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Mondo Disease Ontology
| Preferred Name | hereditary leiomyomatosis and renal cell cancer | |
| Synonyms |
LRCC multiple cutaneous leiomyomata Reed's syndrome leiomyomatosis and renal cell cancer, hereditary leiomyoma, multiple cutaneous multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma multiple cutaneous and uterine leiomyomata leiomyomatosis familial Hereditary Leiomyomatosis and Renal Cell Carcinoma familial leiomyomatosis with renal carcinoma familial leiomyomatosis cutis et uteri leiomyomatosis and renal cell cancer HLRCC Reed syndrome hereditary leiomyomatosis hereditary leiomyomatosis and renal cell carcinoma familial leiomyomatosis hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis and renal cell cancer MCUL familial multiple cutaneous leiomyomas hereditary multiple cutaneous leiomyomas hereditary leiomyomatosis with renal carcinoma familial leiomyomatosis and renal cell cancer multiple cutaneous and uterine leiomyomas |
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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://purl.obolibrary.org/obo/MONDO_0007888 |
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| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007888 |
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| database_cross_reference |
NCIT:C51302 icd11.foundation:754002573 NORD:1231 Orphanet:523 MESH:C535516 GARD:10096 OMIM:150800 MEDGEN:353771 UMLS:C1708350
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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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| has_exact_synonym |
Hereditary Leiomyomatosis and Renal Cell Carcinoma familial leiomyomatosis with renal carcinoma familial leiomyomatosis cutis et uteri leiomyomatosis and renal cell cancer HLRCC Reed syndrome hereditary leiomyomatosis hereditary leiomyomatosis and renal cell carcinoma familial leiomyomatosis hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis and renal cell cancer MCUL familial multiple cutaneous leiomyomas hereditary multiple cutaneous leiomyomas hereditary leiomyomatosis with renal carcinoma familial leiomyomatosis and renal cell cancer multiple cutaneous and uterine leiomyomas
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| has_related_synonym |
LRCC multiple cutaneous leiomyomata Reed's syndrome leiomyomatosis and renal cell cancer, hereditary leiomyoma, multiple cutaneous multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma multiple cutaneous and uterine leiomyomata leiomyomatosis familial
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| IAO_0000233 | ||
| id |
MONDO:0007888
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
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| label |
hereditary leiomyomatosis and renal cell cancer
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| notation |
MONDO:0007888
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| prefLabel |
hereditary leiomyomatosis and renal cell cancer
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_523 http://identifiers.org/medgen/353771 http://identifiers.org/mesh/C535516 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/754002573 http://linkedlifedata.com/resource/umls/id/C1708350 |
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