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 |
|
| alternative label |
xeroderma pigmentosum with neurologic manifestation |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:254201008 MESH:C535992 UMLS_CUI:C0265201 OMIM:278800 GARD:8276 NCI:C84666 ORDO:1569 |
|
| 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 |
|
| note |
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. |
|
| preferred label |
De Sanctis-Cacchione syndrome |
|
| prefLabel |
De Sanctis-Cacchione syndrome |
|
| textual definition |
A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. |
|
| subClassOf |