Endocrine Diseases Category (1758 diseases)


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

# Family MCID Name MIFTS
1 ISL014 Isolated Growth Hormone Deficiency, Type Ia 58
2 LPD012 Lipoid Congenital Adrenal Hyperplasia 72
3 ADR005 Adrenal Carcinoma 59
4 ADR049 Adrenal Hypoplasia, Congenital 48
5 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 54
6 ISL003 Isolated Growth Hormone Deficiency 53
7 c PNC108 Pancreatitis, Hereditary 61
8 ADR008 Adrenal Adenoma 51
9 ISL114 Isolated Growth Hormone Deficiency, Type Ii 46
10 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 35
11 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 39
12 PNC120 Pancreas, Dorsal, Agenesis of 23
13 c LYD012 Leydig Cell Hypoplasia, Type I 32
14 ISL125 Isolated Growth Hormone Deficiency Type Iii 27
15 P PHC003 Pheochromocytoma 73
16 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52
17 c SPR094 Sporadic Pheochromocytoma 35
18 CNN003 Conn's Syndrome 73
19 HYP780 Hypoadrenocorticism, Familial 64
20 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 55
21 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 40
22 PTT044 Pituitary Hormone Deficiency, Combined, 4 28
23 PTT047 Pituitary Hormone Deficiency, Combined, 3 23
24 ADR012 Adrenal Gland Disease 52
25 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 47
26 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 16
27 ISL015 Isolated Growth Hormone Deficiency, Type Ib 42
28 PNC048 Pancreatic Lipase Deficiency 28
29 P GNR008 Generalized Resistance to Thyroid Hormone 39
30 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 54
31 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 26
32 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 16
33 ACT238 Acth Deficiency, Isolated 50
34 LRN002 Laron Syndrome 63
35 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 46
36 P SLV026 Salivary Gland Carcinoma 56
37 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 31
38 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 25
39 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 57
40 SLV025 Salivary Gland Adenoma, Pleomorphic 35
41 LCR011 Lacrimal Gland Carcinoma 27
42 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 15
43 NRN044 Neuroendocrine Carcinoma of Pancreas 15
44 ADR054 Adrenocortical Carcinoma, Hereditary 59
45 SLV003 Salivary Gland Disease 51
46 ADR014 Adrenal Medulla Cancer 28
47 ISL001 Islet Cell Tumor 51
48 SWT002 Sweat Gland Cancer 42
49 P HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 30
50 c ACT027 Acute Pancreatitis 59
51 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 35
52 CMB021 Combined Pituitary Hormone Deficiency 40
53 P PNC045 Pancreatic Agenesis 40
54 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 30
55 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 29
56 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
57 INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 13
58 PRR005 Paraurethral Gland Cancer 13
59 P ACT150 Acute Adrenal Insufficiency 45
60 PNC118 Pancreas, Annular 38
61 NNF001 Non-Functioning Pancreatic Endocrine Tumor 34
62 OST141 Osteoclastic Giant Cell Tumor of Pancreas 15
63 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
64 PNC029 Pancreatic Acth Hormone Producing Tumor 6
65 ADR003 Adrenal Neuroblastoma 26
66 GRW003 Growth Hormone Insensitivity with Immunodeficiency 20
67 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
68 ISL123 Isolated Growth Hormone Deficiency, Type Iv 16
69 PTT046 Pituitary Hormone Deficiency, Combined, 2 57
70 c PNC106 Pancreatic Agenesis 1 52
71 TRP008 Tropical Calcific Pancreatitis 50
72 c ATM024 Autoimmune Pancreatitis 48
73 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 43
74 GRW026 Growth Hormone Insensitivity, Partial 27
75 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 48
76 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 36
77 HRM003 Hormone Producing Pituitary Cancer 35
78 SWT004 Sweat Gland Neoplasm 35
79 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31
80 THY053 Thyroid Hormone Plasma Membrane Transport Defect 12
81 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 9
82 GLC042 Glucocorticoid Deficiency 1 40
83 ACC005 Accessory Pancreas 16
84 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 41
85 THY069 Thyroid Hormone Resistance, Selective Pituitary 26
86 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 21
87 KWR001 Kowarski Syndrome 21
88 c PNC105 Pancreatic Agenesis 2 18
89 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
90 PRT030 Parathyroid Gland Disease 51
91 P GRW001 Growth Hormone Secreting Pituitary Adenoma 43
92 c 46X051 46,xy Sex Reversal 1 41
93 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 39
94 c 46X055 46,xy Sex Reversal 3 34
95 THY039 Thyrotropin-Releasing Hormone Deficiency 31
96 MXD003 Mixed Lacrimal Gland Cancer 31
97 BRT045 Bartholin's Gland Benign Neoplasm 30
98 c 46X057 46,xy Sex Reversal 8 27
99 c 46X049 46,xy Sex Reversal 2 26
100 c 46X048 46,xx Sex Reversal 2 26
101 TMR001 Tumor of Exocrine Pancreas 25
102 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 24
103 c 46X030 46,xy Sex Reversal 9 23
104 c 46X058 46,xy Sex Reversal 10 22
105 c 46X017 46,xy Sex Reversal 6 22
106 c 46X056 46,xy Sex Reversal 5 21
107 c 46X047 46,xy Sex Reversal 7 21
108 SBM004 Submandibular Gland Cancer 20
109 c 46X059 46,xx Sex Reversal 4 19
110 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 18
111 c 46X050 46,xx Sex Reversal 3 17
112 c 46X046 46,xy Sex Reversal 4 17
113 HYP746 Hypersecretion of Adrenal Androgens, Familial 11
114 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 8
115 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
116 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 3
117 P PNC044 Pancreatitis 62
118 PNC034 Pancreas Disease 60
119 ADR041 Adrenal Cortical Adenoma 47
120 HDR004 Hidradenoma 43
121 APL002 Aplasia of Lacrimal and Salivary Glands 42
122 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38
123 PNC127 Pancreatic Adenosquamous Carcinoma 24
124 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 24
125 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 17
126 PTT043 Pituitary Hormone Deficiency, Combined, 6 16
127 ISL124 Isolated Growth Hormone Deficiency, Type V 15
128 P HYP083 Hypopituitarism 59
129 c FML297 Familial Thyroid Dyshormonogenesis 42
130 c PRM093 Premature Ovarian Failure 7 39
131 SLL001 Sialolithiasis 31
132 P THY061 Thyroid Dyshormonogenesis 2a 28
133 PNC104 Pancreatic and Cerebellar Agenesis 26
134 c PRM089 Premature Ovarian Failure 3 26
135 CHL075 Cheilitis Glandularis 25
136 c PRM192 Premature Ovarian Failure 8 25
137 THY064 Thyroid Hormone Metabolism, Abnormal 23
138 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
139 c PRM090 Premature Ovarian Failure 6 22
140 c PRM254 Premature Ovarian Failure 11 21
141 c PRM207 Premature Ovarian Failure 10 20
142 c PRM094 Premature Ovarian Failure 5 20
143 c PRM191 Premature Ovarian Failure 9 20
144 P PRM176 Premature Ovarian Failure 2a 19
145 c PRM253 Premature Ovarian Failure 13 18
146 c PRM091 Premature Ovarian Failure 2b 18
147 FBR065 Fibrocalculous Pancreatopathy 18
148 c PRM255 Premature Ovarian Failure 12 17
149 c PRM292 Premature Ovarian Failure 14 16
150 c PRM295 Premature Ovarian Failure 15 15
151 SBL001 Sublingual Gland Cancer 11
152 LCR007 Lacrimal Gland Squamous Cell Carcinoma 10
153 c FML072 Familial Hypopituitarism 8
154 ECT093 Ectopic Cushing Syndrome 51
155 HYP189 Hypoadrenalism 43
156 c SCN052 Secondary Adrenal Insufficiency 42
157 WTR001 Waterhouse-Friderichsen Syndrome 40
158 ALC005 Alcoholic Pancreatitis 38
159 PNC006 Pancreatic Somatostatinoma 37
160 PNC002 Pancreatic Mucinous Cystadenoma 36
161 ATM078 Autoimmune Addison Disease 32
162 MCC003 Mucocele of Salivary Gland 29
163 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 25
164 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 22
165 c ATM064 Autoimmune Pancreatitis Type 1 20
166 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 19
167 CNG298 Congenital Pancreatic Cyst 19
168 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 19
169 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
170 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 12
171 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 8
172 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 7
173 PRR003 Paraurethral Gland Neoplasm 6
174 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 6
175 BRN010 Bronchial Mucus Gland Adenoma 6
176 PLM014 Pleomorphic Adenoma 56
177 P HYP076 Hyperthyroidism 56
178 P PTT006 Pituitary Adenoma 54
179 GRW007 Growth Hormone Deficiency 53
180 INP001 Inappropriate Adh Syndrome 46
181 SBC017 Sebaceous Gland Disease 45
182 ADR022 Adrenomyeloneuropathy 42
183 ADR009 Adrenal Cortex Disease 40
184 SWT003 Sweat Gland Disease 39
185 BRT014 Bartholin's Duct Cyst 33
186 BRT060 Bartholin's Gland Disease 29
187 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 29
188 c THY071 Thyroid Dyshormonogenesis 1 27
189 MTC096 Mitchell-Riley Syndrome 23
190 PTT009 Pituitary Gland Disease 59
191 P PNB001 Pineoblastoma 53
192 ADR040 Adrenal Gland Pheochromocytoma 48
193 PNC016 Pancreatic Cholera 42
194 PRL010 Prolactin Producing Pituitary Tumor 39
195 PNC019 Pancreatoblastoma 37
196 EXT054 Extra-Adrenal Pheochromocytoma 32
197 GRW023 Growth Hormone Deficiency, Isolated Partial 27
198 c ADL025 Adult Pineoblastoma 26
199 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
200 BRT012 Bartholin's Gland Adenoma 25
201 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
202 PNC014 Pancreatic Serous Cystadenocarcinoma 19
203 PRP074 Peripheral Resistance to Thyroid Hormones 17
204 PNC009 Pancreas Sarcoma 11
205 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 11
206 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 11
207 BRT010 Bartholin's Gland Transitional Cell Carcinoma 10
208 PRT100 Parotid Gland Adenoid Cystic Carcinoma 9
209 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 8
210 VLV037 Vulvar Glandular Tumor 7
211 VGN021 Vaginal Glandular Tumor 7
212 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 7
213 MNR001 Minor Vestibular Glands Adenoma 7
214 BRT007 Bartholin's Gland Squamous Cell Carcinoma 7
215 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
216 BRT009 Bartholin's Gland Adenomyoma 6
217 c SLV006 Salivary Gland Cancer, Adult 6
218 P HYP086 Hypothyroidism 66
219 P PLY011 Polycystic Ovary Syndrome 64
220 c PTT057 Pituitary Adenoma 4, Acth-Secreting 55
221 P ACT010 Acth-Secreting Pituitary Adenoma 52
222 THY030 Thyroid Gland Disease 51
223 TSH001 Tsh Producing Pituitary Tumor 50
224 FLL031 Follicular Adenoma 43
225 ADR010 Adrenal Cortical Hypofunction 43
226 c PLY105 Polycystic Ovary Syndrome 1 43
227 ALD013 Aldosterone-Producing Adenoma 41
228 c RCR022 Recurrent Acute Pancreatitis 39
229 PNC038 Pancreatic Cystadenocarcinoma 37
230 END038 Endocrine Pancreas Disease 36
231 PNC039 Pancreatic Cystadenoma 36
232 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 35
233 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 31
234 PNC028 Pancreatic Steatorrhea 31
235 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 30
236 ADR001 Adrenal Rest Tumor 29
237 c NNS018 Nonsyndromic Paraganglioma 28
238 HLX001 Helix Syndrome 28
239 PNC027 Pancreatic Gastrinoma 28
240 c PRG020 Paragangliomas 3 27
241 c PRG021 Paragangliomas 4 27
242 THY026 Thymus Gland Disease 25
243 c THY056 Thyroid Dyshormonogenesis 3 25
244 c THY063 Thyroid Dyshormonogenesis 4 25
245 SBM003 Submandibular Gland Disease 25
246 HYP705 Hyperadrenalism 24
247 c PRG019 Paragangliomas 2 24
248 GLN006 Glandular Cystitis 24
249 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
250 DPL009 Duplication of the Pituitary Gland 23
251 FNC003 Functionless Pituitary Adenoma 22
252 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
253 APC009 Apocrine Gland Secretion, Variation in 22
254 PPM002 Ppoma 20
255 c PRG094 Paragangliomas 5 19
256 c THY062 Thyroid Dyshormonogenesis 5 18
257 c THY110 Thyroid Dyshormonogenesis 6 18
258 BLT017 Bilateral Massive Adrenal Hemorrhage 18
259 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 17
260 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 17
261 ADN072 Adenoma of Pancreas 15
262 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
263 c ATM063 Autoimmune Pancreatitis Type 2 14
264 PNC024 Pancreatic Colloid Cystadenoma 13
265 SQM014 Squamous Cell Carcinoma of Pancreas 13
266 P CSH002 Cushing Syndrome, Familial 11
267 PNC017 Pancreatic Serous Cystic Neoplasm 9
268 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
269 SLV014 Salivary Gland Type Cancer of the Breast 8
270 FLL045 Follicular Cholangitis and Pancreatitis 8
271 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
272 PNC007 Pancreas Lymphoma 8
273 FNC012 Functioning Pancreatic Endocrine Tumor 7
274 PNC031 Pancreatic Foamy Gland Adenocarcinoma 7
275 ANL002 Anal Gland Neoplasm 7
276 PNC037 Pancreatic Colloid Cystadenocarcinoma 6
277 CHR002 Chronic Lacrimal Gland Enlargement 6
278 PRL002 Prolapse of Lacrimal Gland 6
279 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 6
280 PNC040 Pancreatic Delta Cell Neoplasm 6
281 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
282 ADR006 Adrenal Gland Ganglioneuroblastoma 5
283 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
284 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
285 SLV007 Salivary Gland Cancer, Childhood 3
286 RSS003 Resistance to Lh 3
287 c CNG006 Congenital Hypothyroidism 64
288 P MMP001 Mumps 61
289 PRT029 Parathyroid Adenoma 52
290 MBM001 Meibomian Cyst 39
291 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 23
292 c PTT060 Pituitary Adenoma 5, Multiple Types 16
293 c CNG110 Congenital Mumps 8
294 ADN018 Adenoma 65
295 P HYP069 Hyperparathyroidism 59
296 EXC002 Exocrine Pancreatic Insufficiency 42
297 P HYP120 Hypoaldosteronism 40
298 ECC002 Eccrine Acrospiroma 38
299 PPL017 Papillary Hidradenoma 34
300 PNC018 Pancreatic Serous Cystadenoma 33
301 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 31
302 CYT014 Cytochrome P450 Oxidoreductase Deficiency 27
303 c HYP311 Hyperparathyroidism 3 25
304 VST005 Vestibular Gland Benign Neoplasm 24
305 MRT009 Martinez-Frias Syndrome 20
306 PNC126 Pancreatic Squamous Cell Carcinoma 19
307 c HYP720 Hyperparathyroidism 4 18
308 PNC049 Pancreatic Adenoma 18
309 GLN001 Glandular Tularemia 16
310 c FML275 Familial Hypoaldosteronism 13
311 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 11
312 CWP002 Cowper Gland Carcinoma 10
313 LTT003 Littre Gland Carcinoma 6
314 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
315 PNC055 Pancreatitis, Pediatric 6
316 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
317 P GRV001 Graves' Disease 61
318 P PRG013 Paraganglioma 58
319 c HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58
320 MST005 Mastitis 57
321 c GRV008 Graves Disease 1 57
322 PTT004 Pituitary Apoplexy 51
323 CHR034 Chromophobe Adenoma 44
324 NNF007 Non-Functioning Pituitary Adenoma 40
325 GGN002 Gigantism 37
326 FNC007 Functioning Pituitary Adenoma 36
327 PPL001 Papillary Adenoma 35
328 SBC009 Sebaceous Adenoma 33
329 PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 30
330 PTT001 Pituitary Hypoplasia 29
331 CLL009 Colloid Carcinoma of the Pancreas 29
332 IDP085 Idiopathic Infantile Hypercalcemia 28
333 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 28
334 THY016 Thyroid Hurthle Cell Adenoma 25
335 SLN005 Silent Pituitary Adenoma 24
336 ACR079 Acrodysostosis with Multiple Hormone Resistance 23
337 GRF006 Grfoma 23
338 BSP001 Basophil Adenoma 20
339 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 19
340 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 19
341 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 16
342 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 16
343 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 16
344 PNL001 Pineal Gland Astrocytoma 15
345 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 15
346 CHF001 Chief Cell Adenoma 15
347 HYP611 Hypoparathyroidism, X-Linked 15
348 PRM146 Primary Unilateral Adrenal Hyperplasia 14
349 c PTT061 Pituitary Adenoma 3, Multiple Types 14
350 TRY003 Trypsinogen Deficiency 14
351 SMT017 Somatomammotropinoma 14
352 GLC107 Glucocorticoid Deficiency 5 13
353 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 13
354 IGG012 Igg4-Related Submandibular Gland Disease 12
355 ECT055 Ectopic Aldosterone-Producing Tumor 12
356 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 12
357 PNC123 Pancreatic Insufficiency, Combined Exocrine 11
358 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 11
359 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
360 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
361 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 11
362 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 11
363 ECT097 Ectodermal Dysplasia with Adrenal Cyst 10
364 c GRV009 Graves Disease 2 10
365 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
366 URT019 Urethral Gland Abscess 8
367 c PRS050 Prss1-Related Hereditary Pancreatitis 8
368 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 8
369 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
370 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
371 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
372 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 6
373 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 6
374 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
375 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
376 PNC125 Pancreatic Lymphoma, Familial 6
377 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
378 PRT020 Parathyroid Oncocytic Adenoma 5
379 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
380 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 5
381 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 5
382 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
383 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 5
384 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 5
385 PNC026 Pancreatic Mucinous Ductal Ectasia 5
386 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
387 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
388 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 1
389 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 92
390 P ATX030 Ataxia-Telangiectasia 83
391 P NNN008 Noonan Syndrome 1 79
392 P SRC025 Sarcoidosis 1 76
393 P DBT085 Diabetes Mellitus, Insulin-Dependent 73
394 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 73
395 ADR007 Adrenoleukodystrophy 72
396 P TRN020 Turner Syndrome 72
397 VNH007 Von Hippel-Lindau Syndrome 72
398 P ALG028 Alagille Syndrome 1 71
399 P FRG001 Fragile X Syndrome 70
400 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 70
401 c PRM196 Premature Ovarian Failure 1 69
402 SMT004 Smith-Lemli-Opitz Syndrome 69
403 LVR012 Liver Cirrhosis 67
404 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
405 c GLY008 Glycogen Storage Disease Ii 67
406 c NNN010 Noonan Syndrome 3 66
407 MCC012 Mccune-Albright Syndrome 65
408 CRB011 Cerebrotendinous Xanthomatosis 65
409 c CNG411 Congenital Disorder of Glycosylation, Type in 65
410 P BRD002 Bardet-Biedl Syndrome 65
411 TNG002 Tangier Disease 64
412 P LPR021 Leprosy 3 63
413 P OVR049 Ovarian Disease 63
414 c GLY060 Glycogen Storage Disease Ia 62
415 c GLY003 Glycogen Storage Disease Iii 62
416 P GLY013 Glycogen Storage Disease 62
417 P PRT013 Portal Hypertension 61
418 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61
419 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 61
420 c BRD014 Bardet-Biedl Syndrome 2 61
421 VSC003 Visceral Leishmaniasis 61
422 LYS012 Lysosomal Acid Lipase Deficiency 60
423 P WLF004 Wolfram Syndrome 60
424 CFF002 Coffin-Lowry Syndrome 60
425 HPT046 Hepatic Veno-Occlusive Disease 59
426 c PRX045 Peroxisome Biogenesis Disorder 1b 59
427 c MLT159 Multiple Endocrine Neoplasia, Type Iib 59
428 c CRP023 Carpenter Syndrome 1 59
429 P NPH012 Nephrotic Syndrome 59
430 c BRD010 Bardet-Biedl Syndrome 1 58
431 HYP060 Hyperinsulinism 57
432 c GLY005 Glycogen Storage Disease Vi 57
433 P MLT074 Multiple Endocrine Neoplasia 56
434 P HYP024 Hypoparathyroidism 56
435 c SCN007 Secondary Hyperparathyroidism 56
436 P DBT005 Diabetes Insipidus 55
437 c NNN012 Noonan Syndrome 5 55
438 c GLY004 Glycogen Storage Disease V 55
439 GTR002 Goiter 54
440 LPR001 Lepromatous Leprosy 54
441 c WLF013 Wolfram Syndrome 1 54
442 P THY032 Thyroiditis 54
443 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
444 c MLT086 Multiple Endocrine Neoplasia, Type Iv 53
445 HYP080 Hypogonadism 53
446 c GLY007 Glycogen Storage Disease Iv 52
447 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 52
448 P PRC019 Precocious Puberty 52
449 P OVR046 Ovarian Cyst 52
450 HPT009 Hepatopulmonary Syndrome 52
451 c CNT075 Central Precocious Puberty 52
452 c BRD012 Bardet-Biedl Syndrome 11 52
453 NNT017 Neonatal Adrenoleukodystrophy 52
454 c GLY011 Glycogen Storage Disease Vii 52
455 P BRS053 Breast Fibroadenoma 51
456 c NNN009 Noonan Syndrome 2 51
457 c PRX059 Peroxisome Biogenesis Disorder 1a 51
458 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
459 DBT004 Diabetic Polyneuropathy 50
460 HYP043 Hyperandrogenism 50
461 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 50
462 c THY107 Thymoma, Familial 50
463 DRM013 Dermoid Cyst 50
464 ANV001 Anovulation 49
465 GND003 Gonadal Disease 49
466 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
467 c BRD013 Bardet-Biedl Syndrome 12 49
468 SXD002 Sex Development Disorder 49
469 HYP741 Hyperparathyroidism 2 with Jaw Tumors 49
470 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
471 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 48
472 JHN001 Johanson-Blizzard Syndrome 48
473 TBR006 Tuberculoid Leprosy 48
474 HYP347 Hypotonia-Cystinuria Syndrome 48
475 P ATM019 Autoimmune Polyendocrine Syndrome 48
476 NDL007 Nodular Goiter 48
477 GYN001 Gynecomastia 47
478 c NPH055 Nephrotic Syndrome, Type 1 47
479 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
480 PRS042 Prostate Disease 47
481 c BRD044 Bardet-Biedl Syndrome 17 47
482 LPP002 Lipoprotein Glomerulopathy 47
483 c BRD016 Bardet-Biedl Syndrome 4 46
484 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 46
485 HYP085 Hypothalamic Disease 46
486 P PRT026 Parotitis 46
487 PRM013 Premature Menopause 46
488 MRG013 Mirage Syndrome 45
489 c BRD032 Bardet-Biedl Syndrome 14 45
490 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
491 c BRD011 Bardet-Biedl Syndrome 10 45
492 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
493 P HRD086 Hereditary Hypophosphatemic Rickets 45
494 PRS127 Pearson Marrow-Pancreas Syndrome 44
495 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 44
496 P MLT008 Multinodular Goiter 44
497 P OVR010 Ovarian Brenner Tumor 44
498 PSD009 Pseudohermaphroditism 44
499 c NNN013 Noonan Syndrome 6 44
500 MYX004 Myxedema 44
501 HYP026 Hypoglycemic Coma 44
502 c BRD020 Bardet-Biedl Syndrome 8 43
503 c NNN011 Noonan Syndrome 4 43
504 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 43
505 PTT003 Pituitary-Dependent Cushing's Disease 43
506 DYS101 Dysgerminoma 43
507 ACD008 Acid-Labile Subunit Deficiency 43
508 c SBC007 Subacute Thyroiditis 43
509 c BRD033 Bardet-Biedl Syndrome 13 42
510 c FML015 Familial Nephrotic Syndrome 42
511 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 42
512 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
513 HYP070 Hyperpituitarism 42
514 ETH004 Euthyroid Sick Syndrome 42
515 c BRD048 Bardet-Biedl Syndrome 18 42
516 HYP064 Hypogonadotropism 42
517 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
518 DBT090 Diabetes and Deafness, Maternally Inherited 41
519 HRM002 Hermaphroditism 41
520 c BRD015 Bardet-Biedl Syndrome 3 41
521 OVR051 Ovarian Endodermal Sinus Tumor 41
522 END011 Endometriosis of Ovary 41
523 c GLY098 Glycogen Storage Disease, Type Ixd 40
524 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
525 c SRC023 Sarcoidosis 2 40
526 ORC001 Orchitis 40
527 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
528 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
529 c BRD018 Bardet-Biedl Syndrome 6 40
530 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
531 c NNN024 Noonan Syndrome 9 40
532 c NNN021 Noonan Syndrome 8 40
533 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
534 END028 Endemic Goiter 39
535 c MLG059 Malignant Struma Ovarii 39
536 c BRD035 Bardet-Biedl Syndrome 15 39
537 EST004 Estrogen Excess 39
538 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 39
539 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 39
540 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
541 c 46X002 46 Xx Gonadal Dysgenesis 39
542 c BRD017 Bardet-Biedl Syndrome 5 39
543 ADN064 Adenohypophysitis 39
544 c GLY023 Glycogen Storage Disease Type 0 39
545 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
546 c NPH049 Nephrotic Syndrome, Type 2 38
547 MLR009 Miliaria 38
548 PLM011 Plummer's Disease 38
549 c GLY044 Glycogen Storage Disease Ixc 38
550 SML028 Semilobar Holoprosencephaly 37
551 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
552 OHD005 Ohdo Syndrome, Sbbys Variant 37
553 c HYP243 Hyperparathyroidism 1 37
554 P STR021 Struma Ovarii 37
555 c NPH070 Nephrotic Syndrome, Type 6 36
556 c GLY016 Glycogen Storage Disease Ib 36
557 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
558 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
559 ALB014 Alobar Holoprosencephaly 36
560 HPT006 Hepatic Angiomyolipoma 36
561 c NNN025 Noonan Syndrome 10 36
562 OVR109 Ovarian Germ Cell Teratoma 36
563 ATH010 Athyreosis 36
564 c BRD045 Bardet-Biedl Syndrome 19 36
565 LBR025 Lobar Holoprosencephaly 36
566 OVR017 Ovarian Cystic Teratoma 36
567 ADN075 Adenomyoma 36
568 c CNT101 Central Congenital Hypothyroidism 36
569 THY001 Thyroid Crisis 35
570 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 35
571 c NPH054 Nephrotic Syndrome, Type 3 35
572 c MLG157 Malignant Pheochromocytoma 35
573 c WLF009 Wolfram Syndrome 2 35
574 NNT010 Nontoxic Goiter 34
575 c NNN020 Noonan Syndrome 7 34
576 THY007 Thymus Lipoma 34
577 P MXD016 Mixed Gonadal Dysgenesis 34
578 c OVR075 Ovarian Dysgenesis 1 34
579 c BRD047 Bardet-Biedl Syndrome 16 34
580 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
581 P SRT002 Sertoli Cell Tumor 33
582 THY003 Thymic Dysplasia 33
583 LTM002 Luteoma 33
584 c CNG379 Congenital Disorder of Glycosylation, Type It 33
585 c PRX055 Peroxisome Biogenesis Disorder 11a 33
586 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
587 EPS001 Epstein-Barr Virus Hepatitis 32
588 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 32
589 GRN009 Granulomatous Hepatitis 32
590 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 31
591 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
592 CYS015 Cystadenofibroma 31
593 SPT016 Septopreoptic Holoprosencephaly 31
594 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
595 OVR048 Ovarian Cystadenoma 31
596 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
597 PST014 Postsurgical Hypothyroidism 30
598 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
599 DYS017 Dysgerminoma of Ovary 30
600 c BRD019 Bardet-Biedl Syndrome 7 30
601 c CNG188 Congenital Disorder of Glycosylation, Type if 30
602 BRD005 Borderline Leprosy 30
603 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
604 c ATM068 Autoimmune Hypoparathyroidism 30
605 c PRX060 Peroxisome Biogenesis Disorder 5a 30
606 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
607 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
608 c PRX063 Peroxisome Biogenesis Disorder 2a 29
609 c NPH072 Nephrotic Syndrome, Type 7 29
610 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 29
611 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
612 c ALG016 Alagille Syndrome 2 29
613 c TYP010 Type C Thymoma 29
614 c RBN008 Rubinstein-Taybi Syndrome 2 29
615 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
616 c BNG029 Benign Struma Ovarii 29
617 MCR014 Microcystic Adenoma 29
618 IDP034 Idiopathic Central Precocious Puberty 29
619 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
620 ACD001 Acidophil Adenoma 29
621 NNT003 Neonatal Thyrotoxicosis 29
622 c GLY097 Glycogen Storage Disease Ixb 29
623 CRT005 Cortical Thymoma 29
624 c PRX056 Peroxisome Biogenesis Disorder 11b 29
625 c GLY017 Glycogen Storage Disease Ic 29
626 c GLY009 Glycogen Storage Disease Xv 29
627 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 28
628 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 28
629 PTT010 Pituitary Infarct 28
630 c ACT053 Acute Thyroiditis 28
631 c GLY043 Glycogen Storage Disease Xii 28
632 c GLY057 Glycogen Storage Disease X 28
633 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
634 c PRX048 Peroxisome Biogenesis Disorder 10a 28
635 c PRX054 Peroxisome Biogenesis Disorder 12a 28
636 c PRX053 Peroxisome Biogenesis Disorder 14b 28
637 HYP029 Hyperthyroxinemia 28
638 c LPR022 Leprosy 2 27
639 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 27
640 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
641 P KNN002 Kenny-Caffey Syndrome 27
642 SBS002 Substernal Goiter 27
643 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
644 c PRX051 Peroxisome Biogenesis Disorder 6a 27
645 c CRP022 Carpenter Syndrome 2 27
646 ECT003 Ectopic Thymus 27
647 TXC004 Toxic Diffuse Goiter 26
648 P ATM067 Autoimmune Polyendocrinopathy Type 3 26
649 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
650 c GLY006 Glycogen Storage Disease Viii 26
651 P OVR076 Ovarian Dysgenesis 2 26
652 CPL001 Capillariasis 26
653 c BRD021 Bardet-Biedl Syndrome 9 26
654 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26
655 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
656 PNL023 Penile Agenesis 26
657 c BRD050 Bardet-Biedl Syndrome 21 26
658 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
659 FNC050 Functioning Gonadotropic Adenoma 25
660 c PRX050 Peroxisome Biogenesis Disorder 9b 25
661 c NPH047 Nephrotic Syndrome, Type 4 25
662 IMM005 Immature Teratoma of Ovary 25
663 MXD027 Mixed Type Thymoma 25
664 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 25
665 OVR003 Ovarian Angiosarcoma 25
666 SPP005 Suppurative Thyroiditis 25
667 c NPH102 Nephrotic Syndrome, Type 14 25
668 PDT003 Pediatric Ovarian Dysgerminoma 25
669 c PRX046 Peroxisome Biogenesis Disorder 7a 25
670 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
671 c PRX091 Peroxisome Biogenesis Disorder 8a 25
672 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
673 SPN048 Spindle Cell Thymoma 25
674 MTR011 Mature Teratoma of the Ovary 25
675 c PRX057 Peroxisome Biogenesis Disorder 4a 25
676 THY098 Thyroid Ectopia 25
677 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
678 c PRX065 Peroxisome Biogenesis Disorder 3a 25
679 IND004 Indeterminate Leprosy 25
680 MCN003 Mucinous Ovarian Cystadenoma 25
681 c PRX043 Peroxisome Biogenesis Disorder 6b 25
682 c PSD047 Pseudo-Turner Syndrome 25
683 PNL003 Pineal Region Meningioma 25
684 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 24
685 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 24
686 DND003 Dendritic Cell Thymoma 24
687 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 24
688 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
689 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 24
690 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
691 c PRX052 Peroxisome Biogenesis Disorder 13a 24
692 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 24
693 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 24
694 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 24
695 UVP001 Uveoparotid Fever 24
696 CRP004 Corpus Luteum Cyst 24
697 OVR001 Ovarian Stromal Hyperthecosis 23
698 OVR056 Ovarian Primitive Germ Cell Tumor 23
699 c PRX058 Peroxisome Biogenesis Disorder 4b 23
700 c PRX047 Peroxisome Biogenesis Disorder 5b 23
701 c NPH073 Nephrotic Syndrome, Type 8 23
702 c PRX062 Peroxisome Biogenesis Disorder 8b 23
703 c BRD051 Bardet-Biedl Syndrome 20 23
704 ATY007 Atypical Follicular Adenoma 23
705 MSC089 Mosaic Monosomy X 23
706 PNL011 Pineal Region Germinoma 23
707 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 23
708 c PRC047 Precocious Puberty, Central, 1 23
709 c GLY001 Glycogen Storage Disease Ix 23
710 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 22
711 c GLY059 Glycogen Storage Disease Xiii 22
712 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 22
713 FRM001 Freemartinism 22
714 c NPH074 Nephrotic Syndrome, Type 9 22
715 c NPH103 Nephrotic Syndrome, Type 15 22
716 c ATM066 Autoimmune Polyendocrinopathy Type 4 22
717 P TTR028 Tetraamelia Syndrome 1 22
718 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 22
719 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 22
720 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22
721 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 22
722 NNF008 Non-Functioning Paraganglioma 22
723 c NPH095 Nephrotic Syndrome, Type 11 22
724 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 22
725 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 22
726 c MLG053 Malignant Ovarian Brenner Tumor 22
727 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
728 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
729 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21
730 c PRX066 Peroxisome Biogenesis Disorder 3b 21
731 c MLG022 Malignant Sertoli Cell Tumor 21
732 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 21
733 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 21
734 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
735 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
736 c OVR107 Ovarian Dysgenesis 4 21
737 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 21
738 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
739 PNH004 Panhypophysitis 21
740 THY004 Thyroid Angiosarcoma 20
741 ENC001 Encapsulated Thymoma 20
742 c NPH096 Nephrotic Syndrome, Type 12 20
743 P PRX064 Peroxisome Biogenesis Disorder 2b 20
744 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 20
745 c PRC046 Precocious Puberty, Central, 2 20
746 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
747 MCN010 Mucinous Cystadenofibroma 20
748 PRD041 Periodic Fever, Menstrual Cycle-Dependent 20
749 OVR002 Ovarian Serous Cystadenofibroma 20
750 c MLG033 Malignant Ovarian Cyst 20
751 c LPR023 Leprosy 1 20
752 c PRX089 Peroxisome Biogenesis Disorder 10b 20
753 DST037 Distal Monosomy 9p 19
754 CRT066 Cortisone Reductase Deficiency 2 19
755 c PRX068 Peroxisome Biogenesis Disorder 7b 19
756 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 19
757 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 19
758 CRT065 Cortisone Reductase Deficiency 1 19
759 IGG015 Igg4-Related Thyroid Disease 19
760 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 19
761 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 19
762 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
763 c OVR102 Ovarian Dysgenesis 3 19
764 c NPH076 Nephrotic Syndrome, Type 10 19
765 PLY115 Polyendocrine-Polyneuropathy Syndrome 19
766 ATR009 Atrophy of Testis 19
767 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 19
768 TTR018 Tetragametic Chimerism 19
769 c NPH104 Nephrotic Syndrome, Type 16 18
770 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 18
771 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
772 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 18
773 CLL011 Colloid Adenoma 18
774 ENC002 Eunuchism 18
775 DYS008 Dyshormonogenic Goiter 18
776 c OVR115 Ovarian Dysgenesis 5 18
777 LTN011 Late-Onset Isolated Acth Deficiency 18
778 c NPH093 Nephrotic Syndrome, Type 13 18
779 6Q1001 6q16 Deletion Syndrome 18
780 c HRD156 Hereditary Central Diabetes Insipidus 17
781 P SLP004 Salpingo-Oophoritis 17
782 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
783 MYP026 Myopathy - Thyrotoxic 17
784 OVR057 Ovarian Serous Adenofibroma 17
785 c OVR119 Ovarian Dysgenesis 7 17
786 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 17
787 c NPH105 Nephrotic Syndrome, Type 17 17
788 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 17
789 c SRC024 Sarcoidosis 3 17
790 GRN002 Granulomatous Orchitis 17
791 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 17
792 c NPH107 Nephrotic Syndrome, Type 19 17
793 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
794 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
795 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
796 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 16
797 c NPH106 Nephrotic Syndrome, Type 18 16
798 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 16
799 c OVR120 Ovarian Dysgenesis 8 16
800 c THY086 Thymoma Type B 16
801 HRD017 Hordeolum Externum 16
802 c GLY093 Glycogen Storage Disease Ixa 16
803 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 16
804 OVR009 Ovarian Gonadoblastoma 16
805 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 16
806 c ACQ034 Acquired Central Diabetes Insipidus 16
807 c TTR029 Tetraamelia Syndrome 2 16
808 c OVR118 Ovarian Dysgenesis 6 15
809 c MLT120 Multiple Fibroadenomas of the Breast 15
810 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
811 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
812 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
813 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 15
814 HYP645 Hyperthyroxinemia, Dystransthyretinemic 15
815 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
816 XSM001 X Small Rings 15
817 PLY009 Polyembryoma of the Ovary 15
818 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 15
819 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 15
820 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
821 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 15
822 PRT021 Parathyroid Transitional Clear Cell Adenoma 15
823 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
824 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 14
825 OVR037 Ovarian Solid Teratoma 14
826 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 14
827 c LPR017 Leprosy 5 14
828 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
829 PLY003 Polycystic Echinococcosis 14
830 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
831 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 14
832 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 14
833 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 14
834 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 14
835 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
836 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 14
837 MXD024 Mixed Epithelial Tumor of Ovary 14
838 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 14
839 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
840 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
841 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 13
842 XLN113 X-Linked Intellectual Disability, Van Esch Type 13
843 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
844 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 13
845 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13
846 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 13
847 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
848 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
849 c LPR016 Leprosy 4 13
850 c GTR013 Goiter, Multinodular 2 13
851 c THY087 Thymoma Type Ab 13
852 46X015 46,xy Ovotesticular Disorder of Sex Development 13
853 OVR035 Ovary Leiomyosarcoma 13
854 c LPR020 Leprosy 6 13
855 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 12
856 CMB001 Combined Thymoma 12
857 OVR039 Ovarian Mesodermal Adenosarcoma 12
858 MYX002 Myxoid Liposarcoma of the Ovary 12
859 c THY085 Thymoma Type a 12
860 P HYP284 Hypospadias 1, X-Linked 12
861 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
862 LPS003 Liposarcoma of the Ovary 12
863 P OVR045 Ovarian Clear Cell Adenofibroma 12
864 OVR038 Ovarian Fetiform Teratoma 12
865 c HYP270 Hypospadias 2, X-Linked 12
866 PNN006 Panniculitis-Induced Localized Lipodystrophy 12
867 NLL003 Null Pituitary Adenoma 11
868 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
869 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
870 c GTR014 Goiter, Multinodular 3 11
871 c CHR018 Chronic Salpingo-Oophoritis 11
872 CLR006 Clear Cell Cystadenofibroma 11
873 IDP061 Idiopathic Congenital Hypothyroidism 11
874 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 11
875 PDT046 Pediatric-Onset Graves Disease 11
876 RDL003 Riedel's Fibrosing Thyroiditis 10
877 THY020 Thyroid Hyalinizing Trabecular Adenoma 10
878 GNT039 Genetic Transient Congenital Hypothyroidism 10
879 INT222 Intermediate Dend Syndrome 10
880 ABN002 Abnormality of Glucagon Secretion 10
881 c SCN039 Secondary Central Precocious Puberty 10
882 P OVR052 Ovarian Endometrioid Adenofibroma 9
883 BRS039 Breast Fibroadenosis 9
884 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 9
885 OVR023 Ovary Rhabdomyosarcoma 9
886 PNL005 Pineal Region Immature Teratoma 9
887 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9
888 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
889 IDN001 Iodine Hypothyroidism 8
890 PNL015 Pineal Region Teratoma 8
891 c MLG034 Malignant Type a Thymoma 8
892 c MLG040 Malignant Type Ab Thymoma 8
893 OVR031 Ovarian Papillary Cystadenoma 8
894 TST011 Testis Rhabdomyosarcoma 8
895 OVR008 Ovarian Mucinous Cystadenofibroma 8
896 TST008 Testis Polyembryoma 8
897 LNG018 Lingual Goiter 8
898 TBR005 Tuberculous Oophoritis 8
899 P RBN007 Rubinstein Taybi Like Syndrome 7
900 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
901 c HYP653 Hypospadias 4, X-Linked 7
902 P OVR053 Ovarian Mucinous Adenofibroma 7
903 PNL004 Pineal Region Mature Teratoma 7
904 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
905 OVR032 Ovarian Surface Papilloma 7
906 CHL063 Childhood Teratoma of the Ovary 7
907 CHL036 Childhood Mature Teratoma of the Ovary 7
908 CHL011 Childhood Immature Teratoma of Ovary 7
909 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
910 c ACT031 Acute Salpingo-Oophoritis 7
911 c PRD024 Prader-Willi Syndrome Due to Translocation 6
912 OVR019 Ovarian Malignant Mesothelioma 6
913 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 6
914 c PRT125 Parotitis, Juvenile Recurrent 6
915 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
916 PST024 Post-Surgical Hypoinsulinemia 5
917 OVR014 Ovarian Clear Cell Cystadenofibroma 5
918 OVR007 Ovarian Endometrioid Cystadenoma 5
919 OVR036 Ovarian Endometrioid Cystadenofibroma 5
920 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 5
921 MXD004 Mixed Eosinophil-Basophil Adenoma 5
922 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
923 P SYC001 Say Carpenter Syndrome 5
924 SPR069 Sporadic Secreting Paraganglioma 5
925 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
926 PNL008 Pineal Dysgerminoma 5
927 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
928 c OVR071 Ovarian Insufficiency, Familial 4
929 THY002 Thyrocalcitonin Secretion Disease 4
930 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 4
931 THY021 Thyroid Malformation 4
932 c FRG006 Fragile X Syndrome Type 3 4
933 c FRG004 Fragile X Syndrome Type 1 4
934 c FRG005 Fragile X Syndrome Type 2 4
935 MDL001 Medulloadrenal Hyperfunction 3
936 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
937 c PRT053 Portal Hypertension Due to Infrahepatic Block 3
938 NNS030 Non-Secreting Chemodectoma 3
939 P PNC035 Pancreatic Cancer 83
940 PRT010 Parathyroid Carcinoma 65
941 PNC119 Pancreatic Neuroendocrine Tumor 49
942 P MCK013 Meckel Syndrome, Type 1 63
943 c MCK012 Meckel Syndrome, Type 6 42
944 c MCK032 Meckel Syndrome, Type 3 41
945 c MCK031 Meckel Syndrome, Type 2 37
946 c MCK033 Meckel Syndrome, Type 4 36
947 c MCK030 Meckel Syndrome, Type 7 36
948 c MCK014 Meckel Syndrome, Type 5 35
949 c MCK034 Meckel Syndrome, Type 8 31
950 c MCK028 Meckel Syndrome 13 25
951 c MCK035 Meckel Syndrome, Type 10 23
952 c MCK026 Meckel Syndrome 12 22
953 c MCK036 Meckel Syndrome, Type 9 20
954 c MCK020 Meckel Syndrome, Type 11 19
955 ADR016 Adrenal Cortical Carcinoma 58
956 END035 Endocrine Gland Cancer 57
957 SPT006 Septooptic Dysplasia 54
958 THY028 Thyroid Cancer 72
959 P LFR001 Li-Fraumeni Syndrome 71
960 PNC033 Pancreas Adenocarcinoma 67
961 c LFR007 Li-Fraumeni Syndrome 2 50
962 PNL014 Pineal Gland Cancer 44
963 MLN047 Melanoma-Pancreatic Cancer Syndrome 25
964 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 36
965 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 34
966 FML063 Familial Glucocorticoid Deficiency 41
967 BRT016 Bartholin's Gland Carcinoma 29
968 PNC013 Pancreatic Ductal Carcinoma 47
969 GRD009 Gordon Holmes Syndrome 39
970 PRT009 Parotid Gland Cancer 34
971 ANL012 Anal Gland Adenocarcinoma 24
972 BRT015 Bartholin's Gland Adenocarcinoma 13
973 c MLT156 Multiple Endocrine Neoplasia, Type I 72
974 c PTT056 Pituitary Adenoma 1, Multiple Types 51
975 SBC011 Sebaceous Adenocarcinoma 48
976 P LYD011 Leydig Cell Hypoplasia 37
977 ACR007 Acromegaly 71
978 PND002 Pendred Syndrome 57
979 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 53
980 ADR004 Adrenal Cortical Adenocarcinoma 48
981 APC004 Apocrine Adenocarcinoma 42
982 PTT048 Pituitary Adenoma, Prolactin-Secreting 62
983 PNC015 Pancreatic Acinar Cell Adenocarcinoma 35
984 c PNC111 Pancreatic Cancer 2 23
985 c PNC103 Pancreatic Cancer 4 22
986 ACN026 Acinar Cell Carcinoma of Pancreas 20
987 c PNC095 Pancreatic Cancer 3 19
988 c PNC094 Pancreatic Cancer 1 16
989 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 57
990 PNC008 Pancreatic Endocrine Carcinoma 38
991 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 12
992 PNC051 Pancreatic Cancer, Childhood 5
993 SLD003 Sialadenitis 49
994 GLN002 Glanders 43
995 IMM064 Immunodeficiency, Common Variable, 10 33
996 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 56
997 P HYP050 Hyperinsulinemic Hypoglycemia 55
998 PNC041 Pancreatic Ductal Adenocarcinoma 54
999 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 52
1000 ULN003 Ulnar-Mammary Syndrome 49
1001 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 40
1002 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1003 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 38
1004 LCR009 Lacrimal Gland Adenocarcinoma 21
1005 BRT003 Bartholin's Gland Small Cell Carcinoma 7
1006 YRF001 Yorifuji Okuno Syndrome 7
1007 c PSD108 Pseudohypoparathyroidism, Type Ia 57
1008 PNC056 Pineocytoma 51
1009 PTT008 Pituitary Carcinoma 48
1010 SBC018 Sebaceous Gland Neoplasm 33
1011 GST051 Gastrointestinal Tuberculosis 31
1012 THY031 Thyroid Sarcoma 27
1013 c MLG048 Malignant Acrospiroma 25
1014 P ACR049 Acrospiroma 21
1015 TNG006 Tunglang Savage Bellman Syndrome 13
1016 EMP001 Empty Sella Syndrome 43
1017 HYP249 Hyperthyroidism, Nonautoimmune 31
1018 INS001 Insulinoma 66
1019 SHH001 Sheehan Syndrome 51
1020 CLL036 Culler-Jones Syndrome 43
1021 MKL001 Mikulicz Disease 39
1022 WDH001 Wdha Syndrome 34
1023 ADR023 Adrenomyodystrophy 33
1024 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 15
1025 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
1026 DFF036 Differentiated Thyroid Carcinoma 55
1027 CYS014 Cystadenocarcinoma 53
1028 P THY054 Thyrotoxic Periodic Paralysis 53
1029 TST015 Testicular Disease 52
1030 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 52
1031 MCP006 Mucoepidermoid Carcinoma 52
1032 CRT046 Corticosteroid-Binding Globulin Deficiency 43
1033 FXF002 Fox-Fordyce Disease 41
1034 ANL011 Anal Canal Carcinoma 40
1035 P FML156 Familial Hyperaldosteronism 36
1036 MXD023 Mixed Cell Type Cancer 33
1037 c THY084 Thyrotoxic Periodic Paralysis 1 33
1038 ATM061 Autoimmune Polyglandular Syndrome Type 3 33
1039 c THY083 Thyrotoxic Periodic Paralysis 2 30
1040 APC005 Apocrine Sweat Gland Neoplasm 29
1041 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 25
1042 ECC008 Eccrine Sweat Gland Neoplasm 25
1043 ACN007 Acinar Cell Cystadenocarcinoma 24
1044 ECC001 Eccrine Papillary Adenocarcinoma 24
1045 ECC007 Eccrine Sweat Gland Cancer 23
1046 STR088 Stratton-Parker Syndrome 23
1047 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 20
1048 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
1049 MCP007 Mucoepidermoid Thyroid Carcinoma 17
1050 MLT005 Multicentric Papillary Thyroid Carcinoma 15
1051 TLL001 Tall Cell Variant Papillary Carcinoma 13
1052 c THY119 Thyrotoxic Periodic Paralysis 3 11
1053 CLM001 Columnar Cell Variant Papillary Carcinoma 9
1054 PST034 Posterior Pituitary Gland Neoplasm 9
1055 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
1056 FRS005 Fraser Jequier Chen Syndrome 4
1057 P LVR013 Liver Disease 77
1058 P HPT021 Hepatitis 74
1059 c HMC039 Hemochromatosis, Type 1 74
1060 P BDY004 Body Mass Index Quantitative Trait Locus 11 74
1061 c HPT073 Hepatitis C Virus 73
1062 P ADN016 Adenocarcinoma 71
1063 c HPT016 Hepatitis B 70
1064 c HPT001 Hepatitis C 69
1065 P THY023 Thymoma 68
1066 P DBT009 Diabetes Mellitus 67
1067 c HPT003 Hepatitis a 66
1068 c OVR114 Ovarian Cancer 1 66
1069 c ATM011 Autoimmune Hepatitis 66
1070 OVR029 Ovarian Hyperstimulation Syndrome 65
1071 P SHW006 Shwachman-Diamond Syndrome 1 64
1072 HYP056 Hypoglycemia 64
1073 ALC006 Alcoholic Hepatitis 62
1074 ECT006 Ectodermal Dysplasia 62
1075 DBT084 Diabetes Mellitus, Ketosis-Prone 62
1076 P MTR004 Maturity-Onset Diabetes of the Young 61
1077 P HYP724 Hyperlipoproteinemia, Type Iii 61
1078 DNH001 Donohue Syndrome 60
1079 c PRM005 Primary Hyperparathyroidism 60
1080 c VRL010 Viral Hepatitis 60
1081 c MYT020 Myotonic Dystrophy 2 59
1082 HYP730 Hypogonadotropic Hypogonadism 58
1083 SMT008 Smith-Magenis Syndrome 58
1084 P VND007 Van Der Woude Syndrome 1 57
1085 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
1086 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1087 c HPT007 Hepatitis E 56
1088 P HMG032 Hemoglobin H Disease 55
1089 ADN009 Adenosquamous Carcinoma 54
1090 P PRM006 Primary Biliary Cirrhosis 54
1091 c PSD066 Pseudohypoparathyroidism, Type Ib 54
1092 P ACQ022 Acquired Generalized Lipodystrophy 54
1093 c ACT134 Acute Liver Failure 53
1094 OVR059 Ovary Adenocarcinoma 53
1095 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
1096 ALC009 Alcoholic Liver Cirrhosis 52
1097 ALV002 Alveolar Echinococcosis 52
1098 P MYT002 Myotonic Dystrophy 52
1099 c CNG012 Congenital Generalized Lipodystrophy 52
1100 MNN042 Meningioma, Radiation-Induced 52
1101 c MCR256 Microphthalmia, Syndromic 9 52
1102 c HPT015 Hepatitis D 52
1103 P FML012 Familial Partial Lipodystrophy 52
1104 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 52
1105 OVR012 Ovarian Serous Cystadenocarcinoma 52
1106 GLC036 Glucagonoma 51
1107 THY022 Thymic Carcinoma 51
1108 HYP732 Hyperalphalipoproteinemia 1 51
1109 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
1110 P GND004 Gonadal Dysgenesis 51
1111 TST044 Testicular Torsion 51
1112 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 51
1113 FSH001 Fish-Eye Disease 51
1114 c HYP740 Hyperlipoproteinemia, Type V 51
1115 P PSD015 Pseudohypoparathyroidism 51
1116 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1117 ONC007 Oncocytoma 49
1118 HMZ003 Homozygous Familial Hypercholesterolemia 49
1119 c BDY007 Body Mass Index Quantitative Trait Locus 1 48
1120 c INF145 Infantile Liver Failure Syndrome 1 48
1121 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 48
1122 c HMC010 Hemochromatosis, Type 3 48
1123 P NNT009 Neonatal Diabetes Mellitus 48
1124 DWR001 Dwarfism 48
1125 P PRS049 Persistent Mullerian Duct Syndrome 47
1126 c HYP739 Hyperlipoproteinemia, Type Iv 47
1127 P LYD001 Leydig Cell Tumor 47
1128 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 47
1129 c ADN012 Adenocarcinoma in Situ 46
1130 c HMC009 Hemochromatosis Type 2 46
1131 OVR060 Ovary Epithelial Cancer 46
1132 c HMC035 Hemochromatosis, Type 4 46
1133 P PSD003 Pseudohypoaldosteronism 46
1134 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 46
1135 GLC106 Glucocorticoid Resistance, Generalized 46
1136 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 46
1137 c LPD019 Lipodystrophy, Partial, Acquired 45
1138 P LSS036 Lissencephaly, X-Linked, 1 45
1139 HPT067 Hepatocellular Adenoma 45
1140 WDM005 Wiedemann-Rautenstrauch Syndrome 44
1141 OST004 Osteitis Fibrosa 44
1142 P OVR106 Ovarian Clear Cell Carcinoma 44
1143 c TRN032 Transient Neonatal Diabetes Mellitus 44
1144 P JVN024 Juvenile Hereditary Hemochromatosis 44
1145 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 44
1146 c BDY020 Body Mass Index Quantitative Trait Locus 19 43
1147 P PRC038 Precocious Puberty, Male-Limited 43
1148 THY009 Thyroid Lymphoma 43
1149 GST030 Gastrinoma 43
1150 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
1151 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 43
1152 c HMG003 Hemoglobin E Disease 43
1153 c BDY019 Body Mass Index Quantitative Trait Locus 18 43
1154 c HMG001 Hemoglobin C Disease 43
1155 END002 Endometrioid Ovary Carcinoma 42
1156 c HYP768 Hyperlipoproteinemia, Type I 42
1157 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 42
1158 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 42
1159 46X012 46,xy Partial Gonadal Dysgenesis 41
1160 DRG002 Drug-Induced Hepatitis 41
1161 c BDY017 Body Mass Index Quantitative Trait Locus 14 41
1162 c MCR263 Microphthalmia, Syndromic 1 41
1163 OVR034 Ovarian Clear Cell Adenocarcinoma 41
1164 c BDY011 Body Mass Index Quantitative Trait Locus 10 41
1165 c HMC021 Hemochromatosis, Type 2a 41
1166 c MCR261 Microphthalmia, Syndromic 2 41
1167 c PSD117 Pseudohypoparathyroidism, Type Ic 41
1168 OVR105 Ovarian Serous Carcinoma 41
1169 LPT006 Leptin Receptor Deficiency 40
1170 TRP009 Triple X Syndrome 40
1171 LPT014 Leptin Deficiency or Dysfunction 40
1172 WRT003 Warthin Tumor 40
1173 P MCR241 Microphthalmia, Syndromic 3 40
1174 OVR123 Ovarian Seromucinous Carcinoma 39
1175 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 39
1176 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 39
1177 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
1178 c BLR024 Biliary Cirrhosis, Primary, 1 39
1179 c PSD092 Pseudohypoaldosteronism, Type Iie 39
1180 HPT008 Hepatic Tuberculosis 38
1181 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 38
1182 P SRT003 Sertoli-Leydig Cell Tumor 38
1183 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 38
1184 HMN004 Hemangioma of Liver 38
1185 LCT003 Lactocele 37
1186 HRT040 Hirata Disease 37
1187 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
1188 CHR075 Choriocarcinoma of Ovary 37
1189 LMB008 Limb-Mammary Syndrome 37
1190 EST007 Estrogen Resistance 37
1191 49X002 49,xxxxy Syndrome 36
1192 LCL022 Localized Lipodystrophy 36
1193 HYP610 Hypothyroidism, Central, and Testicular Enlargement 36
1194 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
1195 PLR023 Polr3-Related Leukodystrophy 36
1196 BSM002 Bosma Arhinia Microphthalmia Syndrome 35
1197 SCH071 Schaaf-Yang Syndrome 35
1198 TMP012 Temple Syndrome 35
1199 TST020 Testis Seminoma 35
1200 OVR047 Ovarian Cystadenocarcinoma 34
1201 48X003 48,xxyy Syndrome 34
1202 OVR054 Ovarian Mucinous Neoplasm 34
1203 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 34
1204 P HRD022 Hordeolum 34
1205 RTN072 Retinohepatoendocrinologic Syndrome 33
1206 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 33
1207 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 33
1208 c PSD104 Pseudohypoparathyroidism, Type Ii 33
1209 THY108 Thymic Neuroendocrine Tumor 33
1210 c PSD090 Pseudohypoaldosteronism, Type Iia 33
1211 OVR013 Ovarian Mucinous Cystadenocarcinoma 32
1212 HPT081 Hepatic Infarction 32
1213 CHR525 Chromosome Xq26.3 Duplication Syndrome 32
1214 OVR061 Ovary Sarcoma 32
1215 c MLG072 Malignant Leydig Cell Tumor 32
1216 c LSS037 Lissencephaly, X-Linked, 2 32
1217 c HMC034 Hemochromatosis, Type 5 32
1218 c MCR251 Microphthalmia, Syndromic 6 31
1219 PRP098 Proprotein Convertase 1/3 Deficiency 31
1220 c FML157 Familial Male-Limited Precocious Puberty 31
1221 c INV003 Invasive Malignant Thymoma 31
1222 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31
1223 OVR104 Ovarian Melanoma 31
1224 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 31
1225 PTT016 Patterson Pseudoleprechaunism Syndrome 31
1226 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
1227 BRN137 Bronchial Neuroendocrine Tumor 30
1228 FTL005 Fetal Adenoma 30
1229 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 30
1230 BCH003 Boucher-Neuhauser Syndrome 29
1231 OVR011 Ovarian Mucinous Adenocarcinoma 29
1232 OVR041 Ovarian Benign Neoplasm 29
1233 c BDY005 Body Mass Index Quantitative Trait Locus 9 29
1234 OVR062 Ovary Serous Adenocarcinoma 29
1235 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
1236 MCH011 Meacham Syndrome 29
1237 CRT020 Cortisone Reductase Deficiency 29
1238 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 29
1239 KPP002 Keppen-Lubinsky Syndrome 28
1240 THY024 Thymus Adenocarcinoma 28
1241 c TYP035 Type 1 Diabetes Mellitus 11 28
1242 c BDY015 Body Mass Index Quantitative Trait Locus 12 28
1243 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 28
1244 OVR021 Ovarian Lymphoma 28
1245 P TST016 Testicular Granulosa Cell Tumor 28
1246 MXD014 Mixed Ductal-Endocrine Carcinoma 28
1247 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 28
1248 MLL011 Mullerian Aplasia and Hyperandrogenism 28
1249 END036 Endocrine Organ Benign Neoplasm 28
1250 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
1251 c MCR245 Microphthalmia, Syndromic 8 28
1252 GGN004 Gigantomastia 27
1253 c BDY010 Body Mass Index Quantitative Trait Locus 4 27
1254 c BDY012 Body Mass Index Quantitative Trait Locus 7 27
1255 c BDY006 Body Mass Index Quantitative Trait Locus 8 27
1256 TTR013 Tetrasomy X 27
1257 c LVR030 Liver Failure, Infantile, Transient 27
1258 c TYP037 Type 1 Diabetes Mellitus 13 27
1259 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
1260 TST007 Testicular Infarct 27
1261 LVR004 Liver Inflammatory Pseudotumor 27
1262 EPT007 Epithelial Malignant Thymoma 27
1263 SPR018 Spermatocytoma 27
1264 PRD001 Predominantly Cortical Thymoma 26
1265 PGD001 Pagod Syndrome 26
1266 c TYP033 Type 1 Diabetes Mellitus 7 26
1267 OVR015 Ovarian Mixed Germ Cell Neoplasm 26
1268 c MCR252 Microphthalmia, Syndromic 5 26
1269 c PSD093 Pseudohypoaldosteronism, Type Iid 26
1270 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
1271 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
1272 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 25
1273 c MCR212 Microphthalmia, Syndromic 12 25
1274 TST010 Testicular Spermatocytic Seminoma 25
1275 c TYP031 Type 1 Diabetes Mellitus 5 25
1276 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
1277 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1278 c TYP032 Type 1 Diabetes Mellitus 6 25
1279 LVR005 Liver Leiomyoma 24
1280 c HMG004 Hemoglobin D Disease 24
1281 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1282 c TYP028 Type 1 Diabetes Mellitus 2 24
1283 c TYP027 Type 1 Diabetes Mellitus 10 24
1284 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 24
1285 HYP344 Hyperthyroidism, Familial Gestational 24
1286 c HMG029 Hemoglobin Se Disease 24
1287 GNT043 Genitopalatocardiac Syndrome 24
1288 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
1289 c MCR228 Microphthalmia, Syndromic 13 24
1290 NTM001 Nutmeg Liver 23
1291 ANS010 Anus Adenocarcinoma 23
1292 48X002 48,xxxy Syndrome 23
1293 PDT022 Pediatric Ovarian Germ Cell Tumor 23
1294 MTC025 Mitochondrial Myopathy with Diabetes 23
1295 c HMC019 Hemochromatosis, Type 2b 23
1296 c TYP036 Type 1 Diabetes Mellitus 12 23
1297 OVR027 Ovarian Squamous Cell Carcinoma 23
1298 c TYP038 Type 1 Diabetes Mellitus 15 23
1299 c SHW007 Shwachman-Diamond Syndrome 2 23
1300 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 22
1301 c MCR262 Microphthalmia, Syndromic 4 22
1302 GRW032 Growth Factors, Combined Defect of 22
1303 ADL056 Adult Pineal Parenchymal Tumor 22
1304 c MCR217 Microphthalmia, Syndromic 11 22
1305 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
1306 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 21
1307 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
1308 c INF138 Infantile Liver Failure Syndrome 2 21
1309 GLC043 Glucocorticoid Deficiency 2 21
1310 BNG086 Bangstad Syndrome 21
1311 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1312 PNL021 Pineal Cyst 21
1313 INS009 Insulin-Resistance Type B 21
1314 c MCR312 Microphthalmia, Syndromic 10 20
1315 c VND004 Van Der Woude Syndrome 2 20
1316 c TYP039 Type 1 Diabetes Mellitus 17 19
1317 c TYP034 Type 1 Diabetes Mellitus 8 19
1318 c HYP819 Hyperlipoproteinemia, Type Id 19
1319 c TRN053 Transient Pseudohypoaldosteronism 19
1320 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
1321 PNB003 Pineoblastoma, Childhood 19
1322 c PSD068 Pseudohypoaldosteronism, Type Iic 19
1323 MXD007 Mixed Hepatoblastoma 19
1324 PNL009 Pineal Region Choriocarcinoma 18
1325 c TYP040 Type 1 Diabetes Mellitus 18 18
1326 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
1327 c PSD094 Pseudohypoaldosteronism, Type Iib 18
1328 TST005 Testicular Gonadoblastoma 18
1329 OVR033 Ovary Papillary Carcinoma 18
1330 TST035 Testicular Anomalies with or Without Congenital Heart Disease 18
1331 SBC005 Subacute Lymphocytic Thyroiditis 18
1332 LVR010 Liver Leiomyosarcoma 18
1333 NRN032 Neuroendocrine Tumor of Anal Canal 18
1334 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
1335 THY006 Thymus Lymphoma 17
1336 c BLR016 Biliary Cirrhosis, Primary, 2 17
1337 OVR103 Ovarian Endometrial Cancer 17
1338 OVR026 Ovary Transitional Cell Carcinoma 17
1339 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
1340 c TYP029 Type 1 Diabetes Mellitus 3 16
1341 TST040 Testicular Trophoblastic Tumor 16
1342 PPL015 Papillary Thymic Adenocarcinoma 16
1343 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
1344 c TYP030 Type 1 Diabetes Mellitus 4 16
1345 BMF002 Bamforth Syndrome 16
1346 OVR040 Ovarian Clear Cell Cystadenocarcinoma 15
1347 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
1348 XLN112 X-Linked Intellectual Disability, Cilliers Type 15
1349 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
1350 LVR009 Liver Rhabdomyosarcoma 14
1351 THY017 Thymus Sarcomatoid Carcinoma 14
1352 TST012 Testicular Fibroma 14
1353 THY010 Thymus Mucoepidermoid Carcinoma 14
1354 c INT047 Internal Hordeolum 14
1355 GLL034 Gallbladder Neuroendocrine Tumor 14
1356 TST019 Testis Sarcoma 14
1357 LVR001 Liver Lipoma 13
1358 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
1359 INF124 Infundibulo-Neurohypophysitis 13
1360 GST035 Gestational Ovarian Choriocarcinoma 13
1361 c TFR001 Tfr2-Related Hereditary Hemochromatosis 13
1362 HYP053 Hypercalcemic Type Ovarian Small Cell Carcinoma 13
1363 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 13
1364 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
1365 c BLR017 Biliary Cirrhosis, Primary, 3 13
1366 THY011 Thymus Basaloid Carcinoma 12
1367 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 12
1368 OBS060 Obesity Due to Sim1 Deficiency 12
1369 NNN002 Noninvasive Malignant Thymoma 12
1370 NRH002 Neurohypophysis Granular Cell Tumor 12
1371 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
1372 OVR020 Ovarian Wilms' Cancer 11
1373 c THY018 Thymus Clear Cell Carcinoma 11
1374 SCN001 Secondary Hyperparathyroidism of Renal Origin 11
1375 c BLR025 Biliary Cirrhosis, Primary, 4 11
1376 c BDY013 Body Mass Index Quantitative Trait Locus 5 11
1377 OVR016 Ovarian Endometrioid Stromal Sarcoma 11
1378 MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 11
1379 c THY008 Thymus Small Cell Carcinoma 11
1380 c BLR026 Biliary Cirrhosis, Primary, 5 10
1381 MYT025 Myotubular Myopathy with Abnormal Genital Development 10
1382 c BDY009 Body Mass Index Quantitative Trait Locus 3 10
1383 c BDY014 Body Mass Index Quantitative Trait Locus 6 10
1384 c BDY008 Body Mass Index Quantitative Trait Locus 2 10
1385 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 9
1386 TST041 Testicular Germ Cell Tumor Non-Seminomatous 9
1387 BSP005 Basophilic Adenocarcinoma 9
1388 OVR055 Ovarian Papillary Neoplasm 9
1389 c BDY016 Body Mass Index Quantitative Trait Locus 13 9
1390 THY012 Thymus Adenosquamous Carcinoma 9
1391 c BDY018 Body Mass Index Quantitative Trait Locus 15 9
1392 PNL010 Pineal Region Yolk Sac Tumor 9
1393 MLG017 Malignant Tumor of Undescended Testis 9
1394 PPL010 Papillary Follicular Thyroid Adenocarcinoma 9
1395 CHL008 Childhood Ovarian Endodermal Sinus Tumor 9
1396 CHL038 Childhood Choriocarcinoma of the Ovary 8
1397 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
1398 TST013 Testicular Thecoma 8
1399 LVR008 Liver Fibrosarcoma 8
1400 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
1401 PRP104 Prepubertal Anorexia Nervosa 8
1402 c ADL043 Adult Type Testicular Granulosa Cell Tumor 8
1403 NNN001 Nonencapsulated Sclerosing Carcinoma 7
1404 LVR007 Liver Fibroma 7
1405 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 7
1406 RTV002 Rete Ovarii Adenocarcinoma 7
1407 c MLG021 Malignant Sertoli-Leydig Cell Tumor 7
1408 IDN004 Iodine Antenatal Exposure 7
1409 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1410 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1411 TST002 Testicular Brenner Tumor 6
1412 EPD012 Epididymal Neoplasm 6
1413 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1414 OVR028 Ovarian Squamous Cell Neoplasm 6
1415 TRB001 Trabecular Follicular Adenocarcinoma 6
1416 GST003 Gastrin Secretion Abnormality 6
1417 SLD001 Solid Pattern Testicular Yolk Sac Tumor 6
1418 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 6
1419 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 6
1420 PSD013 Pseudoglandular Variant Testicular Seminoma 6
1421 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 6
1422 CRB003 Cribriform Variant Testicular Seminoma 6
1423 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 6
1424 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 6
1425 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 6
1426 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
1427 MCR005 Macrotrabecular Hepatoblastoma 6
1428 TBL005 Tubular Variant Testicular Seminoma 6
1429 HYP175 Hyper-Reninism 5
1430 FML019 Familiar Ovarian Carcinoma 5
1431 TST042 Testicular Pure Germ Cell Tumor 5
1432 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 5
1433 NNR001 Non-Renal Secondary Hyperparathyroidism 5
1434 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 5
1435 SMT003 Somatostatinoma 52
1436 ADN011 Adenoid Cystic Carcinoma 67
1437 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
1438 VPM001 Vipoma 52
1439 P THY102 Thyroid Cancer, Nonmedullary, 2 64
1440 ZLL002 Zollinger-Ellison Syndrome 59
1441 NRN004 Neuroendocrine Tumor 56
1442 c HYP731 Hyperaldosteronism, Familial, Type I 56
1443 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
1444 c THY100 Thyroid Cancer, Nonmedullary, 4 17
1445 c THY101 Thyroid Cancer, Nonmedullary, 5 15
1446 c THY117 Thyroid Cancer, Nonmedullary, 3 14
1447 HSH003 Hashimoto Thyroiditis 67
1448 PSD014 Pseudopseudohypoparathyroidism 56
1449 ALB001 Albright's Hereditary Osteodystrophy 55
1450 c HYP600 Hyperaldosteronism, Familial, Type Ii 36
1451 P HYP802 Hypocalcemia, Autosomal Dominant 1 66
1452 ARM001 Aromatase Deficiency 52
1453 HDR006 Hidradenocarcinoma 48
1454 IMM177 Immunodeficiency 54 22
1455 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
1456 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 46
1457 FML075 Familial Isolated Hyperparathyroidism 45
1458 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 42
1459 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1460 SPT019 Septo-Optic Dysplasia Spectrum 32
1461 CRN036 Craniopharyngioma 68
1462 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 67
1463 c MLT160 Multiple Endocrine Neoplasia, Type Iia 67
1464 AND002 Androgen Insensitivity Syndrome 62
1465 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
1466 P BRT004 Bartter Disease 54
1467 P 46X052 46,xx Sex Reversal 1 52
1468 c LPD021 Lipodystrophy, Familial Partial, Type 3 50
1469 NLS001 Nelson Syndrome 48
1470 c BRT042 Bartter Syndrome, Type 3 44
1471 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
1472 ADR038 Adermatoglyphia 41
1473 P HYP599 Hypoparathyroidism, Familial Isolated 37
1474 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 34
1475 WTK002 Witkop Syndrome 33
1476 c HYP438 Hyperaldosteronism, Familial, Type Iii 29
1477 FML211 Familial Papillary or Follicular Thyroid Carcinoma 22
1478 c BRT024 Bartter Syndrome Type 4 21
1479 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 14
1480 P OVR042 Ovarian Cancer 83
1481 SCK003 Sickle Cell Anemia 75
1482 c MYT021 Myotonic Dystrophy 1 72
1483 PRT036 Peritonitis 67
1484 P HLP001 Holoprosencephaly 65
1485 ANP031 Anaplastic Thyroid Cancer 65
1486 GLC006 Galactosemia 65
1487 CLR108 Colorectal Adenoma 64
1488 PLL001 Pallister-Hall Syndrome 63
1489 P PRD006 Prader-Willi Syndrome 62
1490 DGR001 Digeorge Syndrome 62
1491 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
1492 DBT083 Diabetes Mellitus, Permanent Neonatal 61
1493 c PRG018 Paragangliomas 1 61
1494 P SHR029 Short Syndrome 57
1495 HPT022 Hepatoblastoma 56
1496 CLS005 Clouston Syndrome 55
1497 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 55
1498 APP015 Apparent Mineralocorticoid Excess 54
1499 DNY001 Denys-Drash Syndrome 53
1500 RNL051 Renal Cysts and Diabetes Syndrome 53
1501 NRN001 Neuroendocrine Carcinoma 53
1502 PSD021 Pseudovaginal Perineoscrotal Hypospadias 53
1503 END031 Endometrial Stromal Sarcoma 52
1504 OPS006 Opsoclonus-Myoclonus Syndrome 52
1505 CRC014 Carcinoid Tumors, Intestinal 51
1506 PRT018 Portal Vein Thrombosis 51
1507 c HLP023 Holoprosencephaly 1 50
1508 PTT041 Pituitary Stalk Interruption Syndrome 49
1509 RPP001 Rapp-Hodgkin Syndrome 49
1510 CYS008 Cystic Echinococcosis 49
1511 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 49
1512 CMP034 Complete Androgen Insensitivity Syndrome 48
1513 LVR002 Liver Angiosarcoma 48
1514 c 46X001 46 Xy Gonadal Dysgenesis 48
1515 c RBN021 Rubinstein-Taybi Syndrome 1 48
1516 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 48
1517 CLN003 Clonorchiasis 48
1518 PGT003 Paget Disease, Extramammary 47
1519 HPT025 Hepatic Lipase Deficiency 47
1520 P MTH008 Methylmalonic Acidemia 47
1521 LRN001 Laurence-Moon Syndrome 46
1522 FML091 Familial Tumoral Calcinosis 46
1523 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 46
1524 CRN055 Carney Triad 45
1525 CHN054 Chondrodysplasia, Blomstrand Type 45
1526 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 44
1527 c SHR030 Short Qt Syndrome 44
1528 HYP835 Hypothalamic Obesity 44
1529 P TST026 Testicular Germ Cell Cancer 43
1530 PRG008 Paragonimiasis 43
1531 OVR112 Ovarian Germ Cell Cancer 42
1532 P HYP776 Hyperparathyroidism, Neonatal Severe 42
1533 TST004 Testicular Lymphoma 42
1534 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 41
1535 OVR050 Ovarian Embryonal Carcinoma 41
1536 ANR018 Anorchia 40
1537 ARC007 Arachnoid Cysts 40
1538 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 40
1539 c HLP024 Holoprosencephaly 2 40
1540 ARM004 Aromatase Excess Syndrome 39
1541 LYM043 Lymphocytic Hypophysitis 39
1542 c HLP029 Holoprosencephaly 4 39
1543 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 39
1544 c HLP026 Holoprosencephaly 3 38
1545 c TST017 Testicular Malignant Germ Cell Cancer 38
1546 PLS002 Peliosis Hepatis 38
1547 HPT020 Hepatic Vascular Disease 38
1548 APL017 Apolipoprotein C-Ii Deficiency 38
1549 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 37
1550 GBL002 Goblet Cell Carcinoid 37
1551 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 37
1552 DNC004 Diencephalic Syndrome 37
1553 P CNT037 Central Nervous System Germinoma 35
1554 OVR044 Ovarian Carcinosarcoma 35
1555 c OVR058 Ovarian Small Cell Carcinoma 35
1556 P CLS054 Classic Ehlers-Danlos Syndrome 35
1557 TST003 Testicular Leukemia 35
1558 P PRR025 Perrault Syndrome 34
1559 KRK001 Krukenberg Carcinoma 34
1560 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1561 P TST001 Testicular Leydig Cell Tumor 34
1562 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 33
1563 DDN002 Duodenal Gastrinoma 33
1564 P TST048 Testicular Sex Cord-Stromal Neoplasm 33
1565 c FML294 Familial Short Qt Syndrome 33
1566 c PRR020 Perrault Syndrome 1 33
1567 c HLP028 Holoprosencephaly 5 32
1568 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 32
1569 c KNN009 Kenny-Caffey Syndrome, Type 1 32
1570 STY001 Satoyoshi Syndrome 31
1571 5LP001 5-Alpha Reductase Deficiency 30
1572 c KNN007 Kenny-Caffey Syndrome, Type 2 30
1573 LVR014 Liver Sarcoma 29
1574 OPT032 Optic Pathway Glioma 29
1575 FTL062 Fetal Iodine Deficiency Disorder 29
1576 NRN045 Neuroendocrine Neoplasm of Appendix 29
1577 NST002 Nestor-Guillermo Progeria Syndrome 29
1578 MLG078 Malignant Pineal Area Germ Cell Neoplasm 29
1579 CRT039 Corticosterone Methyloxidase Type I Deficiency 28
1580 LVR031 Liver Benign Neoplasm 28
1581 URC004 Urachal Cancer 28
1582 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
1583 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 27
1584 THY096 Thyroid Carcinoma, Hurthle Cell 27
1585 c PRR026 Perrault Syndrome 5 26
1586 c HLP025 Holoprosencephaly 9 25
1587 ARD001 Aredyld 25
1588 SCL007 Sclerosing Hepatic Carcinoma 25
1589 HMT001 Hematocele of Tunica Vaginalis Testis 24
1590 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 24
1591 c HLP016 Holoprosencephaly 11 24
1592 RCT005 Rectum Neuroendocrine Neoplasm 23
1593 HYP683 Hypogonadism-Cataract Syndrome 23
1594 c HLP027 Holoprosencephaly 7 23
1595 DFN313 Deafness-Hypogonadism Syndrome 23
1596 c SHR032 Short Qt Syndrome 2 22
1597 ILL008 Ileal Neuroendocrine Tumor 22
1598 WBB001 Webb-Dattani Syndrome 22
1599 c PRR024 Perrault Syndrome 3 22
1600 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 22
1601 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
1602 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1603 c SHR031 Short Qt Syndrome 1 22
1604 c HLP022 Holoprosencephaly 8 22
1605 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 21
1606 c PRR021 Perrault Syndrome 4 21
1607 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 20
1608 THY106 Thyroglossal Duct Cyst, Familial 20
1609 LVR006 Liver Lymphoma 20
1610 c SHR033 Short Qt Syndrome 3 20
1611 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
1612 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 19
1613 MRB006 Morbid Obesity and Spermatogenic Failure 19
1614 c PRR022 Perrault Syndrome 2 18
1615 c PRR033 Perrault Syndrome 6 18
1616 HYD021 Hydrocephalus Obesity Hypogonadism 17
1617 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1618 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
1619 OVR004 Ovary Neuroendocrine Neoplasm 17
1620 THY027 Thymus Squamous Cell Carcinoma 17
1621 c HYP831 Hyperparathyroidism, Transient Neonatal 17
1622 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 16
1623 MNT030 Mental Retardation Syndrome, Belgian Type 16
1624 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
1625 NRC007 Neuroectodermal Endocrine Syndrome 15
1626 c NNS019 Nonsyndromic Holoprosencephaly 15
1627 PRS017 Prostate Neuroendocrine Neoplasm 14
1628 HPT011 Hepatocellular Clear Cell Carcinoma 13
1629 THY092 Thymic Neuroendocrine Carcinoma 13
1630 c HLP021 Holoprosencephaly 6 13
1631 P THY005 Thymus Large Cell Carcinoma 13
1632 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 12
1633 MDD017 Middle Ear Neuroendocrine Tumor 11
1634 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 10
1635 LVR003 Liver Carcinoma in Situ 10
1636 PDT023 Pediatric Testicular Germ Cell Tumor 10
1637 CHL026 Childhood Ovarian Embryonal Carcinoma 9
1638 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
1639 c ADL036 Adult Central Nervous System Germinoma 7
1640 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1641 TST009 Testis Refractory Cancer 7
1642 CHL064 Childhood Testicular Mixed Germ Cell Tumor 7
1643 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 5
1644 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 5
1645 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1646 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1647 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
1648 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
1649 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 4
1650 DYS002 Dysplastic Nevus Syndrome 37
1651 c THY109 Thyroid Cancer, Nonmedullary, 1 60
1652 THY111 Thyroid Carcinoma, Familial Medullary 71
1653 P BRS047 Breast Cancer 100
1654 c INF023 Inflammatory Breast Carcinoma 57
1655 c BRS049 Breast Carcinoma in Situ 56
1656 c SPR009 Sporadic Breast Cancer 47
1657 IGG007 Igg4-Related Disease 47
1658 CYL004 Cylindromatosis, Familial 33
1659 P HPT023 Hepatocellular Carcinoma 97
1660 c BTT014 Beta-Thalassemia 73
1661 WLS001 Wilson Disease 71
1662 P MYC084 Mycobacterium Tuberculosis 1 68
1663 ABT001 Abetalipoproteinemia 67
1664 CHR072 Chordoma 65
1665 P THL005 Thalassemia 65
1666 STF001 Stiff-Person Syndrome 64
1667 HYP020 Hyperprolactinemia 64
1668 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64
1669 CRC006 Carcinoid Syndrome 62
1670 DBT087 Diabetes Insipidus, Neurohypophyseal 62
1671 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 62
1672 c ALP101 Alpha-Thalassemia 61
1673 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
1674 MRK001 Merkel Cell Carcinoma 60
1675 HYP190 Hypoalphalipoproteinemia, Primary 59
1676 HDR002 Hidradenitis Suppurativa 57
1677 c TYR012 Tyrosinemia, Type I 56
1678 FRS002 Frasier Syndrome 56
1679 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 56
1680 FBR086 Fibrolamellar Carcinoma 56
1681 ALS001 Alstrom Syndrome 55
1682 c GST103 Gastric Cancer, Hereditary Diffuse 55
1683 TST014 Testicular Cancer 55
1684 CHY002 Chylomicron Retention Disease 53
1685 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51
1686 P FML068 Familial Hypocalciuric Hypercalcemia 50
1687 THY025 Thymus Cancer 50
1688 HPT014 Hepatorenal Syndrome 49
1689 P TYR004 Tyrosinemia 49
1690 c ADL096 Adult Hepatocellular Carcinoma 48
1691 GLY014 Glycerol Kinase Deficiency 47
1692 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 47
1693 c TYR013 Tyrosinemia, Type Ii 47
1694 GST004 Gastric Neuroendocrine Neoplasm 46
1695 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 46
1696 ONC003 Oncogenic Osteomalacia 46
1697 BRK001 Brooke-Spiegler Syndrome 45
1698 TST018 Testicular Yolk Sac Tumor 45
1699 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 44
1700 c TYR011 Tyrosinemia, Type Iii 44
1701 c SML009 Small Intestine Adenocarcinoma 43
1702 P DFF019 Diffuse Gastric Cancer 43
1703 OPS001 Opisthorchiasis 42
1704 P LRG016 Large Intestine Adenocarcinoma 42
1705 MRT007 Martsolf Syndrome 41
1706 APP009 Appendix Adenocarcinoma 41
1707 PRG017 Paraganglioma and Gastric Stromal Sarcoma 40
1708 HYP737 Hyperhidrosis, Gustatory 38
1709 P PHS005 Peho Syndrome 38
1710 EMB006 Embryonal Testis Carcinoma 36
1711 ECC004 Eccrine Porocarcinoma 36
1712 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
1713 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
1714 MHM001 Mehmo Syndrome 33
1715 TST033 Testicular Regression Syndrome 32
1716 CHP002 Chops Syndrome 32
1717 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
1718 IMM179 Immunodeficiency 31c 29
1719 P FML168 Familial Isolated Pituitary Adenoma 28
1720 INT041 Intratubular Embryonal Carcinoma 28
1721 c PHL010 Peho-Like Syndrome 25
1722 CHR506 Choroideremia, Deafness, and Mental Retardation 25
1723 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 22
1724 NRN033 Neuroendocrine Tumor of the Colon 20
1725 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1726 LRY013 Laryngeal Neuroendocrine Tumor 16
1727 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1728 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 14
1729 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 14
1730 DGS008 Digestive System Melanoma 13
1731 c MYC055 Mycobacterium Tuberculosis 3 11
1732 CHL043 Childhood Embryonal Testis Carcinoma 9
1733 c MYC054 Mycobacterium Tuberculosis 2 9
1734 HPT017 Hepatic Osteogenic Sarcoma 9
1735 CHL048 Childhood Teratocarcinoma of the Testis 8
1736 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 7
1737 INS024 Insulin-Like Growth Factor I 83
1738 P KLL001 Kallmann Syndrome 64
1739 KRN002 Kearns-Sayre Syndrome 63
1740 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 63
1741 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 60
1742 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 60
1743 BDD001 Budd-Chiari Syndrome 60
1744 CMP005 Campomelic Dysplasia 58
1745 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1746 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 51
1747 AND020 Androgen Insensitivity, Partial 51
1748 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
1749 TXC011 Toxocariasis 42
1750 SML031 Small Cell Carcinoma of the Bladder 36
1751 DTH005 Diethylstilbestrol Syndrome 32
1752 MMS001 Momo Syndrome 30
1753 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 25
1754 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1755 c KLL008 Kallmann Syndrome 6 10
1756 c KLL005 Kallmann Syndrome 3 9
1757 c KLL006 Kallmann Syndrome 4 9
1758 c KLL007 Kallmann Syndrome 5 8



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