Preferred Name |
de Sanctis-Cacchione syndrome |
|
Synonyms |
xerodermic idiocy de Sanctis-Cacchione syndrome |
|
Definitions |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0010217 |
|
altLabel |
xerodermic idiocy de Sanctis-Cacchione syndrome |
|
definition |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. |
|
has_exact_synonym |
de Sanctis-Cacchione syndrome |
|
has_related_synonym |
xerodermic idiocy |
|
label |
de Sanctis-Cacchione syndrome |
|
prefixIRI |
MONDO:0010217 |
|
prefLabel |
de Sanctis-Cacchione syndrome |
|
seeAlso |
https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome |
|
textual definition |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. |
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subClassOf |