loading...| Preferred Name |
dyskeratosis congenita |
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| Synonyms |
DKC Zinsser-Engman-Cole syndrome MONDO:DC dyskeratosis congenita Zinsser Cole Engman syndrome Hoyeraal-Hreidarsson syndrome |
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| Definitions |
Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015780 |
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| comment |
Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist |
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| has_exact_synonym |
DKC Zinsser-Engman-Cole syndrome MONDO:DC dyskeratosis congenita |
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| has_related_synonym |
Zinsser Cole Engman syndrome Hoyeraal-Hreidarsson syndrome |
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| label |
dyskeratosis congenita |
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| prefixIRI |
MONDO:0015780 |
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| prefLabel |
dyskeratosis congenita |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked |
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| textual definition |
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. |
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| subClassOf |