Reproductive Diseases Category (1594 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 61
2 XLN107 X-Linked Lissencephaly with Abnormal Genitalia 27
3 P LSS036 Lissencephaly, X-Linked, 1 47
4 c LSS037 Lissencephaly, X-Linked, 2 36
5 HYP856 Hypothyroidism, Central, with Testicular Enlargement 37
6 GRN022 Granulosa Cell Tumor of the Ovary 34
7 ADN028 Adenosarcoma of the Uterus 19
8 CLF044 Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 30
9 P FRN036 Frontonasal Dysplasia 1 44
10 PNS014 Penis Agenesis 36
11 TST043 Testicular Seminoma 31
12 c FRN033 Frontonasal Dysplasia 2 29
13 c FRN032 Frontonasal Dysplasia 3 27
14 HML049 Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities 16
15 c SX2003 Six2-Related Frontonasal Dysplasia 14
16 SPR122 Sperm-Specific Antigen 1 11
17 MCH007 Meacham Winn Culler Syndrome 7
18 NNR008 Non-Recovering Obstetric Brachial Plexus Lesion 7
19 TST035 Testicular Anomalies with or Without Congenital Heart Disease 19
20 PRS119 Persistent Genital Arousal Disorder 18
21 TRC003 Trichomoniasis 53
22 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 36
23 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 35
24 ACR096 Acromesomelic Dysplasia, Demirhan Type 29
25 YCH001 Y Chromosome Infertility 27
26 PNS015 Penoscrotal Transposition 25
27 OVR035 Ovary Leiomyosarcoma 24
28 MGC006 Magic Syndrome 14
29 OVR023 Ovary Rhabdomyosarcoma 7
30 P PLV020 Pelvic Organ Prolapse 58
31 P RBN002 Robinow Syndrome 51
32 c RBN018 Robinow Syndrome, Autosomal Dominant 1 50
33 c ATS082 Autosomal Dominant Robinow Syndrome 46
34 CRB204 Cerebellar, Ocular, Craniofacial, and Genital Syndrome 28
35 c TST046 Testicular Germ Cell Tumor 1 26
36 c RBN023 Robinow Syndrome, Autosomal Recessive 2 26
37 HRR005 Harrod Syndrome 20
38 MYT025 Myotubular Myopathy with Abnormal Genital Development 19
39 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 15
40 c RR2001 Ror2-Related Robinow Syndrome 13
41 VGN024 Vagina, Absence of 12
42 GLY100 Glycerol Kinase 2 12
43 FCT031 Faciothoracogenital Syndrome 12
44 NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 11
45 c PLV014 Pelvic Organ Prolapse 2 10
46 CHN024 Chondrodysplasia Acromesomelic with Genital Anomalies 9
47 FLR004 Florid Cystic Endosalpingiosis of the Uterus 8
48 GLY101 Glycerol Kinase 3 Pseudogene 7
49 BRN052 Brenner Tumor of the Vagina 4
50 GNT136 Genetic Disorder of Sex Development of Gynecological Interest 3
51 RRG007 Rare Genetic Gynecological and Obstetrical Diseases 3
52 MCK005 Mckusick-Kaufman Syndrome 61
53 LST001 Listeriosis 59
54 P DSR090 Disorder of Sexual Development 44
55 ADN020 Adenosarcoma 42
56 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 30
57 TST025 Testicular Microlithiasis 29
58 MTH082 Methemoglobinemia and Ambiguous Genitalia 22
59 c 46X011 46, Xy Disorders of Sexual Development 20
60 SHR123 Short Stature and Microcephaly with Genital Anomalies 19
61 OVR073 Ovarian Remnant Syndrome 14
62 CHL123 Chlamydia 58
63 c RBN022 Robinow Syndrome, Autosomal Recessive 1 55
64 VRC001 Varicocele 48
65 HMN048 Human Papillomavirus Infectious Disease 46
66 HYP784 Hypogonadism, Male 43
67 LCH016 Lichen Sclerosus Et Atrophicus 42
68 ADN014 Adenomatoid Tumor 30
69 SHR089 Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome 16
70 BSC006 Buschke-Lowenstein Tumor 14
71 P SYP003 Syphilis 59
72 ANS023 Anus, Imperforate 56
73 c BRT050 Bartter Syndrome, Type 2, Antenatal 46
74 c BRT052 Bartter Syndrome, Type 1, Antenatal 43
75 c CNG033 Congenital Syphilis 40
76 c SCN006 Secondary Syphilis 36
77 P ANT061 Antenatal Bartter Syndrome 36
78 c RBN020 Robinow Syndrome, Autosomal Dominant 3 34
79 c LTC001 Late Congenital Syphilis 33
80 c PRM022 Primary Syphilis 32
81 c ERL002 Early Congenital Syphilis 31
82 MSC021 Mosaic Trisomy 9 31
83 PNL023 Penile Agenesis 26
84 c BRT049 Bartter Syndrome, Type 5, Antenatal, Transient 22
85 NNS042 Nonsyndromic Disorders of Testicular Development 20
86 FCD002 Faciodigitogenital Syndrome, Autosomal Recessive 19
87 PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 19
88 HTR026 Heterotaxy, Visceral, 9, Autosomal, with Male Infertility 19
89 KR001 Koro 18
90 ATM023 Autoimmune Oophoritis 16
91 ENL011 Enolase, Sperm Specific 11
92 c TRN078 Transient Antenatal Bartter Syndrome 9
93 MCR053 Microcephaly Micropenis Convulsions 8
94 SHV002 Sohval Soffer Syndrome 7
95 SPR117 Sperm Protamine P4 6
96 BCL015 Baculum, Congenital Absence of 6
97 TMR023 Tumor of Testis and Paratestis 5
98 CLL019 Calloso-Genital Dysplasia 4
99 GNT015 Genital Dwarfism 4
100 FCS007 Facio Skeletal Genital Syndrome Rippberger Type 3
101 GNT056 Genetic Gynecological Tumor 2
102 FCD001 Facio Digito Genital Syndrome Recessive Form 1
103 GNT016 Genital Dwarfism, Turner Type 1
104 c HYP595 Hypertension, Essential 85
105 P NNN008 Noonan Syndrome 1 77
106 CHR103 Charge Syndrome 66
107 P KLL001 Kallmann Syndrome 65
108 P END044 Endometriosis 62
109 P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 60
110 BRS051 Breast Disease 58
111 PRS047 Prostatitis 58
112 PRM013 Premature Menopause 58
113 AMN001 Amenorrhea 54
114 c CNT075 Central Precocious Puberty 53
115 P HYP730 Hypogonadotropic Hypogonadism 53
116 PRS045 Prostatic Hypertrophy 53
117 P CRV039 Cervicitis 52
118 P TRT010 Teratoma 51
119 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 49
120 LPR001 Lepromatous Leprosy 49
121 VGN019 Vaginal Discharge 47
122 ANV001 Anovulation 47
123 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46
124 P ATM019 Autoimmune Polyendocrine Syndrome 46
125 P END046 Endometritis 46
126 END080 Endometrial Disease 45
127 DYS101 Dysgerminoma 44
128 P HRD018 Hair Disease 44
129 TTR011 Tetraploidy 43
130 PRS021 Prostatic Adenoma 43
131 VLV044 Vulvar Intraepithelial Neoplasia 43
132 c 46X030 46,xy Sex Reversal 9 43
133 PRG014 Progesterone Resistance 42
134 P HYP078 Hypertrophy of Breast 41
135 PRM020 Premenstrual Tension 39
136 LKP003 Leukoplakia 39
137 P PYR039 Peyronie Disease 39
138 c BNG093 Benign Teratoma 39
139 PST029 Postmenopausal Atrophic Vaginitis 38
140 SRT002 Sertoli Cell Tumor 38
141 P SYR003 Syringoma 38
142 PHM001 Phimosis 38
143 c NNN020 Noonan Syndrome 7 38
144 PNL013 Penile Disease 38
145 EST004 Estrogen Excess 38
146 c MLG081 Malignant Teratoma 38
147 c MLG049 Malignant Syringoma 37
148 BLN010 Balanitis 36
149 OLG022 Oligoasthenoteratozoospermia 36
150 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 36
151 CRV025 Cervical Incompetence 35
152 c BNG029 Benign Struma Ovarii 33
153 BWN003 Bowenoid Papulosis 33
154 c CHR085 Chronic Cervicitis 32
155 CRV028 Cervical Adenosarcoma 32
156 GRN033 Granulomatous Mastitis 32
157 EPD018 Epididymo-Orchitis 31
158 GRN005 Granuloma Inguinale 31
159 TYL001 Taylor's Syndrome 31
160 VLV008 Vulvitis 31
161 END016 Endocervicitis 31
162 ACT048 Acute Gonococcal Cervicitis 31
163 BLN009 Balanoposthitis 31
164 c ACT066 Acute Cervicitis 30
165 3MC004 3mc Syndrome 3 29
166 OVR017 Ovarian Cystic Teratoma 29
167 MCR379 Microcystic Stromal Tumor 29
168 c ADL057 Adult Teratoma 29
169 P CHR200 Chromosome 16 Trisomy 29
170 VLV015 Vulvar Dystrophy 29
171 PRP013 Paraphimosis 28
172 PRL004 Prolapse of Urethra 28
173 CYS015 Cystadenofibroma 28
174 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28
175 INH002 Inhibited Male Orgasm 28
176 VSD001 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 28
177 PRM087 Premature Chromatid Separation Trait 27
178 c 46X017 46,xy Sex Reversal 6 27
179 IDP034 Idiopathic Central Precocious Puberty 27
180 INH003 Inhibited Female Orgasm 27
181 DPH012 Diphallia 27
182 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
183 MSC016 Mosaic Trisomy 14 26
184 FBR016 Fibrosclerosis of Breast 26
185 END003 Endometrial Stromal Nodule 26
186 c CHR227 Chromosome 20 Trisomy 26
187 SLP002 Salpingitis Isthmica Nodosa 25
188 BNG025 Benign Mammary Dysplasia 25
189 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
190 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
191 INF025 Infected Hydrocele 25
192 VLV019 Vulvar Syringoma 24
193 c PRM207 Premature Ovarian Failure 10 24
194 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24
195 PRS007 Prostate Calculus 24
196 PRT028 Paratesticular Lipoma 24
197 HYP181 Hypertrichosis Lanuginosa, Acquired 24
198 c CHR099 Chronic Salpingitis 24
199 PRD041 Periodic Fever, Menstrual Cycle-Dependent 24
200 c ACT069 Acute Endometritis 23
201 c 46X058 46,xy Sex Reversal 10 23
202 c 46X059 46,xx Sex Reversal 4 23
203 EPD088 Epididymis Disease 23
204 c OVR107 Ovarian Dysgenesis 4 23
205 c NNN029 Noonan Syndrome 11 23
206 CRV010 Cervix Erosion 23
207 NDL006 Nodular Prostate 23
208 c OCY006 Oocyte Maturation Defect 5 23
209 INV018 Invasive Mole 23
210 c OVR102 Ovarian Dysgenesis 3 23
211 UTR028 Uterine Corpus Adenosarcoma 22
212 GRN001 Granulomatous Endometritis 22
213 c INT005 Intermediate Malignant Teratoma 22
214 VGN015 Vaginal Adenoma 22
215 RTV004 Rete Ovarii Adenoma 22
216 RTT003 Rete Testis Adenoma 22
217 PRS005 Prostate Angiosarcoma 22
218 c PRM192 Premature Ovarian Failure 8 22
219 c END071 Endometriosis 1 21
220 PRS022 Prostate Leiomyoma 21
221 CRV006 Cervix Endometriosis 21
222 c ACT081 Acute Salpingitis 21
223 c CHR017 Chronic Gonococcal Salpingitis 21
224 UTR054 Uterine Hypoplasia 21
225 c OCY002 Oocyte Maturation Defect 2 20
226 FTN001 Fat Necrosis of Breast 20
227 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 20
228 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
229 c PRM295 Premature Ovarian Failure 15 20
230 c HRN019 Hair-an Syndrome 20
231 PYM002 Pyometritis 19
232 GRN002 Granulomatous Orchitis 19
233 c OVR120 Ovarian Dysgenesis 8 19
234 PRS014 Prostatic Cyst 19
235 c OCY005 Oocyte Maturation Defect 4 19
236 PRS032 Prostate Leiomyosarcoma 19
237 MLN056 Male Infertility with Teratozoospermia Due to Single Gene Mutation 19
238 c LPR017 Leprosy 5 19
239 ATR008 Atrophy of Prostate 18
240 ATR007 Atrophic Vulva 18
241 c FML266 Female Infertility Due to Zona Pellucida Defect 18
242 OVR001 Ovarian Stromal Hyperthecosis 18
243 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
244 c PRM255 Premature Ovarian Failure 12 17
245 c 46X060 46,xx Disorder of Sex Development 17
246 c OCY008 Oocyte Maturation Defect 7 16
247 SMN002 Seminal Vesicle Cystadenoma 16
248 CTM001 Catamenial Pneumothorax 15
249 c KLL007 Kallmann Syndrome 5 15
250 SCR005 Scrotum Paget's Disease 15
251 c HYP545 Hypospadias 3, Autosomal 14
252 ACT024 Acute Gonococcal Prostatitis 14
253 LNG081 Longitudinal Vaginal Septum 14
254 TRN046 Transverse Vaginal Septum 14
255 c OCY009 Oocyte Maturation Defect 8 14
256 OVR039 Ovarian Mesodermal Adenosarcoma 14
257 10Q004 10q26 Deletion Syndrome 13
258 XSM001 X Small Rings 12
259 ULC001 Ulceration of Vulva 12
260 c KLL006 Kallmann Syndrome 4 12
261 P ACT023 Acute Gonococcal Salpingitis 12
262 HYM002 Hymen, Imperforate 12
263 LMY012 Leiomyosarcoma of the Cervix Uteri 11
264 c HYP449 Hypertension, Essential 3 11
265 P OVR052 Ovarian Endometrioid Adenofibroma 11
266 c ACT031 Acute Salpingo-Oophoritis 11
267 c SYR009 Syringomas, Multiple 11
268 c OCY011 Oocyte Maturation Defect 10 11
269 OVR031 Ovarian Papillary Cystadenoma 10
270 c HYP454 Hypertension, Essential 8 10
271 FML002 Female Infertility of Uterine Origin 10
272 UTR010 Uterine Cervix Leukoplakia 9
273 CRV023 Cervical Adenofibroma 9
274 PRS020 Prostatocystitis 9
275 LTR006 Lateral Cystocele 8
276 CRV016 Cervical Wilms' Tumor 8
277 CRV018 Cervix Squamous Papilloma 8
278 ACT039 Acute Gonococcal Epididymo-Orchitis 8
279 PRC053 Precocious Puberty in Female 8
280 SLT004 Solitary Cyst of Breast 8
281 PRN004 Perineocele 8
282 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 8
283 END009 Endometriosis of Pelvic Peritoneum 7
284 VGN008 Vaginal Spindle Cell Epithelioma 7
285 VLV040 Vulvar Squamous Papilloma 7
286 UTR036 Uterine Corpus Leiomyomatosis 7
287 MDL004 Midline Cystocele 7
288 MCR007 Micropapillomatosis Labialis 7
289 TST008 Testis Polyembryoma 7
290 c HYP869 Hypertension Due to Gain-of-Function Mutations in the Mineralocorticoid Receptor 7
291 UTR005 Uterine Corpus Adenomatoid Tumor 6
292 CHR030 Chronic Gonorrhea of Cervix 6
293 END023 Endocervical Type Cervical Adenomyoma 6
294 CRV017 Cervical Mullerian Papilloma 6
295 ISL100 Isolated Congenital Breast Hypoplasia/aplasia 6
296 GNT034 Giant Adenofibroma of the Breast 6
297 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 6
298 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
299 UTR015 Uterine Corpus Myxoid Leiomyoma 5
300 VLV022 Vulvar Trichoepithelioma 5
301 UTR021 Uterine Corpus Myxoid Leiomyosarcoma 5
302 UTR007 Uterine Corpus Apoplectic Leiomyoma 5
303 END022 Endometrial Type Cervical Adenomyoma 5
304 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
305 MKT001 Mikati-Najjar-Sahli Syndrome 5
306 OVR014 Ovarian Clear Cell Cystadenofibroma 5
307 UTR059 Uterovaginal Malformation 5
308 CRV041 Cervix Endometrial Stromal Tumor 5
309 NNS001 Non Specific Chronic Endometritis 5
310 RTV001 Rete Ovarii Cystadenoma 5
311 UTR055 Uterine Cervical Aplasia and Agenesis 5
312 NNC016 Non-Acquired Premature Ovarian Failure 5
313 HYP033 Hypertrophic Elongation of Cervix 5
314 c INF020 Infertility Due to Extratesticular Cause 4
315 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
316 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
317 c PRM353 Primary Ovarian Insufficiency 4 4
318 c PRM354 Primary Ovarian Insufficiency 5 4
319 c PRM356 Primary Ovarian Insufficiency 7 4
320 c PRM359 Primary Ovarian Insufficiency 10 4
321 c PRM364 Primary Ovarian Insufficiency 15 4
322 c PRM365 Primary Ovarian Insufficiency 16 4
323 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
324 TMX001 Tamoxifen-Related Endometrial Lesion 3
325 c FRG004 Fragile X Syndrome Type 1 3
326 ATS478 Autosomal Recessive Congenital Bilateral Absence of Vas Deferens 3
327 ANM050 Anomaly of Puberty or/and Menstrual Cycle 3
328 SYN099 Syndromic Breast Hypoplasia/aplasia 3
329 DFC007 Deficient Breast Volume or Number 3
330 EXC006 Excess Breast Volume or Number 3
331 ADN059 Adenosarcoma of the Corpus Uteri 3
332 END089 Endocrinopathy with Congenital Hypogonadotropic Hypogonadism As a Major Feature 3
333 NMR001 Numeric Sex Chromosome Variations 2
334 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 23
335 MRB006 Morbid Obesity and Spermatogenic Failure 21
336 CRC021 Carcinosarcoma 64
337 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 41
338 ANT057 Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis 36
339 MLG163 Malignant Tumor of Penis 29
340 DBL008 Double Uterus-Hemivagina-Renal Agenesis 18
341 RNL112 Renal, Genital, and Middle Ear Anomalies 13
342 ADN086 Adenocarcinoma of the Penis 10
343 AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57
344 BLD130 Bladder Exstrophy 42
345 CYT014 Cytochrome P450 Oxidoreductase Deficiency 34
346 SCR025 Scarf Syndrome 24
347 PRD014 Prader-Willi Habitus, Osteopenia, and Camptodactyly 19
348 ORL005 Oral Candidiasis 56
349 UTR043 Uterine Sarcoma 40
350 PGM001 Pigmented Villonodular Synovitis 55
351 BRT059 Bartsocas-Papas Syndrome 54
352 ADR049 Adrenal Hypoplasia, Congenital 53
353 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
354 c TRC103 Trichothiodystrophy 5, Nonphotosensitive 45
355 c TRC101 Trichothiodystrophy 4, Nonphotosensitive 41
356 CHN002 Chancroid 36
357 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 34
358 EXT025 Extragonadal Germ Cell Cancer 31
359 BNG041 Benign Metastasizing Leiomyoma 29
360 RB1001 Rab18 Deficiency 22
361 PRP011 Puerperal Pulmonary Embolism 22
362 c TRC117 Trichothiodystrophy 6, Nonphotosensitive 20
363 P NNP004 Nonphotosensitive Trichothiodystrophy 20
364 BMR004 Beemer Lethal Malformation Syndrome 19
365 c TRC125 Trichothiodystrophy 7, Nonphotosensitive 19
366 HYP816 Hypertelorism and Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, and Recurrent Inflammatory Episodes 12
367 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 11
368 GRN023 Green Sandford Davison Syndrome 7
369 CLB004 Calabro Syndrome 5
370 ALP029 Alpha-Thalassemia-Abnormal Morphogenesis 4
371 RRG035 Rare Genetic Disorder with Obstructive Azoospermia 3
372 INH033 Inherited Gynecological Cancer-Predisposing Syndrome 3
373 P RTH006 Rothmund-Thomson Syndrome, Type 2 67
374 P TRN020 Turner Syndrome 67
375 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
376 c PRC016 Pre-Eclampsia 65
377 GST033 Gestational Diabetes 61
378 P BRS044 Breast Adenocarcinoma 58
379 CRV038 Cervical Squamous Cell Carcinoma 58
380 P INF032 Infertility 57
381 PRT082 Preterm Premature Rupture of the Membranes 57
382 ADN027 Adenomyosis 57
383 ULN003 Ulnar-Mammary Syndrome 56
384 TRC096 Trichothiodystrophy 55
385 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 55
386 HLL004 Hellp Syndrome 53
387 MST005 Mastitis 53
388 P ECL001 Eclampsia 52
389 c PYR010 Peyronie's Disease 50
390 c SVR005 Severe Pre-Eclampsia 50
391 VLV011 Vulvovaginal Candidiasis 49
392 c BRD020 Bardet-Biedl Syndrome 8 49
393 VGN020 Vaginal Disease 48
394 MLL001 Molluscum Contagiosum 48
395 END062 Endometrial Hyperplasia 48
396 c CRV002 Cervix Uteri Carcinoma in Situ 47
397 PLC007 Placental Abruption 47
398 VLV036 Vulvar Disease 47
399 PSD009 Pseudohermaphroditism 46
400 CHR074 Choriocarcinoma 46
401 P OVR046 Ovarian Cyst 46
402 P UTR058 Uterine Anomalies 46
403 P LPR012 Leopard Syndrome 1 46
404 P OCY003 Oocyte Maturation Defect 1 46
405 HYD005 Hydrocele 46
406 TST044 Testicular Torsion 45
407 END031 Endometrial Stromal Sarcoma 45
408 OLG001 Oligospermia 45
409 AZS001 Azoospermia 45
410 ORC001 Orchitis 44
411 UTR033 Uterine Corpus Cancer 44
412 END085 Endometrial Serous Adenocarcinoma 43
413 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 43
414 VLV010 Vulvovaginitis 42
415 SMN007 Seminoma 42
416 FLL029 Fallopian Tube Disease 42
417 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 41
418 c BRD044 Bardet-Biedl Syndrome 17 41
419 EST007 Estrogen Resistance 41
420 c CLR136 Ciliary Dyskinesia, Primary, 9 41
421 PRM008 Parametritis 40
422 P SLP003 Salpingitis 40
423 c PLY105 Polycystic Ovary Syndrome 1 39
424 URT004 Urethral Syndrome 39
425 END011 Endometriosis of Ovary 39
426 PLC006 Placental Choriocarcinoma 38
427 P ACT244 Acth-Independent Cushing Syndrome 38
428 END075 Endocervical Adenocarcinoma 37
429 OVR105 Ovarian Serous Carcinoma 37
430 END007 Endosalpingiosis 37
431 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
432 c RTH007 Rothmund-Thomson Syndrome, Type 1 37
433 FML039 Female Reproductive System Disease 36
434 CRV069 Cervix Disease 36
435 RPR002 Reproductive System Disease 36
436 SPR017 Spermatocele 36
437 HRM002 Hermaphroditism 35
438 c BNG021 Benign Essential Hypertension 35
439 c LPR011 Leopard Syndrome 2 35
440 P MXD016 Mixed Gonadal Dysgenesis 35
441 c LPR022 Leprosy 2 34
442 c CLR042 Ciliary Dyskinesia, Primary, 6 34
443 END043 Endometrial Stromal Tumor 34
444 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 33
445 CRV013 Cervical Adenoid Cystic Carcinoma 33
446 PRT049 Partial Deletion of Y 33
447 c SPR088 Spermatogenic Failure 7 33
448 PRS004 Prostate Squamous Cell Carcinoma 32
449 c MLG059 Malignant Struma Ovarii 31
450 ADH001 Adhesions of Uterus 31
451 c CLR094 Ciliary Dyskinesia, Primary, 28 31
452 SPT023 Septate Uterus 30
453 OVR041 Ovarian Benign Neoplasm 30
454 PLY036 Polyembryoma 30
455 UTR032 Uterine Body Mixed Cancer 30
456 BLN002 Balanitis Xerotica Obliterans 30
457 SBM005 Submucous Uterine Fibroid 29
458 END013 Endometrial Small Cell Carcinoma 29
459 OVR048 Ovarian Cystadenoma 29
460 END018 Endometrium Carcinoma in Situ 29
461 PRS043 Prostate Rhabdomyosarcoma 29
462 c MLG053 Malignant Ovarian Brenner Tumor 29
463 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 29
464 OVR097 Ovarian Fibrothecoma 28
465 c OVR076 Ovarian Dysgenesis 2 28
466 UTR031 Uterine Benign Neoplasm 28
467 MLR007 Male Reproductive System Disease 28
468 PRS009 Prostate Stromal Sarcoma 28
469 TBR003 Tuberculous Epididymitis 28
470 c SPR092 Spermatogenic Failure, Y-Linked, 1 28
471 EPD017 Epididymis Cancer 28
472 c CLR069 Ciliary Dyskinesia, Primary, 8 28
473 SMN005 Seminal Vesicle Adenocarcinoma 28
474 PLY004 Polyp of Corpus Uteri 28
475 UTR020 Uterine Inversion 27
476 TBR002 Tuberculous Salpingitis 27
477 UTR056 Uterine Corpus Endometrial Carcinoma 27
478 c CLR067 Ciliary Dyskinesia, Primary, 4 27
479 HMM001 Hemometra 27
480 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
481 CRV068 Cervical Polyp 27
482 VLV021 Vulval Paget's Disease 27
483 VLV009 Vulvar Leiomyoma 26
484 END015 Endometrial Adenosquamous Carcinoma 26
485 PRS027 Prostate Transitional Cell Carcinoma 26
486 FRN014 Fournier Gangrene 26
487 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
488 c LPR007 Leopard Syndrome 3 26
489 END025 Endometrial Squamous Cell Carcinoma 26
490 CHR010 Chorioangioma 26
491 PRS010 Prostate Embryonal Rhabdomyosarcoma 26
492 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 26
493 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 26
494 LKP001 Leukoplakia of Penis 25
495 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25
496 PRS006 Prostatic Acinar Adenocarcinoma 25
497 c CLR114 Ciliary Dyskinesia, Primary, 30 25
498 CRV036 Cervical Carcinosarcoma 25
499 BRT012 Bartholin's Gland Adenoma 25
500 CRP004 Corpus Luteum Cyst 25
501 PRS044 Prostate Sarcoma 25
502 c PRM090 Premature Ovarian Failure 6 25
503 VLV018 Vulvar Angiokeratoma 24
504 LKR001 Leukorrhea 24
505 P OVR045 Ovarian Clear Cell Adenofibroma 24
506 VLV038 Vulvar Sarcoma 24
507 c CLR092 Ciliary Dyskinesia, Primary, 18 24
508 OVR098 Ovarian Fibroma 24
509 c CLR101 Ciliary Dyskinesia, Primary, 25 24
510 c SPR081 Spermatogenic Failure 11 24
511 c PRM089 Premature Ovarian Failure 3 24
512 c PRM094 Premature Ovarian Failure 5 24
513 c NNN036 Noonan Syndrome 13 24
514 OVR016 Ovarian Endometrioid Stromal Sarcoma 23
515 OVR104 Ovarian Melanoma 23
516 HRD114 Hereditary Site-Specific Ovarian Cancer Syndrome 23
517 ACT245 Acth-Dependent Cushing Syndrome 23
518 c CLR105 Ciliary Dyskinesia, Primary, 20 23
519 VGN005 Vaginal Endometrial Stromal Sarcoma 23
520 c PRM254 Premature Ovarian Failure 11 23
521 P SLP004 Salpingo-Oophoritis 23
522 CRV020 Cervical Non-Keratinizing Squamous Cell Carcinoma 23
523 VLV002 Vulva Basal Cell Carcinoma 23
524 PRT086 Partial Hydatidiform Mole 23
525 ATR009 Atrophy of Testis 22
526 c SPR131 Spermatogenic Failure 28 22
527 c CLR138 Ciliary Dyskinesia, Primary, 38 22
528 RTV008 Rete Ovarii Benign Neoplasm 22
529 EPD012 Epididymal Neoplasm 22
530 VLV039 Vulvar Seborrheic Keratosis 22
531 c PLY176 Polycystic Kidney Disease 4 22
532 PRS019 Prostate Adenoid Cystic Carcinoma 22
533 PDT003 Pediatric Ovarian Dysgerminoma 22
534 MCR015 Microinvasive Cervical Squamous Cell Carcinoma 22
535 VGN016 Vaginal Benign Neoplasm 22
536 c OCY004 Oocyte Maturation Defect 3 22
537 GST035 Gestational Ovarian Choriocarcinoma 21
538 EXC001 Exocervical Carcinoma 21
539 UTR030 Uterine Adnexa Cancer 21
540 c CHR018 Chronic Salpingo-Oophoritis 21
541 c HYD041 Hydatidiform Mole, Recurrent, 2 21
542 PDT022 Pediatric Ovarian Germ Cell Tumor 21
543 P HYP284 Hypospadias 1, X-Linked 21
544 OVR003 Ovarian Angiosarcoma 21
545 ACT057 Acute Gonococcal Endometritis 21
546 VLV035 Vulvar Benign Neoplasm 21
547 SCR017 Scrotum Neoplasm 20
548 c OVR115 Ovarian Dysgenesis 5 20
549 c SPR082 Spermatogenic Failure 10 20
550 c MLG033 Malignant Ovarian Cyst 20
551 DST037 Distal Monosomy 9p 20
552 PSD084 Pseudo-Meigs Syndrome 20
553 c SPR134 Spermatogenic Failure 31 20
554 GYN002 Gynatresia 20
555 c HYP678 Hypertrophy of the Breast, Juvenile 20
556 c PRR033 Perrault Syndrome 6 20
557 FLL006 Fallopian Tube Endometriosis 20
558 BRT060 Bartholin's Gland Disease 19
559 c LYM155 Lymphatic Malformation 8 19
560 SMN006 Seminal Vesicle Tumor 19
561 OVR027 Ovarian Squamous Cell Carcinoma 19
562 SCR016 Scrotal Carcinoma 19
563 ADN007 Adenosquamous Prostate Carcinoma 19
564 c SPR087 Spermatogenic Failure 12 19
565 VGN031 Vaginal Atresia 19
566 c SPR130 Spermatogenic Failure 27 19
567 VLV046 Vulvovaginal Gingival Syndrome 19
568 c OCY007 Oocyte Maturation Defect 6 18
569 c SPR160 Spermatogenic Failure 48 18
570 BRT014 Bartholin's Duct Cyst 18
571 c HYD067 Hydatidiform Mole, Recurrent, 3 18
572 c SPR095 Spermatogenic Failure 14 18
573 P VGN018 Vaginal Carcinosarcoma 17
574 c SPR157 Spermatogenic Failure 45 17
575 VGN010 Vaginal Tubulovillous Adenoma 17
576 VGN011 Vagina Leiomyosarcoma 17
577 SPR064 Supernumerary Breasts 17
578 c SPR133 Spermatogenic Failure 30 17
579 VGN012 Vaginal Adenosarcoma 17
580 VLV026 Vulvar Leiomyosarcoma 17
581 CRV024 Cervical Adenoid Basal Carcinoma 17
582 EXT063 Extrapelvic Endometriosis 17
583 RTT005 Rete Testis Neoplasm 16
584 MLG118 Malignancy Diagnosed During Pregnancy 16
585 CRV029 Cervical Keratinizing Squamous Cell Carcinoma 16
586 c SPR156 Spermatogenic Failure 44 16
587 c SPR159 Spermatogenic Failure 47 16
588 c PST093 Posterior Hypospadias 16
589 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 16
590 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 16
591 SCR013 Scrotum Squamous Cell Carcinoma 15
592 c HYP270 Hypospadias 2, X-Linked 15
593 FLL010 Fallopian Tube Leiomyoma 15
594 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
595 CRV008 Cervical Basaloid Squamous Cell Carcinoma 15
596 c MYC055 Mycobacterium Tuberculosis 3 15
597 c UTR006 Uterine Inflammatory Disease 14
598 c PRS003 Prostate Malignant Phyllodes Tumor 14
599 c OCY010 Oocyte Maturation Defect 9 14
600 CRV032 Cervical Adenomyoma 14
601 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
602 CRC040 Carcinosarcoma of the Cervix Uteri 14
603 P BNG020 Benign Prostate Phyllodes Tumor 13
604 OVR040 Ovarian Clear Cell Cystadenocarcinoma 13
605 DRT001 Dartoic Leiomyoma 13
606 VLV049 Vulvar Basal Cell Carcinoma 13
607 PRL015 Prolapse of Female Genital Organ 13
608 CLT001 Clitoris Cancer 12
609 RHB019 Rhabdomyosarcoma of the Cervix Uteri 12
610 MYX002 Myxoid Liposarcoma of the Ovary 12
611 UND002 Undifferentiated Carcinoma of the Corpus Uteri 12
612 ATY026 Atypical Meigs Syndrome 12
613 CRV034 Cervical Benign Neoplasm 12
614 LPS003 Liposarcoma of the Ovary 12
615 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
616 c HYP447 Hypertension, Essential 1 11
617 ADN061 Adenosarcoma of the Cervix Uteri 11
618 VGN006 Vaginal Endometrial Stromal Tumor 11
619 P CRV009 Cervix Melanoma 11
620 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
621 LKP002 Leukoplakia of Vagina 11
622 VLV001 Vulvar Keratinizing Squamous Cell Carcinoma 10
623 c SCN039 Secondary Central Precocious Puberty 10
624 TBR005 Tuberculous Oophoritis 9
625 END024 Endometrial Transitional Cell Carcinoma 9
626 VLV005 Vulvar Liposarcoma 9
627 CRV012 Cervical Verrucous Carcinoma 9
628 VLV012 Vulvar Granular Cell Tumor 9
629 EPD013 Epididymis Adenomatoid Tumor 9
630 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
631 VLV004 Vulvar Sebaceous Carcinoma 8
632 PLV002 Pelvic Muscle Wasting 8
633 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
634 VLV014 Vulva Fibroepithelial Polyp 8
635 c HYP653 Hypospadias 4, X-Linked 8
636 FLL018 Fallopian Tube Teratoma 8
637 VLV027 Vulvar Keratoacanthoma-Like Carcinoma 8
638 TRN048 Transitional Cell Carcinoma of the Corpus Uteri 8
639 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 7
640 VLV006 Vulva Verrucous Carcinoma 7
641 UTR026 Uterine Corpus Endometrial Stromal Sarcoma 7
642 END010 Endometriosis of Rectovaginal Septum and Vagina 7
643 c RRP025 Rare Precocious Puberty 7
644 c ACQ064 Acquired Premature Ovarian Failure 7
645 OVR019 Ovarian Malignant Mesothelioma 7
646 TST002 Testicular Brenner Tumor 7
647 UTR034 Uterine Corpus Cellular Leiomyoma 7
648 UTR035 Uterine Corpus Choriocarcinoma 7
649 c RRB002 Rare Benign Breast Tumor 7
650 VLV045 Vulvovaginal Rhabdomyosarcoma 7
651 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
652 SCR012 Scrotum Melanoma 7
653 PRS001 Prostate Colloid Adenocarcinoma 7
654 CRV007 Cervical Alveolar Soft Part Sarcoma 7
655 CYS049 Cystadenoma of Childhood 7
656 MLG117 Malignant Germ Cell Tumor of the Cervix Uteri 7
657 SXC003 Sex Cord-Stromal Benign Neoplasm 6
658 MLG025 Male Genital Organ Stricture 6
659 UTR018 Uterine Corpus Bizarre Leiomyoma 6
660 FLL005 Fallopian Tube Adenosarcoma 6
661 CHL036 Childhood Mature Teratoma of the Ovary 6
662 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
663 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 6
664 END012 Endometriosis in Scar of Skin 6
665 PRM017 Parametrium Malignant Neoplasm 6
666 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
667 MNR001 Minor Vestibular Glands Adenoma 6
668 VLV025 Vulvar Alveolar Soft Part Sarcoma 6
669 UTR025 Uterine Corpus Adenofibroma 6
670 BRT009 Bartholin's Gland Adenomyoma 6
671 VLL002 Villoglandular Endometrial Endometrioid Adenocarcinoma 6
672 VLV003 Vulvar Basaloid Squamous Cell Carcinoma 6
673 OVR036 Ovarian Endometrioid Cystadenofibroma 6
674 FLL012 Fallopian Tube Cystadenofibroma 6
675 UTR019 Uterine Corpus Lipoleiomyoma 6
676 GST021 Gestational Uterine Corpus Choriocarcinoma 6
677 P SMN001 Seminal Vesicle Acute Gonorrhea 5
678 VGN003 Vaginal Mullerian Papilloma 5
679 ADN019 Adenomyoma of Uterine Corpus 5
680 OVR028 Ovarian Squamous Cell Neoplasm 5
681 UTR023 Uterine Corpus Epithelioid Leiomyosarcoma 5
682 VGN007 Vaginal Villous Adenoma 5
683 UTR022 Uterine Corpus Atypical Polypoid Adenomyoma 5
684 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
685 PPL043 Papillary Carcinoma of the Cervix Uteri 5
686 VGN022 Vaginal Squamous Tumor 5
687 SCR004 Secretory Uterine Corpus Endometrioid Adenocarcinoma 5
688 VLV028 Vulvar Non-Keratinizing Squamous Cell Carcinoma 5
689 VLV024 Vulvar Clear Cell Hidradenocarcinoma 5
690 GLS005 Glassy Cell Variant Cervical Adenosquamous Carcinoma 5
691 MLG161 Malignant Mixed Epithelial and Mesenchymal Tumor of Corpus Uteri 5
692 HRN002 Hernia of Ovary and Fallopian Tube 5
693 CHR032 Chronic Subinvolution of Uterus 5
694 ACT054 Acute Female Pelvic Peritonitis 5
695 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
696 c PRM358 Primary Ovarian Insufficiency 9 5
697 MXD038 Mixed Extragonadal Germ Cell Cancer 5
698 OVR122 Ovarian Sex Cord-Stromal Benign Neoplasm 5
699 UTR014 Uterine Corpus Epithelioid Leiomyoma 5
700 UTR017 Uterine Corpus Dissecting Leiomyoma 5
701 VLV017 Vulvar Nodular Hidradenoma 5
702 VGN009 Vaginal Tubular Adenoma 5
703 RTV003 Rete Ovarii Cystadenofibroma 5
704 CRV021 Cervical Atypical Polypoid Adenomyoma 5
705 ABS021 Absence of Uterine Body 5
706 CHN007 Chondroid Syringoma of the Vulva 4
707 END026 Endocervical Type Cervical Mucinous Adenocarcinoma 4
708 UTR003 Uterine Corpus Diffuse Leiomyomatosis 4
709 c PRM350 Primary Ovarian Insufficiency 2a 4
710 c PRM355 Primary Ovarian Insufficiency 6 4
711 c PRM361 Primary Ovarian Insufficiency 12 4
712 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
713 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
714 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
715 CHY001 Chylocele of Tunica Vaginalis 4
716 RRD070 Rare Disorder with Multisystemic Involvement and Congenital Hypogonadotropic Hypogonadism 4
717 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
718 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
719 UTR008 Uterine Corpus Adenocarcinofibroma 3
720 RRN006 Rare Non-Malformative Breast Disease 3
721 SYN100 Syndromic Uterovaginal Malformation 3
722 RRD008 Rare Disorder Related with Pregnancy, Childbirth and Puerperium 3
723 RRN008 Rare Non-Malformative Uterovaginal or Vulvovaginal Disease 3
724 NNS049 Non-Syndromic Uterovaginal Malformation 3
725 URG001 Urogenital Tuberculosis 28
726 CLR014 Clear Cell Adenoma 27
727 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 25
728 P CLR037 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 47
729 PTT002 Potter's Syndrome 40
730 c CLR055 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 39
731 c CLR039 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 38
732 c CLR089 Colorectal Cancer, Hereditary Nonpolyposis, Type 8 37
733 TNN015 Tonne-Kalscheuer Syndrome 30
734 c CLR100 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 27
735 BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 20
736 P PRS040 Prostate Cancer 95
737 P OVR042 Ovarian Cancer 88
738 CRV035 Cervical Cancer 73
739 P LPR021 Leprosy 3 71
740 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67
741 PTT048 Pituitary Adenoma, Prolactin-Secreting 64
742 P INT099 Intrahepatic Cholestasis of Pregnancy 62
743 P LMY004 Leiomyosarcoma 62
744 SPP011 Suppression of Tumorigenicity 12 61
745 c HYD046 Hydatidiform Mole, Recurrent, 1 59
746 CRY035 Cryptorchidism, Unilateral or Bilateral 58
747 SPT004 Septic Arthritis 58
748 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
749 VGN023 Vaginitis 56
750 PLC005 Placental Insufficiency 56
751 P MLN007 Male Infertility 56
752 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56
753 FRS002 Frasier Syndrome 54
754 P 46X052 46,xx Sex Reversal 1 54
755 BCT002 Bacterial Vaginosis 53
756 TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 52
757 END002 Endometrioid Ovary Carcinoma 52
758 c 46X082 46,xy Sex Reversal 52
759 CHR005 Chorioamnionitis 50
760 CRV040 Cervix Carcinoma 50
761 c INF023 Inflammatory Breast Carcinoma 49
762 KRT010 Kartagener Syndrome 49
763 P TRC102 Trichothiodystrophy 1, Photosensitive 49
764 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 49
765 c 46X049 46,xy Sex Reversal 2 49
766 PGT003 Paget Disease, Extramammary 47
767 VCT001 Vacterl Association 47
768 PRP007 Priapism 47
769 OVR044 Ovarian Carcinosarcoma 47
770 c SPR086 Spermatogenic Failure 3 46
771 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45
772 LYD001 Leydig Cell Tumor 45
773 FML005 Female Reproductive Endometrioid Cancer 45
774 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 45
775 BRS056 Breast Metaplastic Carcinoma 44
776 P TST026 Testicular Germ Cell Cancer 44
777 c RNG023 Ring Chromosome 7 43
778 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 43
779 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 43
780 PLR023 Polr3-Related Leukodystrophy 42
781 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 42
782 TST015 Testicular Disease 42
783 PRS042 Prostate Disease 42
784 P PRR025 Perrault Syndrome 42
785 ENT001 Enterocele 42
786 PSD021 Pseudovaginal Perineoscrotal Hypospadias 42
787 c SPR162 Spermatogenic Failure 50 42
788 c TRC100 Trichothiodystrophy 3, Photosensitive 41
789 MLR006 Male Reproductive Organ Cancer 41
790 WDH003 Woodhouse-Sakati Syndrome 40
791 c CLR066 Ciliary Dyskinesia, Primary, 2 40
792 KRK001 Krukenberg Carcinoma 39
793 UTR037 Uterine Corpus Sarcoma 39
794 P RNG032 Ring Chromosome 39
795 P OVR010 Ovarian Brenner Tumor 39
796 48X005 48,xyyy 39
797 c BRD048 Bardet-Biedl Syndrome 18 39
798 P STR021 Struma Ovarii 39
799 VLP002 Valproate Embryopathy 38
800 OVR047 Ovarian Cystadenocarcinoma 38
801 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38
802 VLV020 Vulvar Melanoma 37
803 PRP098 Proprotein Convertase 1/3 Deficiency 37
804 P SPR119 Spermatogenic Failure, X-Linked, 1 36
805 P OVR075 Ovarian Dysgenesis 1 36
806 c BRD035 Bardet-Biedl Syndrome 15 36
807 END029 Endocervical Carcinoma 35
808 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
809 OVR054 Ovarian Mucinous Neoplasm 34
810 c CLR059 Ciliary Dyskinesia, Primary, 13 34
811 OVR011 Ovarian Mucinous Adenocarcinoma 34
812 P LYD011 Leydig Cell Hypoplasia 34
813 CRV022 Cervix Small Cell Carcinoma 34
814 3MC002 3mc Syndrome 1 34
815 LMB008 Limb-Mammary Syndrome 34
816 END032 Endometrial Clear Cell Adenocarcinoma 34
817 c PRR020 Perrault Syndrome 1 33
818 ASH001 Asherman's Syndrome 33
819 c 46X081 46,xx Sex Reversal 33
820 c PRS114 Prostate Cancer, Hereditary, 2 33
821 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 33
822 c CNG562 Congenital Hypogonadotropic Hypogonadism 33
823 c SPR061 Spermatogenic Failure 5 33
824 c SPR111 Spermatogenic Failure 16 33
825 c PRS136 Prostate Cancer, Hereditary, 6 33
826 MSC020 Mosaic Trisomy 8 32
827 c CLR056 Ciliary Dyskinesia, Primary, 10 32
828 c SPR042 Spermatogenic Failure 8 32
829 P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 32
830 c SPR093 Spermatogenic Failure, Y-Linked, 2 32
831 c SPR089 Spermatogenic Failure 4 32
832 CRV026 Cervical Clear Cell Adenocarcinoma 32
833 WLF006 Wolffian Duct Adenocarcinoma 31
834 c RNG029 Ring Chromosome 14 Syndrome 31
835 CRV014 Cervical Adenoma Malignum 31
836 c TRC099 Trichothiodystrophy 2, Photosensitive 31
837 LTM002 Luteoma 31
838 PST103 Postpartum Psychosis 31
839 OVR121 Ovarian Sex-Cord Stromal Tumor 31
840 c RNG017 Ring Chromosome 21 31
841 c RNG008 Ring Chromosome 13 30
842 LGN005 Ligneous Conjunctivitis 30
843 c RNG004 Ring Chromosome 1 30
844 c RNG020 Ring Chromosome 4 30
845 EPD014 Epididymis Adenocarcinoma 29
846 c RNG018 Ring Chromosome 22 29
847 c PRR021 Perrault Syndrome 4 29
848 OVR103 Ovarian Endometrial Cancer 29
849 FLL023 Fallopian Tube Adenocarcinoma 29
850 BRT015 Bartholin's Gland Adenocarcinoma 29
851 NPP006 Nipples, Supernumerary 28
852 LPM001 Lipoma of Spermatic Cord 28
853 P TST016 Testicular Granulosa Cell Tumor 28
854 c RNG024 Ring Chromosome 8 28
855 c CLR135 Ciliary Dyskinesia, Primary, 7 28
856 c RNG022 Ring Chromosome 6 28
857 RPR001 Reproductive Organ Benign Neoplasm 28
858 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 28
859 CRV033 Cervical Adenosquamous Carcinoma 28
860 OVR057 Ovarian Serous Adenofibroma 27
861 OVR009 Ovarian Gonadoblastoma 27
862 OVR060 Ovary Epithelial Cancer 27
863 c RNG007 Ring Chromosome 12 27
864 OVR002 Ovarian Serous Cystadenofibroma 26
865 DPL007 Duplication of Urethra 26
866 YNG002 Young Syndrome 26
867 PGD001 Pagod Syndrome 26
868 c RNG016 Ring Chromosome 20 26
869 P RCR026 Recurrent Hydatidiform Mole 26
870 VLV050 Vulvar Adenocarcinoma 26
871 APR009 Aprosencephaly Syndrome 26
872 c RNG005 Ring Chromosome 10 26
873 c 46X047 46,xy Sex Reversal 7 26
874 NNG001 Non-Gestational Choriocarcinoma 26
875 c CLR123 Ciliary Dyskinesia, Primary, 37 26
876 c RNG010 Ring Chromosome 15 25
877 OVR062 Ovary Serous Adenocarcinoma 25
878 PRS008 Prostate Small Cell Carcinoma 25
879 c INF031 Inflammatory Leiomyosarcoma 25
880 c SKN062 Skin Creases, Congenital Symmetric Circumferential, 2 25
881 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 25
882 NNS033 Non-Syndromic Male Infertility Due to Sperm Motility Disorder 25
883 PRS015 Prostate Signet Ring Cell Adenocarcinoma 25
884 VLV030 Vulvar Proximal-Type Epithelioid Sarcoma 24
885 UTR029 Uterus Perivascular Epithelioid Cell Tumor 24
886 c PRR024 Perrault Syndrome 3 24
887 GYN003 Gynandroblastoma 24
888 TST003 Testicular Leukemia 24
889 RTT004 Rete Testis Adenocarcinoma 24
890 c PRM091 Premature Ovarian Failure 2b 24
891 c SPR110 Spermatogenic Failure 17 23
892 c GLC115 Galactosemia Iv 23
893 c CLR140 Ciliary Dyskinesia, Primary, 40 23
894 48X002 48,xxxy Syndrome 23
895 c RNG013 Ring Chromosome 18 23
896 TRC121 Trichomonas Vaginalis Trichomoniasis 23
897 c CLR054 Ciliary Dyskinesia, Primary, 12 23
898 PYS001 Pyosalpinx 23
899 c PRC047 Precocious Puberty, Central, 1 23
900 SBS001 Subserous Uterine Fibroid 23
901 c 46X056 46,xy Sex Reversal 5 23
902 c PRS070 Prostate Cancer, Hereditary, 12 22
903 VLV016 Vulvar Apocrine Adenocarcinoma 22
904 c PRR026 Perrault Syndrome 5 22
905 c CLR142 Ciliary Dyskinesia, Primary, 42 22
906 PRV001 Parovarian Cyst 22
907 c PRC046 Precocious Puberty, Central, 2 22
908 c CLR139 Ciliary Dyskinesia, Primary, 39 22
909 c CLR143 Ciliary Dyskinesia, Primary, 43 22
910 c PRS031 Prostate Carcinoma in Situ 22
911 VST005 Vestibular Gland Benign Neoplasm 22
912 c SPR115 Spermatogenic Failure 19 21
913 MCN010 Mucinous Cystadenofibroma 21
914 c 46X080 46,xx Sex Reversal 5 21
915 c OVR119 Ovarian Dysgenesis 7 21
916 TST007 Testicular Infarct 21
917 c SPR150 Spermatogenic Failure 40 21
918 c SPR153 Spermatogenic Failure 43 21
919 c CLR088 Ciliary Dyskinesia, Primary, 21 21
920 c SPR114 Spermatogenic Failure 20 21
921 OVR056 Ovarian Primitive Germ Cell Tumor 20
922 c SPR140 Spermatogenic Failure 35 20
923 c CLR124 Ciliary Dyskinesia, Primary, 34 20
924 c SPR149 Spermatogenic Failure 39 20
925 c SPR136 Spermatogenic Failure 33 20
926 c SPR137 Spermatogenic Failure 34 20
927 c RNG021 Ring Chromosome 5 20
928 c SPR141 Spermatogenic Failure 36 20
929 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 19
930 c PRM191 Premature Ovarian Failure 9 19
931 c RNG012 Ring Chromosome 17 19
932 END001 Endometrial Mucinous Adenocarcinoma 19
933 CRV011 Cervical Serous Adenocarcinoma 19
934 c PRM292 Premature Ovarian Failure 14 19
935 NNC019 Non-Acquired Panhypopituitarism 19
936 c RNG025 Ring Chromosome 9 19
937 c ADL043 Adult Type Testicular Granulosa Cell Tumor 19
938 c RNG019 Ring Chromosome 3 19
939 TST012 Testicular Fibroma 19
940 VLV031 Vulva Adenocarcinoma 19
941 MNT030 Mental Retardation Syndrome, Belgian Type 18
942 PNS007 Penis Sarcoma 18
943 c CLR141 Ciliary Dyskinesia, Primary, 41 18
944 c SPR096 Spermatogenic Failure 13 18
945 VLV023 Vulvar Eccrine Porocarcinoma 18
946 c RNG006 Ring Chromosome 11 18
947 FLL017 Fallopian Tube Squamous Cell Carcinoma 18
948 TST013 Testicular Thecoma 17
949 c HYD068 Hydatidiform Mole, Recurrent, 4 17
950 c PRS135 Prostate Cancer, Hereditary, 4 17
951 END027 Endometrial Mixed Adenocarcinoma 17
952 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
953 c SPR132 Spermatogenic Failure 29 17
954 c OVR118 Ovarian Dysgenesis 6 17
955 c SPR116 Spermatogenic Failure 15 17
956 c SPR129 Spermatogenic Failure 26 17
957 c SPR151 Spermatogenic Failure 41 17
958 c SPR112 Spermatogenic Failure 21 17
959 c SPR124 Spermatogenic Failure 22 17
960 c PRS081 Prostate Cancer, Hereditary, 9 17
961 c RNG014 Ring Chromosome 19 17
962 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 16
963 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 16
964 c TST017 Testicular Malignant Germ Cell Cancer 16
965 CRV037 Cervical Mucinous Adenocarcinoma 16
966 HYP689 Hypomelia with Mullerian Duct Anomalies 16
967 c MLN078 Male Infertility Due to Acephalic Spermatozoa 16
968 c RNG011 Ring Chromosome 16 16
969 DDL001 Didelphys Uterus 16
970 c LPR016 Leprosy 4 16
971 c LPR020 Leprosy 6 16
972 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 15
973 CRV001 Cervical Endometrioid Adenocarcinoma 15
974 c KLL005 Kallmann Syndrome 3 15
975 c RNG031 Ring Chromosome Y Syndrome 15
976 PRG149 Progestogen Hypersensitivity 15
977 IST001 Isthmus Cancer 15
978 c PRS074 Prostate Cancer, Hereditary, 10 15
979 c RRM003 Rare Malignant Breast Tumor 15
980 OVR037 Ovarian Solid Teratoma 15
981 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
982 VGN021 Vaginal Glandular Tumor 14
983 PSD091 Pseudounicornuate Uterus 14
984 SRC029 Sarcoma of Cervix Uteri 14
985 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
986 c MYC054 Mycobacterium Tuberculosis 2 14
987 c MLN081 Male Infertility Due to Sperm Motility Disorder 13
988 VGN004 Vaginal Yolk Sac Tumor 13
989 PRM194 Primary Peritoneal Serous/papillary Carcinoma 13
990 P RRB004 Rare Breast Tumor 13
991 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
992 CLR006 Clear Cell Cystadenofibroma 13
993 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 13
994 CHR197 Chromosome 15, Trisomy Mosaicism 13
995 c SPR163 Spermatogenic Failure 51 13
996 c KLL008 Kallmann Syndrome 6 12
997 SQM012 Squamous Cell Carcinoma of the Corpus Uteri 12
998 BRS039 Breast Fibroadenosis 12
999 PNS005 Penis Mixed Squamous Cell Carcinoma 12
1000 TRN045 True Unicornuate Uterus 12
1001 c SPR155 Spermatogenic Failure, X-Linked, 3 12
1002 FLL025 Fallopian Tube Benign Neoplasm 12
1003 ADN062 Adenoid Basal Carcinoma of the Cervix Uteri 11
1004 MST003 Masters-Allen Syndrome 11
1005 c SPR164 Spermatogenic Failure 52 11
1006 WLF005 Wolffian Adnexal Neoplasm 11
1007 c HYP448 Hypertension, Essential 2 11
1008 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
1009 c HYP450 Hypertension, Essential 4 10
1010 PRT111 Partial Septate Uterus 10
1011 PRR005 Paraurethral Gland Cancer 10
1012 OVR055 Ovarian Papillary Neoplasm 10
1013 c HYP451 Hypertension, Essential 5 10
1014 LBM005 Labia Minora Cancer 10
1015 FLL001 Fallopian Tube Mucinous Adenocarcinoma 9
1016 LBM004 Labium Majus Cancer 9
1017 FLL024 Fallopian Tube Adenofibroma 9
1018 OVR008 Ovarian Mucinous Cystadenofibroma 9
1019 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
1020 VGN002 Vagina Leiomyoma 9
1021 PNS004 Penis Paget's Disease 9
1022 UTR016 Uterus Interstitial Leiomyoma 9
1023 TST011 Testis Rhabdomyosarcoma 8
1024 OVR038 Ovarian Fetiform Teratoma 8
1025 GNC009 Gonococcal Seminal Vesiculitis 8
1026 UTR041 Uterine Ligament Cancer 8
1027 P OVR053 Ovarian Mucinous Adenofibroma 8
1028 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 8
1029 END008 Endometriosis of Intestine 7
1030 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 7
1031 RTV002 Rete Ovarii Adenocarcinoma 7
1032 PDT011 Pediatric Cns Choriocarcinoma 7
1033 FLL004 Fallopian Tube Serous Papilloma 7
1034 FLL007 Fallopian Tube Leiomyosarcoma 7
1035 FLL014 Fallopian Tube Transitional Cell Carcinoma 7
1036 FLL030 Fallopian Tube Germ Cell Cancer 7
1037 P ADL024 Adult Central Nervous System Choriocarcinoma 7
1038 BRT003 Bartholin's Gland Small Cell Carcinoma 7
1039 CWP002 Cowper Gland Carcinoma 7
1040 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
1041 RRB001 Rare Benign Ovarian Tumor 7
1042 OVR032 Ovarian Surface Papilloma 7
1043 P SYN117 Syndrome with Disorder of Sex Development of Gynecological Interest 7
1044 c RRM015 Rare Male Infertility 7
1045 VLL004 Villoglandular Variant Cervical Mucinous Adenocarcinoma 6
1046 P RRF012 Rare Female Infertility 6
1047 BRT010 Bartholin's Gland Transitional Cell Carcinoma 6
1048 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
1049 VLV007 Vulvar Inverted Follicular Keratosis 6
1050 PNS006 Penis Papillary Carcinoma 6
1051 MLG162 Malignant Mixed Epithelial and Mesenchymal Tumor of Cervix Uteri 6
1052 VGN032 Vaginal Squamous Papilloma 6
1053 CRV003 Cervical Endometrial Stromal Sarcoma 6
1054 UTR004 Uterus Intravascular Leiomyomatosis 6
1055 c MLN082 Male Infertility Due to Sperm Disorder 6
1056 VLV037 Vulvar Glandular Tumor 5
1057 FLL002 Fallopian Tube Mucinous Tumor 5
1058 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 5
1059 MLG026 Male Genital Organ Vascular Disease 5
1060 c BNG035 Benign Vaginal Carcinosarcoma 5
1061 FLL009 Fallopian Tube Adenomatoid Tumor 5
1062 UTR060 Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease 5
1063 SGN004 Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma 5
1064 VLV029 Vulvar Eccrine Adenocarcinoma 5
1065 OXY001 Oxyphilic Endometrial Endometrioid Adenocarcinoma 5
1066 OVR007 Ovarian Endometrioid Cystadenoma 5
1067 MCN002 Mucin-Rich Endometrial Endometrioid Adenocarcinoma 5
1068 SRC012 Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma 5
1069 MLG114 Malignant Germ Cell Tumor of the Corpus Uteri 5
1070 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
1071 MLG146 Malignant Germ Cell Tumor of the Vagina 5
1072 c PRM362 Primary Ovarian Insufficiency 13 5
1073 c PRM366 Primary Ovarian Insufficiency 17 5
1074 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
1075 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
1076 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
1077 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
1078 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1079 LTT003 Littre Gland Carcinoma 5
1080 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
1081 GLS017 Glassy Cell Carcinoma of the Cervix Uteri 5
1082 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
1083 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
1084 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
1085 CRC031 Carcinofibroma of the Corpus Uteri 4
1086 c MLN062 Male Infertility with Spermatogenesis Disorder Due to Single Gene Mutation 4
1087 RRC011 Rare Cancer of Corpus Uteri 4
1088 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
1089 P MLN061 Male Infertility with Spermatogenesis Disorder 4
1090 c PRM351 Primary Ovarian Insufficiency 2b 4
1091 c PRM352 Primary Ovarian Insufficiency 3 4
1092 c PRM357 Primary Ovarian Insufficiency 8 4
1093 c PRM360 Primary Ovarian Insufficiency 11 4
1094 c PRM363 Primary Ovarian Insufficiency 14 4
1095 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
1096 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
1097 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
1098 RRB005 Rare Breast Malformation 4
1099 PPL042 Papillary Carcinoma of the Corpus Uteri 4
1100 MCN025 Mucinous Cystadenoma of Childhood 4
1101 SRM003 Seromucinous Cystadenoma of Childhood 4
1102 SRS014 Serous Cystadenoma of Childhood 4
1103 BNG082 Benign Tumor of Fallopian Tubes 4
1104 c 46X061 46,xy Disorder of Sex Development of Gynecological Interest 3
1105 RRD006 Rare Idiopathic Male Infertility 3
1106 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
1107 RRV003 Rare Vulvovaginal Tumor 3
1108 RRN004 Rare Non-Malformative Uterine Adnexal Disease 3
1109 RRT003 Rare Uterine Adnexal Tumor 3
1110 GND016 Gonadal Dysgenesis of Gynecological Interest 3
1111 RNL051 Renal Cysts and Diabetes Syndrome 57
1112 c CLR041 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 35
1113 P BRS047 Breast Cancer 98
1114 P FML018 Familial Mediterranean Fever 73
1115 ACR007 Acromegaly 70
1116 P CWD010 Cowden Syndrome 70
1117 P CMP005 Campomelic Dysplasia 65
1118 END041 Endometrial Adenocarcinoma 64
1119 OVR029 Ovarian Hyperstimulation Syndrome 63
1120 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63
1121 c CLR131 Ciliary Dyskinesia, Primary, 1 61
1122 P ACT010 Acth-Secreting Pituitary Adenoma 61
1123 P PRD006 Prader-Willi Syndrome 61
1124 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
1125 CHC001 Chickenpox 57
1126 OVR012 Ovarian Serous Cystadenocarcinoma 55
1127 PRP009 Peripartum Cardiomyopathy 55
1128 PLV003 Pelvic Inflammatory Disease 55
1129 MMM001 Mammary Paget's Disease 53
1130 c BRS111 Breast-Ovarian Cancer, Familial 2 53
1131 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
1132 P OVR049 Ovarian Disease 52
1133 P MYT002 Myotonic Dystrophy 51
1134 P HYP040 Hypospadias 51
1135 LPT006 Leptin Receptor Deficiency 50
1136 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50
1137 P CRV031 Cervical Adenocarcinoma 48
1138 c LYM145 Lymphatic Malformation 5 48
1139 ECT026 Ectopic Pregnancy 48
1140 SXC001 Sex Cord-Gonadal Stromal Tumor 47
1141 P SPR041 Spermatogenic Failure 6 47
1142 c LYM144 Lymphatic Malformation 1 47
1143 c MLG069 Malignant Hypertension 46
1144 PLC003 Placental Site Trophoblastic Tumor 46
1145 c BRS007 Breast Malignant Phyllodes Tumor 45
1146 LRN001 Laurence-Moon Syndrome 45
1147 PNS010 Penis Squamous Cell Carcinoma 45
1148 TBR006 Tuberculoid Leprosy 43
1149 GND001 Gonadoblastoma 43
1150 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 42
1151 c 46X055 46,xy Sex Reversal 3 40
1152 c SPR043 Spermatogenic Failure 9 40
1153 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 40
1154 OVR034 Ovarian Clear Cell Adenocarcinoma 39
1155 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 39
1156 OVR112 Ovarian Germ Cell Cancer 38
1157 SRT003 Sertoli-Leydig Cell Tumor 38
1158 c LYM150 Lymphatic Malformation 7 38
1159 DYS017 Dysgerminoma of Ovary 37
1160 c NNN021 Noonan Syndrome 8 37
1161 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 36
1162 OVR051 Ovarian Endodermal Sinus Tumor 36
1163 P BNG013 Benign Breast Phyllodes Tumor 35
1164 3MC001 3mc Syndrome 2 35
1165 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 35
1166 CRT020 Cortisone Reductase Deficiency 34
1167 P FML187 Familial Hypertension 34
1168 c SPR118 Spermatogenic Failure 1 34
1169 TST010 Testicular Spermatocytic Seminoma 33
1170 UTR042 Uterus Leiomyosarcoma 33
1171 FLL015 Fallopian Tube Serous Adenocarcinoma 33
1172 c SPR113 Spermatogenic Failure 18 32
1173 FLL003 Fallopian Tube Endometrioid Adenocarcinoma 32
1174 OVR109 Ovarian Germ Cell Teratoma 32
1175 CLR137 Clear Cell Adenocarcinoma of the Ovary 31
1176 PNL025 Penile Benign Neoplasm 31
1177 c CLR106 Ciliary Dyskinesia, Primary, 26 30
1178 c CLR134 Ciliary Dyskinesia, Primary, 3 30
1179 c MLG080 Malignant Secondary Hypertension 30
1180 EPT003 Epithelioid Trophoblastic Tumor 30
1181 HMT001 Hematocele of Tunica Vaginalis Testis 29
1182 c CLR102 Ciliary Dyskinesia, Primary, 17 29
1183 c CWD008 Cowden Syndrome 6 29
1184 FLL022 Fallopian Tube Clear Cell Adenocarcinoma 29
1185 TST020 Testis Seminoma 28
1186 DFN039 Deafness-Infertility Syndrome 28
1187 DRM005 Dermoid Cyst of Ovary 28
1188 c CLR104 Ciliary Dyskinesia, Primary, 15 28
1189 VGN014 Vagina Sarcoma 28
1190 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
1191 c CLR091 Ciliary Dyskinesia, Primary, 14 27
1192 BRT045 Bartholin's Gland Benign Neoplasm 27
1193 c 46X048 46,xx Sex Reversal 2 27
1194 48X001 48, Xxxx 27
1195 DTH005 Diethylstilbestrol Syndrome 26
1196 c SPR084 Spermatogenic Failure 2 26
1197 BRT016 Bartholin's Gland Carcinoma 26
1198 c CLR125 Ciliary Dyskinesia, Primary, 33 26
1199 c CWD004 Cowden Syndrome 5 26
1200 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 25
1201 c PRR022 Perrault Syndrome 2 25
1202 FLL028 Fallopian Tube Carcinosarcoma 25
1203 c FML344 Familial Mediterranean Fever, Autosomal Dominant 25
1204 TST001 Testicular Leydig Cell Tumor 25
1205 PRS002 Prostate Lymphoma 25
1206 ATN012 Autoinflammatory Syndrome, Familial, Behcet-Like 25
1207 MTR011 Mature Teratoma of the Ovary 25
1208 MLG154 Malignant Sertoli-Leydig Cell Tumor of the Ovary 25
1209 c CWD009 Cowden Syndrome 7 24
1210 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 24
1211 MLG164 Malignant Epithelial Tumor of Ovary 24
1212 c BRS098 Breast-Ovarian Cancer, Familial 4 24
1213 PRS017 Prostate Neuroendocrine Neoplasm 24
1214 c CLR053 Ciliary Dyskinesia, Primary, 11 24
1215 UTR009 Uterus Carcinoma in Situ 24
1216 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 24
1217 c CLR098 Ciliary Dyskinesia, Primary, 27 24
1218 BCR002 Bicornuate Uterus 24
1219 MMM002 Mammary-Digital-Nail Syndrome 23
1220 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 23
1221 c SPR127 Spermatogenic Failure 24 23
1222 c BRS088 Breast-Ovarian Cancer, Familial 3 23
1223 DFN313 Deafness-Hypogonadism Syndrome 23
1224 c MLG039 Malignant Essential Hypertension 23
1225 c CLR099 Ciliary Dyskinesia, Primary, 16 23
1226 c PLY141 Polycystic Kidney Disease 5 22
1227 c RNG015 Ring Chromosome 2 22
1228 c CLR107 Ciliary Dyskinesia, Primary, 24 22
1229 MCN003 Mucinous Ovarian Cystadenoma 21
1230 CHR483 Chromosome 3q13.31 Deletion Syndrome 21
1231 c SPR143 Spermatogenic Failure 38 21
1232 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1233 c SPR128 Spermatogenic Failure 25 21
1234 c CLR126 Ciliary Dyskinesia, Primary, 35 21
1235 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 20
1236 c SPR158 Spermatogenic Failure 46 20
1237 c CWD005 Cowden Syndrome 4 20
1238 TTR018 Tetragametic Chimerism 20
1239 P SYN140 Syndrome with 46,xy Disorder of Sex Development 20
1240 c 46X046 46,xy Sex Reversal 4 20
1241 c SPR152 Spermatogenic Failure 42 20
1242 c SPR091 Spermatogenic Failure, X-Linked, 2 20
1243 TST005 Testicular Gonadoblastoma 20
1244 FML019 Familiar Ovarian Carcinoma 20
1245 c SPR142 Spermatogenic Failure 37 19
1246 c LPR023 Leprosy 1 19
1247 c PRM253 Premature Ovarian Failure 13 19
1248 c CLR144 Ciliary Dyskinesia, Primary, 44 19
1249 SPR014 Spermatic Cord Cancer 19
1250 P PRM176 Premature Ovarian Failure 2a 19
1251 c SPR135 Spermatogenic Failure 32 18
1252 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
1253 c SPR125 Spermatogenic Failure 23 18
1254 TST040 Testicular Trophoblastic Tumor 17
1255 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
1256 c ERL005 Early Invasive Cervical Adenocarcinoma 17
1257 c PRM344 Premature Ovarian Failure 16 17
1258 MCN019 Mucinous Adenocarcinoma of Ovary 16
1259 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
1260 SPT015 Septate Vagina 15
1261 c PRM348 Premature Ovarian Failure 17 15
1262 MLG155 Maligant Granulosa Cell Tumor of the Ovary 15
1263 MXD024 Mixed Epithelial Tumor of Ovary 15
1264 46X015 46,xy Ovotesticular Disorder of Sex Development 15
1265 c SPR161 Spermatogenic Failure 49 15
1266 MLR005 Male Reproductive Organ Benign Neoplasm 15
1267 CMP079 Complete Septate Uterus 15
1268 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 14
1269 BRD046 Borderline Epithelial Tumor of Ovary 14
1270 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1271 ISL068 Isolated Partial Vaginal Agenesis 14
1272 c PRS079 Prostate Cancer, Hereditary, 5 14
1273 TST041 Testicular Germ Cell Tumor Non-Seminomatous 14
1274 SCR014 Scrotum Basal Cell Carcinoma 13
1275 c CMP100 Campomelic Dysplasia and Related Disorders 12
1276 c MYR005 Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 12
1277 TST019 Testis Sarcoma 12
1278 PNS008 Penis Basal Cell Carcinoma 12
1279 c BNG034 Benign Secondary Hypertension 12
1280 FLL016 Fallopian Tube Papillary Adenocarcinoma 11
1281 c PRM349 Premature Ovarian Failure 18 11
1282 PRM193 Primary Non-Gestational Choriocarcinoma of Ovary 10
1283 MLG166 Malignant Sex Cord Stromal Tumor of Ovary 10
1284 OVR020 Ovarian Wilms' Cancer 10
1285 c HYP453 Hypertension, Essential 7 9
1286 MLG156 Malignant Dysgerminomatous Germ Cell Tumor of the Ovary 9
1287 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 9
1288 SRC005 Sarcomatoid Penile Squamous Cell Carcinoma 9
1289 SLV014 Salivary Gland Type Cancer of the Breast 8
1290 XLN248 X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation 8
1291 MLG017 Malignant Tumor of Undescended Testis 8
1292 UTR040 Uterine Ligament Adenocarcinoma 8
1293 PLM023 Pulmonary Artery Choriocarcinoma 8
1294 UNC003 Unicervical Bicornuate Uterus 7
1295 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
1296 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
1297 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1298 GLN007 Glans Penis Cancer 7
1299 CHL048 Childhood Teratocarcinoma of the Testis 7
1300 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1301 TST006 Testicular Monophasic Choriocarcinoma 6
1302 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
1303 PNS011 Penis Verrucous Carcinoma 6
1304 CHL063 Childhood Teratoma of the Ovary 6
1305 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1306 CHL011 Childhood Immature Teratoma of Ovary 6
1307 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 6
1308 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
1309 MLG127 Malignant Non-Dysgerminomatous Germ Cell Tumor of Ovary 6
1310 THC005 Theca Steroid-Producing Cell Malignant Tumor of Ovary, Not Further Specified 6
1311 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
1312 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
1313 UTR012 Uterine Ligament Serous Adenocarcinoma 5
1314 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
1315 PLY009 Polyembryoma of the Ovary 5
1316 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
1317 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 5
1318 MLG165 Malignant Non-Epithelial Tumor of Ovary 5
1319 c SMN004 Seminal Vesicle Chronic Gonorrhea 5
1320 BCR004 Bicervical Bicornuate Uterus with Patent Cervix and Vagina 5
1321 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
1322 TST042 Testicular Pure Germ Cell Tumor 5
1323 PNS001 Penis Non-Invasive Verrucous Carcinoma 5
1324 TBL005 Tubular Variant Testicular Seminoma 5
1325 PNS003 Penis Basaloid Carcinoma 5
1326 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
1327 CRB003 Cribriform Variant Testicular Seminoma 5
1328 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
1329 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
1330 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
1331 PSD013 Pseudoglandular Variant Testicular Seminoma 5
1332 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
1333 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1334 c OVR071 Ovarian Insufficiency, Familial 4
1335 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
1336 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
1337 FML007 Familiar Fallopian Tube Carcinoma 4
1338 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
1339 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
1340 RRV001 Rare Variants of Adenocarcinoma of the Corpus Uteri 4
1341 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
1342 RRD028 Rare Disorder with Obstructive Azoospermia 4
1343 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 3
1344 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1345 c FRG005 Fragile X Syndrome Type 2 3
1346 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
1347 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1348 RRN007 Rare Non-Malformative Gynecologic or Obstetric Disease 3
1349 RRV004 Rare Vaginal Malformation 3
1350 GNT003 Genital Herpes 54
1351 P FRG001 Fragile X Syndrome 70
1352 MCC012 Mccune-Albright Syndrome 70
1353 P PLY014 Polycystic Kidney Disease 69
1354 P MYC084 Mycobacterium Tuberculosis 1 68
1355 FLL027 Fallopian Tube Carcinoma 67
1356 VLV032 Vulva Cancer 60
1357 VGN017 Vaginal Cancer 59
1358 UTR024 Uterine Carcinosarcoma 59
1359 PNL012 Penile Cancer 57
1360 c MYT020 Myotonic Dystrophy 2 57
1361 P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 57
1362 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 56
1363 ANG005 Anogenital Venereal Wart 56
1364 LMY014 Leiomyoma, Uterine 56
1365 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 55
1366 CMP034 Complete Androgen Insensitivity Syndrome 55
1367 MYM001 Myoma 54
1368 SCH071 Schaaf-Yang Syndrome 53
1369 GST010 Gestational Trophoblastic Neoplasm 52
1370 TST014 Testicular Cancer 52
1371 PLS030 Plasminogen Deficiency, Type I 51
1372 c BRD012 Bardet-Biedl Syndrome 11 51
1373 c BRS049 Breast Carcinoma in Situ 50
1374 GRD009 Gordon Holmes Syndrome 50
1375 VLV034 Vulva Squamous Cell Carcinoma 49
1376 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1377 ANT003 Antley-Bixler Syndrome 49
1378 c PRM093 Premature Ovarian Failure 7 48
1379 HND004 Hand-Foot-Genital Syndrome 47
1380 P PRC019 Precocious Puberty 47
1381 ADR054 Adrenocortical Carcinoma, Hereditary 47
1382 P PRM001 Primary Cutaneous Amyloidosis 47
1383 CRR002 Currarino Syndrome 47
1384 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 46
1385 MLL011 Mullerian Aplasia and Hyperandrogenism 45
1386 ECT093 Ectopic Cushing Syndrome 45
1387 P OVR106 Ovarian Clear Cell Carcinoma 44
1388 c BRD033 Bardet-Biedl Syndrome 13 43
1389 EMP001 Empty Sella Syndrome 42
1390 c SPR009 Sporadic Breast Cancer 42
1391 46X012 46,xy Partial Gonadal Dysgenesis 41
1392 ANR018 Anorchia 36
1393 OVR015 Ovarian Mixed Germ Cell Neoplasm 36
1394 GST052 Gestational Choriocarcinoma 35
1395 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 35
1396 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 34
1397 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 33
1398 SPR018 Spermatocytoma 33
1399 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 33
1400 BCK005 Becker Nevus Syndrome 33
1401 CHR076 Choriocarcinoma of the Testis 33
1402 c CLR095 Ciliary Dyskinesia, Primary, 19 33
1403 c PRS130 Prostate Cancer, Hereditary, 8 32
1404 OVR026 Ovary Transitional Cell Carcinoma 32
1405 OVR013 Ovarian Mucinous Cystadenocarcinoma 32
1406 PDN001 Pudendal Neuralgia 31
1407 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 30
1408 OVR123 Ovarian Seromucinous Carcinoma 30
1409 c BRD051 Bardet-Biedl Syndrome 20 30
1410 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
1411 c CLR116 Ciliary Dyskinesia, Primary, 29 29
1412 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
1413 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
1414 c BRD050 Bardet-Biedl Syndrome 21 28
1415 BRD005 Borderline Leprosy 28
1416 c LYM149 Lymphatic Malformation 6 28
1417 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
1418 IND004 Indeterminate Leprosy 27
1419 FTL029 Fetal Thalidomide Syndrome 27
1420 WLF003 Wolffian Duct Adenoma 26
1421 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1422 PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26
1423 OVR061 Ovary Sarcoma 25
1424 c CLR097 Ciliary Dyskinesia, Primary, 23 25
1425 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1426 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24
1427 HYP344 Hyperthyroidism, Familial Gestational 24
1428 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
1429 P TST048 Testicular Sex Cord-Stromal Neoplasm 24
1430 OVR021 Ovarian Lymphoma 24
1431 c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 24
1432 c CLR068 Ciliary Dyskinesia, Primary, 5 23
1433 c CLR117 Ciliary Dyskinesia, Primary, 32 23
1434 c CLR090 Ciliary Dyskinesia, Primary, 22 23
1435 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 23
1436 PLY115 Polyendocrine-Polyneuropathy Syndrome 23
1437 c ERY054 Erythrokeratodermia Variabilis Et Progressiva 2 22
1438 PNS002 Penis Carcinoma in Situ 21
1439 c PRS080 Prostate Cancer, Hereditary, 7 21
1440 c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 21
1441 c CLR145 Ciliary Dyskinesia, Primary, 45 21
1442 PDT023 Pediatric Testicular Germ Cell Tumor 20
1443 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 20
1444 c PRS134 Prostate Cancer, Hereditary, 3 20
1445 c ERY055 Erythrokeratodermia Variabilis Et Progressiva 3 20
1446 HYD021 Hydrocephalus Obesity Hypogonadism 19
1447 c 46X050 46,xx Sex Reversal 3 18
1448 c ERY068 Erythrokeratodermia Variabilis Et Progressiva 6 18
1449 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
1450 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 17
1451 OVR033 Ovary Papillary Carcinoma 16
1452 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 16
1453 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
1454 6Q1002 6q16 Microdeletion Syndrome 15
1455 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
1456 RRG074 Rare Gynecological Tumor 14
1457 c ERY072 Erythrokeratodermia Variabilis Et Progressiva 7 14
1458 XLN112 X-Linked Intellectual Disability, Cilliers Type 13
1459 c PRS076 Prostate Cancer, Hereditary, 15 13
1460 c PRS075 Prostate Cancer, Hereditary, 14 13
1461 FLL011 Fallopian Tube Gestational Choriocarcinoma 12
1462 c PRM047 Primary Malignant Melanoma of the Cervix 12
1463 c HYP452 Hypertension, Essential 6 11
1464 RRT013 Rare Uterine Cancer 10
1465 P RRC012 Rare Cancer of Cervix Uteri 9
1466 RND001 Round Ligament Malignant Neoplasm 9
1467 BRD006 Broad Ligament Malignant Neoplasm 8
1468 CHL038 Childhood Choriocarcinoma of the Ovary 7
1469 CHL042 Childhood Choriocarcinoma of the Testis 7
1470 c RRD004 Rare Adenocarcinoma of the Breast 7
1471 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1472 TST009 Testis Refractory Cancer 6
1473 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1474 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
1475 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 5
1476 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
1477 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1478 c CNG100 Congenital Herpes Simplex 22
1479 CYS001 Cystic Fibrosis 78
1480 ADR007 Adrenoleukodystrophy 73
1481 END057 Endometrial Cancer 72
1482 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
1483 c MYT021 Myotonic Dystrophy 1 68
1484 c BRD010 Bardet-Biedl Syndrome 1 64
1485 HYP020 Hyperprolactinemia 63
1486 c BRS110 Breast-Ovarian Cancer, Familial 1 56
1487 P PRS049 Persistent Mullerian Duct Syndrome 52
1488 OVR059 Ovary Adenocarcinoma 49
1489 c PTT057 Pituitary Adenoma 4, Acth-Secreting 48
1490 c NNN010 Noonan Syndrome 3 47
1491 c NNN011 Noonan Syndrome 4 45
1492 PLN006 Poland Syndrome 44
1493 c BRD013 Bardet-Biedl Syndrome 12 44
1494 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 40
1495 c OVR058 Ovarian Small Cell Carcinoma 39
1496 TST018 Testicular Yolk Sac Tumor 39
1497 c PRS097 Prostate Cancer, Hereditary, 1 39
1498 c 46X051 46,xy Sex Reversal 1 38
1499 c NNN009 Noonan Syndrome 2 38
1500 IMM005 Immature Teratoma of Ovary 35
1501 MCH011 Meacham Syndrome 34
1502 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 34
1503 c 46X057 46,xy Sex Reversal 8 34
1504 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 33
1505 c FML353 Familial Ovarian Cancer 32
1506 P RRL003 Rare Lymphatic Malformation 31
1507 EMB006 Embryonal Testis Carcinoma 31
1508 OVR050 Ovarian Embryonal Carcinoma 31
1509 CHR075 Choriocarcinoma of Ovary 31
1510 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 28
1511 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
1512 c NNN034 Noonan Syndrome 12 27
1513 INT041 Intratubular Embryonal Carcinoma 26
1514 c PRS071 Prostate Cancer, Hereditary, 13 25
1515 HYP683 Hypogonadism-Cataract Syndrome 25
1516 c PRS117 Prostate Cancer, Hereditary, 11 24
1517 c LYM148 Lymphatic Malformation 4 22
1518 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 20
1519 OVR004 Ovary Neuroendocrine Neoplasm 16
1520 CHL043 Childhood Embryonal Testis Carcinoma 8
1521 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1522 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1523 EMB004 Embryonal Carcinoma 56
1524 P ATX030 Ataxia-Telangiectasia 80
1525 P PRM011 Primary Ciliary Dyskinesia 69
1526 P BRD002 Bardet-Biedl Syndrome 66
1527 P GLC113 Galactosemia I 66
1528 c ATS347 Autosomal Dominant Polycystic Kidney Disease 66
1529 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
1530 AND002 Androgen Insensitivity Syndrome 63
1531 c PRM196 Premature Ovarian Failure 1 59
1532 c OVR114 Ovarian Cancer 1 59
1533 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
1534 P PLY011 Polycystic Ovary Syndrome 57
1535 AND020 Androgen Insensitivity, Partial 55
1536 ARM001 Aromatase Deficiency 54
1537 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52
1538 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
1539 c GLC111 Galactosemia Ii 50
1540 SCL046 Scalp-Ear-Nipple Syndrome 49
1541 SCH074 Schuurs-Hoeijmakers Syndrome 48
1542 c BRD047 Bardet-Biedl Syndrome 16 46
1543 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 43
1544 NVL003 Nivelon-Nivelon-Mabille Syndrome 42
1545 TRP009 Triple X Syndrome 41
1546 BCH003 Boucher-Neuhauser Syndrome 41
1547 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40
1548 49X006 49, Xxxxy Syndrome 40
1549 TST004 Testicular Lymphoma 39
1550 c BRD045 Bardet-Biedl Syndrome 19 37
1551 c LYD012 Leydig Cell Hypoplasia, Type I 37
1552 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 31
1553 c NNN025 Noonan Syndrome 10 30
1554 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 29
1555 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 23
1556 c LYM147 Lymphatic Malformation 3 22
1557 c LYM146 Lymphatic Malformation 2 16
1558 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1559 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1560 c CHR461 Choriocarcinoma of the Central Nervous System 4
1561 c FRG006 Fragile X Syndrome Type 3 3
1562 P HRP006 Herpes Simplex 65
1563 LPT014 Leptin Deficiency or Dysfunction 78
1564 c CWD006 Cowden Syndrome 1 78
1565 P TWN003 Townes-Brocks Syndrome 55
1566 P EMB005 Embryonal Rhabdomyosarcoma 53
1567 ARM004 Aromatase Excess Syndrome 51
1568 c RHB023 Rhabdomyosarcoma, Embryonal, 1 45
1569 c BRD016 Bardet-Biedl Syndrome 4 44
1570 c NNN013 Noonan Syndrome 6 42
1571 c 46X079 46,xy Sex Reversal 11 41
1572 c NNN012 Noonan Syndrome 5 37
1573 c TWN011 Townes-Brocks Syndrome 1 35
1574 STY001 Satoyoshi Syndrome 30
1575 VNS015 Van Esch-O'driscoll Syndrome 27
1576 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
1577 c TWN010 Townes-Brocks Syndrome 2 22
1578 MSC089 Mosaic Monosomy X 21
1579 c PSD047 Pseudo-Turner Syndrome 52
1580 c BRD018 Bardet-Biedl Syndrome 6 49
1581 c BRD011 Bardet-Biedl Syndrome 10 49
1582 MRT007 Martsolf Syndrome 48
1583 GLC106 Glucocorticoid Resistance, Generalized 48
1584 BSM002 Bosma Arhinia Microphthalmia Syndrome 44
1585 c BRD021 Bardet-Biedl Syndrome 9 40
1586 c BRD017 Bardet-Biedl Syndrome 5 38
1587 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 64
1588 DNY001 Denys-Drash Syndrome 57
1589 c NNN024 Noonan Syndrome 9 30
1590 c BRD032 Bardet-Biedl Syndrome 14 46
1591 c BRD019 Bardet-Biedl Syndrome 7 43
1592 c BRD014 Bardet-Biedl Syndrome 2 53
1593 c GLC112 Galactosemia Iii 51
1594 c BRD015 Bardet-Biedl Syndrome 3 48



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