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Orphanet Rare Disease Ontology
| Preferred Name | Hereditary leiomyomatosis and renal cell cancer | |
| Synonyms |
Familial leiomyomatosis cutis et uteri Reed syndrome Hereditary multiple cutaneous leiomyomas HLRCC Hereditary leiomyomatosis Hereditary leiomyomatosis with renal carcinoma MCUL Multiple cutaneous and uterine leiomyomas Familial multiple cutaneous leiomyomas Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis with renal carcinoma |
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| Definitions |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_523 |
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| alternative_term |
Familial leiomyomatosis cutis et uteri Reed syndrome Hereditary multiple cutaneous leiomyomas HLRCC Hereditary leiomyomatosis Hereditary leiomyomatosis with renal carcinoma MCUL Multiple cutaneous and uterine leiomyomas Familial multiple cutaneous leiomyomas Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis with renal carcinoma
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|
| definition |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
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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=523 |
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| has_age_of_onset |
Adolescent Adult Elderly
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| has_inheritance |
Autosomal dominant
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| hasDbXref |
OMIM:150800 UMLS:C1708350 ICD-11:2C90.Y MeSH:C535516 ICD-10:C64
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| label |
Hereditary leiomyomatosis and renal cell cancer
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|
| notation |
ORPHA:523
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| part_of |
http://www.orpha.net/ORDO/Orphanet_79386 http://www.orpha.net/ORDO/Orphanet_183487 |
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| prefixIRI |
ORDO:Orphanet_523
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|
| prefLabel |
Hereditary leiomyomatosis and renal cell cancer
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|
| present_in |
Worldwide AND has_cases/families_value : 200.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79386 http://www.orpha.net/ORDO/Orphanet_183487 |
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| subClassOf |
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