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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84666
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84666
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|---|---|
| Preferred Name | De Sanctis-Cacchione Syndrome |
| Definitions |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
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| Synonyms |
De Sanctis-Cacchione Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
De Sanctis-Cacchione Syndrome
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|---|---|
| Preferred_Name |
De Sanctis-Cacchione Syndrome
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C84666
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| DEFINITION |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
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| UMLS_CUI |
C0265201
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| code |
C84666
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| Related_To_Genetic_Biomarker | |
| subClassOf | |
| type | |
| FULL_SYN |
De Sanctis-Cacchione Syndrome
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| Contributing_Source |
Cellosaurus
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| Concept_In_Subset |
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