loading...| 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 |
|
| database_cross_reference |
NCIT:C84666 SCTID:414673004 OMIM:278800 Orphanet:1569 MESH:C535992 UMLS:C0265201 ICD9:759.89 DOID:0112158 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 |
|
| has_related_synonym |
xerodermic idiocy |
|
| id |
MONDO:0010217 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare |
|
| 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 |