Reproductive Diseases Category (1427 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 CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39
3 P LSS036 Lissencephaly, X-Linked, 1 44
4 c LSS037 Lissencephaly, X-Linked, 2 36
5 HYP856 Hypothyroidism, Central, with Testicular Enlargement 39
6 XLN107 X-Linked Lissencephaly with Abnormal Genitalia 27
7 TST043 Testicular Seminoma 35
8 NNR008 Non-Recovering Obstetric Brachial Plexus Lesion 7
9 TST035 Testicular Anomalies with or Without Congenital Heart Disease 20
10 c TST046 Testicular Germ Cell Tumor 1 29
11 VGN024 Vagina, Absence of 13
12 GLY100 Glycerol Kinase 2 12
13 NNS035 Nonsyndromic 46,xx Testicular Disorders of Sex Development 11
14 GLY101 Glycerol Kinase 3 Pseudogene 7
15 BRN052 Brenner Tumor of the Vagina 4
16 GNT136 Genetic Disorder of Sex Development of Gynecological Interest 3
17 NNR023 Non-Rare Gynecologic and Obstetric Disease 3
18 RRG007 Rare Genetic Gynecological and Obstetrical Diseases 3
19 P PLV020 Pelvic Organ Prolapse 59
20 LST001 Listeriosis 54
21 TRC003 Trichomoniasis 52
22 TST025 Testicular Microlithiasis 30
23 YCH001 Y Chromosome Infertility 29
24 SCR025 Scarf Syndrome 25
25 MTH082 Methemoglobinemia and Ambiguous Genitalia 22
26 c PLV014 Pelvic Organ Prolapse 2 12
27 MCH007 Meacham Winn Culler Syndrome 8
28 VRC001 Varicocele 49
29 HYP784 Hypogonadism, Male 39
30 ZKF001 Zika Fever 41
31 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 34
32 PRP011 Puerperal Pulmonary Embolism 24
33 NNS042 Nonsyndromic Disorders of Testicular Development 22
34 c 46X011 46, Xy Disorders of Sexual Development 20
35 MYT025 Myotubular Myopathy with Abnormal Genital Development 17
36 FCT031 Faciothoracogenital Syndrome 12
37 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 11
38 ENL011 Enolase, Sperm Specific 11
39 SPR122 Sperm-Specific Antigen 1 10
40 TMR023 Tumor of Testis and Paratestis 9
41 P OBS777 Obsolete: Male Infertility with Impaired Virilization 8
42 SHV002 Sohval Soffer Syndrome 8
43 P OBS768 Obsolete: Male Infertility with Normal Virilization 7
44 SPR117 Sperm Protamine P4 6
45 c OBS792 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder 6
46 c OBS790 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect 6
47 c OBS761 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect 5
48 c OBS772 Obsolete: Male Infertility with Normal Virilization Due to a Developmental or Structural Testicular Defect 4
49 c OBS776 Obsolete: Male Infertility with Impaired Virilization Due to an Hypothalamic or Pituitary Disorder 4
50 c OBS791 Obsolete: Male Infertility with Impaired Virilization Due to a Hypothalamic and Pituitary Disorder Associated with Hyperprolactinemia 4
51 c OBS769 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Neurologic Disease 3
52 c OBS771 Obsolete: Male Infertility with Normal Virilization Due to a Hypothalamic or Pituitary Defect 3
53 c OBS782 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Systemic Disease 3
54 c OBS783 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Renal Failure 3
55 c OBS784 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Autoimmunity 3
56 c OBS785 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with a Granulomatous Disease 3
57 c OBS786 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with Thyrotoxicosis 3
58 c OBS787 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with an Immune Disorder 3
59 c OBS788 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Hepatic Disease 3
60 c OBS789 Obsolete: Male Infertility with Impaired Virilization Due to a Testicular Disorder Associated with a Chronic Illness 3
61 c OBS793 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Drug-Related 3
62 c OBS794 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with an Environmental Toxin 3
63 c OBS795 Obsolete: Male Infertility with Impaired Virilization Due to a Viral Orchitis 3
64 c OBS796 Obsolete: Male Infertility with Impaired Virilization Due to an Acquired Testicular Defect Associated with Trauma 3
65 c OBS760 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Mycoplasma Infection 3
66 c OBS762 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Drug 3
67 c OBS763 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Radiation 3
68 c OBS764 Obsolete: Male Infertility with Normal Virilization Due to Acquired Testicular Defect Associated with Autoimmunity 3
69 c OBS765 Obsolete: Male Infertility with Normal Virilization Due to an Acquired Testicular Defect Associated with Environmental Toxin 3
70 c OBS767 Obsolete: Male Infertility with Normal Virilization Due to a Systemic Disease 3
71 c OBS770 Obsolete: Male Infertility with Normal Virilization Due to Androgen Administration 3
72 c OBS773 Obsolete: Male Infertility with Normal Virilization Due to a Testicular Defect 3
73 c OBS774 Obsolete: Male Infertility with Normal Virilization Due to a Developmental or Structural Testicular Defect Associated with Varicocele 3
74 c OBS775 Obsolete: Male Infertility with Normal Virilization Due to a Developmental or Structural Testicular Defect Associated with Cryptorchidism 3
75 GNT056 Genetic Gynecological Tumor 2
76 OBS844 Obsolete: Metastatic Spermatocytic Seminoma 2
77 P BRS047 Breast Cancer 96
78 P OVR042 Ovarian Cancer 89
79 ADR007 Adrenoleukodystrophy 74
80 P KLL001 Kallmann Syndrome 64
81 c PRC016 Pre-Eclampsia 63
82 P END044 Endometriosis 62
83 CHL123 Chlamydia 59
84 BRS051 Breast Disease 58
85 ADN027 Adenomyosis 57
86 PRS047 Prostatitis 56
87 PLV003 Pelvic Inflammatory Disease 55
88 AMN001 Amenorrhea 54
89 P OVR049 Ovarian Disease 53
90 PRS045 Prostatic Hypertrophy 52
91 PRS021 Prostatic Adenoma 51
92 P ECL001 Eclampsia 51
93 c PYR010 Peyronie's Disease 50
94 LPR001 Lepromatous Leprosy 50
95 P GND004 Gonadal Dysgenesis 49
96 P UTR058 Uterine Anomalies 48
97 P END046 Endometritis 47
98 VLV036 Vulvar Disease 46
99 P ATM019 Autoimmune Polyendocrine Syndrome 46
100 P CRV039 Cervicitis 45
101 END080 Endometrial Disease 45
102 P OCY003 Oocyte Maturation Defect 1 45
103 P SXD002 Sex Development Disorder 45
104 OLG001 Oligospermia 45
105 SMN007 Seminoma 44
106 VGN019 Vaginal Discharge 44
107 CRR002 Currarino Syndrome 44
108 GND001 Gonadoblastoma 43
109 TRP009 Triple X Syndrome 42
110 PRM013 Premature Menopause 42
111 VLV010 Vulvovaginitis 41
112 EST004 Estrogen Excess 40
113 END011 Endometriosis of Ovary 40
114 c NNN012 Noonan Syndrome 5 39
115 END007 Endosalpingiosis 39
116 WDH003 Woodhouse-Sakati Syndrome 39
117 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 39
118 PRM020 Premenstrual Tension 39
119 P STR021 Struma Ovarii 39
120 PST029 Postmenopausal Atrophic Vaginitis 38
121 FML039 Female Reproductive System Disease 38
122 c BRD045 Bardet-Biedl Syndrome 19 38
123 UTR042 Uterus Leiomyosarcoma 38
124 c BRD017 Bardet-Biedl Syndrome 5 37
125 P SLP003 Salpingitis 37
126 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 37
127 PHM001 Phimosis 37
128 CRV069 Cervix Disease 37
129 c NNN020 Noonan Syndrome 7 37
130 BLN010 Balanitis 36
131 P PYR039 Peyronie Disease 36
132 HRM002 Hermaphroditism 36
133 RPR002 Reproductive System Disease 36
134 OLG022 Oligoasthenoteratozoospermia 36
135 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
136 MLR007 Male Reproductive System Disease 36
137 OVR051 Ovarian Endodermal Sinus Tumor 35
138 LTM002 Luteoma 35
139 PNL013 Penile Disease 34
140 CRV025 Cervical Incompetence 33
141 ADH001 Adhesions of Uterus 33
142 c NNN025 Noonan Syndrome 10 33
143 PST103 Postpartum Psychosis 33
144 EPD018 Epididymo-Orchitis 32
145 VLV008 Vulvitis 31
146 BLN009 Balanoposthitis 31
147 DRM005 Dermoid Cyst of Ovary 31
148 PRP013 Paraphimosis 30
149 P OVR045 Ovarian Clear Cell Adenofibroma 30
150 BLN002 Balanitis Xerotica Obliterans 30
151 PRM008 Parametritis 30
152 OVR009 Ovarian Gonadoblastoma 30
153 OVR097 Ovarian Fibrothecoma 29
154 UTR020 Uterine Inversion 29
155 FBR016 Fibrosclerosis of Breast 28
156 TYL001 Taylor's Syndrome 28
157 c CHR085 Chronic Cervicitis 28
158 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
159 c PRM254 Premature Ovarian Failure 11 27
160 PLY004 Polyp of Corpus Uteri 27
161 PRL004 Prolapse of Urethra 27
162 CYS015 Cystadenofibroma 27
163 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
164 INF025 Infected Hydrocele 26
165 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 26
166 CRV068 Cervical Polyp 26
167 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26
168 c PRR021 Perrault Syndrome 4 26
169 INH002 Inhibited Male Orgasm 26
170 PRT086 Partial Hydatidiform Mole 26
171 INH003 Inhibited Female Orgasm 26
172 UTR029 Uterus Perivascular Epithelioid Cell Tumor 26
173 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
174 SLP002 Salpingitis Isthmica Nodosa 26
175 c 46X030 46,xy Sex Reversal 9 26
176 c ACT069 Acute Endometritis 26
177 c CHR018 Chronic Salpingo-Oophoritis 25
178 RTV004 Rete Ovarii Adenoma 25
179 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 25
180 48X002 48,xxxy Syndrome 25
181 OVR098 Ovarian Fibroma 25
182 CRV010 Cervix Erosion 24
183 PRD041 Periodic Fever, Menstrual Cycle-Dependent 24
184 GRN001 Granulomatous Endometritis 24
185 PYS001 Pyosalpinx 24
186 c 46X047 46,xy Sex Reversal 7 24
187 c END071 Endometriosis 1 23
188 PRS005 Prostate Angiosarcoma 23
189 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 23
190 FTN001 Fat Necrosis of Breast 23
191 GYN003 Gynandroblastoma 23
192 c ACT066 Acute Cervicitis 23
193 END016 Endocervicitis 23
194 MMM002 Mammary-Digital-Nail Syndrome 23
195 PDT003 Pediatric Ovarian Dysgerminoma 23
196 VLV015 Vulvar Dystrophy 22
197 c PRM090 Premature Ovarian Failure 6 22
198 ACT048 Acute Gonococcal Cervicitis 22
199 MCN010 Mucinous Cystadenofibroma 22
200 c 46X059 46,xx Sex Reversal 4 22
201 MTR011 Mature Teratoma of the Ovary 22
202 c CHR099 Chronic Salpingitis 22
203 CRV006 Cervix Endometriosis 22
204 c ACT081 Acute Salpingitis 22
205 c NNN034 Noonan Syndrome 12 22
206 c MLG033 Malignant Ovarian Cyst 22
207 GRN002 Granulomatous Orchitis 21
208 VGN010 Vaginal Tubulovillous Adenoma 21
209 VLV026 Vulvar Leiomyosarcoma 21
210 NDL006 Nodular Prostate 20
211 PRS014 Prostatic Cyst 20
212 PRS007 Prostate Calculus 20
213 c MLG022 Malignant Sertoli Cell Tumor 20
214 ATR007 Atrophic Vulva 20
215 PRS032 Prostate Leiomyosarcoma 20
216 ACT057 Acute Gonococcal Endometritis 20
217 c CHR017 Chronic Gonococcal Salpingitis 20
218 MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 20
219 VLV018 Vulvar Angiokeratoma 20
220 MYX002 Myxoid Liposarcoma of the Ovary 20
221 c ACT031 Acute Salpingo-Oophoritis 19
222 GYN002 Gynatresia 19
223 VLV046 Vulvovaginal Gingival Syndrome 19
224 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 19
225 c OCY002 Oocyte Maturation Defect 2 19
226 c OCY005 Oocyte Maturation Defect 4 19
227 DST037 Distal Monosomy 9p 19
228 EPD088 Epididymis Disease 19
229 ATR008 Atrophy of Prostate 18
230 PYM002 Pyometritis 18
231 c PRM255 Premature Ovarian Failure 12 18
232 LKP001 Leukoplakia of Penis 18
233 c OCY007 Oocyte Maturation Defect 6 18
234 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
235 c OCY006 Oocyte Maturation Defect 5 17
236 c UTR006 Uterine Inflammatory Disease 17
237 c OCY004 Oocyte Maturation Defect 3 17
238 BRD046 Borderline Epithelial Tumor of Ovary 17
239 c PRM344 Premature Ovarian Failure 16 15
240 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
241 c OCY008 Oocyte Maturation Defect 7 15
242 c 46X050 46,xx Sex Reversal 3 15
243 DRT001 Dartoic Leiomyoma 15
244 c FML266 Female Infertility Due to Zona Pellucida Defect 14
245 PSD091 Pseudounicornuate Uterus 14
246 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
247 CRN307 Craniofrontonasal Dysplasia-Poland Anomaly Syndrome 14
248 c KLL008 Kallmann Syndrome 6 13
249 ULC001 Ulceration of Vulva 12
250 c INF020 Infertility Due to Extratesticular Cause 12
251 RHB019 Rhabdomyosarcoma of the Cervix Uteri 12
252 HYM002 Hymen, Imperforate 12
253 TRN045 True Unicornuate Uterus 12
254 ACT024 Acute Gonococcal Prostatitis 12
255 ATY026 Atypical Meigs Syndrome 12
256 c KLL005 Kallmann Syndrome 3 11
257 P ACT023 Acute Gonococcal Salpingitis 11
258 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 11
259 PRL015 Prolapse of Female Genital Organ 10
260 CRV023 Cervical Adenofibroma 10
261 MLG166 Malignant Sex Cord Stromal Tumor of Ovary 10
262 PLV002 Pelvic Muscle Wasting 10
263 MDL004 Midline Cystocele 10
264 PRS020 Prostatocystitis 10
265 c SCN039 Secondary Central Precocious Puberty 10
266 UTR010 Uterine Cervix Leukoplakia 9
267 TST011 Testis Rhabdomyosarcoma 9
268 OVR008 Ovarian Mucinous Cystadenofibroma 9
269 PRN004 Perineocele 9
270 VLV012 Vulvar Granular Cell Tumor 9
271 UTR028 Uterine Corpus Adenosarcoma 9
272 CRV018 Cervix Squamous Papilloma 8
273 LTR006 Lateral Cystocele 8
274 PNS004 Penis Paget's Disease 8
275 PRC053 Precocious Puberty in Female 8
276 SLT004 Solitary Cyst of Breast 8
277 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 8
278 FML002 Female Infertility of Uterine Origin 7
279 VGN008 Vaginal Spindle Cell Epithelioma 7
280 END009 Endometriosis of Pelvic Peritoneum 7
281 ACT039 Acute Gonococcal Epididymo-Orchitis 7
282 UTR034 Uterine Corpus Cellular Leiomyoma 7
283 VLV045 Vulvovaginal Rhabdomyosarcoma 7
284 VGN003 Vaginal Mullerian Papilloma 7
285 OVR019 Ovarian Malignant Mesothelioma 7
286 MCR007 Micropapillomatosis Labialis 7
287 TST008 Testis Polyembryoma 7
288 UTR019 Uterine Corpus Lipoleiomyoma 6
289 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
290 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 6
291 CHR030 Chronic Gonorrhea of Cervix 6
292 CRV017 Cervical Mullerian Papilloma 6
293 ISL100 Isolated Congenital Breast Hypoplasia/aplasia 6
294 CYS049 Cystadenoma of Childhood 6
295 CHL036 Childhood Mature Teratoma of the Ovary 6
296 CHL063 Childhood Teratoma of the Ovary 6
297 CHL011 Childhood Immature Teratoma of Ovary 6
298 OVR036 Ovarian Endometrioid Cystadenofibroma 6
299 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 6
300 MLG025 Male Genital Organ Stricture 5
301 VLV022 Vulvar Trichoepithelioma 5
302 VGN007 Vaginal Villous Adenoma 5
303 UTR007 Uterine Corpus Apoplectic Leiomyoma 5
304 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
305 OVR007 Ovarian Endometrioid Cystadenoma 5
306 UTR017 Uterine Corpus Dissecting Leiomyoma 5
307 VLV017 Vulvar Nodular Hidradenoma 5
308 NNS001 Non Specific Chronic Endometritis 5
309 VGN009 Vaginal Tubular Adenoma 5
310 RTV003 Rete Ovarii Cystadenofibroma 5
311 BCR005 Bicervical Bicornuate Uterus and Blind Hemivagina 5
312 ABS021 Absence of Uterine Body 5
313 HYP033 Hypertrophic Elongation of Cervix 5
314 ACT054 Acute Female Pelvic Peritonitis 5
315 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
316 CHR032 Chronic Subinvolution of Uterus 4
317 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
318 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
319 VGN006 Vaginal Endometrial Stromal Tumor 4
320 c FRG006 Fragile X Syndrome Type 3 4
321 SRM003 Seromucinous Cystadenoma of Childhood 4
322 TMX001 Tamoxifen-Related Endometrial Lesion 3
323 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
324 SYN100 Syndromic Uterovaginal Malformation 3
325 DFC007 Deficient Breast Volume or Number 3
326 ADN059 Adenosarcoma of the Corpus Uteri 3
327 P MCR256 Microphthalmia, Syndromic 9 61
328 c MCR261 Microphthalmia, Syndromic 2 45
329 c MCR241 Microphthalmia, Syndromic 3 42
330 c MCR263 Microphthalmia, Syndromic 1 41
331 c MCR312 Microphthalmia, Syndromic 10 34
332 c MCR245 Microphthalmia, Syndromic 8 34
333 c MCR251 Microphthalmia, Syndromic 6 33
334 c MCR252 Microphthalmia, Syndromic 5 32
335 c MCR212 Microphthalmia, Syndromic 12 27
336 c MCR262 Microphthalmia, Syndromic 4 25
337 c MCR228 Microphthalmia, Syndromic 13 23
338 c MCR217 Microphthalmia, Syndromic 11 21
339 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 23
340 MRB006 Morbid Obesity and Spermatogenic Failure 21
341 P RBN002 Robinow Syndrome 49
342 c RBN017 Robinow Syndrome, Autosomal Dominant 2 45
343 c ATS082 Autosomal Dominant Robinow Syndrome 41
344 c RBN020 Robinow Syndrome, Autosomal Dominant 3 35
345 c RBN023 Robinow Syndrome, Autosomal Recessive 2 24
346 c RR2001 Ror2-Related Robinow Syndrome 14
347 PGM001 Pigmented Villonodular Synovitis 56
348 c RBN018 Robinow Syndrome, Autosomal Dominant 1 48
349 EXS017 Exstrophy of Bladder 46
350 RSS021 Resistance to Bleomycine in the Treatment of Testicular Cancer 3
351 RRG035 Rare Genetic Disorder with Obstructive Azoospermia 3
352 c OBS766 Obsolete: Male Infertility with Normal Virilization Due to Testicular Defect Associated with Spinal Cord Injury 3
353 P PRS040 Prostate Cancer 97
354 c MYT021 Myotonic Dystrophy 1 66
355 P TRN020 Turner Syndrome 65
356 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 64
357 OVR029 Ovarian Hyperstimulation Syndrome 63
358 c ATS347 Autosomal Dominant Polycystic Kidney Disease 59
359 SPP011 Suppression of Tumorigenicity 12 59
360 P BRS044 Breast Adenocarcinoma 59
361 CRV038 Cervical Squamous Cell Carcinoma 58
362 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 58
363 P INF032 Infertility 57
364 GST033 Gestational Diabetes 57
365 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
366 VGN023 Vaginitis 55
367 END002 Endometrioid Ovary Carcinoma 55
368 PRT082 Preterm Premature Rupture of the Membranes 54
369 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 54
370 HLL004 Hellp Syndrome 53
371 MMM001 Mammary Paget's Disease 53
372 MST005 Mastitis 53
373 BCT002 Bacterial Vaginosis 52
374 P OVR106 Ovarian Clear Cell Carcinoma 51
375 OVR059 Ovary Adenocarcinoma 51
376 VLV011 Vulvovaginal Candidiasis 51
377 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
378 AZS001 Azoospermia 50
379 VGN020 Vaginal Disease 50
380 c SVR005 Severe Pre-Eclampsia 49
381 ECT026 Ectopic Pregnancy 49
382 END062 Endometrial Hyperplasia 48
383 PLC003 Placental Site Trophoblastic Tumor 48
384 ANV001 Anovulation 47
385 P CRV031 Cervical Adenocarcinoma 47
386 TST044 Testicular Torsion 47
387 CMP034 Complete Androgen Insensitivity Syndrome 47
388 BRS056 Breast Metaplastic Carcinoma 47
389 PGT003 Paget Disease, Extramammary 46
390 PSD009 Pseudohermaphroditism 46
391 HYD005 Hydrocele 46
392 PLN006 Poland Syndrome 46
393 PLR023 Polr3-Related Leukodystrophy 46
394 ORC001 Orchitis 45
395 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 45
396 UTR033 Uterine Corpus Cancer 44
397 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 44
398 FML005 Female Reproductive Endometrioid Cancer 44
399 c CRV002 Cervix Uteri Carcinoma in Situ 44
400 VLV044 Vulvar Intraepithelial Neoplasia 44
401 P SPR086 Spermatogenic Failure 3 44
402 P HYP078 Hypertrophy of Breast 43
403 c 46X001 46 Xy Gonadal Dysgenesis 43
404 SCH071 Schaaf-Yang Syndrome 43
405 OVR112 Ovarian Germ Cell Cancer 43
406 UTR011 Uterine Corpus Serous Adenocarcinoma 42
407 ADN020 Adenosarcoma 41
408 MLR006 Male Reproductive Organ Cancer 40
409 P SPR119 Spermatogenic Failure, X-Linked, 1 40
410 LGN005 Ligneous Conjunctivitis 40
411 OVR044 Ovarian Carcinosarcoma 38
412 VLV020 Vulvar Melanoma 37
413 FLL029 Fallopian Tube Disease 36
414 UTR037 Uterine Corpus Sarcoma 36
415 PLC006 Placental Choriocarcinoma 36
416 CRV013 Cervical Adenoid Cystic Carcinoma 36
417 END075 Endocervical Adenocarcinoma 36
418 CHR075 Choriocarcinoma of Ovary 36
419 WLF006 Wolffian Duct Adenocarcinoma 34
420 SPR017 Spermatocele 34
421 47X003 47, Xxy 34
422 OVR054 Ovarian Mucinous Neoplasm 34
423 c CLR042 Ciliary Dyskinesia, Primary, 6 33
424 OVR060 Ovary Epithelial Cancer 33
425 UTR032 Uterine Body Mixed Cancer 33
426 c PRS136 Prostate Cancer, Hereditary, 6 33
427 CYT014 Cytochrome P450 Oxidoreductase Deficiency 33
428 c PRS130 Prostate Cancer, Hereditary, 8 32
429 EXT025 Extragonadal Germ Cell Cancer 32
430 END029 Endocervical Carcinoma 32
431 END025 Endometrial Squamous Cell Carcinoma 32
432 ASH001 Asherman's Syndrome 32
433 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 32
434 c CLR095 Ciliary Dyskinesia, Primary, 19 32
435 TBR003 Tuberculous Epididymitis 31
436 CLR137 Clear Cell Adenocarcinoma of the Ovary 31
437 OVR015 Ovarian Mixed Germ Cell Neoplasm 31
438 OVR062 Ovary Serous Adenocarcinoma 31
439 PRS010 Prostate Embryonal Rhabdomyosarcoma 31
440 OVR041 Ovarian Benign Neoplasm 31
441 END013 Endometrial Small Cell Carcinoma 31
442 MCR379 Microcystic Stromal Tumor 31
443 OVR013 Ovarian Mucinous Cystadenocarcinoma 30
444 CRV033 Cervical Adenosquamous Carcinoma 30
445 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 30
446 SBM005 Submucous Uterine Fibroid 30
447 c SPR118 Spermatogenic Failure 1 30
448 SCR013 Scrotum Squamous Cell Carcinoma 30
449 PRS002 Prostate Lymphoma 30
450 EPD014 Epididymis Adenocarcinoma 30
451 TBR002 Tuberculous Salpingitis 30
452 PRS004 Prostate Squamous Cell Carcinoma 30
453 OVR103 Ovarian Endometrial Cancer 30
454 END018 Endometrium Carcinoma in Situ 30
455 GRN033 Granulomatous Mastitis 29
456 RPR001 Reproductive Organ Benign Neoplasm 29
457 BRD005 Borderline Leprosy 29
458 c BRD050 Bardet-Biedl Syndrome 21 28
459 PRS009 Prostate Stromal Sarcoma 28
460 HMM001 Hemometra 28
461 c SPR092 Spermatogenic Failure, Y-Linked, 1 28
462 c OVR076 Ovarian Dysgenesis 2 28
463 CRV028 Cervical Adenosarcoma 28
464 PRS008 Prostate Small Cell Carcinoma 28
465 VLV021 Vulval Paget's Disease 28
466 UTR030 Uterine Adnexa Cancer 28
467 LKR001 Leukorrhea 28
468 OVR027 Ovarian Squamous Cell Carcinoma 28
469 PRS043 Prostate Rhabdomyosarcoma 27
470 VLV039 Vulvar Seborrheic Keratosis 27
471 OVR002 Ovarian Serous Cystadenofibroma 27
472 PRS006 Prostatic Acinar Adenocarcinoma 27
473 VLV009 Vulvar Leiomyoma 27
474 CRP004 Corpus Luteum Cyst 27
475 CHR010 Chorioangioma 27
476 OVR040 Ovarian Clear Cell Cystadenocarcinoma 27
477 RTV005 Rete Ovarii Neoplasm 27
478 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 27
479 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 26
480 VGN011 Vagina Leiomyosarcoma 26
481 OVR001 Ovarian Stromal Hyperthecosis 26
482 VLV019 Vulvar Syringoma 26
483 OVR017 Ovarian Cystic Teratoma 26
484 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
485 PGD001 Pagod Syndrome 26
486 VLV038 Vulvar Sarcoma 26
487 PRS044 Prostate Sarcoma 26
488 BRT012 Bartholin's Gland Adenoma 25
489 c CLR094 Ciliary Dyskinesia, Primary, 28 25
490 INV018 Invasive Mole 25
491 MLG154 Malignant Sertoli-Leydig Cell Tumor of the Ovary 25
492 BNG025 Benign Mammary Dysplasia 25
493 c CLR092 Ciliary Dyskinesia, Primary, 18 25
494 WLF003 Wolffian Duct Adenoma 25
495 RTT003 Rete Testis Adenoma 25
496 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
497 EPD012 Epididymal Neoplasm 25
498 P SLP004 Salpingo-Oophoritis 24
499 END003 Endometrial Stromal Nodule 24
500 MCR015 Microinvasive Cervical Squamous Cell Carcinoma 24
501 c CLR140 Ciliary Dyskinesia, Primary, 40 24
502 BRT014 Bartholin's Duct Cyst 24
503 OVR026 Ovary Transitional Cell Carcinoma 24
504 BCR002 Bicornuate Uterus 24
505 PRS019 Prostate Adenoid Cystic Carcinoma 24
506 MLR005 Male Reproductive Organ Benign Neoplasm 24
507 c HYD041 Hydatidiform Mole, Recurrent, 2 24
508 OVR020 Ovarian Wilms' Cancer 24
509 SPN365 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 23
510 GST035 Gestational Ovarian Choriocarcinoma 23
511 PRT028 Paratesticular Lipoma 23
512 c CLR139 Ciliary Dyskinesia, Primary, 39 23
513 c PRM192 Premature Ovarian Failure 8 23
514 OVR003 Ovarian Angiosarcoma 23
515 PRS027 Prostate Transitional Cell Carcinoma 23
516 c CLR102 Ciliary Dyskinesia, Primary, 17 23
517 PRS022 Prostate Leiomyoma 23
518 c 46X058 46,xy Sex Reversal 10 23
519 HYP344 Hyperthyroidism, Familial Gestational 23
520 P VGN018 Vaginal Carcinosarcoma 22
521 VGN005 Vaginal Endometrial Stromal Sarcoma 22
522 VLV035 Vulvar Benign Neoplasm 22
523 c PRS135 Prostate Cancer, Hereditary, 4 22
524 OVR056 Ovarian Primitive Germ Cell Tumor 22
525 END015 Endometrial Adenosquamous Carcinoma 22
526 c TRC099 Trichothiodystrophy 2, Photosensitive 22
527 OVR104 Ovarian Melanoma 22
528 VGN012 Vaginal Adenosarcoma 22
529 EXC001 Exocervical Carcinoma 22
530 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 22
531 PDT022 Pediatric Ovarian Germ Cell Tumor 21
532 FML019 Familiar Ovarian Carcinoma 21
533 c PRM253 Premature Ovarian Failure 13 21
534 HRD114 Hereditary Site-Specific Ovarian Cancer Syndrome 21
535 UTR009 Uterus Carcinoma in Situ 21
536 OVR061 Ovary Sarcoma 21
537 FLL006 Fallopian Tube Endometriosis 20
538 VLV031 Vulva Adenocarcinoma 20
539 END001 Endometrial Mucinous Adenocarcinoma 20
540 ATR009 Atrophy of Testis 20
541 c SPR143 Spermatogenic Failure 38 20
542 PSD084 Pseudo-Meigs Syndrome 20
543 VGN015 Vaginal Adenoma 20
544 PRV001 Parovarian Cyst 20
545 UTR056 Uterine Corpus Endometrial Carcinoma 20
546 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
547 c SPR128 Spermatogenic Failure 25 20
548 ADN007 Adenosquamous Prostate Carcinoma 20
549 c HYP678 Hypertrophy of the Breast, Juvenile 20
550 EXT063 Extrapelvic Endometriosis 20
551 c SPR136 Spermatogenic Failure 33 19
552 c SPR137 Spermatogenic Failure 34 19
553 c SPR127 Spermatogenic Failure 24 19
554 c SPR134 Spermatogenic Failure 31 19
555 c CLR141 Ciliary Dyskinesia, Primary, 41 19
556 c SPR141 Spermatogenic Failure 36 19
557 SPR064 Supernumerary Breasts 18
558 END024 Endometrial Transitional Cell Carcinoma 18
559 c SPR142 Spermatogenic Failure 37 18
560 c CLR142 Ciliary Dyskinesia, Primary, 42 18
561 c SPR140 Spermatogenic Failure 35 18
562 c SPR125 Spermatogenic Failure 23 18
563 c SPR130 Spermatogenic Failure 27 18
564 UNL015 Unilateral Aplasia of the Mullerian Ducts 18
565 c HYD067 Hydatidiform Mole, Recurrent, 3 18
566 VGN016 Vaginal Benign Neoplasm 17
567 SCR005 Scrotum Paget's Disease 17
568 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17
569 MLG118 Malignancy Diagnosed During Pregnancy 17
570 FLL010 Fallopian Tube Leiomyoma 17
571 PRM194 Primary Peritoneal Serous/papillary Carcinoma 17
572 c SPR124 Spermatogenic Failure 22 17
573 c SPR152 Spermatogenic Failure 42 17
574 SBS001 Subserous Uterine Fibroid 16
575 c SPR132 Spermatogenic Failure 29 16
576 CRV029 Cervical Keratinizing Squamous Cell Carcinoma 16
577 SMN002 Seminal Vesicle Cystadenoma 16
578 c SPR149 Spermatogenic Failure 39 16
579 CRV032 Cervical Adenomyoma 16
580 OVR033 Ovary Papillary Carcinoma 16
581 c SPR129 Spermatogenic Failure 26 16
582 HYP689 Hypomelia with Mullerian Duct Anomalies 16
583 MLN056 Male Infertility with Teratozoospermia Due to Single Gene Mutation 16
584 CRV008 Cervical Basaloid Squamous Cell Carcinoma 16
585 6Q1002 6q16 Microdeletion Syndrome 16
586 DDL001 Didelphys Uterus 16
587 BRT060 Bartholin's Gland Disease 16
588 c PRS003 Prostate Malignant Phyllodes Tumor 15
589 ADN061 Adenosarcoma of the Cervix Uteri 15
590 OVR016 Ovarian Endometrioid Stromal Sarcoma 15
591 TRN046 Transverse Vaginal Septum 15
592 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
593 CRV024 Cervical Adenoid Basal Carcinoma 14
594 c MYC055 Mycobacterium Tuberculosis 3 14
595 c PRS079 Prostate Cancer, Hereditary, 5 14
596 P BNG020 Benign Prostate Phyllodes Tumor 14
597 c HYP545 Hypospadias 3, Autosomal 14
598 c MYC054 Mycobacterium Tuberculosis 2 13
599 VGN004 Vaginal Yolk Sac Tumor 13
600 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 13
601 PNS008 Penis Basal Cell Carcinoma 13
602 c SPR151 Spermatogenic Failure 41 13
603 SQM012 Squamous Cell Carcinoma of the Corpus Uteri 12
604 P CRV009 Cervix Melanoma 12
605 c PRM047 Primary Malignant Melanoma of the Cervix 12
606 MST003 Masters-Allen Syndrome 12
607 OVR055 Ovarian Papillary Neoplasm 11
608 CRV020 Cervical Non-Keratinizing Squamous Cell Carcinoma 11
609 VLV005 Vulvar Liposarcoma 11
610 LMY012 Leiomyosarcoma of the Cervix Uteri 11
611 LKP002 Leukoplakia of Vagina 11
612 CRV012 Cervical Verrucous Carcinoma 10
613 VLV001 Vulvar Keratinizing Squamous Cell Carcinoma 10
614 PRT111 Partial Septate Uterus 10
615 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 10
616 CRD171 Cordiform Uterus 10
617 EPD013 Epididymis Adenomatoid Tumor 10
618 FLL024 Fallopian Tube Adenofibroma 9
619 CRV016 Cervical Wilms' Tumor 9
620 P OVR053 Ovarian Mucinous Adenofibroma 9
621 VLV014 Vulva Fibroepithelial Polyp 9
622 RHB018 Rhabdomyosarcoma of the Corpus Uteri 9
623 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 8
624 UTR016 Uterus Interstitial Leiomyoma 8
625 END008 Endometriosis of Intestine 8
626 CRV034 Cervical Benign Neoplasm 8
627 GNC009 Gonococcal Seminal Vesiculitis 8
628 VLV006 Vulva Verrucous Carcinoma 8
629 VLV004 Vulvar Sebaceous Carcinoma 8
630 FLL018 Fallopian Tube Teratoma 8
631 PNS011 Penis Verrucous Carcinoma 8
632 VLV027 Vulvar Keratoacanthoma-Like Carcinoma 8
633 UTR036 Uterine Corpus Leiomyomatosis 8
634 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
635 SCR012 Scrotum Melanoma 7
636 UTR026 Uterine Corpus Endometrial Stromal Sarcoma 7
637 UTR004 Uterus Intravascular Leiomyomatosis 7
638 CHL038 Childhood Choriocarcinoma of the Ovary 7
639 FLL004 Fallopian Tube Serous Papilloma 7
640 END010 Endometriosis of Rectovaginal Septum and Vagina 7
641 VLV040 Vulvar Squamous Papilloma 7
642 TST002 Testicular Brenner Tumor 7
643 UTR035 Uterine Corpus Choriocarcinoma 7
644 UNC003 Unicervical Bicornuate Uterus 7
645 RRB001 Rare Benign Ovarian Tumor 7
646 MNR001 Minor Vestibular Glands Adenoma 7
647 VLV007 Vulvar Inverted Follicular Keratosis 6
648 UTR059 Uterovaginal Malformation 6
649 UTR018 Uterine Corpus Bizarre Leiomyoma 6
650 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
651 END023 Endocervical Type Cervical Adenomyoma 6
652 MLG162 Malignant Mixed Epithelial and Mesenchymal Tumor of Cervix Uteri 6
653 END012 Endometriosis in Scar of Skin 6
654 PRM017 Parametrium Malignant Neoplasm 6
655 CRV003 Cervical Endometrial Stromal Sarcoma 6
656 VLV025 Vulvar Alveolar Soft Part Sarcoma 6
657 UTR025 Uterine Corpus Adenofibroma 6
658 BRT009 Bartholin's Gland Adenomyoma 6
659 VLV003 Vulvar Basaloid Squamous Cell Carcinoma 6
660 PNS006 Penis Papillary Carcinoma 6
661 c SMN004 Seminal Vesicle Chronic Gonorrhea 6
662 GST021 Gestational Uterine Corpus Choriocarcinoma 6
663 GNT034 Giant Adenofibroma of the Breast 6
664 UTR005 Uterine Corpus Adenomatoid Tumor 5
665 UTR015 Uterine Corpus Myxoid Leiomyoma 5
666 ADN019 Adenomyoma of Uterine Corpus 5
667 UTR023 Uterine Corpus Epithelioid Leiomyosarcoma 5
668 UTR021 Uterine Corpus Myxoid Leiomyosarcoma 5
669 UTR022 Uterine Corpus Atypical Polypoid Adenomyoma 5
670 END022 Endometrial Type Cervical Adenomyoma 5
671 PRT139 Partial Bilateral Aplasia of the Mullerian Ducts 5
672 THC005 Theca Steroid-Producing Cell Malignant Tumor of Ovary, Not Further Specified 5
673 HRN002 Hernia of Ovary and Fallopian Tube 5
674 VGN022 Vaginal Squamous Tumor 5
675 VLV028 Vulvar Non-Keratinizing Squamous Cell Carcinoma 5
676 VLV024 Vulvar Clear Cell Hidradenocarcinoma 5
677 END027 Endometrial Mixed Adenocarcinoma 5
678 FLL012 Fallopian Tube Cystadenofibroma 5
679 GLS005 Glassy Cell Variant Cervical Adenosquamous Carcinoma 5
680 MLG026 Male Genital Organ Vascular Disease 5
681 UTR014 Uterine Corpus Epithelioid Leiomyoma 5
682 CRV041 Cervix Endometrial Stromal Tumor 5
683 RTV001 Rete Ovarii Cystadenoma 5
684 CRV021 Cervical Atypical Polypoid Adenomyoma 5
685 NNC016 Non-Acquired Premature Ovarian Failure 5
686 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
687 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
688 END026 Endocervical Type Cervical Mucinous Adenocarcinoma 4
689 CRC031 Carcinofibroma of the Corpus Uteri 4
690 UTR003 Uterine Corpus Diffuse Leiomyomatosis 4
691 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
692 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
693 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
694 CHY001 Chylocele of Tunica Vaginalis 4
695 MCN025 Mucinous Cystadenoma of Childhood 4
696 SRS014 Serous Cystadenoma of Childhood 4
697 UTR008 Uterine Corpus Adenocarcinofibroma 3
698 ANM050 Anomaly of Puberty or/and Menstrual Cycle 3
699 SYN099 Syndromic Breast Hypoplasia/aplasia 3
700 EXC006 Excess Breast Volume or Number 3
701 OVR122 Ovarian Sex Cord-Stromal Benign Neoplasm 3
702 NNS049 Non-Syndromic Uterovaginal Malformation 3
703 URG001 Urogenital Tuberculosis 28
704 CLR014 Clear Cell Adenoma 24
705 LMB076 Lumbar Syndrome 26
706 CYS001 Cystic Fibrosis 80
707 FLL027 Fallopian Tube Carcinoma 67
708 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 65
709 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
710 PTT048 Pituitary Adenoma, Prolactin-Secreting 64
711 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63
712 PTT046 Pituitary Hormone Deficiency, Combined, 2 63
713 END041 Endometrial Adenocarcinoma 63
714 CRC021 Carcinosarcoma 61
715 CHC001 Chickenpox 60
716 CRY035 Cryptorchidism, Unilateral or Bilateral 59
717 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
718 c HYD046 Hydatidiform Mole, Recurrent, 1 59
719 PLC005 Placental Insufficiency 57
720 ORL005 Oral Candidiasis 56
721 P MLN007 Male Infertility 56
722 VGN017 Vaginal Cancer 55
723 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 55
724 c BRD011 Bardet-Biedl Syndrome 10 54
725 MYM001 Myoma 53
726 ADR049 Adrenal Hypoplasia, Congenital 51
727 c BRS049 Breast Carcinoma in Situ 50
728 KRT010 Kartagener Syndrome 50
729 P 46X052 46,xx Sex Reversal 1 50
730 CRV040 Cervix Carcinoma 50
731 c INF023 Inflammatory Breast Carcinoma 49
732 PRP007 Priapism 48
733 c CNT075 Central Precocious Puberty 47
734 P PRC019 Precocious Puberty 47
735 GST010 Gestational Trophoblastic Neoplasm 46
736 DYS101 Dysgerminoma 45
737 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 45
738 c SPR009 Sporadic Breast Cancer 45
739 P OVR046 Ovarian Cyst 45
740 P TST026 Testicular Germ Cell Cancer 44
741 P RRB004 Rare Breast Tumor 44
742 PRS042 Prostate Disease 44
743 TST015 Testicular Disease 43
744 END032 Endometrial Clear Cell Adenocarcinoma 43
745 c 46X002 46 Xx Gonadal Dysgenesis 43
746 ECT093 Ectopic Cushing Syndrome 42
747 c SPR041 Spermatogenic Failure 6 42
748 c BRD019 Bardet-Biedl Syndrome 7 42
749 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 41
750 c SPR043 Spermatogenic Failure 9 40
751 PNS010 Penis Squamous Cell Carcinoma 40
752 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 40
753 c NNN021 Noonan Syndrome 8 40
754 ACT245 Acth-Dependent Cushing Syndrome 39
755 TST018 Testicular Yolk Sac Tumor 39
756 RRC011 Rare Cancer of Corpus Uteri 39
757 ENT001 Enterocele 39
758 GST052 Gestational Choriocarcinoma 39
759 P SRT002 Sertoli Cell Tumor 39
760 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37
761 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 36
762 DYS017 Dysgerminoma of Ovary 35
763 P OVR010 Ovarian Brenner Tumor 35
764 OVR121 Ovarian Sex-Cord Stromal Tumor 35
765 P LYD011 Leydig Cell Hypoplasia 34
766 PRT049 Partial Deletion of Y 34
767 c BNG029 Benign Struma Ovarii 34
768 HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34
769 CRV022 Cervix Small Cell Carcinoma 33
770 END043 Endometrial Stromal Tumor 33
771 CRV037 Cervical Mucinous Adenocarcinoma 33
772 BCK005 Becker Nevus Syndrome 33
773 SPT023 Septate Uterus 33
774 c SPR093 Spermatogenic Failure, Y-Linked, 2 32
775 OVR048 Ovarian Cystadenoma 32
776 c CLR056 Ciliary Dyskinesia, Primary, 10 32
777 OVR109 Ovarian Germ Cell Teratoma 32
778 c SPR089 Spermatogenic Failure 4 31
779 FLL015 Fallopian Tube Serous Adenocarcinoma 31
780 UTR031 Uterine Benign Neoplasm 30
781 c SPR061 Spermatogenic Failure 5 30
782 c CLR116 Ciliary Dyskinesia, Primary, 29 29
783 c MLG059 Malignant Struma Ovarii 29
784 c CLR069 Ciliary Dyskinesia, Primary, 8 29
785 LPM001 Lipoma of Spermatic Cord 29
786 c RRD004 Rare Adenocarcinoma of the Breast 29
787 CRV026 Cervical Clear Cell Adenocarcinoma 29
788 EPD017 Epididymis Cancer 29
789 NPP006 Nipples, Supernumerary 29
790 c CLR067 Ciliary Dyskinesia, Primary, 4 29
791 CRV014 Cervical Adenoma Malignum 28
792 OVR057 Ovarian Serous Adenofibroma 28
793 BRT045 Bartholin's Gland Benign Neoplasm 28
794 IDP034 Idiopathic Central Precocious Puberty 28
795 c CWD004 Cowden Syndrome 5 28
796 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 27
797 CRV036 Cervical Carcinosarcoma 27
798 c CLR059 Ciliary Dyskinesia, Primary, 13 27
799 VLV030 Vulvar Proximal-Type Epithelioid Sarcoma 27
800 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 27
801 RTT004 Rete Testis Adenocarcinoma 27
802 FLL028 Fallopian Tube Carcinosarcoma 27
803 NNG002 Non-Gestational Ovarian Choriocarcinoma 26
804 VLV050 Vulvar Adenocarcinoma 26
805 c 46X017 46,xy Sex Reversal 6 26
806 c CLR123 Ciliary Dyskinesia, Primary, 37 26
807 MLG164 Malignant Epithelial Tumor of Ovary 26
808 APR009 Aprosencephaly Syndrome 26
809 MXD024 Mixed Epithelial Tumor of Ovary 26
810 FLL014 Fallopian Tube Transitional Cell Carcinoma 26
811 PRM284 Primitive Neuroectodermal Tumor of the Cervix Uteri 25
812 UTR054 Uterine Hypoplasia 25
813 c CLR114 Ciliary Dyskinesia, Primary, 30 25
814 TST007 Testicular Infarct 25
815 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
816 P RCR026 Recurrent Hydatidiform Mole 25
817 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
818 VLV016 Vulvar Apocrine Adenocarcinoma 25
819 PRR031 Pruritic Urticarial Papules and Plaques of Pregnancy 25
820 c CLR125 Ciliary Dyskinesia, Primary, 33 25
821 NNG001 Non-Gestational Choriocarcinoma 25
822 c CLR091 Ciliary Dyskinesia, Primary, 14 25
823 c BRS088 Breast-Ovarian Cancer, Familial 3 25
824 PRS015 Prostate Signet Ring Cell Adenocarcinoma 25
825 c PRM089 Premature Ovarian Failure 3 25
826 PNS002 Penis Carcinoma in Situ 25
827 OVR039 Ovarian Mesodermal Adenosarcoma 24
828 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
829 FLL022 Fallopian Tube Clear Cell Adenocarcinoma 24
830 c SPR088 Spermatogenic Failure 7 24
831 c CLR098 Ciliary Dyskinesia, Primary, 27 24
832 c CLR090 Ciliary Dyskinesia, Primary, 22 24
833 c CLR105 Ciliary Dyskinesia, Primary, 20 24
834 CRV011 Cervical Serous Adenocarcinoma 24
835 TRC121 Trichomonas Vaginalis Trichomoniasis 23
836 SCR017 Scrotum Neoplasm 23
837 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 23
838 c SYN140 Syndrome with 46,xy Disorder of Sex Development 23
839 c PRM094 Premature Ovarian Failure 5 23
840 c CLR107 Ciliary Dyskinesia, Primary, 24 23
841 c LPR023 Leprosy 1 23
842 c CLR138 Ciliary Dyskinesia, Primary, 38 23
843 c PRS031 Prostate Carcinoma in Situ 23
844 VST005 Vestibular Gland Benign Neoplasm 22
845 MCN003 Mucinous Ovarian Cystadenoma 22
846 c 46X056 46,xy Sex Reversal 5 22
847 c SPR081 Spermatogenic Failure 11 22
848 c CLR126 Ciliary Dyskinesia, Primary, 35 22
849 c CLR088 Ciliary Dyskinesia, Primary, 21 22
850 CRV015 Cervical Large Cell Neuroendocrine Carcinoma 22
851 SMN005 Seminal Vesicle Adenocarcinoma 21
852 c SPR131 Spermatogenic Failure 28 21
853 c SPR115 Spermatogenic Failure 19 21
854 c PRM295 Premature Ovarian Failure 15 21
855 c CLR054 Ciliary Dyskinesia, Primary, 12 21
856 NNS033 Non-Syndromic Male Infertility Due to Sperm Motility Disorder 21
857 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
858 c SPR114 Spermatogenic Failure 20 20
859 VLV023 Vulvar Eccrine Porocarcinoma 20
860 c OVR115 Ovarian Dysgenesis 5 20
861 c SPR110 Spermatogenic Failure 17 20
862 RTT005 Rete Testis Neoplasm 20
863 c PRM191 Premature Ovarian Failure 9 20
864 c SPR091 Spermatogenic Failure, X-Linked, 2 20
865 PNS007 Penis Sarcoma 20
866 VGN002 Vagina Leiomyoma 20
867 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 20
868 c SPR082 Spermatogenic Failure 10 20
869 BRT015 Bartholin's Gland Adenocarcinoma 19
870 VGN031 Vaginal Atresia 19
871 LPS003 Liposarcoma of the Ovary 19
872 c SPR087 Spermatogenic Failure 12 19
873 FLL017 Fallopian Tube Squamous Cell Carcinoma 19
874 SMN006 Seminal Vesicle Tumor 19
875 TST040 Testicular Trophoblastic Tumor 19
876 c CLR143 Ciliary Dyskinesia, Primary, 43 18
877 c MLN078 Male Infertility Due to Acephalic Spermatozoa 18
878 c SPR096 Spermatogenic Failure 13 18
879 OVR004 Ovary Neuroendocrine Neoplasm 18
880 SCR016 Scrotal Carcinoma 17
881 c SPR150 Spermatogenic Failure 40 17
882 OVR037 Ovarian Solid Teratoma 17
883 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
884 VGN021 Vaginal Glandular Tumor 17
885 IST001 Isthmus Cancer 17
886 c SPR095 Spermatogenic Failure 14 17
887 c SPR116 Spermatogenic Failure 15 17
888 c SPR135 Spermatogenic Failure 32 17
889 c SPR133 Spermatogenic Failure 30 16
890 MCN019 Mucinous Adenocarcinoma of Ovary 16
891 CLT001 Clitoris Cancer 16
892 CRV001 Cervical Endometrioid Adenocarcinoma 16
893 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
894 SPT015 Septate Vagina 16
895 MLG155 Maligant Granulosa Cell Tumor of the Ovary 16
896 c PST093 Posterior Hypospadias 15
897 CLR006 Clear Cell Cystadenofibroma 15
898 CMP079 Complete Septate Uterus 15
899 SRC029 Sarcoma of Cervix Uteri 14
900 FLL025 Fallopian Tube Benign Neoplasm 14
901 VLV049 Vulvar Basal Cell Carcinoma 14
902 LNG081 Longitudinal Vaginal Septum 14
903 CRC040 Carcinosarcoma of the Cervix Uteri 14
904 c MLN081 Male Infertility Due to Sperm Motility Disorder 13
905 SCR014 Scrotum Basal Cell Carcinoma 13
906 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
907 c KLL007 Kallmann Syndrome 5 13
908 FLL016 Fallopian Tube Papillary Adenocarcinoma 13
909 c RRM015 Rare Male Infertility 13
910 46X015 46,xy Ovotesticular Disorder of Sex Development 12
911 BRS039 Breast Fibroadenosis 12
912 OVR031 Ovarian Papillary Cystadenoma 12
913 PNS005 Penis Mixed Squamous Cell Carcinoma 12
914 FLL011 Fallopian Tube Gestational Choriocarcinoma 12
915 UND002 Undifferentiated Carcinoma of the Corpus Uteri 12
916 ADN062 Adenoid Basal Carcinoma of the Cervix Uteri 11
917 P OVR052 Ovarian Endometrioid Adenofibroma 11
918 WLF005 Wolffian Adnexal Neoplasm 11
919 c RRB002 Rare Benign Breast Tumor 11
920 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
921 LBM005 Labia Minora Cancer 10
922 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
923 PRM193 Primary Non-Gestational Choriocarcinoma of Ovary 10
924 PRR005 Paraurethral Gland Cancer 10
925 TBR005 Tuberculous Oophoritis 9
926 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
927 SRC005 Sarcomatoid Penile Squamous Cell Carcinoma 9
928 CWP002 Cowper Gland Carcinoma 9
929 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 8
930 UTR041 Uterine Ligament Cancer 8
931 MLG156 Malignant Dysgerminomatous Germ Cell Tumor of the Ovary 8
932 GLN007 Glans Penis Cancer 8
933 CHL026 Childhood Ovarian Embryonal Carcinoma 8
934 OVR038 Ovarian Fetiform Teratoma 8
935 c KLL006 Kallmann Syndrome 4 8
936 TRN048 Transitional Cell Carcinoma of the Corpus Uteri 8
937 c RRP025 Rare Precocious Puberty 7
938 P RRF012 Rare Female Infertility 7
939 BRT010 Bartholin's Gland Transitional Cell Carcinoma 7
940 FLL030 Fallopian Tube Germ Cell Cancer 7
941 P ADL024 Adult Central Nervous System Choriocarcinoma 7
942 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
943 BRT003 Bartholin's Gland Small Cell Carcinoma 7
944 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
945 PRS001 Prostate Colloid Adenocarcinoma 7
946 CRV007 Cervical Alveolar Soft Part Sarcoma 7
947 OVR032 Ovarian Surface Papilloma 7
948 MLG117 Malignant Germ Cell Tumor of the Cervix Uteri 7
949 P SYN117 Syndrome with Disorder of Sex Development of Gynecological Interest 7
950 VLL004 Villoglandular Variant Cervical Mucinous Adenocarcinoma 6
951 FLL005 Fallopian Tube Adenosarcoma 6
952 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
953 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
954 VGN032 Vaginal Squamous Papilloma 6
955 FLL009 Fallopian Tube Adenomatoid Tumor 6
956 VLL002 Villoglandular Endometrial Endometrioid Adenocarcinoma 6
957 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
958 c MLN082 Male Infertility Due to Sperm Disorder 6
959 VLV037 Vulvar Glandular Tumor 5
960 FLL002 Fallopian Tube Mucinous Tumor 5
961 VLV013 Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma 5
962 LYM003 Lymphoepithelioma-Like Acinar Prostate Adenocarcinoma 5
963 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 5
964 MKT001 Mikati-Najjar-Sahli Syndrome 5
965 MLG127 Malignant Non-Dysgerminomatous Germ Cell Tumor of Ovary 5
966 PPL043 Papillary Carcinoma of the Cervix Uteri 5
967 c BNG035 Benign Vaginal Carcinosarcoma 5
968 CHN007 Chondroid Syringoma of the Vulva 5
969 OVR014 Ovarian Clear Cell Cystadenofibroma 5
970 SGN004 Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma 5
971 VLV029 Vulvar Eccrine Adenocarcinoma 5
972 PLY009 Polyembryoma of the Ovary 5
973 OXY001 Oxyphilic Endometrial Endometrioid Adenocarcinoma 5
974 SCR004 Secretory Uterine Corpus Endometrioid Adenocarcinoma 5
975 MCN002 Mucin-Rich Endometrial Endometrioid Adenocarcinoma 5
976 SRC012 Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma 5
977 MLG161 Malignant Mixed Epithelial and Mesenchymal Tumor of Corpus Uteri 5
978 MLG114 Malignant Germ Cell Tumor of the Corpus Uteri 5
979 MLG165 Malignant Non-Epithelial Tumor of Ovary 5
980 BCR004 Bicervical Bicornuate Uterus with Patent Cervix and Vagina 5
981 MLG146 Malignant Germ Cell Tumor of the Vagina 5
982 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
983 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
984 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
985 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
986 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
987 LTT003 Littre Gland Carcinoma 5
988 UTR055 Uterine Cervical Aplasia and Agenesis 5
989 GLS017 Glassy Cell Carcinoma of the Cervix Uteri 5
990 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
991 UTR013 Uterine Ligament Papillary Cystadenoma 4
992 PNS001 Penis Non-Invasive Verrucous Carcinoma 4
993 PNS003 Penis Basaloid Carcinoma 4
994 c MLN062 Male Infertility with Spermatogenesis Disorder Due to Single Gene Mutation 4
995 P MLN061 Male Infertility with Spermatogenesis Disorder 4
996 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
997 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
998 SXC003 Sex Cord-Stromal Benign Neoplasm 4
999 FML007 Familiar Fallopian Tube Carcinoma 4
1000 RRB005 Rare Breast Malformation 4
1001 PPL042 Papillary Carcinoma of the Corpus Uteri 4
1002 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
1003 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
1004 BNG082 Benign Tumor of Fallopian Tubes 4
1005 RRN006 Rare Non-Malformative Breast Disease 3
1006 c 46X061 46,xy Disorder of Sex Development of Gynecological Interest 3
1007 RRD006 Rare Idiopathic Male Infertility 3
1008 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
1009 RRN007 Rare Non-Malformative Gynecologic or Obstetric Disease 3
1010 RRD008 Rare Disorder Related with Pregnancy, Childbirth and Puerperium 3
1011 RRV003 Rare Vulvovaginal Tumor 3
1012 RRN004 Rare Non-Malformative Uterine Adnexal Disease 3
1013 HYP849 Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies 3
1014 RRN008 Rare Non-Malformative Uterovaginal or Vulvovaginal Disease 3
1015 RRT003 Rare Uterine Adnexal Tumor 3
1016 GND016 Gonadal Dysgenesis of Gynecological Interest 3
1017 P ATX030 Ataxia-Telangiectasia 83
1018 CRV035 Cervical Cancer 76
1019 END057 Endometrial Cancer 74
1020 MCC012 Mccune-Albright Syndrome 70
1021 P CWD010 Cowden Syndrome 66
1022 P BRD002 Bardet-Biedl Syndrome 66
1023 P DBT009 Diabetes Mellitus 64
1024 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
1025 UTR024 Uterine Carcinosarcoma 59
1026 P SYP003 Syphilis 59
1027 c CLR131 Ciliary Dyskinesia, Primary, 1 58
1028 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58
1029 P PNL012 Penile Cancer 56
1030 OVR012 Ovarian Serous Cystadenocarcinoma 56
1031 ANG005 Anogenital Venereal Wart 56
1032 PRP009 Peripartum Cardiomyopathy 55
1033 c BRS111 Breast-Ovarian Cancer, Familial 2 53
1034 P HYP040 Hypospadias 51
1035 c BRD012 Bardet-Biedl Syndrome 11 50
1036 GLC106 Glucocorticoid Resistance, Generalized 48
1037 c PRM093 Premature Ovarian Failure 7 47
1038 c BRS007 Breast Malignant Phyllodes Tumor 45
1039 SXC001 Sex Cord-Gonadal Stromal Tumor 45
1040 c NNN011 Noonan Syndrome 4 44
1041 P LYD001 Leydig Cell Tumor 43
1042 P ACT244 Acth-Independent Cushing Syndrome 43
1043 c BRD044 Bardet-Biedl Syndrome 17 42
1044 c LYM150 Lymphatic Malformation 7 41
1045 c CLR136 Ciliary Dyskinesia, Primary, 9 41
1046 c SCN006 Secondary Syphilis 39
1047 48X005 48,xyyy 39
1048 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 39
1049 OVR034 Ovarian Clear Cell Adenocarcinoma 38
1050 c CNG033 Congenital Syphilis 38
1051 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 38
1052 OVR105 Ovarian Serous Carcinoma 37
1053 P SRT003 Sertoli-Leydig Cell Tumor 37
1054 46X012 46,xy Partial Gonadal Dysgenesis 37
1055 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 37
1056 c LPR022 Leprosy 2 37
1057 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 36
1058 ANR018 Anorchia 36
1059 P BNG013 Benign Breast Phyllodes Tumor 36
1060 c CLR135 Ciliary Dyskinesia, Primary, 7 35
1061 OVR047 Ovarian Cystadenocarcinoma 35
1062 OVR011 Ovarian Mucinous Adenocarcinoma 35
1063 P MXD016 Mixed Gonadal Dysgenesis 34
1064 TST010 Testicular Spermatocytic Seminoma 33
1065 FLL003 Fallopian Tube Endometrioid Adenocarcinoma 33
1066 c PRS114 Prostate Cancer, Hereditary, 2 33
1067 c CLR066 Ciliary Dyskinesia, Primary, 2 33
1068 PRP098 Proprotein Convertase 1/3 Deficiency 33
1069 CHR076 Choriocarcinoma of the Testis 33
1070 c LTC001 Late Congenital Syphilis 33
1071 EPT003 Epithelioid Trophoblastic Tumor 32
1072 c PRC047 Precocious Puberty, Central, 1 32
1073 c 46X049 46,xy Sex Reversal 2 32
1074 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 32
1075 c PRM022 Primary Syphilis 32
1076 c MLG053 Malignant Ovarian Brenner Tumor 32
1077 c RRD013 Rare Diabetes Mellitus Type 2 32
1078 c RRM003 Rare Malignant Breast Tumor 31
1079 OVR123 Ovarian Seromucinous Carcinoma 31
1080 c SPR113 Spermatogenic Failure 18 31
1081 c SPR111 Spermatogenic Failure 16 31
1082 IMM005 Immature Teratoma of Ovary 31
1083 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 31
1084 FLL023 Fallopian Tube Adenocarcinoma 30
1085 SPR018 Spermatocytoma 30
1086 c TYP028 Type 1 Diabetes Mellitus 2 30
1087 c CNG562 Congenital Hypogonadotropic Hypogonadism 30
1088 MLL011 Mullerian Aplasia and Hyperandrogenism 30
1089 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
1090 c 46X057 46,xy Sex Reversal 8 30
1091 c ERL002 Early Congenital Syphilis 29
1092 P TST016 Testicular Granulosa Cell Tumor 29
1093 c 46X048 46,xx Sex Reversal 2 28
1094 VGN014 Vagina Sarcoma 28
1095 TST020 Testis Seminoma 28
1096 48X001 48, Xxxx 28
1097 c BRS098 Breast-Ovarian Cancer, Familial 4 27
1098 c LYM149 Lymphatic Malformation 6 27
1099 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 27
1100 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
1101 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
1102 YNG002 Young Syndrome 27
1103 c SPR084 Spermatogenic Failure 2 26
1104 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1105 c CLR104 Ciliary Dyskinesia, Primary, 15 26
1106 c CLR053 Ciliary Dyskinesia, Primary, 11 26
1107 c CLR097 Ciliary Dyskinesia, Primary, 23 25
1108 OVR021 Ovarian Lymphoma 25
1109 c PRS134 Prostate Cancer, Hereditary, 3 25
1110 c PLY141 Polycystic Kidney Disease 5 24
1111 c CLR117 Ciliary Dyskinesia, Primary, 32 24
1112 c CLR106 Ciliary Dyskinesia, Primary, 26 24
1113 c PRR024 Perrault Syndrome 3 24
1114 BRT016 Bartholin's Gland Carcinoma 24
1115 HMT001 Hematocele of Tunica Vaginalis Testis 24
1116 c PRM091 Premature Ovarian Failure 2b 24
1117 c PRR022 Perrault Syndrome 2 24
1118 c CLR099 Ciliary Dyskinesia, Primary, 16 24
1119 c PNL017 Penile Cancer, Adult 24
1120 c PRM207 Premature Ovarian Failure 10 24
1121 c MLG072 Malignant Leydig Cell Tumor 24
1122 c TYP036 Type 1 Diabetes Mellitus 12 23
1123 c OVR107 Ovarian Dysgenesis 4 23
1124 c CLR101 Ciliary Dyskinesia, Primary, 25 23
1125 c PRS080 Prostate Cancer, Hereditary, 7 23
1126 VLV002 Vulva Basal Cell Carcinoma 23
1127 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 23
1128 c PRC046 Precocious Puberty, Central, 2 23
1129 PLY115 Polyendocrine-Polyneuropathy Syndrome 22
1130 TST005 Testicular Gonadoblastoma 22
1131 c TYP029 Type 1 Diabetes Mellitus 3 22
1132 c ADL043 Adult Type Testicular Granulosa Cell Tumor 22
1133 c TYP027 Type 1 Diabetes Mellitus 10 22
1134 c TYP035 Type 1 Diabetes Mellitus 11 22
1135 MSC089 Mosaic Monosomy X 21
1136 TTR018 Tetragametic Chimerism 21
1137 c OVR119 Ovarian Dysgenesis 7 21
1138 FLL001 Fallopian Tube Mucinous Adenocarcinoma 21
1139 c OVR102 Ovarian Dysgenesis 3 21
1140 c CLR124 Ciliary Dyskinesia, Primary, 34 21
1141 SPR014 Spermatic Cord Cancer 21
1142 TST012 Testicular Fibroma 21
1143 c TYP034 Type 1 Diabetes Mellitus 8 21
1144 c TYP030 Type 1 Diabetes Mellitus 4 21
1145 c TYP033 Type 1 Diabetes Mellitus 7 20
1146 c PLY176 Polycystic Kidney Disease 4 20
1147 c TYP032 Type 1 Diabetes Mellitus 6 20
1148 c SPR042 Spermatogenic Failure 8 20
1149 c TYP040 Type 1 Diabetes Mellitus 18 20
1150 c LPR017 Leprosy 5 20
1151 c MLG021 Malignant Sertoli-Leydig Cell Tumor 19
1152 c 46X046 46,xy Sex Reversal 4 19
1153 c PRM292 Premature Ovarian Failure 14 19
1154 c TYP039 Type 1 Diabetes Mellitus 17 19
1155 c 46X060 46,xx Disorder of Sex Development 19
1156 P PRM176 Premature Ovarian Failure 2a 18
1157 c TYP038 Type 1 Diabetes Mellitus 15 18
1158 TST013 Testicular Thecoma 18
1159 c TYP031 Type 1 Diabetes Mellitus 5 18
1160 c ERL005 Early Invasive Cervical Adenocarcinoma 17
1161 c TYP037 Type 1 Diabetes Mellitus 13 17
1162 c PRS081 Prostate Cancer, Hereditary, 9 17
1163 c SPR112 Spermatogenic Failure 21 17
1164 c LYM146 Lymphatic Malformation 2 16
1165 c PRS074 Prostate Cancer, Hereditary, 10 15
1166 TST041 Testicular Germ Cell Tumor Non-Seminomatous 15
1167 ISL068 Isolated Partial Vaginal Agenesis 15
1168 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
1169 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 15
1170 c HYD068 Hydatidiform Mole, Recurrent, 4 15
1171 c SPR153 Spermatogenic Failure 43 14
1172 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
1173 TST019 Testis Sarcoma 13
1174 c PRS075 Prostate Cancer, Hereditary, 14 13
1175 XSM001 X Small Rings 12
1176 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 11
1177 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
1178 RRT013 Rare Uterine Cancer 10
1179 LBM004 Labium Majus Cancer 10
1180 c RRD012 Rare Diabetes Mellitus Type 1 9
1181 RND001 Round Ligament Malignant Neoplasm 8
1182 SLV014 Salivary Gland Type Cancer of the Breast 8
1183 BRD006 Broad Ligament Malignant Neoplasm 8
1184 FLL007 Fallopian Tube Leiomyosarcoma 8
1185 UTR040 Uterine Ligament Adenocarcinoma 8
1186 CRV027 Cervical Lymphoepithelioma-Like Carcinoma 8
1187 c RRD011 Rare Disorder with Hypogonadotropic Hypogonadism 8
1188 c ACQ064 Acquired Premature Ovarian Failure 8
1189 MLG017 Malignant Tumor of Undescended Testis 7
1190 PLM023 Pulmonary Artery Choriocarcinoma 7
1191 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1192 CHL042 Childhood Choriocarcinoma of the Testis 7
1193 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
1194 RTV002 Rete Ovarii Adenocarcinoma 7
1195 LWG004 Low-Grade Neuroendocrine Tumor of the Corpus Uteri 7
1196 c RRD067 Rare Diabetes Mellitus 7
1197 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
1198 CHL048 Childhood Teratocarcinoma of the Testis 7
1199 PDT011 Pediatric Cns Choriocarcinoma 6
1200 TST006 Testicular Monophasic Choriocarcinoma 6
1201 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
1202 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1203 PRM283 Primitive Neuroectodermal Tumor of the Corpus Uteri 6
1204 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1205 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
1206 P SMN001 Seminal Vesicle Acute Gonorrhea 6
1207 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
1208 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
1209 OVR028 Ovarian Squamous Cell Neoplasm 5
1210 UTR012 Uterine Ligament Serous Adenocarcinoma 5
1211 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
1212 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1213 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1214 TST042 Testicular Pure Germ Cell Tumor 5
1215 TBL005 Tubular Variant Testicular Seminoma 5
1216 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
1217 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
1218 CRB003 Cribriform Variant Testicular Seminoma 5
1219 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
1220 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
1221 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
1222 PSD013 Pseudoglandular Variant Testicular Seminoma 5
1223 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
1224 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
1225 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1226 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
1227 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 4
1228 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
1229 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
1230 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
1231 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
1232 c OVR071 Ovarian Insufficiency, Familial 4
1233 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1234 c CHR461 Choriocarcinoma of the Central Nervous System 4
1235 RRV001 Rare Variants of Adenocarcinoma of the Corpus Uteri 4
1236 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 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 RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
1241 RRV004 Rare Vaginal Malformation 3
1242 GNT003 Genital Herpes 54
1243 c CWD006 Cowden Syndrome 1 77
1244 ACR007 Acromegaly 71
1245 c PRM196 Premature Ovarian Failure 1 68
1246 P MYC084 Mycobacterium Tuberculosis 1 68
1247 P LPR021 Leprosy 3 67
1248 ADR054 Adrenocortical Carcinoma, Hereditary 66
1249 AND002 Androgen Insensitivity Syndrome 66
1250 HYP020 Hyperprolactinemia 64
1251 P LPR002 Leopard Syndrome 64
1252 P PLY014 Polycystic Kidney Disease 59
1253 VLV032 Vulva Cancer 59
1254 P ACT010 Acth-Secreting Pituitary Adenoma 57
1255 LMY014 Leiomyoma, Uterine 56
1256 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 54
1257 c BRS110 Breast-Ovarian Cancer, Familial 1 51
1258 VLV034 Vulva Squamous Cell Carcinoma 47
1259 LPT006 Leptin Receptor Deficiency 47
1260 CHR074 Choriocarcinoma 46
1261 TST014 Testicular Cancer 46
1262 END031 Endometrial Stromal Sarcoma 46
1263 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 46
1264 c BRD047 Bardet-Biedl Syndrome 16 44
1265 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 44
1266 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 43
1267 SCL046 Scalp-Ear-Nipple Syndrome 43
1268 c PRS097 Prostate Cancer, Hereditary, 1 41
1269 BSM002 Bosma Arhinia Microphthalmia Syndrome 40
1270 EST007 Estrogen Resistance 39
1271 TST004 Testicular Lymphoma 38
1272 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 38
1273 c OVR058 Ovarian Small Cell Carcinoma 38
1274 KRK001 Krukenberg Carcinoma 37
1275 BCH003 Boucher-Neuhauser Syndrome 37
1276 c CLR134 Ciliary Dyskinesia, Primary, 3 36
1277 c LPR012 Leopard Syndrome 1 36
1278 P OVR075 Ovarian Dysgenesis 1 36
1279 OVR050 Ovarian Embryonal Carcinoma 35
1280 c 46X055 46,xy Sex Reversal 3 35
1281 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 35
1282 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1283 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 31
1284 PRS017 Prostate Neuroendocrine Neoplasm 30
1285 c TRC100 Trichothiodystrophy 3, Photosensitive 29
1286 UTR057 Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis 29
1287 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 28
1288 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
1289 DFN039 Deafness-Infertility Syndrome 28
1290 P TST001 Testicular Leydig Cell Tumor 26
1291 TST003 Testicular Leukemia 26
1292 c LPR007 Leopard Syndrome 3 26
1293 c CWD009 Cowden Syndrome 7 25
1294 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
1295 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1296 c NNN029 Noonan Syndrome 11 24
1297 c PRS117 Prostate Cancer, Hereditary, 11 24
1298 c LPR011 Leopard Syndrome 2 24
1299 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
1300 c PRR026 Perrault Syndrome 5 23
1301 c PRS070 Prostate Cancer, Hereditary, 12 22
1302 c PSD047 Pseudo-Turner Syndrome 21
1303 c OVR120 Ovarian Dysgenesis 8 20
1304 c PRR033 Perrault Syndrome 6 19
1305 HYD021 Hydrocephalus Obesity Hypogonadism 18
1306 c OVR118 Ovarian Dysgenesis 6 18
1307 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1308 c TST017 Testicular Malignant Germ Cell Cancer 17
1309 RRG074 Rare Gynecological Tumor 16
1310 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1311 XLN112 X-Linked Intellectual Disability, Cilliers Type 13
1312 c PRS076 Prostate Cancer, Hereditary, 15 13
1313 PDT023 Pediatric Testicular Germ Cell Tumor 10
1314 P RRC012 Rare Cancer of Cervix Uteri 10
1315 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1316 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1317 TST009 Testis Refractory Cancer 6
1318 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1319 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
1320 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1321 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1322 P HRP006 Herpes Simplex 65
1323 P FRG001 Fragile X Syndrome 68
1324 P RBL001 Rubella 58
1325 PSD021 Pseudovaginal Perineoscrotal Hypospadias 55
1326 c PTT057 Pituitary Adenoma 4, Acth-Secreting 51
1327 c NNN010 Noonan Syndrome 3 50
1328 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 49
1329 HND004 Hand-Foot-Genital Syndrome 49
1330 ARM004 Aromatase Excess Syndrome 47
1331 MRT007 Martsolf Syndrome 47
1332 c CNG124 Congenital Rubella 45
1333 TBR006 Tuberculoid Leprosy 45
1334 BRT059 Bartsocas-Papas Syndrome 43
1335 c 46X051 46,xy Sex Reversal 1 43
1336 49X006 49, Xxxxy Syndrome 41
1337 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 41
1338 GRD009 Gordon Holmes Syndrome 40
1339 c OVR114 Ovarian Cancer 1 38
1340 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
1341 ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 35
1342 c NNN013 Noonan Syndrome 6 35
1343 MCH011 Meacham Syndrome 34
1344 P TST048 Testicular Sex Cord-Stromal Neoplasm 32
1345 EMB006 Embryonal Testis Carcinoma 31
1346 P RRL003 Rare Lymphatic Malformation 31
1347 STY001 Satoyoshi Syndrome 30
1348 c CWD008 Cowden Syndrome 6 29
1349 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 29
1350 INT041 Intratubular Embryonal Carcinoma 28
1351 IND004 Indeterminate Leprosy 28
1352 c PRS071 Prostate Cancer, Hereditary, 13 25
1353 DFN313 Deafness-Hypogonadism Syndrome 25
1354 c BRD051 Bardet-Biedl Syndrome 20 25
1355 DTH005 Diethylstilbestrol Syndrome 25
1356 HYP683 Hypogonadism-Cataract Syndrome 24
1357 VNS015 Van Esch-O'driscoll Syndrome 24
1358 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
1359 c LPR020 Leprosy 6 17
1360 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1361 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1362 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 11
1363 CHL043 Childhood Embryonal Testis Carcinoma 8
1364 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1365 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 3
1366 EMB004 Embryonal Carcinoma 57
1367 c CNG100 Congenital Herpes Simplex 23
1368 LPT014 Leptin Deficiency or Dysfunction 73
1369 SCK003 Sickle Cell Anemia 72
1370 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
1371 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66
1372 c BRD010 Bardet-Biedl Syndrome 1 61
1373 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 55
1374 ARM001 Aromatase Deficiency 53
1375 P HYP730 Hypogonadotropic Hypogonadism 53
1376 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51
1377 c RBN022 Robinow Syndrome, Autosomal Recessive 1 51
1378 P INT099 Intrahepatic Cholestasis of Pregnancy 49
1379 c BRD020 Bardet-Biedl Syndrome 8 48
1380 c BRD015 Bardet-Biedl Syndrome 3 47
1381 c LYM144 Lymphatic Malformation 1 47
1382 c BRD032 Bardet-Biedl Syndrome 14 46
1383 c LYM145 Lymphatic Malformation 5 46
1384 c BRD013 Bardet-Biedl Syndrome 12 44
1385 c BRD033 Bardet-Biedl Syndrome 13 44
1386 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 43
1387 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42
1388 c LYD012 Leydig Cell Hypoplasia, Type I 36
1389 c FML353 Familial Ovarian Cancer 34
1390 TST033 Testicular Regression Syndrome 33
1391 c LYM147 Lymphatic Malformation 3 23
1392 MNT030 Mental Retardation Syndrome, Belgian Type 18
1393 c LPR016 Leprosy 4 17
1394 c CMP100 Campomelic Dysplasia and Related Disorders 13
1395 c FRG004 Fragile X Syndrome Type 1 4
1396 c FRG005 Fragile X Syndrome Type 2 4
1397 P NNN008 Noonan Syndrome 1 76
1398 P PRM011 Primary Ciliary Dyskinesia 69
1399 DNY001 Denys-Drash Syndrome 57
1400 c MYT020 Myotonic Dystrophy 2 57
1401 ULN003 Ulnar-Mammary Syndrome 57
1402 AND020 Androgen Insensitivity, Partial 55
1403 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 53
1404 P MYT002 Myotonic Dystrophy 49
1405 P PRS049 Persistent Mullerian Duct Syndrome 47
1406 P PRR025 Perrault Syndrome 41
1407 c BRD048 Bardet-Biedl Syndrome 18 40
1408 c BRD035 Bardet-Biedl Syndrome 15 37
1409 LMB008 Limb-Mammary Syndrome 35
1410 c LYM148 Lymphatic Malformation 4 22
1411 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 18
1412 CHR103 Charge Syndrome 66
1413 P PRD006 Prader-Willi Syndrome 59
1414 FRS002 Frasier Syndrome 53
1415 LRN001 Laurence-Moon Syndrome 51
1416 c BRD018 Bardet-Biedl Syndrome 6 48
1417 c NNN024 Noonan Syndrome 9 32
1418 c PRR020 Perrault Syndrome 1 30
1419 P CMP005 Campomelic Dysplasia 63
1420 c BRD021 Bardet-Biedl Syndrome 9 40
1421 c NNN009 Noonan Syndrome 2 40
1422 c CWD005 Cowden Syndrome 4 21
1423 GLC006 Galactosemia 65
1424 P TRC102 Trichothiodystrophy 1, Photosensitive 65
1425 c BRD014 Bardet-Biedl Syndrome 2 51
1426 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1427 c BRD016 Bardet-Biedl Syndrome 4 44



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