Endocrine Diseases Category (1794 diseases)


Including: Pancreas, Adrenal, Hormones, Glands
See other categories (disease lists)

# Family MCID Name MIFTS
1 PNC120 Pancreas, Dorsal, Agenesis of 24
2 PNC048 Pancreatic Lipase Deficiency 28
3 SLV025 Salivary Gland Adenoma, Pleomorphic 36
4 LCR011 Lacrimal Gland Carcinoma 24
5 TRP008 Tropical Calcific Pancreatitis 46
6 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 41
7 ISL123 Isolated Growth Hormone Deficiency, Type Iv 29
8 SLV003 Salivary Gland Disease 39
9 SWT008 Sweat Gland Benign Neoplasm 31
10 OST141 Osteoclastic Giant Cell Tumor of Pancreas 18
11 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
12 PRR005 Paraurethral Gland Cancer 10
13 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 41
14 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 39
15 ISL124 Isolated Growth Hormone Deficiency, Type V 21
16 APL002 Aplasia of Lacrimal and Salivary Glands 56
17 BRT045 Bartholin's Gland Benign Neoplasm 27
18 SBC017 Sebaceous Gland Disease 40
19 HDR004 Hidradenoma 37
20 MTC096 Mitchell-Riley Syndrome 31
21 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29
22 HLP031 Holoprosencephaly 12 with or Without Pancreatic Agenesis 24
23 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 23
24 PTT043 Pituitary Hormone Deficiency, Combined, 6 19
25 SLL001 Sialolithiasis 36
26 XLN182 X-Linked Cerebral Adrenoleukodystrophy 21
27 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 29
28 MCC003 Mucocele of Salivary Gland 26
29 CNG298 Congenital Pancreatic Cyst 19
30 ATM078 Autoimmune Addison Disease 18
31 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 16
32 BRN010 Bronchial Mucus Gland Adenoma 6
33 PRR003 Paraurethral Gland Neoplasm 6
34 PLM014 Pleomorphic Adenoma 51
35 SLD003 Sialadenitis 48
36 ADR022 Adrenomyeloneuropathy 39
37 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 34
38 SWT003 Sweat Gland Disease 32
39 ACC005 Accessory Pancreas 19
40 GRW003 Growth Hormone Insensitivity with Immunodeficiency 16
41 HLX001 Helix Syndrome 48
42 GLN006 Glandular Cystitis 29
43 BRT012 Bartholin's Gland Adenoma 25
44 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 25
45 PRT100 Parotid Gland Adenoid Cystic Carcinoma 21
46 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 20
47 BRT060 Bartholin's Gland Disease 19
48 BRT014 Bartholin's Duct Cyst 18
49 VGN021 Vaginal Glandular Tumor 14
50 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 9
51 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
52 BRT010 Bartholin's Gland Transitional Cell Carcinoma 6
53 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
54 MNR001 Minor Vestibular Glands Adenoma 6
55 BRT009 Bartholin's Gland Adenomyoma 6
56 VLV037 Vulvar Glandular Tumor 5
57 P SPP010 Suppressor of Tumorigenicity 3 51
58 GRW007 Growth Hormone Deficiency 46
59 PNC056 Pineocytoma 44
60 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 37
61 c NNS018 Nonsyndromic Paraganglioma 33
62 ADR001 Adrenal Rest Tumor 30
63 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 28
64 THY026 Thymus Gland Disease 27
65 SBM003 Submandibular Gland Disease 23
66 c SPP012 Suppressor of Tumorigenicity 11 19
67 HYP705 Hyperadrenalism 18
68 PRL002 Prolapse of Lacrimal Gland 18
69 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 17
70 ADN072 Adenoma of Pancreas 17
71 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 15
72 SQM014 Squamous Cell Carcinoma of Pancreas 14
73 HYP746 Hypersecretion of Adrenal Androgens, Familial 12
74 THY053 Thyroid Hormone Plasma Membrane Transport Defect 11
75 PRP074 Peripheral Resistance to Thyroid Hormones 10
76 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 10
77 SLV014 Salivary Gland Type Cancer of the Breast 8
78 FLL045 Follicular Cholangitis and Pancreatitis 8
79 CRC037 Carcinoma of Esophagus, Salivary Gland Type 7
80 ANL002 Anal Gland Neoplasm 7
81 CHR002 Chronic Lacrimal Gland Enlargement 5
82 RRP011 Rare Epithelial Tumor of Pancreas 5
83 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
84 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 2
85 P PRG013 Paraganglioma 57
86 GLN002 Glanders 38
87 MBM001 Meibomian Cyst 36
88 CYT014 Cytochrome P450 Oxidoreductase Deficiency 34
89 MKL001 Mikulicz Disease 41
90 ECC002 Eccrine Acrospiroma 36
91 LMB008 Limb-Mammary Syndrome 34
92 CHL075 Cheilitis Glandularis 24
93 VST005 Vestibular Gland Benign Neoplasm 22
94 PPL017 Papillary Hidradenoma 21
95 GLN001 Glandular Tularemia 18
96 PNC049 Pancreatic Adenoma 14
97 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 14
98 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 11
99 PNC055 Pancreatitis, Pediatric 7
100 LTT003 Littre Gland Carcinoma 5
101 c SLV006 Salivary Gland Cancer, Adult 4
102 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 4
103 MST005 Mastitis 53
104 PPL001 Papillary Adenoma 44
105 SBC009 Sebaceous Adenoma 36
106 GGN002 Gigantism 33
107 ATM061 Autoimmune Polyglandular Syndrome Type 3 28
108 FXF002 Fox-Fordyce Disease 26
109 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 25
110 TRY003 Trypsinogen Deficiency 18
111 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 17
112 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 17
113 GLC107 Glucocorticoid Deficiency 5 17
114 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 15
115 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 14
116 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 13
117 INT381 Intraductal Tubulopapillary Neoplasm of Pancreas 13
118 IGG012 Igg4-Related Submandibular Gland Disease 12
119 ECT097 Ectodermal Dysplasia with Adrenal Cyst 11
120 URT019 Urethral Gland Abscess 11
121 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 11
122 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
123 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 10
124 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 9
125 ADR053 Adrenal Hypoplasia, Cytomegalic Type 8
126 FNC012 Functioning Pancreatic Endocrine Tumor 8
127 PNL001 Pineal Gland Astrocytoma 6
128 PNC125 Pancreatic Lymphoma, Familial 5
129 RRT012 Rare Tumor of Salivary Glands 5
130 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
131 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
132 TMR021 Tumor of Endocrine Glands 3
133 GNT052 Genetic Pancreatic Disease 2
134 GNT093 Genetic Sebaceous Gland Anomaly 2
135 c HMC039 Hemochromatosis, Type 1 73
136 P FRG001 Fragile X Syndrome 70
137 SMT004 Smith-Lemli-Opitz Syndrome 70
138 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 64
139 HYP780 Hypoadrenocorticism, Familial 61
140 DNH001 Donohue Syndrome 61
141 c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 60
142 DBT087 Diabetes Insipidus, Neurohypophyseal 58
143 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
144 P THY032 Thyroiditis 57
145 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 57
146 P RRH023 Rare Hereditary Hemochromatosis 54
147 HYP060 Hyperinsulinism 54
148 P HYP076 Hyperthyroidism 53
149 c HMC009 Hemochromatosis Type 2 53
150 GTR002 Goiter 53
151 c HMC035 Hemochromatosis, Type 4 52
152 HDR003 Hidradenitis 50
153 HYP080 Hypogonadism 50
154 c HMC010 Hemochromatosis, Type 3 49
155 NDL007 Nodular Goiter 48
156 HYP043 Hyperandrogenism 48
157 WDM005 Wiedemann-Rautenstrauch Syndrome 47
158 c HYP243 Hyperparathyroidism 1 47
159 GYN001 Gynecomastia 47
160 c HLP028 Holoprosencephaly 5 47
161 PSD009 Pseudohermaphroditism 46
162 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45
163 OHD005 Ohdo Syndrome, Sbbys Variant 45
164 DBT090 Diabetes and Deafness, Maternally Inherited 45
165 MRG013 Mirage Syndrome 44
166 ORC001 Orchitis 44
167 MYX004 Myxedema 43
168 c HLP029 Holoprosencephaly 4 43
169 P MLT008 Multinodular Goiter 42
170 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
171 c HMC021 Hemochromatosis, Type 2a 41
172 c HMC034 Hemochromatosis, Type 5 41
173 WDH003 Woodhouse-Sakati Syndrome 40
174 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 39
175 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
176 PTT003 Pituitary-Dependent Cushing's Disease 39
177 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 39
178 P STR021 Struma Ovarii 39
179 c 46X002 46 Xx Gonadal Dysgenesis 38
180 ETH004 Euthyroid Sick Syndrome 38
181 P OVR075 Ovarian Dysgenesis 1 36
182 HYP070 Hyperpituitarism 36
183 c HMC019 Hemochromatosis, Type 2b 36
184 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
185 HRM002 Hermaphroditism 35
186 P PHC019 Pheochromocytoma-Paraganglioma 35
187 THY128 Thyroid Tumor 35
188 PLM011 Plummer's Disease 34
189 ADN064 Adenohypophysitis 34
190 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 33
191 c CNG562 Congenital Hypogonadotropic Hypogonadism 33
192 SPP005 Suppurative Thyroiditis 33
193 ACD001 Acidophil Adenoma 32
194 c SHR032 Short Qt Syndrome 2 32
195 NNT010 Nontoxic Goiter 32
196 HYP029 Hyperthyroxinemia 32
197 PST014 Postsurgical Hypothyroidism 32
198 PTT010 Pituitary Infarct 32
199 ADN075 Adenomyoma 32
200 c LCL022 Localized Lipodystrophy 32
201 LTM002 Luteoma 31
202 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 31
203 THY001 Thyroid Crisis 30
204 c TYP056 Type 1 Diabetes Mellitus 23 30
205 c TYP036 Type 1 Diabetes Mellitus 12 29
206 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
207 c OVR076 Ovarian Dysgenesis 2 28
208 c ACT053 Acute Thyroiditis 28
209 NNT003 Neonatal Thyrotoxicosis 28
210 OVR057 Ovarian Serous Adenofibroma 27
211 c 46X048 46,xx Sex Reversal 2 27
212 OVR002 Ovarian Serous Cystadenofibroma 26
213 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 26
214 PNH005 Panhypopituitarism, X-Linked 26
215 SBS002 Substernal Goiter 26
216 c TYP035 Type 1 Diabetes Mellitus 11 26
217 CRP004 Corpus Luteum Cyst 25
218 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
219 c ATM014 Autoimmune Disease of Endocrine System 24
220 IDN001 Iodine Hypothyroidism 24
221 c PRM091 Premature Ovarian Failure 2b 24
222 c ATM067 Autoimmune Polyendocrinopathy Type 3 24
223 TXC004 Toxic Diffuse Goiter 23
224 c OVR107 Ovarian Dysgenesis 4 23
225 PLY115 Polyendocrine-Polyneuropathy Syndrome 23
226 P SLP004 Salpingo-Oophoritis 23
227 ENC002 Eunuchism 23
228 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 23
229 c OVR102 Ovarian Dysgenesis 3 23
230 c 46X056 46,xy Sex Reversal 5 23
231 ATR009 Atrophy of Testis 22
232 LNG018 Lingual Goiter 22
233 PDT003 Pediatric Ovarian Dysgerminoma 22
234 MDL001 Medulloadrenal Hyperfunction 22
235 MCN010 Mucinous Cystadenofibroma 21
236 c ATM066 Autoimmune Polyendocrinopathy Type 4 21
237 c CHR018 Chronic Salpingo-Oophoritis 21
238 c OVR119 Ovarian Dysgenesis 7 21
239 c TFR001 Tfr2-Related Hereditary Hemochromatosis 21
240 OVR056 Ovarian Primitive Germ Cell Tumor 20
241 c OVR115 Ovarian Dysgenesis 5 20
242 THY021 Thyroid Malformation 20
243 DYS008 Dyshormonogenic Goiter 20
244 THY020 Thyroid Hyalinizing Trabecular Adenoma 20
245 c PRM191 Premature Ovarian Failure 9 19
246 c OVR120 Ovarian Dysgenesis 8 19
247 NNC019 Non-Acquired Panhypopituitarism 19
248 ATY007 Atypical Follicular Adenoma 19
249 CLL011 Colloid Adenoma 19
250 P PRM176 Premature Ovarian Failure 2a 19
251 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 18
252 PRM331 Primary Hypophysitis 18
253 LTN011 Late-Onset Isolated Acth Deficiency 17
254 BMF002 Bamforth Syndrome 17
255 c OVR118 Ovarian Dysgenesis 6 17
256 FRM001 Freemartinism 17
257 c TYP051 Type 2 Diabetes Mellitus 4 17
258 c PRM344 Premature Ovarian Failure 16 17
259 RDL003 Riedel's Fibrosing Thyroiditis 16
260 ABN002 Abnormality of Glucagon Secretion 16
261 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 15
262 c KLL005 Kallmann Syndrome 3 15
263 OVR037 Ovarian Solid Teratoma 15
264 c GTR013 Goiter, Multinodular 2 15
265 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 14
266 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
267 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 13
268 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
269 CLR006 Clear Cell Cystadenofibroma 13
270 INH007 Inherited Thyroxine-Binding Globulin Deficiency 13
271 c KLL008 Kallmann Syndrome 6 12
272 BRS039 Breast Fibroadenosis 12
273 c ATM057 Autoimmune Thyroid Disease 2 12
274 c GTR014 Goiter, Multinodular 3 12
275 c PRM349 Premature Ovarian Failure 18 11
276 PST112 Post-Traumatic Pituitary Deficiency 11
277 IDP061 Idiopathic Congenital Hypothyroidism 10
278 NLL003 Null Pituitary Adenoma 10
279 GNT039 Genetic Transient Congenital Hypothyroidism 8
280 OVR038 Ovarian Fetiform Teratoma 8
281 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 8
282 P OVR053 Ovarian Mucinous Adenofibroma 8
283 IDN004 Iodine Antenatal Exposure 8
284 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
285 SYN101 Syndromic Hypothyroidism 6
286 PST024 Post-Surgical Hypoinsulinemia 6
287 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
288 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
289 OVR007 Ovarian Endometrioid Cystadenoma 5
290 c PRM362 Primary Ovarian Insufficiency 13 5
291 c PRM350 Primary Ovarian Insufficiency 2a 4
292 c PRM351 Primary Ovarian Insufficiency 2b 4
293 c PRM360 Primary Ovarian Insufficiency 11 4
294 c PRM363 Primary Ovarian Insufficiency 14 4
295 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
296 DZX003 Diazoxide-Resistant Diffuse Hyperinsulinism 4
297 CHN078 Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome 4
298 THY002 Thyrocalcitonin Secretion Disease 4
299 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
300 CNG594 Congenital Thyroid Malformation Without Hypothyroidism 4
301 P 46X065 46,xy Disorder of Gonadal Development 3
302 MLT176 Multiple Polyglandular Tumor 3
303 c 46X067 46,xx Disorder of Gonadal Development 3
304 SWT002 Sweat Gland Cancer 41
305 PNL014 Pineal Gland Cancer 40
306 BRT016 Bartholin's Gland Carcinoma 26
307 PRT009 Parotid Gland Cancer 33
308 BRT015 Bartholin's Gland Adenocarcinoma 29
309 ANL012 Anal Gland Adenocarcinoma 23
310 P MCK013 Meckel Syndrome, Type 1 64
311 P SLV026 Salivary Gland Carcinoma 58
312 c MCK032 Meckel Syndrome, Type 3 49
313 c MCK030 Meckel Syndrome, Type 7 49
314 c MCK033 Meckel Syndrome, Type 4 47
315 c MCK012 Meckel Syndrome, Type 6 46
316 c MCK031 Meckel Syndrome, Type 2 45
317 c MCK014 Meckel Syndrome, Type 5 45
318 c MCK034 Meckel Syndrome, Type 8 42
319 SBM004 Submandibular Gland Cancer 30
320 MXD003 Mixed Lacrimal Gland Cancer 30
321 c MCK035 Meckel Syndrome, Type 10 25
322 c MCK028 Meckel Syndrome 13 25
323 c MCK026 Meckel Syndrome 12 24
324 c MCK036 Meckel Syndrome, Type 9 24
325 c MCK020 Meckel Syndrome, Type 11 23
326 APC004 Apocrine Adenocarcinoma 37
327 SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 15
328 SBC011 Sebaceous Adenocarcinoma 43
329 ACN026 Acinar Cell Carcinoma of Pancreas 27
330 SBL001 Sublingual Gland Cancer 9
331 LCR007 Lacrimal Gland Squamous Cell Carcinoma 8
332 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 10
333 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 33
334 MRT009 Martinez-Frias Syndrome 21
335 LCR009 Lacrimal Gland Adenocarcinoma 20
336 BRT003 Bartholin's Gland Small Cell Carcinoma 7
337 P PNB001 Pineoblastoma 49
338 GST051 Gastrointestinal Tuberculosis 36
339 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
340 SBC018 Sebaceous Gland Neoplasm 30
341 c ADL025 Adult Pineoblastoma 20
342 APC009 Apocrine Gland Secretion, Variation in 19
343 RRT002 Rare Tumor of Pancreas 14
344 TNG006 Tunglang Savage Bellman Syndrome 14
345 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
346 RRC013 Rare Carcinoma of Pancreas 7
347 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
348 c DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
349 P NTR004 Neutropenia 63
350 c SVR003 Severe Congenital Neutropenia 59
351 ADN018 Adenoma 59
352 ADR038 Adermatoglyphia 51
353 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
354 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
355 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
356 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
357 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 34
358 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
359 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
360 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
361 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
362 STR088 Stratton-Parker Syndrome 21
363 c NTR045 Neutropenia, Chronic Familial 21
364 c SVR107 Severe Congenital Neutropenia 3 20
365 c SVR103 Severe Congenital Neutropenia 1 20
366 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
367 P HRD221 Hereditary Nephrogenic Diabetes Insipidus 17
368 c SVR110 Severe Congenital Neutropenia 4 15
369 c SVR106 Severe Congenital Neutropenia 5 14
370 c ELN001 Elane-Related Neutropenia 13
371 c ACQ053 Acquired Neutropenia 12
372 c SVR105 Severe Congenital Neutropenia 2 11
373 SLV032 Salivary Gland Mucinous Adenocarcinoma 10
374 c SVR108 Severe Congenital Neutropenia 6 9
375 c SVR104 Severe Congenital Neutropenia 7 8
376 CWP002 Cowper Gland Carcinoma 7
377 P ECT006 Ectodermal Dysplasia 63
378 P ACN011 Acne 57
379 P MLN007 Male Infertility 56
380 CYS014 Cystadenocarcinoma 51
381 ADN009 Adenosquamous Carcinoma 48
382 MCP006 Mucoepidermoid Carcinoma 48
383 MXD023 Mixed Cell Type Cancer 44
384 ANL011 Anal Canal Carcinoma 39
385 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 33
386 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 33
387 ENT006 Enterokinase Deficiency 33
388 ADN014 Adenomatoid Tumor 30
389 APC005 Apocrine Sweat Gland Neoplasm 29
390 ECC008 Eccrine Sweat Gland Neoplasm 26
391 ECC007 Eccrine Sweat Gland Cancer 23
392 ACN007 Acinar Cell Cystadenocarcinoma 20
393 c ECT114 Ectodermal Dysplasia 10b 18
394 c FML266 Female Infertility Due to Zona Pellucida Defect 18
395 c MLN078 Male Infertility Due to Acephalic Spermatozoa 16
396 c MLN081 Male Infertility Due to Sperm Motility Disorder 13
397 c SVR109 Severe Congenital Neutropenia 8 11
398 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
399 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 9
400 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 8
401 c ACN029 Acne, Adult 7
402 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
403 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
404 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
405 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
406 c RRM015 Rare Male Infertility 7
407 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
408 P RRF012 Rare Female Infertility 6
409 RRP030 Rare Pancreatic Disease 6
410 MLG134 Malignant Epithelial Tumor of Salivary Glands 6
411 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
412 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
413 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 6
414 c MLN082 Male Infertility Due to Sperm Disorder 6
415 FRS005 Fraser Jequier Chen Syndrome 5
416 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
417 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
418 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
419 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
420 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
421 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
422 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
423 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
424 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
425 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
426 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
427 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
428 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
429 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
430 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
431 P OVR042 Ovarian Cancer 88
432 ADR007 Adrenoleukodystrophy 73
433 P LFR001 Li-Fraumeni Syndrome 73
434 c BTT014 Beta-Thalassemia 72
435 ACR007 Acromegaly 70
436 c TYP008 Type 1 Diabetes Mellitus 70
437 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 69
438 P MYC084 Mycobacterium Tuberculosis 1 68
439 c CNG411 Congenital Disorder of Glycosylation, Type in 67
440 P DBT009 Diabetes Mellitus 67
441 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 66
442 P BRD002 Bardet-Biedl Syndrome 66
443 P SHW006 Shwachman-Diamond Syndrome 1 66
444 P CMP005 Campomelic Dysplasia 65
445 HYP056 Hypoglycemia 65
446 P THR117 Three M Syndrome 1 65
447 P ADN016 Adenocarcinoma 63
448 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63
449 P ACT010 Acth-Secreting Pituitary Adenoma 61
450 P PRD006 Prader-Willi Syndrome 61
451 P HYP818 Hypobetalipoproteinemia, Familial, 1 60
452 NRN004 Neuroendocrine Tumor 59
453 c CRP023 Carpenter Syndrome 1 59
454 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 59
455 P SHR029 Short Syndrome 58
456 CRY035 Cryptorchidism, Unilateral or Bilateral 58
457 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
458 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58
459 PRM013 Premature Menopause 58
460 STF001 Stiff-Person Syndrome 58
461 CHR072 Chordoma 57
462 OVR012 Ovarian Serous Cystadenocarcinoma 55
463 P HYP024 Hypoparathyroidism 55
464 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 55
465 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 55
466 PTT041 Pituitary Stalk Interruption Syndrome 54
467 SMT008 Smith-Magenis Syndrome 54
468 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
469 c CNT075 Central Precocious Puberty 53
470 PTT009 Pituitary Gland Disease 53
471 P STS003 Sitosterolemia 53
472 P HYP730 Hypogonadotropic Hypogonadism 53
473 P OVR049 Ovarian Disease 52
474 ACT238 Acth Deficiency, Isolated 52
475 HYP741 Hyperparathyroidism 2 with Jaw Tumors 51
476 P HMG032 Hemoglobin H Disease 51
477 P MYT002 Myotonic Dystrophy 51
478 MNN042 Meningioma, Radiation-Induced 51
479 THY029 Thyroid Carcinoma 51
480 THY030 Thyroid Gland Disease 50
481 c HLP025 Holoprosencephaly 9 50
482 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
483 c HLP027 Holoprosencephaly 7 49
484 c 46X049 46,xy Sex Reversal 2 49
485 PRS129 Prostatic Hyperplasia, Benign 49
486 P BRS053 Breast Fibroadenoma 49
487 c BRD018 Bardet-Biedl Syndrome 6 49
488 c PTT057 Pituitary Adenoma 4, Acth-Secreting 48
489 P PRC019 Precocious Puberty 47
490 P LSS036 Lissencephaly, X-Linked, 1 47
491 P GND004 Gonadal Dysgenesis 47
492 ANV001 Anovulation 47
493 c HYP837 Hypercholesterolemia, Familial, 2 46
494 ADR040 Adrenal Gland Pheochromocytoma 46
495 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 46
496 c BRD047 Bardet-Biedl Syndrome 16 46
497 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 46
498 MLL011 Mullerian Aplasia and Hyperandrogenism 45
499 c TYP028 Type 1 Diabetes Mellitus 2 45
500 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 45
501 PRT030 Parathyroid Gland Disease 45
502 P END084 Endocrine System Disease 44
503 ADR012 Adrenal Gland Disease 44
504 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 44
505 P DSR090 Disorder of Sexual Development 44
506 DYS101 Dysgerminoma 44
507 TBR006 Tuberculoid Leprosy 43
508 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 43
509 c BRD033 Bardet-Biedl Syndrome 13 43
510 THY009 Thyroid Lymphoma 43
511 c ADN012 Adenocarcinoma in Situ 43
512 P HYP121 Hypoalphalipoproteinemia 43
513 FNC007 Functioning Pituitary Adenoma 42
514 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 42
515 PRS042 Prostate Disease 42
516 EXC002 Exocrine Pancreatic Insufficiency 42
517 P PRT026 Parotitis 42
518 46X012 46,xy Partial Gonadal Dysgenesis 41
519 FLL031 Follicular Adenoma 40
520 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40
521 OVR034 Ovarian Clear Cell Adenocarcinoma 39
522 ISL114 Isolated Growth Hormone Deficiency, Type Ii 39
523 HRT040 Hirata Disease 38
524 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 38
525 c BRD017 Bardet-Biedl Syndrome 5 38
526 HYP835 Hypothalamic Obesity 38
527 ALC005 Alcoholic Pancreatitis 38
528 HYP085 Hypothalamic Disease 38
529 EST004 Estrogen Excess 38
530 DYS017 Dysgerminoma of Ovary 37
531 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 37
532 ADR009 Adrenal Cortex Disease 36
533 OBS067 Obesity Due to Melanocortin 4 Receptor Deficiency 36
534 OVR051 Ovarian Endodermal Sinus Tumor 36
535 SPT016 Septopreoptic Holoprosencephaly 36
536 c CNT101 Central Congenital Hypothyroidism 36
537 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 36
538 PTT001 Pituitary Hypoplasia 34
539 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 34
540 c STS011 Sitosterolemia 2 34
541 ATH010 Athyreosis 34
542 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 34
543 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 33
544 TST010 Testicular Spermatocytic Seminoma 33
545 c BNG029 Benign Struma Ovarii 33
546 MLR009 Miliaria 33
547 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 33
548 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 33
549 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
550 OPT032 Optic Pathway Glioma 33
551 FML168 Familial Isolated Pituitary Adenoma 32
552 c PRM316 Primary Congenital Hypothyroidism 32
553 THY108 Thymic Neuroendocrine Tumor 32
554 OVR109 Ovarian Germ Cell Teratoma 32
555 c THR069 Three M Syndrome 2 32
556 EXT054 Extra-Adrenal Pheochromocytoma 32
557 LYM043 Lymphocytic Hypophysitis 31
558 ADR010 Adrenal Cortical Hypofunction 31
559 P PLY188 Polyendocrinopathy 31
560 THY098 Thyroid Ectopia 31
561 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 30
562 48X003 48,xxyy Syndrome 30
563 c ATM068 Autoimmune Hypoparathyroidism 30
564 OVR017 Ovarian Cystic Teratoma 29
565 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
566 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 29
567 PTT016 Patterson Pseudoleprechaunism Syndrome 28
568 TST020 Testis Seminoma 28
569 CYS015 Cystadenofibroma 28
570 c BRD050 Bardet-Biedl Syndrome 21 28
571 DRM005 Dermoid Cyst of Ovary 28
572 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
573 THY039 Thyrotropin-Releasing Hormone Deficiency 28
574 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
575 BSP001 Basophil Adenoma 28
576 OVR009 Ovarian Gonadoblastoma 27
577 THY004 Thyroid Angiosarcoma 27
578 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 27
579 MCR014 Microcystic Adenoma 27
580 SYN116 Syndromic Obesity 27
581 IND004 Indeterminate Leprosy 27
582 SBC005 Subacute Lymphocytic Thyroiditis 27
583 48X001 48, Xxxx 27
584 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
585 FNC050 Functioning Gonadotropic Adenoma 26
586 c TYP031 Type 1 Diabetes Mellitus 5 26
587 c 46X047 46,xy Sex Reversal 7 26
588 PRM315 Permanent Congenital Hypothyroidism 26
589 c SHW007 Shwachman-Diamond Syndrome 2 26
590 PNC028 Pancreatic Steatorrhea 26
591 CRT065 Cortisone Reductase Deficiency 1 25
592 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 25
593 NNN001 Nonencapsulated Sclerosing Carcinoma 25
594 c THY110 Thyroid Dyshormonogenesis 6 25
595 GGN004 Gigantomastia 25
596 MTR011 Mature Teratoma of the Ovary 25
597 HYP344 Hyperthyroidism, Familial Gestational 24
598 c HYP819 Hyperlipoproteinemia, Type Id 24
599 OVR021 Ovarian Lymphoma 24
600 FTL062 Fetal Iodine Deficiency Disorder 24
601 END038 Endocrine Pancreas Disease 24
602 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 23
603 c THR096 Three M Syndrome 3 23
604 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 23
605 P GNR008 Generalized Resistance to Thyroid Hormone 23
606 c HYP857 Hypothyroidism, Congenital, Nongoitrous, 8 23
607 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 23
608 c NPH111 Nephrotic Syndrome, Type 21 23
609 c PRC047 Precocious Puberty, Central, 1 23
610 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
611 c PRR026 Perrault Syndrome 5 22
612 c THY062 Thyroid Dyshormonogenesis 5 22
613 c PRC046 Precocious Puberty, Central, 2 22
614 CHF001 Chief Cell Adenoma 22
615 c TRN047 Transient Congenital Hypothyroidism 22
616 MCN003 Mucinous Ovarian Cystadenoma 21
617 c NPH093 Nephrotic Syndrome, Type 13 21
618 c ATM050 Autoimmune Thyroid Disease 3 21
619 c TYP033 Type 1 Diabetes Mellitus 7 21
620 TST007 Testicular Infarct 21
621 c TYP032 Type 1 Diabetes Mellitus 6 21
622 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
623 NNN035 Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome 21
624 c TYP030 Type 1 Diabetes Mellitus 4 21
625 c HYP858 Hypothyroidism, Congenital, Nongoitrous, 9 20
626 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 20
627 P SYN140 Syndrome with 46,xy Disorder of Sex Development 20
628 c TYP037 Type 1 Diabetes Mellitus 13 20
629 HYP645 Hyperthyroxinemia, Dystransthyretinemic 20
630 TST005 Testicular Gonadoblastoma 20
631 c 46X011 46, Xy Disorders of Sexual Development 20
632 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
633 FML019 Familiar Ovarian Carcinoma 20
634 PNH004 Panhypophysitis 20
635 BNG086 Bangstad Syndrome 20
636 NNF008 Non-Functioning Paraganglioma 19
637 c MLT120 Multiple Fibroadenomas of the Breast 19
638 GRN002 Granulomatous Orchitis 19
639 c PRM292 Premature Ovarian Failure 14 19
640 c PRM253 Premature Ovarian Failure 13 19
641 MYT025 Myotubular Myopathy with Abnormal Genital Development 19
642 c THY101 Thyroid Cancer, Nonmedullary, 5 18
643 MYP026 Myopathy - Thyrotoxic 18
644 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
645 c CRN298 Carney Complex, Type 2 18
646 OVR001 Ovarian Stromal Hyperthecosis 18
647 GRF006 Grfoma 17
648 TST040 Testicular Trophoblastic Tumor 17
649 OBS060 Obesity Due to Sim1 Deficiency 17
650 PRP107 Peripheral Hypothyroidism 17
651 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 17
652 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 16
653 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
654 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
655 P RSS029 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha 16
656 6Q1002 6q16 Microdeletion Syndrome 15
657 GLL034 Gallbladder Neuroendocrine Tumor 15
658 MXD024 Mixed Epithelial Tumor of Ovary 15
659 c NPH114 Nephrotic Syndrome, Type 22 15
660 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15
661 46X015 46,xy Ovotesticular Disorder of Sex Development 15
662 P PRM210 Primary Lipodystrophy 15
663 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
664 PRT021 Parathyroid Transitional Clear Cell Adenoma 14
665 BSP005 Basophilic Adenocarcinoma 14
666 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 14
667 c GRV009 Graves Disease 2 14
668 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
669 PDT046 Pediatric-Onset Graves Disease 14
670 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 14
671 OVR039 Ovarian Mesodermal Adenosarcoma 14
672 TST041 Testicular Germ Cell Tumor Non-Seminomatous 14
673 PRM146 Primary Unilateral Adrenal Hyperplasia 13
674 INF124 Infundibulo-Neurohypophysitis 13
675 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 12
676 TST019 Testis Sarcoma 12
677 c KLL006 Kallmann Syndrome 4 12
678 GNT041 Genetic Lipodystrophy 12
679 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 11
680 c ACT031 Acute Salpingo-Oophoritis 11
681 c DSR027 Disorders of Vitamin D Metabolism 11
682 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 11
683 PTT069 Pituitary Deficiency Due to Rathke Cleft Cysts 10
684 SXC004 Sex Chromosome Disorder of Sex Development 10
685 PPL010 Papillary Follicular Thyroid Adenocarcinoma 10
686 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 10
687 OVR031 Ovarian Papillary Cystadenoma 10
688 PNN006 Panniculitis-Induced Localized Lipodystrophy 10
689 c SCN039 Secondary Central Precocious Puberty 10
690 TRB001 Trabecular Follicular Adenocarcinoma 9
691 OVR008 Ovarian Mucinous Cystadenofibroma 9
692 c RRH008 Rare Hyperthyroidism 9
693 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8
694 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
695 TST011 Testis Rhabdomyosarcoma 8
696 XLN248 X-Linked Adrenal Hypoplasia Congenita Due to a Nr0b1 Point Mutation 8
697 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
698 PNC026 Pancreatic Mucinous Ductal Ectasia 7
699 c RRP025 Rare Precocious Puberty 7
700 c RRH010 Rare Hypoparathyroidism 7
701 RRP032 Rare Parathyroid Tumor 7
702 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
703 OVR032 Ovarian Surface Papilloma 7
704 c PRT125 Parotitis, Juvenile Recurrent 6
705 P RRH006 Rare Hyperlipidemia 6
706 CHL063 Childhood Teratoma of the Ovary 6
707 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
708 CHL011 Childhood Immature Teratoma of Ovary 6
709 DZX005 Diazoxide-Resistant Hyperinsulinism 6
710 GST003 Gastrin Secretion Abnormality 6
711 PLY009 Polyembryoma of the Ovary 5
712 DZX004 Diazoxide-Sensitive Diffuse Hyperinsulinism 5
713 MKT001 Mikati-Najjar-Sahli Syndrome 5
714 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 5
715 OVR014 Ovarian Clear Cell Cystadenofibroma 5
716 ADR006 Adrenal Gland Ganglioneuroblastoma 5
717 c RRH005 Rare Hypoaldosteronism 5
718 MXD004 Mixed Eosinophil-Basophil Adenoma 5
719 c PRM366 Primary Ovarian Insufficiency 17 5
720 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
721 TST042 Testicular Pure Germ Cell Tumor 5
722 TBL005 Tubular Variant Testicular Seminoma 5
723 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
724 CRB003 Cribriform Variant Testicular Seminoma 5
725 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
726 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
727 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
728 PSD013 Pseudoglandular Variant Testicular Seminoma 5
729 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
730 NNC016 Non-Acquired Premature Ovarian Failure 5
731 ACQ065 Acquired Pituitary Hormone Deficiency 5
732 P RRN005 Rare Insulin-Resistance Syndrome 5
733 PHP002 Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome 5
734 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
735 PRT020 Parathyroid Oncocytic Adenoma 4
736 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
737 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
738 MXD048 Mixed Functioning Pituitary Adenoma 4
739 c PRM352 Primary Ovarian Insufficiency 3 4
740 c PRM353 Primary Ovarian Insufficiency 4 4
741 c PRM354 Primary Ovarian Insufficiency 5 4
742 c PRM357 Primary Ovarian Insufficiency 8 4
743 c PRM364 Primary Ovarian Insufficiency 15 4
744 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
745 NNR001 Non-Renal Secondary Hyperparathyroidism 4
746 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
747 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
748 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
749 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
750 NNC017 Non-Acquired Pituitary Hormone Deficiency 4
751 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
752 c RRD014 Rare Adult Hypothyroidism 4
753 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
754 RRH003 Rare Hypothalamic or Pituitary Disease 3
755 OBS083 Obesity Due to Congenital Leptin Resistance 3
756 RRS009 Rare Surgically Correctable Form of Primary Aldosteronism 3
757 RRN011 Rare Non Surgically Correctable Form of Primary Aldosteronism 3
758 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
759 GNT051 Genetic Non-Syndromic Obesity 3
760 PTT066 Pituitary Hormone Deficiency of Meningeal Origin 3
761 PTT067 Pituitary Hormone Deficiency of Tumoral Origin 3
762 c ACQ068 Acquired Chronic Primary Adrenal Insufficiency 3
763 c FRG005 Fragile X Syndrome Type 2 3
764 RRS005 Rare Syndromic Dyslipidemia 3
765 OTH013 Other Rare Diabetes Mellitus 3
766 RRD020 Rare Disease with Cushing Syndrome As a Major Feature 3
767 RRN018 Rare Endocrine Growth Disease 3
768 ADR058 Adrenal/paraganglial Tumor 3
769 MLN047 Melanoma-Pancreatic Cancer Syndrome 28
770 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 29
771 IMM177 Immunodeficiency 54 44
772 c PRG018 Paragangliomas 1 59
773 c PRG020 Paragangliomas 3 39
774 c PRG021 Paragangliomas 4 37
775 c PRG019 Paragangliomas 2 30
776 c PRG094 Paragangliomas 5 28
777 c PRG137 Paragangliomas 6 20
778 c PRG138 Paragangliomas 7 18
779 IGG007 Igg4-Related Disease 48
780 WTK002 Witkop Syndrome 43
781 ECC001 Eccrine Papillary Adenocarcinoma 30
782 WBB001 Webb-Dattani Syndrome 23
783 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 13
784 c TYP009 Type 2 Diabetes Mellitus 92
785 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80
786 CNN003 Conn's Syndrome 79
787 INS024 Insulin-Like Growth Factor I 78
788 VNH007 Von Hippel-Lindau Syndrome 73
789 c FML021 Familial Hypercholesterolemia 72
790 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
791 P HYP086 Hypothyroidism 69
792 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
793 P KLL001 Kallmann Syndrome 65
794 CHY002 Chylomicron Retention Disease 64
795 OVR029 Ovarian Hyperstimulation Syndrome 63
796 HYP020 Hyperprolactinemia 63
797 c CNG006 Congenital Hypothyroidism 63
798 LRN002 Laron Syndrome 63
799 DGR001 Digeorge Syndrome 62
800 SPT006 Septooptic Dysplasia 62
801 P WLF004 Wolfram Syndrome 61
802 PRC038 Precocious Puberty, Male-Limited 61
803 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 60
804 HSH003 Hashimoto Thyroiditis 60
805 c ACT027 Acute Pancreatitis 60
806 HMZ003 Homozygous Familial Hypercholesterolemia 60
807 CFF002 Coffin-Lowry Syndrome 60
808 THY122 Thyroid Gland Cancer 59
809 c PRM196 Premature Ovarian Failure 1 59
810 c OVR114 Ovarian Cancer 1 59
811 P CLS054 Classic Ehlers-Danlos Syndrome 57
812 c HLP023 Holoprosencephaly 1 56
813 P GRV001 Graves' Disease 55
814 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 55
815 c FML035 Familial Hyperlipidemia 55
816 CMP034 Complete Androgen Insensitivity Syndrome 55
817 THY123 Thyroid Gland Follicular Carcinoma 55
818 ALL001 Allan-Herndon-Dudley Syndrome 54
819 P FML012 Familial Partial Lipodystrophy 54
820 P DBT005 Diabetes Insipidus 54
821 c GRV008 Graves Disease 1 54
822 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54
823 c HYP739 Hyperlipoproteinemia, Type Iv 53
824 c HYP740 Hyperlipoproteinemia, Type V 53
825 P VTM027 Vitamin D-Dependent Rickets, Type 2a 53
826 c BRD014 Bardet-Biedl Syndrome 2 53
827 P HYP083 Hypopituitarism 52
828 ACD008 Acid-Labile Subunit Deficiency 52
829 P PRS049 Persistent Mullerian Duct Syndrome 52
830 TST014 Testicular Cancer 52
831 DFF036 Differentiated Thyroid Carcinoma 51
832 PNC041 Pancreatic Ductal Adenocarcinoma 51
833 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 51
834 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 51
835 PRT029 Parathyroid Adenoma 51
836 c BRD012 Bardet-Biedl Syndrome 11 51
837 c SCN007 Secondary Hyperparathyroidism 51
838 c GLC111 Galactosemia Ii 50
839 LPT006 Leptin Receptor Deficiency 50
840 c HYP843 Hypoalphalipoproteinemia, Primary, 2 50
841 GLC042 Glucocorticoid Deficiency 1 50
842 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 49
843 ADR041 Adrenal Cortical Adenoma 49
844 c HLP024 Holoprosencephaly 2 49
845 P FML362 Familial Isolated Hypoparathyroidism 48
846 PNC013 Pancreatic Ductal Carcinoma 48
847 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 48
848 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 48
849 c ACT150 Acute Adrenal Insufficiency 48
850 SML028 Semilobar Holoprosencephaly 48
851 c PRM093 Premature Ovarian Failure 7 48
852 LBR025 Lobar Holoprosencephaly 47
853 NRN001 Neuroendocrine Carcinoma 47
854 P OVR046 Ovarian Cyst 46
855 c HYP840 Hypercholesterolemia, Familial, 4 46
856 PTT008 Pituitary Carcinoma 46
857 c STS010 Sitosterolemia 1 46
858 GLC036 Glucagonoma 46
859 ALB014 Alobar Holoprosencephaly 46
860 TST044 Testicular Torsion 45
861 c NNN011 Noonan Syndrome 4 45
862 ECT093 Ectopic Cushing Syndrome 45
863 SHH001 Sheehan Syndrome 45
864 STT007 Steatocystoma Multiplex 44
865 CRN055 Carney Triad 44
866 BSM002 Bosma Arhinia Microphthalmia Syndrome 44
867 NLS001 Nelson Syndrome 44
868 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 43
869 c SBC007 Subacute Thyroiditis 43
870 c FML294 Familial Short Qt Syndrome 43
871 c BRD019 Bardet-Biedl Syndrome 7 43
872 P PNC045 Pancreatic Agenesis 43
873 c 46X030 46,xy Sex Reversal 9 43
874 c NNN013 Noonan Syndrome 6 42
875 ECC004 Eccrine Porocarcinoma 42
876 EMP001 Empty Sella Syndrome 42
877 c HMG003 Hemoglobin E Disease 42
878 TRP009 Triple X Syndrome 41
879 c HMG001 Hemoglobin C Disease 41
880 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
881 P HYP347 Hypotonia-Cystinuria Syndrome 41
882 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 40
883 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 40
884 c CNG379 Congenital Disorder of Glycosylation, Type It 39
885 APL017 Apolipoprotein C-Ii Deficiency 39
886 c PLY105 Polycystic Ovary Syndrome 1 39
887 NNF007 Non-Functioning Pituitary Adenoma 39
888 c OVR058 Ovarian Small Cell Carcinoma 39
889 TST018 Testicular Yolk Sac Tumor 39
890 c TYP053 Type 1 Diabetes Mellitus 20 39
891 END011 Endometriosis of Ovary 39
892 CRT046 Corticosteroid-Binding Globulin Deficiency 38
893 PNC019 Pancreatoblastoma 38
894 c PRM340 Primary Adrenal Insufficiency 38
895 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 38
896 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 38
897 HYP856 Hypothyroidism, Central, with Testicular Enlargement 37
898 c CNG504 Congenital Disorder of Glycosylation, Type Iip 37
899 c BRD045 Bardet-Biedl Syndrome 19 37
900 c NNN012 Noonan Syndrome 5 37
901 CHR525 Chromosome Xq26.3 Duplication Syndrome 37
902 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 37
903 ISL125 Isolated Growth Hormone Deficiency Type Iii 37
904 c LYD012 Leydig Cell Hypoplasia, Type I 37
905 LPS020 Lipase Deficiency, Combined 36
906 c LSS037 Lissencephaly, X-Linked, 2 36
907 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 36
908 THY069 Thyroid Hormone Resistance, Selective Pituitary 36
909 DNC004 Diencephalic Syndrome 36
910 ANR018 Anorchia 36
911 OVR015 Ovarian Mixed Germ Cell Neoplasm 36
912 c SCN052 Secondary Adrenal Insufficiency 36
913 P HYP120 Hypoaldosteronism 35
914 WTR001 Waterhouse-Friderichsen Syndrome 35
915 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 35
916 CHR034 Chromophobe Adenoma 35
917 P MXD016 Mixed Gonadal Dysgenesis 35
918 IMM005 Immature Teratoma of Ovary 35
919 RCT005 Rectum Neuroendocrine Neoplasm 35
920 UVP001 Uveoparotid Fever 34
921 P SYN165 Syndromic Microphthalmia 34
922 CRT020 Cortisone Reductase Deficiency 34
923 MCH011 Meacham Syndrome 34
924 MLG048 Malignant Acrospiroma 33
925 c HMG004 Hemoglobin D Disease 33
926 SPR018 Spermatocytoma 33
927 c LPD036 Lipodystrophy, Familial Partial, Type 6 33
928 OVR026 Ovary Transitional Cell Carcinoma 32
929 PRL010 Prolactin Producing Pituitary Tumor 32
930 c LPD040 Lipodystrophy, Familial Partial, Type 1 32
931 ADR023 Adrenomyodystrophy 32
932 OVR013 Ovarian Mucinous Cystadenocarcinoma 32
933 ADR057 Adrenogenital Syndrome 32
934 GBL002 Goblet Cell Carcinoid 32
935 P CNT037 Central Nervous System Germinoma 32
936 c TYP054 Type 1 Diabetes Mellitus 21 32
937 c PTT061 Pituitary Adenoma 3, Multiple Types 31
938 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 31
939 c NPH047 Nephrotic Syndrome, Type 4 31
940 c THY071 Thyroid Dyshormonogenesis 1 31
941 P KNN002 Kenny-Caffey Syndrome 31
942 PNC002 Pancreatic Mucinous Cystadenoma 31
943 CHR075 Choriocarcinoma of Ovary 31
944 OVR123 Ovarian Seromucinous Carcinoma 30
945 DCR010 Dicer1 Tumor Predisposition 30
946 c BRD051 Bardet-Biedl Syndrome 20 30
947 HYP611 Hypoparathyroidism, X-Linked 30
948 OVR041 Ovarian Benign Neoplasm 30
949 GNT167 Genetic Obesity 30
950 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
951 PNC027 Pancreatic Gastrinoma 30
952 P THY061 Thyroid Dyshormonogenesis 2a 30
953 BRN137 Bronchial Neuroendocrine Tumor 29
954 HMT001 Hematocele of Tunica Vaginalis Testis 29
955 c PRR021 Perrault Syndrome 4 29
956 c MLG053 Malignant Ovarian Brenner Tumor 29
957 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
958 c CNG608 Congenital Hypopituitarism 29
959 PNC009 Pancreas Sarcoma 29
960 PTT044 Pituitary Hormone Deficiency, Combined, 4 29
961 BRD005 Borderline Leprosy 28
962 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 28
963 c 46X017 46,xy Sex Reversal 6 27
964 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
965 IDP034 Idiopathic Central Precocious Puberty 27
966 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 27
967 GLC043 Glucocorticoid Deficiency 2 27
968 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 27
969 TLL001 Tall Cell Variant Papillary Carcinoma 27
970 c FML275 Familial Hypoaldosteronism 26
971 GRW026 Growth Hormone Insensitivity, Partial 26
972 PNC038 Pancreatic Cystadenocarcinoma 26
973 c THY063 Thyroid Dyshormonogenesis 4 26
974 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 26
975 LCT003 Lactocele 26
976 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 26
977 SLN005 Silent Pituitary Adenoma 25
978 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 25
979 c ACQ043 Acquired Lipodystrophy 25
980 c HYP720 Hyperparathyroidism 4 25
981 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
982 OVR061 Ovary Sarcoma 25
983 KWR001 Kowarski Syndrome 25
984 GNT043 Genitopalatocardiac Syndrome 25
985 c PRM090 Premature Ovarian Failure 6 25
986 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 24
987 P OVR045 Ovarian Clear Cell Adenofibroma 24
988 c TYP058 Type 2 Diabetes 5 24
989 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
990 c PRM207 Premature Ovarian Failure 10 24
991 MTC025 Mitochondrial Myopathy with Diabetes 24
992 END036 Endocrine Organ Benign Neoplasm 24
993 ANS010 Anus Adenocarcinoma 24
994 c HRD156 Hereditary Central Diabetes Insipidus 24
995 SCN001 Secondary Hyperparathyroidism of Renal Origin 24
996 c PRM089 Premature Ovarian Failure 3 24
997 c TYP039 Type 1 Diabetes Mellitus 17 24
998 c PRM094 Premature Ovarian Failure 5 24
999 c NPH105 Nephrotic Syndrome, Type 17 24
1000 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 24
1001 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 23
1002 PNC031 Pancreatic Foamy Gland Adenocarcinoma 23
1003 c PRM254 Premature Ovarian Failure 11 23
1004 ARD001 Aredyld 23
1005 c NPH108 Nephrotic Syndrome, Type 20 22
1006 c PNC132 Pancreatic Cancer 5 22
1007 c NPH106 Nephrotic Syndrome, Type 18 22
1008 THY016 Thyroid Hurthle Cell Adenoma 22
1009 MXD014 Mixed Ductal-Endocrine Carcinoma 22
1010 c PRM192 Premature Ovarian Failure 8 22
1011 MSC089 Mosaic Monosomy X 21
1012 DDN028 Duodenal Neuroendocrine Tumor 21
1013 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 21
1014 CLL009 Colloid Carcinoma of the Pancreas 21
1015 FTL005 Fetal Adenoma 21
1016 TTR018 Tetragametic Chimerism 20
1017 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 20
1018 c 46X046 46,xy Sex Reversal 4 20
1019 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 20
1020 c MLG033 Malignant Ovarian Cyst 20
1021 PNC024 Pancreatic Colloid Cystadenoma 20
1022 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
1023 c PRM295 Premature Ovarian Failure 15 20
1024 c INS009 Insulin-Resistance Type B 20
1025 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 19
1026 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 19
1027 OVR027 Ovarian Squamous Cell Carcinoma 19
1028 NRN006 Neuroendocrine Carcinoma of the Cervix 19
1029 IGG015 Igg4-Related Thyroid Disease 19
1030 HYD021 Hydrocephalus Obesity Hypogonadism 19
1031 PST034 Posterior Pituitary Gland Neoplasm 19
1032 GRW032 Growth Factors, Combined Defect of 18
1033 c HYP311 Hyperparathyroidism 3 18
1034 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 18
1035 c THY100 Thyroid Cancer, Nonmedullary, 4 18
1036 c ACQ034 Acquired Central Diabetes Insipidus 18
1037 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
1038 c PRM255 Premature Ovarian Failure 12 17
1039 c 46X060 46,xx Disorder of Sex Development 17
1040 SMT017 Somatomammotropinoma 17
1041 MLT005 Multicentric Papillary Thyroid Carcinoma 17
1042 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 17
1043 OVR033 Ovary Papillary Carcinoma 16
1044 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 16
1045 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
1046 c VTM035 Vitamin D-Dependent Rickets, Type 3 16
1047 BLT017 Bilateral Massive Adrenal Hemorrhage 16
1048 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
1049 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 16
1050 c PRM348 Premature Ovarian Failure 17 15
1051 c CHR695 Chronic Primary Adrenal Insufficiency 15
1052 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1053 c THY117 Thyroid Cancer, Nonmedullary, 3 15
1054 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 15
1055 c KLL007 Kallmann Syndrome 5 15
1056 P FML354 Familial Nonmedullary Thyroid Carcinoma 15
1057 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
1058 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
1059 NRH002 Neurohypophysis Granular Cell Tumor 14
1060 ECT055 Ectopic Aldosterone-Producing Tumor 14
1061 c ATM056 Autoimmune Thyroid Disease 1 13
1062 XLN112 X-Linked Intellectual Disability, Cilliers Type 13
1063 OVR040 Ovarian Clear Cell Cystadenocarcinoma 13
1064 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 13
1065 XSM001 X Small Rings 12
1066 MYX002 Myxoid Liposarcoma of the Ovary 12
1067 c RSS030 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta 12
1068 NRN032 Neuroendocrine Tumor of Anal Canal 12
1069 c ERL059 Early-Onset Familial Hypoaldosteronism 12
1070 LPS003 Liposarcoma of the Ovary 12
1071 c LTN026 Late-Onset Familial Hypoaldosteronism 12
1072 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
1073 c PRT254 Proteasome-Associated Autoinflammatory Syndrome 5 11
1074 P OVR052 Ovarian Endometrioid Adenofibroma 11
1075 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
1076 PTT039 Pituitary Dermoid and Epidermoid Cysts 11
1077 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
1078 c ATM058 Autoimmune Thyroid Disease 4 10
1079 OVR020 Ovarian Wilms' Cancer 10
1080 HYP852 Hypocalcemic Rickets 10
1081 TBR005 Tuberculous Oophoritis 9
1082 HRD017 Hordeolum Externum 9
1083 MDD017 Middle Ear Neuroendocrine Tumor 9
1084 INT222 Intermediate Dend Syndrome 9
1085 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 9
1086 c RRH009 Rare Hypothyroidism 8
1087 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
1088 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 8
1089 MLG017 Malignant Tumor of Undescended Testis 8
1090 CLM001 Columnar Cell Variant Papillary Carcinoma 8
1091 c RRP004 Rare Primary Hyperaldosteronism 7
1092 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 7
1093 c ACQ064 Acquired Premature Ovarian Failure 7
1094 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
1095 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1096 RRD066 Rare Dyslipidemia 7
1097 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1098 TST008 Testis Polyembryoma 7
1099 c RRH011 Rare Hyperparathyroidism 7
1100 CLS051 Classic Neuroendocrine Tumor of Appendix 6
1101 TST009 Testis Refractory Cancer 6
1102 CHL036 Childhood Mature Teratoma of the Ovary 6
1103 PNC029 Pancreatic Acth Hormone Producing Tumor 6
1104 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 6
1105 OVR036 Ovarian Endometrioid Cystadenofibroma 6
1106 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
1107 PNC040 Pancreatic Delta Cell Neoplasm 5
1108 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 5
1109 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 5
1110 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
1111 P BNG096 Benign Exocrine Pancreas Neoplasm 5
1112 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1113 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
1114 c PRM358 Primary Ovarian Insufficiency 9 5
1115 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
1116 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
1117 P RRH027 Rare Hypercholesterolemia 5
1118 P RRD068 Rare Adrenal Disease 5
1119 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1120 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
1121 MXD018 Mixed Cell Type Adenoma of Parathyroid 4
1122 MCN026 Mucinous Pancreas Adenocarcinoma 4
1123 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 4
1124 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
1125 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
1126 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1127 c PRM365 Primary Ovarian Insufficiency 16 4
1128 c OVR071 Ovarian Insufficiency, Familial 4
1129 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 4
1130 NNC018 Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations 4
1131 RRD070 Rare Disorder with Multisystemic Involvement and Congenital Hypogonadotropic Hypogonadism 4
1132 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1133 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 3
1134 RRP003 Rare Peripheral Precocious Puberty 3
1135 PTT064 Pituitary Hormone Deficiency Secondary to Storage Disease 3
1136 PTT065 Pituitary Hormone Deficiency Secondary to a Granulomatous Disease 3
1137 DSS031 Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency 3
1138 c FRG004 Fragile X Syndrome Type 1 3
1139 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1140 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 3
1141 c GNT178 Genetic Chronic Primary Adrenal Insufficiency 3
1142 END089 Endocrinopathy with Congenital Hypogonadotropic Hypogonadism As a Major Feature 3
1143 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 3
1144 NRN048 Neuroendocrine Tumor with Other Location 3
1145 DYS002 Dysplastic Nevus Syndrome 54
1146 P PNC035 Pancreatic Cancer 86
1147 LPT014 Leptin Deficiency or Dysfunction 78
1148 P PHC003 Pheochromocytoma 69
1149 P HLP001 Holoprosencephaly 69
1150 c MYT021 Myotonic Dystrophy 1 68
1151 ABT001 Abetalipoproteinemia 68
1152 PRT010 Parathyroid Carcinoma 68
1153 P MTR004 Maturity-Onset Diabetes of the Young 68
1154 c MLT160 Multiple Endocrine Neoplasia, Type Iia 67
1155 THY111 Thyroid Carcinoma, Familial Medullary 67
1156 P NRB001 Neuroblastoma 66
1157 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66
1158 P GLC113 Galactosemia I 66
1159 PRT036 Peritonitis 65
1160 PNC129 Pancreatic Adenocarcinoma 65
1161 TNG002 Tangier Disease 64
1162 CLR108 Colorectal Adenoma 64
1163 CRN036 Craniopharyngioma 64
1164 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63
1165 KRN002 Kearns-Sayre Syndrome 63
1166 ADR016 Adrenal Cortical Carcinoma 62
1167 c MLT159 Multiple Endocrine Neoplasia, Type Iib 61
1168 c WLF013 Wolfram Syndrome 1 60
1169 P NPH012 Nephrotic Syndrome 60
1170 CHN016 Cohen Syndrome 60
1171 INS001 Insulinoma 59
1172 c PRM005 Primary Hyperparathyroidism 59
1173 c NRB010 Neuroblastoma 1 59
1174 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58
1175 PND002 Pendred Syndrome 57
1176 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 56
1177 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 56
1178 CRC006 Carcinoid Syndrome 55
1179 P PTT006 Pituitary Adenoma 55
1180 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 55
1181 ZLL002 Zollinger-Ellison Syndrome 55
1182 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
1183 ISL014 Isolated Growth Hormone Deficiency, Type Ia 54
1184 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
1185 c PTT056 Pituitary Adenoma 1, Multiple Types 53
1186 ADR049 Adrenal Hypoplasia, Congenital 53
1187 JHN001 Johanson-Blizzard Syndrome 52
1188 CHN054 Chondrodysplasia, Blomstrand Type 52
1189 FML026 Familial Lipoprotein Lipase Deficiency 52
1190 PRS127 Pearson Marrow-Pancreas Syndrome 52
1191 c PNC106 Pancreatic Agenesis 1 51
1192 P DFF019 Diffuse Gastric Cancer 50
1193 c MCR261 Microphthalmia, Syndromic 2 50
1194 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 50
1195 PNC034 Pancreas Disease 50
1196 c MLT086 Multiple Endocrine Neoplasia, Type Iv 50
1197 c HYP841 Hypoalphalipoproteinemia, Primary, 1 49
1198 LPR001 Lepromatous Leprosy 49
1199 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1200 VPM001 Vipoma 49
1201 c BRD011 Bardet-Biedl Syndrome 10 49
1202 GLY014 Glycerol Kinase Deficiency 48
1203 THY125 Thyroid Gland Medullary Carcinoma 48
1204 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 48
1205 MRT007 Martsolf Syndrome 48
1206 INP001 Inappropriate Adh Syndrome 48
1207 c HLP026 Holoprosencephaly 3 48
1208 c TRN032 Transient Neonatal Diabetes Mellitus 47
1209 ADR054 Adrenocortical Carcinoma, Hereditary 47
1210 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 47
1211 c AXN010 Axenfeld-Rieger Syndrome, Type 3 47
1212 PTT004 Pituitary Apoplexy 47
1213 OVR044 Ovarian Carcinosarcoma 47
1214 P GRW001 Growth Hormone Secreting Pituitary Adenoma 47
1215 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46
1216 P ATM019 Autoimmune Polyendocrine Syndrome 46
1217 c HLP016 Holoprosencephaly 11 46
1218 c HYP272 Hypercholesterolemia, Familial, 3 45
1219 END031 Endometrial Stromal Sarcoma 45
1220 CRT039 Corticosterone Methyloxidase Type I Deficiency 45
1221 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 45
1222 APP009 Appendix Adenocarcinoma 45
1223 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44
1224 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
1225 DWR001 Dwarfism 44
1226 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 44
1227 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
1228 c BRD013 Bardet-Biedl Syndrome 12 44
1229 P OVR106 Ovarian Clear Cell Carcinoma 44
1230 P HRD018 Hair Disease 44
1231 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 43
1232 c WLF009 Wolfram Syndrome 2 43
1233 FML091 Familial Tumoral Calcinosis 43
1234 TST015 Testicular Disease 42
1235 TSH001 Tsh Producing Pituitary Tumor 42
1236 EST007 Estrogen Resistance 41
1237 c NPH072 Nephrotic Syndrome, Type 7 40
1238 c BRD021 Bardet-Biedl Syndrome 9 40
1239 PNC008 Pancreatic Endocrine Carcinoma 39
1240 PNC015 Pancreatic Acinar Cell Adenocarcinoma 39
1241 THY124 Thyroid Gland Papillary Carcinoma 39
1242 ADR004 Adrenal Cortical Adenocarcinoma 38
1243 P ACT244 Acth-Independent Cushing Syndrome 38
1244 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 38
1245 TMP012 Temple Syndrome 38
1246 c RBN008 Rubinstein-Taybi Syndrome 2 38
1247 OST004 Osteitis Fibrosa 38
1248 c 46X051 46,xy Sex Reversal 1 38
1249 c PLL017 Pallister-Hall-Like Syndrome 37
1250 OVR105 Ovarian Serous Carcinoma 37
1251 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 37
1252 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1253 HYP249 Hyperthyroidism, Nonautoimmune 36
1254 c CNG200 Congenital Disorder of Glycosylation, Type Iq 36
1255 NST002 Nestor-Guillermo Progeria Syndrome 35
1256 P TTR031 Tetraamelia Syndrome 35
1257 ECC003 Eccrine Papillary Adenoma 35
1258 CYL004 Cylindromatosis, Familial 35
1259 OVR054 Ovarian Mucinous Neoplasm 34
1260 OVR011 Ovarian Mucinous Adenocarcinoma 34
1261 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 34
1262 GRW023 Growth Hormone Deficiency, Isolated Partial 34
1263 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 34
1264 MMM007 Mammary Analogue Secretory Carcinoma 34
1265 PNC039 Pancreatic Cystadenoma 34
1266 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 33
1267 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 33
1268 HRM003 Hormone Producing Pituitary Cancer 33
1269 c TBL032 Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 33
1270 PNC127 Pancreatic Adenosquamous Carcinoma 33
1271 c HYP564 Hypocalcemia, Autosomal Dominant 2 32
1272 PNC016 Pancreatic Cholera 32
1273 c FML353 Familial Ovarian Cancer 32
1274 P GRW041 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive 31
1275 EMB006 Embryonal Testis Carcinoma 31
1276 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
1277 c MLG059 Malignant Struma Ovarii 31
1278 OVR050 Ovarian Embryonal Carcinoma 31
1279 PRM205 Primary Hepatic Neuroendocrine Carcinoma 30
1280 c MLG168 Malignant Exocrine Pancreas Neoplasm 30
1281 c MCR228 Microphthalmia, Syndromic 13 30
1282 c LFR009 Li-Fraumeni Syndrome 1 29
1283 c NRB015 Neuroblastoma 2 29
1284 OVR048 Ovarian Cystadenoma 29
1285 OVR103 Ovarian Endometrial Cancer 29
1286 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 29
1287 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 29
1288 PPM002 Ppoma 28
1289 c NRB014 Neuroblastoma 3 28
1290 c SHR033 Short Qt Syndrome 3 28
1291 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 28
1292 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28
1293 MMS001 Momo Syndrome 28
1294 c PRS050 Prss1-Related Hereditary Pancreatitis 28
1295 P HRD022 Hordeolum 28
1296 PTT047 Pituitary Hormone Deficiency, Combined, 3 28
1297 c HYP860 Hypothyroidism, Congenital, Nongoitrous, 7 27
1298 OVR060 Ovary Epithelial Cancer 27
1299 c NNN034 Noonan Syndrome 12 27
1300 LRY013 Laryngeal Neuroendocrine Tumor 27
1301 ADR003 Adrenal Neuroblastoma 27
1302 PNC006 Pancreatic Somatostatinoma 27
1303 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
1304 INT041 Intratubular Embryonal Carcinoma 26
1305 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1306 PNL023 Penile Agenesis 26
1307 THY031 Thyroid Sarcoma 25
1308 FML211 Familial Papillary or Follicular Thyroid Carcinoma 25
1309 c NPH073 Nephrotic Syndrome, Type 8 25
1310 c NPH095 Nephrotic Syndrome, Type 11 25
1311 HYP683 Hypogonadism-Cataract Syndrome 25
1312 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24
1313 URC004 Urachal Cancer 24
1314 P VTM003 Vitamin Metabolic Disorder 24
1315 DPL009 Duplication of the Pituitary Gland 24
1316 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 24
1317 TST003 Testicular Leukemia 24
1318 c TTR028 Tetraamelia Syndrome 1 24
1319 c TTR029 Tetraamelia Syndrome 2 24
1320 FNC003 Functionless Pituitary Adenoma 24
1321 PRD041 Periodic Fever, Menstrual Cycle-Dependent 24
1322 OVR016 Ovarian Endometrioid Stromal Sarcoma 23
1323 OVR104 Ovarian Melanoma 23
1324 ACT245 Acth-Dependent Cushing Syndrome 23
1325 c 46X058 46,xy Sex Reversal 10 23
1326 c 46X059 46,xx Sex Reversal 4 23
1327 PNC018 Pancreatic Serous Cystadenoma 23
1328 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 23
1329 c MCR217 Microphthalmia, Syndromic 11 23
1330 CRT066 Cortisone Reductase Deficiency 2 23
1331 EPD012 Epididymal Neoplasm 22
1332 c HLP022 Holoprosencephaly 8 22
1333 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
1334 c INT047 Internal Hordeolum 22
1335 GST035 Gestational Ovarian Choriocarcinoma 21
1336 NNF001 Non-Functioning Pancreatic Endocrine Tumor 21
1337 MRB006 Morbid Obesity and Spermatogenic Failure 21
1338 PDT022 Pediatric Ovarian Germ Cell Tumor 21
1339 OVR003 Ovarian Angiosarcoma 21
1340 c NPH107 Nephrotic Syndrome, Type 19 21
1341 c TYP034 Type 1 Diabetes Mellitus 8 21
1342 THY106 Thyroglossal Duct Cyst, Familial 20
1343 c HLP021 Holoprosencephaly 6 20
1344 PDT023 Pediatric Testicular Germ Cell Tumor 20
1345 DST037 Distal Monosomy 9p 20
1346 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 20
1347 c HRN019 Hair-an Syndrome 20
1348 c TYP052 Type 1 Diabetes Mellitus 19 19
1349 THY127 Thyroid Gland Hurthle Cell Carcinoma 19
1350 NRN045 Neuroendocrine Neoplasm of Appendix 19
1351 PNC017 Pancreatic Serous Cystic Neoplasm 18
1352 c 46X050 46,xx Sex Reversal 3 18
1353 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 18
1354 NRN044 Neuroendocrine Carcinoma of Pancreas 17
1355 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 17
1356 NRN033 Neuroendocrine Tumor of the Colon 17
1357 THY126 Thyroid Gland Mucoepidermoid Carcinoma 17
1358 c ATM063 Autoimmune Pancreatitis Type 2 16
1359 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
1360 c TST017 Testicular Malignant Germ Cell Cancer 16
1361 c NNS019 Nonsyndromic Holoprosencephaly 16
1362 OVR004 Ovary Neuroendocrine Neoplasm 16
1363 FNC065 Functioning Neuroendocrine Tumor of Pancreas 16
1364 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1365 c NRB012 Neuroblastoma 5 15
1366 c NRB016 Neuroblastoma 7 15
1367 c MYC055 Mycobacterium Tuberculosis 3 15
1368 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1369 PNC126 Pancreatic Squamous Cell Carcinoma 14
1370 THY092 Thymic Neuroendocrine Carcinoma 14
1371 c NRB011 Neuroblastoma 4 13
1372 c NRB013 Neuroblastoma 6 12
1373 MLG159 Malignant Pediatric Adrenal Gland Pheochromocytoma 12
1374 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 11
1375 OVR055 Ovarian Papillary Neoplasm 10
1376 CHL043 Childhood Embryonal Testis Carcinoma 8
1377 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1378 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 8
1379 PRP104 Prepubertal Anorexia Nervosa 8
1380 CHL038 Childhood Choriocarcinoma of the Ovary 7
1381 c ALP107 Alpha-Thalassemia and Related Diseases 7
1382 RTV002 Rete Ovarii Adenocarcinoma 7
1383 OVR019 Ovarian Malignant Mesothelioma 7
1384 TST002 Testicular Brenner Tumor 7
1385 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 7
1386 P RRT025 Rare Thyroid Disease 7
1387 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1388 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
1389 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 6
1390 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
1391 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 6
1392 OVR028 Ovarian Squamous Cell Neoplasm 5
1393 c RRD012 Rare Diabetes Mellitus Type 1 5
1394 c RRD013 Rare Diabetes Mellitus Type 2 5
1395 c BTT015 Beta-Thalassemia and Related Diseases 5
1396 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1397 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1398 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
1399 c PRM355 Primary Ovarian Insufficiency 6 4
1400 c PRM356 Primary Ovarian Insufficiency 7 4
1401 c PRM359 Primary Ovarian Insufficiency 10 4
1402 c PRM361 Primary Ovarian Insufficiency 12 4
1403 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1404 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 4
1405 P SYC001 Say Carpenter Syndrome 4
1406 RRH007 Rare Hypolipidemia 4
1407 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
1408 c FRG006 Fragile X Syndrome Type 3 3
1409 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1410 GST109 Gastroenteric Neuroendocrine Neoplasm 3
1411 P RRG009 Rare Genetic Adrenal Disease 3
1412 END035 Endocrine Gland Cancer 43
1413 c HYP836 Hypercholesterolemia, Familial, 1 73
1414 c MLT156 Multiple Endocrine Neoplasia, Type I 72
1415 P PLY014 Polycystic Kidney Disease 69
1416 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
1417 P HYP768 Hyperlipoproteinemia, Type I 67
1418 c HYP724 Hyperlipoproteinemia, Type Iii 67
1419 THY121 Thyroid Gland Anaplastic Carcinoma 67
1420 c ATS347 Autosomal Dominant Polycystic Kidney Disease 66
1421 LYS012 Lysosomal Acid Lipase Deficiency 65
1422 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65
1423 c CNG012 Congenital Generalized Lipodystrophy 65
1424 ALS001 Alstrom Syndrome 65
1425 MRK001 Merkel Cell Carcinoma 64
1426 P CRN038 Carney Complex Variant 64
1427 PRG017 Paraganglioma and Gastric Stromal Sarcoma 63
1428 PTT046 Pituitary Hormone Deficiency, Combined, 2 62
1429 c ALP101 Alpha-Thalassemia 62
1430 P PLL001 Pallister-Hall Syndrome 62
1431 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
1432 P PNC044 Pancreatitis 61
1433 P VND007 Van Der Woude Syndrome 1 60
1434 DBT084 Diabetes Mellitus, Ketosis-Prone 60
1435 WST001 West Syndrome 59
1436 P FML052 Familial Cold Autoinflammatory Syndrome 59
1437 FML063 Familial Glucocorticoid Deficiency 58
1438 CLS005 Clouston Syndrome 58
1439 c SML009 Small Intestine Adenocarcinoma 57
1440 ISL003 Isolated Growth Hormone Deficiency 57
1441 P HYP050 Hyperinsulinemic Hypoglycemia 57
1442 P THL005 Thalassemia 56
1443 ISL001 Islet Cell Tumor 56
1444 ADR008 Adrenal Adenoma 55
1445 P PSD015 Pseudohypoparathyroidism 55
1446 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 55
1447 c FML116 Familial Cold Autoinflammatory Syndrome 1 55
1448 c THY102 Thyroid Cancer, Nonmedullary, 2 55
1449 AND020 Androgen Insensitivity, Partial 55
1450 NNT017 Neonatal Adrenoleukodystrophy 54
1451 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 53
1452 HYP732 Hyperalphalipoproteinemia 1 52
1453 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
1454 P NNT058 Neonatal Diabetes 52
1455 c 46X082 46,xy Sex Reversal 52
1456 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 52
1457 ARM004 Aromatase Excess Syndrome 51
1458 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 51
1459 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1460 OVR059 Ovary Adenocarcinoma 49
1461 c FML253 Familial Cold Autoinflammatory Syndrome 3 49
1462 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 49
1463 PGT003 Paget Disease, Extramammary 47
1464 c FML297 Familial Thyroid Dyshormonogenesis 47
1465 HPT025 Hepatic Lipase Deficiency 47
1466 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 47
1467 c MCR245 Microphthalmia, Syndromic 8 46
1468 c LFR007 Li-Fraumeni Syndrome 2 46
1469 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 45
1470 LRN001 Laurence-Moon Syndrome 45
1471 FSH001 Fish-Eye Disease 44
1472 c SHR030 Short Qt Syndrome 44
1473 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
1474 P TST026 Testicular Germ Cell Cancer 44
1475 LPP002 Lipoprotein Glomerulopathy 43
1476 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 43
1477 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
1478 PNC118 Pancreas, Annular 43
1479 c LPD019 Lipodystrophy, Partial, Acquired 42
1480 ONC003 Oncogenic Osteomalacia 42
1481 c FML117 Familial Cold Autoinflammatory Syndrome 2 41
1482 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 41
1483 BCH003 Boucher-Neuhauser Syndrome 41
1484 c 46X079 46,xy Sex Reversal 11 41
1485 OPS001 Opisthorchiasis 41
1486 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40
1487 c HMG029 Hemoglobin Se Disease 40
1488 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 40
1489 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
1490 c 46X055 46,xy Sex Reversal 3 40
1491 49X006 49, Xxxxy Syndrome 40
1492 c CNG198 Congenital Disorder of Glycosylation, Type Il 40
1493 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 40
1494 c MCR312 Microphthalmia, Syndromic 10 40
1495 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 39
1496 c PTT060 Pituitary Adenoma 5, Multiple Types 39
1497 TST004 Testicular Lymphoma 39
1498 OVR047 Ovarian Cystadenocarcinoma 38
1499 c DNT021 Dent Disease 2 37
1500 ARC025 Arachnoid Cysts, Intracranial 37
1501 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
1502 CHR387 Chromosome Xp21 Deletion Syndrome 37
1503 PRP098 Proprotein Convertase 1/3 Deficiency 37
1504 c MLG157 Malignant Pheochromocytoma 36
1505 c HYP290 Hypobetalipoproteinemia, Familial, 2 36
1506 PLS002 Peliosis Hepatis 35
1507 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1508 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 34
1509 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 34
1510 P LRG016 Large Intestine Adenocarcinoma 34
1511 PNC104 Pancreatic and Cerebellar Agenesis 34
1512 c 46X057 46,xy Sex Reversal 8 34
1513 c 46X081 46,xx Sex Reversal 33
1514 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 33
1515 c TYP055 Type 1 Diabetes Mellitus 22 31
1516 c CRP022 Carpenter Syndrome 2 31
1517 c THY056 Thyroid Dyshormonogenesis 3 31
1518 c HYP600 Hyperaldosteronism, Familial, Type Ii 30
1519 c HYP864 Hypoparathyroidism, Familial Isolated, 1 30
1520 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1521 STY001 Satoyoshi Syndrome 30
1522 ADR014 Adrenal Medulla Cancer 28
1523 c PNC094 Pancreatic Cancer 1 28
1524 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1525 c SHR031 Short Qt Syndrome 1 27
1526 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
1527 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
1528 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 26
1529 DTH005 Diethylstilbestrol Syndrome 26
1530 PGD001 Pagod Syndrome 26
1531 c PNC103 Pancreatic Cancer 4 26
1532 c TYP057 Type 1 Diabetes Mellitus 24 25
1533 OVR062 Ovary Serous Adenocarcinoma 25
1534 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
1535 c TYP027 Type 1 Diabetes Mellitus 10 25
1536 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 25
1537 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 25
1538 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 24
1539 c VND004 Van Der Woude Syndrome 2 24
1540 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 24
1541 c TYP029 Type 1 Diabetes Mellitus 3 24
1542 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
1543 c TYP040 Type 1 Diabetes Mellitus 18 23
1544 c NNN029 Noonan Syndrome 11 23
1545 c PLY141 Polycystic Kidney Disease 5 22
1546 c PNC095 Pancreatic Cancer 3 22
1547 c PLY176 Polycystic Kidney Disease 4 22
1548 c 46X080 46,xx Sex Reversal 5 21
1549 c TBL034 Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 21
1550 c TYP049 Type 2 Diabetes Mellitus 2 21
1551 ILL008 Ileal Neuroendocrine Tumor 20
1552 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 20
1553 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 20
1554 c TYP038 Type 1 Diabetes Mellitus 15 20
1555 c PRR033 Perrault Syndrome 6 20
1556 PNC007 Pancreas Lymphoma 19
1557 NRN047 Neuroendocrine Neoplasm of Pancreas 19
1558 c PNC105 Pancreatic Agenesis 2 19
1559 MNT030 Mental Retardation Syndrome, Belgian Type 18
1560 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
1561 c LPR016 Leprosy 4 16
1562 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 16
1563 c TYP050 Type 2 Diabetes Mellitus 3 15
1564 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
1565 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
1566 JJN009 Jejunal Neuroendocrine Tumor 14
1567 c MYC054 Mycobacterium Tuberculosis 2 14
1568 DGS008 Digestive System Melanoma 13
1569 c CMP100 Campomelic Dysplasia and Related Disorders 12
1570 c ATS423 Autosomal Dominant Wolfram Syndrome 8
1571 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 7
1572 c RRD067 Rare Diabetes Mellitus 7
1573 CHL048 Childhood Teratocarcinoma of the Testis 7
1574 c ADL036 Adult Central Nervous System Germinoma 6
1575 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1576 P LPR021 Leprosy 3 71
1577 P SRC025 Sarcoidosis 1 71
1578 c PNC108 Pancreatitis, Hereditary 69
1579 PTT048 Pituitary Adenoma, Prolactin-Secreting 64
1580 AND002 Androgen Insensitivity Syndrome 63
1581 P HYP069 Hyperparathyroidism 62
1582 ADR005 Adrenal Carcinoma 62
1583 P PRM030 Permanent Neonatal Diabetes Mellitus 59
1584 P PLY011 Polycystic Ovary Syndrome 57
1585 DNY001 Denys-Drash Syndrome 57
1586 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56
1587 c THY109 Thyroid Cancer, Nonmedullary, 1 55
1588 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 54
1589 P 46X052 46,xx Sex Reversal 1 54
1590 c CRN243 Carney Complex, Type 1 53
1591 SCH071 Schaaf-Yang Syndrome 53
1592 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1593 SMT003 Somatostatinoma 52
1594 END002 Endometrioid Ovary Carcinoma 52
1595 c NPH055 Nephrotic Syndrome, Type 1 52
1596 c NPH049 Nephrotic Syndrome, Type 2 51
1597 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 51
1598 CLL036 Culler-Jones Syndrome 49
1599 c FML015 Familial Nephrotic Syndrome 48
1600 c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 47
1601 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 46
1602 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
1603 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 45
1604 c NPH054 Nephrotic Syndrome, Type 3 45
1605 c NPH102 Nephrotic Syndrome, Type 14 44
1606 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 43
1607 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 43
1608 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
1609 PLR023 Polr3-Related Leukodystrophy 42
1610 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 42
1611 NVL003 Nivelon-Nivelon-Mabille Syndrome 42
1612 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1613 KRK001 Krukenberg Carcinoma 39
1614 P OVR010 Ovarian Brenner Tumor 39
1615 c KNN007 Kenny-Caffey Syndrome, Type 2 39
1616 ISL015 Isolated Growth Hormone Deficiency, Type Ib 39
1617 GST004 Gastric Neuroendocrine Neoplasm 36
1618 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 35
1619 P LYD011 Leydig Cell Hypoplasia 34
1620 c PRR020 Perrault Syndrome 1 33
1621 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
1622 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 32
1623 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 32
1624 ACR079 Acrodysostosis with Multiple Hormone Resistance 32
1625 IDP085 Idiopathic Infantile Hypercalcemia 32
1626 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 32
1627 KPP002 Keppen-Lubinsky Syndrome 30
1628 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 30
1629 PNC014 Pancreatic Serous Cystadenocarcinoma 29
1630 c TBL033 Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 28
1631 THY064 Thyroid Hormone Metabolism, Abnormal 28
1632 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
1633 VNS015 Van Esch-O'driscoll Syndrome 27
1634 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
1635 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
1636 SML004 Small Intestine Neuroendocrine Neoplasm 26
1637 c NPH103 Nephrotic Syndrome, Type 15 26
1638 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 26
1639 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1640 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 24
1641 c NPH070 Nephrotic Syndrome, Type 6 23
1642 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
1643 48X002 48,xxxy Syndrome 23
1644 DFN313 Deafness-Hypogonadism Syndrome 23
1645 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 21
1646 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1647 c GRW042 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 20
1648 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1649 c LPR023 Leprosy 1 19
1650 c LPR017 Leprosy 5 19
1651 c HYP867 Hypoparathyroidism, Familial Isolated, 2 17
1652 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1653 c NPH115 Nephrotic Syndrome, Type 23 13
1654 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 13
1655 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
1656 P NNN008 Noonan Syndrome 1 77
1657 CHR103 Charge Syndrome 66
1658 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 65
1659 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
1660 c MCR256 Microphthalmia, Syndromic 9 61
1661 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1662 P MLT074 Multiple Endocrine Neoplasia 59
1663 c HYP731 Hyperaldosteronism, Familial, Type I 58
1664 FRS002 Frasier Syndrome 54
1665 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
1666 IMM179 Immunodeficiency 31c 53
1667 c GLC112 Galactosemia Iii 51
1668 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 50
1669 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 50
1670 GRD009 Gordon Holmes Syndrome 50
1671 BRJ001 Borjeson-Forssman-Lehmann Syndrome 50
1672 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
1673 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 48
1674 c MCR251 Microphthalmia, Syndromic 6 48
1675 c MCR263 Microphthalmia, Syndromic 1 48
1676 CHP002 Chops Syndrome 47
1677 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1678 SML031 Small Cell Carcinoma of the Bladder 46
1679 c LPD021 Lipodystrophy, Familial Partial, Type 3 46
1680 P ACQ022 Acquired Generalized Lipodystrophy 45
1681 c CNG190 Congenital Disorder of Glycosylation, Type Iib 44
1682 P PRR025 Perrault Syndrome 42
1683 IMM064 Immunodeficiency, Common Variable, 10 42
1684 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
1685 PSD021 Pseudovaginal Perineoscrotal Hypospadias 42
1686 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
1687 c BRD044 Bardet-Biedl Syndrome 17 41
1688 c LPD030 Lipodystrophy, Familial Partial, Type 5 40
1689 OVR112 Ovarian Germ Cell Cancer 38
1690 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1691 c NPH076 Nephrotic Syndrome, Type 10 37
1692 c BRD035 Bardet-Biedl Syndrome 15 36
1693 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1694 c HYP438 Hyperaldosteronism, Familial, Type Iii 35
1695 c KNN009 Kenny-Caffey Syndrome, Type 1 35
1696 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
1697 c LPR022 Leprosy 2 34
1698 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1699 c NNN024 Noonan Syndrome 9 30
1700 c NPH096 Nephrotic Syndrome, Type 12 29
1701 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 27
1702 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
1703 c PNC111 Pancreatic Cancer 2 26
1704 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 26
1705 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25
1706 c PRR022 Perrault Syndrome 2 25
1707 c NPH074 Nephrotic Syndrome, Type 9 24
1708 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1709 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 23
1710 c GLC115 Galactosemia Iv 23
1711 P RBN007 Rubinstein Taybi Like Syndrome 20
1712 c NPH104 Nephrotic Syndrome, Type 16 20
1713 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 17
1714 c LPR020 Leprosy 6 16
1715 c ATS404 Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations 12
1716 c ATS481 Autosomal Dominant Beta Thalassemia 10
1717 c GRW044 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 6
1718 P DSR041 Disorder of Multiple Glycosylation 6
1719 c GRW043 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 5
1720 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68
1721 c GST103 Gastric Cancer, Hereditary Diffuse 68
1722 CRB011 Cerebrotendinous Xanthomatosis 65
1723 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 64
1724 P DNT020 Dent Disease 1 63
1725 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 60
1726 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58
1727 c MYT020 Myotonic Dystrophy 2 57
1728 APP015 Apparent Mineralocorticoid Excess 57
1729 c MCR241 Microphthalmia, Syndromic 3 55
1730 c ATM024 Autoimmune Pancreatitis 52
1731 c PSD047 Pseudo-Turner Syndrome 52
1732 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50
1733 c BRD020 Bardet-Biedl Syndrome 8 49
1734 GLC106 Glucocorticoid Resistance, Generalized 48
1735 MHM001 Mehmo Syndrome 47
1736 c BRD032 Bardet-Biedl Syndrome 14 46
1737 c SRC023 Sarcoidosis 2 44
1738 P HRD086 Hereditary Hypophosphatemic Rickets 40
1739 c CNG189 Congenital Disorder of Glycosylation, Type Ib 39
1740 c BRD048 Bardet-Biedl Syndrome 18 39
1741 c MCR252 Microphthalmia, Syndromic 5 38
1742 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
1743 P FML156 Familial Hyperaldosteronism 38
1744 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 31
1745 c MCR212 Microphthalmia, Syndromic 12 28
1746 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1747 CHR506 Choroideremia, Deafness, and Mental Retardation 27
1748 c PRR024 Perrault Syndrome 3 24
1749 c ATM064 Autoimmune Pancreatitis Type 1 20
1750 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
1751 P ATX030 Ataxia-Telangiectasia 80
1752 P TRN020 Turner Syndrome 67
1753 c PSD108 Pseudohypoparathyroidism, Type Ia 65
1754 P AXN002 Axenfeld-Rieger Syndrome 63
1755 c RBN021 Rubinstein-Taybi Syndrome 1 57
1756 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
1757 c NNN009 Noonan Syndrome 2 38
1758 c NNN036 Noonan Syndrome 13 24
1759 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 21
1760 c SRC024 Sarcoidosis 3 18
1761 MCC012 Mccune-Albright Syndrome 70
1762 P FML068 Familial Hypocalciuric Hypercalcemia 55
1763 c BRD015 Bardet-Biedl Syndrome 3 48
1764 c NNN010 Noonan Syndrome 3 47
1765 c CNG194 Congenital Disorder of Glycosylation, Type Ig 47
1766 P PHS005 Peho Syndrome 44
1767 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
1768 c CNG497 Congenital Disorder of Glycosylation, Type Iio 38
1769 c NNN020 Noonan Syndrome 7 38
1770 c PSD117 Pseudohypoparathyroidism, Type Ic 37
1771 c NNN021 Noonan Syndrome 8 37
1772 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1773 c PHL010 Peho-Like Syndrome 31
1774 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1775 c BRD010 Bardet-Biedl Syndrome 1 64
1776 c CNG415 Congenital Disorder of Glycosylation, Type Ia 59
1777 ARM001 Aromatase Deficiency 54
1778 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
1779 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 41
1780 c NNN025 Noonan Syndrome 10 30
1781 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
1782 PSD014 Pseudopseudohypoparathyroidism 54
1783 c BRD016 Bardet-Biedl Syndrome 4 44
1784 c CNG617 Congenital Disorder of Glycosylation, Type Iit 25
1785 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
1786 c CNG416 Congenital Disorder of Glycosylation, Type Iy 31
1787 c CNG193 Congenital Disorder of Glycosylation, Type Ip 45
1788 c CNG199 Congenital Disorder of Glycosylation, Type Im 44
1789 c CNG208 Congenital Disorder of Glycosylation, Type Iic 47
1790 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
1791 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
1792 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1793 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
1794 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50



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