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