loading...| Preferred Name |
Chediak-Higashi Syndrome |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037483 |
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| Database_Cross_Reference |
CSP:1849-1918 ICD10CM:D72.0 SNOMEDCT_US:111396008 SNM:M-78030 MTH:NOCODE SNOMEDCT_US:191356000 DO:DOID:2935 OMIM:214500 NDFRT:N0000000743 RCD:X20Dv MTHICD9:288.2 SNOMEDCT_US:123309000 SNM:M-78020 SNMI:D6-A2430 MSH:D002609 CHV:0000002726 SNOMEDCT_US:190696004 NCI:C2941 MEDCIN:30413 DXP:U000323 ICD10CM:E70.330 MEDCIN:273750 DXP:NOCODE SNM:D-3746 MDR:10008415 MDR:10004202 |
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| Definition |
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. |
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| label |
Chediak-Higashi Syndrome |
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| MCID |
MC00002590 |
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| PMOID |
PMO:00037483 |
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| prefixIRI |
pmo:PMO_00037483 |
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| prefLabel |
Chediak-Higashi Syndrome |
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| Synonym |
Chediak-Steinbrinck-Higashi Syndrome Chediak-Higashi syndrome -RETIRED- chediak-higashi syndrome chediak higashi anomaly Granulocyte anomaly or syndrome, Chediak-Steinbrinck-Higashi Chediak anomaly Chediak-Higashi syndrome Chediak-Higashi disease Chediak - Steinbrinck anomaly Granulation anomaly of leukocytes Chediak-Higashi syndrome (disorder) Anomaly or syndrome, Chediak-Steinbrinck Chédiak-Higashi syndrome Granulation anomaly of leucocytes Congenital gigantism of peroxidase granules Hereditary leukomelanopathy Leukocyte granulation anomaly Chediak-Higashi anomaly Chediak Higashi Syndrome Syndrome, Chediak-Higashi Chédiak-Steinbrinck anomaly chediak higashi syndrome hereditary leukomelanopathy (diagnosis) Granulocyte anomaly or syndrome, Chediak-Steinbrinck Chediak-Steinbrinck-Higashi sy Anomaly or syndrome, Chediak-Steinbrinck-Higashi Chédiak anomaly Béguez César disease Steinbrinck anomaly BEGUEZ CESAR DISEASE Granulation anomaly or syndrome, Chediak-Steinbrinck-Higashi Chédiak-Higashi syndrome (disorder) Granulation anomaly or syndrome, Chediak-Steinbrinck CHS Chediak-Steinbrinck anomaly Hereditary gigantism of cytoplasmic organelles Chediak-Higashi disease (diagnosis) hereditary leukomelanopathy Oculocutaneous Albinism with Leukocyte Defect Chediak Higashi syndrome Beguez Cesar disease Chediak-Higashi Syndrome [Disease/Finding] Begnez Cesar disease Oculocutaneous albinism with leukocyte defect Chediak-Steinbrinck-Higashi syndrome CHEDIAK-HIGASHI SYNDROME Chediak Higashi anomaly |
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| Tree Number |
T9.5.2.1.7.2 T9.23.5.10.2 |
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| subClassOf |