loading...| Preferred Name |
Frasier syndrome |
|
| Synonyms |
Frasier syndrome, autosomal dominant, somatic mutation Frasier syndrome |
|
| Definitions |
Frasier syndrome is characterized 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 |
ICD9:759.89 UMLS:C0950122 NCIT:C122805 DOID:0050438 OMIM:136680 Orphanet:347 MESH:D052159 SCTID:445431000 GARD:2375 |
|
| definition |
Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0050438 http://purl.obolibrary.org/obo/Orphanet_347 http://linkedlifedata.com/resource/umls/id/C0950122 http://purl.obolibrary.org/obo/NCIT_C122805 |
|
| has_exact_synonym |
Frasier syndrome, autosomal dominant, somatic mutation Frasier syndrome |
|
| IAO_0000233 | ||
| id |
MONDO:0007635 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Frasier syndrome |
|
| notation |
MONDO:0007635 |
|
| prefLabel |
Frasier syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020040 |