OBO ID: DOID:0112158
Term Name: De Sanctis-Cacchione syndrome Search Ontology:
Synonyms:
  • xeroderma pigmentosum with neurologic manifestation
Definition: A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (3)
References:
Ontology: Human Disease   ( DOID:0112158 )
Relationships
is a type of:
OTHER De Sanctis-Cacchione syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERCC6 ?De Sanctis-Cacchione syndrome 278800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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