loading...| Preferred Name |
neurocutaneous syndrome |
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| Synonyms |
neurocutaneous syndrome neurocutaneous disorder neuroectodermal dysplasia phakomatosis Phacomatosis Phakomatoses neurocutaneous disorders neuroectodermal dysplasia syndrome neuroectodermal dysplasia syndromes syndrome, neurocutaneous syndromes, neuroectodermal dysplasia Phacomatoses syndromes, neurocutaneous syndrome, neuroectodermal dysplasia |
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| Definitions |
A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0042983 |
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| comment |
A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category |
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| database_cross_reference |
UMLS:C0265316 MESH:D020752 NCIT:C84348 SCTID:78572006 |
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| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C84348 http://linkedlifedata.com/resource/umls/id/C0265316 |
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| fromPubMed |
true |
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| has exact synonym |
neurocutaneous syndrome |
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| hasDbXRef | ||
| id |
MONDO:0042983 |
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| imported from | ||
| label |
neurocutaneous syndrome |
|
| notation |
MONDO:0042983 |
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| oboInOwl:hasRelatedSynonym |
neurocutaneous disorder neuroectodermal dysplasia phakomatosis Phacomatosis Phakomatoses neurocutaneous disorders neuroectodermal dysplasia syndrome neuroectodermal dysplasia syndromes syndrome, neurocutaneous syndromes, neuroectodermal dysplasia Phacomatoses syndromes, neurocutaneous syndrome, neuroectodermal dysplasia |
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| prefLabel |
neurocutaneous syndrome |
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| 文本定义 |
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. |
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| excluded subClassOf | ||
| subClassOf |