ONTOLOGY REPORT - ANNOTATIONS
Term: Lymphangioleiomyomatosis
Accession: RDO:0007097
Definition: A disease characterized by the progressive invasion of SMOOTH MUSCLE CELLS into the LYMPHATIC VESSELS, and the BLOOD VESSELS. The majority of the cases occur in the LUNGS of women of child-bearing age, eventually blocking the flow of air, blood, and lymph. The common symptom is shortness of breath (DYSPNEA).
Synonyms: exact_synonym: LAM; Lymphangioleiomyomatoses; Lymphangiomyomatoses; Lymphangiomyomatosis primary_id: MESH:D018192 alt_id: OMIM:606690
Lymphangioleiomyomatosis
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Esr1 estrogen receptor 1
ISS 1
35,523,680
35,759,891
RGD:4892300 RGD
G
Mmp9 matrix metallopeptidase 9
ISS 3
155,985,473
155,993,433
RGD:5129697 RGD
G
Nos3 nitric oxide synthase 3, endothelial cell
ISS 4
6,158,847
6,179,441
RGD:4892080 RGD
G
Srf serum response factor (c-fos serum response element-binding transcription factor)
ISS 9
9,788,378
9,797,639
RGD:1580753 RGD
G
Stat1 signal transducer and activator of transcription 1
ISS 9
46,455,635
46,497,560
RGD:2298537 RGD
G
Stat3 signal transducer and activator of transcription 3 (acute-phase response factor)
ISS 10
89,821,078
89,872,970
RGD:2298537 RGD
G
Tsc1 tuberous sclerosis 1
ISS 3
7,645,313
7,672,944
RGD:7240710 OMIM
G
Tsc2 tuberous sclerosis 2
ISS 10
13,848,210
13,883,189
RGD:1580521 RGD
G
Tsc2 tuberous sclerosis 2
ISS 10
13,848,210
13,883,189
RGD:7240710 OMIM
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