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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Id | http://identifiers.org/omim/278800
http://identifiers.org/omim/278800
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|---|---|
| Preferred Name | De Sanctis-Cacchione syndrome |
| Definitions |
(DSC) - An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.
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| Synonyms |
DSC
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (DSC) - An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. |
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| altLabel |
DSC
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| prefLabel |
De Sanctis-Cacchione syndrome
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| notation |
OMIM:278800
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| id |
OMIM:278800
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| subClassOf | |
| type |
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