Preferred Name |
de Sanctis-Cacchione syndrome |
|
Synonyms |
xerodermic idiocy de Sanctis-Cacchione syndrome 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 |
|
database_cross_reference |
ICD9:759.89 Orphanet:1569 DOID:0112158 UMLS:C0265201 SCTID:414673004 MESH:C535992 OMIM:278800 NCIT:C84666 GARD:8276 NORD:1035 |
|
definition |
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. |
|
exactMatch |
http://identifiers.org/mesh/C535992 http://purl.obolibrary.org/obo/NCIT_C84666 http://purl.obolibrary.org/obo/DOID_0112158 |
|
has_exact_synonym |
de Sanctis-Cacchione syndrome De Sanctis Cacchione Syndrome |
|
has_related_synonym |
xerodermic idiocy |
|
id |
MONDO:0010217 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
label |
de Sanctis-Cacchione syndrome |
|
notation |
MONDO:0010217 |
|
preferred label |
de Sanctis-Cacchione syndrome |
|
prefLabel |
de Sanctis-Cacchione syndrome |
|
see also |
https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome |
|
subClassOf |