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loading...| Preferred Name |
De Sanctis-Cacchione syndrome |
| Synonyms |
xeroderma pigmentosum with neurologic manifestation |
| Definitions |
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. |
| ID |
http://purl.obolibrary.org/obo/DOID_0112158 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:254201008 MESH:C535992 ORDO:1569 GARD:8276 OMIM:278800 NCI:C84666 UMLS_CUI:C0265201 |
| definition |
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. |
| has exact synonym |
xeroderma pigmentosum with neurologic manifestation |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0112158 |
| in_subset | |
| label |
De Sanctis-Cacchione syndrome |
| notation |
DOID:0112158 |
| prefLabel |
De Sanctis-Cacchione syndrome |
| subClassOf |
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