Search Ontology:
Human Disease
De Sanctis-Cacchione syndrome
- Term ID
- DOID:0112158
- Synonyms
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- xeroderma pigmentosum with neurologic manifestation
- Definition
- A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (3)
- References
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- GARD:8276
- MESH:C535992
- MIM:278800
- NCI:C84666
- ORDO:1569
- SNOMEDCT_US_2023_03_01:254201008
- UMLS_CUI:C0265201
- Ontology
- Human Disease ( DOID:0112158 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models