Reproductive Diseases Category (1390 diseases)


Including: Reproductive, Genital, Sperm, Testicles, Uterus, Penis, Vagina, Ovary, Fertility, Fallopian tubes, Gynecology, Obstetrics, Pregnancy
See other categories (disease lists)

# Family MCID Name MIFTS
1 P TST021 Testicular Germ Cell Tumor 60
2 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
3 P LSS036 Lissencephaly, X-Linked, 1 45
4 c LSS037 Lissencephaly, X-Linked, 2 35
5 HYP856 Hypothyroidism, Central, with Testicular Enlargement 39
6 XLN107 X-Linked Lissencephaly with Abnormal Genitalia 27
7 c 46X057 46,xy Sex Reversal 8 35
8 P PRS049 Persistent Mullerian Duct Syndrome 50
9 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 42
10 c 46X081 46,xx Sex Reversal 34
11 TST043 Testicular Seminoma 35
12 NNR008 Non-Recovering Obstetric Brachial Plexus Lesion 7
13 TST035 Testicular Anomalies with or Without Congenital Heart Disease 20
14 c SPR136 Spermatogenic Failure 33 19
15 c SPR137 Spermatogenic Failure 34 19
16 c SPR127 Spermatogenic Failure 24 19
17 c TST046 Testicular Germ Cell Tumor 1 29
18 P TST048 Testicular Sex Cord-Stromal Neoplasm 24
19 c SPR131 Spermatogenic Failure 28 21
20 c SPR135 Spermatogenic Failure 32 17
21 c SPR133 Spermatogenic Failure 30 16
22 VGN024 Vagina, Absence of 13
23 GLY100 Glycerol Kinase 2 12
24 NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 11
25 GLY101 Glycerol Kinase 3 Pseudogene 7
26 BRN052 Brenner Tumor of the Vagina 4
27 GNT136 Genetic Disorder of Sex Development of Gynecological Interest 3
28 RRG007 Rare Genetic Gynecological and Obstetrical Diseases 3
29 P PLV020 Pelvic Organ Prolapse 57
30 LST001 Listeriosis 56
31 TRC003 Trichomoniasis 53
32 TST025 Testicular Microlithiasis 29
33 YCH001 Y Chromosome Infertility 28
34 SCR025 Scarf Syndrome 25
35 MTH082 Methemoglobinemia and Ambiguous Genitalia 22
36 c SPR143 Spermatogenic Failure 38 20
37 c SPR128 Spermatogenic Failure 25 20
38 c SPR150 Spermatogenic Failure 40 19
39 c SPR152 Spermatogenic Failure 42 19
40 c SPR134 Spermatogenic Failure 31 19
41 c SPR153 Spermatogenic Failure 43 19
42 c SPR141 Spermatogenic Failure 36 19
43 c SPR142 Spermatogenic Failure 37 18
44 c SPR140 Spermatogenic Failure 35 18
45 c SPR149 Spermatogenic Failure 39 18
46 c SPR130 Spermatogenic Failure 27 18
47 c SPR132 Spermatogenic Failure 29 16
48 c SPR129 Spermatogenic Failure 26 16
49 c SPR151 Spermatogenic Failure 41 15
50 c PLV014 Pelvic Organ Prolapse 2 12
51 MCH007 Meacham Winn Culler Syndrome 8
52 VRC001 Varicocele 49
53 c 46X051 46,xy Sex Reversal 1 44
54 HYP784 Hypogonadism, Male 40
55 P DSR089 Disorders of Sexual Development 45
56 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 32
57 LMB076 Lumbar Syndrome 26
58 PRP011 Puerperal Pulmonary Embolism 22
59 NNS042 Nonsyndromic Disorders of Testicular Development 21
60 c 46X011 46, Xy Disorders of Sexual Development 20
61 c CLR145 Ciliary Dyskinesia, Primary, 45 20
62 MYT025 Myotubular Myopathy with Abnormal Genital Development 17
63 FCT031 Faciothoracogenital Syndrome 12
64 ENL011 Enolase, Sperm Specific 11
65 SPR122 Sperm-Specific Antigen 1 10
66 TMR023 Tumor of Testis and Paratestis 9
67 SHV002 Sohval Soffer Syndrome 7
68 SPR117 Sperm Protamine P4 6
69 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
70 GNT056 Genetic Gynecological Tumor 2
71 P OVR042 Ovarian Cancer 88
72 c HYP595 Hypertension, Essential 84
73 P ATX030 Ataxia-Telangiectasia 82
74 ADR007 Adrenoleukodystrophy 75
75 P FRG001 Fragile X Syndrome 70
76 c PRM196 Premature Ovarian Failure 1 67
77 c ATS347 Autosomal Dominant Polycystic Kidney Disease 65
78 P END044 Endometriosis 63
79 P PLY014 Polycystic Kidney Disease 62
80 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58
81 BRS051 Breast Disease 58
82 P PLY011 Polycystic Ovary Syndrome 56
83 PRS047 Prostatitis 56
84 PLV003 Pelvic Inflammatory Disease 55
85 AMN001 Amenorrhea 54
86 PRS045 Prostatic Hypertrophy 53
87 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
88 c PYR010 Peyronie's Disease 50
89 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
90 P CRV039 Cervicitis 49
91 P END046 Endometritis 49
92 END062 Endometrial Hyperplasia 48
93 CRR002 Currarino Syndrome 48
94 c MLG069 Malignant Hypertension 47
95 P UTR058 Uterine Anomalies 47
96 ANV001 Anovulation 47
97 P OVR046 Ovarian Cyst 47
98 c PRM093 Premature Ovarian Failure 7 47
99 c 46X082 46,xy Sex Reversal 46
100 PSD009 Pseudohermaphroditism 46
101 ORC001 Orchitis 46
102 VLV036 Vulvar Disease 46
103 END080 Endometrial Disease 46
104 VGN019 Vaginal Discharge 46
105 OLG001 Oligospermia 45
106 P OCY003 Oocyte Maturation Defect 1 45
107 GND001 Gonadoblastoma 44
108 P HYP078 Hypertrophy of Breast 43
109 PRS042 Prostate Disease 43
110 PRM013 Premature Menopause 41
111 VLV010 Vulvovaginitis 41
112 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 40
113 END007 Endosalpingiosis 40
114 EST004 Estrogen Excess 40
115 PRM020 Premenstrual Tension 40
116 END011 Endometriosis of Ovary 39
117 c PLY105 Polycystic Ovary Syndrome 1 38
118 c OVR114 Ovarian Cancer 1 38
119 PST029 Postmenopausal Atrophic Vaginitis 38
120 P SLP003 Salpingitis 38
121 P FML187 Familial Hypertension 37
122 P OVR075 Ovarian Dysgenesis 1 37
123 DYS017 Dysgerminoma of Ovary 37
124 BLN010 Balanitis 37
125 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37
126 PHM001 Phimosis 37
127 RPR002 Reproductive System Disease 37
128 P PYR039 Peyronie Disease 36
129 ADH001 Adhesions of Uterus 36
130 OLG022 Oligoasthenoteratozoospermia 36
131 CRV069 Cervix Disease 35
132 UTR042 Uterus Leiomyosarcoma 35
133 CRV025 Cervical Incompetence 34
134 MLR007 Male Reproductive System Disease 34
135 PNL013 Penile Disease 34
136 c FML353 Familial Ovarian Cancer 34
137 c CLR095 Ciliary Dyskinesia, Primary, 19 33
138 LTM002 Luteoma 32
139 EPD018 Epididymo-Orchitis 32
140 PST103 Postpartum Psychosis 32
141 TBR003 Tuberculous Epididymitis 32
142 OVR109 Ovarian Germ Cell Teratoma 32
143 VLV008 Vulvitis 31
144 BLN009 Balanoposthitis 31
145 MCR379 Microcystic Stromal Tumor 30
146 UTR020 Uterine Inversion 30
147 DRM005 Dermoid Cyst of Ovary 30
148 PRP013 Paraphimosis 30
149 BLN002 Balanitis Xerotica Obliterans 29
150 c MLG059 Malignant Struma Ovarii 29
151 c MLG053 Malignant Ovarian Brenner Tumor 29
152 PRS043 Prostate Rhabdomyosarcoma 29
153 c OVR076 Ovarian Dysgenesis 2 29
154 INH002 Inhibited Male Orgasm 28
155 OVR009 Ovarian Gonadoblastoma 28
156 TYL001 Taylor's Syndrome 27
157 OVR057 Ovarian Serous Adenofibroma 27
158 CRV068 Cervical Polyp 27
159 OVR002 Ovarian Serous Cystadenofibroma 27
160 PRM008 Parametritis 27
161 PRT086 Partial Hydatidiform Mole 27
162 c BNG021 Benign Essential Hypertension 26
163 c CHR085 Chronic Cervicitis 26
164 TBR002 Tuberculous Salpingitis 26
165 VLV019 Vulvar Syringoma 26
166 c ACT069 Acute Endometritis 26
167 INV018 Invasive Mole 25
168 PLY004 Polyp of Corpus Uteri 25
169 VLV009 Vulvar Leiomyoma 25
170 UTR054 Uterine Hypoplasia 25
171 INH003 Inhibited Female Orgasm 25
172 END016 Endocervicitis 25
173 LKP001 Leukoplakia of Penis 25
174 CRP004 Corpus Luteum Cyst 25
175 OVR098 Ovarian Fibroma 25
176 c PLY141 Polycystic Kidney Disease 5 24
177 SLP002 Salpingitis Isthmica Nodosa 24
178 INF025 Infected Hydrocele 24
179 FTN001 Fat Necrosis of Breast 24
180 c PRM094 Premature Ovarian Failure 5 24
181 OVR001 Ovarian Stromal Hyperthecosis 24
182 c PRM091 Premature Ovarian Failure 2b 24
183 P OVR045 Ovarian Clear Cell Adenofibroma 24
184 c PRM207 Premature Ovarian Failure 10 24
185 c PRM090 Premature Ovarian Failure 6 24
186 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
187 c BNG029 Benign Struma Ovarii 24
188 c END071 Endometriosis 1 23
189 c PRM089 Premature Ovarian Failure 3 23
190 CRV006 Cervix Endometriosis 23
191 c OVR107 Ovarian Dysgenesis 4 23
192 MMM002 Mammary-Digital-Nail Syndrome 23
193 CRV010 Cervix Erosion 23
194 PLY115 Polyendocrine-Polyneuropathy Syndrome 23
195 c PRM254 Premature Ovarian Failure 11 23
196 c CHR018 Chronic Salpingo-Oophoritis 23
197 PYS001 Pyosalpinx 23
198 c MLG039 Malignant Essential Hypertension 22
199 PRS007 Prostate Calculus 22
200 c PRM192 Premature Ovarian Failure 8 22
201 P SLP004 Salpingo-Oophoritis 22
202 VGN015 Vaginal Adenoma 22
203 c OVR102 Ovarian Dysgenesis 3 22
204 GRN001 Granulomatous Endometritis 22
205 VLV015 Vulvar Dystrophy 22
206 c ACT066 Acute Cervicitis 22
207 UTR028 Uterine Corpus Adenosarcoma 22
208 c OCY004 Oocyte Maturation Defect 3 21
209 PRS022 Prostate Leiomyoma 21
210 c ACT081 Acute Salpingitis 21
211 c CHR099 Chronic Salpingitis 21
212 PRS032 Prostate Leiomyosarcoma 21
213 GYN002 Gynatresia 21
214 TTR018 Tetragametic Chimerism 21
215 c OVR119 Ovarian Dysgenesis 7 21
216 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
217 c CHR017 Chronic Gonococcal Salpingitis 21
218 MCN003 Mucinous Ovarian Cystadenoma 21
219 PRS014 Prostatic Cyst 21
220 ATR009 Atrophy of Testis 21
221 c OVR115 Ovarian Dysgenesis 5 20
222 c PRM295 Premature Ovarian Failure 15 20
223 ACT048 Acute Gonococcal Cervicitis 20
224 c PRM253 Premature Ovarian Failure 13 20
225 GRN002 Granulomatous Orchitis 20
226 ACT057 Acute Gonococcal Endometritis 20
227 PSD084 Pseudo-Meigs Syndrome 20
228 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
229 NDL006 Nodular Prostate 20
230 NNC019 Non-Acquired Panhypopituitarism 20
231 c OVR120 Ovarian Dysgenesis 8 20
232 c HYP678 Hypertrophy of the Breast, Juvenile 20
233 c OCY002 Oocyte Maturation Defect 2 20
234 c PRM344 Premature Ovarian Failure 16 20
235 VLV046 Vulvovaginal Gingival Syndrome 19
236 c MLG080 Malignant Secondary Hypertension 19
237 c PRM191 Premature Ovarian Failure 9 19
238 c PRM292 Premature Ovarian Failure 14 19
239 c OCY005 Oocyte Maturation Defect 4 19
240 MLN056 Male Infertility with Teratozoospermia Due to Single Gene Mutation 19
241 PYM002 Pyometritis 18
242 EPD088 Epididymis Disease 18
243 c OCY007 Oocyte Maturation Defect 6 18
244 SPR064 Supernumerary Breasts 18
245 c PRM255 Premature Ovarian Failure 12 18
246 c OVR118 Ovarian Dysgenesis 6 18
247 c UTR006 Uterine Inflammatory Disease 18
248 P PRM176 Premature Ovarian Failure 2a 18
249 ATR007 Atrophic Vulva 18
250 c OCY006 Oocyte Maturation Defect 5 17
251 c FML266 Female Infertility Due to Zona Pellucida Defect 17
252 ATR008 Atrophy of Prostate 17
253 BRD046 Borderline Epithelial Tumor of Ovary 17
254 c PLY176 Polycystic Kidney Disease 4 16
255 PRL004 Prolapse of Urethra 16
256 DDL001 Didelphys Uterus 16
257 c OCY008 Oocyte Maturation Defect 7 16
258 RTV004 Rete Ovarii Adenoma 15
259 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
260 ADN061 Adenosarcoma of the Cervix Uteri 15
261 SMN002 Seminal Vesicle Cystadenoma 15
262 LNG081 Longitudinal Vaginal Septum 15
263 SCR005 Scrotum Paget's Disease 15
264 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 14
265 MXD024 Mixed Epithelial Tumor of Ovary 14
266 CRV032 Cervical Adenomyoma 14
267 OVR037 Ovarian Solid Teratoma 14
268 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
269 ACT024 Acute Gonococcal Prostatitis 12
270 ULC001 Ulceration of Vulva 12
271 RHB019 Rhabdomyosarcoma of the Cervix Uteri 12
272 BRS039 Breast Fibroadenosis 12
273 c ACT031 Acute Salpingo-Oophoritis 12
274 CLR006 Clear Cell Cystadenofibroma 12
275 HYM002 Hymen, Imperforate 12
276 PRL015 Prolapse of Female Genital Organ 12
277 VGN006 Vaginal Endometrial Stromal Tumor 12
278 ATY026 Atypical Meigs Syndrome 12
279 c BNG034 Benign Secondary Hypertension 11
280 P ACT023 Acute Gonococcal Salpingitis 11
281 VLV005 Vulvar Liposarcoma 11
282 c HYP447 Hypertension, Essential 1 11
283 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 11
284 c HYP449 Hypertension, Essential 3 11
285 c HYP452 Hypertension, Essential 6 11
286 c INF020 Infertility Due to Extratesticular Cause 11
287 P OVR052 Ovarian Endometrioid Adenofibroma 10
288 c HYP448 Hypertension, Essential 2 10
289 c HYP450 Hypertension, Essential 4 10
290 MDL004 Midline Cystocele 10
291 PRS020 Prostatocystitis 10
292 UTR010 Uterine Cervix Leukoplakia 10
293 MLG166 Malignant Sex Cord Stromal Tumor of Ovary 10
294 PLV002 Pelvic Muscle Wasting 10
295 c HYP451 Hypertension, Essential 5 10
296 c HYP454 Hypertension, Essential 8 10
297 FML002 Female Infertility of Uterine Origin 10
298 c HYP453 Hypertension, Essential 7 9
299 PRN004 Perineocele 9
300 VLV012 Vulvar Granular Cell Tumor 9
301 TBR005 Tuberculous Oophoritis 9
302 TST011 Testis Rhabdomyosarcoma 9
303 VLV014 Vulva Fibroepithelial Polyp 9
304 LTR006 Lateral Cystocele 8
305 CRV018 Cervix Squamous Papilloma 8
306 PNS004 Penis Paget's Disease 8
307 SLT004 Solitary Cyst of Breast 8
308 OVR038 Ovarian Fetiform Teratoma 8
309 END009 Endometriosis of Pelvic Peritoneum 7
310 ACT039 Acute Gonococcal Epididymo-Orchitis 7
311 UTR034 Uterine Corpus Cellular Leiomyoma 7
312 VLV045 Vulvovaginal Rhabdomyosarcoma 7
313 c ACQ064 Acquired Premature Ovarian Failure 7
314 UTR019 Uterine Corpus Lipoleiomyoma 6
315 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 6
316 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 6
317 UTR018 Uterine Corpus Bizarre Leiomyoma 6
318 CHR030 Chronic Gonorrhea of Cervix 6
319 OVR032 Ovarian Surface Papilloma 6
320 TST008 Testis Polyembryoma 6
321 END023 Endocervical Type Cervical Adenomyoma 6
322 CYS049 Cystadenoma of Childhood 6
323 MLG025 Male Genital Organ Stricture 6
324 GNT034 Giant Adenofibroma of the Breast 6
325 UTR015 Uterine Corpus Myxoid Leiomyoma 5
326 VLV022 Vulvar Trichoepithelioma 5
327 ADN019 Adenomyoma of Uterine Corpus 5
328 CHL036 Childhood Mature Teratoma of the Ovary 5
329 CHL063 Childhood Teratoma of the Ovary 5
330 UTR021 Uterine Corpus Myxoid Leiomyosarcoma 5
331 UTR022 Uterine Corpus Atypical Polypoid Adenomyoma 5
332 MKT001 Mikati-Najjar-Sahli Syndrome 5
333 CHN007 Chondroid Syringoma of the Vulva 5
334 UTR014 Uterine Corpus Epithelioid Leiomyoma 5
335 VLV017 Vulvar Nodular Hidradenoma 5
336 CRV041 Cervix Endometrial Stromal Tumor 5
337 NNS001 Non Specific Chronic Endometritis 5
338 RTV001 Rete Ovarii Cystadenoma 5
339 PLY009 Polyembryoma of the Ovary 5
340 CRV021 Cervical Atypical Polypoid Adenomyoma 5
341 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
342 ABS021 Absence of Uterine Body 5
343 HYP033 Hypertrophic Elongation of Cervix 5
344 ACT054 Acute Female Pelvic Peritonitis 5
345 CHR032 Chronic Subinvolution of Uterus 4
346 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
347 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
348 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
349 MCN025 Mucinous Cystadenoma of Childhood 4
350 SRS014 Serous Cystadenoma of Childhood 4
351 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 3
352 TMX001 Tamoxifen-Related Endometrial Lesion 3
353 c FRG004 Fragile X Syndrome Type 1 3
354 c FRG005 Fragile X Syndrome Type 2 3
355 c FRG006 Fragile X Syndrome Type 3 3
356 ATS478 Autosomal Recessive Congenital Bilateral Absence of Vas Deferens 3
357 ANM050 Anomaly of Puberty or/and Menstrual Cycle 3
358 SYN100 Syndromic Uterovaginal Malformation 3
359 DFC007 Deficient Breast Volume or Number 3
360 EXC006 Excess Breast Volume or Number 3
361 c MCR256 Microphthalmia, Syndromic 9 56
362 c MCR261 Microphthalmia, Syndromic 2 46
363 c MCR241 Microphthalmia, Syndromic 3 43
364 c MCR263 Microphthalmia, Syndromic 1 40
365 P SYN165 Syndromic Microphthalmia 35
366 c MCR312 Microphthalmia, Syndromic 10 35
367 c MCR251 Microphthalmia, Syndromic 6 35
368 c MCR245 Microphthalmia, Syndromic 8 34
369 c MCR252 Microphthalmia, Syndromic 5 34
370 c MCR212 Microphthalmia, Syndromic 12 28
371 c MCR262 Microphthalmia, Syndromic 4 25
372 c MCR228 Microphthalmia, Syndromic 13 24
373 c MCR217 Microphthalmia, Syndromic 11 23
374 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 24
375 MRB006 Morbid Obesity and Spermatogenic Failure 21
376 P RBN002 Robinow Syndrome 49
377 c RBN017 Robinow Syndrome, Autosomal Dominant 2 46
378 c ATS082 Autosomal Dominant Robinow Syndrome 41
379 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
380 TST001 Testicular Leydig Cell Tumor 25
381 c RBN023 Robinow Syndrome, Autosomal Recessive 2 24
382 c RR2001 Ror2-Related Robinow Syndrome 13
383 P LYD011 Leydig Cell Hypoplasia 34
384 SXC001 Sex Cord-Gonadal Stromal Tumor 43
385 PGM001 Pigmented Villonodular Synovitis 56
386 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 53
387 c RBN018 Robinow Syndrome, Autosomal Dominant 1 51
388 ZKF001 Zika Fever 47
389 EXS017 Exstrophy of Bladder 45
390 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 11
391 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
392 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
393 P RRF012 Rare Female Infertility 6
394 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
395 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
396 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
397 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
398 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
399 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
400 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
401 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
402 RRG035 Rare Genetic Disorder with Obstructive Azoospermia 3
403 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
404 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
405 SCK003 Sickle Cell Anemia 74
406 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
407 OVR029 Ovarian Hyperstimulation Syndrome 64
408 c PRC016 Pre-Eclampsia 63
409 P KLL001 Kallmann Syndrome 61
410 GST033 Gestational Diabetes 61
411 SPP011 Suppression of Tumorigenicity 12 59
412 CHL123 Chlamydia 59
413 CRV038 Cervical Squamous Cell Carcinoma 58
414 P INF032 Infertility 57
415 ADN027 Adenomyosis 56
416 P MLN007 Male Infertility 55
417 PRT082 Preterm Premature Rupture of the Membranes 54
418 VGN023 Vaginitis 54
419 ADR049 Adrenal Hypoplasia, Congenital 54
420 MMM001 Mammary Paget's Disease 53
421 BCT002 Bacterial Vaginosis 53
422 MST005 Mastitis 53
423 OVR059 Ovary Adenocarcinoma 53
424 P OVR049 Ovarian Disease 52
425 PRS021 Prostatic Adenoma 51
426 P ECL001 Eclampsia 50
427 c SVR005 Severe Pre-Eclampsia 50
428 AZS001 Azoospermia 50
429 ECT026 Ectopic Pregnancy 50
430 VGN020 Vaginal Disease 49
431 VLV011 Vulvovaginal Candidiasis 49
432 P CRV031 Cervical Adenocarcinoma 49
433 c 46X049 46,xy Sex Reversal 2 49
434 BRS056 Breast Metaplastic Carcinoma 47
435 PGT003 Paget Disease, Extramammary 47
436 PLC003 Placental Site Trophoblastic Tumor 47
437 TST044 Testicular Torsion 47
438 c CRV002 Cervix Uteri Carcinoma in Situ 46
439 CMP034 Complete Androgen Insensitivity Syndrome 46
440 HYD005 Hydrocele 46
441 UTR033 Uterine Corpus Cancer 45
442 FML005 Female Reproductive Endometrioid Cancer 45
443 DYS101 Dysgerminoma 44
444 PLN006 Poland Syndrome 44
445 VLV044 Vulvar Intraepithelial Neoplasia 44
446 P OVR106 Ovarian Clear Cell Carcinoma 44
447 SMN007 Seminoma 43
448 c 46X030 46,xy Sex Reversal 9 42
449 TRP009 Triple X Syndrome 42
450 OVR044 Ovarian Carcinosarcoma 42
451 ADN020 Adenosarcoma 42
452 MLR006 Male Reproductive Organ Cancer 40
453 c 46X055 46,xy Sex Reversal 3 40
454 c OVR058 Ovarian Small Cell Carcinoma 39
455 FML039 Female Reproductive System Disease 39
456 P STR021 Struma Ovarii 38
457 FLL029 Fallopian Tube Disease 38
458 END075 Endocervical Adenocarcinoma 37
459 OVR105 Ovarian Serous Carcinoma 37
460 UTR037 Uterine Corpus Sarcoma 36
461 HRM002 Hermaphroditism 36
462 VLV020 Vulvar Melanoma 36
463 END029 Endocervical Carcinoma 36
464 OVR051 Ovarian Endodermal Sinus Tumor 36
465 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 35
466 END025 Endometrial Squamous Cell Carcinoma 35
467 P MXD016 Mixed Gonadal Dysgenesis 35
468 END032 Endometrial Clear Cell Adenocarcinoma 35
469 CRV013 Cervical Adenoid Cystic Carcinoma 34
470 OVR060 Ovary Epithelial Cancer 34
471 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 33
472 SPT023 Septate Uterus 33
473 c SPR088 Spermatogenic Failure 7 32
474 c SPR118 Spermatogenic Failure 1 32
475 OVR026 Ovary Transitional Cell Carcinoma 32
476 c SPR093 Spermatogenic Failure, Y-Linked, 2 32
477 CYT014 Cytochrome P450 Oxidoreductase Deficiency 32
478 c SPR113 Spermatogenic Failure 18 32
479 OVR048 Ovarian Cystadenoma 32
480 EPT003 Epithelioid Trophoblastic Tumor 31
481 UTR032 Uterine Body Mixed Cancer 31
482 ASH001 Asherman's Syndrome 31
483 c SPR111 Spermatogenic Failure 16 31
484 LGN005 Ligneous Conjunctivitis 31
485 SPR017 Spermatocele 31
486 CHR075 Choriocarcinoma of Ovary 31
487 CLR137 Clear Cell Adenocarcinoma of the Ovary 31
488 CRV033 Cervical Adenosquamous Carcinoma 31
489 OVR013 Ovarian Mucinous Cystadenocarcinoma 30
490 GRN033 Granulomatous Mastitis 30
491 OVR041 Ovarian Benign Neoplasm 30
492 END013 Endometrial Small Cell Carcinoma 30
493 CRV026 Cervical Clear Cell Adenocarcinoma 30
494 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
495 PRS004 Prostate Squamous Cell Carcinoma 29
496 END018 Endometrium Carcinoma in Situ 29
497 UTR031 Uterine Benign Neoplasm 29
498 OVR123 Ovarian Seromucinous Carcinoma 29
499 c SPR092 Spermatogenic Failure, Y-Linked, 1 29
500 SBM005 Submucous Uterine Fibroid 29
501 OVR097 Ovarian Fibrothecoma 29
502 PRS044 Prostate Sarcoma 29
503 NPP006 Nipples, Supernumerary 29
504 EPD014 Epididymis Adenocarcinoma 28
505 OVR017 Ovarian Cystic Teratoma 28
506 HMM001 Hemometra 28
507 VSD001 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 28
508 PRS008 Prostate Small Cell Carcinoma 28
509 RPR001 Reproductive Organ Benign Neoplasm 28
510 c 46X017 46,xy Sex Reversal 6 28
511 LKR001 Leukorrhea 27
512 CRV028 Cervical Adenosarcoma 27
513 PRS009 Prostate Stromal Sarcoma 27
514 PRS010 Prostate Embryonal Rhabdomyosarcoma 27
515 c 46X048 46,xx Sex Reversal 2 27
516 UTR056 Uterine Corpus Endometrial Carcinoma 27
517 PRS006 Prostatic Acinar Adenocarcinoma 27
518 CYS015 Cystadenofibroma 27
519 CHR010 Chorioangioma 27
520 RTT004 Rete Testis Adenocarcinoma 26
521 VLV018 Vulvar Angiokeratoma 26
522 c SPR084 Spermatogenic Failure 2 26
523 PGD001 Pagod Syndrome 26
524 UTR030 Uterine Adnexa Cancer 25
525 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 25
526 CRV029 Cervical Keratinizing Squamous Cell Carcinoma 25
527 END003 Endometrial Stromal Nodule 25
528 c 46X047 46,xy Sex Reversal 7 25
529 BNG025 Benign Mammary Dysplasia 25
530 VLV039 Vulvar Seborrheic Keratosis 25
531 VLV038 Vulvar Sarcoma 25
532 VGN005 Vaginal Endometrial Stromal Sarcoma 25
533 FBR016 Fibrosclerosis of Breast 25
534 PRD041 Periodic Fever, Menstrual Cycle-Dependent 24
535 MTR011 Mature Teratoma of the Ovary 24
536 c 46X058 46,xy Sex Reversal 10 24
537 MLR005 Male Reproductive Organ Benign Neoplasm 24
538 BRT012 Bartholin's Gland Adenoma 23
539 RTT003 Rete Testis Adenoma 23
540 c 46X056 46,xy Sex Reversal 5 23
541 TST007 Testicular Infarct 23
542 OVR103 Ovarian Endometrial Cancer 23
543 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 23
544 UTR009 Uterus Carcinoma in Situ 23
545 MCR015 Microinvasive Cervical Squamous Cell Carcinoma 23
546 GST035 Gestational Ovarian Choriocarcinoma 23
547 GYN003 Gynandroblastoma 23
548 OVR104 Ovarian Melanoma 22
549 c 46X059 46,xx Sex Reversal 4 22
550 CRV020 Cervical Non-Keratinizing Squamous Cell Carcinoma 22
551 OVR056 Ovarian Primitive Germ Cell Tumor 22
552 OVR027 Ovarian Squamous Cell Carcinoma 22
553 MCN010 Mucinous Cystadenofibroma 22
554 EXC001 Exocervical Carcinoma 22
555 OVR016 Ovarian Endometrioid Stromal Sarcoma 22
556 PRS005 Prostate Angiosarcoma 22
557 MSC089 Mosaic Monosomy X 21
558 c SPR115 Spermatogenic Failure 19 21
559 PDT003 Pediatric Ovarian Dysgerminoma 21
560 c 46X046 46,xy Sex Reversal 4 21
561 c SPR110 Spermatogenic Failure 17 21
562 VLV026 Vulvar Leiomyosarcoma 21
563 BRT014 Bartholin's Duct Cyst 21
564 PRV001 Parovarian Cyst 21
565 VGN016 Vaginal Benign Neoplasm 21
566 c SPR114 Spermatogenic Failure 20 20
567 PDT022 Pediatric Ovarian Germ Cell Tumor 20
568 SBS001 Subserous Uterine Fibroid 20
569 PRT028 Paratesticular Lipoma 20
570 c PRS031 Prostate Carcinoma in Situ 20
571 ADN007 Adenosquamous Prostate Carcinoma 20
572 c SPR082 Spermatogenic Failure 10 20
573 DST037 Distal Monosomy 9p 20
574 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 20
575 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 20
576 VLV002 Vulva Basal Cell Carcinoma 19
577 EXT063 Extrapelvic Endometriosis 19
578 VGN031 Vaginal Atresia 19
579 FLL006 Fallopian Tube Endometriosis 19
580 SMN005 Seminal Vesicle Adenocarcinoma 19
581 P VGN018 Vaginal Carcinosarcoma 19
582 VGN012 Vaginal Adenosarcoma 19
583 VGN011 Vagina Leiomyosarcoma 19
584 VGN010 Vaginal Tubulovillous Adenoma 18
585 c MLN078 Male Infertility Due to Acephalic Spermatozoa 18
586 c SPR125 Spermatogenic Failure 23 18
587 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
588 VLV023 Vulvar Eccrine Porocarcinoma 18
589 c SPR095 Spermatogenic Failure 14 18
590 VLV031 Vulva Adenocarcinoma 18
591 OVR061 Ovary Sarcoma 17
592 c 46X050 46,xx Sex Reversal 3 17
593 c MLG033 Malignant Ovarian Cyst 17
594 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17
595 c ERL005 Early Invasive Cervical Adenocarcinoma 17
596 c SPR112 Spermatogenic Failure 21 17
597 c SPR124 Spermatogenic Failure 22 17
598 SCR013 Scrotum Squamous Cell Carcinoma 16
599 BRT060 Bartholin's Gland Disease 16
600 HYP689 Hypomelia with Mullerian Duct Anomalies 16
601 OVR033 Ovary Papillary Carcinoma 16
602 MLG155 Maligant Granulosa Cell Tumor of the Ovary 16
603 6Q1002 6q16 Microdeletion Syndrome 16
604 CLT001 Clitoris Cancer 15
605 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
606 SRC029 Sarcoma of Cervix Uteri 14
607 TST041 Testicular Germ Cell Tumor Non-Seminomatous 14
608 CRV024 Cervical Adenoid Basal Carcinoma 14
609 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
610 OVR039 Ovarian Mesodermal Adenosarcoma 13
611 DRT001 Dartoic Leiomyoma 13
612 c MLN081 Male Infertility Due to Sperm Motility Disorder 13
613 VGN004 Vaginal Yolk Sac Tumor 13
614 OVR040 Ovarian Clear Cell Cystadenocarcinoma 13
615 PNS008 Penis Basal Cell Carcinoma 13
616 c 46X080 46,xx Sex Reversal 5 13
617 CRV034 Cervical Benign Neoplasm 13
618 c KLL005 Kallmann Syndrome 3 13
619 XSM001 X Small Rings 12
620 c RRM015 Rare Male Infertility 12
621 P CRV009 Cervix Melanoma 12
622 VLV035 Vulvar Benign Neoplasm 12
623 MST003 Masters-Allen Syndrome 12
624 OVR031 Ovarian Papillary Cystadenoma 12
625 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 11
626 c PRM047 Primary Malignant Melanoma of the Cervix 11
627 ADN062 Adenoid Basal Carcinoma of the Cervix Uteri 11
628 MYX002 Myxoid Liposarcoma of the Ovary 11
629 OVR055 Ovarian Papillary Neoplasm 11
630 LMY012 Leiomyosarcoma of the Cervix Uteri 11
631 LKP002 Leukoplakia of Vagina 11
632 WLF005 Wolffian Adnexal Neoplasm 11
633 LPS003 Liposarcoma of the Ovary 11
634 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
635 CRV023 Cervical Adenofibroma 10
636 LBM005 Labia Minora Cancer 10
637 CRV012 Cervical Verrucous Carcinoma 10
638 VLV001 Vulvar Keratinizing Squamous Cell Carcinoma 10
639 LBM004 Labium Majus Cancer 10
640 P RRC012 Rare Cancer of Cervix Uteri 10
641 PRT111 Partial Septate Uterus 10
642 EPD013 Epididymis Adenomatoid Tumor 10
643 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 10
644 c RRB002 Rare Benign Breast Tumor 9
645 END024 Endometrial Transitional Cell Carcinoma 9
646 CRV016 Cervical Wilms' Tumor 9
647 VLV006 Vulva Verrucous Carcinoma 9
648 P OVR053 Ovarian Mucinous Adenofibroma 9
649 OVR008 Ovarian Mucinous Cystadenofibroma 9
650 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
651 VLV027 Vulvar Keratoacanthoma-Like Carcinoma 8
652 MLG156 Malignant Dysgerminomatous Germ Cell Tumor of the Ovary 8
653 UTR016 Uterus Interstitial Leiomyoma 8
654 END008 Endometriosis of Intestine 8
655 c KLL008 Kallmann Syndrome 6 8
656 VLV004 Vulvar Sebaceous Carcinoma 8
657 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 8
658 c KLL006 Kallmann Syndrome 4 8
659 PRC053 Precocious Puberty in Female 8
660 FLL018 Fallopian Tube Teratoma 8
661 TRN048 Transitional Cell Carcinoma of the Corpus Uteri 8
662 OVR019 Ovarian Malignant Mesothelioma 8
663 SCR012 Scrotum Melanoma 7
664 VGN008 Vaginal Spindle Cell Epithelioma 7
665 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
666 FLL004 Fallopian Tube Serous Papilloma 7
667 END010 Endometriosis of Rectovaginal Septum and Vagina 7
668 VLV040 Vulvar Squamous Papilloma 7
669 UTR004 Uterus Intravascular Leiomyomatosis 7
670 UTR036 Uterine Corpus Leiomyomatosis 7
671 UTR035 Uterine Corpus Choriocarcinoma 7
672 CHL038 Childhood Choriocarcinoma of the Ovary 7
673 c KLL007 Kallmann Syndrome 5 7
674 VGN003 Vaginal Mullerian Papilloma 7
675 MNR001 Minor Vestibular Glands Adenoma 7
676 PRS001 Prostate Colloid Adenocarcinoma 7
677 MCR007 Micropapillomatosis Labialis 7
678 UTR059 Uterovaginal Malformation 6
679 VLL004 Villoglandular Variant Cervical Mucinous Adenocarcinoma 6
680 UTR005 Uterine Corpus Adenomatoid Tumor 6
681 FLL005 Fallopian Tube Adenosarcoma 6
682 CRV017 Cervical Mullerian Papilloma 6
683 ISL100 Isolated Congenital Breast Hypoplasia/aplasia 6
684 END012 Endometriosis in Scar of Skin 6
685 PRM017 Parametrium Malignant Neoplasm 6
686 VGN032 Vaginal Squamous Papilloma 6
687 VLV025 Vulvar Alveolar Soft Part Sarcoma 6
688 UTR025 Uterine Corpus Adenofibroma 6
689 BRT009 Bartholin's Gland Adenomyoma 6
690 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 6
691 VLV003 Vulvar Basaloid Squamous Cell Carcinoma 6
692 PNS006 Penis Papillary Carcinoma 6
693 GST021 Gestational Uterine Corpus Choriocarcinoma 6
694 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 6
695 c MLN082 Male Infertility Due to Sperm Disorder 6
696 UTR023 Uterine Corpus Epithelioid Leiomyosarcoma 5
697 VGN007 Vaginal Villous Adenoma 5
698 CHL011 Childhood Immature Teratoma of Ovary 5
699 UTR007 Uterine Corpus Apoplectic Leiomyoma 5
700 OVR036 Ovarian Endometrioid Cystadenofibroma 5
701 END022 Endometrial Type Cervical Adenomyoma 5
702 PPL043 Papillary Carcinoma of the Cervix Uteri 5
703 THC005 Theca Steroid-Producing Cell Malignant Tumor of Ovary, Not Further Specified 5
704 VGN022 Vaginal Squamous Tumor 5
705 FLL009 Fallopian Tube Adenomatoid Tumor 5
706 OVR028 Ovarian Squamous Cell Neoplasm 5
707 VLV028 Vulvar Non-Keratinizing Squamous Cell Carcinoma 5
708 VLV024 Vulvar Clear Cell Hidradenocarcinoma 5
709 GLS005 Glassy Cell Variant Cervical Adenosquamous Carcinoma 5
710 MLG114 Malignant Germ Cell Tumor of the Corpus Uteri 5
711 c SMN004 Seminal Vesicle Chronic Gonorrhea 5
712 HRN002 Hernia of Ovary and Fallopian Tube 5
713 c OVR071 Ovarian Insufficiency, Familial 5
714 MLG026 Male Genital Organ Vascular Disease 5
715 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
716 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
717 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
718 UTR017 Uterine Corpus Dissecting Leiomyoma 5
719 OVR014 Ovarian Clear Cell Cystadenofibroma 5
720 VGN009 Vaginal Tubular Adenoma 5
721 RTV003 Rete Ovarii Cystadenofibroma 5
722 OVR007 Ovarian Endometrioid Cystadenoma 5
723 UTR055 Uterine Cervical Aplasia and Agenesis 5
724 NNC016 Non-Acquired Premature Ovarian Failure 5
725 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
726 PNS001 Penis Non-Invasive Verrucous Carcinoma 4
727 PNS003 Penis Basaloid Carcinoma 4
728 CRC031 Carcinofibroma of the Corpus Uteri 4
729 UTR003 Uterine Corpus Diffuse Leiomyomatosis 4
730 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
731 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
732 RRB005 Rare Breast Malformation 4
733 SRM003 Seromucinous Cystadenoma of Childhood 4
734 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
735 CHY001 Chylocele of Tunica Vaginalis 3
736 UTR008 Uterine Corpus Adenocarcinofibroma 3
737 RRN006 Rare Non-Malformative Breast Disease 3
738 SYN099 Syndromic Breast Hypoplasia/aplasia 3
739 ADN059 Adenosarcoma of the Corpus Uteri 3
740 RRN004 Rare Non-Malformative Uterine Adnexal Disease 3
741 RRT003 Rare Uterine Adnexal Tumor 3
742 NNS049 Non-Syndromic Uterovaginal Malformation 3
743 P HRP006 Herpes Simplex 65
744 URG001 Urogenital Tuberculosis 28
745 CLR014 Clear Cell Adenoma 24
746 c CNG100 Congenital Herpes Simplex 23
747 P BRS047 Breast Cancer 97
748 P MYC084 Mycobacterium Tuberculosis 1 68
749 FLL027 Fallopian Tube Carcinoma 67
750 PTT048 Pituitary Adenoma, Prolactin-Secreting 65
751 END041 Endometrial Adenocarcinoma 63
752 CHC001 Chickenpox 60
753 VGN017 Vaginal Cancer 60
754 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59
755 P BRS044 Breast Adenocarcinoma 59
756 CRY035 Cryptorchidism, Unilateral or Bilateral 58
757 P SYP003 Syphilis 58
758 c MYT020 Myotonic Dystrophy 2 57
759 PLC005 Placental Insufficiency 57
760 P PNL012 Penile Cancer 56
761 OVR012 Ovarian Serous Cystadenocarcinoma 56
762 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
763 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 56
764 ANG005 Anogenital Venereal Wart 55
765 MYM001 Myoma 54
766 TRC096 Trichothiodystrophy 52
767 P HYP730 Hypogonadotropic Hypogonadism 52
768 c BRS049 Breast Carcinoma in Situ 51
769 P HYP040 Hypospadias 51
770 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 51
771 CRV040 Cervix Carcinoma 51
772 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
773 P 46X052 46,xx Sex Reversal 1 50
774 KRT010 Kartagener Syndrome 50
775 LPR001 Lepromatous Leprosy 50
776 c INF023 Inflammatory Breast Carcinoma 50
777 c LYM144 Lymphatic Malformation 1 48
778 LPT006 Leptin Receptor Deficiency 48
779 VLV034 Vulva Squamous Cell Carcinoma 48
780 PRP007 Priapism 47
781 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 47
782 P PRC019 Precocious Puberty 46
783 c CNT075 Central Precocious Puberty 46
784 P LPR012 Leopard Syndrome 1 46
785 c BRS007 Breast Malignant Phyllodes Tumor 46
786 GST010 Gestational Trophoblastic Neoplasm 46
787 c LYM145 Lymphatic Malformation 5 45
788 c SPR009 Sporadic Breast Cancer 45
789 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 45
790 OVR112 Ovarian Germ Cell Cancer 45
791 P SPR041 Spermatogenic Failure 6 44
792 c SPR086 Spermatogenic Failure 3 44
793 END085 Endometrial Serous Adenocarcinoma 44
794 P TST026 Testicular Germ Cell Cancer 43
795 P RRB004 Rare Breast Tumor 43
796 EST007 Estrogen Resistance 41
797 c SPR043 Spermatogenic Failure 9 41
798 c SCN006 Secondary Syphilis 40
799 c LYM150 Lymphatic Malformation 7 40
800 PNS010 Penis Squamous Cell Carcinoma 40
801 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40
802 c CNG033 Congenital Syphilis 40
803 P SPR119 Spermatogenic Failure, X-Linked, 1 39
804 ENT001 Enterocele 39
805 OVR034 Ovarian Clear Cell Adenocarcinoma 38
806 OVR047 Ovarian Cystadenocarcinoma 38
807 P OVR010 Ovarian Brenner Tumor 38
808 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 37
809 PRP098 Proprotein Convertase 1/3 Deficiency 37
810 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
811 c LPR011 Leopard Syndrome 2 36
812 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 36
813 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 36
814 OVR011 Ovarian Mucinous Adenocarcinoma 36
815 P BNG013 Benign Breast Phyllodes Tumor 36
816 OVR015 Ovarian Mixed Germ Cell Neoplasm 35
817 CRV022 Cervix Small Cell Carcinoma 35
818 LMB008 Limb-Mammary Syndrome 35
819 c CNG562 Congenital Hypogonadotropic Hypogonadism 34
820 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 34
821 END043 Endometrial Stromal Tumor 33
822 IMM005 Immature Teratoma of Ovary 33
823 c SPR089 Spermatogenic Failure 4 33
824 ADN014 Adenomatoid Tumor 33
825 TST010 Testicular Spermatocytic Seminoma 33
826 c SPR061 Spermatogenic Failure 5 33
827 PRT049 Partial Deletion of Y 33
828 WLF006 Wolffian Duct Adenocarcinoma 32
829 c SPR042 Spermatogenic Failure 8 32
830 CRV014 Cervical Adenoma Malignum 32
831 c LTC001 Late Congenital Syphilis 32
832 P RRL003 Rare Lymphatic Malformation 31
833 FLL023 Fallopian Tube Adenocarcinoma 31
834 c PRM022 Primary Syphilis 31
835 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 30
836 P TST016 Testicular Granulosa Cell Tumor 30
837 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
838 OVR054 Ovarian Mucinous Neoplasm 29
839 PRS002 Prostate Lymphoma 29
840 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
841 SPR018 Spermatocytoma 29
842 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
843 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
844 c LYM149 Lymphatic Malformation 6 28
845 IDP034 Idiopathic Central Precocious Puberty 28
846 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28
847 EPD017 Epididymis Cancer 28
848 PRS027 Prostate Transitional Cell Carcinoma 28
849 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
850 PRS017 Prostate Neuroendocrine Neoplasm 28
851 TST020 Testis Seminoma 28
852 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 27
853 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
854 c RRD004 Rare Adenocarcinoma of the Breast 27
855 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
856 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
857 VLV021 Vulval Paget's Disease 27
858 YNG002 Young Syndrome 26
859 HMT001 Hematocele of Tunica Vaginalis Testis 26
860 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
861 c LPR007 Leopard Syndrome 3 26
862 PNL025 Penile Benign Neoplasm 26
863 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
864 LPM001 Lipoma of Spermatic Cord 26
865 MLG164 Malignant Epithelial Tumor of Ovary 26
866 WLF003 Wolffian Duct Adenoma 26
867 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
868 CRV036 Cervical Carcinosarcoma 26
869 VLV050 Vulvar Adenocarcinoma 26
870 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
871 OVR062 Ovary Serous Adenocarcinoma 25
872 NNG001 Non-Gestational Choriocarcinoma 25
873 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 25
874 PRS015 Prostate Signet Ring Cell Adenocarcinoma 25
875 MLG154 Malignant Sertoli-Leydig Cell Tumor of the Ovary 25
876 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
877 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
878 c ERL002 Early Congenital Syphilis 25
879 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
880 VLV030 Vulvar Proximal-Type Epithelioid Sarcoma 25
881 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
882 UTR029 Uterus Perivascular Epithelioid Cell Tumor 24
883 OVR021 Ovarian Lymphoma 24
884 BRT016 Bartholin's Gland Carcinoma 24
885 c SPR081 Spermatogenic Failure 11 24
886 BCR002 Bicornuate Uterus 24
887 IND004 Indeterminate Leprosy 24
888 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 24
889 HRD114 Hereditary Site-Specific Ovarian Cancer Syndrome 23
890 TRC121 Trichomonas Vaginalis Trichomoniasis 23
891 c LYM147 Lymphatic Malformation 3 23
892 c PRC047 Precocious Puberty, Central, 1 23
893 c PRC046 Precocious Puberty, Central, 2 23
894 VLV016 Vulvar Apocrine Adenocarcinoma 22
895 c PNL017 Penile Cancer, Adult 22
896 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 22
897 OVR003 Ovarian Angiosarcoma 22
898 EPD012 Epididymal Neoplasm 22
899 c LYM148 Lymphatic Malformation 4 22
900 PRS019 Prostate Adenoid Cystic Carcinoma 22
901 NNS033 Non-Syndromic Male Infertility Due to Sperm Motility Disorder 21
902 SCR017 Scrotum Neoplasm 21
903 FLL028 Fallopian Tube Carcinosarcoma 20
904 VST005 Vestibular Gland Benign Neoplasm 20
905 c SPR091 Spermatogenic Failure, X-Linked, 2 20
906 c ADL043 Adult Type Testicular Granulosa Cell Tumor 20
907 FML019 Familiar Ovarian Carcinoma 20
908 TST005 Testicular Gonadoblastoma 19
909 SCR016 Scrotal Carcinoma 19
910 RTT005 Rete Testis Neoplasm 19
911 SMN006 Seminal Vesicle Tumor 19
912 c SPR087 Spermatogenic Failure 12 19
913 c LYM155 Lymphatic Malformation 8 19
914 CRV011 Cervical Serous Adenocarcinoma 19
915 HYD021 Hydrocephalus Obesity Hypogonadism 19
916 END001 Endometrial Mucinous Adenocarcinoma 18
917 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 18
918 SPR014 Spermatic Cord Cancer 18
919 VGN021 Vaginal Glandular Tumor 18
920 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 18
921 BRT015 Bartholin's Gland Adenocarcinoma 18
922 TST012 Testicular Fibroma 18
923 PNS007 Penis Sarcoma 18
924 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
925 c SPR096 Spermatogenic Failure 13 18
926 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
927 TST040 Testicular Trophoblastic Tumor 17
928 TST013 Testicular Thecoma 17
929 CRV037 Cervical Mucinous Adenocarcinoma 17
930 MLG118 Malignancy Diagnosed During Pregnancy 17
931 c SPR116 Spermatogenic Failure 15 17
932 IST001 Isthmus Cancer 16
933 PRM194 Primary Peritoneal Serous/papillary Carcinoma 16
934 MCN019 Mucinous Adenocarcinoma of Ovary 16
935 CRV001 Cervical Endometrioid Adenocarcinoma 16
936 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 16
937 c LYM146 Lymphatic Malformation 2 16
938 c PST093 Posterior Hypospadias 16
939 SPT015 Septate Vagina 16
940 RTV008 Rete Ovarii Benign Neoplasm 15
941 OVR004 Ovary Neuroendocrine Neoplasm 15
942 c PRS003 Prostate Malignant Phyllodes Tumor 15
943 ISL068 Isolated Partial Vaginal Agenesis 15
944 FLL010 Fallopian Tube Leiomyoma 15
945 CRV008 Cervical Basaloid Squamous Cell Carcinoma 15
946 TRN046 Transverse Vaginal Septum 15
947 c MYC055 Mycobacterium Tuberculosis 3 14
948 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
949 CMP079 Complete Septate Uterus 14
950 c MYC054 Mycobacterium Tuberculosis 2 14
951 PSD091 Pseudounicornuate Uterus 14
952 c HYP545 Hypospadias 3, Autosomal 14
953 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
954 VLV049 Vulvar Basal Cell Carcinoma 14
955 CRC040 Carcinosarcoma of the Cervix Uteri 14
956 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
957 SCR014 Scrotum Basal Cell Carcinoma 13
958 SQM012 Squamous Cell Carcinoma of the Corpus Uteri 12
959 46X015 46,xy Ovotesticular Disorder of Sex Development 12
960 TRN045 True Unicornuate Uterus 12
961 PNS005 Penis Mixed Squamous Cell Carcinoma 12
962 TST019 Testis Sarcoma 12
963 FLL014 Fallopian Tube Transitional Cell Carcinoma 12
964 UND002 Undifferentiated Carcinoma of the Corpus Uteri 12
965 FLL025 Fallopian Tube Benign Neoplasm 11
966 OVR020 Ovarian Wilms' Cancer 11
967 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
968 RRT013 Rare Uterine Cancer 10
969 END027 Endometrial Mixed Adenocarcinoma 10
970 PRM193 Primary Non-Gestational Choriocarcinoma of Ovary 10
971 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
972 c SCN039 Secondary Central Precocious Puberty 10
973 FLL024 Fallopian Tube Adenofibroma 9
974 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
975 SRC005 Sarcomatoid Penile Squamous Cell Carcinoma 9
976 VGN002 Vagina Leiomyoma 9
977 CWP002 Cowper Gland Carcinoma 8
978 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
979 PNS011 Penis Verrucous Carcinoma 8
980 MLG017 Malignant Tumor of Undescended Testis 8
981 FLL007 Fallopian Tube Leiomyosarcoma 8
982 UTR041 Uterine Ligament Cancer 8
983 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 8
984 UTR026 Uterine Corpus Endometrial Stromal Sarcoma 7
985 c RRP025 Rare Precocious Puberty 7
986 BRT010 Bartholin's Gland Transitional Cell Carcinoma 7
987 RTV002 Rete Ovarii Adenocarcinoma 7
988 FLL030 Fallopian Tube Germ Cell Cancer 7
989 P ADL024 Adult Central Nervous System Choriocarcinoma 7
990 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
991 VLV007 Vulvar Inverted Follicular Keratosis 7
992 UNC003 Unicervical Bicornuate Uterus 7
993 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
994 RRB001 Rare Benign Ovarian Tumor 7
995 CRV007 Cervical Alveolar Soft Part Sarcoma 7
996 TST002 Testicular Brenner Tumor 7
997 MLG117 Malignant Germ Cell Tumor of the Cervix Uteri 7
998 P SYN117 Syndrome with Disorder of Sex Development of Gynecological Interest 7
999 GLN007 Glans Penis Cancer 6
1000 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
1001 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 6
1002 MLG162 Malignant Mixed Epithelial and Mesenchymal Tumor of Cervix Uteri 6
1003 CRV003 Cervical Endometrial Stromal Sarcoma 6
1004 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1005 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
1006 VLL002 Villoglandular Endometrial Endometrioid Adenocarcinoma 6
1007 FLL012 Fallopian Tube Cystadenofibroma 6
1008 VLV037 Vulvar Glandular Tumor 5
1009 FLL002 Fallopian Tube Mucinous Tumor 5
1010 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 5
1011 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 5
1012 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
1013 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
1014 MLG127 Malignant Non-Dysgerminomatous Germ Cell Tumor of Ovary 5
1015 c BNG035 Benign Vaginal Carcinosarcoma 5
1016 UTR060 Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease 5
1017 SGN004 Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma 5
1018 VLV029 Vulvar Eccrine Adenocarcinoma 5
1019 OXY001 Oxyphilic Endometrial Endometrioid Adenocarcinoma 5
1020 SCR004 Secretory Uterine Corpus Endometrioid Adenocarcinoma 5
1021 MCN002 Mucin-Rich Endometrial Endometrioid Adenocarcinoma 5
1022 SRC012 Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma 5
1023 MLG161 Malignant Mixed Epithelial and Mesenchymal Tumor of Corpus Uteri 5
1024 MLG165 Malignant Non-Epithelial Tumor of Ovary 5
1025 BCR004 Bicervical Bicornuate Uterus with Patent Cervix and Vagina 5
1026 LTT003 Littre Gland Carcinoma 5
1027 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
1028 GLS017 Glassy Cell Carcinoma of the Cervix Uteri 5
1029 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1030 TST042 Testicular Pure Germ Cell Tumor 4
1031 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 4
1032 TBL005 Tubular Variant Testicular Seminoma 4
1033 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 4
1034 CRB003 Cribriform Variant Testicular Seminoma 4
1035 SLD001 Solid Pattern Testicular Yolk Sac Tumor 4
1036 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 4
1037 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 4
1038 END026 Endocervical Type Cervical Mucinous Adenocarcinoma 4
1039 PSD013 Pseudoglandular Variant Testicular Seminoma 4
1040 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 4
1041 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 4
1042 c MLN062 Male Infertility with Spermatogenesis Disorder Due to Single Gene Mutation 4
1043 P MLN061 Male Infertility with Spermatogenesis Disorder 4
1044 SXC003 Sex Cord-Stromal Benign Neoplasm 4
1045 PPL042 Papillary Carcinoma of the Corpus Uteri 4
1046 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
1047 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
1048 BNG082 Benign Tumor of Fallopian Tubes 4
1049 c CHR461 Choriocarcinoma of the Central Nervous System 4
1050 c 46X061 46,xy Disorder of Sex Development of Gynecological Interest 3
1051 RRD006 Rare Idiopathic Male Infertility 3
1052 OVR122 Ovarian Sex Cord-Stromal Benign Neoplasm 3
1053 RRD008 Rare Disorder Related with Pregnancy, Childbirth and Puerperium 3
1054 RRV003 Rare Vulvovaginal Tumor 3
1055 HYP849 Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies 3
1056 RRN008 Rare Non-Malformative Uterovaginal or Vulvovaginal Disease 3
1057 GND016 Gonadal Dysgenesis of Gynecological Interest 3
1058 LYD001 Leydig Cell Tumor 45
1059 P PRS040 Prostate Cancer 97
1060 c CWD006 Cowden Syndrome 1 78
1061 P CWD010 Cowden Syndrome 67
1062 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67
1063 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
1064 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 64
1065 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
1066 UTR024 Uterine Carcinosarcoma 59
1067 c HYD046 Hydatidiform Mole, Recurrent, 1 59
1068 VLV032 Vulva Cancer 59
1069 c CLR131 Ciliary Dyskinesia, Primary, 1 59
1070 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 57
1071 c BRS110 Breast-Ovarian Cancer, Familial 1 56
1072 P ACT010 Acth-Secreting Pituitary Adenoma 55
1073 PRP009 Peripartum Cardiomyopathy 55
1074 c RBN022 Robinow Syndrome, Autosomal Recessive 1 54
1075 HLL004 Hellp Syndrome 54
1076 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 53
1077 c BRS111 Breast-Ovarian Cancer, Familial 2 53
1078 END002 Endometrioid Ovary Carcinoma 53
1079 c PTT057 Pituitary Adenoma 4, Acth-Secreting 51
1080 HND004 Hand-Foot-Genital Syndrome 48
1081 TST014 Testicular Cancer 46
1082 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 45
1083 TBR006 Tuberculoid Leprosy 44
1084 TST015 Testicular Disease 43
1085 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42
1086 P ACT244 Acth-Independent Cushing Syndrome 42
1087 c CLR136 Ciliary Dyskinesia, Primary, 9 41
1088 c PRS097 Prostate Cancer, Hereditary, 1 41
1089 WDH003 Woodhouse-Sakati Syndrome 40
1090 48X005 48,xyyy 39
1091 KRK001 Krukenberg Carcinoma 39
1092 ACT245 Acth-Dependent Cushing Syndrome 39
1093 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38
1094 PLC006 Placental Choriocarcinoma 36
1095 RRC011 Rare Cancer of Corpus Uteri 36
1096 ANR018 Anorchia 36
1097 OVR050 Ovarian Embryonal Carcinoma 35
1098 c CLR059 Ciliary Dyskinesia, Primary, 13 35
1099 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 35
1100 c CLR042 Ciliary Dyskinesia, Primary, 6 34
1101 c CLR056 Ciliary Dyskinesia, Primary, 10 34
1102 MCH011 Meacham Syndrome 34
1103 c CLR066 Ciliary Dyskinesia, Primary, 2 34
1104 c PRS114 Prostate Cancer, Hereditary, 2 33
1105 c PRS136 Prostate Cancer, Hereditary, 6 33
1106 CHR076 Choriocarcinoma of the Testis 33
1107 c PRS130 Prostate Cancer, Hereditary, 8 32
1108 EXT025 Extragonadal Germ Cell Cancer 32
1109 FLL003 Fallopian Tube Endometrioid Adenocarcinoma 32
1110 c CLR106 Ciliary Dyskinesia, Primary, 26 32
1111 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 31
1112 c RRM003 Rare Malignant Breast Tumor 31
1113 FLL015 Fallopian Tube Serous Adenocarcinoma 31
1114 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 30
1115 c CWD008 Cowden Syndrome 6 30
1116 VGN014 Vagina Sarcoma 29
1117 c CLR116 Ciliary Dyskinesia, Primary, 29 29
1118 c CLR069 Ciliary Dyskinesia, Primary, 8 29
1119 c CLR067 Ciliary Dyskinesia, Primary, 4 29
1120 c CLR134 Ciliary Dyskinesia, Primary, 3 29
1121 c BRS098 Breast-Ovarian Cancer, Familial 4 28
1122 c CLR102 Ciliary Dyskinesia, Primary, 17 28
1123 FLL022 Fallopian Tube Clear Cell Adenocarcinoma 28
1124 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 28
1125 c CLR104 Ciliary Dyskinesia, Primary, 15 28
1126 c CLR053 Ciliary Dyskinesia, Primary, 11 28
1127 BRD005 Borderline Leprosy 27
1128 c CWD004 Cowden Syndrome 5 27
1129 c CLR135 Ciliary Dyskinesia, Primary, 7 27
1130 48X001 48, Xxxx 27
1131 c CLR091 Ciliary Dyskinesia, Primary, 14 27
1132 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
1133 END015 Endometrial Adenosquamous Carcinoma 27
1134 TST003 Testicular Leukemia 27
1135 c CLR123 Ciliary Dyskinesia, Primary, 37 27
1136 c CWD009 Cowden Syndrome 7 26
1137 P RCR026 Recurrent Hydatidiform Mole 26
1138 c CLR097 Ciliary Dyskinesia, Primary, 23 26
1139 c CLR125 Ciliary Dyskinesia, Primary, 33 26
1140 APR009 Aprosencephaly Syndrome 26
1141 c CLR114 Ciliary Dyskinesia, Primary, 30 26
1142 VNS015 Van Esch-O'driscoll Syndrome 26
1143 c CLR094 Ciliary Dyskinesia, Primary, 28 26
1144 BRT045 Bartholin's Gland Benign Neoplasm 26
1145 NNG002 Non-Gestational Ovarian Choriocarcinoma 25
1146 c PRS071 Prostate Cancer, Hereditary, 13 25
1147 c CLR092 Ciliary Dyskinesia, Primary, 18 25
1148 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
1149 c BRS088 Breast-Ovarian Cancer, Familial 3 25
1150 c CLR140 Ciliary Dyskinesia, Primary, 40 25
1151 c CLR098 Ciliary Dyskinesia, Primary, 27 25
1152 c CLR117 Ciliary Dyskinesia, Primary, 32 25
1153 c CLR068 Ciliary Dyskinesia, Primary, 5 25
1154 48X002 48,xxxy Syndrome 24
1155 c CLR099 Ciliary Dyskinesia, Primary, 16 24
1156 c PRS117 Prostate Cancer, Hereditary, 11 24
1157 c CLR090 Ciliary Dyskinesia, Primary, 22 24
1158 c CLR105 Ciliary Dyskinesia, Primary, 20 24
1159 c PRS134 Prostate Cancer, Hereditary, 3 24
1160 c CLR139 Ciliary Dyskinesia, Primary, 39 24
1161 PNS002 Penis Carcinoma in Situ 24
1162 c CLR054 Ciliary Dyskinesia, Primary, 12 23
1163 c CLR138 Ciliary Dyskinesia, Primary, 38 23
1164 DFN313 Deafness-Hypogonadism Syndrome 23
1165 c CLR101 Ciliary Dyskinesia, Primary, 25 23
1166 c CLR107 Ciliary Dyskinesia, Primary, 24 23
1167 c HYD041 Hydatidiform Mole, Recurrent, 2 23
1168 c CLR142 Ciliary Dyskinesia, Primary, 42 22
1169 c PRS070 Prostate Cancer, Hereditary, 12 22
1170 c CLR144 Ciliary Dyskinesia, Primary, 44 22
1171 c PRS080 Prostate Cancer, Hereditary, 7 22
1172 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1173 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
1174 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1175 c PRS135 Prostate Cancer, Hereditary, 4 22
1176 c CWD005 Cowden Syndrome 4 21
1177 c CLR143 Ciliary Dyskinesia, Primary, 43 21
1178 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1179 PDT023 Pediatric Testicular Germ Cell Tumor 20
1180 c CLR141 Ciliary Dyskinesia, Primary, 41 20
1181 FLL017 Fallopian Tube Squamous Cell Carcinoma 18
1182 c HYD067 Hydatidiform Mole, Recurrent, 3 18
1183 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
1184 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1185 c PRS081 Prostate Cancer, Hereditary, 9 17
1186 c HYD068 Hydatidiform Mole, Recurrent, 4 16
1187 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
1188 c TST017 Testicular Malignant Germ Cell Cancer 16
1189 c PRS074 Prostate Cancer, Hereditary, 10 15
1190 c PRS079 Prostate Cancer, Hereditary, 5 14
1191 P BNG020 Benign Prostate Phyllodes Tumor 13
1192 c PRS076 Prostate Cancer, Hereditary, 15 13
1193 c PRS075 Prostate Cancer, Hereditary, 14 12
1194 FLL011 Fallopian Tube Gestational Choriocarcinoma 12
1195 FLL016 Fallopian Tube Papillary Adenocarcinoma 11
1196 PRR005 Paraurethral Gland Cancer 10
1197 RND001 Round Ligament Malignant Neoplasm 8
1198 SLV014 Salivary Gland Type Cancer of the Breast 8
1199 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1200 BRD006 Broad Ligament Malignant Neoplasm 8
1201 GNC009 Gonococcal Seminal Vesiculitis 8
1202 UTR040 Uterine Ligament Adenocarcinoma 8
1203 PLM023 Pulmonary Artery Choriocarcinoma 7
1204 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1205 CHL042 Childhood Choriocarcinoma of the Testis 7
1206 PDT011 Pediatric Cns Choriocarcinoma 7
1207 FLL001 Fallopian Tube Mucinous Adenocarcinoma 7
1208 BRT003 Bartholin's Gland Small Cell Carcinoma 7
1209 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
1210 CHL048 Childhood Teratocarcinoma of the Testis 6
1211 TST006 Testicular Monophasic Choriocarcinoma 6
1212 c RRD011 Rare Disorder with Hypogonadotropic Hypogonadism 6
1213 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1214 TST009 Testis Refractory Cancer 6
1215 P SMN001 Seminal Vesicle Acute Gonorrhea 5
1216 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
1217 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
1218 UTR012 Uterine Ligament Serous Adenocarcinoma 5
1219 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
1220 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
1221 MLG146 Malignant Germ Cell Tumor of the Vagina 5
1222 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1223 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
1224 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
1225 FML007 Familiar Fallopian Tube Carcinoma 4
1226 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1227 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1228 RRV001 Rare Variants of Adenocarcinoma of the Corpus Uteri 4
1229 RRD028 Rare Disorder with Obstructive Azoospermia 4
1230 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 3
1231 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 3
1232 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1233 RRN007 Rare Non-Malformative Gynecologic or Obstetric Disease 3
1234 RRV004 Rare Vaginal Malformation 3
1235 GNT003 Genital Herpes 54
1236 CYS001 Cystic Fibrosis 81
1237 CRV035 Cervical Cancer 76
1238 END057 Endometrial Cancer 74
1239 LPT014 Leptin Deficiency or Dysfunction 74
1240 ACR007 Acromegaly 71
1241 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
1242 MCC012 Mccune-Albright Syndrome 70
1243 P LPR021 Leprosy 3 69
1244 P TRN020 Turner Syndrome 67
1245 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66
1246 ADR054 Adrenocortical Carcinoma, Hereditary 66
1247 CRC021 Carcinosarcoma 62
1248 LMY014 Leiomyoma, Uterine 56
1249 ORL005 Oral Candidiasis 56
1250 PSD021 Pseudovaginal Perineoscrotal Hypospadias 55
1251 FRS002 Frasier Syndrome 55
1252 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 54
1253 ARM004 Aromatase Excess Syndrome 48
1254 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 47
1255 CHR074 Choriocarcinoma 47
1256 P ATM019 Autoimmune Polyendocrine Syndrome 46
1257 END031 Endometrial Stromal Sarcoma 46
1258 LRN001 Laurence-Moon Syndrome 45
1259 PLR023 Polr3-Related Leukodystrophy 45
1260 ECT093 Ectopic Cushing Syndrome 42
1261 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 41
1262 49X006 49, Xxxxy Syndrome 41
1263 BSM002 Bosma Arhinia Microphthalmia Syndrome 41
1264 TST004 Testicular Lymphoma 39
1265 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 39
1266 HYP344 Hyperthyroidism, Familial Gestational 39
1267 TST018 Testicular Yolk Sac Tumor 39
1268 46X012 46,xy Partial Gonadal Dysgenesis 37
1269 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 37
1270 c LPR022 Leprosy 2 37
1271 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 36
1272 GST052 Gestational Choriocarcinoma 36
1273 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1274 BCK005 Becker Nevus Syndrome 33
1275 EMB006 Embryonal Testis Carcinoma 31
1276 DFN039 Deafness-Infertility Syndrome 29
1277 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 27
1278 INT041 Intratubular Embryonal Carcinoma 25
1279 DTH005 Diethylstilbestrol Syndrome 25
1280 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 23
1281 P SYN140 Syndrome with 46,xy Disorder of Sex Development 23
1282 c LPR023 Leprosy 1 22
1283 c PSD047 Pseudo-Turner Syndrome 21
1284 c LPR017 Leprosy 5 19
1285 c 46X060 46,xx Disorder of Sex Development 18
1286 c LPR016 Leprosy 4 16
1287 c LPR020 Leprosy 6 16
1288 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
1289 RRG074 Rare Gynecological Tumor 16
1290 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1291 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1292 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 14
1293 XLN112 X-Linked Intellectual Disability, Cilliers Type 13
1294 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 11
1295 CHL043 Childhood Embryonal Testis Carcinoma 8
1296 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
1297 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1298 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1299 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1300 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
1301 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1302 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
1303 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
1304 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1305 P NNN008 Noonan Syndrome 1 76
1306 AND002 Androgen Insensitivity Syndrome 66
1307 P BRD002 Bardet-Biedl Syndrome 66
1308 P CMP005 Campomelic Dysplasia 64
1309 c BRD010 Bardet-Biedl Syndrome 1 62
1310 ULN003 Ulnar-Mammary Syndrome 57
1311 c BRD011 Bardet-Biedl Syndrome 10 53
1312 c BRD014 Bardet-Biedl Syndrome 2 52
1313 c BRD012 Bardet-Biedl Syndrome 11 51
1314 c BRD020 Bardet-Biedl Syndrome 8 50
1315 c BRD018 Bardet-Biedl Syndrome 6 49
1316 c NNN010 Noonan Syndrome 3 49
1317 c BRD015 Bardet-Biedl Syndrome 3 48
1318 c BRD032 Bardet-Biedl Syndrome 14 47
1319 c BRD047 Bardet-Biedl Syndrome 16 46
1320 MLL011 Mullerian Aplasia and Hyperandrogenism 46
1321 c BRD016 Bardet-Biedl Syndrome 4 46
1322 c NNN013 Noonan Syndrome 6 45
1323 c BRD013 Bardet-Biedl Syndrome 12 45
1324 c BRD033 Bardet-Biedl Syndrome 13 44
1325 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 44
1326 c NNN011 Noonan Syndrome 4 44
1327 c BRD019 Bardet-Biedl Syndrome 7 43
1328 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 43
1329 c BRD044 Bardet-Biedl Syndrome 17 42
1330 c NNN021 Noonan Syndrome 8 41
1331 c BRD048 Bardet-Biedl Syndrome 18 40
1332 c NNN009 Noonan Syndrome 2 39
1333 c BRD021 Bardet-Biedl Syndrome 9 39
1334 c 46X079 46,xy Sex Reversal 11 39
1335 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 39
1336 c BRD017 Bardet-Biedl Syndrome 5 38
1337 c BRD045 Bardet-Biedl Syndrome 19 37
1338 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 37
1339 c BRD035 Bardet-Biedl Syndrome 15 37
1340 c NNN012 Noonan Syndrome 5 37
1341 c NNN020 Noonan Syndrome 7 36
1342 c LYD012 Leydig Cell Hypoplasia, Type I 36
1343 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 35
1344 c NNN024 Noonan Syndrome 9 33
1345 c NNN025 Noonan Syndrome 10 32
1346 c BRD050 Bardet-Biedl Syndrome 21 29
1347 HYP683 Hypogonadism-Cataract Syndrome 25
1348 c NNN034 Noonan Syndrome 12 24
1349 c BRD051 Bardet-Biedl Syndrome 20 24
1350 c NNN029 Noonan Syndrome 11 24
1351 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1352 c CMP100 Campomelic Dysplasia and Related Disorders 12
1353 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1354 EMB004 Embryonal Carcinoma 56
1355 CHR103 Charge Syndrome 67
1356 HYP020 Hyperprolactinemia 64
1357 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
1358 AND020 Androgen Insensitivity, Partial 56
1359 P INT099 Intrahepatic Cholestasis of Pregnancy 51
1360 MRT007 Martsolf Syndrome 49
1361 SCL046 Scalp-Ear-Nipple Syndrome 49
1362 GLC106 Glucocorticoid Resistance, Generalized 48
1363 BRT059 Bartsocas-Papas Syndrome 46
1364 BCH003 Boucher-Neuhauser Syndrome 40
1365 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38
1366 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1367 MNT030 Mental Retardation Syndrome, Belgian Type 18
1368 P PRM011 Primary Ciliary Dyskinesia 69
1369 SCH071 Schaaf-Yang Syndrome 54
1370 ARM001 Aromatase Deficiency 54
1371 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50
1372 P PRR025 Perrault Syndrome 41
1373 c PRR020 Perrault Syndrome 1 32
1374 c PRR024 Perrault Syndrome 3 25
1375 c PRR021 Perrault Syndrome 4 24
1376 c PRR022 Perrault Syndrome 2 24
1377 c PRR026 Perrault Syndrome 5 23
1378 c PRR033 Perrault Syndrome 6 19
1379 c MYT021 Myotonic Dystrophy 1 69
1380 P RBL001 Rubella 59
1381 P PRD006 Prader-Willi Syndrome 59
1382 DNY001 Denys-Drash Syndrome 57
1383 GRD009 Gordon Holmes Syndrome 51
1384 P MYT002 Myotonic Dystrophy 49
1385 c CNG124 Congenital Rubella 45
1386 STY001 Satoyoshi Syndrome 30
1387 P GLC113 Galactosemia I 64
1388 c GLC112 Galactosemia Iii 56
1389 c GLC111 Galactosemia Ii 46
1390 c GLC115 Galactosemia Iv 20



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