Endocrine Diseases Category (1689 diseases)


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

# Family MCID Name MIFTS
1 ISL014 Isolated Growth Hormone Deficiency, Type Ia 53
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 55
6 ISL003 Isolated Growth Hormone Deficiency 51
7 ADR008 Adrenal Adenoma 51
8 ISL114 Isolated Growth Hormone Deficiency, Type Ii 49
9 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 32
10 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 40
11 PNC120 Pancreas, Dorsal, Agenesis of 24
12 c LYD012 Leydig Cell Hypoplasia, Type I 32
13 ISL125 Isolated Growth Hormone Deficiency Type Iii 28
14 P PHC003 Pheochromocytoma 72
15 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52
16 CNN003 Conn's Syndrome 73
17 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
18 HYP780 Hypoadrenocorticism, Familial 63
19 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 58
20 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 41
21 PTT044 Pituitary Hormone Deficiency, Combined, 4 28
22 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 49
23 ADR012 Adrenal Gland Disease 47
24 SWT002 Sweat Gland Cancer 42
25 ISL015 Isolated Growth Hormone Deficiency, Type Ib 45
26 PNC048 Pancreatic Lipase Deficiency 34
27 P GNR008 Generalized Resistance to Thyroid Hormone 36
28 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 52
29 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 31
30 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 25
31 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 18
32 ACT238 Acth Deficiency, Isolated 48
33 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 14
34 PRR005 Paraurethral Gland Cancer 14
35 LRN002 Laron Syndrome 64
36 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 46
37 P SLV026 Salivary Gland Carcinoma 56
38 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
39 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 58
40 SLV025 Salivary Gland Adenoma, Pleomorphic 34
41 LCR011 Lacrimal Gland Carcinoma 28
42 NRN044 Neuroendocrine Carcinoma of Pancreas 16
43 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 16
44 SLV003 Salivary Gland Disease 38
45 ADR014 Adrenal Medulla Cancer 30
46 ISL001 Islet Cell Tumor 50
47 BRT045 Bartholin's Gland Benign Neoplasm 37
48 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 38
49 P PNC045 Pancreatic Agenesis 40
50 CMB021 Combined Pituitary Hormone Deficiency 36
51 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 30
52 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29
53 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 24
54 INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 16
55 P ACT150 Acute Adrenal Insufficiency 52
56 PNC118 Pancreas, Annular 40
57 NNF001 Non-Functioning Pancreatic Endocrine Tumor 33
58 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
59 PNC029 Pancreatic Acth Hormone Producing Tumor 6
60 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
61 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 18
62 PTT046 Pituitary Hormone Deficiency, Combined, 2 61
63 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 53
64 TRP008 Tropical Calcific Pancreatitis 51
65 c PNC106 Pancreatic Agenesis 1 48
66 c ATM024 Autoimmune Pancreatitis 48
67 GRW026 Growth Hormone Insensitivity, Partial 27
68 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 45
69 HRM003 Hormone Producing Pituitary Cancer 37
70 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 36
71 OST141 Osteoclastic Giant Cell Tumor of Pancreas 14
72 THY053 Thyroid Hormone Plasma Membrane Transport Defect 12
73 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 10
74 GLC042 Glucocorticoid Deficiency 1 40
75 ACC005 Accessory Pancreas 16
76 THY069 Thyroid Hormone Resistance, Selective Pituitary 26
77 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 22
78 KWR001 Kowarski Syndrome 20
79 c PNC105 Pancreatic Agenesis 2 18
80 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
81 PRT030 Parathyroid Gland Disease 47
82 P GRW001 Growth Hormone Secreting Pituitary Adenoma 43
83 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 42
84 c 46X051 46,xy Sex Reversal 1 42
85 THY039 Thyrotropin-Releasing Hormone Deficiency 37
86 MXD003 Mixed Lacrimal Gland Cancer 33
87 c 46X057 46,xy Sex Reversal 8 27
88 c 46X048 46,xx Sex Reversal 2 26
89 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 24
90 TMR001 Tumor of Exocrine Pancreas 24
91 SBM004 Submandibular Gland Cancer 22
92 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 18
93 HYP746 Hypersecretion of Adrenal Androgens, Familial 11
94 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 8
95 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
96 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 3
97 ADR041 Adrenal Cortical Adenoma 46
98 APL002 Aplasia of Lacrimal and Salivary Glands 43
99 HDR004 Hidradenoma 42
100 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38
101 ADR003 Adrenal Neuroblastoma 25
102 PNC127 Pancreatic Adenosquamous Carcinoma 24
103 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 24
104 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 17
105 PTT043 Pituitary Hormone Deficiency, Combined, 6 16
106 PNC034 Pancreas Disease 56
107 P HYP083 Hypopituitarism 44
108 c PRM093 Premature Ovarian Failure 7 38
109 P THY061 Thyroid Dyshormonogenesis 2a 37
110 SLL001 Sialolithiasis 31
111 PNC104 Pancreatic and Cerebellar Agenesis 26
112 CHL075 Cheilitis Glandularis 25
113 c PRM089 Premature Ovarian Failure 3 23
114 THY064 Thyroid Hormone Metabolism, Abnormal 23
115 c PRM254 Premature Ovarian Failure 11 22
116 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
117 c PRM192 Premature Ovarian Failure 8 22
118 PNC014 Pancreatic Serous Cystadenocarcinoma 21
119 c PRM207 Premature Ovarian Failure 10 21
120 c PRM253 Premature Ovarian Failure 13 19
121 c PRM090 Premature Ovarian Failure 6 19
122 c PRM091 Premature Ovarian Failure 2b 19
123 c PRM094 Premature Ovarian Failure 5 18
124 c PRM255 Premature Ovarian Failure 12 18
125 FBR065 Fibrocalculous Pancreatopathy 18
126 c PRM191 Premature Ovarian Failure 9 17
127 P PRM176 Premature Ovarian Failure 2a 16
128 c PRM292 Premature Ovarian Failure 14 15
129 c PRM295 Premature Ovarian Failure 15 14
130 ISL123 Isolated Growth Hormone Deficiency, Type Iv 13
131 LCR007 Lacrimal Gland Squamous Cell Carcinoma 11
132 SBL001 Sublingual Gland Cancer 11
133 c FML072 Familial Hypopituitarism 8
134 ECT093 Ectopic Cushing Syndrome 52
135 HYP189 Hypoadrenalism 41
136 c SCN052 Secondary Adrenal Insufficiency 41
137 ALC005 Alcoholic Pancreatitis 38
138 PNC002 Pancreatic Mucinous Cystadenoma 37
139 ATM078 Autoimmune Addison Disease 32
140 WTR001 Waterhouse-Friderichsen Syndrome 31
141 MCC003 Mucocele of Salivary Gland 31
142 PNC006 Pancreatic Somatostatinoma 30
143 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 25
144 c ATM064 Autoimmune Pancreatitis Type 1 23
145 CNG298 Congenital Pancreatic Cyst 19
146 SLD012 Solid Pseudopapillary Carcinoma of the Pancreas 19
147 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 19
148 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 17
149 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 12
150 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 10
151 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 8
152 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 7
153 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 6
154 BRN010 Bronchial Mucus Gland Adenoma 6
155 P HYP076 Hyperthyroidism 56
156 PTT009 Pituitary Gland Disease 55
157 GRW007 Growth Hormone Deficiency 52
158 PLM014 Pleomorphic Adenoma 49
159 INP001 Inappropriate Adh Syndrome 45
160 ADR022 Adrenomyeloneuropathy 41
161 ADR009 Adrenal Cortex Disease 38
162 BRT014 Bartholin's Duct Cyst 37
163 SBC017 Sebaceous Gland Disease 36
164 c THY071 Thyroid Dyshormonogenesis 1 27
165 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 26
166 MTC096 Mitchell-Riley Syndrome 23
167 P PNB001 Pineoblastoma 52
168 PRL010 Prolactin Producing Pituitary Tumor 41
169 PNC016 Pancreatic Cholera 37
170 ADR040 Adrenal Gland Pheochromocytoma 37
171 EXT054 Extra-Adrenal Pheochromocytoma 36
172 PNC019 Pancreatoblastoma 36
173 SWT003 Sweat Gland Disease 34
174 GRW023 Growth Hormone Deficiency, Isolated Partial 27
175 c ADL025 Adult Pineoblastoma 26
176 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
177 BRT012 Bartholin's Gland Adenoma 24
178 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
179 PRP074 Peripheral Resistance to Thyroid Hormones 16
180 PRT100 Parotid Gland Adenoid Cystic Carcinoma 11
181 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 11
182 PNC009 Pancreas Sarcoma 11
183 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 11
184 c SLV006 Salivary Gland Cancer, Adult 11
185 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 8
186 VLV037 Vulvar Glandular Tumor 7
187 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 7
188 VGN021 Vaginal Glandular Tumor 7
189 MNR001 Minor Vestibular Glands Adenoma 7
190 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
191 BRT010 Bartholin's Gland Transitional Cell Carcinoma 6
192 BRT007 Bartholin's Gland Squamous Cell Carcinoma 6
193 BRT009 Bartholin's Gland Adenomyoma 6
194 P PLY011 Polycystic Ovary Syndrome 64
195 P HYP086 Hypothyroidism 63
196 c PTT057 Pituitary Adenoma 4, Acth-Secreting 53
197 P ACT010 Acth-Secreting Pituitary Adenoma 52
198 TSH001 Tsh Producing Pituitary Tumor 49
199 c PLY105 Polycystic Ovary Syndrome 1 45
200 THY030 Thyroid Gland Disease 43
201 ALD013 Aldosterone-Producing Adenoma 41
202 PNC039 Pancreatic Cystadenoma 39
203 FLL031 Follicular Adenoma 39
204 END038 Endocrine Pancreas Disease 38
205 ADR001 Adrenal Rest Tumor 37
206 ADR010 Adrenal Cortical Hypofunction 37
207 PNC038 Pancreatic Cystadenocarcinoma 34
208 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 34
209 THY026 Thymus Gland Disease 32
210 PNC028 Pancreatic Steatorrhea 31
211 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 30
212 ADN088 Adenoma of the Pancreas 30
213 c NNS018 Nonsyndromic Paraganglioma 28
214 PPM002 Ppoma 28
215 PNC027 Pancreatic Gastrinoma 26
216 GLN006 Glandular Cystitis 25
217 c THY056 Thyroid Dyshormonogenesis 3 25
218 c THY063 Thyroid Dyshormonogenesis 4 25
219 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 24
220 APC009 Apocrine Gland Secretion, Variation in 23
221 DPL009 Duplication of the Pituitary Gland 22
222 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
223 HYP705 Hyperadrenalism 20
224 BLT017 Bilateral Massive Adrenal Hemorrhage 19
225 c THY062 Thyroid Dyshormonogenesis 5 18
226 c THY110 Thyroid Dyshormonogenesis 6 18
227 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 18
228 FNC003 Functionless Pituitary Adenoma 18
229 SBM003 Submandibular Gland Disease 16
230 SQM020 Squamous Cell Carcinoma of the Pancreas 15
231 PNC007 Pancreas Lymphoma 11
232 PNC017 Pancreatic Serous Cystic Neoplasm 10
233 PNC024 Pancreatic Colloid Cystadenoma 9
234 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
235 SLV014 Salivary Gland Type Cancer of the Breast 8
236 P CSH002 Cushing Syndrome, Familial 8
237 FLL045 Follicular Cholangitis and Pancreatitis 8
238 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
239 PNC031 Pancreatic Foamy Gland Adenocarcinoma 7
240 PNC037 Pancreatic Colloid Cystadenocarcinoma 6
241 ANL002 Anal Gland Neoplasm 6
242 PRL002 Prolapse of Lacrimal Gland 6
243 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 6
244 CHR002 Chronic Lacrimal Gland Enlargement 6
245 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 6
246 PNC040 Pancreatic Delta Cell Neoplasm 6
247 FNC012 Functioning Pancreatic Endocrine Tumor 6
248 ADR006 Adrenal Gland Ganglioneuroblastoma 5
249 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
250 SLV007 Salivary Gland Cancer, Childhood 3
251 RSS003 Resistance to Lh 3
252 c CNG006 Congenital Hypothyroidism 63
253 P MMP001 Mumps 59
254 P PTT006 Pituitary Adenoma 53
255 MBM001 Meibomian Cyst 34
256 CYT014 Cytochrome P450 Oxidoreductase Deficiency 33
257 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 24
258 c PTT060 Pituitary Adenoma 5, Multiple Types 16
259 c CNG110 Congenital Mumps 7
260 ADN018 Adenoma 64
261 P HYP069 Hyperparathyroidism 59
262 PRT029 Parathyroid Adenoma 51
263 HYP085 Hypothalamic Disease 47
264 EXC002 Exocrine Pancreatic Insufficiency 40
265 PPL017 Papillary Hidradenoma 34
266 ECC002 Eccrine Acrospiroma 34
267 PNC018 Pancreatic Serous Cystadenoma 33
268 BRT060 Bartholin's Gland Disease 32
269 VST005 Vestibular Gland Benign Neoplasm 23
270 MRT009 Martinez-Frias Syndrome 21
271 PNC126 Pancreatic Squamous Cell Carcinoma 18
272 PNC049 Pancreatic Adenoma 16
273 GLN001 Glandular Tularemia 14
274 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 11
275 CWP002 Cowper Gland Carcinoma 10
276 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 7
277 ISL124 Isolated Growth Hormone Deficiency, Type V 7
278 PNC055 Pancreatitis, Pediatric 6
279 LTT003 Littre Gland Carcinoma 6
280 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
281 P GRV001 Graves' Disease 61
282 c GRV008 Graves Disease 1 60
283 P PRG013 Paraganglioma 58
284 MST005 Mastitis 57
285 PTT004 Pituitary Apoplexy 48
286 NNF007 Non-Functioning Pituitary Adenoma 43
287 P HYP120 Hypoaldosteronism 39
288 FNC007 Functioning Pituitary Adenoma 39
289 CHR034 Chromophobe Adenoma 39
290 SBC009 Sebaceous Adenoma 39
291 GGN002 Gigantism 37
292 CLL009 Colloid Carcinoma of the Pancreas 32
293 PPL001 Papillary Adenoma 31
294 P PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 30
295 IDP085 Idiopathic Infantile Hypercalcemia 30
296 PTT001 Pituitary Hypoplasia 29
297 HLX001 Helix Syndrome 29
298 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 28
299 THY016 Thyroid Hurthle Cell Adenoma 27
300 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
301 GRF006 Grfoma 19
302 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 19
303 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 19
304 SLN005 Silent Pituitary Adenoma 17
305 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 16
306 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 16
307 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 15
308 PNL001 Pineal Gland Astrocytoma 15
309 CHF001 Chief Cell Adenoma 15
310 HYP611 Hypoparathyroidism, X-Linked 15
311 BSP001 Basophil Adenoma 14
312 IGG012 Igg4-Related Submandibular Gland Disease 14
313 PRM146 Primary Unilateral Adrenal Hyperplasia 14
314 TRY003 Trypsinogen Deficiency 14
315 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14
316 GLC107 Glucocorticoid Deficiency 5 14
317 c PTT061 Pituitary Adenoma 3, Multiple Types 14
318 c FML275 Familial Hypoaldosteronism 13
319 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 13
320 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 13
321 ECT055 Ectopic Aldosterone-Producing Tumor 12
322 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 12
323 PNC123 Pancreatic Insufficiency, Combined Exocrine 11
324 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
325 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
326 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 11
327 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 11
328 ECT097 Ectodermal Dysplasia with Adrenal Cyst 11
329 c GRV009 Graves Disease 2 9
330 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
331 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 8
332 URT019 Urethral Gland Abscess 8
333 SMT017 Somatomammotropinoma 7
334 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
335 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
336 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
337 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 6
338 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 6
339 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
340 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
341 PNC125 Pancreatic Lymphoma, Familial 6
342 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
343 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
344 PRT020 Parathyroid Oncocytic Adenoma 5
345 BLN023 Bile and Pancreatic Ducts, Complete Absence of 5
346 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 5
347 PNC026 Pancreatic Mucinous Ductal Ectasia 5
348 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 5
349 c PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 5
350 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 5
351 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
352 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
353 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 1
354 P ATX030 Ataxia-Telangiectasia 84
355 P NNN008 Noonan Syndrome 1 79
356 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 77
357 P SRC025 Sarcoidosis 1 76
358 VNH007 Von Hippel-Lindau Syndrome 72
359 P ALG028 Alagille Syndrome 1 72
360 ADR007 Adrenoleukodystrophy 72
361 P DBT085 Diabetes Mellitus, Insulin-Dependent 72
362 c HPT001 Hepatitis C 70
363 c HPT016 Hepatitis B 70
364 P LPR021 Leprosy 3 70
365 P FRG001 Fragile X Syndrome 70
366 P TRN020 Turner Syndrome 69
367 SMT004 Smith-Lemli-Opitz Syndrome 69
368 c PRM196 Premature Ovarian Failure 1 69
369 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 66
370 LVR012 Liver Cirrhosis 66
371 c GLY008 Glycogen Storage Disease Ii 66
372 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 65
373 P THL005 Thalassemia 65
374 TNG002 Tangier Disease 64
375 CRB011 Cerebrotendinous Xanthomatosis 62
376 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
377 P WLF004 Wolfram Syndrome 61
378 LYS012 Lysosomal Acid Lipase Deficiency 61
379 CFF002 Coffin-Lowry Syndrome 61
380 P PRT013 Portal Hypertension 60
381 P GLY013 Glycogen Storage Disease 60
382 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
383 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60
384 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 60
385 c NNN010 Noonan Syndrome 3 59
386 HPT046 Hepatic Veno-Occlusive Disease 59
387 P OVR049 Ovarian Disease 58
388 c WLF013 Wolfram Syndrome 1 56
389 HYP060 Hyperinsulinism 55
390 LPR001 Lepromatous Leprosy 55
391 P HYP050 Hyperinsulinemic Hypoglycemia 55
392 P THY032 Thyroiditis 53
393 P OVR046 Ovarian Cyst 53
394 GTR002 Goiter 53
395 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
396 c CNT075 Central Precocious Puberty 53
397 HYP080 Hypogonadism 52
398 HPT009 Hepatopulmonary Syndrome 52
399 P DBT005 Diabetes Insipidus 52
400 HYP741 Hyperparathyroidism 2 with Jaw Tumors 52
401 P BRS053 Breast Fibroadenoma 51
402 ACD008 Acid-Labile Subunit Deficiency 51
403 NNT017 Neonatal Adrenoleukodystrophy 50
404 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
405 DBT004 Diabetic Polyneuropathy 50
406 HYP043 Hyperandrogenism 50
407 ANV001 Anovulation 49
408 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 49
409 TBR006 Tuberculoid Leprosy 49
410 JHN001 Johanson-Blizzard Syndrome 49
411 P TYR004 Tyrosinemia 49
412 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
413 c MLT086 Multiple Endocrine Neoplasia, Type Iv 49
414 c NNN012 Noonan Syndrome 5 48
415 c CNG012 Congenital Generalized Lipodystrophy 48
416 c BRD044 Bardet-Biedl Syndrome 17 48
417 DRM013 Dermoid Cyst 48
418 PLR009 Pol Iii-Related Leukodystrophies 48
419 c CRP023 Carpenter Syndrome 1 48
420 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
421 P NNT009 Neonatal Diabetes Mellitus 47
422 P ATM019 Autoimmune Polyendocrine Syndrome 47
423 LPP002 Lipoprotein Glomerulopathy 47
424 GYN001 Gynecomastia 47
425 HYP347 Hypotonia-Cystinuria Syndrome 47
426 P OVR010 Ovarian Brenner Tumor 47
427 c BDY007 Body Mass Index Quantitative Trait Locus 1 47
428 NDL007 Nodular Goiter 46
429 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
430 END011 Endometriosis of Ovary 46
431 P PRT026 Parotitis 45
432 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 45
433 DBT090 Diabetes and Deafness, Maternally Inherited 45
434 MYX004 Myxedema 45
435 c GLY023 Glycogen Storage Disease Type 0 45
436 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
437 GND001 Gonadoblastoma 44
438 PRM013 Premature Menopause 44
439 GND003 Gonadal Disease 44
440 c BRD033 Bardet-Biedl Syndrome 13 44
441 PRS127 Pearson Marrow-Pancreas Syndrome 44
442 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
443 c NNN009 Noonan Syndrome 2 44
444 c SHR030 Short Qt Syndrome 43
445 c BRD048 Bardet-Biedl Syndrome 18 43
446 c TYR011 Tyrosinemia, Type Iii 43
447 P MLT008 Multinodular Goiter 43
448 c SBC007 Subacute Thyroiditis 42
449 PSD009 Pseudohermaphroditism 42
450 MRG013 Mirage Syndrome 42
451 PRS042 Prostate Disease 42
452 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
453 c BRD035 Bardet-Biedl Syndrome 15 42
454 c MCR263 Microphthalmia, Syndromic 1 42
455 c GLY098 Glycogen Storage Disease, Type Ixd 42
456 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 41
457 ETH004 Euthyroid Sick Syndrome 41
458 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
459 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
460 DYS017 Dysgerminoma of Ovary 41
461 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
462 OVR051 Ovarian Endodermal Sinus Tumor 41
463 c HLP029 Holoprosencephaly 4 40
464 EST004 Estrogen Excess 40
465 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 40
466 DYS101 Dysgerminoma 40
467 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
468 c HLP024 Holoprosencephaly 2 40
469 c MLG059 Malignant Struma Ovarii 40
470 END028 Endemic Goiter 40
471 HYP026 Hypoglycemic Coma 40
472 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
473 c HLP026 Holoprosencephaly 3 40
474 ADN064 Adenohypophysitis 40
475 c NNN011 Noonan Syndrome 4 40
476 HYP064 Hypogonadotropism 39
477 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
478 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
479 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
480 PTT003 Pituitary-Dependent Cushing's Disease 39
481 SML028 Semilobar Holoprosencephaly 39
482 c NNN013 Noonan Syndrome 6 39
483 ADN075 Adenomyoma 39
484 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 39
485 c BRD032 Bardet-Biedl Syndrome 14 39
486 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
487 SXD001 Sex Differentiation Disease 39
488 ORC001 Orchitis 38
489 HYP070 Hyperpituitarism 38
490 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
491 c BLR024 Biliary Cirrhosis, Primary, 1 38
492 ATH010 Athyreosis 38
493 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 38
494 ALB014 Alobar Holoprosencephaly 38
495 HRM002 Hermaphroditism 37
496 HPT006 Hepatic Angiomyolipoma 37
497 PLM011 Plummer's Disease 37
498 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
499 LBR025 Lobar Holoprosencephaly 37
500 EST007 Estrogen Resistance 37
501 THY007 Thymus Lipoma 37
502 P STR021 Struma Ovarii 37
503 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
504 OVR109 Ovarian Germ Cell Teratoma 37
505 c SPR094 Sporadic Pheochromocytoma 36
506 c CNG188 Congenital Disorder of Glycosylation, Type if 36
507 c NNN021 Noonan Syndrome 8 36
508 OHD005 Ohdo Syndrome, Sbbys Variant 36
509 c BRD045 Bardet-Biedl Syndrome 19 36
510 c NNN024 Noonan Syndrome 9 36
511 OVR017 Ovarian Cystic Teratoma 35
512 c CNG379 Congenital Disorder of Glycosylation, Type It 35
513 LTM002 Luteoma 35
514 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
515 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
516 c BRD047 Bardet-Biedl Syndrome 16 35
517 c MLG157 Malignant Pheochromocytoma 34
518 c LPR022 Leprosy 2 34
519 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 34
520 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 34
521 IND004 Indeterminate Leprosy 34
522 OVR048 Ovarian Cystadenoma 34
523 THY003 Thymic Dysplasia 34
524 c OVR075 Ovarian Dysgenesis 1 34
525 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
526 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
527 THY001 Thyroid Crisis 33
528 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
529 SPT016 Septopreoptic Holoprosencephaly 33
530 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
531 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 33
532 NNT010 Nontoxic Goiter 32
533 c HLP028 Holoprosencephaly 5 32
534 NNT003 Neonatal Thyrotoxicosis 32
535 c BNG029 Benign Struma Ovarii 32
536 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
537 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 32
538 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
539 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
540 c NNN025 Noonan Syndrome 10 31
541 GRN009 Granulomatous Hepatitis 31
542 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
543 P SRT002 Sertoli Cell Tumor 30
544 MCR014 Microcystic Adenoma 30
545 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 30
546 EPS001 Epstein-Barr Virus Hepatitis 30
547 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 30
548 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 30
549 c HLP027 Holoprosencephaly 7 30
550 c GLY057 Glycogen Storage Disease X 30
551 c ACT053 Acute Thyroiditis 30
552 c ATM068 Autoimmune Hypoparathyroidism 30
553 PTT010 Pituitary Infarct 30
554 PST014 Postsurgical Hypothyroidism 30
555 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
556 BRD005 Borderline Leprosy 30
557 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 29
558 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
559 c TYP035 Type 1 Diabetes Mellitus 11 29
560 c RBN008 Rubinstein-Taybi Syndrome 2 29
561 c GLY017 Glycogen Storage Disease Ic 29
562 c NPH102 Nephrotic Syndrome, Type 14 29
563 MXD027 Mixed Type Thymoma 29
564 c NNN020 Noonan Syndrome 7 29
565 c TYP037 Type 1 Diabetes Mellitus 13 29
566 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
567 HYP029 Hyperthyroxinemia 28
568 c TYP032 Type 1 Diabetes Mellitus 6 28
569 IDP034 Idiopathic Central Precocious Puberty 28
570 CRT005 Cortical Thymoma 28
571 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
572 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 28
573 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
574 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
575 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
576 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 28
577 c TYP033 Type 1 Diabetes Mellitus 7 27
578 P KNN002 Kenny-Caffey Syndrome 27
579 ECT003 Ectopic Thymus 27
580 KPP002 Keppen-Lubinsky Syndrome 27
581 c CRP022 Carpenter Syndrome 2 27
582 OVR056 Ovarian Primitive Germ Cell Tumor 27
583 P ATM067 Autoimmune Polyendocrinopathy Type 3 27
584 TXC004 Toxic Diffuse Goiter 27
585 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
586 c PRR026 Perrault Syndrome 5 26
587 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
588 MCN003 Mucinous Ovarian Cystadenoma 26
589 c BRD050 Bardet-Biedl Syndrome 21 26
590 CPL001 Capillariasis 26
591 c TYP028 Type 1 Diabetes Mellitus 2 26
592 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 26
593 ACD001 Acidophil Adenoma 26
594 PNL023 Penile Agenesis 26
595 OVR003 Ovarian Angiosarcoma 26
596 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
597 MTR011 Mature Teratoma of the Ovary 26
598 SBS002 Substernal Goiter 26
599 FNC050 Functioning Gonadotropic Adenoma 26
600 ATY007 Atypical Follicular Adenoma 25
601 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
602 c HLP025 Holoprosencephaly 9 25
603 c TYP036 Type 1 Diabetes Mellitus 12 25
604 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
605 c GLY001 Glycogen Storage Disease Ix 25
606 SPP005 Suppurative Thyroiditis 25
607 THY098 Thyroid Ectopia 25
608 c PRC047 Precocious Puberty, Central, 1 25
609 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
610 c TYP010 Type C Thymoma 25
611 SPN048 Spindle Cell Thymoma 25
612 c TYP031 Type 1 Diabetes Mellitus 5 25
613 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 25
614 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 25
615 IMM005 Immature Teratoma of Ovary 24
616 DND003 Dendritic Cell Thymoma 24
617 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 24
618 c TYP027 Type 1 Diabetes Mellitus 10 24
619 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
620 CRP004 Corpus Luteum Cyst 24
621 c BRD051 Bardet-Biedl Syndrome 20 24
622 c HLP016 Holoprosencephaly 11 24
623 c MCR228 Microphthalmia, Syndromic 13 24
624 c TYP038 Type 1 Diabetes Mellitus 15 24
625 c SHR031 Short Qt Syndrome 1 23
626 FRM001 Freemartinism 23
627 c SHR032 Short Qt Syndrome 2 23
628 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 23
629 OVR002 Ovarian Serous Cystadenofibroma 23
630 c 46X030 46,xy Sex Reversal 9 23
631 P OVR076 Ovarian Dysgenesis 2 23
632 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 23
633 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 23
634 IGG015 Igg4-Related Thyroid Disease 23
635 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 23
636 c LPR023 Leprosy 1 22
637 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
638 c 46X058 46,xy Sex Reversal 10 22
639 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 22
640 c MLG022 Malignant Sertoli Cell Tumor 22
641 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22
642 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 22
643 c MCR217 Microphthalmia, Syndromic 11 22
644 c 46X017 46,xy Sex Reversal 6 22
645 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 22
646 NNF008 Non-Functioning Paraganglioma 22
647 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
648 c HLP022 Holoprosencephaly 8 22
649 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 22
650 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 22
651 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21
652 CLL011 Colloid Adenoma 21
653 MSC089 Mosaic Monosomy X 21
654 c TYP039 Type 1 Diabetes Mellitus 17 21
655 c PRR021 Perrault Syndrome 4 21
656 c 46X056 46,xy Sex Reversal 5 21
657 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
658 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 21
659 c SHR033 Short Qt Syndrome 3 21
660 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
661 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 21
662 ENC001 Encapsulated Thymoma 21
663 c 46X047 46,xy Sex Reversal 7 21
664 PNH004 Panhypophysitis 21
665 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 21
666 c HYP564 Hypocalcemia, Autosomal Dominant 2 20
667 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 20
668 THY004 Thyroid Angiosarcoma 20
669 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 20
670 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
671 OVR057 Ovarian Serous Adenofibroma 20
672 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 20
673 c HYP819 Hyperlipoproteinemia, Type Id 20
674 PRD041 Periodic Fever, Menstrual Cycle-Dependent 20
675 c MLG033 Malignant Ovarian Cyst 20
676 c TYP040 Type 1 Diabetes Mellitus 18 20
677 c ATM066 Autoimmune Polyendocrinopathy Type 4 20
678 TTR018 Tetragametic Chimerism 20
679 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
680 CRT066 Cortisone Reductase Deficiency 2 20
681 c OVR107 Ovarian Dysgenesis 4 20
682 c PRC046 Precocious Puberty, Central, 2 20
683 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 20
684 c TYP034 Type 1 Diabetes Mellitus 8 20
685 CRT065 Cortisone Reductase Deficiency 1 19
686 c OVR115 Ovarian Dysgenesis 5 19
687 c TYP030 Type 1 Diabetes Mellitus 4 19
688 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 19
689 c PRG094 Paragangliomas 5 19
690 c 46X059 46,xx Sex Reversal 4 19
691 PLY115 Polyendocrine-Polyneuropathy Syndrome 19
692 DYS008 Dyshormonogenic Goiter 19
693 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 19
694 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 19
695 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 19
696 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 18
697 c PRR022 Perrault Syndrome 2 18
698 c HYP720 Hyperparathyroidism 4 18
699 DST037 Distal Monosomy 9p 18
700 LTN011 Late-Onset Isolated Acth Deficiency 18
701 c MLG053 Malignant Ovarian Brenner Tumor 18
702 6Q1001 6q16 Deletion Syndrome 18
703 c 46X002 46 Xx Gonadal Dysgenesis 18
704 c PRR033 Perrault Syndrome 6 18
705 c 46X050 46,xx Sex Reversal 3 18
706 c 46X046 46,xy Sex Reversal 4 17
707 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 17
708 P SLP004 Salpingo-Oophoritis 17
709 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 17
710 c GLY093 Glycogen Storage Disease Ixa 17
711 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
712 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 17
713 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 17
714 MYP026 Myopathy - Thyrotoxic 17
715 c OVR102 Ovarian Dysgenesis 3 17
716 c TYP029 Type 1 Diabetes Mellitus 3 17
717 GRN002 Granulomatous Orchitis 17
718 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 17
719 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
720 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
721 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
722 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 17
723 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
724 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 16
725 OVR037 Ovarian Solid Teratoma 16
726 c LPR017 Leprosy 5 16
727 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 16
728 PDT003 Pediatric Ovarian Dysgerminoma 16
729 ENC002 Eunuchism 16
730 c MLT120 Multiple Fibroadenomas of the Breast 15
731 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
732 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 15
733 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
734 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 15
735 HYP645 Hyperthyroxinemia, Dystransthyretinemic 15
736 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
737 c LPR016 Leprosy 4 15
738 OVR009 Ovarian Gonadoblastoma 15
739 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
740 XSM001 X Small Rings 15
741 c NNS019 Nonsyndromic Holoprosencephaly 15
742 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 15
743 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 15
744 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
745 PRT021 Parathyroid Transitional Clear Cell Adenoma 15
746 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
747 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 15
748 c LPR020 Leprosy 6 15
749 c SRC024 Sarcoidosis 3 14
750 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 14
751 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 14
752 ATR009 Atrophy of Testis 14
753 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
754 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
755 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 14
756 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 14
757 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 14
758 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 14
759 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
760 MXD024 Mixed Epithelial Tumor of Ovary 14
761 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 14
762 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 14
763 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 14
764 XLN113 X-Linked Intellectual Disability, Van Esch Type 13
765 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
766 c HLP021 Holoprosencephaly 6 13
767 CMB001 Combined Thymoma 13
768 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
769 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 13
770 c OVR118 Ovarian Dysgenesis 6 13
771 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
772 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
773 c BLR016 Biliary Cirrhosis, Primary, 2 13
774 c GTR013 Goiter, Multinodular 2 13
775 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
776 PNL003 Pineal Region Meningioma 13
777 MYX002 Myxoid Liposarcoma of the Ovary 13
778 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 13
779 P HYP284 Hypospadias 1, X-Linked 12
780 PLY003 Polycystic Echinococcosis 12
781 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
782 46X015 46,xy Ovotesticular Disorder of Sex Development 12
783 LPS003 Liposarcoma of the Ovary 12
784 PNL011 Pineal Region Germinoma 12
785 OVR035 Ovary Leiomyosarcoma 12
786 OVR001 Ovarian Stromal Hyperthecosis 12
787 P OVR045 Ovarian Clear Cell Adenofibroma 12
788 c HYP270 Hypospadias 2, X-Linked 12
789 THY020 Thyroid Hyalinizing Trabecular Adenoma 12
790 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 12
791 PNN006 Panniculitis-Induced Localized Lipodystrophy 12
792 c BDY013 Body Mass Index Quantitative Trait Locus 5 12
793 c MYC055 Mycobacterium Tuberculosis 3 12
794 NLL003 Null Pituitary Adenoma 11
795 c BLR025 Biliary Cirrhosis, Primary, 4 11
796 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
797 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
798 c GTR014 Goiter, Multinodular 3 11
799 c BLR017 Biliary Cirrhosis, Primary, 3 11
800 c CHR018 Chronic Salpingo-Oophoritis 11
801 IDP061 Idiopathic Congenital Hypothyroidism 11
802 c BDY014 Body Mass Index Quantitative Trait Locus 6 11
803 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
804 c BDY008 Body Mass Index Quantitative Trait Locus 2 11
805 HRD017 Hordeolum Externum 11
806 c BLR026 Biliary Cirrhosis, Primary, 5 10
807 GNT039 Genetic Transient Congenital Hypothyroidism 10
808 OVR039 Ovarian Mesodermal Adenosarcoma 10
809 c OVR119 Ovarian Dysgenesis 7 10
810 INT222 Intermediate Dend Syndrome 10
811 c BDY018 Body Mass Index Quantitative Trait Locus 15 10
812 c BDY016 Body Mass Index Quantitative Trait Locus 13 10
813 c SCN039 Secondary Central Precocious Puberty 10
814 P OVR052 Ovarian Endometrioid Adenofibroma 10
815 BRS039 Breast Fibroadenosis 9
816 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 9
817 OVR023 Ovary Rhabdomyosarcoma 9
818 c MYC054 Mycobacterium Tuberculosis 2 9
819 TST011 Testis Rhabdomyosarcoma 9
820 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9
821 MLT106 Multiple Paragangliomas Associated with Polycythemia 9
822 LNG018 Lingual Goiter 8
823 PNL015 Pineal Region Teratoma 8
824 PNL005 Pineal Region Immature Teratoma 8
825 c MLG040 Malignant Type Ab Thymoma 8
826 c MLG034 Malignant Type a Thymoma 8
827 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
828 OVR008 Ovarian Mucinous Cystadenofibroma 8
829 OVR031 Ovarian Papillary Cystadenoma 8
830 TST008 Testis Polyembryoma 8
831 TBR005 Tuberculous Oophoritis 8
832 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
833 P OVR053 Ovarian Mucinous Adenofibroma 7
834 c HYP653 Hypospadias 4, X-Linked 7
835 PNL004 Pineal Region Mature Teratoma 7
836 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
837 c MLG021 Malignant Sertoli-Leydig Cell Tumor 7
838 OVR032 Ovarian Surface Papilloma 7
839 CHL011 Childhood Immature Teratoma of Ovary 7
840 CHL063 Childhood Teratoma of the Ovary 7
841 CHL036 Childhood Mature Teratoma of the Ovary 7
842 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
843 c ACT031 Acute Salpingo-Oophoritis 7
844 c PRD024 Prader-Willi Syndrome Due to Translocation 6
845 PLY009 Polyembryoma of the Ovary 6
846 OVR019 Ovarian Malignant Mesothelioma 6
847 OVR038 Ovarian Fetiform Teratoma 6
848 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 6
849 c PRT125 Parotitis, Juvenile Recurrent 6
850 ABN002 Abnormality of Glucagon Secretion 6
851 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 6
852 RDL003 Riedel's Fibrosing Thyroiditis 5
853 PST024 Post-Surgical Hypoinsulinemia 5
854 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 5
855 OVR014 Ovarian Clear Cell Cystadenofibroma 5
856 OVR036 Ovarian Endometrioid Cystadenofibroma 5
857 OVR007 Ovarian Endometrioid Cystadenoma 5
858 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
859 MXD004 Mixed Eosinophil-Basophil Adenoma 5
860 PNL008 Pineal Dysgerminoma 5
861 SPR069 Sporadic Secreting Paraganglioma 5
862 IDN001 Iodine Hypothyroidism 5
863 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
864 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
865 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 4
866 THY021 Thyroid Malformation 4
867 THY002 Thyrocalcitonin Secretion Disease 4
868 MDL001 Medulloadrenal Hyperfunction 3
869 PDT046 Pediatric-Onset Graves Disease 3
870 NNS030 Non-Secreting Chemodectoma 3
871 P PNC035 Pancreatic Cancer 82
872 ADR054 Adrenocortical Carcinoma, Hereditary 73
873 PRT010 Parathyroid Carcinoma 64
874 PNC119 Pancreatic Neuroendocrine Tumor 47
875 c MCK032 Meckel Syndrome, Type 3 43
876 c MCK030 Meckel Syndrome, Type 7 37
877 c MCK033 Meckel Syndrome, Type 4 35
878 END035 Endocrine Gland Cancer 48
879 THY028 Thyroid Cancer 71
880 SPT006 Septooptic Dysplasia 54
881 P LFR001 Li-Fraumeni Syndrome 71
882 PNC033 Pancreas Adenocarcinoma 66
883 c LFR007 Li-Fraumeni Syndrome 2 48
884 PNL014 Pineal Gland Cancer 39
885 MLN047 Melanoma-Pancreatic Cancer Syndrome 28
886 SBC011 Sebaceous Adenocarcinoma 48
887 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
888 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 34
889 FML063 Familial Glucocorticoid Deficiency 41
890 PNC013 Pancreatic Ductal Carcinoma 47
891 GRD009 Gordon Holmes Syndrome 39
892 ANL012 Anal Gland Adenocarcinoma 27
893 BRT015 Bartholin's Gland Adenocarcinoma 10
894 c MLT156 Multiple Endocrine Neoplasia, Type I 72
895 c PTT056 Pituitary Adenoma 1, Multiple Types 52
896 P LYD011 Leydig Cell Hypoplasia 37
897 ACR007 Acromegaly 71
898 PND002 Pendred Syndrome 59
899 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54
900 ADR004 Adrenal Cortical Adenocarcinoma 48
901 APC004 Apocrine Adenocarcinoma 40
902 PTT048 Pituitary Adenoma, Prolactin-Secreting 62
903 PNC015 Pancreatic Acinar Cell Adenocarcinoma 34
904 PRT009 Parotid Gland Cancer 32
905 ACN026 Acinar Cell Carcinoma of Pancreas 26
906 c PNC095 Pancreatic Cancer 3 24
907 c PNC103 Pancreatic Cancer 4 20
908 c PNC111 Pancreatic Cancer 2 20
909 c PNC094 Pancreatic Cancer 1 13
910 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 50
911 PNC008 Pancreatic Endocrine Carcinoma 38
912 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 11
913 PNC051 Pancreatic Cancer, Childhood 5
914 SLD003 Sialadenitis 49
915 IMM064 Immunodeficiency, Common Variable, 10 34
916 GLN002 Glanders 30
917 PNC041 Pancreatic Ductal Adenocarcinoma 53
918 ULN003 Ulnar-Mammary Syndrome 50
919 LCR009 Lacrimal Gland Adenocarcinoma 22
920 YRF001 Yorifuji Okuno Syndrome 7
921 BRT003 Bartholin's Gland Small Cell Carcinoma 7
922 P HYP024 Hypoparathyroidism 54
923 PNC056 Pineocytoma 50
924 PTT008 Pituitary Carcinoma 49
925 GST051 Gastrointestinal Tuberculosis 31
926 ECC008 Eccrine Sweat Gland Neoplasm 31
927 c MLG048 Malignant Acrospiroma 25
928 P ACR049 Acrospiroma 22
929 TNG006 Tunglang Savage Bellman Syndrome 13
930 EMP001 Empty Sella Syndrome 46
931 HYP249 Hyperthyroidism, Nonautoimmune 31
932 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
933 INS001 Insulinoma 64
934 SHH001 Sheehan Syndrome 51
935 CLL036 Culler-Jones Syndrome 43
936 WDH001 Wdha Syndrome 35
937 ADR023 Adrenomyodystrophy 34
938 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
939 CYS014 Cystadenocarcinoma 52
940 P THY054 Thyrotoxic Periodic Paralysis 52
941 MCP006 Mucoepidermoid Carcinoma 52
942 DFF036 Differentiated Thyroid Carcinoma 51
943 TST015 Testicular Disease 49
944 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
945 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 47
946 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 46
947 CRT046 Corticosteroid-Binding Globulin Deficiency 45
948 MXD023 Mixed Cell Type Cancer 41
949 ANL011 Anal Canal Carcinoma 39
950 P FML156 Familial Hyperaldosteronism 37
951 MKL001 Mikulicz Disease 37
952 c THY084 Thyrotoxic Periodic Paralysis 1 33
953 ATM061 Autoimmune Polyglandular Syndrome Type 3 33
954 c THY083 Thyrotoxic Periodic Paralysis 2 31
955 APC005 Apocrine Sweat Gland Neoplasm 30
956 ACN007 Acinar Cell Cystadenocarcinoma 27
957 THY031 Thyroid Sarcoma 27
958 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 25
959 ECC001 Eccrine Papillary Adenocarcinoma 25
960 STR088 Stratton-Parker Syndrome 23
961 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 20
962 MCP007 Mucoepidermoid Thyroid Carcinoma 17
963 MLT005 Multicentric Papillary Thyroid Carcinoma 15
964 FRL002 Froelich Syndrome 14
965 c THY119 Thyrotoxic Periodic Paralysis 3 11
966 TLL001 Tall Cell Variant Papillary Carcinoma 10
967 CLM001 Columnar Cell Variant Papillary Carcinoma 9
968 PST034 Posterior Pituitary Gland Neoplasm 9
969 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
970 FRS005 Fraser Jequier Chen Syndrome 5
971 P BDY004 Body Mass Index Quantitative Trait Locus 11 78
972 P LVR013 Liver Disease 75
973 P HPT021 Hepatitis 75
974 P ADN016 Adenocarcinoma 70
975 P THY023 Thymoma 68
976 P DBT009 Diabetes Mellitus 67
977 OVR029 Ovarian Hyperstimulation Syndrome 65
978 HYP056 Hypoglycemia 63
979 ALC006 Alcoholic Hepatitis 63
980 c OVR114 Ovarian Cancer 1 62
981 P SHW006 Shwachman-Diamond Syndrome 1 62
982 P HYP724 Hyperlipoproteinemia, Type Iii 62
983 ECT006 Ectodermal Dysplasia 61
984 c ACT027 Acute Pancreatitis 61
985 DBT084 Diabetes Mellitus, Ketosis-Prone 60
986 c VRL010 Viral Hepatitis 60
987 P MTR004 Maturity-Onset Diabetes of the Young 60
988 P NPH012 Nephrotic Syndrome 59
989 DNH001 Donohue Syndrome 59
990 SMT008 Smith-Magenis Syndrome 58
991 HYP730 Hypogonadotropic Hypogonadism 58
992 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
993 ADN009 Adenosquamous Carcinoma 55
994 c MYT020 Myotonic Dystrophy 2 55
995 HMZ003 Homozygous Familial Hypercholesterolemia 55
996 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 54
997 ALV002 Alveolar Echinococcosis 54
998 P VND007 Van Der Woude Syndrome 1 54
999 P PRM006 Primary Biliary Cirrhosis 53
1000 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
1001 P ACQ022 Acquired Generalized Lipodystrophy 53
1002 ALC009 Alcoholic Liver Cirrhosis 53
1003 VTM027 Vitamin D-Dependent Rickets, Type 2a 53
1004 HYP732 Hyperalphalipoproteinemia 1 53
1005 c ACT134 Acute Liver Failure 53
1006 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 52
1007 MNN042 Meningioma, Radiation-Induced 52
1008 SCN001 Secondary Hyperparathyroidism of Renal Origin 52
1009 c BRD012 Bardet-Biedl Syndrome 11 52
1010 c NPH055 Nephrotic Syndrome, Type 1 51
1011 P HMG032 Hemoglobin H Disease 51
1012 GLC036 Glucagonoma 51
1013 ONC007 Oncocytoma 51
1014 P PSD015 Pseudohypoparathyroidism 50
1015 FSH001 Fish-Eye Disease 50
1016 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1017 P GND004 Gonadal Dysgenesis 50
1018 OVR059 Ovary Adenocarcinoma 50
1019 c HYP740 Hyperlipoproteinemia, Type V 49
1020 c HYP739 Hyperlipoproteinemia, Type Iv 49
1021 OVR012 Ovarian Serous Cystadenocarcinoma 49
1022 TST044 Testicular Torsion 48
1023 GLC106 Glucocorticoid Resistance, Generalized 47
1024 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
1025 c HLP023 Holoprosencephaly 1 47
1026 P OVR106 Ovarian Clear Cell Carcinoma 47
1027 THY009 Thyroid Lymphoma 47
1028 P HRD018 Hair Disease 46
1029 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 46
1030 P LYD001 Leydig Cell Tumor 46
1031 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 45
1032 OVR060 Ovary Epithelial Cancer 45
1033 DWR001 Dwarfism 45
1034 c BRD011 Bardet-Biedl Syndrome 10 45
1035 c RCR022 Recurrent Acute Pancreatitis 44
1036 GST030 Gastrinoma 44
1037 c HYP768 Hyperlipoproteinemia, Type I 44
1038 c BRD020 Bardet-Biedl Syndrome 8 44
1039 P PRC038 Precocious Puberty, Male-Limited 44
1040 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 44
1041 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
1042 LPT006 Leptin Receptor Deficiency 43
1043 OST004 Osteitis Fibrosa 42
1044 c BDY019 Body Mass Index Quantitative Trait Locus 18 42
1045 HPT067 Hepatocellular Adenoma 42
1046 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 42
1047 46X012 46,xy Partial Gonadal Dysgenesis 42
1048 c LPD019 Lipodystrophy, Partial, Acquired 42
1049 HPT008 Hepatic Tuberculosis 42
1050 DRG002 Drug-Induced Hepatitis 41
1051 c BDY020 Body Mass Index Quantitative Trait Locus 19 41
1052 c BRD018 Bardet-Biedl Syndrome 6 41
1053 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
1054 c FML297 Familial Thyroid Dyshormonogenesis 41
1055 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
1056 HRT040 Hirata Disease 41
1057 c BRD017 Bardet-Biedl Syndrome 5 40
1058 TRP009 Triple X Syndrome 40
1059 c NPH049 Nephrotic Syndrome, Type 2 40
1060 c BDY011 Body Mass Index Quantitative Trait Locus 10 40
1061 LPT014 Leptin Deficiency or Dysfunction 40
1062 c ADN012 Adenocarcinoma in Situ 40
1063 HYP610 Hypothyroidism, Central, and Testicular Enlargement 40
1064 OVR105 Ovarian Serous Carcinoma 39
1065 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
1066 LCT003 Lactocele 39
1067 RTN072 Retinohepatoendocrinologic Syndrome 39
1068 c HYP243 Hyperparathyroidism 1 39
1069 WRT003 Warthin Tumor 39
1070 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 38
1071 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 38
1072 c GLY044 Glycogen Storage Disease Ixc 38
1073 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 37
1074 OVR034 Ovarian Clear Cell Adenocarcinoma 37
1075 LCL022 Localized Lipodystrophy 37
1076 CRT020 Cortisone Reductase Deficiency 37
1077 OVR054 Ovarian Mucinous Neoplasm 37
1078 OVR104 Ovarian Melanoma 37
1079 P SRT003 Sertoli-Leydig Cell Tumor 37
1080 CHR075 Choriocarcinoma of Ovary 37
1081 END002 Endometrioid Ovary Carcinoma 37
1082 c GLY016 Glycogen Storage Disease Ib 36
1083 BSM002 Bosma Arhinia Microphthalmia Syndrome 36
1084 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1085 HMN004 Hemangioma of Liver 36
1086 c SRC023 Sarcoidosis 2 36
1087 c FML294 Familial Short Qt Syndrome 35
1088 SCH071 Schaaf-Yang Syndrome 35
1089 HPT081 Hepatic Infarction 35
1090 PRG123 Progeroid Syndrome, Neonatal 35
1091 TMP012 Temple Syndrome 35
1092 c FML157 Familial Male-Limited Precocious Puberty 35
1093 P MXD016 Mixed Gonadal Dysgenesis 35
1094 TST020 Testis Seminoma 35
1095 49X002 49,xxxxy Syndrome 35
1096 c NPH054 Nephrotic Syndrome, Type 3 34
1097 LMB008 Limb-Mammary Syndrome 34
1098 THY108 Thymic Neuroendocrine Tumor 34
1099 c INV003 Invasive Malignant Thymoma 34
1100 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 34
1101 c MLG072 Malignant Leydig Cell Tumor 34
1102 OVR047 Ovarian Cystadenocarcinoma 33
1103 48X003 48,xxyy Syndrome 33
1104 OVR013 Ovarian Mucinous Cystadenocarcinoma 33
1105 c BDY005 Body Mass Index Quantitative Trait Locus 9 33
1106 CHR525 Chromosome Xq26.3 Duplication Syndrome 33
1107 c BDY015 Body Mass Index Quantitative Trait Locus 12 32
1108 P HRD022 Hordeolum 32
1109 c LSS037 Lissencephaly, X-Linked, 2 32
1110 TST007 Testicular Infarct 32
1111 c KNN009 Kenny-Caffey Syndrome, Type 1 32
1112 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 32
1113 END036 Endocrine Organ Benign Neoplasm 31
1114 PTT016 Patterson Pseudoleprechaunism Syndrome 31
1115 c BDY010 Body Mass Index Quantitative Trait Locus 4 31
1116 THY024 Thymus Adenocarcinoma 31
1117 BRN137 Bronchial Neuroendocrine Tumor 31
1118 FTL005 Fetal Adenoma 31
1119 c BDY006 Body Mass Index Quantitative Trait Locus 8 31
1120 c BDY012 Body Mass Index Quantitative Trait Locus 7 31
1121 c CNT101 Central Congenital Hypothyroidism 31
1122 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 31
1123 c BRD019 Bardet-Biedl Syndrome 7 30
1124 NTM001 Nutmeg Liver 30
1125 FXF002 Fox-Fordyce Disease 30
1126 OVR021 Ovarian Lymphoma 30
1127 c ALG016 Alagille Syndrome 2 30
1128 PRD001 Predominantly Cortical Thymoma 30
1129 MXD014 Mixed Ductal-Endocrine Carcinoma 30
1130 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 30
1131 MCH011 Meacham Syndrome 29
1132 PRP098 Proprotein Convertase 1/3 Deficiency 29
1133 c GLY043 Glycogen Storage Disease Xii 29
1134 LVR004 Liver Inflammatory Pseudotumor 29
1135 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 29
1136 BCH003 Boucher-Neuhauser Syndrome 29
1137 c GLY097 Glycogen Storage Disease Ixb 29
1138 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
1139 MLL011 Mullerian Aplasia and Hyperandrogenism 28
1140 P TST016 Testicular Granulosa Cell Tumor 28
1141 c GLY009 Glycogen Storage Disease Xv 28
1142 EPT007 Epithelial Malignant Thymoma 28
1143 c NPH047 Nephrotic Syndrome, Type 4 28
1144 SPR018 Spermatocytoma 28
1145 OVR011 Ovarian Mucinous Adenocarcinoma 28
1146 c MCR245 Microphthalmia, Syndromic 8 28
1147 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
1148 LVR005 Liver Leiomyoma 27
1149 PGD001 Pagod Syndrome 26
1150 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 26
1151 c MCR252 Microphthalmia, Syndromic 5 26
1152 c BRD021 Bardet-Biedl Syndrome 9 26
1153 c HYP311 Hyperparathyroidism 3 26
1154 TTR013 Tetrasomy X 26
1155 c LPD036 Lipodystrophy, Familial Partial, Type 6 26
1156 OVR015 Ovarian Mixed Germ Cell Neoplasm 25
1157 TST010 Testicular Spermatocytic Seminoma 25
1158 c MCR212 Microphthalmia, Syndromic 12 25
1159 c HMG004 Hemoglobin D Disease 25
1160 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
1161 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
1162 OVR027 Ovarian Squamous Cell Carcinoma 25
1163 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
1164 c PSD047 Pseudo-Turner Syndrome 25
1165 ANS010 Anus Adenocarcinoma 24
1166 HYP344 Hyperthyroidism, Familial Gestational 24
1167 OVR061 Ovary Sarcoma 24
1168 GGN004 Gigantomastia 24
1169 GNT043 Genitopalatocardiac Syndrome 24
1170 OVR062 Ovary Serous Adenocarcinoma 24
1171 48X002 48,xxxy Syndrome 24
1172 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23
1173 c OVR041 Ovarian Benign Neoplasm 23
1174 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 23
1175 INS009 Insulin-Resistance Type B 23
1176 GRW032 Growth Factors, Combined Defect of 22
1177 c PRR024 Perrault Syndrome 3 22
1178 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1179 c NPH073 Nephrotic Syndrome, Type 8 22
1180 ADL056 Adult Pineal Parenchymal Tumor 22
1181 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
1182 LYM123 Lymphedema-Hypoparathyroidism Syndrome 22
1183 c HYP708 Hyperaldosteronism, Familial, Type Iv 22
1184 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 21
1185 c NPH074 Nephrotic Syndrome, Type 9 21
1186 BNG086 Bangstad Syndrome 21
1187 GLC043 Glucocorticoid Deficiency 2 21
1188 c SHW007 Shwachman-Diamond Syndrome 2 21
1189 TST005 Testicular Gonadoblastoma 21
1190 NNG002 Non-Gestational Ovarian Choriocarcinoma 20
1191 c NPH103 Nephrotic Syndrome, Type 15 20
1192 EPD017 Epididymis Cancer 20
1193 MTC025 Mitochondrial Myopathy with Diabetes 20
1194 c VND004 Van Der Woude Syndrome 2 20
1195 c NPH096 Nephrotic Syndrome, Type 12 20
1196 MXD007 Mixed Hepatoblastoma 20
1197 c NPH095 Nephrotic Syndrome, Type 11 20
1198 LVR010 Liver Leiomyosarcoma 19
1199 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
1200 SBC005 Subacute Lymphocytic Thyroiditis 19
1201 TST035 Testicular Anomalies with or Without Congenital Heart Disease 19
1202 PNL009 Pineal Region Choriocarcinoma 19
1203 TST040 Testicular Trophoblastic Tumor 19
1204 c NPH104 Nephrotic Syndrome, Type 16 18
1205 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1206 c ACQ034 Acquired Central Diabetes Insipidus 18
1207 c NPH076 Nephrotic Syndrome, Type 10 18
1208 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
1209 THY006 Thymus Lymphoma 18
1210 c HRD156 Hereditary Central Diabetes Insipidus 18
1211 c HRN019 Hair-an Syndrome 17
1212 PNL021 Pineal Cyst 17
1213 PPL015 Papillary Thymic Adenocarcinoma 17
1214 PNB003 Pineoblastoma, Childhood 17
1215 c NPH093 Nephrotic Syndrome, Type 13 17
1216 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
1217 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
1218 XLN112 X-Linked Intellectual Disability, Cilliers Type 15
1219 OVR040 Ovarian Clear Cell Cystadenocarcinoma 15
1220 BMF002 Bamforth Syndrome 15
1221 THY017 Thymus Sarcomatoid Carcinoma 15
1222 LVR009 Liver Rhabdomyosarcoma 15
1223 PDT022 Pediatric Ovarian Germ Cell Tumor 15
1224 LVR001 Liver Lipoma 14
1225 c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14
1226 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1227 c ATM063 Autoimmune Pancreatitis Type 2 14
1228 THY010 Thymus Mucoepidermoid Carcinoma 14
1229 TST012 Testicular Fibroma 14
1230 PTT039 Pituitary Dermoid and Epidermoid Cysts 14
1231 c INT047 Internal Hordeolum 14
1232 TST019 Testis Sarcoma 14
1233 NRN032 Neuroendocrine Tumor of Anal Canal 14
1234 GLL034 Gallbladder Neuroendocrine Tumor 14
1235 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1236 NNN002 Noninvasive Malignant Thymoma 13
1237 GST035 Gestational Ovarian Choriocarcinoma 13
1238 MLG035 Malignant Ovarian Mixed Epithelial Neoplasm 13
1239 INF124 Infundibulo-Neurohypophysitis 13
1240 OVR026 Ovary Transitional Cell Carcinoma 13
1241 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
1242 THY011 Thymus Basaloid Carcinoma 12
1243 OBS060 Obesity Due to Sim1 Deficiency 12
1244 OVR033 Ovary Papillary Carcinoma 12
1245 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
1246 c THY018 Thymus Clear Cell Carcinoma 11
1247 c KLL008 Kallmann Syndrome 6 11
1248 HYP053 Hypercalcemic Type Ovarian Small Cell Carcinoma 11
1249 PPL010 Papillary Follicular Thyroid Adenocarcinoma 10
1250 c THY008 Thymus Small Cell Carcinoma 10
1251 BSP005 Basophilic Adenocarcinoma 10
1252 MYT025 Myotubular Myopathy with Abnormal Genital Development 10
1253 c KLL005 Kallmann Syndrome 3 10
1254 c KLL006 Kallmann Syndrome 4 10
1255 OVR055 Ovarian Papillary Neoplasm 10
1256 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 10
1257 OVR016 Ovarian Endometrioid Stromal Sarcoma 9
1258 THY012 Thymus Adenosquamous Carcinoma 9
1259 MLG017 Malignant Tumor of Undescended Testis 9
1260 CHL008 Childhood Ovarian Endodermal Sinus Tumor 9
1261 c KLL007 Kallmann Syndrome 5 9
1262 ANL010 Anal Neuroendocrine Tumor 9
1263 c PRS050 Prss1-Related Hereditary Pancreatitis 8
1264 CHL038 Childhood Choriocarcinoma of the Ovary 8
1265 PNL010 Pineal Region Yolk Sac Tumor 8
1266 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
1267 TST013 Testicular Thecoma 8
1268 OVR020 Ovarian Wilms' Cancer 8
1269 PRP104 Prepubertal Anorexia Nervosa 8
1270 MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 8
1271 c ADL043 Adult Type Testicular Granulosa Cell Tumor 8
1272 LVR008 Liver Fibrosarcoma 7
1273 NNN001 Nonencapsulated Sclerosing Carcinoma 7
1274 c ADL036 Adult Central Nervous System Germinoma 7
1275 LVR007 Liver Fibroma 7
1276 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 7
1277 RTV002 Rete Ovarii Adenocarcinoma 7
1278 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1279 IDN004 Iodine Antenatal Exposure 7
1280 OVR022 Ovary Mixed Epithelial Carcinoma 7
1281 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 7
1282 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1283 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1284 MCR005 Macrotrabecular Hepatoblastoma 6
1285 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 6
1286 TST002 Testicular Brenner Tumor 6
1287 NRH002 Neurohypophysis Granular Cell Tumor 6
1288 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 6
1289 TRB001 Trabecular Follicular Adenocarcinoma 6
1290 GST003 Gastrin Secretion Abnormality 6
1291 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 6
1292 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 6
1293 PSD013 Pseudoglandular Variant Testicular Seminoma 6
1294 TBL005 Tubular Variant Testicular Seminoma 6
1295 P SYC001 Say Carpenter Syndrome 6
1296 SLD001 Solid Pattern Testicular Yolk Sac Tumor 6
1297 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 6
1298 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
1299 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 6
1300 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 6
1301 CRB003 Cribriform Variant Testicular Seminoma 6
1302 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1303 TST041 Testicular Germ Cell Tumor Non-Seminomatous 5
1304 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 5
1305 TST042 Testicular Pure Germ Cell Tumor 5
1306 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 5
1307 NNR001 Non-Renal Secondary Hyperparathyroidism 5
1308 FML019 Familiar Ovarian Carcinoma 5
1309 c FRG005 Fragile X Syndrome Type 2 5
1310 c FRG004 Fragile X Syndrome Type 1 5
1311 c FRG006 Fragile X Syndrome Type 3 5
1312 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
1313 HYP175 Hyper-Reninism 4
1314 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
1315 c PRT053 Portal Hypertension Due to Infrahepatic Block 3
1316 SMT003 Somatostatinoma 52
1317 ADN011 Adenoid Cystic Carcinoma 66
1318 VPM001 Vipoma 48
1319 P THY102 Thyroid Cancer, Nonmedullary, 2 61
1320 ZLL002 Zollinger-Ellison Syndrome 59
1321 c HYP731 Hyperaldosteronism, Familial, Type I 58
1322 NRN004 Neuroendocrine Tumor 56
1323 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
1324 c THY100 Thyroid Cancer, Nonmedullary, 4 16
1325 c THY101 Thyroid Cancer, Nonmedullary, 5 16
1326 c THY117 Thyroid Cancer, Nonmedullary, 3 14
1327 HSH003 Hashimoto Thyroiditis 65
1328 ALB001 Albright's Hereditary Osteodystrophy 53
1329 PSD014 Pseudopseudohypoparathyroidism 51
1330 c HYP600 Hyperaldosteronism, Familial, Type Ii 31
1331 P HYP802 Hypocalcemia, Autosomal Dominant 1 67
1332 ARM001 Aromatase Deficiency 52
1333 HDR006 Hidradenocarcinoma 46
1334 IMM177 Immunodeficiency 54 23
1335 FML075 Familial Isolated Hyperparathyroidism 46
1336 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
1337 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 44
1338 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1339 SPT019 Septo-Optic Dysplasia Spectrum 34
1340 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 67
1341 CRN036 Craniopharyngioma 66
1342 c MLT160 Multiple Endocrine Neoplasia, Type Iia 66
1343 AND002 Androgen Insensitivity Syndrome 65
1344 c PRM005 Primary Hyperparathyroidism 60
1345 P MLT074 Multiple Endocrine Neoplasia 57
1346 c LPD015 Lipodystrophy, Familial Partial, Type 2 56
1347 P 46X052 46,xx Sex Reversal 1 52
1348 P FML012 Familial Partial Lipodystrophy 52
1349 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
1350 NLS001 Nelson Syndrome 50
1351 ADR038 Adermatoglyphia 47
1352 c LPD040 Lipodystrophy, Familial Partial, Type 1 44
1353 P HYP599 Hypoparathyroidism, Familial Isolated 40
1354 WTK002 Witkop Syndrome 35
1355 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 34
1356 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
1357 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
1358 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 21
1359 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 15
1360 SCK003 Sickle Cell Anemia 72
1361 c MYT021 Myotonic Dystrophy 1 70
1362 P CNG411 Congenital Disorder of Glycosylation, Type in 66
1363 PRT036 Peritonitis 66
1364 GLC006 Galactosemia 66
1365 P HLP001 Holoprosencephaly 66
1366 P BRD002 Bardet-Biedl Syndrome 64
1367 PLL001 Pallister-Hall Syndrome 64
1368 ANP031 Anaplastic Thyroid Cancer 64
1369 P PNC044 Pancreatitis 63
1370 P PRD006 Prader-Willi Syndrome 63
1371 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 63
1372 DBT083 Diabetes Mellitus, Permanent Neonatal 62
1373 CLS005 Clouston Syndrome 62
1374 DGR001 Digeorge Syndrome 62
1375 c BRD014 Bardet-Biedl Syndrome 2 61
1376 c GLY060 Glycogen Storage Disease Ia 61
1377 HYP190 Hypoalphalipoproteinemia, Primary 60
1378 c ALP101 Alpha-Thalassemia 60
1379 c BRD010 Bardet-Biedl Syndrome 1 59
1380 P SHR029 Short Syndrome 59
1381 c HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59
1382 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 58
1383 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 57
1384 c INF145 Infantile Liver Failure Syndrome 1 57
1385 c PSD108 Pseudohypoparathyroidism, Type Ia 56
1386 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
1387 c HPT007 Hepatitis E 56
1388 HPT022 Hepatoblastoma 56
1389 APP015 Apparent Mineralocorticoid Excess 55
1390 c GLY004 Glycogen Storage Disease V 55
1391 DNY001 Denys-Drash Syndrome 54
1392 RNL051 Renal Cysts and Diabetes Syndrome 54
1393 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
1394 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
1395 PSD021 Pseudovaginal Perineoscrotal Hypospadias 54
1396 P PRC019 Precocious Puberty 52
1397 END031 Endometrial Stromal Sarcoma 52
1398 c HPT015 Hepatitis D 52
1399 HPT025 Hepatic Lipase Deficiency 52
1400 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 52
1401 RPP001 Rapp-Hodgkin Syndrome 52
1402 P MYT002 Myotonic Dystrophy 51
1403 OPS006 Opsoclonus-Myoclonus Syndrome 51
1404 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
1405 c RBN021 Rubinstein-Taybi Syndrome 1 51
1406 c GLY011 Glycogen Storage Disease Vii 51
1407 CRC014 Carcinoid Tumors, Intestinal 51
1408 PRT018 Portal Vein Thrombosis 50
1409 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
1410 c GLY005 Glycogen Storage Disease Vi 49
1411 LVR002 Liver Angiosarcoma 49
1412 c ADL096 Adult Hepatocellular Carcinoma 48
1413 CYS008 Cystic Echinococcosis 48
1414 CMP034 Complete Androgen Insensitivity Syndrome 48
1415 c MCR256 Microphthalmia, Syndromic 9 48
1416 CLN003 Clonorchiasis 48
1417 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 48
1418 P PRS049 Persistent Mullerian Duct Syndrome 47
1419 c BRD016 Bardet-Biedl Syndrome 4 47
1420 MYP001 Myoepithelioma 47
1421 P LSS036 Lissencephaly, X-Linked, 1 47
1422 PTT041 Pituitary Stalk Interruption Syndrome 47
1423 c 46X001 46 Xy Gonadal Dysgenesis 46
1424 ONC003 Oncogenic Osteomalacia 46
1425 CRN055 Carney Triad 46
1426 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
1427 SXC001 Sex Cord-Gonadal Stromal Tumor 46
1428 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 46
1429 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
1430 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 45
1431 CHN054 Chondrodysplasia, Blomstrand Type 45
1432 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 45
1433 P HRD086 Hereditary Hypophosphatemic Rickets 44
1434 OVR112 Ovarian Germ Cell Cancer 44
1435 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 43
1436 FML091 Familial Tumoral Calcinosis 43
1437 PRG008 Paragonimiasis 43
1438 c HMG003 Hemoglobin E Disease 42
1439 OVR050 Ovarian Embryonal Carcinoma 42
1440 ARC007 Arachnoid Cysts 42
1441 c HMG001 Hemoglobin C Disease 42
1442 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 42
1443 PGT003 Paget Disease, Extramammary 42
1444 HYP776 Hyperparathyroidism, Neonatal Severe 42
1445 c FML015 Familial Nephrotic Syndrome 41
1446 P TST026 Testicular Germ Cell Cancer 40
1447 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 40
1448 LRN001 Laurence-Moon Syndrome 40
1449 ARM004 Aromatase Excess Syndrome 40
1450 HPT020 Hepatic Vascular Disease 39
1451 TST004 Testicular Lymphoma 39
1452 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1453 GBL002 Goblet Cell Carcinoid 38
1454 APL017 Apolipoprotein C-Ii Deficiency 38
1455 c OVR058 Ovarian Small Cell Carcinoma 38
1456 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
1457 LYM043 Lymphocytic Hypophysitis 38
1458 ANR018 Anorchia 38
1459 PLS002 Peliosis Hepatis 37
1460 LVR014 Liver Sarcoma 37
1461 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 36
1462 c NPH070 Nephrotic Syndrome, Type 6 36
1463 c WLF009 Wolfram Syndrome 2 36
1464 P PRR025 Perrault Syndrome 36
1465 P CNT037 Central Nervous System Germinoma 35
1466 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 35
1467 DNC004 Diencephalic Syndrome 35
1468 DDN002 Duodenal Gastrinoma 35
1469 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 35
1470 OVR044 Ovarian Carcinosarcoma 35
1471 TST003 Testicular Leukemia 34
1472 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 34
1473 c 46X055 46,xy Sex Reversal 3 34
1474 c PRR020 Perrault Syndrome 1 33
1475 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1476 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 33
1477 P TST001 Testicular Leydig Cell Tumor 32
1478 KRK001 Krukenberg Carcinoma 32
1479 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
1480 STY001 Satoyoshi Syndrome 32
1481 5LP001 5-Alpha Reductase Deficiency 30
1482 c KNN007 Kenny-Caffey Syndrome, Type 2 30
1483 NST002 Nestor-Guillermo Progeria Syndrome 29
1484 c NPH072 Nephrotic Syndrome, Type 7 29
1485 P HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 29
1486 CRT039 Corticosterone Methyloxidase Type I Deficiency 29
1487 OPT032 Optic Pathway Glioma 29
1488 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
1489 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28
1490 c PRG020 Paragangliomas 3 28
1491 c LVR030 Liver Failure, Infantile, Transient 27
1492 c PRG021 Paragangliomas 4 27
1493 SCL007 Sclerosing Hepatic Carcinoma 27
1494 c 46X049 46,xy Sex Reversal 2 27
1495 MLG078 Malignant Pineal Area Germ Cell Neoplasm 26
1496 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
1497 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 26
1498 HMT001 Hematocele of Tunica Vaginalis Testis 26
1499 THY096 Thyroid Carcinoma, Hurthle Cell 25
1500 RCT005 Rectum Neuroendocrine Neoplasm 25
1501 ARD001 Aredyld 25
1502 c HMG029 Hemoglobin Se Disease 25
1503 LVR006 Liver Lymphoma 25
1504 FTL062 Fetal Iodine Deficiency Disorder 25
1505 URC004 Urachal Cancer 25
1506 DFN313 Deafness-Hypogonadism Syndrome 24
1507 c PRG019 Paragangliomas 2 24
1508 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 24
1509 HYP683 Hypogonadism-Cataract Syndrome 23
1510 c GLY059 Glycogen Storage Disease Xiii 23
1511 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 23
1512 ILL008 Ileal Neuroendocrine Tumor 22
1513 WBB001 Webb-Dattani Syndrome 22
1514 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1515 c INF138 Infantile Liver Failure Syndrome 2 22
1516 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
1517 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 21
1518 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 21
1519 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 21
1520 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 20
1521 c GLY006 Glycogen Storage Disease Viii 20
1522 THY106 Thyroglossal Duct Cyst, Familial 20
1523 MRB006 Morbid Obesity and Spermatogenic Failure 20
1524 c MCR312 Microphthalmia, Syndromic 10 20
1525 OVR004 Ovary Neuroendocrine Neoplasm 19
1526 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
1527 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 18
1528 NRN045 Neuroendocrine Neoplasm of Appendix 18
1529 c TST017 Testicular Malignant Germ Cell Cancer 17
1530 THY027 Thymus Squamous Cell Carcinoma 17
1531 INT252 Intestinal Neuroendocrine Benign Tumor 17
1532 HYD021 Hydrocephalus Obesity Hypogonadism 17
1533 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1534 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
1535 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
1536 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
1537 NRC007 Neuroectodermal Endocrine Syndrome 15
1538 HPT011 Hepatocellular Clear Cell Carcinoma 13
1539 THY092 Thymic Neuroendocrine Carcinoma 13
1540 P THY005 Thymus Large Cell Carcinoma 13
1541 MDD017 Middle Ear Neuroendocrine Tumor 11
1542 PRS017 Prostate Neuroendocrine Neoplasm 10
1543 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 10
1544 LVR003 Liver Carcinoma in Situ 10
1545 PDT023 Pediatric Testicular Germ Cell Tumor 10
1546 CHL026 Childhood Ovarian Embryonal Carcinoma 9
1547 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
1548 TST009 Testis Refractory Cancer 7
1549 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1550 CHL064 Childhood Testicular Mixed Germ Cell Tumor 7
1551 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 6
1552 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 6
1553 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1554 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1555 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1556 c OVR071 Ovarian Insufficiency, Familial 4
1557 DYS002 Dysplastic Nevus Syndrome 36
1558 c THY109 Thyroid Cancer, Nonmedullary, 1 58
1559 MCC012 Mccune-Albright Syndrome 66
1560 THY111 Thyroid Carcinoma, Familial Medullary 70
1561 c PRG018 Paragangliomas 1 55
1562 P BRS047 Breast Cancer 100
1563 c INF023 Inflammatory Breast Carcinoma 57
1564 c BRS049 Breast Carcinoma in Situ 56
1565 c SPR009 Sporadic Breast Cancer 50
1566 CYL004 Cylindromatosis, Familial 32
1567 c BRS046 Breast Benign Neoplasm 30
1568 P HPT023 Hepatocellular Carcinoma 98
1569 P OVR042 Ovarian Cancer 83
1570 P LNG064 Lung Cancer Susceptibility 3 79
1571 P MYC084 Mycobacterium Tuberculosis 1 74
1572 c BTT014 Beta-Thalassemia 71
1573 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 70
1574 WLS001 Wilson Disease 70
1575 ABT001 Abetalipoproteinemia 67
1576 c PNC108 Pancreatitis, Hereditary 65
1577 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65
1578 STF001 Stiff-Person Syndrome 65
1579 HYP020 Hyperprolactinemia 64
1580 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1581 CHR072 Chordoma 64
1582 DBT087 Diabetes Insipidus, Neurohypophyseal 62
1583 CRC006 Carcinoid Syndrome 61
1584 MRK001 Merkel Cell Carcinoma 60
1585 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
1586 c GLY003 Glycogen Storage Disease Iii 59
1587 THY025 Thymus Cancer 58
1588 c GST103 Gastric Cancer, Hereditary Diffuse 58
1589 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 57
1590 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 56
1591 FRS002 Frasier Syndrome 55
1592 ALS001 Alstrom Syndrome 55
1593 FBR086 Fibrolamellar Carcinoma 55
1594 CHY002 Chylomicron Retention Disease 55
1595 TST014 Testicular Cancer 54
1596 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53
1597 c PSD066 Pseudohypoparathyroidism, Type Ib 53
1598 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
1599 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
1600 GLY014 Glycerol Kinase Deficiency 51
1601 HPT014 Hepatorenal Syndrome 50
1602 PRG017 Paraganglioma and Gastric Stromal Sarcoma 49
1603 c BRD013 Bardet-Biedl Syndrome 12 49
1604 P FML068 Familial Hypocalciuric Hypercalcemia 48
1605 IGG007 Igg4-Related Disease 47
1606 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
1607 GST004 Gastric Neuroendocrine Neoplasm 46
1608 TST018 Testicular Yolk Sac Tumor 46
1609 BRK001 Brooke-Spiegler Syndrome 46
1610 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 45
1611 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 45
1612 c TYR013 Tyrosinemia, Type Ii 45
1613 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 45
1614 OPS001 Opisthorchiasis 44
1615 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1616 P DFF019 Diffuse Gastric Cancer 43
1617 MRT007 Martsolf Syndrome 42
1618 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 42
1619 P MCR241 Microphthalmia, Syndromic 3 41
1620 c MCR261 Microphthalmia, Syndromic 2 41
1621 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 41
1622 TXC011 Toxocariasis 39
1623 P PHS005 Peho Syndrome 38
1624 HYP737 Hyperhidrosis, Gustatory 38
1625 EMB006 Embryonal Testis Carcinoma 36
1626 APP009 Appendix Adenocarcinoma 36
1627 c SML009 Small Intestine Adenocarcinoma 36
1628 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
1629 ECC004 Eccrine Porocarcinoma 35
1630 PRM205 Primary Hepatic Neuroendocrine Carcinoma 35
1631 TST033 Testicular Regression Syndrome 33
1632 CHP002 Chops Syndrome 33
1633 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
1634 MHM001 Mehmo Syndrome 31
1635 P LRG016 Large Intestine Adenocarcinoma 30
1636 IMM179 Immunodeficiency 31c 30
1637 INT041 Intratubular Embryonal Carcinoma 28
1638 P FML168 Familial Isolated Pituitary Adenoma 28
1639 c LNG109 Lung Cancer Susceptibility 1 26
1640 c PHL010 Peho-Like Syndrome 26
1641 c MCR262 Microphthalmia, Syndromic 4 23
1642 SML004 Small Intestine Neuroendocrine Neoplasm 22
1643 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 20
1644 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 19
1645 NRN033 Neuroendocrine Tumor of the Colon 19
1646 LRY013 Laryngeal Neuroendocrine Tumor 17
1647 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1648 DGS008 Digestive System Melanoma 12
1649 CLN014 Colon Neuroendocrine Neoplasm 11
1650 c LNG086 Lung Cancer Susceptibility 5 11
1651 c LNG065 Lung Cancer Susceptibility 4 10
1652 HPT017 Hepatic Osteogenic Sarcoma 10
1653 CHL043 Childhood Embryonal Testis Carcinoma 9
1654 CHL048 Childhood Teratocarcinoma of the Testis 8
1655 INS024 Insulin-Like Growth Factor I 76
1656 c HPT003 Hepatitis a 67
1657 CMP005 Campomelic Dysplasia 65
1658 P KLL001 Kallmann Syndrome 64
1659 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 62
1660 BDD001 Budd-Chiari Syndrome 61
1661 KRN002 Kearns-Sayre Syndrome 61
1662 P INT099 Intrahepatic Cholestasis of Pregnancy 60
1663 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 60
1664 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 55
1665 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1666 AND020 Androgen Insensitivity, Partial 53
1667 c GLY007 Glycogen Storage Disease Iv 53
1668 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
1669 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1670 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
1671 c BRD015 Bardet-Biedl Syndrome 3 43
1672 SML031 Small Cell Carcinoma of the Bladder 38
1673 c PSD117 Pseudohypoparathyroidism, Type Ic 37
1674 c MCR251 Microphthalmia, Syndromic 6 32
1675 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
1676 MMS001 Momo Syndrome 30
1677 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 26
1678 DTH005 Diethylstilbestrol Syndrome 26
1679 CHR506 Choroideremia, Deafness, and Mental Retardation 24
1680 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1681 P RBN007 Rubinstein Taybi Like Syndrome 9
1682 c TYR012 Tyrosinemia, Type I 54
1683 c THY085 Thymoma Type a 16
1684 c THY086 Thymoma Type B 14
1685 c THY087 Thymoma Type Ab 13
1686 c HPT073 Hepatitis C Virus 67
1687 c ATM011 Autoimmune Hepatitis 61
1688 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1689 c THY107 Thymoma, Familial 48



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