loading...| Preferred Name |
Dyskeratosis Congenita |
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| Synonyms |
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| Definitions |
A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036614 |
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| Database_Cross_Reference |
SNMI:D4-40140 MTH:NOCODE DO:DOID:2729 JABL:722 MDR:10062759 NDFRT:N0000003963 SNM:D-5404 MSH:D019871 SNM:M-72620 RCD:X20Di NCI:C111802 SNOMEDCT_US:74911008 PDQ:CDR0000285967 CHV:0000025969 |
|
| Definition |
A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. |
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| label |
Dyskeratosis Congenita |
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| MCID |
MC00090689 |
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| PMOID |
PMO:00036614 |
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| prefixIRI |
pmo:PMO_00036614 |
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| prefLabel |
Dyskeratosis Congenita |
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| Synonym |
Zinsser-Cole-Engman syndrome Dyskeratosis congenita congenital dyskeratosis dyskeratosis congenita syndrome DKC Zinsser-Engman-Cole Syndrome Dyskeratosis congenita (disorder) Cole syndrome zinsser-cole-engman syndrome Cole-Engmann-Zinsser syndrome Engman syndrome dyskeratosis congenital Dyskeratosis congenita syndrome Zinsser syndrome DKC - Dyskeratosis congenita Zinsser-Engman-Cole syndrome Zinsser-Cole-Engmann syndrome Dyskeratosis Congenita [Disease/Finding] Congenital dyskeratosis dyskeratosis congenita (DC, DKC) congenita dyskeratosis dyskeratosis congenita Cole-Rauschkolb-Toomey syndrome |
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| Tree Number |
T9.8.4.1.32 T9.14.1.5.15 T9.14.1.1.32 T9.8.3.4.15 T9.8.4.41.24 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036611 http://www.phoc.org.cn/pmo/class/PMO_00036738 |