Phenotypes for disease #01331 (BHDS (Birt-Hogg-Dube syndrome (BHDS, multiple fibrofolliculomas)), OMIM:135150)

546 entries on 6 pages. Showing entries 1 - 100.
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Individual ID     
0000034757 Birt-Hogg-Syndrom - - Unknown - - - - - Johan den Dunnen 00035860
0000034758 Birt-Hogg-Dube-Syndrom; pneumothorax (2x), multiple fibrofolliculomas - - Unknown - - - - - Johan den Dunnen 00035846
0000034759 Birt-Hogg-Dube-Syndrome - - Unknown - - - - - Johan den Dunnen 00035858
0000034760 Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma - - Familial - - - - - Johan den Dunnen 00035859
0000034761 Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma - - Familial - - - - - Johan den Dunnen 00035856
0000085719 pulmonary cysts, pneumothorax, thyroid cancer - - Familial, autosomal dominant 57y - - - - Mitsuko Furuya 00107982
0000085720 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00107983
0000085721 lung cysts, pneumothorax, skin tumor; BHD (lung cysts, pneumothorax) - - Familial, autosomal dominant 33y - - - - Mitsuko Furuya 00108005
0000085722 Multiple lung cysts, recurrent spontaneous pneumothorax, family history of recurrent spontaneous pneumothorax (mother) and clear cell RCC (maternal grandmother); Birt-Hogg-Dube - - Familial, autosomal dominant 32y - - - - Todd Kolb 00108009
0000085723 Mainly lung cysts. One affected family member with pneumothorax. - - Familial, autosomal dominant - - - - - Johan den Dunnen 00108013
0000085724 - - - Familial, autosomal dominant - - - - - Johan den Dunnen 00108014
0000085725 Spontaneous Pneumothorax Multiple pulmonary cysts - - Familial, autosomal dominant 31y - - - - Mitsuko Furuya 00108047
0000085727 - - - Familial, autosomal dominant - - - - - Danielle Stevenson 00108054
0000085728 pulmonary cysts, pneumothorax - - Familial, autosomal dominant 40y - - - - Mitsuko Furuya 00108068
0000085729 Clear-cell renal carcinoma, lung bullae, skin papules - - Familial, autosomal dominant 67y - - - - Kenan Gong 00108069
0000085731 - - - Isolated (sporadic) - - - - - Myrovlytis Trust 00108011
0000085732 see paper; ..., history of hypertension, presented with multiple asymptomatic bumps on face (progressively over time, denied personal or family history of similar lesions, renal cell carcinoma, spontaneous pneumothorax, other pulmonary disease; physical examination revealed diffuse flesh-colored, dome-shaped and pedunculated papules on face, neck, upper back, chest, arms, and axillary folds; histopathologic analysis of biopsy specimens from left jawline and left forearm consistent with fibrofolliculoma and trichodiscoma - - Unknown 53y - - - - Johan den Dunnen 00108079
0000085734 Deletion of 18 bp in exon 5 (c.332_349del); BHD (renal tumor/lung cysts) - - Unknown - - - - - Mitsuko Furuya 00107996
0000085750 pulmonary cysts, pneumothorax, fibrofolliculoma - - Unknown - - - - - Mitsuko Furuya 00108125
0000085751 fibrofolliculoma, 2 lung cysts, hypothyroidism - - Unknown - - - - - Johan den Dunnen 00107974
0000085752 PatG10 fibrofolliculomas, bilateral multifocal kidney (chromophobe); PatG11 fibrofolliculomas, lung cysts, bilateral multifocal kidney, papillary thyroid cancer - - Unknown - - - - - Johan den Dunnen 00108064
0000085753 PatB2 fibrofolliculomas; PatB3 fibrofolliculomas - - Unknown - - - - - Johan den Dunnen 00108026
0000085754 PatD5 fibrofolliculomas, lung cysts, benign solitary thyroid nodule; PatD6 fibrofolliculomas, lung cysts - - Familial, autosomal dominant - - - - - Johan den Dunnen 00108128
0000085755 PatE7 fibrofolliculomas, lung cysts; PatE8 fibrofolliculomas, lung cysts - - Familial, autosomal dominant - - - - - Johan den Dunnen 00108129
0000085756 fibrofolliculomas, lung cysts, 3 pneumothorax, hypothyroidism - - Familial, autosomal dominant - - - - - Johan den Dunnen 00108130
0000085757 perifollicular fibroma, bilateral multifocal kidney (chromophobe) - - Unknown - - - - - Johan den Dunnen 00107968
0000123991 fibrofolliculomas, renal cysts - - Isolated (sporadic) - - - - - Michel van Geel 00151623
0000123992 fibrofolliculomas, pneumothorax, lung cysts - - Familial, autosomal dominant - - - - - Michel van Geel 00151624
0000123993 fibrofolliculomas, lung cysts - - Familial, autosomal dominant - - - - - Michel van Geel 00151625
0000123994 fibrofolliculomas - - Isolated (sporadic) - - - - - Michel van Geel 00151626
0000123995 fibrofolliculomas, lung cysts - - Familial, autosomal dominant - - - - - Michel van Geel 00151627
0000123996 fibrofolliculomas, lung cysts, renal cysts - - Familial, autosomal dominant - - - - - Michel van Geel 00151628
0000123997 fibrofolliculomas - - Familial, autosomal dominant - - - - - Michel van Geel 00151629
0000124149 fibrofolliculomas, lung cysts - - Familial, autosomal dominant - - - - - Michel van Geel 00151781
0000124151 fibrofolliculomas, lung cysts, renal cysts - - Isolated (sporadic) - - - - - Michel van Geel 00151783
0000124152 fibrofolliculomas - - Unknown - - - - - Michel van Geel 00151784
0000124153 fibrofolliculomas, lung cysts, renal cysts - - Familial, autosomal dominant - - - - - Michel van Geel 00151785
0000124154 fibrofolliculomas, lung cysts, renal cysts - - Unknown - - - - - Michel van Geel 00151786
0000124155 fibrofolliculomas, lung cysts - - Unknown - - - - - Michel van Geel 00151787
0000124156 fibrofolliculomas, lung cysts, renal cysts - - Unknown - - - - - Michel van Geel 00151788
0000124158 fibrofolliculomas - - Familial, autosomal dominant - - - - - Michel van Geel 00151790
0000124159 fibrofolliculomas, lung cysts, renal cysts, renal tumour - - Familial, autosomal dominant - - - - - Michel van Geel 00151791
0000252622 fibrofolliculomas - - Unknown - - - - - Derek Lim 00334799
0000254822 Pneumothorax - - Unknown - - - - - Kenki Matsumoto 00359569
0000254826 3/10 pneumothorax, 1/10 RCC - - Unknown - - - - - Derek Lim 00286163
0000254827 Pneumothorax - - Unknown - - - - - Kenki Matsumoto 00359573
0000254828 Pneumothorax - - Unknown - - - - - Kenki Matsumoto 00107980
0000254830 lung cysts, fibrofolliculoma - - Unknown - - - - - Kenki Matsumoto 00359575
0000254832 Fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359577
0000254834 Lung cysts Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00276358
0000254835 Pneumothorax, lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Familial, autosomal dominant - - - - - Derek Lim 00107983
0000254837 13/32 had pneumothoraces, 28/28 had lung cysts, 1/31 had RCC, 18/34 had fibrofolliculomas Birt Hogg Dube BHDS Unknown - - - - - Derek Lim 00286930
0000254838 Pneumothorax, RCC Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359579
0000254839 Pneumothorax, lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359580
0000254840 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359581
0000254841 Pneumothorax, Lung cysts Birt Hogg Dube BHDS Unknown - - 22y Pneumothorax - Kenki Matsumoto 00359583
0000254843 Pneumothorax, lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Unknown - 56y 28y - - Kenki Matsumoto 00320379
0000254844 Fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00107984
0000254845 Lung cysts Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359586
0000254846 Pneumothorax, RCC Birt Hogg Dube BHDS Unknown - 49y - - - Kenki Matsumoto 00285784
0000254849 Pneumothorax, lung cyst, fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Derek Lim 00107986
0000254851 Pneumothorax, RCC Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359587
0000254852 Pneumothorax, lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359588
0000254853 Pneumothorax, lung cyst, fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00285789
0000254856 Fibrofolliculoma - - Unknown - - - - - Derek Lim 00285792
0000254857 Lung cyst - - Unknown - - - - - Kenki Matsumoto 00285794
0000254879 Pneumothorax, lung cyst BHDS Birt Hogg Dube Unknown - - - - - Kenki Matsumoto 00359606
0000254880 Pneumothorax, lung cysts, fibrofolliculoma BHDS Birt Hogg Dube Unknown - - - - - Kenki Matsumoto 00359607
0000254881 Pneumothorax BHDS Birt Hogg Dube Unknown 45y 45y 35y - - Kenki Matsumoto 00359608
0000254884 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown 15y 15y - - - Kenki Matsumoto 00359611
0000254885 Pneumothorax, lung cysts - - Unknown 45y - - - - Kenki Matsumoto 00359612
0000254886 no phenotyoes - - Unknown 08y - - - - Derek Lim 00359613
0000254887 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown 37y 37y 35y - - Kenki Matsumoto 00359614
0000254888 Pneumothorax, lung cyst, RCC - - Unknown - - - - - Kenki Matsumoto 00359615
0000254889 Lung cyst, fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359616
0000254890 3/7 PTX (56y, 49y, 43y), 7/7 lung cysts Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359617
0000254901 Pneumothorax, lung cyst, fibrofolliculoma Birt Hogg Dube BHDS Unknown 51y - - - - Kenki Matsumoto 00359628
0000254902 Pneumothorax, lung cyst and fibrofolliculoma Birt Hogg Dube BHDS Unknown 28y - - - - Kenki Matsumoto 00359629
0000254903 Pneumothorax, lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Unknown 50y - - - - Kenki Matsumoto 00359630
0000254911 Pneumothorax, lung cyst, RCC, fibrofolliculoma Birt Hogg Dube BHDS Unknown 72y - - - - Kenki Matsumoto 00359638
0000254912 Pneumothorax, lung cyst, fibrofolliculoma Birt Hogg Dube BHDS Unknown 33y - - - - Kenki Matsumoto 00359639
0000254913 Pneumothorax, lung cyst Birt Hogg Dube BHDS Unknown 72y - - - - Kenki Matsumoto 00359640
0000254914 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown 49y - - - - Kenki Matsumoto 00359641
0000254915 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown 67y - 67y - - Kenki Matsumoto 00359642
0000254933 Lung cysts, fibrofolliculoma - - Unknown 53y - - - - Kenki Matsumoto 00359660
0000254936 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown 38y - 28y - - Kenki Matsumoto 00359663
0000254938 Lung Cysts Birt Hogg Dube BHDS Unknown 22y - - - - Kenki Matsumoto 00359666
0000254939 Pneumothorax, lung cysts Birt Hogg Dube BHDS Unknown 55y - - - - Kenki Matsumoto 00359667
0000254940 Lung cysts Birt Hogg Dube BHDS Unknown 58y - - - - Kenki Matsumoto 00359669
0000254942 Lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Unknown 61y - - - - Kenki Matsumoto 00359670
0000254943 2 out of 3 pneumothoraces, 1 out of 3 RCC, 1 out of 3 fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00107990
0000254944 2 out of 2 lung cysts, 2 out of 2 fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00107991
0000254945 1/2 lung cysts, 2/2 fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Derek Lim 00107992
0000254946 Lung cysts, fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00108016
0000254947 5 out of 8 lung cysts, 1 out of 8 RCC, 7 out of 8 fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00108021
0000254948 4/4 lung cysts, 3/4 RCC, 4/4 fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00108025
0000254949 4/12 pneumothorax, 7/12 lung cysts, 2/12 RCC, 11/12 fibrofolliculoma - - Unknown - - - - - Kenki Matsumoto 00108048
0000254950 Lung cysts, RCC and fibrofolliculoma Birt Hogg Dube BHDS Unknown - - - - - Kenki Matsumoto 00359671
0000254951 1/2 pneumothorax, 2/2 lung cysts, 2/2 fibrofolliculoma - - Unknown - - - - - Kenki Matsumoto 00108052
0000254952 Fibrofolliculoma - - Unknown - - - - - Derek Lim 00108053
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