loading...| Preferred Name |
Frasier syndrome |
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| Synonyms |
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|
| Definitions |
A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_347 |
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| definition |
A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 |
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| has_age_of_onset |
Adolescent Adult Childhood |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
MeSH:D052159 UMLS:C0950122 OMIM:136680 ICD-10:N04.1 ICD-11:LD2A.Y MedDRA:10080313 |
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| label |
Frasier syndrome |
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| notation |
ORPHA:347 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_325638 http://www.orpha.net/ORDO/Orphanet_183422 |
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| prefixIRI |
ORDO:Orphanet_347 |
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| prefLabel |
Frasier syndrome |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 150.0 (Case) |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_325638 http://www.orpha.net/ORDO/Orphanet_183422 |
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| subClassOf |