Endocrine Diseases Category (1354 diseases)


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

# Family MCID Name MIFTS
1 GRW015 Growth Hormone Deficiency, Isolated, Type Ia 41
2 ADR007 Adrenoleukodystrophy 72
3 ISL003 Isolated Growth Hormone Deficiency 52
4 ADR049 Adrenal Hypoplasia, Congenital 46
5 ADR005 Adrenal Carcinoma 54
6 AGM006 Agammaglobulinemia and Isolated Hormone Deficiency 37
7 c PNC108 Pancreatitis, Hereditary 57
8 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 28
9 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 49
10 LYD005 Leydig Cell Hypoplasia with Pseudohermaphroditism 31
11 GRW024 Growth Hormone Deficiency, Isolated, Type Ii 44
12 ADR008 Adrenal Adenoma 45
13 AGN005 Agenesis of the Dorsal Pancreas 21
14 CNG368 Congenital Adrenal Hyperplasia 63
15 ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 35
16 DSR005 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase 29
17 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 44
18 ADR012 Adrenal Gland Disease 48
19 PTT047 Pituitary Hormone Deficiency, Combined, 3 30
20 P ADD001 Addison's Disease 62
21 GRW016 Growth Hormone Deficiency, Isolated, Type Ib 41
22 PTT044 Pituitary Hormone Deficiency, Combined, 4 30
23 PNC048 Pancreatic Lipase Deficiency 30
24 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 15
25 LRN004 Laron Dwarfism 59
26 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
27 ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 49
28 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 40
29 SWT002 Sweat Gland Cancer 38
30 PRR005 Paraurethral Gland Cancer 10
31 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 15
32 P SLV002 Salivary Gland Cancer 60
33 LPD011 Lipoid Adrenal Hyperplasia 46
34 GNR008 Generalized Resistance to Thyroid Hormone 33
35 P THY097 Thyroid Hormone Resistance 53
36 P PTT050 Pituitary Adenoma, Growth Hormone-Secreting 48
37 17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 44
38 c ACT027 Acute Pancreatitis 56
39 NNT017 Neonatal Adrenoleukodystrophy 49
40 ADR021 Adrenocorticotropic Hormone Deficiency 46
41 PRS127 Pearson Marrow-Pancreas Syndrome 43
42 BRT045 Bartholin's Gland Benign Neoplasm 27
43 HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 29
44 LCR011 Lacrimal Gland Carcinoma 27
45 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 51
46 ADR014 Adrenal Medulla Cancer 35
47 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
48 SLV003 Salivary Gland Disease 44
49 CMB021 Combined Pituitary Hormone Deficiency 36
50 NNF001 Non-Functioning Pancreatic Endocrine Tumor 32
51 PTT045 Pituitary Hormone Deficiency, Combined, 1 30
52 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 13
53 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 27
54 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 25
55 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
56 IMG001 Image Syndrome 58
57 PNC092 Pancreatic Agenesis and Congenital Heart Defects 33
58 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 26
59 INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 9
60 P ACT150 Acute Adrenal Insufficiency 46
61 c ATM024 Autoimmune Pancreatitis 46
62 PNC118 Pancreas, Annular 36
63 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 32
64 ADN081 Adenomas, Salivary Gland Pleomorphic, Somatic 22
65 OST141 Osteoclastic Giant Cell Tumor of Pancreas 11
66 PNC029 Pancreatic Acth Hormone Producing Tumor 9
67 THY053 Thyroid Hormone Plasma Membrane Transport Defect 8
68 CYS001 Cystic Fibrosis 86
69 ACC005 Accessory Pancreas 21
70 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 19
71 ISL001 Islet Cell Tumor 48
72 ADR013 Adrenal Gland Hyperfunction 46
73 TRP008 Tropical Calcific Pancreatitis 44
74 P PNC045 Pancreatic Agenesis 43
75 HYP651 Hypogonadotropic Hypogonadism 23 with or Without Anosmia 33
76 KWR001 Kowarski Syndrome 21
77 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 16
78 PRT030 Parathyroid Gland Disease 47
79 GLC055 Glucocorticoid Deficiency, Due to Acth Unresponsiveness 33
80 TMR001 Tumor of Exocrine Pancreas 28
81 MXD003 Mixed Lacrimal Gland Cancer 26
82 SBM004 Submandibular Gland Cancer 17
83 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 16
84 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 9
85 FML065 Familial Hypersecretion of Adrenal Androgens 8
86 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 4
87 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 4
88 P PNC044 Pancreatitis 60
89 PTT046 Pituitary Hormone Deficiency, Combined, 2 54
90 APL002 Aplasia of Lacrimal and Salivary Glands 38
91 ADN008 Adenosquamous Pancreas Carcinoma 31
92 ADR003 Adrenal Neuroblastoma 28
93 PNC034 Pancreas Disease 55
94 P HYP083 Hypopituitarism 54
95 ADR041 Adrenal Cortical Adenoma 40
96 SLL001 Sialolithiasis 37
97 c PNC106 Pancreatic Agenesis 1 33
98 GRW023 Growth Hormone Deficiency, Isolated Partial 28
99 THY064 Thyroid Hormone Metabolism, Abnormal 25
100 SRK001 Serkal Syndrome 25
101 GRW026 Growth Hormone Insensitivity, Partial 24
102 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
103 THY069 Thyroid Hormone Resistance, Selective Pituitary 22
104 c THY068 Thyroid Hormone Resistance, Autosomal Recessive 21
105 INF148 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 20
106 SBL001 Sublingual Gland Cancer 15
107 FBR065 Fibrocalculous Pancreatopathy 12
108 c FML072 Familial Hypopituitarism 12
109 P MTR004 Maturity-Onset Diabetes of the Young 57
110 GRW007 Growth Hormone Deficiency 48
111 ECT093 Ectopic Cushing Syndrome 47
112 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 39
113 c MTR071 Maturity-Onset Diabetes of the Young 6 37
114 c SCN052 Secondary Adrenal Insufficiency 37
115 ALC005 Alcoholic Pancreatitis 36
116 PNC006 Pancreatic Somatostatinoma 35
117 PNC028 Pancreatic Steatorrhea 34
118 HRM003 Hormone Producing Pituitary Cancer 32
119 THY039 Thyrotropin-Releasing Hormone Deficiency 30
120 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 28
121 WTR001 Waterhouse-Friderichsen Syndrome 27
122 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 26
123 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 25
124 c MTR073 Maturity-Onset Diabetes of the Young, Type Viii 25
125 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 24
126 CNG298 Congenital Pancreatic Cyst 23
127 c MTR070 Maturity-Onset Diabetes of the Young, Type Vii 21
128 c MTR072 Maturity-Onset Diabetes of the Young, Type Ix 19
129 MCC003 Mucocele of Salivary Gland 19
130 c ATM064 Autoimmune Pancreatitis Type 1 18
131 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 16
132 SLD012 Solid Pseudopapillary Carcinoma of the Pancreas 15
133 OTX001 Otx2-Related Combined Pituitary Hormone Deficiency 11
134 HSX001 Hesx1-Related Combined Pituitary Hormone Deficiency 8
135 c CTR042 Ctrc-Related Hereditary Pancreatitis 8
136 c CFT002 Cftr-Related Hereditary Pancreatitis 8
137 c SPN164 Spink1-Related Hereditary Pancreatitis 8
138 LCR007 Lacrimal Gland Squamous Cell Carcinoma 7
139 c 17L002 17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 6
140 BRN010 Bronchial Mucus Gland Adenoma 6
141 NR5001 Nr5a1-Related 46,xy Dsd and 46,xy Cgd 5
142 ADR009 Adrenal Cortex Disease 39
143 ACR066 Acrodysostosis 1, with or Without Hormone Resistance 27
144 MTC096 Mitchell-Riley Syndrome 24
145 c PTT051 Pituitary Adenoma, Growth Hormone-Secreting 2 19
146 c PRM196 Premature Ovarian Failure 1 60
147 PTT009 Pituitary Gland Disease 46
148 PNC016 Pancreatic Cholera 38
149 SWT003 Sweat Gland Disease 38
150 HDR004 Hidradenoma 37
151 PRL010 Prolactin Producing Pituitary Tumor 36
152 PNC002 Pancreatic Mucinous Cystadenoma 35
153 c FML297 Familial Thyroid Dyshormonogenesis 33
154 c PRM093 Premature Ovarian Failure 7 32
155 BRT014 Bartholin's Duct Cyst 30
156 PNC104 Pancreatic and Cerebellar Agenesis 26
157 c PRM089 Premature Ovarian Failure 3 26
158 c PRM207 Premature Ovarian Failure 10 25
159 c PNC105 Pancreatic Agenesis 2 24
160 c PRM090 Premature Ovarian Failure 6 24
161 c PRM094 Premature Ovarian Failure 5 24
162 c PRM255 Premature Ovarian Failure 12 23
163 ADR040 Adrenal Gland Pheochromocytoma 22
164 P THY061 Thyroid Dyshormonogenesis 2a 22
165 CHL075 Cheilitis Glandularis 22
166 c PRM192 Premature Ovarian Failure 8 22
167 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 21
168 c PRM191 Premature Ovarian Failure 9 21
169 PRP074 Peripheral Resistance to Thyroid Hormones 20
170 c PRM254 Premature Ovarian Failure 11 20
171 c PRM253 Premature Ovarian Failure 13 19
172 P PRM091 Premature Ovarian Failure 2b 18
173 PNC009 Pancreas Sarcoma 16
174 c PRM176 Premature Ovarian Failure 2a 15
175 c SLV006 Salivary Gland Cancer, Adult 15
176 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
177 PTT006 Pituitary Adenoma 56
178 c PRX045 Peroxisome Biogenesis Disorder 1b 53
179 THY030 Thyroid Gland Disease 49
180 ACT087 Acth Deficiency 42
181 c RCR022 Recurrent Acute Pancreatitis 40
182 ADR010 Adrenal Cortical Hypofunction 37
183 PNC038 Pancreatic Cystadenocarcinoma 37
184 P HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 36
185 ADR001 Adrenal Rest Tumor 36
186 PNC027 Pancreatic Gastrinoma 36
187 c PRX059 Peroxisome Biogenesis Disorder 1a 36
188 INP001 Inappropriate Adh Syndrome 34
189 c ATM078 Autoimmune Addison Disease 31
190 c PRX060 Peroxisome Biogenesis Disorder 5a 31
191 c PRX063 Peroxisome Biogenesis Disorder 2a 30
192 c PRX065 Peroxisome Biogenesis Disorder 3a 30
193 46X020 46xy Sex Reversal 3 27
194 THY026 Thymus Gland Disease 27
195 c PRX054 Peroxisome Biogenesis Disorder 12a 27
196 c PRX055 Peroxisome Biogenesis Disorder 11a 27
197 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 26
198 c PRX057 Peroxisome Biogenesis Disorder 4a 26
199 c PRX091 Peroxisome Biogenesis Disorder 8a 26
200 c PRX048 Peroxisome Biogenesis Disorder 10a 25
201 c PRX053 Peroxisome Biogenesis Disorder 14b 25
202 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 25
203 c PRX046 Peroxisome Biogenesis Disorder 7a 25
204 c PRX052 Peroxisome Biogenesis Disorder 13a 25
205 P PRX051 Peroxisome Biogenesis Disorder 6a 25
206 GLN006 Glandular Cystitis 25
207 c PRX050 Peroxisome Biogenesis Disorder 9b 24
208 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 23
209 c PRX047 Peroxisome Biogenesis Disorder 5b 23
210 SQM020 Squamous Cell Carcinoma of the Pancreas 22
211 BRT012 Bartholin's Gland Adenoma 22
212 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 22
213 c PRX062 Peroxisome Biogenesis Disorder 8b 22
214 c PRX058 Peroxisome Biogenesis Disorder 4b 22
215 c PRX043 Peroxisome Biogenesis Disorder 6b 22
216 PNC014 Pancreatic Serous Cystadenocarcinoma 22
217 ADN072 Adenoma of Pancreas 22
218 c HYP354 Hypothyroidism, Congenital Nongoitrous, 5 21
219 DPL009 Duplication of the Pituitary Gland 21
220 c PRX056 Peroxisome Biogenesis Disorder 11b 21
221 c PRX068 Peroxisome Biogenesis Disorder 7b 20
222 PNC007 Pancreas Lymphoma 19
223 c PRX066 Peroxisome Biogenesis Disorder 3b 18
224 c PRX064 Peroxisome Biogenesis Disorder 2b 18
225 MCN020 Mucinous Cystadenocarcinoma of Pancreas 17
226 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 17
227 SBM003 Submandibular Gland Disease 17
228 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
229 c PRX089 Peroxisome Biogenesis Disorder 10b 16
230 ANL002 Anal Gland Neoplasm 16
231 SLV014 Salivary Gland Type Cancer of the Breast 16
232 PNC040 Pancreatic Delta Cell Neoplasm 15
233 CRC038 Carcinoma of Stomach, Salivary Gland Type 15
234 CRC037 Carcinoma of Esophagus, Salivary Gland Type 15
235 FNC012 Functioning Pancreatic Endocrine Tumor 15
236 c ATM063 Autoimmune Pancreatitis Type 2 15
237 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 13
238 RSS003 Resistance to Lh 12
239 BLT017 Bilateral Massive Adrenal Hemorrhage 11
240 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 11
241 CYT020 Cytomegalic Congenital Adrenal Hypoplasia 10
242 SLV007 Salivary Gland Cancer, Childhood 9
243 c CSH002 Cushing Syndrome, Familial 9
244 ANS020 Anos1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9
245 DWR011 Dwarfism, Low-Birth-Weight Type with Unresponsiveness to Growth Hormone 9
246 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 8
247 ADR006 Adrenal Gland Ganglioneuroblastoma 8
248 BRT003 Bartholin's Gland Small Cell Carcinoma 8
249 BRT007 Bartholin's Gland Squamous Cell Carcinoma 8
250 BRT010 Bartholin's Gland Transitional Cell Carcinoma 8
251 PRL002 Prolapse of Lacrimal Gland 7
252 FLL045 Follicular Cholangitis and Pancreatitis 7
253 CHL090 Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia 7
254 LHX001 Lhx3-Related Combined Pituitary Hormone Deficiency 7
255 PNC031 Pancreatic Foamy Gland Adenocarcinoma 6
256 LHX002 Lhx4-Related Combined Pituitary Hormone Deficiency 6
257 CHR002 Chronic Lacrimal Gland Enlargement 6
258 PNC037 Pancreatic Colloid Cystadenocarcinoma 6
259 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 6
260 PNC024 Pancreatic Colloid Cystadenoma 6
261 P 11B002 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 6
262 3BT002 3-Beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia 6
263 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
264 MNR001 Minor Vestibular Glands Adenoma 5
265 BRT009 Bartholin's Gland Adenomyoma 5
266 P1F001 Pou1f1-Related Combined Pituitary Hormone Deficiency 5
267 ISL092 Isolated Growth Hormone Deficiency, Ghrh-Related 4
268 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 3
269 PLM014 Pleomorphic Adenoma 50
270 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
271 SBC017 Sebaceous Gland Disease 34
272 MBM001 Meibomian Cyst 29
273 c THY071 Thyroid Dyshormonogenesis 1 24
274 ACR067 Acrodysostosis 2, with or Without Hormone Resistance 24
275 PTT043 Pituitary Hormone Deficiency, Combined, 6 19
276 PRT029 Parathyroid Adenoma 49
277 EXC002 Exocrine Pancreatic Insufficiency 42
278 EXT054 Extra-Adrenal Pheochromocytoma 34
279 PNC018 Pancreatic Serous Cystadenoma 32
280 PNC019 Pancreatoblastoma 30
281 CYT014 Cytochrome P450 Oxidoreductase Deficiency 26
282 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
283 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 20
284 GLN001 Glandular Tularemia 12
285 PNC055 Pancreatitis, Pediatric 11
286 CWP002 Cowper Gland Carcinoma 9
287 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 9
288 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 9
289 PRT100 Parotid Gland Adenoid Cystic Carcinoma 6
290 LTT003 Littre Gland Carcinoma 5
291 c HYP726 Hypercalcemia, Infantile, 1 47
292 END038 Endocrine Pancreas Disease 42
293 FNC007 Functioning Pituitary Adenoma 40
294 CHR034 Chromophobe Adenoma 39
295 TSH001 Tsh Producing Pituitary Tumor 39
296 FLL031 Follicular Adenoma 39
297 P HYP599 Hypoparathyroidism, Familial Isolated 36
298 SBC009 Sebaceous Adenoma 34
299 PPL001 Papillary Adenoma 33
300 CLL009 Colloid Carcinoma of the Pancreas 32
301 P PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 32
302 PPM002 Ppoma 27
303 APC005 Apocrine Sweat Gland Neoplasm 27
304 CHF001 Chief Cell Adenoma 25
305 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 24
306 PNC039 Pancreatic Cystadenoma 24
307 c THY063 Thyroid Dyshormonogenesis 4 23
308 VST005 Vestibular Gland Benign Neoplasm 22
309 ACR079 Acrodysostosis with Multiple Hormone Resistance 22
310 PNC049 Pancreatic Adenoma 20
311 c HYP712 Hypercalcemia, Infantile, 2 20
312 c THY056 Thyroid Dyshormonogenesis 3 19
313 c THY110 Thyroid Dyshormonogenesis 6 19
314 BSP001 Basophil Adenoma 19
315 GRF006 Grfoma 18
316 c THY062 Thyroid Dyshormonogenesis 5 17
317 PRM146 Primary Unilateral Adrenal Hyperplasia 17
318 MLG134 Malignant Epithelial Tumor of Salivary Glands 16
319 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15
320 P HYP237 Hypercalcemia, Infantile 15
321 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 15
322 VGN021 Vaginal Glandular Tumor 15
323 PNL001 Pineal Gland Astrocytoma 14
324 VLV037 Vulvar Glandular Tumor 14
325 FNC003 Functionless Pituitary Adenoma 14
326 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 14
327 PST034 Posterior Pituitary Gland Neoplasm 13
328 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 13
329 PNC017 Pancreatic Serous Cystic Neoplasm 13
330 c ATS125 Autosomal Recessive Infantile Hypercalcemia 12
331 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 11
332 ECT055 Ectopic Aldosterone-Producing Tumor 11
333 P PNC112 Pancreatic Cancer Susceptibility 4 11
334 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 10
335 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 10
336 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 9
337 c PNC062 Pancreatic Cancer Susceptibility 2 9
338 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 9
339 PRK053 Prokr2-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9
340 PRK054 Prok2-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9
341 c PNC061 Pancreatic Cancer Susceptibility 1 9
342 PNC101 Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or Without Tracheoesophageal Fistula 9
343 FGF011 Fgfr1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9
344 c PNC063 Pancreatic Cancer Susceptibility 3 9
345 FGF012 Fgf8-Related Isolated Gonadotropin-Releasing Hormone Deficiency 8
346 CHD005 Chd7-Related Isolated Gonadotropin-Releasing Hormone Deficiency 8
347 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 8
348 c PRS050 Prss1-Related Hereditary Pancreatitis 8
349 IGG012 Igg4-Related Submandibular Gland Disease 8
350 URT019 Urethral Gland Abscess 7
351 WDR001 Wdr11-Related Isolated Gonadotropin-Releasing Hormone Deficiency 7
352 THY057 Thyroid Hormonogenesis Defect I 7
353 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
354 MNT059 Mental Retardation, X-Linked, with Growth Hormone Deficiency 6
355 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 6
356 SMT017 Somatomammotropinoma 6
357 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
358 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
359 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
360 CNG138 Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency 6
361 ISL073 Isolated Growth Hormone Deficiency, Type Ib, Ghrhr-Related 6
362 KSS003 Kiss1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6
363 NSM001 Nsmf-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6
364 HS6001 Hs6st1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6
365 SM3001 Sema3a-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6
366 TC3001 Tac3-Related Isolated Gonadotropin-Releasing Hormone Deficiency 6
367 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
368 c PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 5
369 PNC026 Pancreatic Mucinous Ductal Ectasia 5
370 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
371 c CSR003 Casr-Related Familial Isolated Hypoparathyroidism 5
372 c GCM001 Gcm2-Related Familial Isolated Hypoparathyroidism 5
373 c PTH004 Pth-Related Familial Isolated Hypoparathyroidism 5
374 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
375 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
376 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 4
377 CNG338 Congenital Adrenal Hypoplasia of Maternal Cause 4
378 ISL018 Isolated X-Linked Adrenal Hypoplasia Congenita 4
379 ISL074 Isolated Growth Hormone Deficiency, Type Ib, Gh1-Related 3
380 KSS002 Kiss1r-Related Isolated Gonadotropin-Releasing Hormone Deficiency 3
381 GNR011 Gnrhr-Related Isolated Gonadotropin-Releasing Hormone Deficiency 3
382 GNR018 Gnrh1-Related Isolated Gonadotropin-Releasing Hormone Deficiency 3
383 TCR001 Tacr3-Related Isolated Gonadotropin-Releasing Hormone Deficiency 3
384 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80
385 c GLY008 Glycogen Storage Disease Ii 61
386 HYP056 Hypoglycemia 60
387 c CNG006 Congenital Hypothyroidism 60
388 P HYP086 Hypothyroidism 60
389 P THY023 Thymoma 59
390 P GLY013 Glycogen Storage Disease 59
391 P HYP060 Hyperinsulinism 57
392 P GRV001 Graves' Disease 57
393 P HYP069 Hyperparathyroidism 56
394 c GLY060 Glycogen Storage Disease Ia 55
395 P HYP613 Hypophosphatemic Rickets 55
396 P HYP050 Hyperinsulinemic Hypoglycemia 55
397 P PRG013 Paraganglioma 54
398 P MLT074 Multiple Endocrine Neoplasia 54
399 P OVR049 Ovarian Disease 54
400 c GLY007 Glycogen Storage Disease Iv 54
401 P THY032 Thyroiditis 53
402 P HYP076 Hyperthyroidism 53
403 HYP080 Hypogonadism 52
404 P HYP024 Hypoparathyroidism 52
405 GTR002 Goiter 52
406 P DBT005 Diabetes Insipidus 52
407 c CNT075 Central Precocious Puberty 50
408 P HYP065 Hyperaldosteronism 50
409 c MLT086 Multiple Endocrine Neoplasia, Type Iv 50
410 P PRC019 Precocious Puberty 50
411 c GLY019 Glycogen Storage Disease Iiia 50
412 P PRS049 Persistent Mullerian Duct Syndrome 50
413 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 48
414 P CNG411 Congenital Disorder of Glycosylation, Type in 48
415 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
416 c GLY005 Glycogen Storage Disease Vi 48
417 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
418 DBT004 Diabetic Polyneuropathy 47
419 c GLY011 Glycogen Storage Disease Vii 47
420 EST007 Estrogen Resistance 47
421 GYN001 Gynecomastia 47
422 HYP135 Hypophosphatemic Rickets with Hypercalciuria 46
423 PTT004 Pituitary Apoplexy 46
424 HYP043 Hyperandrogenism 46
425 NDL007 Nodular Goiter 45
426 LPP002 Lipoprotein Glomerulopathy 45
427 c GRV008 Graves Disease 1 44
428 c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 44
429 P ATM019 Autoimmune Polyendocrine Syndrome 43
430 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 43
431 c CNG012 Congenital Generalized Lipodystrophy 43
432 TMP012 Temple Syndrome 43
433 NNF007 Non-Functioning Pituitary Adenoma 42
434 BMF001 Bamforth-Lazarus Syndrome 42
435 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 42
436 P ACQ022 Acquired Generalized Lipodystrophy 42
437 MLT008 Multinodular Goiter 41
438 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
439 GND003 Gonadal Disease 40
440 HYP070 Hyperpituitarism 40
441 PTT003 Pituitary-Dependent Cushing's Disease 39
442 c SBC007 Subacute Thyroiditis 39
443 PSD009 Pseudohermaphroditism 39
444 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39
445 c GLY016 Glycogen Storage Disease Ib 39
446 RCK007 Rickets, Vitamin D-Resistant, Type Iia 38
447 PLR009 Pol Iii-Related Leukodystrophies 38
448 HRM002 Hermaphroditism 38
449 HYP026 Hypoglycemic Coma 37
450 ACD009 Acid-Labile Subunit, Deficiency of 37
451 SXD001 Sex Differentiation Disease 37
452 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 37
453 c OVR075 Ovarian Dysgenesis 1 37
454 SML028 Semilobar Holoprosencephaly 36
455 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
456 ETH004 Euthyroid Sick Syndrome 36
457 c HYP311 Hyperparathyroidism 3 36
458 c FML156 Familial Hyperaldosteronism 36
459 c SPR094 Sporadic Pheochromocytoma 36
460 ATM014 Autoimmune Disease of Endocrine System 35
461 P MXD016 Mixed Gonadal Dysgenesis 35
462 HYP064 Hypogonadotropism 35
463 c PRG021 Paragangliomas 4 35
464 ATH010 Athyreosis 35
465 END028 Endemic Goiter 35
466 NNT010 Nontoxic Goiter 34
467 ALB014 Alobar Holoprosencephaly 34
468 MYX004 Myxedema 34
469 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
470 LBR025 Lobar Holoprosencephaly 34
471 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
472 PLM011 Plummer's Disease 33
473 P OVR076 Ovarian Dysgenesis 2 33
474 HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33
475 c ATM068 Autoimmune Hypoparathyroidism 33
476 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33
477 c PRG019 Paragangliomas 2 33
478 c GLY057 Glycogen Storage Disease X 33
479 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
480 c GLY023 Glycogen Storage Disease Type 0 33
481 c PRG020 Paragangliomas 3 32
482 c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 32
483 MXD027 Mixed Type Thymoma 32
484 c HRD086 Hereditary Hypophosphatemic Rickets 32
485 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
486 c CNT101 Central Congenital Hypothyroidism 32
487 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 31
488 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
489 c TYP010 Type C Thymoma 31
490 c CNG379 Congenital Disorder of Glycosylation, Type It 31
491 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
492 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
493 c GLY044 Glycogen Storage Disease Ixc 31
494 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 30
495 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
496 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 30
497 c INV003 Invasive Malignant Thymoma 30
498 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
499 c GLY042 Glycogen Storage Disease Xi 30
500 c ACT053 Acute Thyroiditis 30
501 ATM033 Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia 29
502 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29
503 c CNG188 Congenital Disorder of Glycosylation, Type if 29
504 THY098 Thyroid Ectopia 29
505 c PRG094 Paragangliomas 5 29
506 PTT001 Pituitary Hypoplasia 29
507 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 29
508 BCH003 Boucher-Neuhauser Syndrome 29
509 SPT016 Septopreoptic Holoprosencephaly 29
510 c RBN008 Rubinstein-Taybi Syndrome 2 28
511 c HYP438 Hyperaldosteronism, Familial, Type Iii 28
512 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 28
513 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
514 ADN064 Adenohypophysitis 28
515 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
516 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
517 c HYP600 Hyperaldosteronism, Familial, Type Ii 28
518 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
519 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
520 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
521 TXC004 Toxic Diffuse Goiter 27
522 THY001 Thyroid Crisis 27
523 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
524 CLL036 Culler-Jones Syndrome 26
525 ACD001 Acidophil Adenoma 26
526 MLL011 Mullerian Aplasia and Hyperandrogenism 26
527 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
528 IDP034 Idiopathic Central Precocious Puberty 26
529 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
530 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
531 NNT003 Neonatal Thyrotoxicosis 26
532 c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 26
533 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
534 KPP002 Keppen-Lubinsky Syndrome 26
535 c GLY009 Glycogen Storage Disease Xv 26
536 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
537 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 26
538 c OVR102 Ovarian Dysgenesis 3 26
539 HYP029 Hyperthyroxinemia 25
540 CRT005 Cortical Thymoma 25
541 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
542 c OVR107 Ovarian Dysgenesis 4 25
543 c PRC046 Precocious Puberty, Central, 2 25
544 PTT010 Pituitary Infarct 25
545 c GLY017 Glycogen Storage Disease Ic 25
546 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
547 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 25
548 c PRC047 Precocious Puberty, Central, 1 25
549 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
550 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
551 ATY007 Atypical Follicular Adenoma 24
552 c THY107 Thymoma, Familial 24
553 THY016 Thyroid Hurthle Cell Adenoma 24
554 PST014 Postsurgical Hypothyroidism 24
555 c GLY059 Glycogen Storage Disease Xiii 24
556 HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 23
557 P KNN002 Kenny-Caffey Syndrome 23
558 SBS002 Substernal Goiter 23
559 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 23
560 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 23
561 SPP005 Suppurative Thyroiditis 23
562 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
563 c GLY043 Glycogen Storage Disease Xii 23
564 c HYP320 Hypophosphatemic Rickets, Ar 23
565 HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 23
566 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
567 c HYP720 Hyperparathyroidism 4 23
568 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
569 PNL023 Penile Agenesis 23
570 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
571 HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 22
572 HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 22
573 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 22
574 HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 22
575 HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 22
576 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
577 HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 22
578 FRM001 Freemartinism 21
579 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
580 DND003 Dendritic Cell Thymoma 21
581 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
582 c HRD156 Hereditary Central Diabetes Insipidus 21
583 HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 21
584 P ATM067 Autoimmune Polyendocrinopathy Type 3 21
585 HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 21
586 HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 21
587 SBB001 Sbbyss Syndrome 21
588 SLN005 Silent Pituitary Adenoma 20
589 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
590 HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 20
591 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 20
592 HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 20
593 HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 20
594 XSM001 X Small Rings 20
595 c GLY006 Glycogen Storage Disease Viii 20
596 THY004 Thyroid Angiosarcoma 20
597 SPN048 Spindle Cell Thymoma 20
598 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
599 CRT065 Cortisone Reductase Deficiency 1 20
600 HYP721 Hypogonadotropic Hypogonadism 22, with or Without Anosmia 19
601 PNL011 Pineal Region Germinoma 19
602 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 19
603 PNL003 Pineal Region Meningioma 19
604 ENC001 Encapsulated Thymoma 19
605 CMB001 Combined Thymoma 19
606 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 18
607 HYP566 Hypogonadotropic Hypogonadism 21 with Anosmia 18
608 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
609 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
610 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 18
611 c FMR009 Fmr1-Related Primary Ovarian Insufficiency 18
612 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
613 PLY115 Polyendocrine-Polyneuropathy Syndrome 18
614 HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 18
615 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
616 c ACQ034 Acquired Central Diabetes Insipidus 18
617 HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 18
618 HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 18
619 c THY085 Thymoma Type a 18
620 NLL003 Null Pituitary Adenoma 18
621 TTR018 Tetragametic Chimerism 17
622 c ATM066 Autoimmune Polyendocrinopathy Type 4 17
623 LTN011 Late-Onset Isolated Acth Deficiency 17
624 c GRV009 Graves Disease 2 17
625 ENC002 Eunuchism 17
626 HYP683 Hypogonadism-Cataract Syndrome 17
627 CRT066 Cortisone Reductase Deficiency 2 17
628 6Q1001 6q16 Deletion Syndrome 17
629 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 16
630 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 16
631 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 16
632 DYS008 Dyshormonogenic Goiter 16
633 c ADL025 Adult Pineoblastoma 16
634 DST037 Distal Monosomy 9p 15
635 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
636 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 15
637 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 15
638 c MLG034 Malignant Type a Thymoma 15
639 c GLY093 Glycogen Storage Disease Ixa 14
640 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
641 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 14
642 FNC050 Functioning Gonadotropic Adenoma 14
643 BRN104 Bronchial Endocrine Tumor 14
644 c SCN039 Secondary Central Precocious Puberty 14
645 c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14
646 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 14
647 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 14
648 IDN001 Iodine Hypothyroidism 13
649 c GLY001 Glycogen Storage Disease Ix 13
650 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 13
651 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 13
652 THY021 Thyroid Malformation 13
653 c THY086 Thymoma Type B 13
654 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 12
655 XLN113 X-Linked Intellectual Disability, Van Esch Type 12
656 PTT040 Pituitary Deficiency Due to Rathke's Pouch Cysts 12
657 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 12
658 c NNS018 Nonsyndromic Paraganglioma 12
659 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
660 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
661 PRT021 Parathyroid Transitional Clear Cell Adenoma 12
662 NNN002 Noninvasive Malignant Thymoma 11
663 46X015 46,xy Ovotesticular Disorder of Sex Development 11
664 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
665 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 11
666 c 46X002 46 Xx Gonadal Dysgenesis 11
667 PNL015 Pineal Region Teratoma 11
668 CLL011 Colloid Adenoma 11
669 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 11
670 THY002 Thyrocalcitonin Secretion Disease 11
671 IDP061 Idiopathic Congenital Hypothyroidism 11
672 PTR012 Paternal 14q32.2 Microdeletion Syndrome 11
673 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 10
674 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 10
675 IGG015 Igg4-Related Thyroid Disease 10
676 c THY087 Thymoma Type Ab 10
677 PNH004 Panhypophysitis 10
678 c CNG445 Congenital Hypothyroidism, Duoxa2-Related 10
679 c PRD024 Prader-Willi Syndrome Due to Translocation 9
680 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
681 ABN002 Abnormality of Glucagon Secretion 9
682 GNT039 Genetic Transient Congenital Hypothyroidism 9
683 c GLD005 Glud1-Related Hyperinsulinism 9
684 P RBN007 Rubinstein Taybi Like Syndrome 9
685 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8
686 c OVR071 Ovarian Insufficiency, Familial 8
687 INT222 Intermediate Dend Syndrome 8
688 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 8
689 PTR013 Paternal 14q32.2 Hypomethylation Syndrome 8
690 LNG018 Lingual Goiter 8
691 c MLG040 Malignant Type Ab Thymoma 8
692 c EP3001 Ep300-Related Rubinstein-Taybi Syndrome 8
693 PNL008 Pineal Dysgerminoma 7
694 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
695 MLT106 Multiple Paragangliomas Associated with Polycythemia 7
696 c CNG149 Congenital Hypothyroidism, Duox2-Related 7
697 c CNG150 Congenital Hypothyroidism, Iyd-Related 7
698 c CNG153 Congenital Hypothyroidism, Tpo-Related 7
699 c CRB084 Crebbp-Related Rubinstein-Taybi Syndrome 7
700 MSC089 Mosaic Monosomy X 7
701 c PRD034 Prader-Willi-Like Syndrome Due to Point Mutation 7
702 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 7
703 c VHL001 Vhl-Related Pheochromocytoma 6
704 c ABC010 Abcc8-Related Hyperinsulinism 6
705 c PSD047 Pseudo-Turner Syndrome 6
706 c INS026 Insr-Related Hyperinsulinism 6
707 c SLC029 Slc16a1-Related Hyperinsulinism 6
708 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 5
709 PST024 Post-Surgical Hypoinsulinemia 5
710 THY020 Thyroid Hyalinizing Trabecular Adenoma 5
711 PNL004 Pineal Region Mature Teratoma 5
712 PNL005 Pineal Region Immature Teratoma 5
713 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
714 c KF1002 Kif1b-Related Pheochromocytoma 5
715 c MXR001 Max-Related Susceptibility to Pheochromocytoma 5
716 c RTR015 Ret-Related Pheochromocytoma 5
717 c TMM001 Tmem127-Related Susceptibility to Pheochromocytoma 5
718 KLL013 Kallmann Syndrome-Heart Disease Syndrome 5
719 MXD004 Mixed Eosinophil-Basophil Adenoma 5
720 c KCN006 Kcnj11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus 5
721 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 4
722 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 4
723 SPR069 Sporadic Secreting Paraganglioma 4
724 RDL003 Riedel's Fibrosing Thyroiditis 4
725 PRT020 Parathyroid Oncocytic Adenoma 4
726 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
727 c GCK001 Gck-Related Hyperinsulinism 4
728 c HDH001 Hadh-Related Hyperinsulinism 4
729 c HNF002 Hnf4a-Related Hyperinsulinism 4
730 c KCN004 Kcnj11-Related Hyperinsulinism 4
731 NNS029 Non-Secreting Paraganglioma 4
732 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 4
733 MDL001 Medulloadrenal Hyperfunction 3
734 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
735 NNS030 Non-Secreting Chemodectoma 2
736 P PNC035 Pancreatic Cancer 84
737 ADR016 Adrenal Cortical Carcinoma 60
738 P PRT010 Parathyroid Carcinoma 61
739 c CDC003 Cdc73-Related Parathyroid Carcinoma 10
740 P MCK022 Meckel Syndrome 1 54
741 c MCK017 Meckel Syndrome 4 27
742 c MCK024 Meckel Syndrome 3 27
743 c MCK025 Meckel Syndrome 2 26
744 c MCK016 Meckel Syndrome 6 25
745 c MCK015 Meckel Syndrome 7 24
746 c MCK019 Meckel Syndrome 5 24
747 c MCK026 Meckel Syndrome 12 23
748 c MCK018 Meckel Syndrome 8 21
749 c MCK021 Meckel Syndrome 9 18
750 c MCK027 Meckel Syndrome 11 17
751 c MCK023 Meckel Syndrome 10 16
752 c MCK028 Meckel Syndrome 13 16
753 c TCT005 Tctn2-Related Meckel Syndrome 13
754 c B9D001 B9d1-Related Meckel Syndrome 12
755 c B9D002 B9d2-Related Meckel Syndrome 12
756 c TMM014 Tmem231-Related Meckel Syndrome 12
757 c KF1003 Kif14-Related Meckel Syndrome 9
758 c CC2002 Cc2d2a-Related Meckel Syndrome 9
759 c CP2004 Cep290-Related Meckel Syndrome 7
760 c MKS002 Mks1-Related Meckel Syndrome 7
761 c NPH041 Nphp3-Related Meckel Syndrome 7
762 c RPG002 Rpgrip1l-Related Meckel Syndrome 7
763 c TMM004 Tmem216-Related Meckel Syndrome 7
764 c TMM007 Tmem67-Related Meckel Syndrome 7
765 P CSH001 Cushing's Syndrome 65
766 THY028 Thyroid Cancer 68
767 SHW002 Shwachman-Diamond Syndrome 61
768 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 43
769 P LFR001 Li-Fraumeni Syndrome 72
770 END035 Endocrine Gland Cancer 50
771 c LFR004 Li-Fraumeni Syndrome 3 11
772 c LFR003 Li-Fraumeni Syndrome, Chek2-Related 7
773 SPT006 Septooptic Dysplasia 48
774 ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45
775 SBC011 Sebaceous Adenocarcinoma 40
776 PNC033 Pancreas Adenocarcinoma 56
777 FML063 Familial Glucocorticoid Deficiency 36
778 PNC013 Pancreatic Ductal Carcinoma 45
779 LYD011 Leydig Cell Hypoplasia 31
780 BRT015 Bartholin's Gland Adenocarcinoma 11
781 PNC046 Pancreatic Cancer/melanoma Syndrome 33
782 PTT048 Pituitary Adenoma, Prolactin-Secreting 52
783 PRT009 Parotid Gland Cancer 43
784 PNC119 Pancreatic Neuroendocrine Tumor 40
785 PNL014 Pineal Gland Cancer 33
786 CRB055 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 32
787 ANL012 Anal Gland Adenocarcinoma 29
788 c HYP715 Hypothyroidism, Congenital, Nongoitrous 4 39
789 PNC008 Pancreatic Endocrine Carcinoma 36
790 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 14
791 PNC051 Pancreatic Cancer, Childhood 14
792 ACR007 Acromegaly 66
793 SLD003 Sialadenitis 46
794 APC004 Apocrine Adenocarcinoma 39
795 ADR004 Adrenal Cortical Adenocarcinoma 35
796 GLN002 Glanders 35
797 PNC041 Pancreatic Ductal Adenocarcinoma 62
798 JHN001 Johanson-Blizzard Syndrome 47
799 c PNC103 Pancreatic Cancer 4 31
800 c PNC095 Pancreatic Cancer 3 31
801 c PNC094 Pancreatic Cancer 1 27
802 LCR009 Lacrimal Gland Adenocarcinoma 27
803 PNC015 Pancreatic Acinar Cell Adenocarcinoma 27
804 ACN026 Acinar Cell Carcinoma of Pancreas 23
805 YRF001 Yorifuji Okuno Syndrome 6
806 GST051 Gastrointestinal Tuberculosis 31
807 ECC008 Eccrine Sweat Gland Neoplasm 26
808 TNG006 Tunglang Savage Bellman Syndrome 12
809 ADR022 Adrenomyeloneuropathy 37
810 IMM064 Immunodeficiency, Common Variable, 10 33
811 HYP249 Hyperthyroidism, Nonautoimmune 27
812 NTR029 Natural Killer Cell and Glucocorticoid Deficiency with Dna Repair Defect 23
813 c PNC111 Pancreatic Cancer 2 29
814 ADR023 Adrenomyodystrophy 26
815 PNC053 Pancreatic Islet Cell Tumors 34
816 ANL011 Anal Canal Carcinoma 33
817 THY043 Thymic Hyperplasia 31
818 WDH001 Wdha Syndrome 29
819 THY031 Thyroid Sarcoma 26
820 ACN007 Acinar Cell Cystadenocarcinoma 24
821 PHC008 Pheochromocytoma-Islet Cell Tumor Syndrome 15
822 NFK001 Nfkb2-Related Common Variable Immune Deficiency 6
823 FRS005 Fraser Jequier Chen Syndrome 3
824 P OBS005 Obesity 91
825 P PHC003 Pheochromocytoma 72
826 TBR010 Tuberculosis 69
827 GLC006 Galactosemia 66
828 P TRN020 Turner Syndrome 65
829 P PRD006 Prader-Willi Syndrome 65
830 P HLP001 Holoprosencephaly 65
831 P BRD002 Bardet-Biedl Syndrome 64
832 P PLY011 Polycystic Ovary Syndrome 63
833 CRB011 Cerebrotendinous Xanthomatosis 62
834 INS001 Insulinoma 60
835 LPR018 Leprechaunism 60
836 GLC037 Glucocorticoid Resistance 59
837 LPP001 Lipoprotein Lipase Deficiency 59
838 CMP005 Campomelic Dysplasia 58
839 RBS003 Rabson-Mendenhall Syndrome 57
840 ARM001 Aromatase Deficiency 57
841 c MYT020 Myotonic Dystrophy 2 57
842 STF001 Stiff-Person Syndrome 56
843 P HYP724 Hyperlipoproteinemia, Type Iii 56
844 c BRD010 Bardet-Biedl Syndrome 1 55
845 ALS001 Alstrom Syndrome 55
846 SMT008 Smith-Magenis Syndrome 55
847 P CRP007 Carpenter Syndrome 55
848 NRN004 Neuroendocrine Tumor 55
849 c PSD067 Pseudohypoparathyroidism Ia 54
850 PTT049 Pituitary Adenoma, Acth-Secreting 54
851 P LPD010 Lipodystrophy 53
852 HYP730 Hypogonadotropic Hypogonadism 52
853 c PSD066 Pseudohypoparathyroidism, Type Ib 52
854 APP015 Apparent Mineralocorticoid Excess 52
855 P NNT009 Neonatal Diabetes Mellitus 51
856 NRM003 Norum Disease 51
857 P FML012 Familial Partial Lipodystrophy 51
858 P GND004 Gonadal Dysgenesis 51
859 c BRD014 Bardet-Biedl Syndrome 2 50
860 HMZ003 Homozygous Familial Hypercholesterolemia 50
861 THY009 Thyroid Lymphoma 50
862 P HYP090 Hyperalphalipoproteinemia 49
863 FRS002 Frasier Syndrome 49
864 GLC036 Glucagonoma 48
865 HPT025 Hepatic Lipase Deficiency 48
866 c BRD011 Bardet-Biedl Syndrome 10 48
867 CNN003 Conn's Syndrome 48
868 c BRD012 Bardet-Biedl Syndrome 11 48
869 P MYT002 Myotonic Dystrophy 48
870 c BRD013 Bardet-Biedl Syndrome 12 47
871 DFF036 Differentiated Thyroid Carcinoma 46
872 P PNB001 Pineoblastoma 46
873 P PSD015 Pseudohypoparathyroidism 46
874 c WLF009 Wolfram Syndrome 2 46
875 c BRD044 Bardet-Biedl Syndrome 17 45
876 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 45
877 c HLP024 Holoprosencephaly 2 45
878 BLP032 Blepharophimosis, Epicanthus Inversus, and Ptosis, Type 1 44
879 SHH001 Sheehan Syndrome 44
880 c BRD016 Bardet-Biedl Syndrome 4 44
881 TRP009 Triple X Syndrome 44
882 c BRD015 Bardet-Biedl Syndrome 3 44
883 FSH001 Fish-Eye Disease 43
884 c BRD033 Bardet-Biedl Syndrome 13 42
885 P LSS027 Lissencephaly, X-Linked 42
886 HYP085 Hypothalamic Disease 42
887 c BRD020 Bardet-Biedl Syndrome 8 42
888 INS006 Insulin Autoimmune Syndrome 41
889 TRP014 Triploidy 41
890 GST030 Gastrinoma 41
891 c BRD048 Bardet-Biedl Syndrome 18 41
892 c BRD017 Bardet-Biedl Syndrome 5 41
893 c BRD018 Bardet-Biedl Syndrome 6 41
894 c 46X001 46 Xy Gonadal Dysgenesis 41
895 WLC001 Wolcott-Rallison Syndrome 41
896 c HLP026 Holoprosencephaly 3 40
897 MRT007 Martsolf Syndrome 40
898 c HLP029 Holoprosencephaly 4 40
899 c BRD032 Bardet-Biedl Syndrome 14 40
900 PRC030 Precocious Puberty, Male 39
901 c BRD035 Bardet-Biedl Syndrome 15 39
902 CRT046 Corticosteroid-Binding Globulin Deficiency 39
903 LRN001 Laurence-Moon Syndrome 39
904 HMG025 Hemoglobin H Disease, Nondeletional 39
905 c HLP023 Holoprosencephaly 1 38
906 ARC007 Arachnoid Cysts 38
907 EMP001 Empty Sella Syndrome 38
908 46X012 46,xy Partial Gonadal Dysgenesis 38
909 HYP315 Hyperparathyroidism, Neonatal 37
910 P HYP120 Hypoaldosteronism 36
911 c CRP022 Carpenter Syndrome 2 35
912 c LPD019 Lipodystrophy, Partial, Acquired 35
913 c LCL022 Localized Lipodystrophy 35
914 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 35
915 c BRD045 Bardet-Biedl Syndrome 19 35
916 HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35
917 c BRD047 Bardet-Biedl Syndrome 16 34
918 DNC004 Diencephalic Syndrome 34
919 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 33
920 DDN002 Duodenal Gastrinoma 33
921 PSD021 Pseudovaginal Perineoscrotal Hypospadias 33
922 c PSD104 Pseudohypoparathyroidism, Type Ii 33
923 c HYP032 Hyperlipoproteinemia Type Iv 33
924 SCH071 Schaaf-Yang Syndrome 32
925 c HLP027 Holoprosencephaly 7 32
926 KGM001 Kagami-Ogata Syndrome 32
927 c KNN009 Kenny-Caffey Syndrome, Type 1 31
928 PSD097 Pseudohermaphroditism, Male, with Gynecomastia 31
929 c BRD019 Bardet-Biedl Syndrome 7 30
930 SCN001 Secondary Hyperparathyroidism of Renal Origin 30
931 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 30
932 BSM002 Bosma Arhinia Microphthalmia Syndrome 30
933 48X003 48,xxyy Syndrome 29
934 49X002 49,xxxxy Syndrome 29
935 OBS062 Obesity, Morbid, Due to Leptin Receptor Deficiency 29
936 c PSD058 Pseudohypoparathyroidism Ic 29
937 46X010 46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 28
938 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 28
939 THY024 Thymus Adenocarcinoma 28
940 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28
941 c HLP025 Holoprosencephaly 9 28
942 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28
943 THY108 Thymic Neuroendocrine Tumor 28
944 46X021 46xy Sex Reversal 8 27
945 c HLP016 Holoprosencephaly 11 27
946 c LSS012 Lissencephaly, X-Linked 2 27
947 MNN042 Meningioma, Radiation-Induced 27
948 EPT007 Epithelial Malignant Thymoma 27
949 OBS063 Obesity, Morbid, Due to Leptin Deficiency 27
950 MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 27
951 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 27
952 MXD014 Mixed Ductal-Endocrine Carcinoma 26
953 INS009 Insulin-Resistance Type B 26
954 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
955 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
956 PRG123 Progeroid Syndrome, Neonatal 26
957 OBS011 Obesity with Impaired Prohormone Processing 26
958 CHR525 Chromosome Xq26.3 Duplication Syndrome 26
959 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 26
960 TTR013 Tetrasomy X 25
961 c HLP028 Holoprosencephaly 5 25
962 c PLY105 Polycystic Ovary Syndrome 1 25
963 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
964 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
965 HYP321 Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency 24
966 MTC025 Mitochondrial Myopathy with Diabetes 24
967 c HYP289 Hyperlipoproteinemia, Type Ib 24
968 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 24
969 PRD001 Predominantly Cortical Thymoma 24
970 c HYP592 Hyperlipoproteinemia, Type 1d 23
971 c BRD021 Bardet-Biedl Syndrome 9 23
972 CRT020 Cortisone Reductase Deficiency 23
973 HYP344 Hyperthyroidism, Familial Gestational 23
974 c HLP022 Holoprosencephaly 8 23
975 PGD001 Pagod Syndrome 23
976 GRW032 Growth Factors, Combined Defect of 23
977 c DBT065 Diabetes Mellitus, Transient Neonatal 2 23
978 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
979 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 22
980 c BRD050 Bardet-Biedl Syndrome 21 22
981 MCP007 Mucoepidermoid Thyroid Carcinoma 21
982 MCH011 Meacham Syndrome 21
983 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 20
984 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 20
985 HYP610 Hypothyroidism, Central, and Testicular Enlargement 20
986 BNG086 Bangstad Syndrome 19
987 c BBS002 Bbs10-Related Bardet-Biedl Syndrome 19
988 LYM123 Lymphedema-Hypoparathyroidism Syndrome 19
989 PNL009 Pineal Region Choriocarcinoma 19
990 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 19
991 GNT043 Genitopalatocardiac Syndrome 19
992 48X002 48,xxxy Syndrome 18
993 c WLF010 Wolfram Syndrome-Like Disease 18
994 FTL005 Fetal Adenoma 18
995 PPL015 Papillary Thymic Adenocarcinoma 17
996 c BRD051 Bardet-Biedl Syndrome 20 17
997 MLT005 Multicentric Papillary Thyroid Carcinoma 17
998 c LPR019 Lipe-Related Familial Partial Lipodystrophy 17
999 PTT016 Patterson Pseudoleprechaunism Syndrome 17
1000 SBC005 Subacute Lymphocytic Thyroiditis 17
1001 ANL010 Anal Neuroendocrine Tumor 17
1002 ESP009 Esophageal Neuroendocrine Tumor 17
1003 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
1004 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
1005 NRN031 Neuroendocrine Tumor of the Appendix 16
1006 THY006 Thymus Lymphoma 15
1007 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
1008 PPL010 Papillary Follicular Thyroid Adenocarcinoma 15
1009 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 15
1010 BSP002 Basophilic Carcinoma 15
1011 c BBS004 Bbs1-Related Bardet-Biedl Syndrome 15
1012 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 14
1013 ADL056 Adult Pineal Parenchymal Tumor 14
1014 XLN112 X-Linked Intellectual Disability, Cilliers Type 14
1015 c BBS005 Bbs2-Related Bardet-Biedl Syndrome 14
1016 RTN072 Retinohepatoendocrinologic Syndrome 14
1017 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1018 c HLP021 Holoprosencephaly 6 14
1019 c BBS006 Bbs4-Related Bardet-Biedl Syndrome 13
1020 P THY005 Thymus Large Cell Carcinoma 13
1021 c BBS008 Bbs7-Related Bardet-Biedl Syndrome 13
1022 TLL001 Tall Cell Variant Papillary Carcinoma 13
1023 c BBS003 Bbs12-Related Bardet-Biedl Syndrome 13
1024 c BBS009 Bbs9-Related Bardet-Biedl Syndrome 13
1025 c BBS007 Bbs5-Related Bardet-Biedl Syndrome 12
1026 c THY008 Thymus Small Cell Carcinoma 12
1027 GLL034 Gallbladder Neuroendocrine Tumor 12
1028 INF124 Infundibulo-Neurohypophysitis 12
1029 PTT039 Pituitary Dermoid and Epidermoid Cysts 12
1030 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
1031 c NNS019 Nonsyndromic Holoprosencephaly 12
1032 c FML275 Familial Hypoaldosteronism 12
1033 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
1034 c TTC002 Ttc8-Related Bardet-Biedl Syndrome 12
1035 c ARL003 Arl6-Related Bardet-Biedl Syndrome 11
1036 OBS060 Obesity Due to Sim1 Deficiency 11
1037 CLS051 Classic Neuroendocrine Tumor of Appendix 11
1038 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 11
1039 c GL2001 Gli2-Related Holoprosencephaly 11
1040 c SX3001 Six3-Related Holoprosencephaly 11
1041 THY017 Thymus Sarcomatoid Carcinoma 11
1042 c IFT002 Ift27-Related Bardet-Biedl Syndrome 11
1043 c TRM009 Trim32-Related Bardet-Biedl Syndrome 11
1044 c PTC003 Ptch1-Related Holoprosencephaly 10
1045 c SHH003 Shh-Related Holoprosencephaly 10
1046 c BBP001 Bbip1-Related Bardet-Biedl Syndrome 10
1047 c CP2001 Cep290-Related Bardet-Biedl Syndrome 10
1048 c MKK001 Mkks-Related Bardet-Biedl Syndrome 10
1049 c MKS001 Mks1-Related Bardet-Biedl Syndrome 10
1050 c WDP001 Wdpcp-Related Bardet-Biedl Syndrome 10
1051 MYT025 Myotubular Myopathy with Abnormal Genital Development 10
1052 THY010 Thymus Mucoepidermoid Carcinoma 10
1053 c HP8001 Hpe8-Related Holoprosencephaly 10
1054 PNL010 Pineal Region Yolk Sac Tumor 9
1055 THY011 Thymus Basaloid Carcinoma 9
1056 c TGF005 Tgif1-Related Holoprosencephaly 9
1057 c ZC2001 Zic2-Related Holoprosencephaly 9
1058 c HP6001 Hpe6-Related Holoprosencephaly 8
1059 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 8
1060 c THY018 Thymus Clear Cell Carcinoma 8
1061 CLM001 Columnar Cell Variant Papillary Carcinoma 8
1062 c CDN002 Cdon-Related Holoprosencephaly 8
1063 c NDL014 Nodal-Related Holoprosencephaly 8
1064 c ABC012 Abcc8-Related Transient Neonatal Diabetes Mellitus 2 8
1065 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
1066 THY012 Thymus Adenosquamous Carcinoma 8
1067 c SDC001 Sdccag8-Related Bardet-Biedl Syndrome 8
1068 MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 7
1069 GST003 Gastrin Secretion Abnormality 7
1070 c FXH001 Foxh1-Related Holoprosencephaly 6
1071 c OBS078 Obesity, Nr0b2-Related 6
1072 c OBS079 Obesity, Ppargc1b-Related 6
1073 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1074 NNN001 Nonencapsulated Sclerosing Carcinoma 6
1075 TRB001 Trabecular Follicular Adenocarcinoma 6
1076 IDN004 Iodine Antenatal Exposure 6
1077 c DBT021 Diabetes Mellitus, Kcnj11-Related Transient Neonatal 5
1078 c SYC001 Say Carpenter Syndrome 5
1079 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 5
1080 NRH002 Neurohypophysis Granular Cell Tumor 5
1081 c OBS008 Obesity, Mc4r-Related 5
1082 c OBS009 Obesity, Pparg-Related 5
1083 c OBS057 Obesity, Pyy-Related 5
1084 c OBS058 Obesity, Sim1-Related 5
1085 c OBS056 Obesity, Ucp3-Related 5
1086 c CTP001 Cetp-Related Hyperalphalipoproteinemia 5
1087 NNR001 Non-Renal Secondary Hyperparathyroidism 4
1088 OBS020 Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency 28
1089 VPM001 Vipoma 47
1090 P PND002 Pendred Syndrome 56
1091 c FX1001 Foxi1-Related Pendred Syndrome 5
1092 c KCN003 Kcnj10-Related Pendred Syndrome 5
1093 c SLC012 Slc26a4-Related Pendred Syndrome 5
1094 WLM001 Wolman Disease 58
1095 ZLL002 Zollinger-Ellison Syndrome 53
1096 MNT119 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 21
1097 PSD014 Pseudopseudohypoparathyroidism 55
1098 SLV012 Salivary Gland Adenoid Cystic Carcinoma 49
1099 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 42
1100 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 32
1101 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 24
1102 SMT003 Somatostatinoma 48
1103 P PFF001 Pfeiffer Syndrome 71
1104 c PFF007 Pfeiffer Syndrome Type 1 38
1105 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 32
1106 c PFF011 Pfeiffer Syndrome Type 2 27
1107 c PFF009 Pfeiffer Syndrome Type 3 26
1108 SPT019 Septo-Optic Dysplasia Spectrum 25
1109 c PFF008 Pfeiffer Syndrome Type 1, 2 and 3 13
1110 P THY102 Thyroid Cancer, Nonmedullary, 2 55
1111 c BRT034 Bartter Syndrome, Type 2 49
1112 46X029 46xx Sex Reversal 1 47
1113 P BRT004 Bartter Disease 46
1114 PTT008 Pituitary Carcinoma 46
1115 c BRT042 Bartter Syndrome, Type 3 45
1116 c BRT035 Bartter Syndrome, Type 4a 36
1117 c BRT033 Bartter Syndrome, Type 1 35
1118 c BRT024 Bartter Syndrome Type 4 18
1119 c THY100 Thyroid Cancer, Nonmedullary, 4 17
1120 c THY101 Thyroid Cancer, Nonmedullary, 5 14
1121 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 10
1122 P ATX030 Ataxia-Telangiectasia 78
1123 SCK003 Sickle Cell Anemia 71
1124 c MLT136 Multiple Endocrine Neoplasia 1 68
1125 P NNN008 Noonan Syndrome 1 68
1126 P VLC001 Velocardiofacial Syndrome 64
1127 AND015 Androgen Insensitivity 63
1128 c MLT024 Multiple Endocrine Neoplasia Iia 62
1129 HSH003 Hashimoto Thyroiditis 62
1130 P SHR029 Short Syndrome 61
1131 HYP121 Hypoalphalipoproteinemia 61
1132 P SRC025 Sarcoidosis 1 61
1133 c MYT021 Myotonic Dystrophy 1 61
1134 CHR072 Chordoma 60
1135 HYP020 Hyperprolactinemia 59
1136 DBT087 Diabetes Insipidus, Neurohypophyseal 59
1137 CRN036 Craniopharyngioma 59
1138 THL013 Thalassemia, Hispanic Gamma-Delta-Beta 58
1139 P HYP192 Hypocalcemia, Autosomal Dominant 58
1140 c MLT025 Multiple Endocrine Neoplasia Iib 57
1141 P DBT083 Diabetes Mellitus, Permanent Neonatal 56
1142 DNY001 Denys-Drash Syndrome 54
1143 c HYP615 Hyperparathyroidism, Familial Primary 53
1144 HYP609 Hypophosphatemic Rickets, X-Linked Dominant 53
1145 CHY002 Chylomicron Retention Disease 52
1146 MND007 Mandibuloacral Dysplasia 51
1147 THY025 Thymus Cancer 50
1148 ALD010 Aldosteronism, Glucocorticoid-Remediable 48
1149 P TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 48
1150 NLS001 Nelson Syndrome 48
1151 P FML068 Familial Hypocalciuric Hypercalcemia 47
1152 RNL051 Renal Cysts and Diabetes Syndrome 46
1153 c SHR030 Short Qt Syndrome 45
1154 CMP034 Complete Androgen Insensitivity Syndrome 44
1155 PTT041 Pituitary Stalk Interruption Syndrome 44
1156 HYP286 Hyperchylomicronemia, Late-Onset 43
1157 TST015 Testicular Disease 43
1158 THY049 Thyroid Cancer, Anaplastic 43
1159 CRN055 Carney Triad 42
1160 FML091 Familial Tumoral Calcinosis 42
1161 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
1162 P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 42
1163 HYP101 Hyperinsulinism-Hyperammonemia Syndrome 42
1164 LCH005 Lchad Deficiency 41
1165 CRC014 Carcinoid Tumors, Intestinal 41
1166 ONC003 Oncogenic Osteomalacia 41
1167 ARM004 Aromatase Excess Syndrome 40
1168 c HYP317 Hypocalciuric Hypercalcemia, Type Ii 39
1169 c HYP314 Hypocalciuric Hypercalcemia, Type I 39
1170 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 39
1171 HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 38
1172 c NNN010 Noonan Syndrome 3 38
1173 c HYP725 Hypocalciuric Hypercalcemia, Type Iii 38
1174 c NNN012 Noonan Syndrome 5 37
1175 ANR018 Anorchia 37
1176 P PRR025 Perrault Syndrome 36
1177 c SRC023 Sarcoidosis 2 36
1178 c LPD021 Lipodystrophy, Familial Partial, Type 3 35
1179 DBT090 Diabetes and Deafness, Maternally Inherited 35
1180 GBL002 Goblet Cell Carcinoid 34
1181 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 34
1182 c NNN011 Noonan Syndrome 4 33
1183 P CNT037 Central Nervous System Germinoma 33
1184 c RBN021 Rubinstein-Taybi Syndrome 1 32
1185 c FML294 Familial Short Qt Syndrome 31
1186 c NNN013 Noonan Syndrome 6 31
1187 c NNN025 Noonan Syndrome 10 31
1188 P GST100 Gastric Neuroendocrine Tumor 30
1189 TMR012 Tumoral Calcinosis, Familial, Normophosphatemic 29
1190 c KNN007 Kenny-Caffey Syndrome, Type 2 29
1191 c NNN021 Noonan Syndrome 8 29
1192 STY001 Satoyoshi Syndrome 28
1193 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 28
1194 c SHR032 Short Qt Syndrome 2 28
1195 c NNN020 Noonan Syndrome 7 28
1196 TST033 Testicular Regression Syndrome 27
1197 THY096 Thyroid Carcinoma, Hurthle Cell 27
1198 c NNN024 Noonan Syndrome 9 27
1199 c LPD040 Lipodystrophy, Familial Partial, Type 1 27
1200 PRM205 Primary Hepatic Neuroendocrine Carcinoma 26
1201 c SHR031 Short Qt Syndrome 1 26
1202 OPT032 Optic Pathway Glioma 26
1203 c SHR033 Short Qt Syndrome 3 26
1204 c HYP564 Hypocalcemia, Autosomal Dominant 2 25
1205 FML211 Familial Papillary or Follicular Thyroid Carcinoma 25
1206 P FML168 Familial Isolated Pituitary Adenoma 25
1207 HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 24
1208 BRS005 Breast Neuroendocrine Neoplasm 24
1209 c PTP002 Ptpn11-Related Noonan Syndrome 24
1210 c PRR020 Perrault Syndrome 1 23
1211 NRC007 Neuroectodermal Endocrine Syndrome 23
1212 MLG078 Malignant Pineal Area Germ Cell Neoplasm 23
1213 ARD001 Aredyld 22
1214 PLM082 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 22
1215 c PRR024 Perrault Syndrome 3 21
1216 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1217 c PRR026 Perrault Syndrome 5 20
1218 c NNN009 Noonan Syndrome 2 20
1219 FTL062 Fetal Iodine Deficiency Disorder 20
1220 c PRR021 Perrault Syndrome 4 20
1221 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 19
1222 c SRC024 Sarcoidosis 3 19
1223 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 19
1224 MRB006 Morbid Obesity and Spermatogenic Failure 18
1225 PRS017 Prostate Neuroendocrine Neoplasm 18
1226 c PRR022 Perrault Syndrome 2 18
1227 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1228 THY106 Thyroglossal Duct Cyst, Familial 17
1229 DFN313 Deafness-Hypogonadism Syndrome 17
1230 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 17
1231 LRY013 Laryngeal Neuroendocrine Tumor 16
1232 c ADL036 Adult Central Nervous System Germinoma 16
1233 RCT005 Rectum Neuroendocrine Neoplasm 16
1234 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 15
1235 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 15
1236 ILL008 Ileal Neuroendocrine Tumor 15
1237 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1238 HYD021 Hydrocephalus Obesity Hypogonadism 14
1239 c VLC003 Velocardiofacial Syndrome 2 13
1240 MDD017 Middle Ear Neuroendocrine Tumor 13
1241 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 13
1242 c PRR033 Perrault Syndrome 6 12
1243 c FML335 Familial Gastric Type 1 Neuroendocrine Tumor 11
1244 OVR004 Ovary Neuroendocrine Neoplasm 11
1245 NRN034 Neuroendocrine Tumor of the Anal Canal 10
1246 THY027 Thymus Squamous Cell Carcinoma 9
1247 INT252 Intestinal Neuroendocrine Benign Tumor 8
1248 c BRF003 Braf-Related Noonan Syndrome 8
1249 c KRS004 Kras-Related Noonan Syndrome 8
1250 c LZT002 Lztr1-Related Noonan Syndrome 8
1251 c NRS004 Nras-Related Noonan Syndrome 8
1252 c RF1002 Raf1-Related Noonan Syndrome 8
1253 c RT1001 Rit1-Related Noonan Syndrome 8
1254 c SS1001 Sos1-Related Noonan Syndrome 8
1255 c SS2001 Sos2-Related Noonan Syndrome 8
1256 c SDH002 Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 8
1257 JJN009 Jejunal Neuroendocrine Tumor 7
1258 c MP2002 Map2k1-Related Noonan Syndrome 6
1259 c HYP245 Hyperphosphatemic Familial Tumoral Calcinosis, Galnt3-Related 6
1260 c HYP246 Hyperphosphatemic Familial Tumoral Calcinosis, Kl-Related 6
1261 c HYP244 Hyperphosphatemic Familial Tumoral Calcinosis, Fgf23-Related 5
1262 c ABC011 Abcc8-Related Permanent Neonatal Diabetes Mellitus 5
1263 c GCK002 Gck-Related Permanent Neonatal Diabetes Mellitus 5
1264 c INS012 Ins-Related Permanent Neonatal Diabetes Mellitus 5
1265 c KCN005 Kcnj11-Related Permanent Neonatal Diabetes Mellitus 5
1266 c PDX001 Pdx1-Related Permanent Neonatal Diabetes Mellitus 5
1267 c MXR002 Max-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome 5
1268 DYS002 Dysplastic Nevus Syndrome 33
1269 P MDL022 Medullary Thyroid Carcinoma, Familial 60
1270 c THY109 Thyroid Cancer, Nonmedullary, 1 55
1271 c NTR012 Ntrk1-Related Familial Medullary Thyroid Carcinoma 7
1272 VNH007 Von Hippel-Lindau Syndrome 70
1273 SMT004 Smith-Lemli-Opitz Syndrome 69
1274 P FRG001 Fragile X Syndrome 67
1275 P WLF004 Wolfram Syndrome 63
1276 TNG002 Tangier Disease 62
1277 P KLL001 Kallmann Syndrome 62
1278 ABT001 Abetalipoproteinemia 59
1279 KRN002 Kearns-Sayre Syndrome 57
1280 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1281 MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54
1282 WGR001 Wagr Syndrome 53
1283 ALP014 Alpha-Thalassemia/mental Retardation Syndrome 52
1284 c LPD015 Lipodystrophy, Familial Partial, Type 2 51
1285 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 50
1286 MRK001 Merkel Cell Carcinoma 50
1287 HYP108 Hyperparathyroidism-Jaw Tumor Syndrome 48
1288 CRC006 Carcinoid Syndrome 48
1289 HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 46
1290 c MCR256 Microphthalmia, Syndromic 9 43
1291 AND010 Androgen Insensitivity, Partial, with or Without Breast Cancer 43
1292 P PRG017 Paraganglioma and Gastric Stromal Sarcoma 42
1293 MLF002 Malouf Syndrome 41
1294 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1295 CHP002 Chops Syndrome 39
1296 SML004 Small Intestine Neuroendocrine Neoplasm 38
1297 c MCR261 Microphthalmia, Syndromic 2 38
1298 c MCR263 Microphthalmia, Syndromic 1 37
1299 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 37
1300 GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 35
1301 P MCR241 Microphthalmia, Syndromic 3 34
1302 CHR322 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 32
1303 c MCR251 Microphthalmia, Syndromic 6 31
1304 IMM107 Immunodeficiency 31c, Autosomal Dominant 29
1305 c MCR252 Microphthalmia, Syndromic 5 29
1306 c MCR245 Microphthalmia, Syndromic 8 27
1307 c MCR212 Microphthalmia, Syndromic 12 25
1308 c MCR228 Microphthalmia, Syndromic 13 23
1309 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
1310 c MCR217 Microphthalmia, Syndromic 11 23
1311 c MCR262 Microphthalmia, Syndromic 4 22
1312 CLN014 Colon Neuroendocrine Neoplasm 19
1313 MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 19
1314 NRN033 Neuroendocrine Tumor of the Colon 18
1315 c KLL005 Kallmann Syndrome 3 18
1316 c MCR312 Microphthalmia, Syndromic 10 16
1317 c KLL007 Kallmann Syndrome 5 16
1318 c KLL006 Kallmann Syndrome 4 15
1319 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
1320 c KLL008 Kallmann Syndrome 6 14
1321 c FRG004 Fragile X Syndrome Type 1 8
1322 c FRG005 Fragile X Syndrome Type 2 6
1323 c FRG006 Fragile X Syndrome Type 3 6
1324 c SDH004 Sdhb-Related Paraganglioma and Gastric Stromal Sarcoma 6
1325 c SDH006 Sdhc-Related Paraganglioma and Gastric Stromal Sarcoma 6
1326 c SDH008 Sdhd-Related Paraganglioma and Gastric Stromal Sarcoma 6
1327 INS024 Insulin-Like Growth Factor I 75
1328 CFF002 Coffin-Lowry Syndrome 58
1329 WLS004 Wilson-Turner Syndrome 40
1330 MNT112 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 27
1331 MMS001 Momo Syndrome 24
1332 CHR506 Choroideremia, Deafness, and Mental Retardation 21
1333 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 17
1334 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 15
1335 P DBT085 Diabetes Mellitus, Insulin-Dependent 79
1336 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 42
1337 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 40
1338 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 39
1339 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 39
1340 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 38
1341 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 37
1342 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 36
1343 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 36
1344 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 35
1345 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 32
1346 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 31
1347 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 31
1348 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 28
1349 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 27
1350 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 26
1351 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 23
1352 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 22
1353 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 21
1354 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 21



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