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loading...| Preferred Name |
De Sanctis-Cacchione Syndrome |
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| Synonyms |
De Sanctis-Cacchione Syndrome |
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| Definitions |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84666 |
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| code |
C84666 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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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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| FULL_SYN |
De Sanctis-Cacchione Syndrome |
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| label |
De Sanctis-Cacchione Syndrome |
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| Preferred_Name |
De Sanctis-Cacchione Syndrome |
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| prefixIRI |
Thesaurus:C84666 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265201 |
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| subClassOf |
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