi syndrome Chediak Higashi syndrome |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008963 |
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| has_exact_synonym |
Chediak-Higashi syndrome ChC)diak-Higashi disease Chediak - Steinbrinck anomaly CHS ChC)diak-Higashi-Steinbrink syndrome Chédiak-Higashi disease Chédiak-Higashi-Steinbrink syndrome |
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| has_related_synonym |
Chédiak-Higashi syndrome Chediak Higashi syndrome |
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| label |
Chediak-Higashi syndrome |
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| prefixIRI |
MONDO:0008963 |
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| prefLabel |
Chediak-Higashi syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome |
|
| textual 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. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0015541 http://purl.obolibrary.org/obo/MONDO_0017739 http://purl.obolibrary.org/obo/MONDO_0015134 http://purl.obolibrary.org/obo/MONDO_0017305 http://purl.obolibrary.org/obo/MONDO_0002320 http://purl.obolibrary.org/obo/MONDO_0004884 |