loading...| Preferred Name |
Hereditary leiomyomatosis and renal cell cancer |
|
| Synonyms |
Reed's syndrome Multiple cutaneous and uterine leiomyomatosis Leiomyoma, multiple cutaneous Multiple cutaneous and uterine leiomyomata 1 Cutaneous leiomyomata with uterine leiomyomata Leiomyoma, hereditary multiple, of skin Leiomyomatosis and renal cell cancer, hereditary |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535516 |
|
| altLabel |
Reed's syndrome Multiple cutaneous and uterine leiomyomatosis Leiomyoma, multiple cutaneous Multiple cutaneous and uterine leiomyomata 1 Cutaneous leiomyomata with uterine leiomyomata Leiomyoma, hereditary multiple, of skin Leiomyomatosis and renal cell cancer, hereditary |
|
| cui |
C1708350 |
|
| HM |
D012878 D014594 D018231 D009386 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D018231 http://purl.bioontology.org/ontology/MESH/D009386 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
173 |
|
| MMR |
20170419 |
|
| notation |
C535516 |
|
| prefLabel |
Hereditary leiomyomatosis and renal cell cancer |
|
| SC |
3 |
|
| Scope Statement |
A hereditary condition where patients present with cutaneous LEIOMYOMAS (female patients may also have uterine leiomyomas) and are at increased risk for developing KIDNEY NEOPLASMS. Tumors initally appear during adulthood on the skin of the torso, arms, legs, and face and increase in size and number over time; 10% to 16% of patients develop RENAL CELL CARCINOMA. A heterozygous germline mutation in the FH gene has been identified. OMIM: 150800 |
|
| TERMUI |
T736355 T736356 T736362 T741489 T741491 T736357 T736358 T736359 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T191 |