Endocrine Diseases Category (1765 diseases)


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

# Family MCID Name MIFTS
1 ISL014 Isolated Growth Hormone Deficiency, Type Ia 58
2 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
3 ADR049 Adrenal Hypoplasia, Congenital 48
4 ADR005 Adrenal Carcinoma 58
5 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 53
6 ISL003 Isolated Growth Hormone Deficiency 52
7 c PNC108 Pancreatitis, Hereditary 62
8 ADR008 Adrenal Adenoma 51
9 ISL114 Isolated Growth Hormone Deficiency, Type Ii 47
10 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 35
11 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 39
12 PNC120 Pancreas, Dorsal, Agenesis of 25
13 c LYD012 Leydig Cell Hypoplasia, Type I 34
14 ISL125 Isolated Growth Hormone Deficiency Type Iii 28
15 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52
16 P PHC003 Pheochromocytoma 72
17 CNN003 Conn's Syndrome 70
18 c SPR094 Sporadic Pheochromocytoma 36
19 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
20 HYP780 Hypoadrenocorticism, Familial 62
21 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
22 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 40
23 PTT044 Pituitary Hormone Deficiency, Combined, 4 30
24 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 47
25 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 16
26 ISL015 Isolated Growth Hormone Deficiency, Type Ib 42
27 PNC048 Pancreatic Lipase Deficiency 30
28 LRN002 Laron Syndrome 62
29 P GNR008 Generalized Resistance to Thyroid Hormone 40
30 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 53
31 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 27
32 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
33 ADR012 Adrenal Gland Disease 50
34 ACT238 Acth Deficiency, Isolated 50
35 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 46
36 P SLV026 Salivary Gland Carcinoma 56
37 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 30
38 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
39 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 57
40 SLV025 Salivary Gland Adenoma, Pleomorphic 36
41 LCR011 Lacrimal Gland Carcinoma 28
42 NRN044 Neuroendocrine Carcinoma of Pancreas 15
43 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 15
44 ADR054 Adrenocortical Carcinoma, Hereditary 59
45 SLV003 Salivary Gland Disease 51
46 ADR014 Adrenal Medulla Cancer 29
47 ISL001 Islet Cell Tumor 51
48 SWT002 Sweat Gland Cancer 42
49 P HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 32
50 c ACT027 Acute Pancreatitis 59
51 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 37
52 CMB021 Combined Pituitary Hormone Deficiency 41
53 P PNC045 Pancreatic Agenesis 39
54 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 30
55 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29
56 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 26
57 INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 15
58 PRR005 Paraurethral Gland Cancer 13
59 P ACT150 Acute Adrenal Insufficiency 44
60 PNC118 Pancreas, Annular 38
61 NNF001 Non-Functioning Pancreatic Endocrine Tumor 37
62 OST141 Osteoclastic Giant Cell Tumor of Pancreas 16
63 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 13
64 PNC029 Pancreatic Acth Hormone Producing Tumor 6
65 ADR003 Adrenal Neuroblastoma 26
66 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
67 ISL123 Isolated Growth Hormone Deficiency, Type Iv 20
68 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
69 PTT046 Pituitary Hormone Deficiency, Combined, 2 56
70 c PNC106 Pancreatic Agenesis 1 51
71 c ATM024 Autoimmune Pancreatitis 50
72 TRP008 Tropical Calcific Pancreatitis 50
73 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 44
74 GRW026 Growth Hormone Insensitivity, Partial 31
75 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 48
76 SWT004 Sweat Gland Neoplasm 37
77 HRM003 Hormone Producing Pituitary Cancer 36
78 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 35
79 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 34
80 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 33
81 THY053 Thyroid Hormone Plasma Membrane Transport Defect 11
82 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 9
83 GLC042 Glucocorticoid Deficiency 1 39
84 ACC005 Accessory Pancreas 16
85 MLG159 Malignant Pediatric Adrenal Gland Pheochromocytoma 6
86 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 42
87 GRD009 Gordon Holmes Syndrome 39
88 THY069 Thyroid Hormone Resistance, Selective Pituitary 26
89 KWR001 Kowarski Syndrome 23
90 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 22
91 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
92 c PNC105 Pancreatic Agenesis 2 17
93 c MLT156 Multiple Endocrine Neoplasia, Type I 71
94 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
95 c MLT086 Multiple Endocrine Neoplasia, Type Iv 54
96 P GRW001 Growth Hormone Secreting Pituitary Adenoma 42
97 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 40
98 c 46X051 46,xy Sex Reversal 1 39
99 c 46X055 46,xy Sex Reversal 3 34
100 BRT045 Bartholin's Gland Benign Neoplasm 33
101 P LYD011 Leydig Cell Hypoplasia 32
102 MXD003 Mixed Lacrimal Gland Cancer 32
103 THY039 Thyrotropin-Releasing Hormone Deficiency 31
104 c 46X057 46,xy Sex Reversal 8 29
105 c 46X049 46,xy Sex Reversal 2 28
106 c 46X048 46,xx Sex Reversal 2 27
107 TMR001 Tumor of Exocrine Pancreas 26
108 c 46X030 46,xy Sex Reversal 9 24
109 c 46X017 46,xy Sex Reversal 6 24
110 c 46X058 46,xy Sex Reversal 10 24
111 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 24
112 c 46X056 46,xy Sex Reversal 5 22
113 c 46X059 46,xx Sex Reversal 4 22
114 SBM004 Submandibular Gland Cancer 20
115 c 46X047 46,xy Sex Reversal 7 20
116 c 46X050 46,xx Sex Reversal 3 17
117 c 46X046 46,xy Sex Reversal 4 17
118 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 16
119 HYP746 Hypersecretion of Adrenal Androgens, Familial 10
120 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 8
121 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
122 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 3
123 ACR007 Acromegaly 70
124 P PNC044 Pancreatitis 62
125 PND002 Pendred Syndrome 58
126 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 52
127 ADR041 Adrenal Cortical Adenoma 46
128 APL002 Aplasia of Lacrimal and Salivary Glands 43
129 HDR004 Hidradenoma 42
130 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 34
131 PNC127 Pancreatic Adenosquamous Carcinoma 26
132 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 26
133 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 18
134 ISL124 Isolated Growth Hormone Deficiency, Type V 18
135 PTT043 Pituitary Hormone Deficiency, Combined, 6 16
136 PTT048 Pituitary Adenoma, Prolactin-Secreting 64
137 P HYP083 Hypopituitarism 58
138 c PRM093 Premature Ovarian Failure 7 44
139 c FML297 Familial Thyroid Dyshormonogenesis 39
140 P THY061 Thyroid Dyshormonogenesis 2a 32
141 SLL001 Sialolithiasis 30
142 PNC104 Pancreatic and Cerebellar Agenesis 27
143 c PRM089 Premature Ovarian Failure 3 26
144 c PRM192 Premature Ovarian Failure 8 25
145 CHL075 Cheilitis Glandularis 24
146 c PRM094 Premature Ovarian Failure 5 23
147 c PRM090 Premature Ovarian Failure 6 23
148 c PRM254 Premature Ovarian Failure 11 22
149 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
150 P PRM176 Premature Ovarian Failure 2a 22
151 c PRM207 Premature Ovarian Failure 10 21
152 THY064 Thyroid Hormone Metabolism, Abnormal 21
153 c PRM191 Premature Ovarian Failure 9 21
154 c PRM253 Premature Ovarian Failure 13 19
155 c PRM091 Premature Ovarian Failure 2b 19
156 c PRM255 Premature Ovarian Failure 12 18
157 FBR065 Fibrocalculous Pancreatopathy 18
158 c PRM295 Premature Ovarian Failure 15 17
159 c PRM292 Premature Ovarian Failure 14 16
160 SBL001 Sublingual Gland Cancer 11
161 LCR007 Lacrimal Gland Squamous Cell Carcinoma 11
162 c FML072 Familial Hypopituitarism 8
163 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 56
164 ECT093 Ectopic Cushing Syndrome 50
165 HYP189 Hypoadrenalism 42
166 c SCN052 Secondary Adrenal Insufficiency 42
167 WTR001 Waterhouse-Friderichsen Syndrome 41
168 ALC005 Alcoholic Pancreatitis 38
169 PNC002 Pancreatic Mucinous Cystadenoma 37
170 PNC006 Pancreatic Somatostatinoma 37
171 ATM078 Autoimmune Addison Disease 33
172 MCC003 Mucocele of Salivary Gland 29
173 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 24
174 c ATM064 Autoimmune Pancreatitis Type 1 20
175 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 20
176 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 18
177 CNG298 Congenital Pancreatic Cyst 18
178 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 16
179 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
180 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 11
181 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 8
182 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 7
183 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 6
184 PRR003 Paraurethral Gland Neoplasm 6
185 BRN010 Bronchial Mucus Gland Adenoma 6
186 PLM014 Pleomorphic Adenoma 56
187 P HYP076 Hyperthyroidism 55
188 P PTT006 Pituitary Adenoma 54
189 PRT030 Parathyroid Gland Disease 50
190 GRW007 Growth Hormone Deficiency 49
191 SLD003 Sialadenitis 48
192 SBC017 Sebaceous Gland Disease 47
193 INP001 Inappropriate Adh Syndrome 47
194 ADR022 Adrenomyeloneuropathy 43
195 GLN002 Glanders 42
196 SWT003 Sweat Gland Disease 41
197 ADR009 Adrenal Cortex Disease 40
198 BRT014 Bartholin's Duct Cyst 35
199 BRT060 Bartholin's Gland Disease 34
200 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 30
201 c THY071 Thyroid Dyshormonogenesis 1 28
202 MTC096 Mitchell-Riley Syndrome 23
203 PTT009 Pituitary Gland Disease 59
204 PNC034 Pancreas Disease 59
205 P PNB001 Pineoblastoma 52
206 ADR040 Adrenal Gland Pheochromocytoma 49
207 ULN003 Ulnar-Mammary Syndrome 48
208 PNC016 Pancreatic Cholera 42
209 PRL010 Prolactin Producing Pituitary Tumor 41
210 PNC019 Pancreatoblastoma 37
211 BRT012 Bartholin's Gland Adenoma 28
212 GLN006 Glandular Cystitis 27
213 c ADL025 Adult Pineoblastoma 27
214 GRW023 Growth Hormone Deficiency, Isolated Partial 26
215 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
216 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 22
217 PNC014 Pancreatic Serous Cystadenocarcinoma 19
218 PRP074 Peripheral Resistance to Thyroid Hormones 13
219 PNC009 Pancreas Sarcoma 12
220 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 11
221 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 10
222 BRT010 Bartholin's Gland Transitional Cell Carcinoma 10
223 PRT100 Parotid Gland Adenoid Cystic Carcinoma 9
224 YRF001 Yorifuji Okuno Syndrome 9
225 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 8
226 VGN021 Vaginal Glandular Tumor 7
227 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 7
228 MNR001 Minor Vestibular Glands Adenoma 7
229 BRT007 Bartholin's Gland Squamous Cell Carcinoma 7
230 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
231 VLV037 Vulvar Glandular Tumor 6
232 BRT009 Bartholin's Gland Adenomyoma 6
233 c SLV006 Salivary Gland Cancer, Adult 6
234 P HYP086 Hypothyroidism 66
235 P PLY011 Polycystic Ovary Syndrome 64
236 P HYP024 Hypoparathyroidism 55
237 c PTT057 Pituitary Adenoma 4, Acth-Secreting 54
238 P ACT010 Acth-Secreting Pituitary Adenoma 52
239 PNC056 Pineocytoma 50
240 THY030 Thyroid Gland Disease 50
241 TSH001 Tsh Producing Pituitary Tumor 50
242 FLL031 Follicular Adenoma 44
243 ADR010 Adrenal Cortical Hypofunction 43
244 c PLY105 Polycystic Ovary Syndrome 1 42
245 ALD013 Aldosterone-Producing Adenoma 41
246 HLX001 Helix Syndrome 40
247 PNC039 Pancreatic Cystadenoma 39
248 END038 Endocrine Pancreas Disease 39
249 c RCR022 Recurrent Acute Pancreatitis 39
250 PNC038 Pancreatic Cystadenocarcinoma 37
251 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 35
252 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 32
253 c PRG021 Paragangliomas 4 31
254 PNC028 Pancreatic Steatorrhea 31
255 EXT054 Extra-Adrenal Pheochromocytoma 31
256 c PRG020 Paragangliomas 3 30
257 ADR001 Adrenal Rest Tumor 29
258 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 29
259 PNC027 Pancreatic Gastrinoma 28
260 THY026 Thymus Gland Disease 28
261 c NNS018 Nonsyndromic Paraganglioma 28
262 c PRG019 Paragangliomas 2 27
263 c THY056 Thyroid Dyshormonogenesis 3 26
264 c ATM068 Autoimmune Hypoparathyroidism 26
265 c THY063 Thyroid Dyshormonogenesis 4 25
266 SBM003 Submandibular Gland Disease 25
267 c MLG048 Malignant Acrospiroma 25
268 APC009 Apocrine Gland Secretion, Variation in 25
269 FNC003 Functionless Pituitary Adenoma 24
270 HYP705 Hyperadrenalism 23
271 DPL009 Duplication of the Pituitary Gland 22
272 CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 22
273 P ACR049 Acrospiroma 22
274 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
275 c PRG094 Paragangliomas 5 21
276 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 20
277 c THY110 Thyroid Dyshormonogenesis 6 20
278 PPM002 Ppoma 19
279 BLT017 Bilateral Massive Adrenal Hemorrhage 19
280 c THY062 Thyroid Dyshormonogenesis 5 18
281 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 18
282 ADN072 Adenoma of Pancreas 17
283 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 16
284 c ATM063 Autoimmune Pancreatitis Type 2 15
285 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 13
286 PNC024 Pancreatic Colloid Cystadenoma 13
287 SQM014 Squamous Cell Carcinoma of Pancreas 13
288 TNG006 Tunglang Savage Bellman Syndrome 12
289 PNC017 Pancreatic Serous Cystic Neoplasm 9
290 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
291 SLV014 Salivary Gland Type Cancer of the Breast 8
292 FLL045 Follicular Cholangitis and Pancreatitis 8
293 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
294 PNC007 Pancreas Lymphoma 7
295 FNC012 Functioning Pancreatic Endocrine Tumor 7
296 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
297 PNC031 Pancreatic Foamy Gland Adenocarcinoma 7
298 ANL002 Anal Gland Neoplasm 7
299 PNC037 Pancreatic Colloid Cystadenocarcinoma 6
300 CHR002 Chronic Lacrimal Gland Enlargement 6
301 PRL002 Prolapse of Lacrimal Gland 6
302 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 6
303 PNC040 Pancreatic Delta Cell Neoplasm 6
304 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
305 ADR006 Adrenal Gland Ganglioneuroblastoma 5
306 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
307 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 3
308 SLV007 Salivary Gland Cancer, Childhood 3
309 RSS003 Resistance to Lh 3
310 P MMP001 Mumps 61
311 c CNG006 Congenital Hypothyroidism 59
312 PRT029 Parathyroid Adenoma 52
313 EMP001 Empty Sella Syndrome 43
314 MBM001 Meibomian Cyst 41
315 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 25
316 c PTT060 Pituitary Adenoma 5, Multiple Types 17
317 c CNG110 Congenital Mumps 8
318 ADN018 Adenoma 64
319 INS001 Insulinoma 64
320 P HYP069 Hyperparathyroidism 59
321 c PSD066 Pseudohypoparathyroidism, Type Ib 53
322 SHH001 Sheehan Syndrome 50
323 CLL036 Culler-Jones Syndrome 46
324 EXC002 Exocrine Pancreatic Insufficiency 41
325 P HYP120 Hypoaldosteronism 40
326 ECC002 Eccrine Acrospiroma 39
327 MKL001 Mikulicz Disease 39
328 PPL017 Papillary Hidradenoma 36
329 WDH001 Wdha Syndrome 34
330 PNC018 Pancreatic Serous Cystadenoma 34
331 ADR023 Adrenomyodystrophy 32
332 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 32
333 CYT014 Cytochrome P450 Oxidoreductase Deficiency 30
334 VST005 Vestibular Gland Benign Neoplasm 27
335 c HYP311 Hyperparathyroidism 3 25
336 MRT009 Martinez-Frias Syndrome 20
337 c HYP720 Hyperparathyroidism 4 19
338 PNC126 Pancreatic Squamous Cell Carcinoma 18
339 PNC049 Pancreatic Adenoma 17
340 HYP611 Hypoparathyroidism, X-Linked 16
341 GLN001 Glandular Tularemia 16
342 c FML275 Familial Hypoaldosteronism 12
343 CWP002 Cowper Gland Carcinoma 11
344 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 10
345 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 7
346 PNC055 Pancreatitis, Pediatric 6
347 LTT003 Littre Gland Carcinoma 6
348 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
349 P GRV001 Graves' Disease 61
350 P PRG013 Paraganglioma 58
351 c HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 57
352 MST005 Mastitis 57
353 c GRV008 Graves Disease 1 57
354 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 55
355 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 54
356 P THY054 Thyrotoxic Periodic Paralysis 52
357 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 52
358 PTT004 Pituitary Apoplexy 50
359 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 49
360 P ATM019 Autoimmune Polyendocrine Syndrome 48
361 CRT046 Corticosteroid-Binding Globulin Deficiency 45
362 CHR034 Chromophobe Adenoma 44
363 FXF002 Fox-Fordyce Disease 40
364 NNF007 Non-Functioning Pituitary Adenoma 39
365 FNC007 Functioning Pituitary Adenoma 37
366 GGN002 Gigantism 36
367 PPL001 Papillary Adenoma 35
368 SBC009 Sebaceous Adenoma 34
369 c THY084 Thyrotoxic Periodic Paralysis 1 33
370 ATM061 Autoimmune Polyglandular Syndrome Type 3 32
371 PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 31
372 CLL009 Colloid Carcinoma of the Pancreas 31
373 c THY083 Thyrotoxic Periodic Paralysis 2 30
374 PTT001 Pituitary Hypoplasia 29
375 IDP085 Idiopathic Infantile Hypercalcemia 28
376 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 28
377 THY016 Thyroid Hurthle Cell Adenoma 26
378 SLN005 Silent Pituitary Adenoma 24
379 ACR079 Acrodysostosis with Multiple Hormone Resistance 23
380 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 20
381 BSP001 Basophil Adenoma 20
382 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 19
383 c PTT061 Pituitary Adenoma 3, Multiple Types 19
384 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 18
385 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 18
386 GRF006 Grfoma 18
387 SMT017 Somatomammotropinoma 18
388 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 16
389 PNL001 Pineal Gland Astrocytoma 15
390 CHF001 Chief Cell Adenoma 14
391 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 14
392 GLC107 Glucocorticoid Deficiency 5 14
393 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 14
394 IGG012 Igg4-Related Submandibular Gland Disease 14
395 TRY003 Trypsinogen Deficiency 13
396 PRM146 Primary Unilateral Adrenal Hyperplasia 13
397 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 13
398 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
399 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
400 ECT055 Ectopic Aldosterone-Producing Tumor 11
401 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 11
402 c THY119 Thyrotoxic Periodic Paralysis 3 11
403 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
404 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 10
405 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 10
406 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 10
407 PNC123 Pancreatic Insufficiency, Combined Exocrine 10
408 c GRV009 Graves Disease 2 10
409 ECT097 Ectodermal Dysplasia with Adrenal Cyst 9
410 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
411 URT019 Urethral Gland Abscess 7
412 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
413 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
414 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
415 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
416 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 6
417 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 6
418 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
419 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
420 c PRS050 Prss1-Related Hereditary Pancreatitis 6
421 PNC125 Pancreatic Lymphoma, Familial 6
422 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
423 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
424 PRT020 Parathyroid Oncocytic Adenoma 5
425 BLN023 Bile and Pancreatic Ducts, Complete Absence of 5
426 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 5
427 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 5
428 PNC026 Pancreatic Mucinous Ductal Ectasia 5
429 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
430 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 5
431 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
432 FRS005 Fraser Jequier Chen Syndrome 4
433 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 3
434 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 1
435 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 92
436 P ATX030 Ataxia-Telangiectasia 82
437 P NNN008 Noonan Syndrome 1 78
438 P SRC025 Sarcoidosis 1 76
439 c HMC039 Hemochromatosis, Type 1 74
440 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
441 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 72
442 c HPT073 Hepatitis C Virus 72
443 VNH007 Von Hippel-Lindau Syndrome 72
444 ADR007 Adrenoleukodystrophy 71
445 P TRN020 Turner Syndrome 71
446 P ALG028 Alagille Syndrome 1 70
447 c HPT016 Hepatitis B 70
448 c HPT001 Hepatitis C 69
449 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 69
450 P FRG001 Fragile X Syndrome 69
451 c PRM196 Premature Ovarian Failure 1 68
452 SMT004 Smith-Lemli-Opitz Syndrome 68
453 LVR012 Liver Cirrhosis 67
454 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
455 c GLY008 Glycogen Storage Disease Ii 66
456 c NNN010 Noonan Syndrome 3 65
457 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
458 P THL005 Thalassemia 65
459 CRB011 Cerebrotendinous Xanthomatosis 64
460 c CNG411 Congenital Disorder of Glycosylation, Type in 64
461 P LPR021 Leprosy 3 63
462 TNG002 Tangier Disease 63
463 P OVR049 Ovarian Disease 63
464 P PLY014 Polycystic Kidney Disease 62
465 P GLY013 Glycogen Storage Disease 61
466 P MTR004 Maturity-Onset Diabetes of the Young 61
467 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
468 P PRT013 Portal Hypertension 61
469 VSC003 Visceral Leishmaniasis 61
470 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60
471 DNH001 Donohue Syndrome 60
472 P WLF004 Wolfram Syndrome 60
473 LYS012 Lysosomal Acid Lipase Deficiency 60
474 HPT046 Hepatic Veno-Occlusive Disease 60
475 CFF002 Coffin-Lowry Syndrome 59
476 c MYT020 Myotonic Dystrophy 2 58
477 c PRX045 Peroxisome Biogenesis Disorder 1b 58
478 c CRP023 Carpenter Syndrome 1 58
479 HYP730 Hypogonadotropic Hypogonadism 58
480 HYP060 Hyperinsulinism 57
481 SMT008 Smith-Magenis Syndrome 57
482 P VND007 Van Der Woude Syndrome 1 57
483 ECT006 Ectodermal Dysplasia 56
484 c SCN007 Secondary Hyperparathyroidism 55
485 P HYP050 Hyperinsulinemic Hypoglycemia 55
486 c HPT007 Hepatitis E 55
487 c WLF013 Wolfram Syndrome 1 55
488 P DBT005 Diabetes Insipidus 55
489 c NNN012 Noonan Syndrome 5 55
490 GTR002 Goiter 54
491 LPR001 Lepromatous Leprosy 54
492 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
493 c NNN009 Noonan Syndrome 2 53
494 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 53
495 P THY032 Thyroiditis 53
496 HYP080 Hypogonadism 53
497 ALV002 Alveolar Echinococcosis 52
498 P OVR046 Ovarian Cyst 52
499 c HPT015 Hepatitis D 52
500 HPT009 Hepatopulmonary Syndrome 52
501 c CNG012 Congenital Generalized Lipodystrophy 52
502 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
503 P MYT002 Myotonic Dystrophy 52
504 c MCR256 Microphthalmia, Syndromic 9 52
505 HDR003 Hidradenitis 52
506 c CNT075 Central Precocious Puberty 52
507 P PSD015 Pseudohypoparathyroidism 51
508 c BRD012 Bardet-Biedl Syndrome 11 51
509 MNN042 Meningioma, Radiation-Induced 51
510 P GND004 Gonadal Dysgenesis 51
511 NNT017 Neonatal Adrenoleukodystrophy 51
512 c PRX059 Peroxisome Biogenesis Disorder 1a 50
513 P BRS053 Breast Fibroadenoma 50
514 FSH001 Fish-Eye Disease 50
515 DBT004 Diabetic Polyneuropathy 50
516 HYP043 Hyperandrogenism 50
517 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
518 GLC036 Glucagonoma 50
519 HYP347 Hypotonia-Cystinuria Syndrome 50
520 DRM013 Dermoid Cyst 49
521 ANV001 Anovulation 49
522 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 49
523 GND003 Gonadal Disease 49
524 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
525 SXD002 Sex Development Disorder 49
526 c BRD044 Bardet-Biedl Syndrome 17 48
527 TBR006 Tuberculoid Leprosy 48
528 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
529 HYP741 Hyperparathyroidism 2 with Jaw Tumors 48
530 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
531 P TYR004 Tyrosinemia 48
532 JHN001 Johanson-Blizzard Syndrome 48
533 c HMC010 Hemochromatosis, Type 3 47
534 GYN001 Gynecomastia 47
535 P NNT009 Neonatal Diabetes Mellitus 47
536 DWR001 Dwarfism 47
537 c HMC035 Hemochromatosis, Type 4 47
538 PRS042 Prostate Disease 47
539 NDL007 Nodular Goiter 47
540 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 47
541 c BRD032 Bardet-Biedl Syndrome 14 47
542 P PSD003 Pseudohypoaldosteronism 46
543 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
544 HYP085 Hypothalamic Disease 46
545 c HMC009 Hemochromatosis Type 2 46
546 P PRT026 Parotitis 46
547 c NNN013 Noonan Syndrome 6 45
548 PRS127 Pearson Marrow-Pancreas Syndrome 45
549 c BRD020 Bardet-Biedl Syndrome 8 45
550 GLC106 Glucocorticoid Resistance, Generalized 45
551 LPP002 Lipoprotein Glomerulopathy 45
552 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
553 c BRD033 Bardet-Biedl Syndrome 13 45
554 MRG013 Mirage Syndrome 45
555 P OVR010 Ovarian Brenner Tumor 45
556 c LPD019 Lipodystrophy, Partial, Acquired 44
557 c SHR030 Short Qt Syndrome 44
558 P JVN024 Juvenile Hereditary Hemochromatosis 44
559 PRM013 Premature Menopause 44
560 c BRD011 Bardet-Biedl Syndrome 10 44
561 PSD009 Pseudohermaphroditism 44
562 ACD008 Acid-Labile Subunit Deficiency 44
563 c BRD018 Bardet-Biedl Syndrome 6 44
564 c TRN032 Transient Neonatal Diabetes Mellitus 44
565 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
566 PTT003 Pituitary-Dependent Cushing's Disease 43
567 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 43
568 c TYR011 Tyrosinemia, Type Iii 43
569 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
570 MYX004 Myxedema 43
571 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
572 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 43
573 P MLT008 Multinodular Goiter 43
574 c NNN011 Noonan Syndrome 4 42
575 c SBC007 Subacute Thyroiditis 42
576 HYP064 Hypogonadotropism 42
577 c BRD048 Bardet-Biedl Syndrome 18 42
578 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 42
579 P MCR241 Microphthalmia, Syndromic 3 42
580 DBT090 Diabetes and Deafness, Maternally Inherited 42
581 ETH004 Euthyroid Sick Syndrome 42
582 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
583 DYS101 Dysgerminoma 42
584 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
585 c BRD035 Bardet-Biedl Syndrome 15 42
586 EST004 Estrogen Excess 42
587 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
588 HYP070 Hyperpituitarism 42
589 c HLP024 Holoprosencephaly 2 42
590 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
591 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 41
592 HRM002 Hermaphroditism 41
593 HRT040 Hirata Disease 41
594 c HMC021 Hemochromatosis, Type 2a 41
595 c HLP026 Holoprosencephaly 3 41
596 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
597 c GLY023 Glycogen Storage Disease Type 0 41
598 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
599 c GLY098 Glycogen Storage Disease, Type Ixd 41
600 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
601 OVR051 Ovarian Endodermal Sinus Tumor 41
602 c HLP029 Holoprosencephaly 4 40
603 c MCR263 Microphthalmia, Syndromic 1 40
604 c MCR261 Microphthalmia, Syndromic 2 40
605 ORC001 Orchitis 40
606 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 40
607 WRT003 Warthin Tumor 39
608 c BRD017 Bardet-Biedl Syndrome 5 39
609 c MLG059 Malignant Struma Ovarii 39
610 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
611 MLR009 Miliaria 39
612 c NNN021 Noonan Syndrome 8 39
613 c NNN024 Noonan Syndrome 9 39
614 c PSD092 Pseudohypoaldosteronism, Type Iie 39
615 ADN064 Adenohypophysitis 39
616 TRP009 Triple X Syndrome 39
617 c 46X002 46 Xx Gonadal Dysgenesis 39
618 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 38
619 c BLR024 Biliary Cirrhosis, Primary, 1 38
620 PLM011 Plummer's Disease 38
621 P SRT003 Sertoli-Leydig Cell Tumor 38
622 SML028 Semilobar Holoprosencephaly 38
623 LCT003 Lactocele 38
624 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
625 ALB014 Alobar Holoprosencephaly 37
626 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 37
627 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
628 c NNN025 Noonan Syndrome 10 37
629 HPT006 Hepatic Angiomyolipoma 37
630 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
631 P STR021 Struma Ovarii 37
632 OHD005 Ohdo Syndrome, Sbbys Variant 37
633 THY007 Thymus Lipoma 37
634 c GLY016 Glycogen Storage Disease Ib 37
635 THY001 Thyroid Crisis 37
636 c BRD045 Bardet-Biedl Syndrome 19 36
637 LBR025 Lobar Holoprosencephaly 36
638 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
639 LMB008 Limb-Mammary Syndrome 36
640 c CNG379 Congenital Disorder of Glycosylation, Type It 36
641 END011 Endometriosis of Ovary 36
642 ATH010 Athyreosis 36
643 OVR109 Ovarian Germ Cell Teratoma 36
644 OVR017 Ovarian Cystic Teratoma 36
645 ADN075 Adenomyoma 35
646 c BRD047 Bardet-Biedl Syndrome 16 35
647 49X002 49,xxxxy Syndrome 35
648 c NNN020 Noonan Syndrome 7 35
649 c MLG157 Malignant Pheochromocytoma 35
650 NNT010 Nontoxic Goiter 35
651 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 35
652 PLR023 Polr3-Related Leukodystrophy 35
653 SCH071 Schaaf-Yang Syndrome 34
654 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
655 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 34
656 LCL022 Localized Lipodystrophy 34
657 P MXD016 Mixed Gonadal Dysgenesis 34
658 c OVR075 Ovarian Dysgenesis 1 34
659 TMP012 Temple Syndrome 34
660 DYS017 Dysgerminoma of Ovary 34
661 LTM002 Luteoma 34
662 c HLP028 Holoprosencephaly 5 34
663 c GLY057 Glycogen Storage Disease X 33
664 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
665 P SRT002 Sertoli Cell Tumor 33
666 48X003 48,xxyy Syndrome 33
667 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 33
668 THY003 Thymic Dysplasia 33
669 EPS001 Epstein-Barr Virus Hepatitis 33
670 c BRD019 Bardet-Biedl Syndrome 7 33
671 c MCR251 Microphthalmia, Syndromic 6 33
672 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 33
673 c PRX055 Peroxisome Biogenesis Disorder 11a 33
674 RTN072 Retinohepatoendocrinologic Syndrome 32
675 SPT016 Septopreoptic Holoprosencephaly 32
676 c LPR022 Leprosy 2 32
677 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
678 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
679 CYS015 Cystadenofibroma 32
680 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
681 PST014 Postsurgical Hypothyroidism 32
682 c RBN008 Rubinstein-Taybi Syndrome 2 32
683 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 32
684 GRN009 Granulomatous Hepatitis 32
685 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
686 c PRX060 Peroxisome Biogenesis Disorder 5a 32
687 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
688 c HMC034 Hemochromatosis, Type 5 32
689 c BNG029 Benign Struma Ovarii 31
690 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
691 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
692 c CNG188 Congenital Disorder of Glycosylation, Type if 31
693 OVR048 Ovarian Cystadenoma 31
694 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
695 c CNT101 Central Congenital Hypothyroidism 31
696 c PSD090 Pseudohypoaldosteronism, Type Iia 31
697 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
698 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 31
699 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 30
700 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 30
701 c PRX056 Peroxisome Biogenesis Disorder 11b 30
702 ACD001 Acidophil Adenoma 30
703 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
704 BRD005 Borderline Leprosy 30
705 MCR014 Microcystic Adenoma 30
706 CRT005 Cortical Thymoma 30
707 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
708 c GLY017 Glycogen Storage Disease Ic 30
709 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
710 c TYP010 Type C Thymoma 29
711 PTT016 Patterson Pseudoleprechaunism Syndrome 29
712 c TYP035 Type 1 Diabetes Mellitus 11 29
713 c PRX063 Peroxisome Biogenesis Disorder 2a 29
714 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
715 c PRX050 Peroxisome Biogenesis Disorder 9b 29
716 c ACT053 Acute Thyroiditis 29
717 IDP034 Idiopathic Central Precocious Puberty 29
718 c PRX048 Peroxisome Biogenesis Disorder 10a 29
719 NNT003 Neonatal Thyrotoxicosis 29
720 c PRX051 Peroxisome Biogenesis Disorder 6a 29
721 P OVR076 Ovarian Dysgenesis 2 29
722 c GLY043 Glycogen Storage Disease Xii 28
723 c MCR252 Microphthalmia, Syndromic 5 28
724 GGN004 Gigantomastia 28
725 c PRX053 Peroxisome Biogenesis Disorder 14b 28
726 CRT020 Cortisone Reductase Deficiency 28
727 MXD027 Mixed Type Thymoma 28
728 HYP029 Hyperthyroxinemia 28
729 c PRX054 Peroxisome Biogenesis Disorder 12a 28
730 c TYP037 Type 1 Diabetes Mellitus 13 28
731 PTT010 Pituitary Infarct 28
732 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
733 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
734 c BRD021 Bardet-Biedl Syndrome 9 28
735 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
736 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
737 c MCR245 Microphthalmia, Syndromic 8 27
738 c NPH102 Nephrotic Syndrome, Type 14 27
739 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
740 c BRD050 Bardet-Biedl Syndrome 21 27
741 TTR013 Tetrasomy X 27
742 ECT003 Ectopic Thymus 27
743 c TYP033 Type 1 Diabetes Mellitus 7 27
744 c HLP025 Holoprosencephaly 9 27
745 TXC004 Toxic Diffuse Goiter 27
746 SBS002 Substernal Goiter 27
747 c CRP022 Carpenter Syndrome 2 27
748 c PRX065 Peroxisome Biogenesis Disorder 3a 27
749 c MCR312 Microphthalmia, Syndromic 10 26
750 c PRX043 Peroxisome Biogenesis Disorder 6b 26
751 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 26
752 c PRR026 Perrault Syndrome 5 26
753 CPL001 Capillariasis 26
754 MCN003 Mucinous Ovarian Cystadenoma 26
755 c MCR212 Microphthalmia, Syndromic 12 26
756 SPN048 Spindle Cell Thymoma 26
757 c TYP028 Type 1 Diabetes Mellitus 2 26
758 PDT003 Pediatric Ovarian Dysgerminoma 26
759 c TYP031 Type 1 Diabetes Mellitus 5 26
760 SPP005 Suppurative Thyroiditis 26
761 c PRX046 Peroxisome Biogenesis Disorder 7a 26
762 MTR011 Mature Teratoma of the Ovary 26
763 OVR056 Ovarian Primitive Germ Cell Tumor 25
764 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 25
765 c PSD093 Pseudohypoaldosteronism, Type Iid 25
766 c PRX057 Peroxisome Biogenesis Disorder 4a 25
767 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
768 DND003 Dendritic Cell Thymoma 25
769 OVR003 Ovarian Angiosarcoma 25
770 IMM005 Immature Teratoma of Ovary 25
771 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 25
772 ATY007 Atypical Follicular Adenoma 25
773 PGD001 Pagod Syndrome 25
774 c PRX091 Peroxisome Biogenesis Disorder 8a 25
775 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
776 PNL011 Pineal Region Germinoma 25
777 FNC050 Functioning Gonadotropic Adenoma 25
778 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
779 c PRX058 Peroxisome Biogenesis Disorder 4b 25
780 c PRX047 Peroxisome Biogenesis Disorder 5b 25
781 MTC025 Mitochondrial Myopathy with Diabetes 25
782 IND004 Indeterminate Leprosy 25
783 OVR001 Ovarian Stromal Hyperthecosis 25
784 PNL023 Penile Agenesis 25
785 c TYP032 Type 1 Diabetes Mellitus 6 25
786 c TYP036 Type 1 Diabetes Mellitus 12 24
787 UVP001 Uveoparotid Fever 24
788 c PSD047 Pseudo-Turner Syndrome 24
789 c HLP027 Holoprosencephaly 7 24
790 c BRD051 Bardet-Biedl Syndrome 20 24
791 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 24
792 c SHR032 Short Qt Syndrome 2 24
793 P KNN002 Kenny-Caffey Syndrome 24
794 c MCR228 Microphthalmia, Syndromic 13 24
795 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 24
796 c HMC019 Hemochromatosis, Type 2b 24
797 c TYP027 Type 1 Diabetes Mellitus 10 24
798 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 24
799 c PRX052 Peroxisome Biogenesis Disorder 13a 24
800 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 24
801 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 24
802 THY098 Thyroid Ectopia 24
803 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
804 c SHR031 Short Qt Syndrome 1 24
805 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 24
806 CRP004 Corpus Luteum Cyst 24
807 c HLP016 Holoprosencephaly 11 24
808 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 24
809 P ATM067 Autoimmune Polyendocrinopathy Type 3 24
810 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 23
811 c TYP038 Type 1 Diabetes Mellitus 15 23
812 ENC001 Encapsulated Thymoma 23
813 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 23
814 c GLY001 Glycogen Storage Disease Ix 23
815 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 23
816 CRT065 Cortisone Reductase Deficiency 1 23
817 c PRX062 Peroxisome Biogenesis Disorder 8b 23
818 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 23
819 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 23
820 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 23
821 CRT066 Cortisone Reductase Deficiency 2 23
822 c PRC047 Precocious Puberty, Central, 1 23
823 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 23
824 GNT043 Genitopalatocardiac Syndrome 23
825 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 23
826 c PRR021 Perrault Syndrome 4 22
827 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
828 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
829 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 22
830 48X002 48,xxxy Syndrome 22
831 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
832 FRM001 Freemartinism 22
833 c MCR217 Microphthalmia, Syndromic 11 22
834 MSC089 Mosaic Monosomy X 22
835 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
836 c MLG022 Malignant Sertoli Cell Tumor 22
837 OVR002 Ovarian Serous Cystadenofibroma 22
838 c OVR107 Ovarian Dysgenesis 4 22
839 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 22
840 c MLG053 Malignant Ovarian Brenner Tumor 22
841 c VND004 Van Der Woude Syndrome 2 22
842 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 22
843 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 22
844 c HLP022 Holoprosencephaly 8 21
845 c MCR262 Microphthalmia, Syndromic 4 21
846 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 21
847 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 21
848 c ATM066 Autoimmune Polyendocrinopathy Type 4 21
849 c PRC046 Precocious Puberty, Central, 2 21
850 P TTR028 Tetraamelia Syndrome 1 21
851 c SHR033 Short Qt Syndrome 3 21
852 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 21
853 c TYP039 Type 1 Diabetes Mellitus 17 21
854 MCN010 Mucinous Cystadenofibroma 21
855 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
856 c PSD094 Pseudohypoaldosteronism, Type Iib 21
857 c PRX068 Peroxisome Biogenesis Disorder 7b 21
858 CLL011 Colloid Adenoma 21
859 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 21
860 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
861 c PRX066 Peroxisome Biogenesis Disorder 3b 21
862 c PRX089 Peroxisome Biogenesis Disorder 10b 21
863 PNB003 Pineoblastoma, Childhood 20
864 THY004 Thyroid Angiosarcoma 20
865 c LPR023 Leprosy 1 20
866 PNL021 Pineal Cyst 20
867 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
868 OVR057 Ovarian Serous Adenofibroma 20
869 IGG015 Igg4-Related Thyroid Disease 20
870 P PRX064 Peroxisome Biogenesis Disorder 2b 20
871 c MLG033 Malignant Ovarian Cyst 20
872 BNG086 Bangstad Syndrome 20
873 PNH004 Panhypophysitis 20
874 INS009 Insulin-Resistance Type B 20
875 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 20
876 NNF008 Non-Functioning Paraganglioma 19
877 PRD041 Periodic Fever, Menstrual Cycle-Dependent 19
878 c OVR115 Ovarian Dysgenesis 5 19
879 c PRR022 Perrault Syndrome 2 19
880 c PSD068 Pseudohypoaldosteronism, Type Iic 19
881 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 19
882 PLY115 Polyendocrine-Polyneuropathy Syndrome 19
883 ENC002 Eunuchism 19
884 c GLY093 Glycogen Storage Disease Ixa 19
885 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 19
886 c TRN053 Transient Pseudohypoaldosteronism 19
887 c OVR102 Ovarian Dysgenesis 3 19
888 DYS008 Dyshormonogenic Goiter 19
889 DST037 Distal Monosomy 9p 19
890 ATR009 Atrophy of Testis 19
891 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 19
892 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
893 c TYP040 Type 1 Diabetes Mellitus 18 18
894 c OVR119 Ovarian Dysgenesis 7 18
895 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 18
896 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
897 c BLR016 Biliary Cirrhosis, Primary, 2 18
898 c PLY141 Polycystic Kidney Disease 5 18
899 c PRR033 Perrault Syndrome 6 18
900 LTN011 Late-Onset Isolated Acth Deficiency 18
901 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 18
902 TTR018 Tetragametic Chimerism 18
903 c TTR029 Tetraamelia Syndrome 2 18
904 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 18
905 HYP645 Hyperthyroxinemia, Dystransthyretinemic 18
906 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 18
907 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 18
908 c OVR120 Ovarian Dysgenesis 8 18
909 c LPR017 Leprosy 5 17
910 PNL003 Pineal Region Meningioma 17
911 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 17
912 P SLP004 Salpingo-Oophoritis 17
913 c MLT120 Multiple Fibroadenomas of the Breast 17
914 MYP026 Myopathy - Thyrotoxic 17
915 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
916 c SRC024 Sarcoidosis 3 17
917 c TYP029 Type 1 Diabetes Mellitus 3 17
918 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 17
919 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
920 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 17
921 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 17
922 c TYP030 Type 1 Diabetes Mellitus 4 16
923 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 16
924 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 16
925 HRD017 Hordeolum Externum 16
926 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 16
927 BMF002 Bamforth Syndrome 16
928 c OVR118 Ovarian Dysgenesis 6 16
929 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 16
930 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
931 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 16
932 PDT046 Pediatric-Onset Graves Disease 16
933 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 15
934 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
935 OVR037 Ovarian Solid Teratoma 15
936 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 15
937 GRN002 Granulomatous Orchitis 15
938 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
939 c TYP034 Type 1 Diabetes Mellitus 8 15
940 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
941 c NNS019 Nonsyndromic Holoprosencephaly 15
942 c LPR020 Leprosy 6 15
943 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 15
944 c LPR016 Leprosy 4 15
945 PRT021 Parathyroid Transitional Clear Cell Adenoma 15
946 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
947 PLY009 Polyembryoma of the Ovary 14
948 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
949 OVR009 Ovarian Gonadoblastoma 14
950 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 14
951 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 14
952 c TFR001 Tfr2-Related Hereditary Hemochromatosis 14
953 c HLP021 Holoprosencephaly 6 14
954 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
955 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
956 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 14
957 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 14
958 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 14
959 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 14
960 KLL013 Kallmann Syndrome-Heart Disease Syndrome 14
961 MXD024 Mixed Epithelial Tumor of Ovary 14
962 CMB001 Combined Thymoma 13
963 6Q1002 6q16 Microdeletion Syndrome 13
964 P HYP284 Hypospadias 1, X-Linked 13
965 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 13
966 XLN113 X-Linked Intellectual Disability, Van Esch Type 13
967 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
968 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
969 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
970 XSM001 X Small Rings 13
971 PLY003 Polycystic Echinococcosis 13
972 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 13
973 c KLL008 Kallmann Syndrome 6 13
974 THY020 Thyroid Hyalinizing Trabecular Adenoma 12
975 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 12
976 OVR039 Ovarian Mesodermal Adenosarcoma 12
977 MYX002 Myxoid Liposarcoma of the Ovary 12
978 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 12
979 CLR006 Clear Cell Cystadenofibroma 12
980 c GTR013 Goiter, Multinodular 2 12
981 c BLR017 Biliary Cirrhosis, Primary, 3 12
982 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
983 46X015 46,xy Ovotesticular Disorder of Sex Development 12
984 LPS003 Liposarcoma of the Ovary 12
985 c HYP270 Hypospadias 2, X-Linked 12
986 P OVR045 Ovarian Clear Cell Adenofibroma 12
987 OVR038 Ovarian Fetiform Teratoma 12
988 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 12
989 c MYC055 Mycobacterium Tuberculosis 3 12
990 c BDY013 Body Mass Index Quantitative Trait Locus 5 12
991 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
992 c KLL005 Kallmann Syndrome 3 11
993 c CHR018 Chronic Salpingo-Oophoritis 11
994 NLL003 Null Pituitary Adenoma 11
995 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
996 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
997 c BLR025 Biliary Cirrhosis, Primary, 4 11
998 c BDY014 Body Mass Index Quantitative Trait Locus 6 11
999 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
1000 c BDY008 Body Mass Index Quantitative Trait Locus 2 11
1001 PNN006 Panniculitis-Induced Localized Lipodystrophy 11
1002 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
1003 c GTR014 Goiter, Multinodular 3 11
1004 RDL003 Riedel's Fibrosing Thyroiditis 10
1005 c BLR026 Biliary Cirrhosis, Primary, 5 10
1006 c KLL007 Kallmann Syndrome 5 10
1007 INT222 Intermediate Dend Syndrome 10
1008 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
1009 c BDY018 Body Mass Index Quantitative Trait Locus 15 10
1010 IDP061 Idiopathic Congenital Hypothyroidism 10
1011 ABN002 Abnormality of Glucagon Secretion 10
1012 GNT039 Genetic Transient Congenital Hypothyroidism 10
1013 c SCN039 Secondary Central Precocious Puberty 9
1014 P OVR052 Ovarian Endometrioid Adenofibroma 9
1015 c KLL006 Kallmann Syndrome 4 9
1016 BRS039 Breast Fibroadenosis 9
1017 PNL005 Pineal Region Immature Teratoma 9
1018 c MYC054 Mycobacterium Tuberculosis 2 9
1019 IDN001 Iodine Hypothyroidism 8
1020 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
1021 c PLY176 Polycystic Kidney Disease 4 8
1022 OVR008 Ovarian Mucinous Cystadenofibroma 8
1023 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8
1024 OVR023 Ovary Rhabdomyosarcoma 8
1025 PNL015 Pineal Region Teratoma 8
1026 c MLG034 Malignant Type a Thymoma 8
1027 c MLG040 Malignant Type Ab Thymoma 8
1028 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
1029 TST008 Testis Polyembryoma 8
1030 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 8
1031 OVR031 Ovarian Papillary Cystadenoma 8
1032 TST011 Testis Rhabdomyosarcoma 8
1033 LNG018 Lingual Goiter 8
1034 TBR005 Tuberculous Oophoritis 7
1035 c HYP653 Hypospadias 4, X-Linked 7
1036 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
1037 P OVR053 Ovarian Mucinous Adenofibroma 7
1038 PNL004 Pineal Region Mature Teratoma 7
1039 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1040 OVR032 Ovarian Surface Papilloma 7
1041 CHL036 Childhood Mature Teratoma of the Ovary 7
1042 CHL063 Childhood Teratoma of the Ovary 7
1043 CHL011 Childhood Immature Teratoma of Ovary 7
1044 c MLG021 Malignant Sertoli-Leydig Cell Tumor 7
1045 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
1046 c ACT031 Acute Salpingo-Oophoritis 7
1047 IDN004 Iodine Antenatal Exposure 6
1048 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1049 OVR019 Ovarian Malignant Mesothelioma 6
1050 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 6
1051 c PRT125 Parotitis, Juvenile Recurrent 6
1052 MKT001 Mikati-Najjar-Sahli Syndrome 6
1053 P SYC001 Say Carpenter Syndrome 5
1054 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1055 PST024 Post-Surgical Hypoinsulinemia 5
1056 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 5
1057 OVR014 Ovarian Clear Cell Cystadenofibroma 5
1058 OVR036 Ovarian Endometrioid Cystadenofibroma 5
1059 OVR007 Ovarian Endometrioid Cystadenoma 5
1060 MXD004 Mixed Eosinophil-Basophil Adenoma 5
1061 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
1062 SPR069 Sporadic Secreting Paraganglioma 5
1063 PNL008 Pineal Dysgerminoma 5
1064 c FRG006 Fragile X Syndrome Type 3 4
1065 c FRG004 Fragile X Syndrome Type 1 4
1066 c FRG005 Fragile X Syndrome Type 2 4
1067 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
1068 HYP175 Hyper-Reninism 4
1069 THY021 Thyroid Malformation 4
1070 THY002 Thyrocalcitonin Secretion Disease 4
1071 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 4
1072 MDL001 Medulloadrenal Hyperfunction 3
1073 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
1074 c PRT053 Portal Hypertension Due to Infrahepatic Block 3
1075 NNS030 Non-Secreting Chemodectoma 3
1076 P PNC035 Pancreatic Cancer 82
1077 PRT010 Parathyroid Carcinoma 64
1078 PNC119 Pancreatic Neuroendocrine Tumor 49
1079 P MCK013 Meckel Syndrome, Type 1 62
1080 c MCK032 Meckel Syndrome, Type 3 44
1081 c MCK012 Meckel Syndrome, Type 6 44
1082 c MCK033 Meckel Syndrome, Type 4 39
1083 c MCK031 Meckel Syndrome, Type 2 39
1084 c MCK014 Meckel Syndrome, Type 5 37
1085 c MCK030 Meckel Syndrome, Type 7 36
1086 c MCK034 Meckel Syndrome, Type 8 33
1087 c MCK028 Meckel Syndrome 13 27
1088 c MCK035 Meckel Syndrome, Type 10 26
1089 c MCK026 Meckel Syndrome 12 24
1090 c MCK036 Meckel Syndrome, Type 9 22
1091 c MCK020 Meckel Syndrome, Type 11 21
1092 ADR016 Adrenal Cortical Carcinoma 57
1093 THY028 Thyroid Cancer 72
1094 END035 Endocrine Gland Cancer 57
1095 SPT006 Septooptic Dysplasia 54
1096 P LFR001 Li-Fraumeni Syndrome 70
1097 PNC033 Pancreas Adenocarcinoma 67
1098 c LFR007 Li-Fraumeni Syndrome 2 47
1099 PNL014 Pineal Gland Cancer 44
1100 MLN047 Melanoma-Pancreatic Cancer Syndrome 30
1101 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 36
1102 FML063 Familial Glucocorticoid Deficiency 41
1103 BRT016 Bartholin's Gland Carcinoma 31
1104 PNC013 Pancreatic Ductal Carcinoma 47
1105 PRT009 Parotid Gland Cancer 35
1106 ANL012 Anal Gland Adenocarcinoma 28
1107 BRT015 Bartholin's Gland Adenocarcinoma 13
1108 c PTT056 Pituitary Adenoma 1, Multiple Types 53
1109 SMT003 Somatostatinoma 51
1110 ADR004 Adrenal Cortical Adenocarcinoma 48
1111 APC004 Apocrine Adenocarcinoma 42
1112 PNC015 Pancreatic Acinar Cell Adenocarcinoma 34
1113 c PNC103 Pancreatic Cancer 4 22
1114 ACN026 Acinar Cell Carcinoma of Pancreas 20
1115 c PNC095 Pancreatic Cancer 3 20
1116 c PNC094 Pancreatic Cancer 1 18
1117 c PNC111 Pancreatic Cancer 2 14
1118 ADN011 Adenoid Cystic Carcinoma 66
1119 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
1120 VPM001 Vipoma 51
1121 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
1122 SBC011 Sebaceous Adenocarcinoma 47
1123 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 40
1124 PNC008 Pancreatic Endocrine Carcinoma 40
1125 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 39
1126 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 37
1127 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 12
1128 PNC051 Pancreatic Cancer, Childhood 6
1129 IMM064 Immunodeficiency, Common Variable, 10 35
1130 P THY102 Thyroid Cancer, Nonmedullary, 2 63
1131 ZLL002 Zollinger-Ellison Syndrome 58
1132 c HYP731 Hyperaldosteronism, Familial, Type I 56
1133 NRN004 Neuroendocrine Tumor 56
1134 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
1135 PNC041 Pancreatic Ductal Adenocarcinoma 54
1136 LCR009 Lacrimal Gland Adenocarcinoma 21
1137 c HYP708 Hyperaldosteronism, Familial, Type Iv 19
1138 c THY101 Thyroid Cancer, Nonmedullary, 5 18
1139 c THY100 Thyroid Cancer, Nonmedullary, 4 17
1140 c THY117 Thyroid Cancer, Nonmedullary, 3 14
1141 BRT003 Bartholin's Gland Small Cell Carcinoma 7
1142 HSH003 Hashimoto Thyroiditis 67
1143 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1144 PSD014 Pseudopseudohypoparathyroidism 55
1145 ALB001 Albright's Hereditary Osteodystrophy 51
1146 PTT008 Pituitary Carcinoma 47
1147 P FML156 Familial Hyperaldosteronism 37
1148 SBC018 Sebaceous Gland Neoplasm 36
1149 GST051 Gastrointestinal Tuberculosis 35
1150 c HYP600 Hyperaldosteronism, Familial, Type Ii 35
1151 THY031 Thyroid Sarcoma 27
1152 ARM001 Aromatase Deficiency 51
1153 HDR006 Hidradenocarcinoma 48
1154 HYP249 Hyperthyroidism, Nonautoimmune 32
1155 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
1156 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
1157 FML075 Familial Isolated Hyperparathyroidism 45
1158 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 40
1159 SPT019 Septo-Optic Dysplasia Spectrum 27
1160 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 67
1161 CRN036 Craniopharyngioma 66
1162 c MLT160 Multiple Endocrine Neoplasia, Type Iia 66
1163 AND002 Androgen Insensitivity Syndrome 61
1164 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
1165 c PRM005 Primary Hyperparathyroidism 60
1166 THY121 Thyroid Gland Anaplastic Carcinoma 59
1167 DFF036 Differentiated Thyroid Carcinoma 55
1168 P BRT004 Bartter Disease 53
1169 CYS014 Cystadenocarcinoma 53
1170 TST015 Testicular Disease 52
1171 P FML012 Familial Partial Lipodystrophy 52
1172 P 46X052 46,xx Sex Reversal 1 51
1173 MCP006 Mucoepidermoid Carcinoma 51
1174 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
1175 NLS001 Nelson Syndrome 48
1176 c BRT042 Bartter Syndrome, Type 3 44
1177 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
1178 ADR038 Adermatoglyphia 42
1179 ANL011 Anal Canal Carcinoma 41
1180 c PSD117 Pseudohypoparathyroidism, Type Ic 40
1181 P HYP599 Hypoparathyroidism, Familial Isolated 40
1182 MXD023 Mixed Cell Type Cancer 38
1183 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 36
1184 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1185 WTK002 Witkop Syndrome 35
1186 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
1187 APC005 Apocrine Sweat Gland Neoplasm 30
1188 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 28
1189 ECC008 Eccrine Sweat Gland Neoplasm 28
1190 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
1191 ACN007 Acinar Cell Cystadenocarcinoma 27
1192 c LPD044 Lipodystrophy, Familial Partial, Type 7 26
1193 ECC007 Eccrine Sweat Gland Cancer 25
1194 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1195 ECC001 Eccrine Papillary Adenocarcinoma 25
1196 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 22
1197 STR088 Stratton-Parker Syndrome 22
1198 c BRT024 Bartter Syndrome Type 4 21
1199 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1200 MCP007 Mucoepidermoid Thyroid Carcinoma 17
1201 MLT005 Multicentric Papillary Thyroid Carcinoma 15
1202 TLL001 Tall Cell Variant Papillary Carcinoma 14
1203 CLM001 Columnar Cell Variant Papillary Carcinoma 9
1204 PST034 Posterior Pituitary Gland Neoplasm 9
1205 P OVR042 Ovarian Cancer 83
1206 P LVR013 Liver Disease 76
1207 SCK003 Sickle Cell Anemia 74
1208 P HPT021 Hepatitis 73
1209 P BDY004 Body Mass Index Quantitative Trait Locus 11 72
1210 c MYT021 Myotonic Dystrophy 1 71
1211 LPT014 Leptin Deficiency or Dysfunction 70
1212 P ADN016 Adenocarcinoma 70
1213 P DBT009 Diabetes Mellitus 67
1214 PRT036 Peritonitis 66
1215 GLC006 Galactosemia 65
1216 P HLP001 Holoprosencephaly 65
1217 HYP056 Hypoglycemia 64
1218 OVR029 Ovarian Hyperstimulation Syndrome 64
1219 P HYP724 Hyperlipoproteinemia, Type Iii 63
1220 P SHW006 Shwachman-Diamond Syndrome 1 63
1221 P BRD002 Bardet-Biedl Syndrome 63
1222 P THY023 Thymoma 63
1223 P NPH012 Nephrotic Syndrome 63
1224 ALC006 Alcoholic Hepatitis 62
1225 P PRD006 Prader-Willi Syndrome 61
1226 PLL001 Pallister-Hall Syndrome 61
1227 DGR001 Digeorge Syndrome 61
1228 DBT084 Diabetes Mellitus, Ketosis-Prone 60
1229 c ALP101 Alpha-Thalassemia 60
1230 DBT083 Diabetes Mellitus, Permanent Neonatal 60
1231 c VRL010 Viral Hepatitis 60
1232 c BRD014 Bardet-Biedl Syndrome 2 60
1233 c BRD010 Bardet-Biedl Syndrome 1 59
1234 P SHR029 Short Syndrome 57
1235 c GLY005 Glycogen Storage Disease Vi 57
1236 c GLY004 Glycogen Storage Disease V 56
1237 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1238 CLS005 Clouston Syndrome 56
1239 HPT022 Hepatoblastoma 56
1240 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 55
1241 APP015 Apparent Mineralocorticoid Excess 55
1242 OVR059 Ovary Adenocarcinoma 55
1243 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
1244 P PRM006 Primary Biliary Cirrhosis 54
1245 DNY001 Denys-Drash Syndrome 54
1246 HYP732 Hyperalphalipoproteinemia 1 53
1247 ADN009 Adenosquamous Carcinoma 53
1248 PRS129 Prostatic Hyperplasia, Benign 53
1249 OVR012 Ovarian Serous Cystadenocarcinoma 53
1250 c ACT134 Acute Liver Failure 53
1251 P HMG032 Hemoglobin H Disease 53
1252 ALC009 Alcoholic Liver Cirrhosis 52
1253 c HYP740 Hyperlipoproteinemia, Type V 52
1254 c GLY011 Glycogen Storage Disease Vii 52
1255 P PRC019 Precocious Puberty 52
1256 END031 Endometrial Stromal Sarcoma 52
1257 c OVR114 Ovarian Cancer 1 51
1258 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
1259 RPP001 Rapp-Hodgkin Syndrome 51
1260 P ACQ022 Acquired Generalized Lipodystrophy 51
1261 TST044 Testicular Torsion 50
1262 c GLY060 Glycogen Storage Disease Ia 50
1263 THY022 Thymic Carcinoma 50
1264 c NPH055 Nephrotic Syndrome, Type 1 50
1265 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
1266 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 49
1267 P CLS054 Classic Ehlers-Danlos Syndrome 49
1268 c HLP023 Holoprosencephaly 1 49
1269 PTT041 Pituitary Stalk Interruption Syndrome 49
1270 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1271 P PRS049 Persistent Mullerian Duct Syndrome 49
1272 c HYP739 Hyperlipoproteinemia, Type Iv 49
1273 ONC007 Oncocytoma 49
1274 LVR002 Liver Angiosarcoma 49
1275 HMZ003 Homozygous Familial Hypercholesterolemia 48
1276 CMP034 Complete Androgen Insensitivity Syndrome 47
1277 c 46X001 46 Xy Gonadal Dysgenesis 47
1278 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 47
1279 c INF145 Infantile Liver Failure Syndrome 1 47
1280 c BRD016 Bardet-Biedl Syndrome 4 47
1281 P MTH008 Methylmalonic Acidemia 47
1282 PGT003 Paget Disease, Extramammary 47
1283 P LYD001 Leydig Cell Tumor 47
1284 c HYP768 Hyperlipoproteinemia, Type I 47
1285 P PRC038 Precocious Puberty, Male-Limited 47
1286 HPT025 Hepatic Lipase Deficiency 46
1287 OVR060 Ovary Epithelial Cancer 46
1288 LRN001 Laurence-Moon Syndrome 46
1289 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 45
1290 CHN054 Chondrodysplasia, Blomstrand Type 45
1291 ONC003 Oncogenic Osteomalacia 45
1292 OST004 Osteitis Fibrosa 45
1293 HPT067 Hepatocellular Adenoma 44
1294 c BDY020 Body Mass Index Quantitative Trait Locus 19 44
1295 WDM005 Wiedemann-Rautenstrauch Syndrome 44
1296 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 44
1297 CRN055 Carney Triad 44
1298 P LSS036 Lissencephaly, X-Linked, 1 44
1299 P OVR106 Ovarian Clear Cell Carcinoma 44
1300 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
1301 THY009 Thyroid Lymphoma 43
1302 c HMG003 Hemoglobin E Disease 43
1303 c HMG001 Hemoglobin C Disease 43
1304 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 43
1305 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 43
1306 HYP835 Hypothalamic Obesity 43
1307 PRG008 Paragonimiasis 43
1308 c SRC023 Sarcoidosis 2 43
1309 GST030 Gastrinoma 43
1310 c BDY019 Body Mass Index Quantitative Trait Locus 18 43
1311 c ADN012 Adenocarcinoma in Situ 42
1312 OVR112 Ovarian Germ Cell Cancer 42
1313 P HYP776 Hyperparathyroidism, Neonatal Severe 42
1314 END002 Endometrioid Ovary Carcinoma 42
1315 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 42
1316 OVR034 Ovarian Clear Cell Adenocarcinoma 42
1317 c NPH049 Nephrotic Syndrome, Type 2 42
1318 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
1319 DRG002 Drug-Induced Hepatitis 41
1320 c BDY006 Body Mass Index Quantitative Trait Locus 8 41
1321 c BDY012 Body Mass Index Quantitative Trait Locus 7 41
1322 c BDY011 Body Mass Index Quantitative Trait Locus 10 41
1323 OVR105 Ovarian Serous Carcinoma 41
1324 LPT006 Leptin Receptor Deficiency 41
1325 46X012 46,xy Partial Gonadal Dysgenesis 41
1326 c GLY044 Glycogen Storage Disease Ixc 40
1327 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
1328 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 40
1329 ARC007 Arachnoid Cysts 39
1330 OVR123 Ovarian Seromucinous Carcinoma 39
1331 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 39
1332 ANR018 Anorchia 39
1333 LYM043 Lymphocytic Hypophysitis 39
1334 HPT008 Hepatic Tuberculosis 39
1335 c OVR058 Ovarian Small Cell Carcinoma 39
1336 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 38
1337 c HYP243 Hyperparathyroidism 1 38
1338 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 38
1339 ECC003 Eccrine Papillary Adenoma 38
1340 HMN004 Hemangioma of Liver 38
1341 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 38
1342 CHR075 Choriocarcinoma of Ovary 38
1343 GBL002 Goblet Cell Carcinoid 38
1344 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 37
1345 APL017 Apolipoprotein C-Ii Deficiency 36
1346 c NPH054 Nephrotic Syndrome, Type 3 36
1347 DNC004 Diencephalic Syndrome 36
1348 EST007 Estrogen Resistance 36
1349 BSM002 Bosma Arhinia Microphthalmia Syndrome 36
1350 OVR054 Ovarian Mucinous Neoplasm 36
1351 HYP610 Hypothyroidism, Central, and Testicular Enlargement 36
1352 P CNT037 Central Nervous System Germinoma 36
1353 OVR047 Ovarian Cystadenocarcinoma 35
1354 OVR044 Ovarian Carcinosarcoma 35
1355 P HRD022 Hordeolum 35
1356 c BDY005 Body Mass Index Quantitative Trait Locus 9 35
1357 TST020 Testis Seminoma 34
1358 P PRR025 Perrault Syndrome 34
1359 c FML294 Familial Short Qt Syndrome 34
1360 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 34
1361 KRK001 Krukenberg Carcinoma 34
1362 c PSD104 Pseudohypoparathyroidism, Type Ii 34
1363 OVR104 Ovarian Melanoma 34
1364 LPS020 Lipase Deficiency, Combined 33
1365 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 33
1366 FML091 Familial Tumoral Calcinosis 33
1367 c MLG072 Malignant Leydig Cell Tumor 33
1368 c INV003 Invasive Malignant Thymoma 33
1369 c KNN009 Kenny-Caffey Syndrome, Type 1 33
1370 THY108 Thymic Neuroendocrine Tumor 33
1371 HPT081 Hepatic Infarction 33
1372 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 33
1373 OVR013 Ovarian Mucinous Cystadenocarcinoma 32
1374 c BDY010 Body Mass Index Quantitative Trait Locus 4 32
1375 c BDY015 Body Mass Index Quantitative Trait Locus 12 32
1376 PRP098 Proprotein Convertase 1/3 Deficiency 32
1377 OVR061 Ovary Sarcoma 32
1378 CHR525 Chromosome Xq26.3 Duplication Syndrome 32
1379 BCH003 Boucher-Neuhauser Syndrome 31
1380 c LSS037 Lissencephaly, X-Linked, 2 31
1381 FTL005 Fetal Adenoma 31
1382 END036 Endocrine Organ Benign Neoplasm 31
1383 OVR011 Ovarian Mucinous Adenocarcinoma 31
1384 THY024 Thymus Adenocarcinoma 31
1385 c ALG016 Alagille Syndrome 2 30
1386 c BDY021 Body Mass Index Quantitative Trait Locus 20 30
1387 MCH011 Meacham Syndrome 30
1388 c FML157 Familial Male-Limited Precocious Puberty 30
1389 c GLY009 Glycogen Storage Disease Xv 30
1390 5LP001 5-Alpha Reductase Deficiency 30
1391 OVR021 Ovarian Lymphoma 30
1392 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 30
1393 MXD014 Mixed Ductal-Endocrine Carcinoma 30
1394 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
1395 c KNN007 Kenny-Caffey Syndrome, Type 2 29
1396 P TST016 Testicular Granulosa Cell Tumor 29
1397 CRT039 Corticosterone Methyloxidase Type I Deficiency 29
1398 PRD001 Predominantly Cortical Thymoma 29
1399 TST007 Testicular Infarct 29
1400 OPT032 Optic Pathway Glioma 29
1401 MLG078 Malignant Pineal Area Germ Cell Neoplasm 29
1402 OVR041 Ovarian Benign Neoplasm 29
1403 LVR004 Liver Inflammatory Pseudotumor 29
1404 c GLY097 Glycogen Storage Disease Ixb 29
1405 NST002 Nestor-Guillermo Progeria Syndrome 29
1406 OVR062 Ovary Serous Adenocarcinoma 29
1407 MLL011 Mullerian Aplasia and Hyperandrogenism 29
1408 EPT007 Epithelial Malignant Thymoma 28
1409 KPP002 Keppen-Lubinsky Syndrome 28
1410 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 28
1411 URC004 Urachal Cancer 28
1412 c HMG029 Hemoglobin Se Disease 28
1413 FTL062 Fetal Iodine Deficiency Disorder 28
1414 c LVR030 Liver Failure, Infantile, Transient 27
1415 THY096 Thyroid Carcinoma, Hurthle Cell 27
1416 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 27
1417 c HMG004 Hemoglobin D Disease 27
1418 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
1419 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 27
1420 BRN137 Bronchial Neuroendocrine Tumor 27
1421 LVR005 Liver Leiomyoma 27
1422 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
1423 TST010 Testicular Spermatocytic Seminoma 27
1424 c GLY006 Glycogen Storage Disease Viii 27
1425 SPR018 Spermatocytoma 27
1426 OVR015 Ovarian Mixed Germ Cell Neoplasm 26
1427 NNG002 Non-Gestational Ovarian Choriocarcinoma 26
1428 c THY018 Thymus Clear Cell Carcinoma 25
1429 ANS010 Anus Adenocarcinoma 25
1430 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
1431 c NPH047 Nephrotic Syndrome, Type 4 25
1432 PDT022 Pediatric Ovarian Germ Cell Tumor 24
1433 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 24
1434 c PRR024 Perrault Syndrome 3 24
1435 ARD001 Aredyld 24
1436 DFN313 Deafness-Hypogonadism Syndrome 24
1437 c NPH073 Nephrotic Syndrome, Type 8 24
1438 c GLY059 Glycogen Storage Disease Xiii 24
1439 NTM001 Nutmeg Liver 23
1440 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23
1441 c SHW007 Shwachman-Diamond Syndrome 2 23
1442 HYP344 Hyperthyroidism, Familial Gestational 23
1443 c NPH095 Nephrotic Syndrome, Type 11 23
1444 c HYP819 Hyperlipoproteinemia, Type Id 23
1445 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 23
1446 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 23
1447 c NPH074 Nephrotic Syndrome, Type 9 22
1448 c NPH103 Nephrotic Syndrome, Type 15 22
1449 GLC043 Glucocorticoid Deficiency 2 22
1450 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1451 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 22
1452 ADL056 Adult Pineal Parenchymal Tumor 22
1453 GRW032 Growth Factors, Combined Defect of 22
1454 c INF138 Infantile Liver Failure Syndrome 2 22
1455 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 22
1456 OVR027 Ovarian Squamous Cell Carcinoma 22
1457 c NPH096 Nephrotic Syndrome, Type 12 21
1458 THY106 Thyroglossal Duct Cyst, Familial 20
1459 LYM123 Lymphedema-Hypoparathyroidism Syndrome 20
1460 TST005 Testicular Gonadoblastoma 20
1461 c HYP831 Hyperparathyroidism, Transient Neonatal 20
1462 MXD007 Mixed Hepatoblastoma 19
1463 c NPH076 Nephrotic Syndrome, Type 10 19
1464 c NPH105 Nephrotic Syndrome, Type 17 19
1465 c NPH107 Nephrotic Syndrome, Type 19 19
1466 SBC005 Subacute Lymphocytic Thyroiditis 19
1467 c NPH104 Nephrotic Syndrome, Type 16 19
1468 TST035 Testicular Anomalies with or Without Congenital Heart Disease 19
1469 PNL009 Pineal Region Choriocarcinoma 18
1470 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 18
1471 TST040 Testicular Trophoblastic Tumor 18
1472 c NPH106 Nephrotic Syndrome, Type 18 18
1473 OVR033 Ovary Papillary Carcinoma 18
1474 THY006 Thymus Lymphoma 17
1475 PPL015 Papillary Thymic Adenocarcinoma 17
1476 c NPH093 Nephrotic Syndrome, Type 13 17
1477 OVR103 Ovarian Endometrial Cancer 17
1478 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 17
1479 OVR026 Ovary Transitional Cell Carcinoma 17
1480 c HRD156 Hereditary Central Diabetes Insipidus 16
1481 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 16
1482 HYD021 Hydrocephalus Obesity Hypogonadism 16
1483 LVR010 Liver Leiomyosarcoma 16
1484 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 16
1485 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 15
1486 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
1487 OVR040 Ovarian Clear Cell Cystadenocarcinoma 15
1488 THY017 Thymus Sarcomatoid Carcinoma 15
1489 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1490 c ACQ034 Acquired Central Diabetes Insipidus 15
1491 LVR001 Liver Lipoma 14
1492 LVR009 Liver Rhabdomyosarcoma 14
1493 TST012 Testicular Fibroma 14
1494 TST019 Testis Sarcoma 14
1495 NRC007 Neuroectodermal Endocrine Syndrome 14
1496 THY010 Thymus Mucoepidermoid Carcinoma 14
1497 XLN112 X-Linked Intellectual Disability, Cilliers Type 14
1498 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
1499 c INT047 Internal Hordeolum 14
1500 GST035 Gestational Ovarian Choriocarcinoma 13
1501 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
1502 NRN032 Neuroendocrine Tumor of Anal Canal 13
1503 INF124 Infundibulo-Neurohypophysitis 13
1504 GLL034 Gallbladder Neuroendocrine Tumor 13
1505 HYP053 Hypercalcemic Type Ovarian Small Cell Carcinoma 13
1506 THY011 Thymus Basaloid Carcinoma 12
1507 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 12
1508 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
1509 NNN002 Noninvasive Malignant Thymoma 12
1510 NRH002 Neurohypophysis Granular Cell Tumor 12
1511 OVR020 Ovarian Wilms' Cancer 11
1512 OBS060 Obesity Due to Sim1 Deficiency 11
1513 SCN001 Secondary Hyperparathyroidism of Renal Origin 11
1514 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 11
1515 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 11
1516 OVR016 Ovarian Endometrioid Stromal Sarcoma 11
1517 c THY008 Thymus Small Cell Carcinoma 10
1518 MYT025 Myotubular Myopathy with Abnormal Genital Development 10
1519 OVR055 Ovarian Papillary Neoplasm 9
1520 TST041 Testicular Germ Cell Tumor Non-Seminomatous 9
1521 BSP005 Basophilic Adenocarcinoma 9
1522 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 9
1523 CHL008 Childhood Ovarian Endodermal Sinus Tumor 9
1524 THY012 Thymus Adenosquamous Carcinoma 9
1525 PNL010 Pineal Region Yolk Sac Tumor 9
1526 MLG017 Malignant Tumor of Undescended Testis 9
1527 PPL010 Papillary Follicular Thyroid Adenocarcinoma 9
1528 TST013 Testicular Thecoma 9
1529 CHL038 Childhood Choriocarcinoma of the Ovary 8
1530 LVR008 Liver Fibrosarcoma 8
1531 PRP104 Prepubertal Anorexia Nervosa 8
1532 c ADL043 Adult Type Testicular Granulosa Cell Tumor 7
1533 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 7
1534 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 7
1535 NNN001 Nonencapsulated Sclerosing Carcinoma 7
1536 RTV002 Rete Ovarii Adenocarcinoma 7
1537 LVR007 Liver Fibroma 7
1538 c ADL036 Adult Central Nervous System Germinoma 7
1539 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1540 MCR005 Macrotrabecular Hepatoblastoma 6
1541 OVR028 Ovarian Squamous Cell Neoplasm 6
1542 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 6
1543 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1544 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1545 TST002 Testicular Brenner Tumor 6
1546 EPD012 Epididymal Neoplasm 6
1547 TRB001 Trabecular Follicular Adenocarcinoma 6
1548 GST003 Gastrin Secretion Abnormality 6
1549 TBL005 Tubular Variant Testicular Seminoma 6
1550 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 6
1551 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 6
1552 PSD013 Pseudoglandular Variant Testicular Seminoma 6
1553 SLD001 Solid Pattern Testicular Yolk Sac Tumor 6
1554 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 6
1555 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 6
1556 CRB003 Cribriform Variant Testicular Seminoma 6
1557 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 6
1558 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 6
1559 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1560 FML019 Familiar Ovarian Carcinoma 5
1561 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 5
1562 NNR001 Non-Renal Secondary Hyperparathyroidism 5
1563 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 5
1564 TST042 Testicular Pure Germ Cell Tumor 5
1565 OBS083 Obesity Due to Congenital Leptin Resistance 4
1566 GNT051 Genetic Non-Syndromic Obesity 4
1567 c OVR071 Ovarian Insufficiency, Familial 4
1568 DYS002 Dysplastic Nevus Syndrome 38
1569 c THY109 Thyroid Cancer, Nonmedullary, 1 59
1570 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 18
1571 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
1572 MCC012 Mccune-Albright Syndrome 65
1573 IMM177 Immunodeficiency 54 24
1574 THY111 Thyroid Carcinoma, Familial Medullary 70
1575 c PRG018 Paragangliomas 1 59
1576 P BRS047 Breast Cancer 100
1577 c INF023 Inflammatory Breast Carcinoma 57
1578 c BRS049 Breast Carcinoma in Situ 56
1579 P MLT074 Multiple Endocrine Neoplasia 56
1580 c SPR009 Sporadic Breast Cancer 49
1581 IGG007 Igg4-Related Disease 47
1582 CYL004 Cylindromatosis, Familial 37
1583 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
1584 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 15
1585 c BTT014 Beta-Thalassemia 72
1586 P MYC084 Mycobacterium Tuberculosis 1 67
1587 ABT001 Abetalipoproteinemia 67
1588 CLR108 Colorectal Adenoma 64
1589 HYP020 Hyperprolactinemia 63
1590 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 63
1591 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 62
1592 c GLY003 Glycogen Storage Disease Iii 61
1593 DBT087 Diabetes Insipidus, Neurohypophyseal 61
1594 HYP190 Hypoalphalipoproteinemia, Primary 60
1595 MRK001 Merkel Cell Carcinoma 59
1596 HDR002 Hidradenitis Suppurativa 57
1597 CRC006 Carcinoid Syndrome 56
1598 FBR086 Fibrolamellar Carcinoma 55
1599 FRS002 Frasier Syndrome 55
1600 c GST103 Gastric Cancer, Hereditary Diffuse 55
1601 TST014 Testicular Cancer 54
1602 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1603 CHY002 Chylomicron Retention Disease 54
1604 RNL051 Renal Cysts and Diabetes Syndrome 53
1605 NRN001 Neuroendocrine Carcinoma 53
1606 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
1607 OPS006 Opsoclonus-Myoclonus Syndrome 52
1608 CRC014 Carcinoid Tumors, Intestinal 51
1609 PRT018 Portal Vein Thrombosis 50
1610 c ADL096 Adult Hepatocellular Carcinoma 50
1611 P FML068 Familial Hypocalciuric Hypercalcemia 50
1612 c RBN021 Rubinstein-Taybi Syndrome 1 50
1613 CYS008 Cystic Echinococcosis 49
1614 PDT042 Pediatric Hepatocellular Carcinoma 48
1615 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 48
1616 PSD021 Pseudovaginal Perineoscrotal Hypospadias 48
1617 c BRD013 Bardet-Biedl Syndrome 12 48
1618 CLN003 Clonorchiasis 48
1619 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
1620 BRK001 Brooke-Spiegler Syndrome 47
1621 GLY014 Glycerol Kinase Deficiency 47
1622 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 46
1623 c TYR013 Tyrosinemia, Type Ii 46
1624 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
1625 P DFF019 Diffuse Gastric Cancer 45
1626 P HRD086 Hereditary Hypophosphatemic Rickets 45
1627 P TST026 Testicular Germ Cell Cancer 44
1628 TST018 Testicular Yolk Sac Tumor 44
1629 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 44
1630 APP009 Appendix Adenocarcinoma 43
1631 c SML009 Small Intestine Adenocarcinoma 43
1632 c FML015 Familial Nephrotic Syndrome 43
1633 OPS001 Opisthorchiasis 43
1634 PRG017 Paraganglioma and Gastric Stromal Sarcoma 42
1635 TST004 Testicular Lymphoma 42
1636 P LRG016 Large Intestine Adenocarcinoma 42
1637 TXC011 Toxocariasis 42
1638 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
1639 OVR050 Ovarian Embryonal Carcinoma 41
1640 MRT007 Martsolf Syndrome 41
1641 ARM004 Aromatase Excess Syndrome 39
1642 HPT020 Hepatic Vascular Disease 38
1643 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1644 c TST017 Testicular Malignant Germ Cell Cancer 38
1645 PLS002 Peliosis Hepatis 38
1646 CHP002 Chops Syndrome 38
1647 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 37
1648 P PHS005 Peho Syndrome 37
1649 c NPH070 Nephrotic Syndrome, Type 6 37
1650 ECC004 Eccrine Porocarcinoma 37
1651 HYP737 Hyperhidrosis, Gustatory 36
1652 c WLF009 Wolfram Syndrome 2 35
1653 P TST048 Testicular Sex Cord-Stromal Neoplasm 35
1654 P TST001 Testicular Leydig Cell Tumor 35
1655 TST003 Testicular Leukemia 35
1656 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 35
1657 DDN002 Duodenal Gastrinoma 34
1658 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
1659 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1660 LVR014 Liver Sarcoma 32
1661 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
1662 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 31
1663 STY001 Satoyoshi Syndrome 31
1664 c NPH072 Nephrotic Syndrome, Type 7 30
1665 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
1666 LVR031 Liver Benign Neoplasm 29
1667 P FML168 Familial Isolated Pituitary Adenoma 28
1668 c PRR020 Perrault Syndrome 1 27
1669 SCL007 Sclerosing Hepatic Carcinoma 27
1670 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
1671 c PHL010 Peho-Like Syndrome 26
1672 HMT001 Hematocele of Tunica Vaginalis Testis 25
1673 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1674 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 24
1675 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 23
1676 RCT005 Rectum Neuroendocrine Neoplasm 23
1677 HYP683 Hypogonadism-Cataract Syndrome 22
1678 ILL008 Ileal Neuroendocrine Tumor 22
1679 WBB001 Webb-Dattani Syndrome 22
1680 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1681 LVR006 Liver Lymphoma 21
1682 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 21
1683 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 20
1684 MRB006 Morbid Obesity and Spermatogenic Failure 19
1685 OVR004 Ovary Neuroendocrine Neoplasm 19
1686 THY027 Thymus Squamous Cell Carcinoma 17
1687 MNT030 Mental Retardation Syndrome, Belgian Type 17
1688 NRN045 Neuroendocrine Neoplasm of Appendix 16
1689 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1690 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16
1691 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15
1692 THY092 Thymic Neuroendocrine Carcinoma 14
1693 HPT011 Hepatocellular Clear Cell Carcinoma 13
1694 DGS008 Digestive System Melanoma 13
1695 P THY005 Thymus Large Cell Carcinoma 13
1696 PRS017 Prostate Neuroendocrine Neoplasm 12
1697 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 12
1698 MDD017 Middle Ear Neuroendocrine Tumor 10
1699 PDT023 Pediatric Testicular Germ Cell Tumor 10
1700 LVR003 Liver Carcinoma in Situ 10
1701 CHL026 Childhood Ovarian Embryonal Carcinoma 9
1702 P RBN007 Rubinstein Taybi Like Syndrome 9
1703 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
1704 TST009 Testis Refractory Cancer 7
1705 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1706 CHL064 Childhood Testicular Mixed Germ Cell Tumor 7
1707 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 6
1708 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 6
1709 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1710 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1711 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1712 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 4
1713 P HPT023 Hepatocellular Carcinoma 96
1714 INS024 Insulin-Like Growth Factor I 82
1715 WLS001 Wilson Disease 70
1716 CHR072 Chordoma 64
1717 STF001 Stiff-Person Syndrome 64
1718 P KLL001 Kallmann Syndrome 63
1719 KRN002 Kearns-Sayre Syndrome 63
1720 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 61
1721 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 61
1722 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 60
1723 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
1724 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 59
1725 CMP005 Campomelic Dysplasia 58
1726 ALS001 Alstrom Syndrome 57
1727 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
1728 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1729 c GLY007 Glycogen Storage Disease Iv 54
1730 AND020 Androgen Insensitivity, Partial 51
1731 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50
1732 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 50
1733 GST004 Gastric Neuroendocrine Neoplasm 49
1734 THY025 Thymus Cancer 47
1735 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1736 c BRD015 Bardet-Biedl Syndrome 3 43
1737 EMB006 Embryonal Testis Carcinoma 36
1738 SML031 Small Cell Carcinoma of the Bladder 36
1739 MHM001 Mehmo Syndrome 35
1740 TST033 Testicular Regression Syndrome 35
1741 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
1742 IMM179 Immunodeficiency 31c 32
1743 DTH005 Diethylstilbestrol Syndrome 31
1744 MMS001 Momo Syndrome 29
1745 INT041 Intratubular Embryonal Carcinoma 28
1746 CHR506 Choroideremia, Deafness, and Mental Retardation 26
1747 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 26
1748 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 22
1749 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1750 NRN033 Neuroendocrine Tumor of the Colon 18
1751 LRY013 Laryngeal Neuroendocrine Tumor 16
1752 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
1753 HPT017 Hepatic Osteogenic Sarcoma 9
1754 CHL043 Childhood Embryonal Testis Carcinoma 9
1755 CHL048 Childhood Teratocarcinoma of the Testis 8
1756 c ATM011 Autoimmune Hepatitis 67
1757 c HPT003 Hepatitis a 66
1758 BDD001 Budd-Chiari Syndrome 59
1759 c TYR012 Tyrosinemia, Type I 55
1760 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
1761 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
1762 c THY086 Thymoma Type B 16
1763 c THY087 Thymoma Type Ab 13
1764 c THY085 Thymoma Type a 12
1765 c THY107 Thymoma, Familial 50



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