Endocrine Diseases Category (1548 diseases)


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

# Family MCID Name MIFTS
1 ISL014 Isolated Growth Hormone Deficiency, Type Ia 57
2 LPD012 Lipoid Congenital Adrenal Hyperplasia 69
3 ADR049 Adrenal Hypoplasia, Congenital 47
4 ADR007 Adrenoleukodystrophy 71
5 ADR005 Adrenal Carcinoma 59
6 ISL115 Isolated Growth Hormone Deficiency, Type Iii 41
7 ISL003 Isolated Growth Hormone Deficiency 55
8 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 53
9 c PNC108 Pancreatitis, Hereditary 59
10 ADR008 Adrenal Adenoma 51
11 ISL114 Isolated Growth Hormone Deficiency, Type Ii 45
12 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 28
13 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 35
14 c LYD012 Leydig Cell Hypoplasia, Type I 31
15 PNC120 Pancreas, Dorsal, Agenesis of 23
16 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 53
17 CNN003 Conn's Syndrome 71
18 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
19 HYP780 Hypoadrenocorticism, Familial 61
20 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 31
21 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 39
22 PTT044 Pituitary Hormone Deficiency, Combined, 4 28
23 ADR012 Adrenal Gland Disease 51
24 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 50
25 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 54
26 ISL015 Isolated Growth Hormone Deficiency, Type Ib 42
27 PNC048 Pancreatic Lipase Deficiency 26
28 P GNR008 Generalized Resistance to Thyroid Hormone 36
29 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 26
30 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 14
31 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 49
32 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 15
33 LRN002 Laron Syndrome 62
34 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
35 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 45
36 SWT002 Sweat Gland Cancer 41
37 PRR005 Paraurethral Gland Cancer 10
38 P SLV002 Salivary Gland Cancer 61
39 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 25
40 ACT238 Acth Deficiency, Isolated 48
41 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 56
42 LCR011 Lacrimal Gland Carcinoma 26
43 NRN044 Neuroendocrine Carcinoma of Pancreas 17
44 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 14
45 NNT017 Neonatal Adrenoleukodystrophy 52
46 SLV003 Salivary Gland Disease 45
47 ADR014 Adrenal Medulla Cancer 30
48 ISL001 Islet Cell Tumor 53
49 PRS127 Pearson Marrow-Pancreas Syndrome 44
50 BRT045 Bartholin's Gland Benign Neoplasm 38
51 PTT045 Pituitary Hormone Deficiency, Combined, 1 33
52 HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 29
53 SLV025 Salivary Gland Adenoma, Pleomorphic 28
54 c ACT027 Acute Pancreatitis 60
55 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 28
56 ADR013 Adrenal Gland Hyperfunction 54
57 P PNC045 Pancreatic Agenesis 40
58 CMB021 Combined Pituitary Hormone Deficiency 37
59 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 29
60 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 28
61 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
62 INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 13
63 P ACT150 Acute Adrenal Insufficiency 51
64 PNC118 Pancreas, Annular 38
65 NNF001 Non-Functioning Pancreatic Endocrine Tumor 35
66 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
67 PNC029 Pancreatic Acth Hormone Producing Tumor 6
68 GRW003 Growth Hormone Insensitivity with Immunodeficiency 20
69 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
70 CYS001 Cystic Fibrosis 84
71 PTT046 Pituitary Hormone Deficiency, Combined, 2 56
72 TRP008 Tropical Calcific Pancreatitis 44
73 c PNC106 Pancreatic Agenesis 1 37
74 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 35
75 GRW026 Growth Hormone Insensitivity, Partial 26
76 c ATM024 Autoimmune Pancreatitis 50
77 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 38
78 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 35
79 HRM003 Hormone Producing Pituitary Cancer 32
80 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31
81 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 20
82 OST141 Osteoclastic Giant Cell Tumor of Pancreas 13
83 THY053 Thyroid Hormone Plasma Membrane Transport Defect 12
84 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 9
85 GLC042 Glucocorticoid Deficiency 1 39
86 ACC005 Accessory Pancreas 15
87 P GRW001 Growth Hormone Secreting Pituitary Adenoma 47
88 HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40
89 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23
90 THY069 Thyroid Hormone Resistance, Selective Pituitary 22
91 KWR001 Kowarski Syndrome 20
92 c PNC105 Pancreatic Agenesis 2 18
93 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
94 46X055 46,xy Sex Reversal 3 31
95 MXD003 Mixed Lacrimal Gland Cancer 31
96 THY039 Thyrotropin-Releasing Hormone Deficiency 25
97 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 24
98 TMR001 Tumor of Exocrine Pancreas 24
99 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 23
100 SBM004 Submandibular Gland Cancer 22
101 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 18
102 HYP746 Hypersecretion of Adrenal Androgens, Familial 11
103 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 8
104 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
105 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 3
106 P PNC044 Pancreatitis 64
107 PRT030 Parathyroid Gland Disease 49
108 JHN001 Johanson-Blizzard Syndrome 47
109 APL002 Aplasia of Lacrimal and Salivary Glands 40
110 ADN008 Adenosquamous Pancreas Carcinoma 38
111 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 37
112 ADR003 Adrenal Neuroblastoma 25
113 ACR119 Acrodysostosis 2 with or Without Hormone Resistance 23
114 PTT043 Pituitary Hormone Deficiency, Combined, 6 16
115 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 15
116 c PRM196 Premature Ovarian Failure 1 71
117 P HYP083 Hypopituitarism 58
118 PNC034 Pancreas Disease 57
119 ADR041 Adrenal Cortical Adenoma 42
120 HDR004 Hidradenoma 42
121 SLL001 Sialolithiasis 40
122 c FML297 Familial Thyroid Dyshormonogenesis 37
123 c PRM093 Premature Ovarian Failure 7 31
124 PNC104 Pancreatic and Cerebellar Agenesis 26
125 P THY061 Thyroid Dyshormonogenesis 2a 24
126 CHL075 Cheilitis Glandularis 24
127 c PRM089 Premature Ovarian Failure 3 22
128 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
129 c PRM254 Premature Ovarian Failure 11 22
130 THY064 Thyroid Hormone Metabolism, Abnormal 19
131 c PRM192 Premature Ovarian Failure 8 19
132 c PRM207 Premature Ovarian Failure 10 19
133 c PRM090 Premature Ovarian Failure 6 18
134 FBR065 Fibrocalculous Pancreatopathy 18
135 c PRM253 Premature Ovarian Failure 13 18
136 c PRM094 Premature Ovarian Failure 5 18
137 c PRM091 Premature Ovarian Failure 2b 18
138 c PRM191 Premature Ovarian Failure 9 17
139 c PRM255 Premature Ovarian Failure 12 16
140 P PRM176 Premature Ovarian Failure 2a 16
141 SBL001 Sublingual Gland Cancer 11
142 c PRM292 Premature Ovarian Failure 14 10
143 c FML072 Familial Hypopituitarism 8
144 c PRX045 Peroxisome Biogenesis Disorder 1b 56
145 ECT093 Ectopic Cushing Syndrome 50
146 HYP189 Hypoadrenalism 43
147 c SCN052 Secondary Adrenal Insufficiency 42
148 c PRX059 Peroxisome Biogenesis Disorder 1a 40
149 ALC005 Alcoholic Pancreatitis 38
150 PNC006 Pancreatic Somatostatinoma 38
151 PNC002 Pancreatic Mucinous Cystadenoma 36
152 c PRX055 Peroxisome Biogenesis Disorder 11a 32
153 ATM078 Autoimmune Addison Disease 31
154 WTR001 Waterhouse-Friderichsen Syndrome 30
155 c PRX063 Peroxisome Biogenesis Disorder 2a 29
156 c PRX060 Peroxisome Biogenesis Disorder 5a 28
157 c PRX053 Peroxisome Biogenesis Disorder 14b 27
158 c PRX056 Peroxisome Biogenesis Disorder 11b 27
159 c PRX054 Peroxisome Biogenesis Disorder 12a 26
160 c PRX065 Peroxisome Biogenesis Disorder 3a 24
161 c PRX091 Peroxisome Biogenesis Disorder 8a 24
162 c PRX057 Peroxisome Biogenesis Disorder 4a 24
163 c PRX048 Peroxisome Biogenesis Disorder 10a 24
164 c PRX046 Peroxisome Biogenesis Disorder 7a 24
165 c PRX052 Peroxisome Biogenesis Disorder 13a 23
166 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 23
167 c PRX043 Peroxisome Biogenesis Disorder 6b 22
168 c PRX051 Peroxisome Biogenesis Disorder 6a 22
169 c PRX050 Peroxisome Biogenesis Disorder 9b 22
170 MCC003 Mucocele of Salivary Gland 22
171 c PRX058 Peroxisome Biogenesis Disorder 4b 22
172 c PRX047 Peroxisome Biogenesis Disorder 5b 22
173 c PRX062 Peroxisome Biogenesis Disorder 8b 21
174 c PRX066 Peroxisome Biogenesis Disorder 3b 20
175 CNG298 Congenital Pancreatic Cyst 20
176 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 19
177 P PRX064 Peroxisome Biogenesis Disorder 2b 19
178 PNC014 Pancreatic Serous Cystadenocarcinoma 18
179 c PRX068 Peroxisome Biogenesis Disorder 7b 18
180 c PRX089 Peroxisome Biogenesis Disorder 10b 18
181 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 17
182 c ATM064 Autoimmune Pancreatitis Type 1 15
183 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 14
184 SLD012 Solid Pseudopapillary Carcinoma of the Pancreas 13
185 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 12
186 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 8
187 LCR007 Lacrimal Gland Squamous Cell Carcinoma 8
188 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 7
189 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 6
190 BRN010 Bronchial Mucus Gland Adenoma 6
191 PLM014 Pleomorphic Adenoma 55
192 GRW007 Growth Hormone Deficiency 51
193 ADR009 Adrenal Cortex Disease 40
194 ADR022 Adrenomyeloneuropathy 39
195 SBC017 Sebaceous Gland Disease 38
196 ACR110 Acrodysostosis 1 with or Without Hormone Resistance 26
197 c THY071 Thyroid Dyshormonogenesis 1 23
198 MTC096 Mitchell-Riley Syndrome 23
199 PTT009 Pituitary Gland Disease 56
200 PNC016 Pancreatic Cholera 42
201 SWT003 Sweat Gland Disease 41
202 PRL010 Prolactin Producing Pituitary Tumor 40
203 ADR040 Adrenal Gland Pheochromocytoma 40
204 PNC019 Pancreatoblastoma 35
205 BRT014 Bartholin's Duct Cyst 32
206 EXT054 Extra-Adrenal Pheochromocytoma 30
207 GRW023 Growth Hormone Deficiency, Isolated Partial 28
208 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
209 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 22
210 PRP074 Peripheral Resistance to Thyroid Hormones 16
211 PRT100 Parotid Gland Adenoid Cystic Carcinoma 11
212 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 11
213 PNC009 Pancreas Sarcoma 11
214 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 9
215 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
216 c SLV006 Salivary Gland Cancer, Adult 6
217 P PNB001 Pineoblastoma 51
218 THY030 Thyroid Gland Disease 51
219 c RCR022 Recurrent Acute Pancreatitis 42
220 TSH001 Tsh Producing Pituitary Tumor 42
221 FLL031 Follicular Adenoma 41
222 ADR010 Adrenal Cortical Hypofunction 40
223 INP001 Inappropriate Adh Syndrome 39
224 PNC038 Pancreatic Cystadenocarcinoma 38
225 END038 Endocrine Pancreas Disease 36
226 ADR001 Adrenal Rest Tumor 35
227 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 32
228 PNC028 Pancreatic Steatorrhea 30
229 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 29
230 PPM002 Ppoma 29
231 ADN088 Adenoma of the Pancreas 28
232 PNC027 Pancreatic Gastrinoma 27
233 c NNS018 Nonsyndromic Paraganglioma 27
234 PNC039 Pancreatic Cystadenoma 25
235 BRT012 Bartholin's Gland Adenoma 24
236 c PRG020 Paragangliomas 3 24
237 c PRG021 Paragangliomas 4 24
238 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
239 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 23
240 FNC003 Functionless Pituitary Adenoma 22
241 c PRG019 Paragangliomas 2 22
242 GLN006 Glandular Cystitis 22
243 APC009 Apocrine Gland Secretion, Variation in 21
244 DPL009 Duplication of the Pituitary Gland 21
245 c THY063 Thyroid Dyshormonogenesis 4 21
246 THY026 Thymus Gland Disease 21
247 c PRG094 Paragangliomas 5 20
248 c THY056 Thyroid Dyshormonogenesis 3 20
249 c ADL025 Adult Pineoblastoma 18
250 c THY062 Thyroid Dyshormonogenesis 5 18
251 c THY110 Thyroid Dyshormonogenesis 6 18
252 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 15
253 SQM020 Squamous Cell Carcinoma of the Pancreas 13
254 BLT017 Bilateral Massive Adrenal Hemorrhage 12
255 c ATM063 Autoimmune Pancreatitis Type 2 11
256 SBM003 Submandibular Gland Disease 11
257 PNC024 Pancreatic Colloid Cystadenoma 10
258 FNC012 Functioning Pancreatic Endocrine Tumor 9
259 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 9
260 PNC007 Pancreas Lymphoma 8
261 BRT010 Bartholin's Gland Transitional Cell Carcinoma 8
262 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
263 SLV014 Salivary Gland Type Cancer of the Breast 8
264 PNC017 Pancreatic Serous Cystic Neoplasm 8
265 FLL045 Follicular Cholangitis and Pancreatitis 8
266 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
267 P CSH002 Cushing Syndrome, Familial 7
268 PNC031 Pancreatic Foamy Gland Adenocarcinoma 7
269 CHR002 Chronic Lacrimal Gland Enlargement 7
270 PNC037 Pancreatic Colloid Cystadenocarcinoma 6
271 ANL002 Anal Gland Neoplasm 6
272 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
273 PRL002 Prolapse of Lacrimal Gland 6
274 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 6
275 PNC040 Pancreatic Delta Cell Neoplasm 6
276 BRT003 Bartholin's Gland Small Cell Carcinoma 6
277 BRT007 Bartholin's Gland Squamous Cell Carcinoma 6
278 VGN021 Vaginal Glandular Tumor 6
279 VLV037 Vulvar Glandular Tumor 6
280 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
281 ADR006 Adrenal Gland Ganglioneuroblastoma 5
282 BRT009 Bartholin's Gland Adenomyoma 5
283 MNR001 Minor Vestibular Glands Adenoma 5
284 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
285 SLV007 Salivary Gland Cancer, Childhood 3
286 RSS003 Resistance to Lh 3
287 MBM001 Meibomian Cyst 32
288 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
289 PRT029 Parathyroid Adenoma 49
290 EXC002 Exocrine Pancreatic Insufficiency 43
291 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 32
292 PNC018 Pancreatic Serous Cystadenoma 30
293 CYT014 Cytochrome P450 Oxidoreductase Deficiency 25
294 ECC002 Eccrine Acrospiroma 25
295 MRT009 Martinez-Frias Syndrome 21
296 GLN001 Glandular Tularemia 15
297 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 11
298 CWP002 Cowper Gland Carcinoma 10
299 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
300 LTT003 Littre Gland Carcinoma 6
301 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
302 PNC055 Pancreatitis, Pediatric 4
303 P PRG013 Paraganglioma 56
304 MST005 Mastitis 55
305 NNF007 Non-Functioning Pituitary Adenoma 46
306 CHR034 Chromophobe Adenoma 42
307 P HYP599 Hypoparathyroidism, Familial Isolated 37
308 SBC009 Sebaceous Adenoma 37
309 FNC007 Functioning Pituitary Adenoma 36
310 PPL001 Papillary Adenoma 32
311 P PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 31
312 PTT001 Pituitary Hypoplasia 29
313 CLL009 Colloid Carcinoma of the Pancreas 28
314 IDP085 Idiopathic Infantile Hypercalcemia 27
315 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 26
316 THY016 Thyroid Hurthle Cell Adenoma 25
317 HLX001 Helix Syndrome 24
318 SLN005 Silent Pituitary Adenoma 24
319 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
320 VST005 Vestibular Gland Benign Neoplasm 23
321 BSP001 Basophil Adenoma 20
322 GRF006 Grfoma 19
323 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 18
324 PNC049 Pancreatic Adenoma 17
325 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 16
326 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 16
327 PNL001 Pineal Gland Astrocytoma 15
328 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 15
329 HYP611 Hypoparathyroidism, X-Linked 15
330 c CNG526 Congenital Nongoitrous Hypothryoidism 1 14
331 CHF001 Chief Cell Adenoma 14
332 TRY003 Trypsinogen Deficiency 14
333 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14
334 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 13
335 P CNG523 Congenital Nongoitrous Hypothryoidism 4 13
336 PRM146 Primary Unilateral Adrenal Hyperplasia 13
337 ECT055 Ectopic Aldosterone-Producing Tumor 12
338 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
339 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
340 IGG012 Igg4-Related Submandibular Gland Disease 12
341 PNC123 Pancreatic Insufficiency, Combined Exocrine 11
342 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 11
343 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
344 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
345 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 11
346 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 11
347 ECT097 Ectodermal Dysplasia with Adrenal Cyst 11
348 c CNG528 Congenital Nongoitrous Hypothryoidism 6 10
349 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
350 c CNG527 Congenital Nongoitrous Hypothryoidism 3 8
351 URT019 Urethral Gland Abscess 8
352 c CNG524 Congenital Nongoitrous Hypothryoidism 2 8
353 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 8
354 c PRS050 Prss1-Related Hereditary Pancreatitis 7
355 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
356 SMT017 Somatomammotropinoma 7
357 c CNG525 Congenital Nongoitrous Hypothryoidism 5 7
358 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
359 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
360 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 6
361 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 6
362 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
363 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
364 PNC026 Pancreatic Mucinous Ductal Ectasia 6
365 PNC125 Pancreatic Lymphoma, Familial 6
366 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
367 PRT020 Parathyroid Oncocytic Adenoma 5
368 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
369 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 5
370 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 5
371 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
372 c PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 5
373 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 5
374 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
375 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
376 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 1
377 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
378 P HYP086 Hypothyroidism 64
379 c GLY008 Glycogen Storage Disease Ii 64
380 P DBT009 Diabetes Mellitus 64
381 P CNG411 Congenital Disorder of Glycosylation, Type in 62
382 HYP056 Hypoglycemia 62
383 P GLY013 Glycogen Storage Disease 61
384 P GRV001 Graves' Disease 61
385 c CNG006 Congenital Hypothyroidism 60
386 P OVR049 Ovarian Disease 59
387 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 58
388 P HYP069 Hyperparathyroidism 58
389 c GLY060 Glycogen Storage Disease Ia 57
390 HYP060 Hyperinsulinism 56
391 P HYP076 Hyperthyroidism 56
392 P MLT074 Multiple Endocrine Neoplasia 55
393 P ACT010 Acth-Secreting Pituitary Adenoma 55
394 c GLY003 Glycogen Storage Disease Iii 55
395 P THY032 Thyroiditis 55
396 P HYP024 Hypoparathyroidism 54
397 c GLY004 Glycogen Storage Disease V 54
398 P DBT005 Diabetes Insipidus 54
399 GTR002 Goiter 52
400 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
401 c MLT086 Multiple Endocrine Neoplasia, Type Iv 52
402 P PRC019 Precocious Puberty 52
403 HYP080 Hypogonadism 51
404 c GLY007 Glycogen Storage Disease Iv 51
405 c CNT075 Central Precocious Puberty 51
406 c GLY005 Glycogen Storage Disease Vi 51
407 DBT004 Diabetic Polyneuropathy 51
408 HYP043 Hyperandrogenism 50
409 PTT004 Pituitary Apoplexy 50
410 P OVR046 Ovarian Cyst 50
411 P PRS049 Persistent Mullerian Duct Syndrome 49
412 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
413 ANV001 Anovulation 48
414 NDL007 Nodular Goiter 48
415 c GLY011 Glycogen Storage Disease Vii 48
416 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 47
417 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
418 P ATM019 Autoimmune Polyendocrine Syndrome 47
419 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 46
420 GYN001 Gynecomastia 46
421 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
422 GND003 Gonadal Disease 46
423 PRM013 Premature Menopause 45
424 c PTT057 Pituitary Adenoma 4, Acth-Secreting 45
425 GND001 Gonadoblastoma 45
426 DRM013 Dermoid Cyst 44
427 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 44
428 P OVR010 Ovarian Brenner Tumor 44
429 PSD009 Pseudohermaphroditism 44
430 LPP002 Lipoprotein Glomerulopathy 44
431 c GRV008 Graves Disease 1 43
432 MRG013 Mirage Syndrome 43
433 ACD008 Acid-Labile Subunit Deficiency 43
434 MYX004 Myxedema 43
435 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 43
436 END011 Endometriosis of Ovary 43
437 P MLT008 Multinodular Goiter 43
438 HYP070 Hyperpituitarism 43
439 PTT003 Pituitary-Dependent Cushing's Disease 42
440 c SBC007 Subacute Thyroiditis 42
441 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
442 HYP026 Hypoglycemic Coma 41
443 c HYP243 Hyperparathyroidism 1 41
444 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
445 c HYP311 Hyperparathyroidism 3 40
446 PLR009 Pol Iii-Related Leukodystrophies 40
447 c GLY098 Glycogen Storage Disease, Type Ixd 40
448 HYP064 Hypogonadotropism 40
449 ETH004 Euthyroid Sick Syndrome 40
450 OVR051 Ovarian Endodermal Sinus Tumor 40
451 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
452 HRM002 Hermaphroditism 39
453 ADN064 Adenohypophysitis 39
454 P HRD086 Hereditary Hypophosphatemic Rickets 39
455 END028 Endemic Goiter 39
456 c MLG059 Malignant Struma Ovarii 39
457 GRN009 Granulomatous Hepatitis 38
458 c THY107 Thymoma, Familial 37
459 ORC001 Orchitis 37
460 c SPR094 Sporadic Pheochromocytoma 37
461 SML028 Semilobar Holoprosencephaly 37
462 ATH010 Athyreosis 37
463 DYS017 Dysgerminoma of Ovary 37
464 OVR109 Ovarian Germ Cell Teratoma 37
465 EST004 Estrogen Excess 37
466 PLM011 Plummer's Disease 37
467 EST007 Estrogen Resistance 37
468 ALB014 Alobar Holoprosencephaly 36
469 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
470 NNT010 Nontoxic Goiter 36
471 P STR021 Struma Ovarii 36
472 HPT006 Hepatic Angiomyolipoma 36
473 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
474 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36
475 c GLY016 Glycogen Storage Disease Ib 35
476 LBR025 Lobar Holoprosencephaly 35
477 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
478 OHD005 Ohdo Syndrome, Sbbys Variant 34
479 LTM002 Luteoma 34
480 THY003 Thymic Dysplasia 34
481 c GLY023 Glycogen Storage Disease Type 0 34
482 P MXD016 Mixed Gonadal Dysgenesis 34
483 c CNG379 Congenital Disorder of Glycosylation, Type It 34
484 c TYP010 Type C Thymoma 34
485 c CNT101 Central Congenital Hypothyroidism 34
486 SXD001 Sex Differentiation Disease 33
487 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
488 P SRT002 Sertoli Cell Tumor 32
489 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 32
490 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 31
491 OVR017 Ovarian Cystic Teratoma 31
492 c OVR075 Ovarian Dysgenesis 1 31
493 c GLY044 Glycogen Storage Disease Ixc 31
494 SPT016 Septopreoptic Holoprosencephaly 31
495 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
496 EPS001 Epstein-Barr Virus Hepatitis 30
497 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
498 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 30
499 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
500 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
501 OVR048 Ovarian Cystadenoma 30
502 FNC050 Functioning Gonadotropic Adenoma 30
503 c CNG188 Congenital Disorder of Glycosylation, Type if 30
504 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
505 c GLY057 Glycogen Storage Disease X 29
506 c ATM068 Autoimmune Hypoparathyroidism 29
507 THY001 Thyroid Crisis 29
508 c ACT053 Acute Thyroiditis 29
509 IDP034 Idiopathic Central Precocious Puberty 29
510 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
511 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 29
512 ACD001 Acidophil Adenoma 29
513 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 29
514 c RBN008 Rubinstein-Taybi Syndrome 2 29
515 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
516 BCH003 Boucher-Neuhauser Syndrome 28
517 c BNG029 Benign Struma Ovarii 28
518 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
519 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
520 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
521 ECT003 Ectopic Thymus 28
522 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
523 NNT003 Neonatal Thyrotoxicosis 28
524 c GLY017 Glycogen Storage Disease Ic 28
525 KPP002 Keppen-Lubinsky Syndrome 28
526 MLL011 Mullerian Aplasia and Hyperandrogenism 27
527 CRT005 Cortical Thymoma 27
528 HYP029 Hyperthyroxinemia 27
529 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
530 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
531 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
532 c GLY043 Glycogen Storage Disease Xii 27
533 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
534 PST014 Postsurgical Hypothyroidism 26
535 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
536 c TYP035 Type 1 Diabetes Mellitus 11 26
537 THY007 Thymus Lipoma 26
538 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
539 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
540 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
541 c GLY097 Glycogen Storage Disease Ixb 26
542 SBS002 Substernal Goiter 26
543 MXD027 Mixed Type Thymoma 26
544 DND003 Dendritic Cell Thymoma 26
545 c TYP037 Type 1 Diabetes Mellitus 13 26
546 c GLY009 Glycogen Storage Disease Xv 26
547 P ATM067 Autoimmune Polyendocrinopathy Type 3 26
548 TXC004 Toxic Diffuse Goiter 25
549 PTT010 Pituitary Infarct 25
550 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
551 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
552 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
553 THY098 Thyroid Ectopia 25
554 SPP005 Suppurative Thyroiditis 25
555 c TYP033 Type 1 Diabetes Mellitus 7 25
556 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
557 PNL023 Penile Agenesis 25
558 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
559 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 24
560 c TYP032 Type 1 Diabetes Mellitus 6 24
561 P KNN002 Kenny-Caffey Syndrome 24
562 P SLP004 Salpingo-Oophoritis 24
563 HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 24
564 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
565 OVR056 Ovarian Primitive Germ Cell Tumor 24
566 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
567 IMM005 Immature Teratoma of Ovary 24
568 ATY007 Atypical Follicular Adenoma 24
569 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
570 MTR011 Mature Teratoma of the Ovary 23
571 P OVR076 Ovarian Dysgenesis 2 23
572 c TYP028 Type 1 Diabetes Mellitus 2 23
573 NNF008 Non-Functioning Paraganglioma 23
574 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
575 FRM001 Freemartinism 23
576 HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 23
577 MCN003 Mucinous Ovarian Cystadenoma 23
578 c TYP031 Type 1 Diabetes Mellitus 5 23
579 CRP004 Corpus Luteum Cyst 23
580 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
581 HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 23
582 HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 23
583 HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 22
584 OVR003 Ovarian Angiosarcoma 22
585 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
586 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 22
587 c GLY059 Glycogen Storage Disease Xiii 22
588 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
589 SPN048 Spindle Cell Thymoma 22
590 c TYP038 Type 1 Diabetes Mellitus 15 22
591 HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 22
592 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 22
593 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
594 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
595 MSC089 Mosaic Monosomy X 21
596 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
597 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
598 ENC001 Encapsulated Thymoma 21
599 HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 21
600 c TYP036 Type 1 Diabetes Mellitus 12 21
601 PNH004 Panhypophysitis 21
602 HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 20
603 c GLY006 Glycogen Storage Disease Viii 20
604 HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 20
605 PNL011 Pineal Region Germinoma 20
606 c TYP027 Type 1 Diabetes Mellitus 10 20
607 c PRC047 Precocious Puberty, Central, 1 20
608 HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 20
609 HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 20
610 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
611 HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 20
612 c ATM066 Autoimmune Polyendocrinopathy Type 4 20
613 HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 20
614 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
615 c OVR107 Ovarian Dysgenesis 4 19
616 HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 19
617 c TYP039 Type 1 Diabetes Mellitus 17 19
618 c PRC046 Precocious Puberty, Central, 2 19
619 c MLG022 Malignant Sertoli Cell Tumor 19
620 c MLG033 Malignant Ovarian Cyst 19
621 ATR009 Atrophy of Testis 19
622 OVR002 Ovarian Serous Cystadenofibroma 19
623 HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 19
624 HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 19
625 ENC002 Eunuchism 19
626 CRT065 Cortisone Reductase Deficiency 1 19
627 HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 19
628 TTR018 Tetragametic Chimerism 19
629 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 19
630 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 19
631 CRT066 Cortisone Reductase Deficiency 2 19
632 HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 19
633 PLY115 Polyendocrine-Polyneuropathy Syndrome 18
634 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 18
635 c PSD047 Pseudo-Turner Syndrome 18
636 THY004 Thyroid Angiosarcoma 18
637 c TYP040 Type 1 Diabetes Mellitus 18 18
638 LTN011 Late-Onset Isolated Acth Deficiency 18
639 6Q1001 6q16 Deletion Syndrome 18
640 c OVR115 Ovarian Dysgenesis 5 18
641 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 17
642 c HRD156 Hereditary Central Diabetes Insipidus 17
643 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
644 DYS008 Dyshormonogenic Goiter 17
645 c GLY093 Glycogen Storage Disease Ixa 17
646 c OVR102 Ovarian Dysgenesis 3 17
647 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 17
648 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
649 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
650 DST037 Distal Monosomy 9p 17
651 c HYP720 Hyperparathyroidism 4 16
652 c 46X002 46 Xx Gonadal Dysgenesis 16
653 GRN002 Granulomatous Orchitis 16
654 c THY086 Thymoma Type B 16
655 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
656 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 16
657 c TYP029 Type 1 Diabetes Mellitus 3 16
658 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 15
659 HYP645 Hyperthyroxinemia, Dystransthyretinemic 15
660 c ACQ034 Acquired Central Diabetes Insipidus 15
661 PDT003 Pediatric Ovarian Dysgerminoma 15
662 OVR037 Ovarian Solid Teratoma 15
663 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 15
664 XSM001 X Small Rings 15
665 PRT021 Parathyroid Transitional Clear Cell Adenoma 15
666 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
667 KLL013 Kallmann Syndrome-Heart Disease Syndrome 14
668 c MLG053 Malignant Ovarian Brenner Tumor 14
669 c TYP030 Type 1 Diabetes Mellitus 4 14
670 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 14
671 OVR009 Ovarian Gonadoblastoma 14
672 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 14
673 c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14
674 PLY009 Polyembryoma of the Ovary 14
675 MXD024 Mixed Epithelial Tumor of Ovary 14
676 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
677 XLN113 X-Linked Intellectual Disability, Van Esch Type 13
678 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 13
679 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 13
680 c TYP034 Type 1 Diabetes Mellitus 8 13
681 c CHR018 Chronic Salpingo-Oophoritis 13
682 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
683 CMB001 Combined Thymoma 13
684 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 13
685 c THY087 Thymoma Type Ab 12
686 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 12
687 PNL003 Pineal Region Meningioma 12
688 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
689 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
690 c GTR013 Goiter, Multinodular 2 12
691 46X015 46,xy Ovotesticular Disorder of Sex Development 12
692 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
693 c THY085 Thymoma Type a 12
694 c GLY001 Glycogen Storage Disease Ix 12
695 IGG015 Igg4-Related Thyroid Disease 12
696 PNN006 Panniculitis-Induced Localized Lipodystrophy 12
697 NLL003 Null Pituitary Adenoma 12
698 LPS003 Liposarcoma of the Ovary 11
699 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
700 OVR038 Ovarian Fetiform Teratoma 11
701 P OVR045 Ovarian Clear Cell Adenofibroma 11
702 MYX002 Myxoid Liposarcoma of the Ovary 11
703 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
704 IDP061 Idiopathic Congenital Hypothyroidism 11
705 OVR001 Ovarian Stromal Hyperthecosis 11
706 INT222 Intermediate Dend Syndrome 10
707 OVR039 Ovarian Mesodermal Adenosarcoma 10
708 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 10
709 c GTR014 Goiter, Multinodular 3 10
710 OVR057 Ovarian Serous Adenofibroma 10
711 ABN002 Abnormality of Glucagon Secretion 10
712 GNT039 Genetic Transient Congenital Hypothyroidism 10
713 c GRV009 Graves Disease 2 10
714 c SCN039 Secondary Central Precocious Puberty 9
715 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 9
716 OVR035 Ovary Leiomyosarcoma 9
717 PNL015 Pineal Region Teratoma 9
718 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9
719 TST008 Testis Polyembryoma 9
720 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
721 CLL011 Colloid Adenoma 8
722 c ACT031 Acute Salpingo-Oophoritis 8
723 LNG018 Lingual Goiter 8
724 c MLG040 Malignant Type Ab Thymoma 8
725 c MLG034 Malignant Type a Thymoma 8
726 P OVR052 Ovarian Endometrioid Adenofibroma 8
727 TST011 Testis Rhabdomyosarcoma 8
728 RDL003 Riedel's Fibrosing Thyroiditis 8
729 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
730 OVR023 Ovary Rhabdomyosarcoma 7
731 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
732 OVR031 Ovarian Papillary Cystadenoma 7
733 OVR008 Ovarian Mucinous Cystadenofibroma 7
734 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
735 THY020 Thyroid Hyalinizing Trabecular Adenoma 6
736 c PRD024 Prader-Willi Syndrome Due to Translocation 6
737 CHL036 Childhood Mature Teratoma of the Ovary 6
738 CHL063 Childhood Teratoma of the Ovary 6
739 CHL011 Childhood Immature Teratoma of Ovary 6
740 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 6
741 IDN001 Iodine Hypothyroidism 6
742 PST024 Post-Surgical Hypoinsulinemia 6
743 P OVR053 Ovarian Mucinous Adenofibroma 6
744 PNL004 Pineal Region Mature Teratoma 6
745 PNL005 Pineal Region Immature Teratoma 6
746 P RBN007 Rubinstein Taybi Like Syndrome 5
747 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
748 OVR019 Ovarian Malignant Mesothelioma 5
749 OVR032 Ovarian Surface Papilloma 5
750 MXD004 Mixed Eosinophil-Basophil Adenoma 5
751 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
752 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
753 SPR069 Sporadic Secreting Paraganglioma 5
754 PNL008 Pineal Dysgerminoma 5
755 c OVR071 Ovarian Insufficiency, Familial 5
756 OVR014 Ovarian Clear Cell Cystadenofibroma 4
757 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
758 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
759 OVR007 Ovarian Endometrioid Cystadenoma 4
760 OVR036 Ovarian Endometrioid Cystadenofibroma 4
761 THY002 Thyrocalcitonin Secretion Disease 4
762 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 4
763 THY021 Thyroid Malformation 4
764 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
765 MDL001 Medulloadrenal Hyperfunction 4
766 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
767 NNS030 Non-Secreting Chemodectoma 3
768 P PNC035 Pancreatic Cancer 79
769 ADR054 Adrenocortical Carcinoma, Hereditary 70
770 PRT010 Parathyroid Carcinoma 64
771 PNC119 Pancreatic Neuroendocrine Tumor 48
772 P MCK013 Meckel Syndrome, Type 1 59
773 c MCK033 Meckel Syndrome, Type 4 31
774 c MCK012 Meckel Syndrome, Type 6 30
775 c MCK030 Meckel Syndrome, Type 7 30
776 c MCK032 Meckel Syndrome, Type 3 26
777 c MCK031 Meckel Syndrome, Type 2 23
778 c MCK034 Meckel Syndrome, Type 8 23
779 c MCK014 Meckel Syndrome, Type 5 22
780 c MCK035 Meckel Syndrome, Type 10 22
781 c MCK026 Meckel Syndrome 12 22
782 c MCK036 Meckel Syndrome, Type 9 20
783 c MCK028 Meckel Syndrome 13 20
784 c MCK020 Meckel Syndrome, Type 11 19
785 END035 Endocrine Gland Cancer 49
786 THY028 Thyroid Cancer 66
787 SPT006 Septooptic Dysplasia 52
788 P SHW006 Shwachman-Diamond Syndrome 1 62
789 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 43
790 c SHW007 Shwachman-Diamond Syndrome 2 15
791 P LFR001 Li-Fraumeni Syndrome 70
792 PNC033 Pancreas Adenocarcinoma 64
793 c LFR007 Li-Fraumeni Syndrome 2 47
794 PNL014 Pineal Gland Cancer 45
795 MLN047 Melanoma-Pancreatic Cancer Syndrome 25
796 SBC011 Sebaceous Adenocarcinoma 42
797 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 34
798 FML063 Familial Glucocorticoid Deficiency 34
799 PNC013 Pancreatic Ductal Carcinoma 48
800 GRD009 Gordon Holmes Syndrome 38
801 ANL012 Anal Gland Adenocarcinoma 24
802 c PTT056 Pituitary Adenoma 1, Multiple Types 44
803 P LYD011 Leydig Cell Hypoplasia 35
804 c PTT060 Pituitary Adenoma 5, Multiple Types 16
805 c PTT061 Pituitary Adenoma 3, Multiple Types 14
806 BRT015 Bartholin's Gland Adenocarcinoma 9
807 ACR007 Acromegaly 69
808 PND002 Pendred Syndrome 55
809 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 51
810 ADR004 Adrenal Cortical Adenocarcinoma 46
811 APC004 Apocrine Adenocarcinoma 37
812 PTT048 Pituitary Adenoma, Prolactin-Secreting 57
813 PRT009 Parotid Gland Cancer 46
814 PNC015 Pancreatic Acinar Cell Adenocarcinoma 34
815 ACN026 Acinar Cell Carcinoma of Pancreas 25
816 c PNC103 Pancreatic Cancer 4 19
817 c PNC094 Pancreatic Cancer 1 16
818 c PNC095 Pancreatic Cancer 3 15
819 c PNC111 Pancreatic Cancer 2 15
820 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 54
821 PNC008 Pancreatic Endocrine Carcinoma 37
822 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 9
823 PNC051 Pancreatic Cancer, Childhood 4
824 P NPH012 Nephrotic Syndrome 59
825 SLD003 Sialadenitis 49
826 c NPH055 Nephrotic Syndrome, Type 1 46
827 GLN002 Glanders 41
828 c FML015 Familial Nephrotic Syndrome 34
829 c NPH049 Nephrotic Syndrome, Type 2 34
830 IMM064 Immunodeficiency, Common Variable, 10 32
831 c NPH054 Nephrotic Syndrome, Type 3 30
832 c NPH072 Nephrotic Syndrome, Type 7 29
833 c NPH047 Nephrotic Syndrome, Type 4 25
834 c NPH073 Nephrotic Syndrome, Type 8 21
835 c NPH074 Nephrotic Syndrome, Type 9 21
836 c NPH070 Nephrotic Syndrome, Type 6 20
837 c NPH096 Nephrotic Syndrome, Type 12 19
838 c NPH094 Nephrotic Syndrome 14 19
839 c NPH095 Nephrotic Syndrome, Type 11 19
840 c NPH076 Nephrotic Syndrome, Type 10 17
841 c NPH092 Nephrotic Syndrome 15 17
842 c NPH093 Nephrotic Syndrome, Type 13 17
843 c NPH101 Nephrotic Syndrome 16 15
844 PNC041 Pancreatic Ductal Adenocarcinoma 52
845 LCR009 Lacrimal Gland Adenocarcinoma 27
846 YRF001 Yorifuji Okuno Syndrome 7
847 c PSD108 Pseudohypoparathyroidism, Type Ia 56
848 c PSD066 Pseudohypoparathyroidism, Type Ib 53
849 PNC056 Pineocytoma 50
850 P PSD015 Pseudohypoparathyroidism 50
851 PTT008 Pituitary Carcinoma 46
852 c PSD117 Pseudohypoparathyroidism, Type Ic 36
853 GST051 Gastrointestinal Tuberculosis 34
854 c PSD104 Pseudohypoparathyroidism, Type Ii 33
855 ECC008 Eccrine Sweat Gland Neoplasm 25
856 P ACR049 Acrospiroma 18
857 c MLG048 Malignant Acrospiroma 18
858 TNG006 Tunglang Savage Bellman Syndrome 13
859 HYP249 Hyperthyroidism, Nonautoimmune 29
860 P PTT006 Pituitary Adenoma 52
861 ADR023 Adrenomyodystrophy 33
862 WDH001 Wdha Syndrome 33
863 DFF036 Differentiated Thyroid Carcinoma 49
864 MXD023 Mixed Cell Type Cancer 45
865 ANL011 Anal Canal Carcinoma 35
866 APC005 Apocrine Sweat Gland Neoplasm 28
867 ACN007 Acinar Cell Cystadenocarcinoma 25
868 ECC001 Eccrine Papillary Adenocarcinoma 22
869 THY031 Thyroid Sarcoma 21
870 STR088 Stratton-Parker Syndrome 20
871 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 20
872 MCP007 Mucoepidermoid Thyroid Carcinoma 17
873 MLT005 Multicentric Papillary Thyroid Carcinoma 16
874 TLL001 Tall Cell Variant Papillary Carcinoma 11
875 PST034 Posterior Pituitary Gland Neoplasm 10
876 CLM001 Columnar Cell Variant Papillary Carcinoma 9
877 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
878 FRS005 Fraser Jequier Chen Syndrome 5
879 P HPT021 Hepatitis 76
880 P LVR013 Liver Disease 75
881 c HPT073 Hepatitis C Virus 72
882 c HPT001 Hepatitis C 71
883 LVR012 Liver Cirrhosis 68
884 BDY004 Body Mass Index Quantitative Trait Locus 11 68
885 P TRN020 Turner Syndrome 68
886 c MYT021 Myotonic Dystrophy 1 68
887 c HPT016 Hepatitis B 67
888 P HLP001 Holoprosencephaly 66
889 P THY023 Thymoma 65
890 GLC006 Galactosemia 65
891 OVR029 Ovarian Hyperstimulation Syndrome 64
892 CRB011 Cerebrotendinous Xanthomatosis 63
893 P PLY011 Polycystic Ovary Syndrome 63
894 c OVR114 Ovarian Cancer 1 62
895 c ATM011 Autoimmune Hepatitis 62
896 P BRD002 Bardet-Biedl Syndrome 62
897 ALC006 Alcoholic Hepatitis 62
898 P PRD006 Prader-Willi Syndrome 61
899 c HPT003 Hepatitis a 61
900 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
901 STF001 Stiff-Person Syndrome 60
902 P MTR004 Maturity-Onset Diabetes of the Young 60
903 P PRT013 Portal Hypertension 59
904 DNH001 Donohue Syndrome 59
905 c VRL010 Viral Hepatitis 59
906 c PRM005 Primary Hyperparathyroidism 59
907 P HRD200 Hereditary Breast Ovarian Cancer Syndrome 58
908 c BRD014 Bardet-Biedl Syndrome 2 58
909 P HYP724 Hyperlipoproteinemia, Type Iii 58
910 c PRG018 Paragangliomas 1 58
911 c MYT020 Myotonic Dystrophy 2 56
912 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
913 HYP730 Hypogonadotropic Hypogonadism 56
914 P MYC084 Mycobacterium Tuberculosis 1 55
915 c TYR012 Tyrosinemia, Type I 54
916 P HYP050 Hyperinsulinemic Hypoglycemia 54
917 c BRD010 Bardet-Biedl Syndrome 1 54
918 APP015 Apparent Mineralocorticoid Excess 54
919 c CRP023 Carpenter Syndrome 1 54
920 HMZ003 Homozygous Familial Hypercholesterolemia 54
921 ALS001 Alstrom Syndrome 54
922 P PRM006 Primary Biliary Cirrhosis 53
923 c HPT007 Hepatitis E 53
924 SMT008 Smith-Magenis Syndrome 53
925 ALC009 Alcoholic Liver Cirrhosis 52
926 P HMG032 Hemoglobin H Disease 52
927 ARM001 Aromatase Deficiency 52
928 c HPT015 Hepatitis D 52
929 c ACT134 Acute Liver Failure 52
930 c FML012 Familial Partial Lipodystrophy 52
931 VTM027 Vitamin D-Dependent Rickets, Type 2a 51
932 HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 51
933 c WLF013 Wolfram Syndrome 1 51
934 GLC036 Glucagonoma 51
935 FRS002 Frasier Syndrome 50
936 c HYP739 Hyperlipoproteinemia, Type Iv 50
937 HYP732 Hyperalphalipoproteinemia 1 50
938 P MYT002 Myotonic Dystrophy 50
939 c CNG012 Congenital Generalized Lipodystrophy 50
940 P GND004 Gonadal Dysgenesis 50
941 SCN001 Secondary Hyperparathyroidism of Renal Origin 50
942 SHH001 Sheehan Syndrome 50
943 OVR012 Ovarian Serous Cystadenocarcinoma 48
944 HYP085 Hypothalamic Disease 48
945 P TYR004 Tyrosinemia 48
946 P NNT009 Neonatal Diabetes Mellitus 48
947 OVR059 Ovary Adenocarcinoma 47
948 HPT025 Hepatic Lipase Deficiency 47
949 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 47
950 P LYD001 Leydig Cell Tumor 47
951 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
952 CLN003 Clonorchiasis 47
953 P PRT078 Partial Lipodystrophy 46
954 c TYR013 Tyrosinemia, Type Ii 46
955 THY009 Thyroid Lymphoma 46
956 OVR060 Ovary Epithelial Cancer 46
957 GLC106 Glucocorticoid Resistance, Generalized 46
958 c BRD012 Bardet-Biedl Syndrome 11 45
959 c BRD044 Bardet-Biedl Syndrome 17 45
960 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 45
961 TST044 Testicular Torsion 45
962 FSH001 Fish-Eye Disease 45
963 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 45
964 GST030 Gastrinoma 44
965 P ACQ022 Acquired Generalized Lipodystrophy 44
966 c 46X001 46 Xy Gonadal Dysgenesis 44
967 P LSS036 Lissencephaly, X-Linked, 1 44
968 c HLP023 Holoprosencephaly 1 44
969 c BRD013 Bardet-Biedl Syndrome 12 44
970 TST015 Testicular Disease 44
971 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 44
972 LRN001 Laurence-Moon Syndrome 44
973 P OVR106 Ovarian Clear Cell Carcinoma 44
974 c LPD019 Lipodystrophy, Partial, Acquired 43
975 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 43
976 CRT046 Corticosteroid-Binding Globulin Deficiency 43
977 TRP014 Triploidy 42
978 c TYR011 Tyrosinemia, Type Iii 42
979 EMP001 Empty Sella Syndrome 42
980 c BRD016 Bardet-Biedl Syndrome 4 42
981 c BRD048 Bardet-Biedl Syndrome 18 42
982 PRC038 Precocious Puberty, Male-Limited 42
983 c BRD033 Bardet-Biedl Syndrome 13 41
984 DRG002 Drug-Induced Hepatitis 41
985 c BRD011 Bardet-Biedl Syndrome 10 41
986 46X012 46,xy Partial Gonadal Dysgenesis 41
987 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41
988 HYP776 Hyperparathyroidism, Neonatal Severe 40
989 c BRD020 Bardet-Biedl Syndrome 8 40
990 P HYP120 Hypoaldosteronism 40
991 c BRD015 Bardet-Biedl Syndrome 3 40
992 c BRD032 Bardet-Biedl Syndrome 14 40
993 c BRD018 Bardet-Biedl Syndrome 6 39
994 P SRT003 Sertoli-Leydig Cell Tumor 39
995 TRP009 Triple X Syndrome 39
996 c HLP026 Holoprosencephaly 3 39
997 c HMG001 Hemoglobin C Disease 39
998 ARC007 Arachnoid Cysts 39
999 c HLP024 Holoprosencephaly 2 39
1000 OVR034 Ovarian Clear Cell Adenocarcinoma 39
1001 c HLP029 Holoprosencephaly 4 38
1002 c BRD035 Bardet-Biedl Syndrome 15 38
1003 OVR105 Ovarian Serous Carcinoma 38
1004 INS006 Insulin Autoimmune Syndrome 38
1005 LPT006 Leptin Receptor Deficiency 38
1006 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 38
1007 c BRS110 Breast-Ovarian Cancer, Familial 1 37
1008 c BRD017 Bardet-Biedl Syndrome 5 37
1009 LPT014 Leptin Deficiency or Dysfunction 37
1010 c HYP768 Hyperlipoproteinemia, Type I 36
1011 THY108 Thymic Neuroendocrine Tumor 36
1012 DNC004 Diencephalic Syndrome 36
1013 MNN042 Meningioma, Radiation-Induced 36
1014 PLS002 Peliosis Hepatis 36
1015 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36
1016 LCL022 Localized Lipodystrophy 36
1017 c BLR024 Biliary Cirrhosis, Primary, 1 36
1018 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 35
1019 END002 Endometrioid Ovary Carcinoma 35
1020 c INF145 Infantile Liver Failure Syndrome 1 35
1021 BSM002 Bosma Arhinia Microphthalmia Syndrome 35
1022 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 35
1023 OVR054 Ovarian Mucinous Neoplasm 34
1024 OVR062 Ovary Serous Adenocarcinoma 34
1025 c BRD045 Bardet-Biedl Syndrome 19 34
1026 PSD021 Pseudovaginal Perineoscrotal Hypospadias 34
1027 SCH071 Schaaf-Yang Syndrome 34
1028 c HMG003 Hemoglobin E Disease 34
1029 OVR047 Ovarian Cystadenocarcinoma 34
1030 TMP012 Temple Syndrome 34
1031 CHR075 Choriocarcinoma of Ovary 34
1032 c WLF009 Wolfram Syndrome 2 34
1033 48X003 48,xxyy Syndrome 34
1034 OVR013 Ovarian Mucinous Cystadenocarcinoma 33
1035 RTN072 Retinohepatoendocrinologic Syndrome 33
1036 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 33
1037 49X002 49,xxxxy Syndrome 33
1038 BRN137 Bronchial Neuroendocrine Tumor 33
1039 c BRD047 Bardet-Biedl Syndrome 16 33
1040 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 33
1041 TST020 Testis Seminoma 33
1042 HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 32
1043 c HLP028 Holoprosencephaly 5 32
1044 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32
1045 c INV003 Invasive Malignant Thymoma 31
1046 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 31
1047 OVR104 Ovarian Melanoma 31
1048 CHR525 Chromosome Xq26.3 Duplication Syndrome 31
1049 PTT016 Patterson Pseudoleprechaunism Syndrome 30
1050 HPT081 Hepatic Infarction 30
1051 c PLY105 Polycystic Ovary Syndrome 1 30
1052 c HLP027 Holoprosencephaly 7 30
1053 PRG123 Progeroid Syndrome, Neonatal 30
1054 c LSS037 Lissencephaly, X-Linked, 2 30
1055 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 30
1056 c MLG072 Malignant Leydig Cell Tumor 29
1057 c KNN009 Kenny-Caffey Syndrome, Type 1 29
1058 MCH011 Meacham Syndrome 29
1059 PRP098 Proprotein Convertase 1/3 Deficiency 29
1060 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
1061 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 29
1062 CLL036 Culler-Jones Syndrome 28
1063 THY024 Thymus Adenocarcinoma 28
1064 c BRD019 Bardet-Biedl Syndrome 7 28
1065 OVR011 Ovarian Mucinous Adenocarcinoma 28
1066 MXD014 Mixed Ductal-Endocrine Carcinoma 28
1067 NTM001 Nutmeg Liver 28
1068 TST007 Testicular Infarct 28
1069 TTR013 Tetrasomy X 28
1070 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 27
1071 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 27
1072 c LVR030 Liver Failure, Infantile, Transient 27
1073 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
1074 46X057 46,xy Sex Reversal 8 27
1075 c CRP022 Carpenter Syndrome 2 27
1076 PGD001 Pagod Syndrome 26
1077 EPT007 Epithelial Malignant Thymoma 26
1078 OVR021 Ovarian Lymphoma 26
1079 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 26
1080 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
1081 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 26
1082 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
1083 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 26
1084 PRD001 Predominantly Cortical Thymoma 26
1085 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
1086 c LPD034 Lipodystrophy, Familial Partial, Type 4 25
1087 c BRD050 Bardet-Biedl Syndrome 21 25
1088 c HLP025 Holoprosencephaly 9 25
1089 CRT020 Cortisone Reductase Deficiency 25
1090 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1091 LVR004 Liver Inflammatory Pseudotumor 25
1092 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1093 c HLP016 Holoprosencephaly 11 24
1094 HYP344 Hyperthyroidism, Familial Gestational 23
1095 OVR027 Ovarian Squamous Cell Carcinoma 23
1096 c HMG004 Hemoglobin D Disease 23
1097 c BRD021 Bardet-Biedl Syndrome 9 23
1098 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23
1099 c HMG029 Hemoglobin Se Disease 23
1100 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 23
1101 GNT043 Genitopalatocardiac Syndrome 22
1102 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 22
1103 P TST016 Testicular Granulosa Cell Tumor 22
1104 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
1105 c BRD051 Bardet-Biedl Syndrome 20 22
1106 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 22
1107 HYP610 Hypothyroidism, Central, and Testicular Enlargement 21
1108 OVR061 Ovary Sarcoma 21
1109 48X002 48,xxxy Syndrome 21
1110 GRW032 Growth Factors, Combined Defect of 21
1111 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
1112 c BRS088 Breast-Ovarian Cancer, Familial 3 21
1113 BNG086 Bangstad Syndrome 21
1114 c INF138 Infantile Liver Failure Syndrome 2 21
1115 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1116 FTL005 Fetal Adenoma 21
1117 c HLP022 Holoprosencephaly 8 21
1118 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 20
1119 LVR005 Liver Leiomyoma 20
1120 MTC025 Mitochondrial Myopathy with Diabetes 20
1121 INS009 Insulin-Resistance Type B 20
1122 OVR015 Ovarian Mixed Germ Cell Neoplasm 19
1123 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 19
1124 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
1125 c HYP819 Hyperlipoproteinemia, Type Id 19
1126 c BRS111 Breast-Ovarian Cancer, Familial 2 19
1127 EPD017 Epididymis Cancer 19
1128 TST035 Testicular Anomalies with or Without Congenital Heart Disease 19
1129 TST010 Testicular Spermatocytic Seminoma 19
1130 MXD007 Mixed Hepatoblastoma 19
1131 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 18
1132 NNG002 Non-Gestational Ovarian Choriocarcinoma 18
1133 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1134 TST005 Testicular Gonadoblastoma 18
1135 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 18
1136 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 18
1137 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
1138 SBC005 Subacute Lymphocytic Thyroiditis 17
1139 c BRS098 Breast-Ovarian Cancer, Familial 4 17
1140 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
1141 c OVR041 Ovarian Benign Neoplasm 17
1142 OVR033 Ovary Papillary Carcinoma 17
1143 c BLR016 Biliary Cirrhosis, Primary, 2 17
1144 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
1145 PNL009 Pineal Region Choriocarcinoma 16
1146 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
1147 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
1148 MLG035 Malignant Ovarian Mixed Epithelial Neoplasm 16
1149 PPL015 Papillary Thymic Adenocarcinoma 15
1150 OVR022 Ovary Mixed Epithelial Carcinoma 15
1151 LVR010 Liver Leiomyosarcoma 15
1152 XLN112 X-Linked Intellectual Disability, Cilliers Type 15
1153 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1154 OVR040 Ovarian Clear Cell Cystadenocarcinoma 15
1155 LVR009 Liver Rhabdomyosarcoma 15
1156 TST012 Testicular Fibroma 15
1157 NRN032 Neuroendocrine Tumor of Anal Canal 14
1158 GLL034 Gallbladder Neuroendocrine Tumor 14
1159 c NNS019 Nonsyndromic Holoprosencephaly 14
1160 INF124 Infundibulo-Neurohypophysitis 13
1161 THY017 Thymus Sarcomatoid Carcinoma 13
1162 c HLP021 Holoprosencephaly 6 13
1163 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
1164 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
1165 c FML275 Familial Hypoaldosteronism 13
1166 PDT022 Pediatric Ovarian Germ Cell Tumor 13
1167 c BLR017 Biliary Cirrhosis, Primary, 3 13
1168 THY010 Thymus Mucoepidermoid Carcinoma 12
1169 OVR026 Ovary Transitional Cell Carcinoma 12
1170 OBS060 Obesity Due to Sim1 Deficiency 12
1171 ADL056 Adult Pineal Parenchymal Tumor 12
1172 GST035 Gestational Ovarian Choriocarcinoma 12
1173 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1174 NNN002 Noninvasive Malignant Thymoma 12
1175 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
1176 THY006 Thymus Lymphoma 12
1177 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 11
1178 THY011 Thymus Basaloid Carcinoma 11
1179 c BLR025 Biliary Cirrhosis, Primary, 4 10
1180 c BLR026 Biliary Cirrhosis, Primary, 5 10
1181 MYT025 Myotubular Myopathy with Abnormal Genital Development 10
1182 BSP002 Basophilic Carcinoma 10
1183 HYP053 Hypercalcemic Type Ovarian Small Cell Carcinoma 10
1184 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 9
1185 LVR001 Liver Lipoma 9
1186 c MYC055 Mycobacterium Tuberculosis 3 9
1187 ANL010 Anal Neuroendocrine Tumor 9
1188 MLG017 Malignant Tumor of Undescended Testis 9
1189 TST041 Testicular Germ Cell Tumor Non-Seminomatous 9
1190 c THY008 Thymus Small Cell Carcinoma 9
1191 c THY018 Thymus Clear Cell Carcinoma 9
1192 TST019 Testis Sarcoma 9
1193 THY012 Thymus Adenosquamous Carcinoma 9
1194 c MYC054 Mycobacterium Tuberculosis 2 9
1195 OVR055 Ovarian Papillary Neoplasm 8
1196 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
1197 OVR020 Ovarian Wilms' Cancer 8
1198 TST013 Testicular Thecoma 8
1199 PPL010 Papillary Follicular Thyroid Adenocarcinoma 8
1200 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
1201 MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 8
1202 c ADL043 Adult Type Testicular Granulosa Cell Tumor 8
1203 LVR008 Liver Fibrosarcoma 7
1204 LVR007 Liver Fibroma 7
1205 GST003 Gastrin Secretion Abnormality 7
1206 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1207 NRH002 Neurohypophysis Granular Cell Tumor 7
1208 CHL038 Childhood Choriocarcinoma of the Ovary 7
1209 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1210 TST002 Testicular Brenner Tumor 6
1211 NNN001 Nonencapsulated Sclerosing Carcinoma 6
1212 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 6
1213 TRB001 Trabecular Follicular Adenocarcinoma 6
1214 PNL010 Pineal Region Yolk Sac Tumor 6
1215 IDN004 Iodine Antenatal Exposure 6
1216 RTV002 Rete Ovarii Adenocarcinoma 6
1217 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
1218 MCR005 Macrotrabecular Hepatoblastoma 6
1219 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1220 TBL005 Tubular Variant Testicular Seminoma 6
1221 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 6
1222 CRB003 Cribriform Variant Testicular Seminoma 6
1223 SLD001 Solid Pattern Testicular Yolk Sac Tumor 6
1224 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 6
1225 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 6
1226 PSD013 Pseudoglandular Variant Testicular Seminoma 6
1227 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 6
1228 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 6
1229 NNR001 Non-Renal Secondary Hyperparathyroidism 5
1230 TST042 Testicular Pure Germ Cell Tumor 5
1231 OVR016 Ovarian Endometrioid Stromal Sarcoma 5
1232 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1233 FML019 Familiar Ovarian Carcinoma 5
1234 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 5
1235 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 5
1236 P SYC001 Say Carpenter Syndrome 5
1237 c MLG021 Malignant Sertoli-Leydig Cell Tumor 5
1238 c PRT053 Portal Hypertension Due to Infrahepatic Block 3
1239 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 59
1240 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 48
1241 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 37
1242 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 32
1243 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 23
1244 SMT003 Somatostatinoma 53
1245 VPM001 Vipoma 51
1246 ADN011 Adenoid Cystic Carcinoma 65
1247 P THY102 Thyroid Cancer, Nonmedullary, 2 63
1248 LYS012 Lysosomal Acid Lipase Deficiency 60
1249 ZLL002 Zollinger-Ellison Syndrome 58
1250 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
1251 c THY100 Thyroid Cancer, Nonmedullary, 4 16
1252 c THY101 Thyroid Cancer, Nonmedullary, 5 16
1253 c THY117 Thyroid Cancer, Nonmedullary, 3 14
1254 c HYP731 Hyperaldosteronism, Familial, Type I 56
1255 PSD014 Pseudopseudohypoparathyroidism 55
1256 ALB001 Albright's Hereditary Osteodystrophy 52
1257 P FML156 Familial Hyperaldosteronism 35
1258 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
1259 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
1260 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
1261 HDR006 Hidradenocarcinoma 46
1262 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
1263 IMM177 Immunodeficiency 54 22
1264 SPT019 Septo-Optic Dysplasia Spectrum 28
1265 P BRT004 Bartter Disease 51
1266 46X052 46,xx Sex Reversal 1 51
1267 c BRT042 Bartter Syndrome, Type 3 41
1268 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
1269 c BRT024 Bartter Syndrome Type 4 19
1270 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 12
1271 P OVR042 Ovarian Cancer 81
1272 P ATX030 Ataxia-Telangiectasia 79
1273 P NNN008 Noonan Syndrome 1 77
1274 P PHC003 Pheochromocytoma 73
1275 SCK003 Sickle Cell Anemia 72
1276 WLS001 Wilson Disease 71
1277 c MLT156 Multiple Endocrine Neoplasia, Type I 71
1278 c BTT014 Beta-Thalassemia 69
1279 P SRC025 Sarcoidosis 1 66
1280 c MLT160 Multiple Endocrine Neoplasia, Type Iia 65
1281 INS001 Insulinoma 65
1282 P THL005 Thalassemia 64
1283 CRN036 Craniopharyngioma 64
1284 VLC001 Velocardiofacial Syndrome 63
1285 ANP031 Anaplastic Thyroid Cancer 63
1286 HYP020 Hyperprolactinemia 63
1287 CHR072 Chordoma 63
1288 P HYP802 Hypocalcemia, Autosomal Dominant 1 62
1289 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1290 DBT087 Diabetes Insipidus, Neurohypophyseal 60
1291 DBT083 Diabetes Mellitus, Permanent Neonatal 60
1292 CRC006 Carcinoid Syndrome 60
1293 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1294 c ALP101 Alpha-Thalassemia 59
1295 NRN004 Neuroendocrine Tumor 58
1296 HYP190 Hypoalphalipoproteinemia, Primary 58
1297 c MLT159 Multiple Endocrine Neoplasia, Type Iib 58
1298 AND002 Androgen Insensitivity Syndrome 56
1299 HPT022 Hepatoblastoma 55
1300 DNY001 Denys-Drash Syndrome 53
1301 HPT009 Hepatopulmonary Syndrome 53
1302 CHY002 Chylomicron Retention Disease 52
1303 P SHR029 Short Syndrome 51
1304 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 50
1305 PRT018 Portal Vein Thrombosis 50
1306 CRC014 Carcinoid Tumors, Intestinal 50
1307 c RBN021 Rubinstein-Taybi Syndrome 1 49
1308 c NNN010 Noonan Syndrome 3 49
1309 NLS001 Nelson Syndrome 48
1310 P FML068 Familial Hypocalciuric Hypercalcemia 48
1311 c HYP740 Hyperlipoproteinemia, Type V 48
1312 CMP034 Complete Androgen Insensitivity Syndrome 47
1313 PTT041 Pituitary Stalk Interruption Syndrome 47
1314 SXC001 Sex Cord-Gonadal Stromal Tumor 47
1315 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 47
1316 LVR002 Liver Angiosarcoma 46
1317 FML091 Familial Tumoral Calcinosis 46
1318 CRN055 Carney Triad 45
1319 ONC003 Oncogenic Osteomalacia 45
1320 OVR112 Ovarian Germ Cell Cancer 44
1321 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
1322 RNL051 Renal Cysts and Diabetes Syndrome 44
1323 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 43
1324 c SHR030 Short Qt Syndrome 43
1325 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42
1326 TST004 Testicular Lymphoma 42
1327 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
1328 P TST026 Testicular Germ Cell Cancer 41
1329 DBT090 Diabetes and Deafness, Maternally Inherited 40
1330 ANR018 Anorchia 40
1331 HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 39
1332 ARM004 Aromatase Excess Syndrome 39
1333 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1334 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1335 GBL002 Goblet Cell Carcinoid 37
1336 HPT020 Hepatic Vascular Disease 36
1337 APL017 Apolipoprotein C-Ii Deficiency 36
1338 OVR044 Ovarian Carcinosarcoma 36
1339 P CNT037 Central Nervous System Germinoma 36
1340 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
1341 c NNN012 Noonan Syndrome 5 34
1342 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1343 DDN002 Duodenal Gastrinoma 33
1344 P PRR025 Perrault Syndrome 33
1345 c FML294 Familial Short Qt Syndrome 33
1346 KRK001 Krukenberg Carcinoma 33
1347 TST003 Testicular Leukemia 32
1348 c NNN011 Noonan Syndrome 4 32
1349 STY001 Satoyoshi Syndrome 31
1350 c OVR058 Ovarian Small Cell Carcinoma 31
1351 P TST001 Testicular Leydig Cell Tumor 30
1352 LVR014 Liver Sarcoma 30
1353 c KNN007 Kenny-Caffey Syndrome, Type 2 29
1354 c SRC023 Sarcoidosis 2 29
1355 OPT032 Optic Pathway Glioma 29
1356 FTL062 Fetal Iodine Deficiency Disorder 29
1357 CRT039 Corticosterone Methyloxidase Type I Deficiency 28
1358 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 28
1359 MLG078 Malignant Pineal Area Germ Cell Neoplasm 28
1360 c NNN021 Noonan Syndrome 8 28
1361 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
1362 c NNN024 Noonan Syndrome 9 27
1363 THY096 Thyroid Carcinoma, Hurthle Cell 27
1364 c NNN025 Noonan Syndrome 10 26
1365 c NNN013 Noonan Syndrome 6 26
1366 THY106 Thyroglossal Duct Cyst, Familial 26
1367 c NNN009 Noonan Syndrome 2 26
1368 ARD001 Aredyld 25
1369 SCL007 Sclerosing Hepatic Carcinoma 25
1370 c PRR026 Perrault Syndrome 5 25
1371 c PRR020 Perrault Syndrome 1 25
1372 RCT005 Rectum Neuroendocrine Neoplasm 24
1373 c NNN020 Noonan Syndrome 7 23
1374 HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 23
1375 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1376 c SHR032 Short Qt Syndrome 2 22
1377 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 22
1378 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
1379 c PRR024 Perrault Syndrome 3 22
1380 HYP683 Hypogonadism-Cataract Syndrome 22
1381 DFN313 Deafness-Hypogonadism Syndrome 21
1382 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1383 c PRR021 Perrault Syndrome 4 21
1384 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 20
1385 LVR006 Liver Lymphoma 20
1386 c SHR031 Short Qt Syndrome 1 20
1387 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 20
1388 MRB006 Morbid Obesity and Spermatogenic Failure 20
1389 NRN045 Neuroendocrine Neoplasm of Appendix 20
1390 c SHR033 Short Qt Syndrome 3 20
1391 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 19
1392 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
1393 c PRR022 Perrault Syndrome 2 18
1394 c TST017 Testicular Malignant Germ Cell Cancer 17
1395 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1396 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
1397 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
1398 c PRR033 Perrault Syndrome 6 16
1399 OVR004 Ovary Neuroendocrine Neoplasm 16
1400 c SRC024 Sarcoidosis 3 16
1401 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
1402 HYD021 Hydrocephalus Obesity Hypogonadism 15
1403 JJN009 Jejunal Neuroendocrine Tumor 15
1404 NRC007 Neuroectodermal Endocrine Syndrome 15
1405 THY092 Thymic Neuroendocrine Carcinoma 13
1406 HPT011 Hepatocellular Clear Cell Carcinoma 13
1407 P THY005 Thymus Large Cell Carcinoma 13
1408 THY027 Thymus Squamous Cell Carcinoma 13
1409 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 11
1410 PDT023 Pediatric Testicular Germ Cell Tumor 11
1411 PRS017 Prostate Neuroendocrine Neoplasm 11
1412 MDD017 Middle Ear Neuroendocrine Tumor 11
1413 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 11
1414 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 11
1415 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 10
1416 LVR003 Liver Carcinoma in Situ 9
1417 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
1418 c ADL036 Adult Central Nervous System Germinoma 7
1419 CHL064 Childhood Testicular Mixed Germ Cell Tumor 7
1420 TST009 Testis Refractory Cancer 7
1421 NRN043 Neuroendocrine Neoplasm of Esophagus 6
1422 INT252 Intestinal Neuroendocrine Benign Tumor 6
1423 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1424 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1425 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1426 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
1427 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
1428 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1429 DYS002 Dysplastic Nevus Syndrome 36
1430 c THY109 Thyroid Cancer, Nonmedullary, 1 56
1431 SQM013 Squamous Cell Carcinoma, Head and Neck 76
1432 PFF001 Pfeiffer Syndrome 73
1433 THY111 Thyroid Carcinoma, Familial Medullary 69
1434 MTC056 Mitochondrial Dna Depletion Syndrome 4a 51
1435 P HPT023 Hepatocellular Carcinoma 94
1436 P ALG028 Alagille Syndrome 1 73
1437 VNH007 Von Hippel-Lindau Syndrome 69
1438 P FRG001 Fragile X Syndrome 69
1439 SMT004 Smith-Lemli-Opitz Syndrome 68
1440 MCC012 Mccune-Albright Syndrome 64
1441 TNG002 Tangier Disease 64
1442 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1443 ABT001 Abetalipoproteinemia 63
1444 P KLL001 Kallmann Syndrome 63
1445 P WLF004 Wolfram Syndrome 61
1446 THY025 Thymus Cancer 60
1447 P INT001 Intrahepatic Cholestasis 60
1448 KRN002 Kearns-Sayre Syndrome 60
1449 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
1450 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 59
1451 c LPD015 Lipodystrophy, Familial Partial, Type 2 59
1452 MRK001 Merkel Cell Carcinoma 58
1453 BDD001 Budd-Chiari Syndrome 58
1454 CMP005 Campomelic Dysplasia 57
1455 HPT046 Hepatic Veno-Occlusive Disease 57
1456 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1457 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
1458 TST014 Testicular Cancer 53
1459 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
1460 FBR086 Fibrolamellar Carcinoma 51
1461 AND020 Androgen Insensitivity, Partial 51
1462 HPT014 Hepatorenal Syndrome 49
1463 HYP741 Hyperparathyroidism 2 with Jaw Tumors 48
1464 c ADL096 Adult Hepatocellular Carcinoma 48
1465 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
1466 c MCR256 Microphthalmia, Syndromic 9 46
1467 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 46
1468 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 44
1469 TST018 Testicular Yolk Sac Tumor 44
1470 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
1471 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1472 MRT007 Martsolf Syndrome 41
1473 c MCR263 Microphthalmia, Syndromic 1 40
1474 PRG017 Paraganglioma and Gastric Stromal Sarcoma 40
1475 c MCR261 Microphthalmia, Syndromic 2 39
1476 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 39
1477 P MCR241 Microphthalmia, Syndromic 3 38
1478 GST004 Gastric Neuroendocrine Neoplasm 37
1479 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
1480 EMB006 Embryonal Testis Carcinoma 34
1481 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
1482 CHP002 Chops Syndrome 31
1483 TST033 Testicular Regression Syndrome 31
1484 c MCR251 Microphthalmia, Syndromic 6 30
1485 IMM179 Immunodeficiency 31c 29
1486 MHM001 Mehmo Syndrome 28
1487 c MCR245 Microphthalmia, Syndromic 8 27
1488 P FML168 Familial Isolated Pituitary Adenoma 27
1489 INT041 Intratubular Embryonal Carcinoma 27
1490 c ALG016 Alagille Syndrome 2 27
1491 c MCR252 Microphthalmia, Syndromic 5 26
1492 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 25
1493 c MCR212 Microphthalmia, Syndromic 12 25
1494 c MCR228 Microphthalmia, Syndromic 13 23
1495 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
1496 SML004 Small Intestine Neuroendocrine Neoplasm 23
1497 c MCR262 Microphthalmia, Syndromic 4 23
1498 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
1499 c MCR217 Microphthalmia, Syndromic 11 22
1500 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
1501 NRN033 Neuroendocrine Tumor of the Colon 20
1502 c MCR312 Microphthalmia, Syndromic 10 20
1503 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1504 LRY013 Laryngeal Neuroendocrine Tumor 16
1505 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1506 CLN014 Colon Neuroendocrine Neoplasm 11
1507 c KLL008 Kallmann Syndrome 6 10
1508 HPT017 Hepatic Osteogenic Sarcoma 10
1509 c KLL006 Kallmann Syndrome 4 9
1510 CHL043 Childhood Embryonal Testis Carcinoma 9
1511 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 9
1512 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1513 c KLL005 Kallmann Syndrome 3 8
1514 CHL048 Childhood Teratocarcinoma of the Testis 8
1515 c KLL007 Kallmann Syndrome 5 8
1516 c FRG004 Fragile X Syndrome Type 1 4
1517 c FRG005 Fragile X Syndrome Type 2 4
1518 c FRG006 Fragile X Syndrome Type 3 4
1519 INS024 Insulin-Like Growth Factor I 82
1520 HSH003 Hashimoto Thyroiditis 63
1521 CFF002 Coffin-Lowry Syndrome 57
1522 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50
1523 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
1524 MMS001 Momo Syndrome 30
1525 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
1526 CHR506 Choroideremia, Deafness, and Mental Retardation 24
1527 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1528 P DBT085 Diabetes Mellitus, Insulin-Dependent 65
1529 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 28
1530 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
1531 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 19
1532 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 19
1533 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 16
1534 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
1535 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 15
1536 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
1537 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
1538 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 14
1539 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
1540 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 13
1541 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 13
1542 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 13
1543 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 13
1544 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 13
1545 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
1546 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
1547 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
1548 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 13



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