Preferred Name |
Frasier syndrome |
|
Synonyms |
Frasier syndrome |
|
Definitions |
Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007635 |
|
database_cross_reference |
UMLS:C0950122 Orphanet:347 SCTID:445431000 OMIM:136680 ICD10:N04.1 MESH:D052159 DOID:0050438 ICD9:759.89 GARD:0002375 NCIT:C122805 |
|
disease has basis in dysfunction of | ||
exactMatch |
http://identifiers.org/omim/136680 http://purl.obolibrary.org/obo/DOID_0050438 http://linkedlifedata.com/resource/umls/id/C0950122 http://www.orpha.net/ORDO/Orphanet_347 http://purl.obolibrary.org/obo/NCIT_C122805 |
|
has exact synonym |
Frasier syndrome |
|
id |
MONDO:0007635 |
|
imported from | ||
in_subset | ||
label |
Frasier syndrome |
|
notation |
MONDO:0007635 |
|
prefLabel |
Frasier syndrome |
|
see also |
https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome |
|
textual definition |
Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0020042 http://purl.obolibrary.org/obo/MONDO_0015945 |