Reproductive Diseases Category (1428 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 XLN107 X-Linked Lissencephaly with Abnormal Genitalia 25
2 P TST021 Testicular Germ Cell Tumor 63
3 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
4 P LSS036 Lissencephaly, X-Linked, 1 45
5 c LSS037 Lissencephaly, X-Linked, 2 35
6 MCR265 Macrozoospermia 14
7 HYP610 Hypothyroidism, Central, and Testicular Enlargement 39
8 c 46X057 46,xy Sex Reversal 8 29
9 BRN052 Brenner Tumor of the Vagina 4
10 P PRS049 Persistent Mullerian Duct Syndrome 53
11 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 45
12 TST043 Testicular Seminoma 36
13 NNR008 Non-Recovering Obstetric Brachial Plexus Lesion 7
14 TST035 Testicular Anomalies with or Without Congenital Heart Disease 20
15 c SPR127 Spermatogenic Failure 24 19
16 c SPR136 Spermatogenic Failure 33 19
17 c SPR137 Spermatogenic Failure 34 19
18 c TST046 Testicular Germ Cell Tumor 1 30
19 c SPR131 Spermatogenic Failure 28 24
20 c SPR135 Spermatogenic Failure 32 17
21 c SPR133 Spermatogenic Failure 30 16
22 VGN024 Vagina, Absence of 13
23 GLY100 Glycerol Kinase 2 12
24 NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 12
25 GLY101 Glycerol Kinase 3 Pseudogene 7
26 GNT136 Genetic Disorder of Sex Development of Gynecological Interest 3
27 NNR023 Non-Rare Gynecologic and Obstetric Disease 3
28 RRG007 Rare Genetic Gynecological and Obstetrical Diseases 3
29 P PLV020 Pelvic Organ Prolapse 61
30 LST001 Listeriosis 55
31 TRC003 Trichomoniasis 46
32 TST025 Testicular Microlithiasis 30
33 YCH001 Y Chromosome Infertility 27
34 SCR025 Scarf Syndrome 23
35 MTH082 Methemoglobinemia and Ambiguous Genitalia 21
36 c SPR128 Spermatogenic Failure 25 20
37 c SPR143 Spermatogenic Failure 38 19
38 c SPR142 Spermatogenic Failure 37 19
39 c SPR134 Spermatogenic Failure 31 19
40 c SPR130 Spermatogenic Failure 27 18
41 c SPR141 Spermatogenic Failure 36 17
42 c SPR140 Spermatogenic Failure 35 17
43 c SPR132 Spermatogenic Failure 29 16
44 c SPR129 Spermatogenic Failure 26 16
45 c PLV014 Pelvic Organ Prolapse 2 12
46 MCH007 Meacham Winn Culler Syndrome 8
47 VRC001 Varicocele 51
48 HYP784 Hypogonadism, Male 39
49 c 46X051 46,xy Sex Reversal 1 43
50 c 46X055 46,xy Sex Reversal 3 35
51 c 46X049 46,xy Sex Reversal 2 33
52 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 32
53 c 46X048 46,xx Sex Reversal 2 28
54 c 46X030 46,xy Sex Reversal 9 26
55 c 46X017 46,xy Sex Reversal 6 26
56 c 46X047 46,xy Sex Reversal 7 24
57 c 46X058 46,xy Sex Reversal 10 22
58 c 46X056 46,xy Sex Reversal 5 22
59 NNS042 Nonsyndromic Disorders of Testicular Development 22
60 c 46X059 46,xx Sex Reversal 4 21
61 c 46X011 46, Xy Disorders of Sexual Development 20
62 c 46X046 46,xy Sex Reversal 4 19
63 LBN003 Lubinsky Syndrome 16
64 c 46X050 46,xx Sex Reversal 3 15
65 MYT025 Myotubular Myopathy with Abnormal Genital Development 12
66 FCT031 Faciothoracogenital Syndrome 11
67 SPR122 Sperm-Specific Antigen 1 11
68 ENL011 Enolase, Sperm Specific 9
69 TMR023 Tumor of Testis and Paratestis 9
70 PRP011 Puerperal Pulmonary Embolism 9
71 SHV002 Sohval Soffer Syndrome 8
72 P OBS777 Obsolete: Male Infertility with Impaired Virilization 7
73 SPR117 Sperm Protamine P4 7
74 P OBS768 Obsolete: Male Infertility with Normal Virilization 6
75 c OBS792 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder 6
76 c OBS790 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect 6
77 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
78 c OBS761 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect 5
79 c OBS772 Obsolete: Male Infertility with Normal Virilization Due to a Developmental or Structural Testicular Defect 4
80 c OBS776 Obsolete: Male Infertility with Impaired Virilization Due to an Hypothalamic or Pituitary Disorder 4
81 c OBS791 Obsolete: Male Infertility with Impaired Virilization Due to a Hypothalamic and Pituitary Disorder Associated with Hyperprolactinemia 4
82 RSS021 Resistance to Bleomycine in the Treatment of Testicular Cancer 3
83 c OBS769 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Neurologic Disease 3
84 c OBS771 Obsolete: Male Infertility with Normal Virilization Due to a Hypothalamic or Pituitary Defect 3
85 c OBS782 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Systemic Disease 3
86 c OBS783 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Renal Failure 3
87 c OBS784 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Autoimmunity 3
88 c OBS785 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with a Granulomatous Disease 3
89 c OBS786 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Thyrotoxicosis 3
90 c OBS788 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Hepatic Disease 3
91 c OBS789 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Chronic Illness 3
92 c OBS793 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Drug-Related 3
93 c OBS794 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with an Environmental Toxin 3
94 c OBS795 Obsolete: Male Infertility with Impaired Virilization Due to a Viral Orchitis 3
95 c OBS796 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Trauma 3
96 c OBS760 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Mycoplasma Infection 3
97 c OBS762 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Drug 3
98 c OBS763 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Radiation 3
99 c OBS764 Obsolete: Male Infertility with Normal Virilization Due to Acquired Testicular Defect Associated with Autoimmunity 3
100 c OBS765 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Environmental Toxin 3
101 c OBS767 Obsolete: Male Infertility with Normal Virilization Due to a Systemic Disease 3
102 c OBS770 Obsolete: Male Infertility with Normal Virilization Due to Androgen Administration 3
103 c OBS773 Obsolete: Male Infertility with Normal Virilization Due to a Testicular Defect 3
104 c OBS774 Obsolete: Male Infertility with Normal Virilization Due to a Developmental or Structural Testicular Defect Associated with Varicocele 3
105 c OBS775 Obsolete: Male Infertility with Normal Virilization Due to a Developmental or Structural Testicular Defect Associated with Cryptorchidism 3
106 GNT056 Genetic Gynecological Tumor 2
107 OBS844 Obsolete: Metastatic Spermatocytic Seminoma 2
108 P PRS040 Prostate Cancer 97
109 c PRM196 Premature Ovarian Failure 1 70
110 P END044 Endometriosis 63
111 CHL123 Chlamydia 60
112 BRS051 Breast Disease 59
113 PRS047 Prostatitis 57
114 ADN027 Adenomyosis 55
115 PRS045 Prostatic Hypertrophy 55
116 P OVR049 Ovarian Disease 55
117 c MYT020 Myotonic Dystrophy 2 54
118 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 54
119 AMN001 Amenorrhea 54
120 P UTR058 Uterine Anomalies 53
121 PRT082 Preterm Premature Rupture of the Membranes 53
122 PRS021 Prostatic Adenoma 52
123 c PYR010 Peyronie's Disease 51
124 ECT026 Ectopic Pregnancy 50
125 P OVR046 Ovarian Cyst 50
126 KRT010 Kartagener Syndrome 50
127 P BRS053 Breast Fibroadenoma 49
128 P END046 Endometritis 49
129 PRM020 Premenstrual Tension 48
130 c PRM093 Premature Ovarian Failure 7 48
131 P GND004 Gonadal Dysgenesis 47
132 FML039 Female Reproductive System Disease 46
133 DYS101 Dysgerminoma 45
134 END080 Endometrial Disease 45
135 c 46X001 46 Xy Gonadal Dysgenesis 45
136 P OCY003 Oocyte Maturation Defect 1 44
137 OLG001 Oligospermia 44
138 c 46X002 46 Xx Gonadal Dysgenesis 43
139 PST029 Postmenopausal Atrophic Vaginitis 43
140 VLV010 Vulvovaginitis 42
141 PRS042 Prostate Disease 42
142 P CRV039 Cervicitis 42
143 TRP009 Triple X Syndrome 42
144 P PYR039 Peyronie Disease 41
145 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 41
146 ORC001 Orchitis 41
147 c PRS097 Prostate Cancer, Hereditary, 1 40
148 RPR002 Reproductive System Disease 40
149 EST004 Estrogen Excess 40
150 49X002 49,xxxxy Syndrome 39
151 PHM001 Phimosis 39
152 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39
153 VLV036 Vulvar Disease 38
154 BLN002 Balanitis Xerotica Obliterans 38
155 WDH003 Woodhouse-Sakati Syndrome 38
156 CRV069 Cervix Disease 37
157 MLR007 Male Reproductive System Disease 36
158 EPD018 Epididymo-Orchitis 36
159 CRV025 Cervical Incompetence 36
160 HRM002 Hermaphroditism 36
161 P STR021 Struma Ovarii 36
162 47X003 47, Xxy 36
163 END011 Endometriosis of Ovary 35
164 P HYP078 Hypertrophy of Breast 35
165 VGN019 Vaginal Discharge 35
166 c ACT081 Acute Salpingitis 35
167 c CHR099 Chronic Salpingitis 35
168 ADH001 Adhesions of Uterus 34
169 P SLP003 Salpingitis 34
170 OLG022 Oligoasthenoteratozoospermia 34
171 UTR020 Uterine Inversion 34
172 PNL013 Penile Disease 34
173 BLN010 Balanitis 34
174 c PRS136 Prostate Cancer, Hereditary, 6 34
175 c PRS130 Prostate Cancer, Hereditary, 8 33
176 PYS001 Pyosalpinx 33
177 PRM008 Parametritis 33
178 c PRS114 Prostate Cancer, Hereditary, 2 33
179 TYL001 Taylor's Syndrome 33
180 DYS017 Dysgerminoma of Ovary 32
181 OVR048 Ovarian Cystadenoma 32
182 VLV008 Vulvitis 32
183 c ACT066 Acute Cervicitis 32
184 c CHR017 Chronic Gonococcal Salpingitis 31
185 PRP013 Paraphimosis 31
186 TBR002 Tuberculous Salpingitis 31
187 END007 Endosalpingiosis 30
188 PRS043 Prostate Rhabdomyosarcoma 30
189 BLN009 Balanoposthitis 29
190 CRV028 Cervical Adenosarcoma 29
191 CRV068 Cervical Polyp 29
192 OVR121 Ovarian Sex-Cord Stromal Tumor 29
193 END016 Endocervicitis 29
194 OVR017 Ovarian Cystic Teratoma 28
195 TBR003 Tuberculous Epididymitis 28
196 BNG025 Benign Mammary Dysplasia 26
197 ACT048 Acute Gonococcal Cervicitis 26
198 NDL006 Nodular Prostate 26
199 c PRS134 Prostate Cancer, Hereditary, 3 25
200 c PRM089 Premature Ovarian Failure 3 25
201 c PRM254 Premature Ovarian Failure 11 25
202 c CHR085 Chronic Cervicitis 25
203 c PRS071 Prostate Cancer, Hereditary, 13 25
204 PGD001 Pagod Syndrome 25
205 c ACT069 Acute Endometritis 25
206 PRS007 Prostate Calculus 24
207 GYN003 Gynandroblastoma 24
208 c PRS117 Prostate Cancer, Hereditary, 11 24
209 INH003 Inhibited Female Orgasm 24
210 GRN001 Granulomatous Endometritis 23
211 c PRS080 Prostate Cancer, Hereditary, 7 23
212 c PRM207 Premature Ovarian Failure 10 23
213 VLV015 Vulvar Dystrophy 23
214 PDT003 Pediatric Ovarian Dysgerminoma 23
215 c END071 Endometriosis 1 23
216 c PRM295 Premature Ovarian Failure 15 22
217 ATR008 Atrophy of Prostate 22
218 c PRM192 Premature Ovarian Failure 8 22
219 c PRS135 Prostate Cancer, Hereditary, 4 22
220 UTR042 Uterus Leiomyosarcoma 22
221 c APR009 Aprosencephaly Syndrome 22
222 c PRM091 Premature Ovarian Failure 2b 22
223 c MLT120 Multiple Fibroadenomas of the Breast 22
224 c PRS070 Prostate Cancer, Hereditary, 12 22
225 OVR002 Ovarian Serous Cystadenofibroma 22
226 c PRM094 Premature Ovarian Failure 5 22
227 PRS014 Prostatic Cyst 22
228 VLV026 Vulvar Leiomyosarcoma 21
229 c PRM090 Premature Ovarian Failure 6 21
230 PLY115 Polyendocrine-Polyneuropathy Syndrome 21
231 CRV006 Cervix Endometriosis 21
232 c MLG022 Malignant Sertoli Cell Tumor 20
233 PSD084 Pseudo-Meigs Syndrome 20
234 c PRM253 Premature Ovarian Failure 13 20
235 GYN002 Gynatresia 20
236 c HYP678 Hypertrophy of the Breast, Juvenile 20
237 TTR018 Tetragametic Chimerism 20
238 VGN031 Vaginal Atresia 20
239 EXT063 Extrapelvic Endometriosis 20
240 SLP002 Salpingitis Isthmica Nodosa 20
241 OVR057 Ovarian Serous Adenofibroma 19
242 c PRM191 Premature Ovarian Failure 9 19
243 VLV039 Vulvar Seborrheic Keratosis 19
244 c OCY002 Oocyte Maturation Defect 2 19
245 c OCY005 Oocyte Maturation Defect 4 19
246 c PRM292 Premature Ovarian Failure 14 19
247 LKP001 Leukoplakia of Penis 19
248 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 19
249 SPR064 Supernumerary Breasts 18
250 P PRM176 Premature Ovarian Failure 2a 18
251 c PRM255 Premature Ovarian Failure 12 18
252 GRN002 Granulomatous Orchitis 17
253 DST037 Distal Monosomy 9p 17
254 c PRS081 Prostate Cancer, Hereditary, 9 17
255 c OCY006 Oocyte Maturation Defect 5 17
256 c OCY007 Oocyte Maturation Defect 6 17
257 P XKP001 Xk Aprosencephaly 17
258 BRD046 Borderline Epithelial Tumor of Ovary 17
259 FTN001 Fat Necrosis of Breast 16
260 DDL001 Didelphys Uterus 16
261 c OCY004 Oocyte Maturation Defect 3 16
262 ADN061 Adenosarcoma of the Cervix Uteri 16
263 PRL015 Prolapse of Female Genital Organ 16
264 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 15
265 c PRS074 Prostate Cancer, Hereditary, 10 15
266 c UTR006 Uterine Inflammatory Disease 15
267 INF025 Infected Hydrocele 15
268 c PRS079 Prostate Cancer, Hereditary, 5 15
269 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 14
270 PRL004 Prolapse of Urethra 14
271 MLN056 Male Infertility with Teratozoospermia Due to Single Gene Mutation 14
272 CRV010 Cervix Erosion 14
273 c FML266 Female Infertility Due to Zona Pellucida Defect 14
274 c PRS076 Prostate Cancer, Hereditary, 15 13
275 VGN012 Vaginal Adenosarcoma 13
276 c PRS075 Prostate Cancer, Hereditary, 14 13
277 ULC001 Ulceration of Vulva 13
278 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
279 RHB019 Rhabdomyosarcoma of the Cervix Uteri 13
280 P OVR045 Ovarian Clear Cell Adenofibroma 12
281 P ACT023 Acute Gonococcal Salpingitis 12
282 ACT057 Acute Gonococcal Endometritis 12
283 HYM002 Hymen, Imperforate 12
284 VLV018 Vulvar Angiokeratoma 12
285 ATY026 Atypical Meigs Syndrome 12
286 PYM002 Pyometritis 12
287 MXD024 Mixed Epithelial Tumor of Ovary 12
288 DRT001 Dartoic Leiomyoma 12
289 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
290 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 12
291 P OVR052 Ovarian Endometrioid Adenofibroma 11
292 INH002 Inhibited Male Orgasm 11
293 PLY004 Polyp of Corpus Uteri 11
294 46X015 46,xy Ovotesticular Disorder of Sex Development 10
295 PRS020 Prostatocystitis 10
296 OVR039 Ovarian Mesodermal Adenosarcoma 10
297 WLF003 Wolffian Duct Adenoma 10
298 UTR010 Uterine Cervix Leukoplakia 10
299 PLV002 Pelvic Muscle Wasting 9
300 VLV012 Vulvar Granular Cell Tumor 9
301 CRV016 Cervical Wilms' Tumor 9
302 UTR028 Uterine Corpus Adenosarcoma 9
303 VLV014 Vulva Fibroepithelial Polyp 9
304 EPD088 Epididymis Disease 9
305 ATR007 Atrophic Vulva 9
306 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 9
307 LTR006 Lateral Cystocele 8
308 ACT039 Acute Gonococcal Epididymo-Orchitis 8
309 TBR005 Tuberculous Oophoritis 8
310 PRC053 Precocious Puberty in Female 8
311 PRN004 Perineocele 8
312 c OCY008 Oocyte Maturation Defect 7 8
313 FML002 Female Infertility of Uterine Origin 8
314 VGN008 Vaginal Spindle Cell Epithelioma 7
315 END009 Endometriosis of Pelvic Peritoneum 7
316 MDL004 Midline Cystocele 7
317 UTR016 Uterus Interstitial Leiomyoma 7
318 ACT024 Acute Gonococcal Prostatitis 7
319 VGN003 Vaginal Mullerian Papilloma 7
320 OVR032 Ovarian Surface Papilloma 7
321 c ACQ064 Acquired Premature Ovarian Failure 7
322 VLV007 Vulvar Inverted Follicular Keratosis 7
323 UTR018 Uterine Corpus Bizarre Leiomyoma 6
324 CHR030 Chronic Gonorrhea of Cervix 6
325 END023 Endocervical Type Cervical Adenomyoma 6
326 CRV017 Cervical Mullerian Papilloma 6
327 OVR036 Ovarian Endometrioid Cystadenofibroma 6
328 GNT034 Giant Adenofibroma of the Breast 6
329 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 6
330 MLG025 Male Genital Organ Stricture 6
331 UTR005 Uterine Corpus Adenomatoid Tumor 6
332 UTR015 Uterine Corpus Myxoid Leiomyoma 6
333 ADN019 Adenomyoma of Uterine Corpus 6
334 UTR023 Uterine Corpus Epithelioid Leiomyosarcoma 6
335 UTR021 Uterine Corpus Myxoid Leiomyosarcoma 6
336 VGN007 Vaginal Villous Adenoma 6
337 UTR007 Uterine Corpus Apoplectic Leiomyoma 6
338 UTR022 Uterine Corpus Atypical Polypoid Adenomyoma 6
339 MKT001 Mikati-Najjar-Sahli Syndrome 6
340 c INF020 Infertility Due to Extratesticular Cause 5
341 c RRN020 Rare Infertility 5
342 SRS013 Serous or Mucinous Cystadenoma of Childhood 5
343 CRV041 Cervix Endometrial Stromal Tumor 5
344 VGN009 Vaginal Tubular Adenoma 5
345 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
346 UTR055 Uterine Cervical Aplasia and Agenesis 5
347 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
348 HYP033 Hypertrophic Elongation of Cervix 5
349 ACT054 Acute Female Pelvic Peritonitis 5
350 CHR032 Chronic Subinvolution of Uterus 4
351 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
352 NNS001 Non Specific Chronic Endometritis 4
353 VGN006 Vaginal Endometrial Stromal Tumor 4
354 c OVR071 Ovarian Insufficiency, Familial 4
355 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
356 TMX001 Tamoxifen-Related Endometrial Lesion 3
357 ANM050 Anomaly of Puberty or/and Menstrual Cycle 3
358 SYN100 Syndromic Uterovaginal Malformation 3
359 P MCR256 Microphthalmia, Syndromic 9 59
360 c MCR261 Microphthalmia, Syndromic 2 44
361 c MCR241 Microphthalmia, Syndromic 3 43
362 c MCR263 Microphthalmia, Syndromic 1 39
363 c MCR312 Microphthalmia, Syndromic 10 34
364 c MCR251 Microphthalmia, Syndromic 6 34
365 c MCR245 Microphthalmia, Syndromic 8 33
366 c MCR252 Microphthalmia, Syndromic 5 32
367 c MCR212 Microphthalmia, Syndromic 12 26
368 c MCR262 Microphthalmia, Syndromic 4 24
369 c MCR228 Microphthalmia, Syndromic 13 23
370 c MCR217 Microphthalmia, Syndromic 11 21
371 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 22
372 MRB006 Morbid Obesity and Spermatogenic Failure 19
373 P RBN002 Robinow Syndrome 51
374 c RBN017 Robinow Syndrome, Autosomal Dominant 2 41
375 c ATS082 Autosomal Dominant Robinow Syndrome 39
376 c RBN020 Robinow Syndrome, Autosomal Dominant 3 36
377 c RBN023 Robinow Syndrome, Autosomal Recessive 2 16
378 P LYD011 Leydig Cell Hypoplasia 32
379 MRC004 Murcs Association 31
380 P HYP730 Hypogonadotropic Hypogonadism 54
381 GST059 Gestational Trophoblastic Tumor 32
382 c CNG562 Congenital Hypogonadotropic Hypogonadism 31
383 c RRD011 Rare Disorder with Hypogonadotropic Hypogonadism 7
384 PGM001 Pigmented Villonodular Synovitis 52
385 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 50
386 EXS017 Exstrophy of Bladder 45
387 c RBN018 Robinow Syndrome, Autosomal Dominant 1 42
388 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 36
389 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 10
390 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
391 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
392 P RRF012 Rare Female Infertility 6
393 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
394 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
395 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
396 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
397 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
398 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
399 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
400 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
401 TST022 Testicular Cancer, Childhood 3
402 RRG035 Rare Genetic Disorder with Obstructive Azoospermia 3
403 c OBS766 Obsolete: Male Infertility with Normal Virilization Due to Testicular Defect Associated with Spinal Cord Injury 3
404 c OBS787 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with an Immune Disorder 3
405 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
406 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
407 P OVR042 Ovarian Cancer 89
408 SCK003 Sickle Cell Anemia 74
409 P FRG001 Fragile X Syndrome 69
410 P LPR002 Leopard Syndrome 64
411 c PRC016 Pre-Eclampsia 63
412 P PNL012 Penile Cancer 61
413 UTR024 Uterine Carcinosarcoma 60
414 P INF032 Infertility 60
415 CRV038 Cervical Squamous Cell Carcinoma 58
416 GST033 Gestational Diabetes 58
417 P MLN007 Male Infertility 57
418 MST005 Mastitis 55
419 OVR059 Ovary Adenocarcinoma 54
420 PLV003 Pelvic Inflammatory Disease 54
421 VGN023 Vaginitis 54
422 HLL004 Hellp Syndrome 53
423 P ECL001 Eclampsia 53
424 MMM001 Mammary Paget's Disease 53
425 MYM001 Myoma 52
426 BCT002 Bacterial Vaginosis 52
427 AZS001 Azoospermia 51
428 c SVR005 Severe Pre-Eclampsia 50
429 VLV011 Vulvovaginal Candidiasis 50
430 TST044 Testicular Torsion 49
431 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 49
432 PGT003 Paget Disease, Extramammary 49
433 END062 Endometrial Hyperplasia 49
434 P CRV031 Cervical Adenocarcinoma 49
435 END031 Endometrial Stromal Sarcoma 49
436 ANV001 Anovulation 47
437 PLC003 Placental Site Trophoblastic Tumor 47
438 c CRV002 Cervix Uteri Carcinoma in Situ 47
439 HYD005 Hydrocele 47
440 PLR023 Polr3-Related Leukodystrophy 46
441 PSD009 Pseudohermaphroditism 46
442 GST010 Gestational Trophoblastic Neoplasm 46
443 DRM013 Dermoid Cyst 46
444 CMP034 Complete Androgen Insensitivity Syndrome 46
445 VGN020 Vaginal Disease 45
446 VLV044 Vulvar Intraepithelial Neoplasia 44
447 BRS056 Breast Metaplastic Carcinoma 44
448 SMN007 Seminoma 43
449 MLR006 Male Reproductive Organ Cancer 43
450 UTR033 Uterine Corpus Cancer 43
451 GND001 Gonadoblastoma 42
452 P OVR010 Ovarian Brenner Tumor 42
453 OVR044 Ovarian Carcinosarcoma 42
454 ADN020 Adenosarcoma 41
455 PRM013 Premature Menopause 41
456 UTR011 Uterine Corpus Serous Adenocarcinoma 41
457 OVR060 Ovary Epithelial Cancer 40
458 FML005 Female Reproductive Endometrioid Cancer 39
459 c OVR114 Ovarian Cancer 1 39
460 c SPR043 Spermatogenic Failure 9 39
461 ECT093 Ectopic Cushing Syndrome 39
462 END075 Endocervical Adenocarcinoma 39
463 ZKV001 Zika Virus Infection 39
464 MLL009 Mullerian Aplasia 39
465 P SRT003 Sertoli-Leydig Cell Tumor 38
466 KRK001 Krukenberg Carcinoma 38
467 CRV026 Cervical Clear Cell Adenocarcinoma 37
468 SPR017 Spermatocele 37
469 c MLG059 Malignant Struma Ovarii 36
470 LGN005 Ligneous Conjunctivitis 36
471 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 36
472 END025 Endometrial Squamous Cell Carcinoma 36
473 CRV033 Cervical Adenosquamous Carcinoma 35
474 CHR075 Choriocarcinoma of Ovary 35
475 c LPR012 Leopard Syndrome 1 35
476 c FML353 Familial Ovarian Cancer 35
477 HMM001 Hemometra 35
478 OVR104 Ovarian Melanoma 35
479 P SRT002 Sertoli Cell Tumor 34
480 CHR010 Chorioangioma 34
481 SPT023 Septate Uterus 34
482 VLV020 Vulvar Melanoma 34
483 FLL029 Fallopian Tube Disease 34
484 PST103 Postpartum Psychosis 33
485 PRS006 Prostatic Acinar Adenocarcinoma 33
486 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 33
487 CRV013 Cervical Adenoid Cystic Carcinoma 33
488 CYT014 Cytochrome P450 Oxidoreductase Deficiency 33
489 PLC006 Placental Choriocarcinoma 33
490 ASH001 Asherman's Syndrome 33
491 LKR001 Leukorrhea 32
492 END032 Endometrial Clear Cell Adenocarcinoma 32
493 BRT014 Bartholin's Duct Cyst 32
494 RTT004 Rete Testis Adenocarcinoma 32
495 PRP098 Proprotein Convertase 1/3 Deficiency 32
496 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 32
497 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 31
498 OVR013 Ovarian Mucinous Cystadenocarcinoma 31
499 OVR054 Ovarian Mucinous Neoplasm 30
500 GRN033 Granulomatous Mastitis 30
501 END013 Endometrial Small Cell Carcinoma 30
502 SPR018 Spermatocytoma 29
503 END018 Endometrium Carcinoma in Situ 29
504 PRS002 Prostate Lymphoma 29
505 PRS027 Prostate Transitional Cell Carcinoma 29
506 CRP004 Corpus Luteum Cyst 28
507 UTR032 Uterine Body Mixed Cancer 28
508 c SPR111 Spermatogenic Failure 16 28
509 OVR123 Ovarian Seromucinous Carcinoma 28
510 PRS044 Prostate Sarcoma 28
511 OVR097 Ovarian Fibrothecoma 28
512 VLV038 Vulvar Sarcoma 27
513 PRT086 Partial Hydatidiform Mole 27
514 UTR037 Uterine Corpus Sarcoma 27
515 MLG164 Malignant Epithelial Tumor of Ovary 27
516 c SPR118 Spermatogenic Failure 1 26
517 UTR054 Uterine Hypoplasia 26
518 c CLR095 Ciliary Dyskinesia, Primary, 19 26
519 END015 Endometrial Adenosquamous Carcinoma 26
520 PRS032 Prostate Leiomyosarcoma 26
521 BRT060 Bartholin's Gland Disease 26
522 P SLP004 Salpingo-Oophoritis 26
523 MLG154 Malignant Sertoli-Leydig Cell Tumor of the Ovary 25
524 INV018 Invasive Mole 25
525 c PRS031 Prostate Carcinoma in Situ 25
526 MCN003 Mucinous Ovarian Cystadenoma 25
527 PRS015 Prostate Signet Ring Cell Adenocarcinoma 25
528 END029 Endocervical Carcinoma 25
529 FBR016 Fibrosclerosis of Breast 25
530 BCR002 Bicornuate Uterus 25
531 RPR001 Reproductive Organ Benign Neoplasm 25
532 PRS004 Prostate Squamous Cell Carcinoma 24
533 VLV009 Vulvar Leiomyoma 24
534 VLV019 Vulvar Syringoma 24
535 c LPR007 Leopard Syndrome 3 24
536 PRV001 Parovarian Cyst 24
537 OVR098 Ovarian Fibroma 24
538 OVR001 Ovarian Stromal Hyperthecosis 24
539 c SPR088 Spermatogenic Failure 7 23
540 TRC121 Trichomonas Vaginalis Trichomoniasis 23
541 END003 Endometrial Stromal Nodule 23
542 CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
543 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 23
544 c PNL017 Penile Cancer, Adult 23
545 c LPR011 Leopard Syndrome 2 23
546 OVR027 Ovarian Squamous Cell Carcinoma 23
547 VLV002 Vulva Basal Cell Carcinoma 22
548 RTT003 Rete Testis Adenoma 22
549 MLR005 Male Reproductive Organ Benign Neoplasm 22
550 c SPR115 Spermatogenic Failure 19 21
551 PDT022 Pediatric Ovarian Germ Cell Tumor 21
552 SBM005 Submucous Uterine Fibroid 21
553 BRT012 Bartholin's Gland Adenoma 21
554 c SPR084 Spermatogenic Failure 2 21
555 OVR026 Ovary Transitional Cell Carcinoma 21
556 c SPR114 Spermatogenic Failure 20 20
557 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 20
558 c SPR082 Spermatogenic Failure 10 20
559 c SPR110 Spermatogenic Failure 17 20
560 HRD114 Hereditary Site-Specific Ovarian Cancer Syndrome 20
561 c SPR081 Spermatogenic Failure 11 19
562 SMN005 Seminal Vesicle Adenocarcinoma 19
563 c SPR087 Spermatogenic Failure 12 19
564 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 19
565 c CHR018 Chronic Salpingo-Oophoritis 19
566 c MLG053 Malignant Ovarian Brenner Tumor 19
567 PRS009 Prostate Stromal Sarcoma 19
568 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
569 PRS010 Prostate Embryonal Rhabdomyosarcoma 18
570 c SPR125 Spermatogenic Failure 23 18
571 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 18
572 c MLN078 Male Infertility Due to Acephalic Spermatozoa 18
573 OVR103 Ovarian Endometrial Cancer 17
574 VLV035 Vulvar Benign Neoplasm 17
575 c SPR095 Spermatogenic Failure 14 17
576 EPD014 Epididymis Adenocarcinoma 17
577 ATR009 Atrophy of Testis 17
578 c SPR116 Spermatogenic Failure 15 17
579 PNS002 Penis Carcinoma in Situ 17
580 c ERL005 Early Invasive Cervical Adenocarcinoma 17
581 c SPR112 Spermatogenic Failure 21 17
582 NNS033 Non-Syndromic Male Infertility Due to Sperm Motility Disorder 17
583 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
584 c SPR124 Spermatogenic Failure 22 16
585 CRV032 Cervical Adenomyoma 16
586 EPD017 Epididymis Cancer 16
587 PRS022 Prostate Leiomyoma 16
588 ADN007 Adenosquamous Prostate Carcinoma 15
589 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
590 MCR015 Microinvasive Cervical Squamous Cell Carcinoma 15
591 GST035 Gestational Ovarian Choriocarcinoma 15
592 HYP053 Hypercalcemic Type Ovarian Small Cell Carcinoma 14
593 CLT001 Clitoris Cancer 14
594 LNG081 Longitudinal Vaginal Septum 14
595 VLV049 Vulvar Basal Cell Carcinoma 14
596 OVR040 Ovarian Clear Cell Cystadenocarcinoma 14
597 CRV024 Cervical Adenoid Basal Carcinoma 14
598 CRC040 Carcinosarcoma of the Cervix Uteri 14
599 OVR033 Ovary Papillary Carcinoma 14
600 VGN004 Vaginal Yolk Sac Tumor 14
601 EXC001 Exocervical Carcinoma 13
602 UTR056 Uterine Corpus Endometrial Carcinoma 13
603 6Q1002 6q16 Microdeletion Syndrome 13
604 VGN010 Vaginal Tubulovillous Adenoma 13
605 CRV008 Cervical Basaloid Squamous Cell Carcinoma 13
606 VLV030 Vulvar Proximal-Type Epithelioid Sarcoma 13
607 c ACT031 Acute Salpingo-Oophoritis 13
608 P VGN018 Vaginal Carcinosarcoma 13
609 FLL006 Fallopian Tube Endometriosis 12
610 TST019 Testis Sarcoma 12
611 P CRV009 Cervix Melanoma 12
612 SMN002 Seminal Vesicle Cystadenoma 12
613 c RRM015 Rare Male Infertility 12
614 VGN015 Vaginal Adenoma 12
615 MST003 Masters-Allen Syndrome 12
616 UND002 Undifferentiated Carcinoma of the Corpus Uteri 12
617 BRS039 Breast Fibroadenosis 12
618 SCR013 Scrotum Squamous Cell Carcinoma 12
619 VGN016 Vaginal Benign Neoplasm 12
620 PNS005 Penis Mixed Squamous Cell Carcinoma 11
621 LMY012 Leiomyosarcoma of the Cervix Uteri 11
622 c PRM047 Primary Malignant Melanoma of the Cervix 11
623 CRV029 Cervical Keratinizing Squamous Cell Carcinoma 11
624 SBS001 Subserous Uterine Fibroid 11
625 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 11
626 WLF005 Wolffian Adnexal Neoplasm 11
627 OVR020 Ovarian Wilms' Cancer 11
628 LKP002 Leukoplakia of Vagina 11
629 PRS005 Prostate Angiosarcoma 11
630 OVR016 Ovarian Endometrioid Stromal Sarcoma 11
631 VGN005 Vaginal Endometrial Stromal Sarcoma 11
632 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 11
633 c MLN085 Male Infertility Due to Obstructive Azoospermia 11
634 MLG166 Malignant Sex Cord Stromal Tumor of Ovary 11
635 LBM005 Labia Minora Cancer 11
636 CRV012 Cervical Verrucous Carcinoma 10
637 LBM004 Labium Majus Cancer 10
638 SCR005 Scrotum Paget's Disease 10
639 PRM193 Primary Non-Gestational Choriocarcinoma of Ovary 10
640 PRT111 Partial Septate Uterus 10
641 VLV005 Vulvar Liposarcoma 10
642 P RRC012 Rare Cancer of Cervix Uteri 10
643 EPD013 Epididymis Adenomatoid Tumor 10
644 c MLN081 Male Infertility Due to Sperm Motility Disorder 10
645 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 10
646 END024 Endometrial Transitional Cell Carcinoma 9
647 CRV023 Cervical Adenofibroma 9
648 c RRB002 Rare Benign Breast Tumor 9
649 UTR030 Uterine Adnexa Cancer 9
650 VLV016 Vulvar Apocrine Adenocarcinoma 9
651 SRC005 Sarcomatoid Penile Squamous Cell Carcinoma 9
652 VLV006 Vulva Verrucous Carcinoma 9
653 VLV001 Vulvar Keratinizing Squamous Cell Carcinoma 9
654 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
655 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 9
656 PNS004 Penis Paget's Disease 9
657 VLV023 Vulvar Eccrine Porocarcinoma 9
658 OVR055 Ovarian Papillary Neoplasm 9
659 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 9
660 CRV018 Cervix Squamous Papilloma 9
661 PRT028 Paratesticular Lipoma 8
662 VLV004 Vulvar Sebaceous Carcinoma 8
663 FLL018 Fallopian Tube Teratoma 8
664 TRN048 Transitional Cell Carcinoma of the Corpus Uteri 8
665 SLT004 Solitary Cyst of Breast 8
666 UTR029 Uterus Perivascular Epithelioid Cell Tumor 8
667 UTR026 Uterine Corpus Endometrial Stromal Sarcoma 7
668 RTV005 Rete Ovarii Neoplasm 7
669 PLM023 Pulmonary Artery Choriocarcinoma 7
670 CHL038 Childhood Choriocarcinoma of the Ovary 7
671 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
672 FLL004 Fallopian Tube Serous Papilloma 7
673 END010 Endometriosis of Rectovaginal Septum and Vagina 7
674 TST002 Testicular Brenner Tumor 7
675 RTV002 Rete Ovarii Adenocarcinoma 7
676 UTR036 Uterine Corpus Leiomyomatosis 7
677 UTR034 Uterine Corpus Cellular Leiomyoma 7
678 UTR035 Uterine Corpus Choriocarcinoma 7
679 UNC003 Unicervical Bicornuate Uterus 7
680 VLV045 Vulvovaginal Rhabdomyosarcoma 7
681 CRV034 Cervical Benign Neoplasm 7
682 SCR012 Scrotum Melanoma 7
683 MNR001 Minor Vestibular Glands Adenoma 7
684 PRS001 Prostate Colloid Adenocarcinoma 7
685 MLG117 Malignant Germ Cell Tumor of the Cervix Uteri 7
686 UTR019 Uterine Corpus Lipoleiomyoma 7
687 UTR059 Uterovaginal Malformation 7
688 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
689 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 6
690 ISL100 Isolated Congenital Breast Hypoplasia/aplasia 6
691 END012 Endometriosis in Scar of Skin 6
692 PRM017 Parametrium Malignant Neoplasm 6
693 CRV003 Cervical Endometrial Stromal Sarcoma 6
694 FLL009 Fallopian Tube Adenomatoid Tumor 6
695 VLV025 Vulvar Alveolar Soft Part Sarcoma 6
696 UTR025 Uterine Corpus Adenofibroma 6
697 CHL036 Childhood Mature Teratoma of the Ovary 6
698 BRT009 Bartholin's Gland Adenomyoma 6
699 VLL002 Villoglandular Endometrial Endometrioid Adenocarcinoma 6
700 VLV003 Vulvar Basaloid Squamous Cell Carcinoma 6
701 PNS006 Penis Papillary Carcinoma 6
702 c MLG021 Malignant Sertoli-Leydig Cell Tumor 6
703 c SMN004 Seminal Vesicle Chronic Gonorrhea 6
704 GST021 Gestational Uterine Corpus Choriocarcinoma 6
705 c MLN082 Male Infertility Due to Sperm Disorder 6
706 VLV040 Vulvar Squamous Papilloma 6
707 VLV022 Vulvar Trichoepithelioma 6
708 OVR028 Ovarian Squamous Cell Neoplasm 6
709 UTR004 Uterus Intravascular Leiomyomatosis 6
710 RTV004 Rete Ovarii Adenoma 6
711 END022 Endometrial Type Cervical Adenomyoma 6
712 THC005 Theca Steroid-Producing Cell Malignant Tumor of Ovary, Not Further Specified 6
713 HRN002 Hernia of Ovary and Fallopian Tube 5
714 c BNG035 Benign Vaginal Carcinosarcoma 5
715 VGN022 Vaginal Squamous Tumor 5
716 CHN007 Chondroid Syringoma of the Vulva 5
717 MCR007 Micropapillomatosis Labialis 5
718 OXY001 Oxyphilic Endometrial Endometrioid Adenocarcinoma 5
719 VLV028 Vulvar Non-Keratinizing Squamous Cell Carcinoma 5
720 VLV024 Vulvar Clear Cell Hidradenocarcinoma 5
721 CRV020 Cervical Non-Keratinizing Squamous Cell Carcinoma 5
722 GLS005 Glassy Cell Variant Cervical Adenosquamous Carcinoma 5
723 MLG161 Malignant Mixed Epithelial and Mesenchymal Tumor of Corpus Uteri 5
724 ADN060 Adenoid Cystic Carcinoma of the Corpus Uteri 5
725 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
726 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
727 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
728 MLG026 Male Genital Organ Vascular Disease 5
729 UTR014 Uterine Corpus Epithelioid Leiomyoma 5
730 UTR017 Uterine Corpus Dissecting Leiomyoma 5
731 VLV017 Vulvar Nodular Hidradenoma 5
732 RTV001 Rete Ovarii Cystadenoma 5
733 RTV003 Rete Ovarii Cystadenofibroma 5
734 CRV021 Cervical Atypical Polypoid Adenomyoma 5
735 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
736 PNS001 Penis Non-Invasive Verrucous Carcinoma 5
737 PNS003 Penis Basaloid Carcinoma 5
738 VLV027 Vulvar Keratoacanthoma-Like Carcinoma 5
739 UTR003 Uterine Corpus Diffuse Leiomyomatosis 4
740 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
741 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
742 RRB005 Rare Breast Malformation 4
743 PPL042 Papillary Carcinoma of the Corpus Uteri 4
744 CHY001 Chylocele of Tunica Vaginalis 4
745 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
746 UTR008 Uterine Corpus Adenocarcinofibroma 3
747 RRN006 Rare Non-Malformative Breast Disease 3
748 RRD006 Rare Idiopathic Male Infertility 3
749 c FRG004 Fragile X Syndrome Type 1 3
750 c FRG005 Fragile X Syndrome Type 2 3
751 c FRG006 Fragile X Syndrome Type 3 3
752 SYN099 Syndromic Breast Hypoplasia/aplasia 3
753 DFC007 Deficient Breast Volume or Number 3
754 EXC006 Excess Breast Volume or Number 3
755 ADN059 Adenosarcoma of the Corpus Uteri 3
756 RRN004 Rare Non-Malformative Uterine Adnexal Disease 3
757 URG001 Urogenital Tuberculosis 29
758 CLR014 Clear Cell Adenoma 29
759 LMB076 Lumbar Syndrome 24
760 P BRS047 Breast Cancer 99
761 CRV035 Cervical Cancer 77
762 P MYC084 Mycobacterium Tuberculosis 1 69
763 c MYT021 Myotonic Dystrophy 1 68
764 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
765 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 65
766 END041 Endometrial Adenocarcinoma 64
767 P KLL001 Kallmann Syndrome 64
768 FLL027 Fallopian Tube Carcinoma 64
769 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
770 PTT048 Pituitary Adenoma, Prolactin-Secreting 61
771 CRY035 Cryptorchidism, Unilateral or Bilateral 61
772 SPP011 Suppression of Tumorigenicity 12 61
773 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59
774 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 59
775 P SYP003 Syphilis 59
776 PSD021 Pseudovaginal Perineoscrotal Hypospadias 58
777 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 57
778 ORL005 Oral Candidiasis 56
779 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 55
780 P HYP040 Hypospadias 54
781 VLV032 Vulva Cancer 53
782 CHC001 Chickenpox 53
783 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 52
784 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 52
785 CRV040 Cervix Carcinoma 52
786 P MYT002 Myotonic Dystrophy 52
787 c INF023 Inflammatory Breast Carcinoma 52
788 c BRS049 Breast Carcinoma in Situ 51
789 VGN017 Vaginal Cancer 51
790 P 46X052 46,xx Sex Reversal 1 50
791 c CNT075 Central Precocious Puberty 50
792 TST015 Testicular Disease 49
793 c BRS110 Breast-Ovarian Cancer, Familial 1 49
794 P PRC019 Precocious Puberty 48
795 LPT006 Leptin Receptor Deficiency 47
796 PRP007 Priapism 47
797 c BRS111 Breast-Ovarian Cancer, Familial 2 46
798 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46
799 END002 Endometrioid Ovary Carcinoma 45
800 c SPR009 Sporadic Breast Cancer 45
801 ENT001 Enterocele 44
802 P RRB004 Rare Breast Tumor 43
803 CRR002 Currarino Syndrome 43
804 c SPR086 Spermatogenic Failure 3 41
805 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 41
806 P SPR041 Spermatogenic Failure 6 41
807 BSM002 Bosma Arhinia Microphthalmia Syndrome 40
808 P TST026 Testicular Germ Cell Cancer 40
809 EST007 Estrogen Resistance 40
810 PLN006 Poland Syndrome 39
811 GST052 Gestational Choriocarcinoma 39
812 P SPR119 Spermatogenic Failure, X-Linked, 1 38
813 FLL023 Fallopian Tube Adenocarcinoma 38
814 c CNG033 Congenital Syphilis 38
815 c SCN006 Secondary Syphilis 38
816 OVR050 Ovarian Embryonal Carcinoma 37
817 OVR047 Ovarian Cystadenocarcinoma 37
818 RRC011 Rare Cancer of Corpus Uteri 37
819 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 36
820 PNS010 Penis Squamous Cell Carcinoma 36
821 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
822 PRT049 Partial Deletion of Y 34
823 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34
824 BCK005 Becker Nevus Syndrome 33
825 PRS008 Prostate Small Cell Carcinoma 33
826 c SPR093 Spermatogenic Failure, Y-Linked, 2 33
827 OVR062 Ovary Serous Adenocarcinoma 33
828 WLF006 Wolffian Duct Adenocarcinoma 33
829 END043 Endometrial Stromal Tumor 33
830 OVR109 Ovarian Germ Cell Teratoma 32
831 VLV021 Vulval Paget's Disease 32
832 CRV036 Cervical Carcinosarcoma 32
833 CLR137 Clear Cell Adenocarcinoma of the Ovary 31
834 c SPR089 Spermatogenic Failure 4 31
835 LTM002 Luteoma 31
836 c PRC047 Precocious Puberty, Central, 1 31
837 c MLG072 Malignant Leydig Cell Tumor 31
838 OVR051 Ovarian Endodermal Sinus Tumor 30
839 c PRM022 Primary Syphilis 30
840 SCR016 Scrotal Carcinoma 30
841 c BNG029 Benign Struma Ovarii 30
842 c SPR113 Spermatogenic Failure 18 30
843 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
844 SCR017 Scrotum Neoplasm 29
845 TST007 Testicular Infarct 29
846 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 29
847 NPP006 Nipples, Supernumerary 29
848 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
849 IDP034 Idiopathic Central Precocious Puberty 28
850 c SPR061 Spermatogenic Failure 5 28
851 CYS015 Cystadenofibroma 28
852 c BRS088 Breast-Ovarian Cancer, Familial 3 28
853 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
854 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27
855 c BRS098 Breast-Ovarian Cancer, Familial 4 27
856 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
857 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 27
858 CRV022 Cervix Small Cell Carcinoma 27
859 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 27
860 c ERL002 Early Congenital Syphilis 27
861 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 27
862 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 26
863 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
864 YNG002 Young Syndrome 26
865 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 26
866 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 26
867 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
868 FLL028 Fallopian Tube Carcinosarcoma 26
869 VLV031 Vulva Adenocarcinoma 26
870 TTR013 Tetrasomy X 25
871 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
872 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
873 VLV050 Vulvar Adenocarcinoma 25
874 END001 Endometrial Mucinous Adenocarcinoma 25
875 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 25
876 c LTC001 Late Congenital Syphilis 25
877 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
878 MTR011 Mature Teratoma of the Ovary 25
879 UTR031 Uterine Benign Neoplasm 25
880 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
881 FLL003 Fallopian Tube Endometrioid Adenocarcinoma 24
882 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 24
883 c MLG033 Malignant Ovarian Cyst 24
884 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
885 OVR003 Ovarian Angiosarcoma 24
886 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 23
887 SMN006 Seminal Vesicle Tumor 23
888 PRS019 Prostate Adenoid Cystic Carcinoma 23
889 c PRC046 Precocious Puberty, Central, 2 23
890 CRV037 Cervical Mucinous Adenocarcinoma 23
891 UTR009 Uterus Carcinoma in Situ 22
892 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
893 RTT005 Rete Testis Neoplasm 21
894 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 20
895 c SPR091 Spermatogenic Failure, X-Linked, 2 20
896 c SPR042 Spermatogenic Failure 8 20
897 CRV014 Cervical Adenoma Malignum 19
898 MCN010 Mucinous Cystadenofibroma 19
899 c SPR096 Spermatogenic Failure 13 18
900 VLV046 Vulvovaginal Gingival Syndrome 18
901 MLG118 Malignancy Diagnosed During Pregnancy 18
902 VST005 Vestibular Gland Benign Neoplasm 17
903 FLL017 Fallopian Tube Squamous Cell Carcinoma 17
904 PRM194 Primary Peritoneal Serous/papillary Carcinoma 17
905 c SPR092 Spermatogenic Failure, Y-Linked, 1 17
906 VGN011 Vagina Leiomyosarcoma 17
907 MCN019 Mucinous Adenocarcinoma of Ovary 17
908 SPT015 Septate Vagina 16
909 OVR009 Ovarian Gonadoblastoma 16
910 MLG155 Maligant Granulosa Cell Tumor of the Ovary 16
911 c KLL008 Kallmann Syndrome 6 16
912 c PST093 Posterior Hypospadias 16
913 c PRS003 Prostate Malignant Phyllodes Tumor 15
914 OVR004 Ovary Neuroendocrine Neoplasm 15
915 ISL068 Isolated Partial Vaginal Agenesis 15
916 CRV001 Cervical Endometrioid Adenocarcinoma 15
917 HYP689 Hypomelia with Mullerian Duct Anomalies 15
918 c TST017 Testicular Malignant Germ Cell Cancer 15
919 TRN046 Transverse Vaginal Septum 15
920 OVR037 Ovarian Solid Teratoma 15
921 c MYC055 Mycobacterium Tuberculosis 3 15
922 LPM001 Lipoma of Spermatic Cord 15
923 OVR056 Ovarian Primitive Germ Cell Tumor 15
924 CMP079 Complete Septate Uterus 15
925 PSD091 Pseudounicornuate Uterus 15
926 SRC029 Sarcoma of Cervix Uteri 14
927 c HYP545 Hypospadias 3, Autosomal 14
928 c MYC054 Mycobacterium Tuberculosis 2 14
929 c KLL007 Kallmann Syndrome 5 13
930 SQM012 Squamous Cell Carcinoma of the Corpus Uteri 13
931 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 13
932 BRT015 Bartholin's Gland Adenocarcinoma 12
933 TRN045 True Unicornuate Uterus 12
934 PNS007 Penis Sarcoma 12
935 FLL014 Fallopian Tube Transitional Cell Carcinoma 12
936 MYX002 Myxoid Liposarcoma of the Ovary 12
937 ADN062 Adenoid Basal Carcinoma of the Cervix Uteri 12
938 c KLL005 Kallmann Syndrome 3 12
939 LPS003 Liposarcoma of the Ovary 12
940 CLR006 Clear Cell Cystadenofibroma 12
941 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
942 KLL013 Kallmann Syndrome-Heart Disease Syndrome 10
943 PRR005 Paraurethral Gland Cancer 10
944 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 10
945 CRD171 Cordiform Uterus 10
946 c SCN039 Secondary Central Precocious Puberty 10
947 VGN002 Vagina Leiomyoma 10
948 FLL024 Fallopian Tube Adenofibroma 9
949 OVR008 Ovarian Mucinous Cystadenofibroma 9
950 P OVR053 Ovarian Mucinous Adenofibroma 9
951 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
952 TST011 Testis Rhabdomyosarcoma 9
953 FLL010 Fallopian Tube Leiomyoma 9
954 OVR031 Ovarian Papillary Cystadenoma 9
955 UTR041 Uterine Ligament Cancer 9
956 MLG156 Malignant Dysgerminomatous Germ Cell Tumor of the Ovary 9
957 FLL025 Fallopian Tube Benign Neoplasm 8
958 END008 Endometriosis of Intestine 8
959 GNC009 Gonococcal Seminal Vesiculitis 8
960 OVR038 Ovarian Fetiform Teratoma 8
961 CWP002 Cowper Gland Carcinoma 8
962 GLN007 Glans Penis Cancer 8
963 c KLL006 Kallmann Syndrome 4 8
964 VGN021 Vaginal Glandular Tumor 8
965 BRT003 Bartholin's Gland Small Cell Carcinoma 8
966 PNS011 Penis Verrucous Carcinoma 7
967 c RRP025 Rare Precocious Puberty 7
968 BRT010 Bartholin's Gland Transitional Cell Carcinoma 7
969 FLL030 Fallopian Tube Germ Cell Cancer 7
970 P ADL024 Adult Central Nervous System Choriocarcinoma 7
971 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
972 RRB001 Rare Benign Ovarian Tumor 7
973 OVR019 Ovarian Malignant Mesothelioma 7
974 CRV007 Cervical Alveolar Soft Part Sarcoma 7
975 TST008 Testis Polyembryoma 7
976 P SYN117 Syndrome with Disorder of Sex Development of Gynecological Interest 7
977 VLL004 Villoglandular Variant Cervical Mucinous Adenocarcinoma 7
978 FLL005 Fallopian Tube Adenosarcoma 6
979 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
980 MLG162 Malignant Mixed Epithelial and Mesenchymal Tumor of Cervix Uteri 6
981 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
982 VGN032 Vaginal Squamous Papilloma 6
983 CHL063 Childhood Teratoma of the Ovary 6
984 CHL011 Childhood Immature Teratoma of Ovary 6
985 P SMN001 Seminal Vesicle Acute Gonorrhea 6
986 VLV037 Vulvar Glandular Tumor 6
987 FLL002 Fallopian Tube Mucinous Tumor 6
988 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 6
989 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 6
990 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 6
991 MLG127 Malignant Non-Dysgerminomatous Germ Cell Tumor of Ovary 6
992 PPL043 Papillary Carcinoma of the Cervix Uteri 6
993 CRV011 Cervical Serous Adenocarcinoma 5
994 OVR014 Ovarian Clear Cell Cystadenofibroma 5
995 SGN004 Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma 5
996 VLV029 Vulvar Eccrine Adenocarcinoma 5
997 PLY009 Polyembryoma of the Ovary 5
998 OVR007 Ovarian Endometrioid Cystadenoma 5
999 SCR004 Secretory Uterine Corpus Endometrioid Adenocarcinoma 5
1000 MCN002 Mucin-Rich Endometrial Endometrioid Adenocarcinoma 5
1001 SRC012 Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma 5
1002 END027 Endometrial Mixed Adenocarcinoma 5
1003 FLL012 Fallopian Tube Cystadenofibroma 5
1004 MLG114 Malignant Germ Cell Tumor of the Corpus Uteri 5
1005 MLG165 Malignant Non-Epithelial Tumor of Ovary 5
1006 P MLN061 Male Infertility with Spermatogenesis Disorder 5
1007 BCR004 Bicervical Bicornuate Uterus with Patent Cervix and Vagina 5
1008 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1009 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1010 LTT003 Littre Gland Carcinoma 5
1011 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
1012 AGN009 Agenesis and Aplasia of Uterine Body 5
1013 GLS017 Glassy Cell Carcinoma of the Cervix Uteri 5
1014 NNC016 Non-Acquired Premature Ovarian Failure 5
1015 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1016 UTR013 Uterine Ligament Papillary Cystadenoma 5
1017 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 5
1018 END026 Endocervical Type Cervical Mucinous Adenocarcinoma 5
1019 CRC031 Carcinofibroma of the Corpus Uteri 5
1020 c MLN062 Male Infertility with Spermatogenesis Disorder Due to Single Gene Mutation 4
1021 SXC003 Sex Cord-Stromal Benign Neoplasm 4
1022 FML019 Familiar Ovarian Carcinoma 4
1023 FML007 Familiar Fallopian Tube Carcinoma 4
1024 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
1025 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
1026 IST001 Isthmus Cancer 4
1027 BNG082 Benign Tumor of Fallopian Tubes 4
1028 c CHR461 Choriocarcinoma of the Central Nervous System 4
1029 c 46X061 46,xy Disorder of Sex Development of Gynecological Interest 3
1030 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1031 OVR122 Ovarian Sex Cord-Stromal Benign Neoplasm 3
1032 RRD008 Rare Disorder Related with Pregnancy, Childbirth and Puerperium 3
1033 RRV003 Rare Vulvovaginal Tumor 3
1034 HYP849 Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies 3
1035 RRN008 Rare Non-Malformative Uterovaginal or Vulvovaginal Disease 3
1036 NNS049 Non-Syndromic Uterovaginal Malformation 3
1037 GND016 Gonadal Dysgenesis of Gynecological Interest 3
1038 P HRP006 Herpes Simplex 66
1039 c CNG100 Congenital Herpes Simplex 14
1040 P ATX030 Ataxia-Telangiectasia 83
1041 MCC012 Mccune-Albright Syndrome 70
1042 P DBT009 Diabetes Mellitus 66
1043 OVR029 Ovarian Hyperstimulation Syndrome 63
1044 CRC021 Carcinosarcoma 62
1045 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
1046 P PLY014 Polycystic Kidney Disease 61
1047 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61
1048 P BRS044 Breast Adenocarcinoma 59
1049 c CLR131 Ciliary Dyskinesia, Primary, 1 59
1050 OVR012 Ovarian Serous Cystadenocarcinoma 56
1051 P ACT010 Acth-Secreting Pituitary Adenoma 55
1052 PLC005 Placental Insufficiency 55
1053 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 53
1054 c PTT057 Pituitary Adenoma 4, Acth-Secreting 50
1055 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1056 P OVR106 Ovarian Clear Cell Carcinoma 49
1057 CHR074 Choriocarcinoma 47
1058 PRP009 Peripartum Cardiomyopathy 47
1059 SXC001 Sex Cord-Gonadal Stromal Tumor 46
1060 P SXD002 Sex Development Disorder 45
1061 TBR006 Tuberculoid Leprosy 45
1062 P LYD001 Leydig Cell Tumor 45
1063 SCH071 Schaaf-Yang Syndrome 42
1064 P BNG013 Benign Breast Phyllodes Tumor 41
1065 P ACT244 Acth-Independent Cushing Syndrome 40
1066 c OVR058 Ovarian Small Cell Carcinoma 40
1067 c BRS007 Breast Malignant Phyllodes Tumor 39
1068 CHR076 Choriocarcinoma of the Testis 38
1069 ACT245 Acth-Dependent Cushing Syndrome 38
1070 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 37
1071 48X005 48,xyyy 37
1072 OVR105 Ovarian Serous Carcinoma 37
1073 OVR034 Ovarian Clear Cell Adenocarcinoma 37
1074 ANR018 Anorchia 36
1075 46X012 46,xy Partial Gonadal Dysgenesis 36
1076 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 35
1077 TST004 Testicular Lymphoma 34
1078 OVR011 Ovarian Mucinous Adenocarcinoma 34
1079 P MXD016 Mixed Gonadal Dysgenesis 34
1080 EXT025 Extragonadal Germ Cell Cancer 33
1081 TST020 Testis Seminoma 32
1082 c RRM003 Rare Malignant Breast Tumor 32
1083 c RRD013 Rare Diabetes Mellitus Type 2 32
1084 OVR021 Ovarian Lymphoma 32
1085 EPT003 Epithelioid Trophoblastic Tumor 31
1086 MLL011 Mullerian Aplasia and Hyperandrogenism 30
1087 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 30
1088 5LP001 5-Alpha Reductase Deficiency 29
1089 c TYP027 Type 1 Diabetes Mellitus 10 29
1090 c TYP032 Type 1 Diabetes Mellitus 6 29
1091 OVR015 Ovarian Mixed Germ Cell Neoplasm 29
1092 c CLR066 Ciliary Dyskinesia, Primary, 2 28
1093 c TYP035 Type 1 Diabetes Mellitus 11 28
1094 c RRD004 Rare Adenocarcinoma of the Breast 27
1095 OVR041 Ovarian Benign Neoplasm 27
1096 c CLR090 Ciliary Dyskinesia, Primary, 22 27
1097 c CLR094 Ciliary Dyskinesia, Primary, 28 27
1098 c CLR114 Ciliary Dyskinesia, Primary, 30 27
1099 c TYP037 Type 1 Diabetes Mellitus 13 27
1100 c TYP033 Type 1 Diabetes Mellitus 7 27
1101 c TYP028 Type 1 Diabetes Mellitus 2 27
1102 P TST016 Testicular Granulosa Cell Tumor 27
1103 HMT001 Hematocele of Tunica Vaginalis Testis 27
1104 c CLR125 Ciliary Dyskinesia, Primary, 33 26
1105 BRT016 Bartholin's Gland Carcinoma 26
1106 c CLR042 Ciliary Dyskinesia, Primary, 6 26
1107 c TYP031 Type 1 Diabetes Mellitus 5 26
1108 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
1109 c CLR097 Ciliary Dyskinesia, Primary, 23 26
1110 c CLR134 Ciliary Dyskinesia, Primary, 3 26
1111 c CLR123 Ciliary Dyskinesia, Primary, 37 26
1112 c CLR117 Ciliary Dyskinesia, Primary, 32 25
1113 TST010 Testicular Spermatocytic Seminoma 25
1114 c CLR135 Ciliary Dyskinesia, Primary, 7 25
1115 NNG001 Non-Gestational Choriocarcinoma 25
1116 c CLR116 Ciliary Dyskinesia, Primary, 29 25
1117 c PLY141 Polycystic Kidney Disease 5 25
1118 IMM005 Immature Teratoma of Ovary 25
1119 c CLR098 Ciliary Dyskinesia, Primary, 27 25
1120 c CLR104 Ciliary Dyskinesia, Primary, 15 25
1121 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 24
1122 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1123 c CLR136 Ciliary Dyskinesia, Primary, 9 24
1124 c CLR140 Ciliary Dyskinesia, Primary, 40 24
1125 c CLR091 Ciliary Dyskinesia, Primary, 14 24
1126 c CLR099 Ciliary Dyskinesia, Primary, 16 24
1127 c CLR092 Ciliary Dyskinesia, Primary, 18 24
1128 OVR061 Ovary Sarcoma 24
1129 c CLR105 Ciliary Dyskinesia, Primary, 20 24
1130 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
1131 c SYN140 Syndrome with 46,xy Disorder of Sex Development 23
1132 c CLR059 Ciliary Dyskinesia, Primary, 13 23
1133 PRD041 Periodic Fever, Menstrual Cycle-Dependent 23
1134 c TYP036 Type 1 Diabetes Mellitus 12 23
1135 c CLR102 Ciliary Dyskinesia, Primary, 17 23
1136 BRT045 Bartholin's Gland Benign Neoplasm 23
1137 c CLR107 Ciliary Dyskinesia, Primary, 24 23
1138 c CLR106 Ciliary Dyskinesia, Primary, 26 23
1139 c CLR139 Ciliary Dyskinesia, Primary, 39 23
1140 MMM002 Mammary-Digital-Nail Syndrome 23
1141 c TYP034 Type 1 Diabetes Mellitus 8 22
1142 c CLR054 Ciliary Dyskinesia, Primary, 12 22
1143 c CLR053 Ciliary Dyskinesia, Primary, 11 22
1144 c CLR101 Ciliary Dyskinesia, Primary, 25 22
1145 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1146 c CLR056 Ciliary Dyskinesia, Primary, 10 22
1147 c CLR138 Ciliary Dyskinesia, Primary, 38 22
1148 c TYP038 Type 1 Diabetes Mellitus 15 22
1149 c CLR126 Ciliary Dyskinesia, Primary, 35 22
1150 c TYP030 Type 1 Diabetes Mellitus 4 21
1151 c TYP039 Type 1 Diabetes Mellitus 17 21
1152 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1153 c TYP040 Type 1 Diabetes Mellitus 18 21
1154 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1155 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 21
1156 VGN014 Vagina Sarcoma 20
1157 c 46X060 46,xx Disorder of Sex Development 18
1158 c TYP029 Type 1 Diabetes Mellitus 3 18
1159 MSC089 Mosaic Monosomy X 18
1160 c CLR141 Ciliary Dyskinesia, Primary, 41 18
1161 TST040 Testicular Trophoblastic Tumor 17
1162 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1163 TST005 Testicular Gonadoblastoma 16
1164 c CLR069 Ciliary Dyskinesia, Primary, 8 16
1165 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 16
1166 c CLR067 Ciliary Dyskinesia, Primary, 4 16
1167 HYD021 Hydrocephalus Obesity Hypogonadism 16
1168 FLL022 Fallopian Tube Clear Cell Adenocarcinoma 16
1169 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1170 TST041 Testicular Germ Cell Tumor Non-Seminomatous 15
1171 TST012 Testicular Fibroma 15
1172 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1173 SCR014 Scrotum Basal Cell Carcinoma 14
1174 XLN113 X-Linked Intellectual Disability, Van Esch Type 14
1175 P BNG020 Benign Prostate Phyllodes Tumor 14
1176 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 13
1177 FLL015 Fallopian Tube Serous Adenocarcinoma 12
1178 FLL011 Fallopian Tube Gestational Choriocarcinoma 12
1179 PNS008 Penis Basal Cell Carcinoma 12
1180 XLN112 X-Linked Intellectual Disability, Cilliers Type 11
1181 FLL016 Fallopian Tube Papillary Adenocarcinoma 11
1182 RRT013 Rare Uterine Cancer 10
1183 XSM001 X Small Rings 10
1184 c PLY176 Polycystic Kidney Disease 4 9
1185 TST013 Testicular Thecoma 9
1186 c ADL043 Adult Type Testicular Granulosa Cell Tumor 9
1187 c RRD012 Rare Diabetes Mellitus Type 1 9
1188 RND001 Round Ligament Malignant Neoplasm 9
1189 SLV014 Salivary Gland Type Cancer of the Breast 8
1190 EPD012 Epididymal Neoplasm 8
1191 SPR014 Spermatic Cord Cancer 8
1192 BRD006 Broad Ligament Malignant Neoplasm 8
1193 FLL007 Fallopian Tube Leiomyosarcoma 8
1194 UTR040 Uterine Ligament Adenocarcinoma 8
1195 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
1196 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 8
1197 MLG017 Malignant Tumor of Undescended Testis 8
1198 CHL042 Childhood Choriocarcinoma of the Testis 7
1199 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
1200 c RRD067 Rare Diabetes Mellitus 7
1201 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
1202 CHL048 Childhood Teratocarcinoma of the Testis 7
1203 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
1204 PDT011 Pediatric Cns Choriocarcinoma 7
1205 TST006 Testicular Monophasic Choriocarcinoma 7
1206 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1207 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 6
1208 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1209 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1210 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
1211 FLL001 Fallopian Tube Mucinous Adenocarcinoma 6
1212 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
1213 UTR012 Uterine Ligament Serous Adenocarcinoma 6
1214 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
1215 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 6
1216 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 6
1217 MLG146 Malignant Germ Cell Tumor of the Vagina 5
1218 TST042 Testicular Pure Germ Cell Tumor 5
1219 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1220 TBL005 Tubular Variant Testicular Seminoma 5
1221 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
1222 CRB003 Cribriform Variant Testicular Seminoma 5
1223 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
1224 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
1225 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
1226 PSD013 Pseudoglandular Variant Testicular Seminoma 5
1227 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
1228 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
1229 RRT003 Rare Uterine Adnexal Tumor 4
1230 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
1231 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
1232 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
1233 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 4
1234 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
1235 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
1236 RRV001 Rare Variants of Adenocarcinoma of the Corpus Uteri 4
1237 RRD028 Rare Disorder with Obstructive Azoospermia 4
1238 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 4
1239 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
1240 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 4
1241 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1242 RRN007 Rare Non-Malformative Gynecologic or Obstetric Disease 3
1243 RRV004 Rare Vaginal Malformation 3
1244 GNT003 Genital Herpes 54
1245 CYS001 Cystic Fibrosis 84
1246 END057 Endometrial Cancer 74
1247 ADR007 Adrenoleukodystrophy 72
1248 ACR007 Acromegaly 70
1249 P LPR021 Leprosy 3 67
1250 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
1251 PTT046 Pituitary Hormone Deficiency, Combined, 2 62
1252 c HYD046 Hydatidiform Mole, Recurrent, 1 62
1253 LMY014 Leiomyoma, Uterine 57
1254 c LYM145 Lymphatic Malformation 5 52
1255 ANG005 Anogenital Venereal Wart 51
1256 ADR049 Adrenal Hypoplasia, Congenital 51
1257 TST014 Testicular Cancer 49
1258 FRS002 Frasier Syndrome 49
1259 c LYM144 Lymphatic Malformation 1 47
1260 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 46
1261 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 45
1262 P ATM019 Autoimmune Polyendocrine Syndrome 45
1263 P LYM127 Lymphatic Malformations 44
1264 VLV034 Vulva Squamous Cell Carcinoma 44
1265 SCL046 Scalp-Ear-Nipple Syndrome 42
1266 ARM004 Aromatase Excess Syndrome 40
1267 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 40
1268 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 40
1269 c LYM150 Lymphatic Malformation 7 40
1270 GRD009 Gordon Holmes Syndrome 39
1271 c LPR022 Leprosy 2 37
1272 P OVR075 Ovarian Dysgenesis 1 37
1273 TST003 Testicular Leukemia 34
1274 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 34
1275 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 34
1276 MCH011 Meacham Syndrome 33
1277 BRD005 Borderline Leprosy 33
1278 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 33
1279 P TST001 Testicular Leydig Cell Tumor 32
1280 c RRL003 Rare Lymphatic Malformation 32
1281 DFN039 Deafness-Infertility Syndrome 28
1282 c OVR076 Ovarian Dysgenesis 2 28
1283 P RCR026 Recurrent Hydatidiform Mole 26
1284 c LYM149 Lymphatic Malformation 6 26
1285 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
1286 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
1287 HYP344 Hyperthyroidism, Familial Gestational 24
1288 c HYD041 Hydatidiform Mole, Recurrent, 2 24
1289 DTH005 Diethylstilbestrol Syndrome 23
1290 c LPR023 Leprosy 1 23
1291 c OVR107 Ovarian Dysgenesis 4 23
1292 c LYM147 Lymphatic Malformation 3 23
1293 48X002 48,xxxy Syndrome 23
1294 HYP683 Hypogonadism-Cataract Syndrome 23
1295 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 22
1296 c LYM148 Lymphatic Malformation 4 21
1297 c OVR119 Ovarian Dysgenesis 7 21
1298 c OVR115 Ovarian Dysgenesis 5 20
1299 c OVR102 Ovarian Dysgenesis 3 20
1300 c OVR120 Ovarian Dysgenesis 8 20
1301 c LPR017 Leprosy 5 20
1302 c OVR118 Ovarian Dysgenesis 6 18
1303 c LPR016 Leprosy 4 17
1304 c LPR020 Leprosy 6 17
1305 RRG074 Rare Gynecological Tumor 16
1306 c LYM146 Lymphatic Malformation 2 16
1307 c HYD067 Hydatidiform Mole, Recurrent, 3 15
1308 c HYD068 Hydatidiform Mole, Recurrent, 4 15
1309 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 15
1310 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 14
1311 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1312 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
1313 PRS017 Prostate Neuroendocrine Neoplasm 11
1314 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 10
1315 PDT023 Pediatric Testicular Germ Cell Tumor 10
1316 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1317 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1318 TST009 Testis Refractory Cancer 7
1319 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1320 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1321 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1322 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1323 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1324 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1325 c CWD006 Cowden Syndrome 1 76
1326 LPT014 Leptin Deficiency or Dysfunction 72
1327 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
1328 ADR054 Adrenocortical Carcinoma, Hereditary 68
1329 P CWD010 Cowden Syndrome 66
1330 P TRN020 Turner Syndrome 66
1331 HYP020 Hyperprolactinemia 62
1332 P RBL001 Rubella 56
1333 AND020 Androgen Insensitivity, Partial 56
1334 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51
1335 LPR001 Lepromatous Leprosy 50
1336 P INT099 Intrahepatic Cholestasis of Pregnancy 50
1337 GLC106 Glucocorticoid Resistance, Generalized 48
1338 MRT007 Martsolf Syndrome 45
1339 c CNG124 Congenital Rubella 44
1340 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 43
1341 OVR112 Ovarian Germ Cell Cancer 43
1342 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 42
1343 BRT059 Bartsocas-Papas Syndrome 41
1344 TST018 Testicular Yolk Sac Tumor 39
1345 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
1346 BCH003 Boucher-Neuhauser Syndrome 37
1347 c LYD012 Leydig Cell Hypoplasia, Type I 37
1348 EMB006 Embryonal Testis Carcinoma 35
1349 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 33
1350 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 29
1351 c CWD008 Cowden Syndrome 6 29
1352 P TST048 Testicular Sex Cord-Stromal Neoplasm 28
1353 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 27
1354 INT041 Intratubular Embryonal Carcinoma 26
1355 IND004 Indeterminate Leprosy 26
1356 c CWD004 Cowden Syndrome 5 26
1357 c CWD009 Cowden Syndrome 7 25
1358 DFN313 Deafness-Hypogonadism Syndrome 22
1359 c PSD047 Pseudo-Turner Syndrome 22
1360 c CWD005 Cowden Syndrome 4 21
1361 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
1362 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1363 CHL043 Childhood Embryonal Testis Carcinoma 9
1364 EMB004 Embryonal Carcinoma 57
1365 P NNN008 Noonan Syndrome 1 76
1366 P PRM011 Primary Ciliary Dyskinesia 67
1367 AND002 Androgen Insensitivity Syndrome 66
1368 DNH001 Donohue Syndrome 59
1369 ULN003 Ulnar-Mammary Syndrome 52
1370 c RBN022 Robinow Syndrome, Autosomal Recessive 1 47
1371 c NNN010 Noonan Syndrome 3 46
1372 HND004 Hand-Foot-Genital Syndrome 44
1373 c NNN013 Noonan Syndrome 6 41
1374 c NNN011 Noonan Syndrome 4 41
1375 c NNN024 Noonan Syndrome 9 38
1376 P PRR025 Perrault Syndrome 37
1377 c NNN021 Noonan Syndrome 8 37
1378 c NNN012 Noonan Syndrome 5 36
1379 c NNN025 Noonan Syndrome 10 35
1380 c NNN020 Noonan Syndrome 7 34
1381 c NNN009 Noonan Syndrome 2 34
1382 LMB008 Limb-Mammary Syndrome 34
1383 TST033 Testicular Regression Syndrome 33
1384 c PRR020 Perrault Syndrome 1 28
1385 c PRR026 Perrault Syndrome 5 27
1386 c PRR022 Perrault Syndrome 2 25
1387 c PRR024 Perrault Syndrome 3 25
1388 c PRR021 Perrault Syndrome 4 25
1389 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 20
1390 c PRR033 Perrault Syndrome 6 19
1391 c NNN029 Noonan Syndrome 11 18
1392 MNT030 Mental Retardation Syndrome, Belgian Type 15
1393 P BRD002 Bardet-Biedl Syndrome 66
1394 c BRD010 Bardet-Biedl Syndrome 1 61
1395 DNY001 Denys-Drash Syndrome 57
1396 c BRD014 Bardet-Biedl Syndrome 2 56
1397 c BRD016 Bardet-Biedl Syndrome 4 48
1398 c BRD013 Bardet-Biedl Syndrome 12 46
1399 c BRD044 Bardet-Biedl Syndrome 17 45
1400 c BRD018 Bardet-Biedl Syndrome 6 45
1401 c BRD015 Bardet-Biedl Syndrome 3 45
1402 c BRD020 Bardet-Biedl Syndrome 8 45
1403 c BRD033 Bardet-Biedl Syndrome 13 44
1404 c BRD012 Bardet-Biedl Syndrome 11 43
1405 c BRD011 Bardet-Biedl Syndrome 10 43
1406 c BRD017 Bardet-Biedl Syndrome 5 42
1407 PRL023 Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome 42
1408 c BRD032 Bardet-Biedl Syndrome 14 42
1409 c BRD048 Bardet-Biedl Syndrome 18 40
1410 c BRD035 Bardet-Biedl Syndrome 15 39
1411 c BRD047 Bardet-Biedl Syndrome 16 37
1412 c BRD019 Bardet-Biedl Syndrome 7 37
1413 c BRD045 Bardet-Biedl Syndrome 19 33
1414 c BRD021 Bardet-Biedl Syndrome 9 32
1415 c BRD050 Bardet-Biedl Syndrome 21 27
1416 c BRD051 Bardet-Biedl Syndrome 20 23
1417 P PRD006 Prader-Willi Syndrome 60
1418 LRN001 Laurence-Moon Syndrome 49
1419 STY001 Satoyoshi Syndrome 29
1420 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65
1421 P CMP005 Campomelic Dysplasia 64
1422 GLC006 Galactosemia 63
1423 ARM001 Aromatase Deficiency 55
1424 c CMP100 Campomelic Dysplasia and Related Disorders 13
1425 P TRC102 Trichothiodystrophy 1, Photosensitive 64
1426 c TRC100 Trichothiodystrophy 3, Photosensitive 26
1427 c TRC099 Trichothiodystrophy 2, Photosensitive 20
1428 CHR103 Charge Syndrome 62



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