Reproductive Diseases Category (1681 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 58
2 P LSS037 Lissencephaly, X-Linked, 2 53
3 c LSS036 Lissencephaly, X-Linked, 1 48
4 HYP856 Hypothyroidism, Central, with Testicular Enlargement 37
5 NNS149 Nonsyndromic 46,xx Testicular Disorders/differences of Sex Development 16
6 VGN024 Vagina, Absence of 20
7 GRN022 Granulosa Cell Tumor of the Ovary 22
8 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 18
9 P PLV020 Pelvic Organ Prolapse 62
10 P SYN140 Syndrome with 46,xy Disorder of Sex Development 38
11 c PLV014 Pelvic Organ Prolapse 2 10
12 P RBN002 Robinow Syndrome 60
13 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 32
14 OVR073 Ovarian Remnant Syndrome 18
15 c 46X057 46,xy Sex Reversal 8 35
16 c 46X081 46,xx Sex Reversal 35
17 PNS015 Penoscrotal Transposition 28
18 P FRN036 Frontonasal Dysplasia 1 55
19 PNS014 Penis Agenesis 39
20 c FRN033 Frontonasal Dysplasia 2 37
21 c FRN032 Frontonasal Dysplasia 3 29
22 RNL112 Renal, Genital, and Middle Ear Anomalies 23
23 ADN028 Adenosarcoma of the Uterus 19
24 c SX2003 Six2-Related Frontonasal Dysplasia 17
25 NNR008 Non-Recovering Obstetric Brachial Plexus Lesion 7
26 c PLY105 Polycystic Ovary Syndrome 1 43
27 TST043 Testicular Seminoma 34
28 MCK005 Mckusick-Kaufman Syndrome 60
29 TRC003 Trichomoniasis 53
30 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 48
31 YCH001 Y Chromosome Infertility 27
32 OVR035 Ovary Leiomyosarcoma 26
33 MYT025 Myotubular Myopathy with Abnormal Genital Development 22
34 c SPR191 Spermatogenic Failure 74 21
35 MCH007 Meacham Winn Culler Syndrome 16
36 FLR004 Florid Cystic Endosalpingiosis of the Uterus 10
37 OVR023 Ovary Rhabdomyosarcoma 6
38 LST001 Listeriosis 58
39 c ACR128 Acromesomelic Dysplasia 1 53
40 P DSR090 Disorder of Sexual Development 52
41 c ACR125 Acromesomelic Dysplasia 2a 49
42 c RBN018 Robinow Syndrome, Autosomal Dominant 1 49
43 c ACR126 Acromesomelic Dysplasia 2c 42
44 c ATS082 Autosomal Dominant Robinow Syndrome 42
45 c ACR127 Acromesomelic Dysplasia 2b 41
46 AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 38
47 P ACR016 Acromesomelic Dysplasia 38
48 c ACR129 Acromesomelic Dysplasia 3 32
49 c TST046 Testicular Germ Cell Tumor 1 32
50 c RBN023 Robinow Syndrome, Autosomal Recessive 2 27
51 c ACR130 Acromesomelic Dysplasia 4 23
52 c 46X011 46, Xy Disorders of Sexual Development 23
53 HRR005 Harrod Syndrome 22
54 c RR2001 Ror2-Related Robinow Syndrome 13
55 FCT031 Faciothoracogenital Syndrome 13
56 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 10
57 BRN052 Brenner Tumor of the Vagina 4
58 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 3
59 GNT136 Genetic Disorder of Sex Development of Gynecological Interest 3
60 RRG007 Rare Genetic Gynecological and Obstetrical Diseases 3
61 CHL123 Chlamydia 57
62 c RBN022 Robinow Syndrome, Autosomal Recessive 1 56
63 LCH016 Lichen Sclerosus Et Atrophicus 47
64 c 46X051 46,xy Sex Reversal 1 45
65 P OCY002 Oocyte Maturation Defect 2 25
66 TST025 Testicular Microlithiasis 24
67 c OCY004 Oocyte Maturation Defect 3 22
68 SHR123 Short Stature and Microcephaly with Genital Anomalies 22
69 c OCY005 Oocyte Maturation Defect 4 20
70 TST035 Testicular Anomalies with or Without Congenital Heart Disease 20
71 c OCY006 Oocyte Maturation Defect 5 18
72 c SPR189 Spermatogenic Failure 72 17
73 c SPR182 Spermatogenic Failure, X-Linked, 4 17
74 c OCY008 Oocyte Maturation Defect 7 17
75 c SPR186 Spermatogenic Failure 69 16
76 c OCY013 Oocyte Maturation Defect 12 16
77 c SPR187 Spermatogenic Failure 70 16
78 c OCY010 Oocyte Maturation Defect 9 16
79 c OCY009 Oocyte Maturation Defect 8 16
80 c SPR185 Spermatogenic Failure 68 16
81 c SPR196 Spermatogenic Failure 77 16
82 c SPR183 Spermatogenic Failure 66 16
83 c SPR184 Spermatogenic Failure 67 15
84 c OCY011 Oocyte Maturation Defect 10 15
85 c OCY012 Oocyte Maturation Defect 11 14
86 P SYP003 Syphilis 60
87 VRC001 Varicocele 45
88 c CNG033 Congenital Syphilis 42
89 ADN020 Adenosarcoma 40
90 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 40
91 c SCN006 Secondary Syphilis 37
92 c PRM022 Primary Syphilis 32
93 ADN014 Adenomatoid Tumor 31
94 c LTC001 Late Congenital Syphilis 31
95 MTH082 Methemoglobinemia and Ambiguous Genitalia 30
96 PNL023 Penile Agenesis 29
97 CRB204 Cerebellar, Ocular, Craniofacial, and Genital Syndrome 28
98 c ERL002 Early Congenital Syphilis 28
99 c SPR188 Spermatogenic Failure 71 18
100 c SPR192 Spermatogenic Failure 75 17
101 c SPR190 Spermatogenic Failure 73 17
102 PRS119 Persistent Genital Arousal Disorder 15
103 BSC006 Buschke-Lowenstein Tumor 14
104 c SPR193 Spermatogenic Failure 76 14
105 ANS023 Anus, Imperforate 58
106 P BRT050 Bartter Syndrome, Type 2, Antenatal 51
107 c BRT052 Bartter Syndrome, Type 1, Antenatal 47
108 PLC007 Placental Abruption 44
109 c BNG093 Benign Teratoma 42
110 HYP784 Hypogonadism, Male 41
111 CHR391 Chromosome 15q24 Deletion Syndrome 38
112 c RBN020 Robinow Syndrome, Autosomal Dominant 3 38
113 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 38
114 c CLR095 Ciliary Dyskinesia, Primary, 19 34
115 GRN005 Granuloma Inguinale 32
116 MSC021 Mosaic Trisomy 9 31
117 DPL007 Duplication of Urethra 28
118 c RNG015 Ring Chromosome 2 23
119 c CLR145 Ciliary Dyskinesia, Primary, 45 22
120 c HTR026 Heterotaxy, Visceral, 9, Autosomal, with Male Infertility 22
121 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 21
122 P HTR027 Heterotaxy, Visceral, 10, Autosomal, with Male Infertility 20
123 c HTR028 Heterotaxy, Visceral, 11, Autosomal, with Male Infertility 20
124 BWN003 Bowenoid Papulosis 19
125 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 12
126 CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 10
127 MCR053 Microcephaly Micropenis Convulsions 8
128 SHV002 Sohval Soffer Syndrome 8
129 BCL015 Baculum, Congenital Absence of 6
130 NNS042 Nonsyndromic Disorders of Testicular Development 5
131 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
132 TMR023 Tumor of Testis and Paratestis 5
133 ANT097 Antley-Bixler Syndrome Without Genital Anomaly or Disorder of Steroidogenesis 4
134 CLL019 Calloso-Genital Dysplasia 4
135 INH033 Inherited Gynecological Cancer-Predisposing Syndrome 3
136 GNT056 Genetic Gynecological Tumor 2
137 FCD001 Facio Digito Genital Syndrome Recessive Form 1
138 P OVR042 Ovarian Cancer 89
139 P TRN020 Turner Syndrome 70
140 P MYC084 Mycobacterium Tuberculosis 1 68
141 c OVR114 Ovarian Cancer 1 65
142 P HYP730 Hypogonadotropic Hypogonadism 60
143 c PRM093 Premature Ovarian Failure 7 59
144 c PRM196 Premature Ovarian Failure 1 59
145 PRM013 Premature Menopause 59
146 BRS051 Breast Disease 57
147 IMP005 Impotence 56
148 AMN001 Amenorrhea 56
149 PRS047 Prostatitis 54
150 HLL004 Hellp Syndrome 53
151 c CNT075 Central Precocious Puberty 52
152 c PSD047 Pseudo-Turner Syndrome 50
153 P TRT010 Teratoma 50
154 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 48
155 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 47
156 PRS045 Prostatic Hypertrophy 47
157 END062 Endometrial Hyperplasia 47
158 P ATM019 Autoimmune Polyendocrine Syndrome 47
159 P HYP078 Hypertrophy of Breast 47
160 P CRV039 Cervicitis 46
161 P PRC019 Precocious Puberty 46
162 c MLG081 Malignant Teratoma 45
163 P END046 Endometritis 44
164 P SLP003 Salpingitis 44
165 ORC001 Orchitis 44
166 END080 Endometrial Disease 42
167 PRS021 Prostatic Adenoma 42
168 c CLR094 Ciliary Dyskinesia, Primary, 28 41
169 P BRT062 Bartsocas-Papas Syndrome 1 40
170 EST004 Estrogen Excess 40
171 c FML353 Familial Ovarian Cancer 40
172 SRT002 Sertoli Cell Tumor 38
173 PRG014 Progesterone Resistance 38
174 PHM001 Phimosis 38
175 c CLR091 Ciliary Dyskinesia, Primary, 14 38
176 BLN010 Balanitis 37
177 CRV069 Cervix Disease 37
178 OLG022 Oligoasthenoteratozoospermia 36
179 LTM002 Luteoma 34
180 CRV028 Cervical Adenosarcoma 34
181 CRV025 Cervical Incompetence 34
182 MSC020 Mosaic Trisomy 8 34
183 c PRC046 Precocious Puberty, Central, 2 33
184 c PRM368 Premature Ovarian Failure 19 33
185 GRN033 Granulomatous Mastitis 33
186 c RNG008 Ring Chromosome 13 33
187 c RNG023 Ring Chromosome 7 33
188 TYL001 Taylor's Syndrome 32
189 VLV008 Vulvitis 32
190 PNL013 Penile Disease 31
191 EPD018 Epididymo-Orchitis 31
192 BLN009 Balanoposthitis 31
193 TWN015 Twin-Reversed Arterial Perfusion Sequence 31
194 c PRC047 Precocious Puberty, Central, 1 30
195 3MC004 3mc Syndrome 3 30
196 c ADL057 Adult Teratoma 29
197 VSD001 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 29
198 PRP013 Paraphimosis 29
199 c CLR059 Ciliary Dyskinesia, Primary, 13 29
200 OVR002 Ovarian Serous Cystadenofibroma 29
201 INF025 Infected Hydrocele 29
202 DMD001 Demodicidosis 29
203 EXH001 Exhibitionism 28
204 c PRM192 Premature Ovarian Failure 8 28
205 INH002 Inhibited Male Orgasm 28
206 c CLR136 Ciliary Dyskinesia, Primary, 9 28
207 GRN001 Granulomatous Endometritis 28
208 c PRM090 Premature Ovarian Failure 6 28
209 c PRM089 Premature Ovarian Failure 3 28
210 c PRM094 Premature Ovarian Failure 5 28
211 c PRM207 Premature Ovarian Failure 10 28
212 CHR010 Chorioangioma 27
213 c CHR018 Chronic Salpingo-Oophoritis 27
214 ACT048 Acute Gonococcal Cervicitis 27
215 INV018 Invasive Mole 27
216 c CLR092 Ciliary Dyskinesia, Primary, 18 27
217 c CHR085 Chronic Cervicitis 27
218 OVR098 Ovarian Fibroma 27
219 c PRM091 Premature Ovarian Failure 2b 26
220 c PRM254 Premature Ovarian Failure 11 26
221 SLP002 Salpingitis Isthmica Nodosa 26
222 PGD001 Pagod Syndrome 26
223 PRS007 Prostate Calculus 26
224 VLV019 Vulvar Syringoma 26
225 c ACT066 Acute Cervicitis 26
226 PRS022 Prostate Leiomyoma 26
227 c PRM253 Premature Ovarian Failure 13 26
228 CRV006 Cervix Endometriosis 26
229 HYM002 Hymen, Imperforate 26
230 TBR002 Tuberculous Salpingitis 26
231 c ACT069 Acute Endometritis 25
232 FBR016 Fibrosclerosis of Breast 25
233 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 24
234 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 24
235 PRT086 Partial Hydatidiform Mole 24
236 EPD088 Epididymis Disease 24
237 c PRM292 Premature Ovarian Failure 14 24
238 c CNG562 Congenital Hypogonadotropic Hypogonadism 23
239 c PRM349 Premature Ovarian Failure 18 23
240 CRV010 Cervix Erosion 23
241 c CHR099 Chronic Salpingitis 23
242 c PRM191 Premature Ovarian Failure 9 23
243 UTR028 Uterine Corpus Adenosarcoma 23
244 c BRT063 Bartsocas-Papas Syndrome 2 23
245 P SLP004 Salpingo-Oophoritis 23
246 PRT028 Paratesticular Lipoma 22
247 RTV004 Rete Ovarii Adenoma 22
248 RHB019 Rhabdomyosarcoma of the Cervix Uteri 22
249 c INT005 Intermediate Malignant Teratoma 22
250 c FML266 Female Infertility Due to Zona Pellucida Defect 22
251 P PRM176 Premature Ovarian Failure 2a 22
252 c BNG029 Benign Struma Ovarii 22
253 RTT003 Rete Testis Adenoma 22
254 MCN010 Mucinous Cystadenofibroma 22
255 PYS001 Pyosalpinx 22
256 PRS005 Prostate Angiosarcoma 21
257 INH003 Inhibited Female Orgasm 21
258 c PRM255 Premature Ovarian Failure 12 21
259 CHL180 Childhood Ovarian Dysgerminoma 21
260 PRM008 Parametritis 21
261 VLV015 Vulvar Dystrophy 21
262 OVR097 Ovarian Fibrothecoma 21
263 END016 Endocervicitis 21
264 c ACT081 Acute Salpingitis 20
265 PYM002 Pyometritis 20
266 PRS014 Prostatic Cyst 20
267 VLV026 Vulvar Leiomyosarcoma 20
268 c PRM295 Premature Ovarian Failure 15 20
269 FTN001 Fat Necrosis of Breast 20
270 c HYP678 Hypertrophy of the Breast, Juvenile 20
271 c CHR017 Chronic Gonococcal Salpingitis 20
272 OMP008 Omphalocele-Cleft Palate Syndrome, Lethal 20
273 PRS032 Prostate Leiomyosarcoma 20
274 MLN056 Male Infertility with Teratozoospermia Due to Single Gene Mutation 20
275 c PRM378 Premature Ovarian Failure 20 20
276 ATR007 Atrophic Vulva 19
277 c PRM348 Premature Ovarian Failure 17 19
278 OVR037 Ovarian Solid Teratoma 18
279 CMP016 Camptobrachydactyly 18
280 c HYD067 Hydatidiform Mole, Recurrent, 3 18
281 c OCY007 Oocyte Maturation Defect 6 18
282 RHB018 Rhabdomyosarcoma of the Corpus Uteri 18
283 c PRM344 Premature Ovarian Failure 16 18
284 P OVR052 Ovarian Endometrioid Adenofibroma 17
285 OVR008 Ovarian Mucinous Cystadenofibroma 17
286 ADN061 Adenosarcoma of the Cervix Uteri 17
287 MCR379 Microcystic Stromal Tumor 17
288 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 17
289 c PRM355 Primary Ovarian Insufficiency 6 16
290 NDL006 Nodular Prostate 16
291 KR001 Koro 16
292 VLV012 Vulvar Granular Cell Tumor 16
293 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 16
294 VLV045 Vulvovaginal Rhabdomyosarcoma 15
295 OVR038 Ovarian Fetiform Teratoma 15
296 DRT001 Dartoic Leiomyoma 15
297 c MYC055 Mycobacterium Tuberculosis 3 14
298 ACR040 Acromelanosis 14
299 CRV032 Cervical Adenomyoma 14
300 ATR008 Atrophy of Prostate 14
301 ULC001 Ulceration of Vulva 14
302 PRS020 Prostatocystitis 14
303 CHR197 Chromosome 15, Trisomy Mosaicism 13
304 ATY026 Atypical Meigs Syndrome 13
305 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 13
306 c MYC054 Mycobacterium Tuberculosis 2 13
307 UTR010 Uterine Cervix Leukoplakia 12
308 P ACT023 Acute Gonococcal Salpingitis 11
309 VLV040 Vulvar Squamous Papilloma 11
310 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 11
311 FML002 Female Infertility of Uterine Origin 11
312 VLV014 Vulva Fibroepithelial Polyp 11
313 PRN004 Perineocele 10
314 ACT024 Acute Gonococcal Prostatitis 10
315 OVR031 Ovarian Papillary Cystadenoma 10
316 CRV023 Cervical Adenofibroma 10
317 PRC053 Precocious Puberty in Female 9
318 END009 Endometriosis of Pelvic Peritoneum 9
319 ACT039 Acute Gonococcal Epididymo-Orchitis 9
320 c CPR005 Cpe-Related Prader-Willi-Like Syndrome 9
321 UTR059 Uterovaginal Malformation 9
322 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9
323 LTR006 Lateral Cystocele 9
324 CHR721 Chronic Intervillositis of Unknown Etiology 9
325 MDL004 Midline Cystocele 8
326 ISL100 Isolated Congenital Breast Hypoplasia/aplasia 7
327 c RRP025 Rare Precocious Puberty 7
328 UTR036 Uterine Corpus Leiomyomatosis 7
329 VLV007 Vulvar Inverted Follicular Keratosis 7
330 TST008 Testis Polyembryoma 6
331 GNT034 Giant Adenofibroma of the Breast 6
332 c ACQ064 Acquired Premature Ovarian Failure 6
333 NNS001 Non Specific Chronic Endometritis 6
334 END023 Endocervical Type Cervical Adenomyoma 6
335 UTR018 Uterine Corpus Bizarre Leiomyoma 6
336 MKT001 Mikati-Najjar-Sahli Syndrome 6
337 CHR030 Chronic Gonorrhea of Cervix 6
338 OVR036 Ovarian Endometrioid Cystadenofibroma 6
339 END022 Endometrial Type Cervical Adenomyoma 6
340 c INF020 Infertility Due to Extratesticular Cause 6
341 ADN019 Adenomyoma of Uterine Corpus 5
342 UTR015 Uterine Corpus Myxoid Leiomyoma 5
343 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
344 VLV022 Vulvar Trichoepithelioma 5
345 RTV003 Rete Ovarii Cystadenofibroma 5
346 CRV041 Cervix Endometrial Stromal Tumor 5
347 P SMN001 Seminal Vesicle Acute Gonorrhea 5
348 UTR017 Uterine Corpus Dissecting Leiomyoma 5
349 HYP033 Hypertrophic Elongation of Cervix 4
350 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
351 c PRM356 Primary Ovarian Insufficiency 7 4
352 c SMN004 Seminal Vesicle Chronic Gonorrhea 4
353 UTR003 Uterine Corpus Diffuse Leiomyomatosis 4
354 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
355 ADN059 Adenosarcoma of the Corpus Uteri 4
356 c PRM351 Primary Ovarian Insufficiency 2b 4
357 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
358 ANM050 Anomaly of Puberty or/and Menstrual Cycle 4
359 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
360 TMX001 Tamoxifen-Related Endometrial Lesion 3
361 DFC007 Deficient Breast Volume or Number 3
362 SYN099 Syndromic Breast Hypoplasia/aplasia 3
363 END089 Endocrinopathy with Congenital Hypogonadotropic Hypogonadism As a Major Feature 3
364 c PNL017 Penile Cancer, Adult 28
365 MRB006 Morbid Obesity and Spermatogenic Failure 22
366 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 23
367 MGC006 Magic Syndrome 15
368 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 15
369 ADN086 Adenocarcinoma of the Penis 12
370 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 33
371 MLG163 Malignant Tumor of Penis 30
372 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 20
373 CYT014 Cytochrome P450 Oxidoreductase Deficiency 41
374 ORL005 Oral Candidiasis 55
375 CLC011 Cloacal Exstrophy 44
376 UTR043 Uterine Sarcoma 41
377 EXT025 Extragonadal Germ Cell Cancer 33
378 LMB076 Lumbar Syndrome 27
379 RB1001 Rab18 Deficiency 20
380 CLB004 Calabro Syndrome 5
381 P INT099 Intrahepatic Cholestasis of Pregnancy 56
382 PGM001 Pigmented Villonodular Synovitis 50
383 DBW001 Dubowitz Syndrome 48
384 c RBN017 Robinow Syndrome, Autosomal Dominant 2 43
385 c CLR068 Ciliary Dyskinesia, Primary, 5 43
386 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 42
387 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 41
388 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 37
389 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 36
390 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 31
391 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 30
392 DPH012 Diphallia 28
393 APR009 Aprosencephaly Syndrome 27
394 P NNP004 Nonphotosensitive Trichothiodystrophy 23
395 PRP011 Puerperal Pulmonary Embolism 23
396 c TRC127 Trichothiodystrophy 8, Nonphotosensitive 22
397 MCD004 Macdermot-Winter Syndrome 20
398 c TRC128 Trichothiodystrophy 9, Nonphotosensitive 19
399 BNG041 Benign Metastasizing Leiomyoma 18
400 GRN023 Green Sandford Davison Syndrome 7
401 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
402 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
403 P RRF012 Rare Female Infertility 6
404 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
405 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
406 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 4
407 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 4
408 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 4
409 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
410 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
411 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
412 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
413 RRG035 Rare Genetic Disorder with Obstructive Azoospermia 3
414 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
415 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
416 P PRS040 Prostate Cancer 97
417 c CNG411 Congenital Disorder of Glycosylation, Type in 67
418 c PRC016 Pre-Eclampsia 65
419 OVR029 Ovarian Hyperstimulation Syndrome 65
420 P PRD006 Prader-Willi Syndrome 62
421 P KLL001 Kallmann Syndrome 61
422 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
423 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 60
424 P MLN007 Male Infertility 59
425 P INF032 Infertility 59
426 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
427 P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
428 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 58
429 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 57
430 PRT082 Preterm Premature Rupture of the Membranes 56
431 VGN023 Vaginitis 55
432 OVR012 Ovarian Serous Cystadenocarcinoma 54
433 P UTR058 Uterine Anomalies 53
434 MST005 Mastitis 53
435 AZS001 Azoospermia 53
436 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
437 SCL046 Scalp-Ear-Nipple Syndrome 52
438 P ECL001 Eclampsia 52
439 P OVR049 Ovarian Disease 52
440 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
441 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 51
442 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
443 P PRS049 Persistent Mullerian Duct Syndrome 51
444 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 50
445 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 50
446 VLV011 Vulvovaginal Candidiasis 50
447 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 50
448 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
449 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
450 VGN020 Vaginal Disease 48
451 c PYR010 Peyronie's Disease 48
452 P OVR046 Ovarian Cyst 48
453 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
454 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
455 P CRV031 Cervical Adenocarcinoma 48
456 KRT010 Kartagener Syndrome 48
457 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
458 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
459 END031 Endometrial Stromal Sarcoma 47
460 VGN019 Vaginal Discharge 47
461 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
462 MLL011 Mullerian Aplasia and Hyperandrogenism 47
463 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
464 ANV001 Anovulation 46
465 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
466 HYD005 Hydrocele 46
467 c SVR005 Severe Pre-Eclampsia 46
468 P OVR076 Ovarian Dysgenesis 2 46
469 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
470 VLV036 Vulvar Disease 46
471 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
472 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
473 PST029 Postmenopausal Atrophic Vaginitis 45
474 c CRV002 Cervix Uteri Carcinoma in Situ 45
475 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
476 PSD009 Pseudohermaphroditism 45
477 OLG001 Oligospermia 44
478 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
479 UTR033 Uterine Corpus Cancer 44
480 GND001 Gonadoblastoma 44
481 URT004 Urethral Syndrome 43
482 P OVR106 Ovarian Clear Cell Carcinoma 43
483 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
484 c MLG049 Malignant Syringoma 42
485 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
486 P LPR012 Leopard Syndrome 1 42
487 SMN007 Seminoma 42
488 c CNG379 Congenital Disorder of Glycosylation, Type It 42
489 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
490 c CLR134 Ciliary Dyskinesia, Primary, 3 42
491 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
492 ADH001 Adhesions of Uterus 41
493 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
494 c PRS136 Prostate Cancer, Hereditary, 6 41
495 SRT003 Sertoli-Leydig Cell Tumor 41
496 c PRS130 Prostate Cancer, Hereditary, 8 41
497 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
498 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40
499 FLL029 Fallopian Tube Disease 40
500 PRS042 Prostate Disease 40
501 P SPR119 Spermatogenic Failure, X-Linked, 1 40
502 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
503 c HYP881 Hypogonadotropic Hypogonadism 24 with or Without Anosmia 40
504 PLC009 Placenta Praevia 40
505 VLV010 Vulvovaginitis 40
506 PRM020 Premenstrual Tension 40
507 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
508 c OVR075 Ovarian Dysgenesis 1 40
509 END075 Endocervical Adenocarcinoma 39
510 OVR105 Ovarian Serous Carcinoma 39
511 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 39
512 END007 Endosalpingiosis 39
513 PRT049 Partial Deletion of Y 39
514 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 39
515 c CLR066 Ciliary Dyskinesia, Primary, 2 38
516 P PYR039 Peyronie Disease 38
517 c SPR089 Spermatogenic Failure 4 38
518 RPR002 Reproductive System Disease 38
519 FML039 Female Reproductive System Disease 38
520 c PRS097 Prostate Cancer, Hereditary, 1 38
521 c LPR011 Leopard Syndrome 2 38
522 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
523 P SYR003 Syringoma 37
524 P SPR062 Spermatogenic Failure 37
525 DFF004 Diffuse Peritoneal Leiomyomatosis 37
526 SPR017 Spermatocele 37
527 c SPR118 Spermatogenic Failure 1 36
528 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
529 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
530 UTR056 Uterine Corpus Endometrial Carcinoma 36
531 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 36
532 HRM002 Hermaphroditism 36
533 MLR007 Male Reproductive System Disease 36
534 c CLR042 Ciliary Dyskinesia, Primary, 6 35
535 c CNG188 Congenital Disorder of Glycosylation, Type if 35
536 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
537 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 35
538 PRS008 Prostate Small Cell Carcinoma 35
539 PRS015 Prostate Signet Ring Cell Adenocarcinoma 34
540 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 34
541 c CLR056 Ciliary Dyskinesia, Primary, 10 34
542 END029 Endocervical Carcinoma 34
543 c CLR101 Ciliary Dyskinesia, Primary, 25 34
544 CRV022 Cervix Small Cell Carcinoma 34
545 c MLG059 Malignant Struma Ovarii 34
546 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
547 c SPR088 Spermatogenic Failure 7 33
548 END032 Endometrial Clear Cell Adenocarcinoma 33
549 ATR009 Atrophy of Testis 33
550 c SPR042 Spermatogenic Failure 8 33
551 c PRS114 Prostate Cancer, Hereditary, 2 33
552 c SPR113 Spermatogenic Failure 18 33
553 EPT003 Epithelioid Trophoblastic Tumor 32
554 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 32
555 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 32
556 END043 Endometrial Stromal Tumor 32
557 GYN002 Gynatresia 31
558 SBM005 Submucous Uterine Fibroid 31
559 P TST016 Testicular Granulosa Cell Tumor 31
560 c SPR092 Spermatogenic Failure, Y-Linked, 1 30
561 P CRV009 Cervix Melanoma 30
562 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
563 VLV044 Vulvar Intraepithelial Neoplasia 30
564 c PRS031 Prostate Carcinoma in Situ 30
565 PRS043 Prostate Rhabdomyosarcoma 30
566 CRP004 Corpus Luteum Cyst 30
567 PRL004 Prolapse of Urethra 30
568 CST007 Castration-Resistant Prostate Carcinoma 30
569 c MLG053 Malignant Ovarian Brenner Tumor 30
570 TTR013 Tetrasomy X 30
571 END018 Endometrium Carcinoma in Situ 30
572 LGN005 Ligneous Conjunctivitis 30
573 CRV068 Cervical Polyp 29
574 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 29
575 EPD014 Epididymis Adenocarcinoma 29
576 VLV009 Vulvar Leiomyoma 29
577 END013 Endometrial Small Cell Carcinoma 29
578 c CLR104 Ciliary Dyskinesia, Primary, 15 29
579 OVR009 Ovarian Gonadoblastoma 29
580 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
581 UTR031 Uterine Benign Neoplasm 29
582 PLY004 Polyp of Corpus Uteri 29
583 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 29
584 BLN002 Balanitis Xerotica Obliterans 29
585 UTR020 Uterine Inversion 28
586 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 28
587 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
588 PRS009 Prostate Stromal Sarcoma 28
589 PRS044 Prostate Sarcoma 28
590 HMM001 Hemometra 28
591 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 28
592 PRS010 Prostate Embryonal Rhabdomyosarcoma 28
593 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 28
594 c LPR007 Leopard Syndrome 3 28
595 GST035 Gestational Ovarian Choriocarcinoma 28
596 OVR017 Ovarian Cystic Teratoma 28
597 TBR003 Tuberculous Epididymitis 28
598 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
599 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
600 c MLN078 Male Infertility Due to Acephalic Spermatozoa 27
601 VSC004 Vasculogenic Impotence 27
602 PRM087 Premature Chromatid Separation Trait 27
603 c ACT031 Acute Salpingo-Oophoritis 27
604 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
605 VGN011 Vagina Leiomyosarcoma 27
606 PST103 Postpartum Psychosis 27
607 VLV018 Vulvar Angiokeratoma 26
608 VGN031 Vaginal Atresia 26
609 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
610 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 26
611 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
612 PRS006 Prostatic Acinar Adenocarcinoma 26
613 c CLR053 Ciliary Dyskinesia, Primary, 11 26
614 LPM001 Lipoma of Spermatic Cord 26
615 PLY115 Polyendocrine-Polyneuropathy Syndrome 26
616 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
617 c PRS080 Prostate Cancer, Hereditary, 7 26
618 END003 Endometrial Stromal Nodule 26
619 FRN014 Fournier Gangrene 26
620 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
621 c OCY003 Oocyte Maturation Defect 1 26
622 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 26
623 TWN014 Twin Anemia-Polycythemia Sequence 26
624 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
625 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
626 PRD041 Periodic Fever, Menstrual Cycle-Dependent 25
627 c CLR099 Ciliary Dyskinesia, Primary, 16 25
628 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
629 c SPR116 Spermatogenic Failure 15 25
630 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
631 GYN003 Gynandroblastoma 25
632 c SPR131 Spermatogenic Failure 28 25
633 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
634 c PRS071 Prostate Cancer, Hereditary, 13 25
635 BCR002 Bicornuate Uterus 25
636 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
637 NNG001 Non-Gestational Choriocarcinoma 25
638 c OVR107 Ovarian Dysgenesis 4 25
639 PRS019 Prostate Adenoid Cystic Carcinoma 25
640 c HYP882 Hypogonadotropic Hypogonadism 26 with or Without Anosmia 24
641 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
642 TST007 Testicular Infarct 24
643 MMM002 Mammary-Digital-Nail Syndrome 24
644 MXD024 Mixed Epithelial Tumor of Ovary 24
645 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 24
646 c PRS117 Prostate Cancer, Hereditary, 11 24
647 LKR001 Leukorrhea 24
648 TST012 Testicular Fibroma 24
649 c MYR005 Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 23
650 DFN313 Deafness-Hypogonadism Syndrome 23
651 OVR001 Ovarian Stromal Hyperthecosis 23
652 VLV030 Vulvar Proximal-Type Epithelioid Sarcoma 23
653 VLV038 Vulvar Sarcoma 23
654 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 23
655 OVR109 Ovarian Germ Cell Teratoma 23
656 OVR027 Ovarian Squamous Cell Carcinoma 23
657 BRT014 Bartholin's Duct Cyst 23
658 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
659 VLV039 Vulvar Seborrheic Keratosis 23
660 OVR040 Ovarian Clear Cell Cystadenocarcinoma 23
661 VLV031 Vulva Adenocarcinoma 22
662 c ERL005 Early Invasive Cervical Adenocarcinoma 22
663 MSC081 Mosaic Trisomy 15 22
664 RTV008 Rete Ovarii Benign Neoplasm 22
665 c SPR125 Spermatogenic Failure 23 22
666 TRC121 Trichomonas Vaginalis Trichomoniasis 22
667 c SPR158 Spermatogenic Failure 46 22
668 MCR015 Microinvasive Cervical Squamous Cell Carcinoma 22
669 SPR064 Supernumerary Breasts 22
670 c PRS070 Prostate Cancer, Hereditary, 12 22
671 c SPR115 Spermatogenic Failure 19 22
672 c 46X080 46,xx Sex Reversal 5 22
673 MTR011 Mature Teratoma of the Ovary 22
674 VLV016 Vulvar Apocrine Adenocarcinoma 22
675 c SPR150 Spermatogenic Failure 40 22
676 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 22
677 c OVR102 Ovarian Dysgenesis 3 22
678 c OVR119 Ovarian Dysgenesis 7 22
679 VGN015 Vaginal Adenoma 22
680 CRV020 Cervical Non-Keratinizing Squamous Cell Carcinoma 21
681 WLF006 Wolffian Duct Adenocarcinoma 21
682 VLV004 Vulvar Sebaceous Carcinoma 21
683 LCM001 Li-Campeau Syndrome 21
684 SMN005 Seminal Vesicle Adenocarcinoma 21
685 c SPR143 Spermatogenic Failure 38 21
686 OVR039 Ovarian Mesodermal Adenosarcoma 21
687 VLV046 Vulvovaginal Gingival Syndrome 21
688 c SPR176 Spermatogenic Failure 61 21
689 c SPR140 Spermatogenic Failure 35 21
690 NNS033 Non-Syndromic Male Infertility Due to Sperm Motility Disorder 21
691 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 21
692 UTR030 Uterine Adnexa Cancer 21
693 P BNG020 Benign Prostate Phyllodes Tumor 21
694 CRV014 Cervical Adenoma Malignum 21
695 IDP034 Idiopathic Central Precocious Puberty 21
696 c OVR127 Ovarian Dysgenesis 9 21
697 UNL015 Unilateral Aplasia of the Mullerian Ducts 20
698 c OVR115 Ovarian Dysgenesis 5 20
699 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 20
700 c SPR137 Spermatogenic Failure 34 20
701 c HYP883 Hypogonadotropic Hypogonadism 27 Without Anosmia 20
702 END024 Endometrial Transitional Cell Carcinoma 20
703 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 20
704 GRN002 Granulomatous Orchitis 20
705 c PRS081 Prostate Cancer, Hereditary, 9 20
706 c UTR006 Uterine Inflammatory Disease 20
707 c SPR134 Spermatogenic Failure 31 20
708 c SPR160 Spermatogenic Failure 48 20
709 c SPR136 Spermatogenic Failure 33 20
710 NNC019 Non-Acquired Panhypopituitarism 20
711 EXT063 Extrapelvic Endometriosis 20
712 c PRS134 Prostate Cancer, Hereditary, 3 20
713 c SPR157 Spermatogenic Failure 45 20
714 c SPR087 Spermatogenic Failure 12 20
715 c OVR120 Ovarian Dysgenesis 8 19
716 c ERY072 Erythrokeratodermia Variabilis Et Progressiva 7 19
717 c SPR161 Spermatogenic Failure 49 19
718 BNG025 Benign Mammary Dysplasia 19
719 c PRS135 Prostate Cancer, Hereditary, 4 19
720 OVR056 Ovarian Primitive Germ Cell Tumor 19
721 c SPR180 Spermatogenic Failure 64 19
722 SLC041 Selective Intrauterine Growth Restriction 19
723 c SPR130 Spermatogenic Failure 27 19
724 c OVR118 Ovarian Dysgenesis 6 18
725 c SPR163 Spermatogenic Failure 51 18
726 c SPR155 Spermatogenic Failure, X-Linked, 3 18
727 VLV035 Vulvar Benign Neoplasm 18
728 MYX002 Myxoid Liposarcoma of the Ovary 18
729 ADN007 Adenosquamous Prostate Carcinoma 18
730 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 18
731 LKP001 Leukoplakia of Penis 18
732 c SPR178 Spermatogenic Failure 60 18
733 c MLG033 Malignant Ovarian Cyst 18
734 CTM001 Catamenial Pneumothorax 18
735 c SPR132 Spermatogenic Failure 29 18
736 c OVR128 Ovarian Dysgenesis 10 18
737 c SPR162 Spermatogenic Failure 50 18
738 c SPR096 Spermatogenic Failure 13 18
739 c HYD068 Hydatidiform Mole, Recurrent, 4 18
740 FLL006 Fallopian Tube Endometriosis 17
741 CRV037 Cervical Mucinous Adenocarcinoma 17
742 PRS004 Prostate Squamous Cell Carcinoma 17
743 MLG118 Malignancy Diagnosed During Pregnancy 17
744 UND002 Undifferentiated Carcinoma of the Corpus Uteri 17
745 c KLL005 Kallmann Syndrome 3 17
746 VGN012 Vaginal Adenosarcoma 17
747 c SPR177 Spermatogenic Failure 62 17
748 c KLL007 Kallmann Syndrome 5 17
749 RTV002 Rete Ovarii Adenocarcinoma 17
750 c SPR124 Spermatogenic Failure 22 17
751 SCR005 Scrotum Paget's Disease 16
752 P OVR053 Ovarian Mucinous Adenofibroma 16
753 ACT057 Acute Gonococcal Endometritis 16
754 RTT005 Rete Testis Neoplasm 16
755 CRV024 Cervical Adenoid Basal Carcinoma 16
756 6Q1002 6q16 Microdeletion Syndrome 16
757 SMN002 Seminal Vesicle Cystadenoma 16
758 ISL068 Isolated Partial Vaginal Agenesis 16
759 TST040 Testicular Trophoblastic Tumor 16
760 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 16
761 VLV049 Vulvar Basal Cell Carcinoma 15
762 c SPR170 Spermatogenic Failure 55 15
763 PSD091 Pseudounicornuate Uterus 15
764 c PRS074 Prostate Cancer, Hereditary, 10 15
765 c KLL008 Kallmann Syndrome 6 15
766 BRT060 Bartholin's Gland Disease 15
767 CRV008 Cervical Basaloid Squamous Cell Carcinoma 15
768 EXC001 Exocervical Carcinoma 14
769 LMY012 Leiomyosarcoma of the Cervix Uteri 14
770 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
771 CRV029 Cervical Keratinizing Squamous Cell Carcinoma 14
772 XLN112 X-Linked Intellectual Disability, Cilliers Type 14
773 SRC029 Sarcoma of Cervix Uteri 14
774 P OVR045 Ovarian Clear Cell Adenofibroma 13
775 c PRS079 Prostate Cancer, Hereditary, 5 13
776 P RRB004 Rare Breast Tumor 13
777 c KLL006 Kallmann Syndrome 4 13
778 CLR006 Clear Cell Cystadenofibroma 13
779 c PRS076 Prostate Cancer, Hereditary, 15 13
780 MCR007 Micropapillomatosis Labialis 12
781 c PRS075 Prostate Cancer, Hereditary, 14 12
782 c PRM047 Primary Malignant Melanoma of the Cervix 12
783 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
784 FLL005 Fallopian Tube Adenosarcoma 12
785 PRT111 Partial Septate Uterus 12
786 FLL024 Fallopian Tube Adenofibroma 12
787 VGN006 Vaginal Endometrial Stromal Tumor 12
788 LBM004 Labium Majus Cancer 11
789 c SYR009 Syringomas, Multiple 11
790 LKP002 Leukoplakia of Vagina 11
791 P RRC012 Rare Cancer of Cervix Uteri 11
792 UTR035 Uterine Corpus Choriocarcinoma 10
793 PRL015 Prolapse of Female Genital Organ 10
794 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
795 c SCN039 Secondary Central Precocious Puberty 10
796 EPD013 Epididymis Adenomatoid Tumor 9
797 GST021 Gestational Uterine Corpus Choriocarcinoma 9
798 TBR005 Tuberculous Oophoritis 9
799 VLV005 Vulvar Liposarcoma 9
800 c MLN081 Male Infertility Due to Sperm Motility Disorder 9
801 PNS004 Penis Paget's Disease 9
802 CRV016 Cervical Wilms' Tumor 9
803 c CNG628 Congenital Disorder of Glycosylation Iw 9
804 RRB001 Rare Benign Ovarian Tumor 9
805 UTR016 Uterus Interstitial Leiomyoma 8
806 VGN008 Vaginal Spindle Cell Epithelioma 8
807 UNC003 Unicervical Bicornuate Uterus 8
808 PLV002 Pelvic Muscle Wasting 8
809 TST011 Testis Rhabdomyosarcoma 8
810 WLF005 Wolffian Adnexal Neoplasm 8
811 VLV027 Vulvar Keratoacanthoma-Like Carcinoma 8
812 FLL018 Fallopian Tube Teratoma 8
813 CRV018 Cervix Squamous Papilloma 7
814 SLT004 Solitary Cyst of Breast 7
815 END010 Endometriosis of Rectovaginal Septum and Vagina 7
816 MLG117 Malignant Germ Cell Tumor of the Cervix Uteri 7
817 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
818 UTR034 Uterine Corpus Cellular Leiomyoma 7
819 OVR019 Ovarian Malignant Mesothelioma 7
820 GNC009 Gonococcal Seminal Vesiculitis 7
821 FLL007 Fallopian Tube Leiomyosarcoma 7
822 c RRM015 Rare Male Infertility 7
823 END012 Endometriosis in Scar of Skin 7
824 P DSR041 Disorder of Multiple Glycosylation 6
825 OVR032 Ovarian Surface Papilloma 6
826 CRV007 Cervical Alveolar Soft Part Sarcoma 6
827 MLG025 Male Genital Organ Stricture 6
828 END090 Endometrial Endometrioid Adenocarcinoma, Secretory Variant 6
829 VLL004 Villoglandular Variant Cervical Mucinous Adenocarcinoma 6
830 RRB005 Rare Breast Malformation 6
831 c MLN082 Male Infertility Due to Sperm Disorder 6
832 CHL063 Childhood Teratoma of the Ovary 6
833 UTR005 Uterine Corpus Adenomatoid Tumor 6
834 CHL011 Childhood Immature Teratoma of Ovary 6
835 MLG162 Malignant Mixed Epithelial and Mesenchymal Tumor of Cervix Uteri 6
836 CRV017 Cervical Mullerian Papilloma 6
837 PRM017 Parametrium Malignant Neoplasm 6
838 VGN032 Vaginal Squamous Papilloma 6
839 MNR001 Minor Vestibular Glands Adenoma 6
840 UTR025 Uterine Corpus Adenofibroma 6
841 BRT009 Bartholin's Gland Adenomyoma 6
842 FLL009 Fallopian Tube Adenomatoid Tumor 6
843 CRV003 Cervical Endometrial Stromal Sarcoma 6
844 VLV025 Vulvar Alveolar Soft Part Sarcoma 6
845 VLL002 Villoglandular Endometrial Endometrioid Adenocarcinoma 6
846 VLV003 Vulvar Basaloid Squamous Cell Carcinoma 6
847 UTR019 Uterine Corpus Lipoleiomyoma 6
848 UTR004 Uterus Intravascular Leiomyomatosis 6
849 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 5
850 MLG161 Malignant Mixed Epithelial and Mesenchymal Tumor of Corpus Uteri 5
851 UTR023 Uterine Corpus Epithelioid Leiomyosarcoma 5
852 PLY009 Polyembryoma of the Ovary 5
853 UTR021 Uterine Corpus Myxoid Leiomyosarcoma 5
854 UTR055 Uterine Cervical Aplasia and Agenesis 5
855 UTR022 Uterine Corpus Atypical Polypoid Adenomyoma 5
856 UTR007 Uterine Corpus Apoplectic Leiomyoma 5
857 NNS049 Non-Syndromic Uterovaginal Malformation 5
858 MCN002 Mucin-Rich Endometrial Endometrioid Adenocarcinoma 5
859 UTR060 Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease 5
860 CHN007 Chondroid Syringoma of the Vulva 5
861 VLV028 Vulvar Non-Keratinizing Squamous Cell Carcinoma 5
862 VLV024 Vulvar Clear Cell Hidradenocarcinoma 5
863 OVR014 Ovarian Clear Cell Cystadenofibroma 5
864 FLL004 Fallopian Tube Serous Papilloma 5
865 VLV029 Vulvar Eccrine Adenocarcinoma 5
866 OVR007 Ovarian Endometrioid Cystadenoma 5
867 c PRM362 Primary Ovarian Insufficiency 13 5
868 c PRM358 Primary Ovarian Insufficiency 9 5
869 CHR032 Chronic Subinvolution of Uterus 5
870 HRN002 Hernia of Ovary and Fallopian Tube 5
871 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
872 SYN100 Syndromic Uterovaginal Malformation 5
873 c PRM366 Primary Ovarian Insufficiency 17 5
874 ACT054 Acute Female Pelvic Peritonitis 5
875 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 5
876 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
877 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
878 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
879 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
880 CRV021 Cervical Atypical Polypoid Adenomyoma 5
881 SRS014 Serous Cystadenoma of Childhood 5
882 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
883 RTV001 Rete Ovarii Cystadenoma 5
884 MCN025 Mucinous Cystadenoma of Childhood 5
885 UTR014 Uterine Corpus Epithelioid Leiomyoma 5
886 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
887 OVR122 Ovarian Sex Cord-Stromal Benign Neoplasm 5
888 SRM003 Seromucinous Cystadenoma of Childhood 5
889 VLV017 Vulvar Nodular Hidradenoma 5
890 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
891 TBL005 Tubular Variant Testicular Seminoma 5
892 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
893 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
894 PSD013 Pseudoglandular Variant Testicular Seminoma 5
895 CRB003 Cribriform Variant Testicular Seminoma 5
896 BNG082 Benign Tumor of Fallopian Tubes 5
897 END026 Endocervical Type Cervical Mucinous Adenocarcinoma 4
898 c PRM352 Primary Ovarian Insufficiency 3 4
899 c PRM363 Primary Ovarian Insufficiency 14 4
900 c PRM361 Primary Ovarian Insufficiency 12 4
901 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
902 c PRM357 Primary Ovarian Insufficiency 8 4
903 c PRM354 Primary Ovarian Insufficiency 5 4
904 c MLN062 Male Infertility with Spermatogenesis Disorder Due to Single Gene Mutation 4
905 c PRM353 Primary Ovarian Insufficiency 4 4
906 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
907 c PRM350 Primary Ovarian Insufficiency 2a 4
908 c PRM365 Primary Ovarian Insufficiency 16 4
909 c PRM360 Primary Ovarian Insufficiency 11 4
910 c OVR071 Ovarian Insufficiency, Familial 4
911 c PRM359 Primary Ovarian Insufficiency 10 4
912 c PRM364 Primary Ovarian Insufficiency 15 4
913 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
914 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
915 TST041 Testicular Germ Cell Tumor Non-Seminomatous 4
916 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
917 CHY001 Chylocele of Tunica Vaginalis 4
918 RRD070 Rare Disorder with Multisystemic Involvement and Congenital Hypogonadotropic Hypogonadism 4
919 RRV003 Rare Vulvovaginal Tumor 3
920 UTR008 Uterine Corpus Adenocarcinofibroma 3
921 RRD073 Rare Disorder Due to Inadequate Sharing of the Placenta 3
922 RRN006 Rare Non-Malformative Breast Disease 3
923 ATS478 Autosomal Recessive Congenital Bilateral Absence of Vas Deferens 3
924 EXC006 Excess Breast Volume or Number 3
925 RRT003 Rare Uterine Adnexal Tumor 3
926 RRD072 Rare Disorder Related to Monochorionic Twin Pregnancy 3
927 RRD008 Rare Disorder Related with Pregnancy, Childbirth and Puerperium 3
928 RRN008 Rare Non-Malformative Uterovaginal or Vulvovaginal Disease 3
929 GND016 Gonadal Dysgenesis of Gynecological Interest 3
930 URG001 Urogenital Tuberculosis 32
931 CLR014 Clear Cell Adenoma 23
932 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 29
933 RNL051 Renal Cysts and Diabetes Syndrome 58
934 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 22
935 c LYN009 Lynch Syndrome 5 49
936 c LYN008 Lynch Syndrome 4 43
937 PTT002 Potter's Syndrome 41
938 c LYN007 Lynch Syndrome 8 40
939 P CLR055 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 38
940 CHN002 Chancroid 37
941 MLG007 Malignant Skin Fibrous Histiocytoma 36
942 c CLR100 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 30
943 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
944 c HYP595 Hypertension, Essential 86
945 CNN003 Conn's Syndrome 83
946 LPT014 Leptin Deficiency or Dysfunction 78
947 ADR007 Adrenoleukodystrophy 75
948 CRV035 Cervical Cancer 73
949 FLL027 Fallopian Tube Carcinoma 67
950 AND002 Androgen Insensitivity Syndrome 63
951 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
952 SPP011 Suppression of Tumorigenicity 12 61
953 GST033 Gestational Diabetes 61
954 CRY035 Cryptorchidism, Unilateral or Bilateral 60
955 END041 Endometrial Adenocarcinoma 60
956 ADN027 Adenomyosis 60
957 c CLR131 Ciliary Dyskinesia, Primary, 1 59
958 UTR024 Uterine Carcinosarcoma 58
959 END002 Endometrioid Ovary Carcinoma 57
960 c BRS007 Breast Malignant Phyllodes Tumor 55
961 P HYP040 Hypospadias 55
962 PGT003 Paget Disease, Extramammary 54
963 P BRS044 Breast Adenocarcinoma 54
964 PLV003 Pelvic Inflammatory Disease 54
965 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 54
966 MMM001 Mammary Paget's Disease 54
967 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 53
968 GST010 Gestational Trophoblastic Neoplasm 53
969 BCT002 Bacterial Vaginosis 52
970 PRP009 Peripartum Cardiomyopathy 52
971 c LYM145 Lymphatic Malformation 5 52
972 P TRC102 Trichothiodystrophy 1, Photosensitive 52
973 WDH003 Woodhouse-Sakati Syndrome 51
974 CRV040 Cervix Carcinoma 50
975 VCT001 Vacterl Association 50
976 3MC001 3mc Syndrome 2 49
977 VLV034 Vulva Squamous Cell Carcinoma 49
978 MLL001 Molluscum Contagiosum 49
979 c LYM144 Lymphatic Malformation 1 48
980 OVR059 Ovary Adenocarcinoma 48
981 SXC001 Sex Cord-Gonadal Stromal Tumor 48
982 END085 Endometrial Serous Adenocarcinoma 47
983 TST044 Testicular Torsion 47
984 ECT026 Ectopic Pregnancy 46
985 P LYD011 Leydig Cell Hypoplasia 45
986 c SPR041 Spermatogenic Failure 6 45
987 c TRC100 Trichothiodystrophy 3, Photosensitive 45
988 LYD001 Leydig Cell Tumor 45
989 ECT093 Ectopic Cushing Syndrome 45
990 c 46X030 46,xy Sex Reversal 9 44
991 P MLG069 Malignant Hypertension 44
992 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 44
993 c OVR058 Ovarian Small Cell Carcinoma 43
994 END011 Endometriosis of Ovary 43
995 DYS101 Dysgerminoma 43
996 P PRR025 Perrault Syndrome 43
997 TST015 Testicular Disease 42
998 c SPR043 Spermatogenic Failure 9 42
999 c LYM161 Lymphatic Malformation 12 42
1000 ADR022 Adrenomyeloneuropathy 42
1001 3MC002 3mc Syndrome 1 42
1002 MLR006 Male Reproductive Organ Cancer 41
1003 c CLR135 Ciliary Dyskinesia, Primary, 7 40
1004 OVR026 Ovary Transitional Cell Carcinoma 40
1005 P BNG013 Benign Breast Phyllodes Tumor 40
1006 P STR021 Struma Ovarii 39
1007 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39
1008 TWN001 Twin-to-Twin Transfusion Syndrome 39
1009 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 39
1010 c SPR061 Spermatogenic Failure 5 39
1011 DYS017 Dysgerminoma of Ovary 38
1012 PNS002 Penis Carcinoma in Situ 38
1013 UTR037 Uterine Corpus Sarcoma 38
1014 OVR034 Ovarian Clear Cell Adenocarcinoma 38
1015 c LYD012 Leydig Cell Hypoplasia, Type I 37
1016 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 37
1017 c PRR020 Perrault Syndrome 1 37
1018 FLL015 Fallopian Tube Serous Adenocarcinoma 37
1019 OVR054 Ovarian Mucinous Neoplasm 36
1020 OVR123 Ovarian Seromucinous Carcinoma 36
1021 ASH001 Asherman's Syndrome 36
1022 P FML333 Familial Behcet-Like Autoinflammatory Syndrome 36
1023 P MXD016 Mixed Gonadal Dysgenesis 35
1024 c SPR093 Spermatogenic Failure, Y-Linked, 2 35
1025 P OVR010 Ovarian Brenner Tumor 35
1026 MCH011 Meacham Syndrome 35
1027 END025 Endometrial Squamous Cell Carcinoma 35
1028 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 35
1029 NVL003 Nivelon-Nivelon-Mabille Syndrome 35
1030 c SPR111 Spermatogenic Failure 16 35
1031 OVR051 Ovarian Endodermal Sinus Tumor 35
1032 OVR121 Ovarian Sex-Cord Stromal Tumor 34
1033 c LYM150 Lymphatic Malformation 7 34
1034 c RNG029 Ring Chromosome 14 Syndrome 34
1035 c TRC099 Trichothiodystrophy 2, Photosensitive 34
1036 VLV002 Vulva Basal Cell Carcinoma 34
1037 c SPR082 Spermatogenic Failure 10 34
1038 c LYM149 Lymphatic Malformation 6 34
1039 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 34
1040 P ACT244 Acth-Independent Cushing Syndrome 33
1041 FLL022 Fallopian Tube Clear Cell Adenocarcinoma 33
1042 END001 Endometrial Mucinous Adenocarcinoma 33
1043 CRV026 Cervical Clear Cell Adenocarcinoma 33
1044 FLL003 Fallopian Tube Endometrioid Adenocarcinoma 33
1045 P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 32
1046 OVR041 Ovarian Benign Neoplasm 32
1047 OVR048 Ovarian Cystadenoma 32
1048 c RNG018 Ring Chromosome 22 32
1049 P RRL003 Rare Lymphatic Malformation 31
1050 OVR060 Ovary Epithelial Cancer 31
1051 CYS015 Cystadenofibroma 31
1052 CHR075 Choriocarcinoma of Ovary 31
1053 PDN001 Pudendal Neuralgia 31
1054 NPP006 Nipples, Supernumerary 31
1055 VGN014 Vagina Sarcoma 31
1056 PLC006 Placental Choriocarcinoma 31
1057 c RNG017 Ring Chromosome 21 31
1058 DBL008 Double Uterus-Hemivagina-Renal Agenesis 31
1059 c PRR021 Perrault Syndrome 4 31
1060 FLL023 Fallopian Tube Adenocarcinoma 31
1061 UTR032 Uterine Body Mixed Cancer 30
1062 c RNG004 Ring Chromosome 1 30
1063 VLV021 Vulval Paget's Disease 30
1064 CRV001 Cervical Endometrioid Adenocarcinoma 30
1065 c LYD013 Leydig Cell Hypoplasia Type Ii 30
1066 c SPR084 Spermatogenic Failure 2 30
1067 EPD017 Epididymis Cancer 30
1068 END015 Endometrial Adenosquamous Carcinoma 29
1069 OVR015 Ovarian Mixed Germ Cell Neoplasm 29
1070 c RNG022 Ring Chromosome 6 29
1071 c RNG007 Ring Chromosome 12 29
1072 MLG154 Malignant Sertoli-Leydig Cell Tumor of the Ovary 29
1073 c RNG020 Ring Chromosome 4 28
1074 OVR057 Ovarian Serous Adenofibroma 28
1075 SCR017 Scrotum Neoplasm 28
1076 RPR001 Reproductive Organ Benign Neoplasm 28
1077 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 28
1078 c RNG024 Ring Chromosome 8 28
1079 YNG002 Young Syndrome 28
1080 c RNG005 Ring Chromosome 10 28
1081 c MLG080 Malignant Secondary Hypertension 28
1082 FML019 Familiar Ovarian Carcinoma 28
1083 CRV033 Cervical Adenosquamous Carcinoma 28
1084 c SPR086 Spermatogenic Failure 3 27
1085 PRS017 Prostate Neuroendocrine Neoplasm 27
1086 BRS039 Breast Fibroadenosis 27
1087 c SPR095 Spermatogenic Failure 14 27
1088 c PRR024 Perrault Syndrome 3 27
1089 c CLR054 Ciliary Dyskinesia, Primary, 12 27
1090 TST003 Testicular Leukemia 27
1091 P RNG032 Ring Chromosome 27
1092 c CLR102 Ciliary Dyskinesia, Primary, 17 27
1093 MLG164 Malignant Epithelial Tumor of Ovary 26
1094 PRV023 Perivascular Epithelioid Cell Neoplasm 26
1095 BRT016 Bartholin's Gland Carcinoma 26
1096 c PRR022 Perrault Syndrome 2 26
1097 VGN005 Vaginal Endometrial Stromal Sarcoma 25
1098 HRD114 Hereditary Site-Specific Ovarian Cancer Syndrome 25
1099 UTR029 Uterus Perivascular Epithelioid Cell Tumor 25
1100 c BNG021 Benign Essential Hypertension 25
1101 c RNG010 Ring Chromosome 15 25
1102 c RNG016 Ring Chromosome 20 25
1103 OVR103 Ovarian Endometrial Cancer 25
1104 c PRR026 Perrault Syndrome 5 25
1105 PRV001 Parovarian Cyst 25
1106 P TST048 Testicular Sex Cord-Stromal Neoplasm 25
1107 BRT012 Bartholin's Gland Adenoma 24
1108 c SPR128 Spermatogenic Failure 25 24
1109 PRS002 Prostate Lymphoma 24
1110 c ATN028 Autoinflammatory Syndrome, Familial, Behcet-Like 1 24
1111 RTT004 Rete Testis Adenocarcinoma 24
1112 c LYM147 Lymphatic Malformation 3 24
1113 c RNG006 Ring Chromosome 11 24
1114 SPT015 Septate Vagina 24
1115 c LYM148 Lymphatic Malformation 4 24
1116 SBS001 Subserous Uterine Fibroid 24
1117 c SPR127 Spermatogenic Failure 24 24
1118 DST037 Distal Monosomy 9p 23
1119 c SPR110 Spermatogenic Failure 17 23
1120 c RNG019 Ring Chromosome 3 23
1121 UTR054 Uterine Hypoplasia 23
1122 P RCR026 Recurrent Hydatidiform Mole 23
1123 c MLG039 Malignant Essential Hypertension 23
1124 UTR009 Uterus Carcinoma in Situ 23
1125 c SPR112 Spermatogenic Failure 21 23
1126 c SPR149 Spermatogenic Failure 39 23
1127 c SPR081 Spermatogenic Failure 11 22
1128 c RNG025 Ring Chromosome 9 22
1129 c RNG021 Ring Chromosome 5 22
1130 FLL014 Fallopian Tube Transitional Cell Carcinoma 22
1131 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1132 END027 Endometrial Mixed Adenocarcinoma 22
1133 c SPR141 Spermatogenic Failure 36 22
1134 ADN062 Adenoid Basal Carcinoma of the Cervix Uteri 22
1135 OVR003 Ovarian Angiosarcoma 22
1136 PNS008 Penis Basal Cell Carcinoma 22
1137 c RNG012 Ring Chromosome 17 22
1138 FLL001 Fallopian Tube Mucinous Adenocarcinoma 22
1139 c SPR153 Spermatogenic Failure 43 22
1140 c ADL043 Adult Type Testicular Granulosa Cell Tumor 21
1141 c SPR114 Spermatogenic Failure 20 21
1142 TTR018 Tetragametic Chimerism 21
1143 c PRR033 Perrault Syndrome 6 21
1144 c LYM155 Lymphatic Malformation 8 21
1145 c CMP071 Camptodactyly Syndrome, Guadalajara, Type Ii 21
1146 c SPR173 Spermatogenic Failure 57 21
1147 c LYM159 Lymphatic Malformation 10 21
1148 c SPR091 Spermatogenic Failure, X-Linked, 2 21
1149 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 21
1150 c SPR152 Spermatogenic Failure 42 21
1151 PRR005 Paraurethral Gland Cancer 21
1152 SPR014 Spermatic Cord Cancer 21
1153 PRS027 Prostate Transitional Cell Carcinoma 21
1154 VLV050 Vulvar Adenocarcinoma 20
1155 CHL173 Childhood Ovarian Germ Cell Tumor 20
1156 SMN006 Seminal Vesicle Tumor 20
1157 SCR016 Scrotal Carcinoma 20
1158 CRC040 Carcinosarcoma of the Cervix Uteri 20
1159 VGN002 Vagina Leiomyoma 20
1160 FLL017 Fallopian Tube Squamous Cell Carcinoma 20
1161 c SPR172 Spermatogenic Failure 56 20
1162 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 20
1163 c CMP088 Camptodactyly Syndrome, Guadalajara, Type Iii 20
1164 c SPR181 Spermatogenic Failure 65 20
1165 BRT015 Bartholin's Gland Adenocarcinoma 20
1166 BRD046 Borderline Epithelial Tumor of Ovary 20
1167 OVR061 Ovary Sarcoma 19
1168 SCR012 Scrotum Melanoma 19
1169 c RNG011 Ring Chromosome 16 19
1170 c SPR142 Spermatogenic Failure 37 19
1171 c RNG014 Ring Chromosome 19 19
1172 VLV001 Vulvar Keratinizing Squamous Cell Carcinoma 19
1173 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 19
1174 PSD084 Pseudo-Meigs Syndrome 19
1175 HYD021 Hydrocephalus Obesity Hypogonadism 19
1176 c LYM158 Lymphatic Malformation 9 19
1177 CRV011 Cervical Serous Adenocarcinoma 19
1178 46X015 46,xy Ovotesticular Disorder of Sex Development 19
1179 SQM012 Squamous Cell Carcinoma of the Corpus Uteri 19
1180 PNS007 Penis Sarcoma 19
1181 c SPR133 Spermatogenic Failure 30 19
1182 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 18
1183 c SPR135 Spermatogenic Failure 32 18
1184 c SPR159 Spermatogenic Failure 47 18
1185 SCR013 Scrotum Squamous Cell Carcinoma 18
1186 P HYP284 Hypospadias 1, X-Linked 18
1187 SRS015 Serous Carcinoma of the Corpus Uteri 18
1188 OVR020 Ovarian Wilms' Cancer 18
1189 c SPR167 Spermatogenic Failure 53 18
1190 VLV023 Vulvar Eccrine Porocarcinoma 18
1191 c SPR156 Spermatogenic Failure 44 18
1192 LPS003 Liposarcoma of the Ovary 18
1193 TST013 Testicular Thecoma 18
1194 c RNG031 Ring Chromosome Y Syndrome 18
1195 c SPR164 Spermatogenic Failure 52 18
1196 c SPR151 Spermatogenic Failure 41 18
1197 c SPR169 Spermatogenic Failure 54 18
1198 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
1199 c SPR175 Spermatogenic Failure 59 17
1200 c SPR129 Spermatogenic Failure 26 17
1201 c LYM160 Lymphatic Malformation 11 17
1202 IST001 Isthmus Cancer 17
1203 c SPR174 Spermatogenic Failure 58 17
1204 c SPR179 Spermatogenic Failure 63 17
1205 VLV006 Vulva Verrucous Carcinoma 17
1206 VGN010 Vaginal Tubulovillous Adenoma 17
1207 MLR005 Male Reproductive Organ Benign Neoplasm 16
1208 DDL001 Didelphys Uterus 16
1209 c LYM146 Lymphatic Malformation 2 16
1210 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 16
1211 c HYP270 Hypospadias 2, X-Linked 16
1212 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 16
1213 c RRM003 Rare Malignant Breast Tumor 16
1214 TRN046 Transverse Vaginal Septum 16
1215 XSM001 X Small Rings 16
1216 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
1217 LNG081 Longitudinal Vaginal Septum 15
1218 PRM194 Primary Peritoneal Serous/papillary Carcinoma 15
1219 FLL010 Fallopian Tube Leiomyoma 15
1220 c HYP545 Hypospadias 3, Autosomal 14
1221 PRM193 Primary Non-Gestational Choriocarcinoma of Ovary 14
1222 TST019 Testis Sarcoma 14
1223 CLT001 Clitoris Cancer 13
1224 TRN045 True Unicornuate Uterus 13
1225 TRN048 Transitional Cell Carcinoma of the Corpus Uteri 13
1226 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
1227 FLL025 Fallopian Tube Benign Neoplasm 13
1228 PNS005 Penis Mixed Squamous Cell Carcinoma 12
1229 FLL011 Fallopian Tube Gestational Choriocarcinoma 12
1230 LBM005 Labia Minora Cancer 11
1231 END008 Endometriosis of Intestine 11
1232 c BNG034 Benign Secondary Hypertension 11
1233 CRV034 Cervical Benign Neoplasm 11
1234 MST003 Masters-Allen Syndrome 11
1235 c HYP447 Hypertension, Essential 1 11
1236 c PRS003 Prostate Malignant Phyllodes Tumor 11
1237 c HYP449 Hypertension, Essential 3 11
1238 c HYP452 Hypertension, Essential 6 11
1239 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 10
1240 c RRD004 Rare Adenocarcinoma of the Breast 10
1241 c HYP448 Hypertension, Essential 2 10
1242 c HYP450 Hypertension, Essential 4 10
1243 c HYP451 Hypertension, Essential 5 9
1244 MLG156 Malignant Dysgerminomatous Germ Cell Tumor of the Ovary 9
1245 c HYP453 Hypertension, Essential 7 9
1246 c HYP454 Hypertension, Essential 8 9
1247 P MLN061 Male Infertility with Spermatogenesis Disorder 9
1248 CRV012 Cervical Verrucous Carcinoma 9
1249 FLL002 Fallopian Tube Mucinous Tumor 8
1250 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
1251 CYS049 Cystadenoma of Childhood 8
1252 UTR040 Uterine Ligament Adenocarcinoma 8
1253 c RRB002 Rare Benign Breast Tumor 8
1254 c HYP653 Hypospadias 4, X-Linked 7
1255 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
1256 FLL012 Fallopian Tube Cystadenofibroma 7
1257 UTR026 Uterine Corpus Endometrial Stromal Sarcoma 7
1258 CHL042 Childhood Choriocarcinoma of the Testis 7
1259 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
1260 BRT003 Bartholin's Gland Small Cell Carcinoma 7
1261 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
1262 P SYN117 Syndrome with Disorder of Sex Development of Gynecological Interest 6
1263 PRS001 Prostate Colloid Adenocarcinoma 6
1264 MLG114 Malignant Germ Cell Tumor of the Corpus Uteri 6
1265 GLS017 Glassy Cell Carcinoma of the Cervix Uteri 6
1266 THC005 Theca Steroid-Producing Cell Malignant Tumor of Ovary, Not Further Specified 6
1267 MLG127 Malignant Non-Dysgerminomatous Germ Cell Tumor of Ovary 6
1268 SXC003 Sex Cord-Stromal Benign Neoplasm 6
1269 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1270 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1271 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 6
1272 RRC011 Rare Cancer of Corpus Uteri 6
1273 CHL036 Childhood Mature Teratoma of the Ovary 6
1274 VGN007 Vaginal Villous Adenoma 6
1275 VGN003 Vaginal Mullerian Papilloma 6
1276 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
1277 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
1278 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
1279 c BNG035 Benign Vaginal Carcinosarcoma 6
1280 VLV037 Vulvar Glandular Tumor 5
1281 SRC005 Sarcomatoid Penile Squamous Cell Carcinoma 5
1282 OVR028 Ovarian Squamous Cell Neoplasm 5
1283 ABS021 Absence of Uterine Body 5
1284 UTR012 Uterine Ligament Serous Adenocarcinoma 5
1285 MLG026 Male Genital Organ Vascular Disease 5
1286 PPL043 Papillary Carcinoma of the Cervix Uteri 5
1287 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 5
1288 RRV004 Rare Vaginal Malformation 5
1289 GLS005 Glassy Cell Variant Cervical Adenosquamous Carcinoma 5
1290 SRC012 Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma 5
1291 OXY001 Oxyphilic Endometrial Endometrioid Adenocarcinoma 5
1292 VGN009 Vaginal Tubular Adenoma 5
1293 SGN004 Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma 5
1294 CRC031 Carcinofibroma of the Corpus Uteri 5
1295 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1296 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
1297 MXD038 Mixed Extragonadal Germ Cell Cancer 5
1298 TST042 Testicular Pure Germ Cell Tumor 5
1299 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1300 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 5
1301 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
1302 PNS003 Penis Basaloid Carcinoma 5
1303 RRV001 Rare Variants of Adenocarcinoma of the Corpus Uteri 4
1304 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1305 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
1306 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1307 RRD028 Rare Disorder with Obstructive Azoospermia 4
1308 c 46X061 46,xy Disorder of Sex Development of Gynecological Interest 3
1309 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1310 RRD074 Rare Disorder Due to Unbalanced Inter-Twin Blood Transfusion 3
1311 RRN004 Rare Non-Malformative Uterine Adnexal Disease 3
1312 P LYN001 Lynch Syndrome 77
1313 P FML018 Familial Mediterranean Fever 75
1314 c LYN005 Lynch Syndrome 1 61
1315 c LYN006 Lynch Syndrome 2 43
1316 c FML344 Familial Mediterranean Fever, Autosomal Dominant 26
1317 P BRS047 Breast Cancer 97
1318 CYS001 Cystic Fibrosis 78
1319 END057 Endometrial Cancer 77
1320 P MYT021 Myotonic Dystrophy 1 74
1321 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 70
1322 P FRG001 Fragile X Syndrome 69
1323 P BRD002 Bardet-Biedl Syndrome 67
1324 P GLC113 Galactosemia I 66
1325 VLV032 Vulva Cancer 66
1326 c BRD010 Bardet-Biedl Syndrome 1 65
1327 P END044 Endometriosis 64
1328 P CMP005 Campomelic Dysplasia 62
1329 P LMY004 Leiomyosarcoma 62
1330 c BRS110 Breast-Ovarian Cancer, Familial 1 61
1331 CRV038 Cervical Squamous Cell Carcinoma 60
1332 DNY001 Denys-Drash Syndrome 59
1333 c BRD012 Bardet-Biedl Syndrome 11 59
1334 c MYT020 Myotonic Dystrophy 2 57
1335 CMP034 Complete Androgen Insensitivity Syndrome 56
1336 PLC005 Placental Insufficiency 55
1337 c GLC111 Galactosemia Ii 55
1338 c BRD011 Bardet-Biedl Syndrome 10 55
1339 MYM001 Myoma 54
1340 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 54
1341 LPT006 Leptin Receptor Deficiency 53
1342 c GLC112 Galactosemia Iii 53
1343 TST014 Testicular Cancer 52
1344 c HRD117 Hereditary Breast Cancer 52
1345 c BRD013 Bardet-Biedl Syndrome 12 51
1346 c INF023 Inflammatory Breast Carcinoma 51
1347 c BRD016 Bardet-Biedl Syndrome 4 50
1348 c BRD014 Bardet-Biedl Syndrome 2 50
1349 c BRD018 Bardet-Biedl Syndrome 6 49
1350 c BRD015 Bardet-Biedl Syndrome 3 49
1351 c BRS111 Breast-Ovarian Cancer, Familial 2 49
1352 CRR002 Currarino Syndrome 48
1353 GLC106 Glucocorticoid Resistance, Generalized 48
1354 c BRS049 Breast Carcinoma in Situ 47
1355 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 47
1356 P PNL012 Penile Cancer 47
1357 PRP007 Priapism 46
1358 CHR074 Choriocarcinoma 46
1359 FML005 Female Reproductive Endometrioid Cancer 46
1360 c BRD032 Bardet-Biedl Syndrome 14 45
1361 47X004 47 Xxx Syndrome 44
1362 HMN048 Human Papillomavirus Infectious Disease 44
1363 ENT001 Enterocele 44
1364 c BRD019 Bardet-Biedl Syndrome 7 44
1365 PLC003 Placental Site Trophoblastic Tumor 44
1366 c BRD045 Bardet-Biedl Syndrome 19 44
1367 BCH003 Boucher-Neuhauser Syndrome 43
1368 c BRD044 Bardet-Biedl Syndrome 17 43
1369 c BRD017 Bardet-Biedl Syndrome 5 43
1370 c BRD021 Bardet-Biedl Syndrome 9 43
1371 c BRD033 Bardet-Biedl Syndrome 13 43
1372 46X012 46,xy Partial Gonadal Dysgenesis 42
1373 c BRD048 Bardet-Biedl Syndrome 18 42
1374 c SPR009 Sporadic Breast Cancer 42
1375 48X005 48,xyyy 41
1376 c BRD020 Bardet-Biedl Syndrome 8 40
1377 TRP014 Triploidy 39
1378 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 39
1379 c BRD047 Bardet-Biedl Syndrome 16 39
1380 VLV020 Vulvar Melanoma 39
1381 OVR011 Ovarian Mucinous Adenocarcinoma 38
1382 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 36
1383 c BRD053 Bardet-Biedl Syndrome 22 36
1384 c BRD035 Bardet-Biedl Syndrome 15 35
1385 DRM005 Dermoid Cyst of Ovary 34
1386 CRV013 Cervical Adenoid Cystic Carcinoma 34
1387 TST018 Testicular Yolk Sac Tumor 34
1388 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1389 BCK005 Becker Nevus Syndrome 34
1390 OVR062 Ovary Serous Adenocarcinoma 34
1391 P ACR072 Acrorenal Syndrome 34
1392 ANR018 Anorchia 33
1393 IMM005 Immature Teratoma of Ovary 33
1394 FTL026 Fetal Parvovirus Syndrome 32
1395 OVR013 Ovarian Mucinous Cystadenocarcinoma 31
1396 TST020 Testis Seminoma 31
1397 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 31
1398 WLF003 Wolffian Duct Adenoma 31
1399 DFN039 Deafness-Infertility Syndrome 30
1400 c GLC115 Galactosemia Iv 30
1401 c BRD050 Bardet-Biedl Syndrome 21 29
1402 c BRS098 Breast-Ovarian Cancer, Familial 4 29
1403 HMT001 Hematocele of Tunica Vaginalis Testis 28
1404 c INF031 Inflammatory Leiomyosarcoma 28
1405 OVR021 Ovarian Lymphoma 27
1406 TST010 Testicular Spermatocytic Seminoma 27
1407 c BRD051 Bardet-Biedl Syndrome 20 27
1408 c RNG013 Ring Chromosome 18 26
1409 CLR137 Clear Cell Adenocarcinoma of the Ovary 26
1410 MCN003 Mucinous Ovarian Cystadenoma 26
1411 CRV036 Cervical Carcinosarcoma 26
1412 c BRS088 Breast-Ovarian Cancer, Familial 3 25
1413 c END071 Endometriosis 1 25
1414 INT041 Intratubular Embryonal Carcinoma 25
1415 MCN019 Mucinous Adenocarcinoma of Ovary 24
1416 FLL028 Fallopian Tube Carcinosarcoma 24
1417 AMN019 Amniotic Fluid Embolism 24
1418 TST001 Testicular Leydig Cell Tumor 23
1419 BRT045 Bartholin's Gland Benign Neoplasm 23
1420 NNG002 Non-Gestational Ovarian Choriocarcinoma 23
1421 MSC089 Mosaic Monosomy X 22
1422 SPT023 Septate Uterus 22
1423 OVR104 Ovarian Melanoma 22
1424 VST005 Vestibular Gland Benign Neoplasm 21
1425 VGN016 Vaginal Benign Neoplasm 21
1426 TST005 Testicular Gonadoblastoma 21
1427 EPD012 Epididymal Neoplasm 21
1428 CHL172 Childhood Testicular Germ Cell Tumor 19
1429 ACT245 Acth-Dependent Cushing Syndrome 19
1430 c 46X060 46,xx Disorder of Sex Development 18
1431 HYP689 Hypomelia with Mullerian Duct Anomalies 18
1432 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
1433 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 17
1434 MLG155 Maligant Granulosa Cell Tumor of the Ovary 17
1435 OVR033 Ovary Papillary Carcinoma 16
1436 SLV014 Salivary Gland Type Cancer of the Breast 16
1437 c CMP100 Campomelic Dysplasia and Related Disorders 16
1438 c ACR115 Acrorenal Syndrome, Autosomal Recessive 16
1439 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
1440 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 15
1441 CMP079 Complete Septate Uterus 15
1442 GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 15
1443 VGN021 Vaginal Glandular Tumor 15
1444 c TST017 Testicular Malignant Germ Cell Cancer 15
1445 SCR014 Scrotum Basal Cell Carcinoma 15
1446 OVR016 Ovarian Endometrioid Stromal Sarcoma 14
1447 FLL016 Fallopian Tube Papillary Adenocarcinoma 13
1448 MLG166 Malignant Sex Cord Stromal Tumor of Ovary 12
1449 RRT013 Rare Uterine Cancer 10
1450 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 10
1451 BRT010 Bartholin's Gland Transitional Cell Carcinoma 9
1452 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 9
1453 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 8
1454 CHL043 Childhood Embryonal Testis Carcinoma 8
1455 BRT007 Bartholin's Gland Squamous Cell Carcinoma 8
1456 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
1457 BRD006 Broad Ligament Malignant Neoplasm 8
1458 MLG017 Malignant Tumor of Undescended Testis 8
1459 GLN007 Glans Penis Cancer 7
1460 CWP002 Cowper Gland Carcinoma 7
1461 UTR041 Uterine Ligament Cancer 7
1462 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 7
1463 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
1464 FLL030 Fallopian Tube Germ Cell Cancer 7
1465 TST002 Testicular Brenner Tumor 7
1466 MLG146 Malignant Germ Cell Tumor of the Vagina 6
1467 TST006 Testicular Monophasic Choriocarcinoma 6
1468 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 6
1469 MLG165 Malignant Non-Epithelial Tumor of Ovary 6
1470 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
1471 PNS011 Penis Verrucous Carcinoma 6
1472 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
1473 PNS006 Penis Papillary Carcinoma 6
1474 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
1475 VGN022 Vaginal Squamous Tumor 5
1476 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 5
1477 BCR004 Bicervical Bicornuate Uterus with Patent Cervix and Vagina 5
1478 PNS001 Penis Non-Invasive Verrucous Carcinoma 5
1479 LTT003 Littre Gland Carcinoma 5
1480 c FRG006 Fragile X Syndrome Type 3 4
1481 c FRG005 Fragile X Syndrome Type 2 4
1482 c FRG004 Fragile X Syndrome Type 1 4
1483 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
1484 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
1485 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1486 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
1487 FML007 Familiar Fallopian Tube Carcinoma 4
1488 RRN007 Rare Non-Malformative Gynecologic or Obstetric Disease 3
1489 GNT003 Genital Herpes 53
1490 P NNN008 Noonan Syndrome 1 76
1491 MCC012 Mccune-Albright Syndrome 71
1492 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
1493 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 66
1494 VGN017 Vaginal Cancer 63
1495 ACR007 Acromegaly 63
1496 PRL009 Prolactinoma 63
1497 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62
1498 CHC001 Chickenpox 60
1499 LRN001 Laurence-Moon Syndrome 56
1500 LMY014 Leiomyoma, Uterine 56
1501 TRC096 Trichothiodystrophy 55
1502 P ANT006 Antiphospholipid Syndrome 55
1503 OVR044 Ovarian Carcinosarcoma 55
1504 P MRT010 Martsolf Syndrome 1 53
1505 SCH071 Schaaf-Yang Syndrome 52
1506 c NNN010 Noonan Syndrome 3 52
1507 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 51
1508 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 51
1509 c 46X082 46,xy Sex Reversal 50
1510 c 46X049 46,xy Sex Reversal 2 49
1511 BRS056 Breast Metaplastic Carcinoma 49
1512 OVR112 Ovarian Germ Cell Cancer 48
1513 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 47
1514 49X006 49, Xxxxy Syndrome 45
1515 PNL025 Penile Benign Neoplasm 44
1516 c NNN009 Noonan Syndrome 2 44
1517 EST007 Estrogen Resistance 42
1518 P TST026 Testicular Germ Cell Cancer 42
1519 c NNN012 Noonan Syndrome 5 42
1520 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 42
1521 LKP003 Leukoplakia 41
1522 VNS015 Van Esch-O'driscoll Syndrome 41
1523 c 46X055 46,xy Sex Reversal 3 40
1524 c NNN021 Noonan Syndrome 8 40
1525 c NNN011 Noonan Syndrome 4 40
1526 KRK001 Krukenberg Carcinoma 40
1527 c 46X017 46,xy Sex Reversal 6 38
1528 c NNN020 Noonan Syndrome 7 38
1529 OVR047 Ovarian Cystadenocarcinoma 38
1530 c NNN025 Noonan Syndrome 10 36
1531 c NNN013 Noonan Syndrome 6 36
1532 48X002 48,xxxy Syndrome 35
1533 LMB008 Limb-Mammary Syndrome 35
1534 CHR076 Choriocarcinoma of the Testis 35
1535 c NNN024 Noonan Syndrome 9 33
1536 SPR018 Spermatocytoma 33
1537 c NNN034 Noonan Syndrome 12 33
1538 c 46X047 46,xy Sex Reversal 7 32
1539 c NNN036 Noonan Syndrome 13 31
1540 EMB006 Embryonal Testis Carcinoma 31
1541 P VGN018 Vaginal Carcinosarcoma 31
1542 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 30
1543 c NNN029 Noonan Syndrome 11 30
1544 HYP344 Hyperthyroidism, Familial Gestational 30
1545 c 46X048 46,xx Sex Reversal 2 27
1546 c 46X046 46,xy Sex Reversal 4 26
1547 HYP683 Hypogonadism-Cataract Syndrome 25
1548 RNL039 Renal Dysplasia-Limb Defects Syndrome 25
1549 c NNN038 Noonan Syndrome 14 24
1550 c 46X059 46,xx Sex Reversal 4 24
1551 c 46X058 46,xy Sex Reversal 10 24
1552 c 46X056 46,xy Sex Reversal 5 23
1553 c MRT011 Martsolf Syndrome 2 22
1554 c ANT041 Antiphospholipid Syndrome, Familial 21
1555 c 46X050 46,xx Sex Reversal 3 19
1556 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 18
1557 49X005 49, Xxxyy Syndrome 17
1558 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 16
1559 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1560 RRG074 Rare Gynecological Tumor 15
1561 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
1562 VGN004 Vaginal Yolk Sac Tumor 14
1563 OVR055 Ovarian Papillary Neoplasm 13
1564 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 12
1565 RND001 Round Ligament Malignant Neoplasm 8
1566 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1567 PLM023 Pulmonary Artery Choriocarcinoma 7
1568 CHL176 Childhood Cns Choriocarcinoma 7
1569 CHL038 Childhood Choriocarcinoma of the Ovary 7
1570 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 7
1571 P ADL024 Adult Central Nervous System Choriocarcinoma 7
1572 CHL048 Childhood Teratocarcinoma of the Testis 6
1573 TST009 Testis Refractory Cancer 6
1574 c CHR461 Choriocarcinoma of the Central Nervous System 5
1575 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 4
1576 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 4
1577 P HRP006 Herpes Simplex 64
1578 ANG005 Anogenital Venereal Wart 56
1579 c CNG100 Congenital Herpes Simplex 34
1580 P PLY014 Polycystic Kidney Disease 70
1581 c ATS347 Autosomal Dominant Polycystic Kidney Disease 69
1582 CHR103 Charge Syndrome 66
1583 ADR016 Adrenal Cortical Carcinoma 66
1584 HYP020 Hyperprolactinemia 64
1585 c HYD046 Hydatidiform Mole, Recurrent, 1 60
1586 P 46X052 46,xx Sex Reversal 1 59
1587 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 57
1588 P TWN003 Townes-Brocks Syndrome 56
1589 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
1590 ARM004 Aromatase Excess Syndrome 54
1591 HND004 Hand-Foot-Genital Syndrome 49
1592 GRD009 Gordon Holmes Syndrome 49
1593 PLR023 Polr3-Related Leukodystrophy 47
1594 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 47
1595 QBC001 Quebec Platelet Disorder 45
1596 P PRM001 Primary Cutaneous Amyloidosis 44
1597 ARM001 Aromatase Deficiency 43
1598 c HYP651 Hypogonadotropic Hypogonadism 23 with or Without Anosmia 43
1599 PNS010 Penis Squamous Cell Carcinoma 42
1600 c 46X079 46,xy Sex Reversal 11 42
1601 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 41
1602 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 41
1603 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 40
1604 UTR042 Uterus Leiomyosarcoma 40
1605 c TWN011 Townes-Brocks Syndrome 1 35
1606 DTH005 Diethylstilbestrol Syndrome 34
1607 OVR050 Ovarian Embryonal Carcinoma 34
1608 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 32
1609 c PLY176 Polycystic Kidney Disease 4 29
1610 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 27
1611 c TWN010 Townes-Brocks Syndrome 2 26
1612 c PLY141 Polycystic Kidney Disease 5 24
1613 c HYD041 Hydatidiform Mole, Recurrent, 2 23
1614 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 21
1615 c PLY189 Polycystic Kidney Disease 7 18
1616 OVR004 Ovary Neuroendocrine Neoplasm 16
1617 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 16
1618 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 16
1619 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 6
1620 EMB004 Embryonal Carcinoma 55
1621 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 67
1622 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
1623 P PLY011 Polycystic Ovary Syndrome 59
1624 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 58
1625 ULN003 Ulnar-Mammary Syndrome 58
1626 AND020 Androgen Insensitivity, Partial 57
1627 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 56
1628 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
1629 PSD021 Pseudovaginal Perineoscrotal Hypospadias 46
1630 PLN006 Poland Syndrome 46
1631 P END039 Endodermal Sinus Tumor 44
1632 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 44
1633 TST004 Testicular Lymphoma 43
1634 PRP098 Proprotein Convertase 1/3 Deficiency 42
1635 GST052 Gestational Choriocarcinoma 37
1636 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 23
1637 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 18
1638 c ADL047 Adult Endodermal Sinus Tumor 7
1639 P ATX030 Ataxia-Telangiectasia 81
1640 P PRM011 Primary Ciliary Dyskinesia 69
1641 P RTH006 Rothmund-Thomson Syndrome, Type 2 69
1642 ADR049 Adrenal Hypoplasia, Congenital 57
1643 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 56
1644 BSM002 Bosma Arhinia Microphthalmia Syndrome 42
1645 c CLR114 Ciliary Dyskinesia, Primary, 30 40
1646 c CLR140 Ciliary Dyskinesia, Primary, 40 38
1647 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 38
1648 c CLR105 Ciliary Dyskinesia, Primary, 20 37
1649 c RTH007 Rothmund-Thomson Syndrome, Type 1 35
1650 c CLR098 Ciliary Dyskinesia, Primary, 27 34
1651 c CLR090 Ciliary Dyskinesia, Primary, 22 33
1652 c CLR125 Ciliary Dyskinesia, Primary, 33 32
1653 c CLR069 Ciliary Dyskinesia, Primary, 8 31
1654 c CLR116 Ciliary Dyskinesia, Primary, 29 31
1655 c CLR138 Ciliary Dyskinesia, Primary, 38 31
1656 c CLR143 Ciliary Dyskinesia, Primary, 43 30
1657 c CLR067 Ciliary Dyskinesia, Primary, 4 29
1658 c CLR106 Ciliary Dyskinesia, Primary, 26 29
1659 c CLR123 Ciliary Dyskinesia, Primary, 37 28
1660 c CLR097 Ciliary Dyskinesia, Primary, 23 28
1661 c CLR117 Ciliary Dyskinesia, Primary, 32 26
1662 c CLR107 Ciliary Dyskinesia, Primary, 24 25
1663 c CLR088 Ciliary Dyskinesia, Primary, 21 24
1664 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
1665 c CLR139 Ciliary Dyskinesia, Primary, 39 24
1666 c CLR142 Ciliary Dyskinesia, Primary, 42 24
1667 c CLR126 Ciliary Dyskinesia, Primary, 35 23
1668 c CLR124 Ciliary Dyskinesia, Primary, 34 22
1669 c CLR144 Ciliary Dyskinesia, Primary, 44 21
1670 c CLR147 Ciliary Dyskinesia, Primary, 46 19
1671 c CLR141 Ciliary Dyskinesia, Primary, 41 19
1672 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
1673 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1674 FRS002 Frasier Syndrome 57
1675 STY001 Satoyoshi Syndrome 31
1676 P LPR021 Leprosy 3 71
1677 c LPR022 Leprosy 2 26
1678 c LPR023 Leprosy 1 24
1679 c LPR017 Leprosy 5 18
1680 c LPR016 Leprosy 4 15
1681 c LPR020 Leprosy 6 14



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