Endocrine Diseases Category (1213 diseases)


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

# Family MCID Name MIFTS
1 ISL014 Isolated Growth Hormone Deficiency, Type Ia 47
2 LPD012 Lipoid Congenital Adrenal Hyperplasia 66
3 ADR049 Adrenal Hypoplasia, Congenital 47
4 ADR007 Adrenoleukodystrophy 72
5 ADR005 Adrenal Carcinoma 59
6 ISL003 Isolated Growth Hormone Deficiency 57
7 ISL115 Isolated Growth Hormone Deficiency, Type Iii 42
8 c PNC108 Pancreatitis, Hereditary 60
9 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 54
10 ADR008 Adrenal Adenoma 51
11 ISL114 Isolated Growth Hormone Deficiency, Type Ii 46
12 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 28
13 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 36
14 c LYD012 Leydig Cell Hypoplasia, Type I 34
15 PNC120 Pancreas, Dorsal, Agenesis of 21
16 CNN003 Conn's Syndrome 70
17 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 52
18 HYP780 Hypoadrenocorticism, Familial 59
19 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 31
20 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
21 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 39
22 ADR012 Adrenal Gland Disease 51
23 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 52
24 ISL015 Isolated Growth Hormone Deficiency, Type Ib 44
25 PTT044 Pituitary Hormone Deficiency, Combined, 4 23
26 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 38
27 P GNR008 Generalized Resistance to Thyroid Hormone 36
28 SWT002 Sweat Gland Cancer 35
29 c ACT027 Acute Pancreatitis 61
30 PNC048 Pancreatic Lipase Deficiency 26
31 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 14
32 ACT238 Acth Deficiency, Isolated 45
33 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 14
34 LRN002 Laron Syndrome 63
35 PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52
36 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 50
37 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 44
38 PRR005 Paraurethral Gland Cancer 10
39 P SLV002 Salivary Gland Cancer 62
40 SLV003 Salivary Gland Disease 47
41 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 26
42 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 56
43 LCR011 Lacrimal Gland Carcinoma 25
44 ADR014 Adrenal Medulla Cancer 29
45 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 25
46 ISL001 Islet Cell Tumor 54
47 NNT017 Neonatal Adrenoleukodystrophy 52
48 PRS127 Pearson Marrow-Pancreas Syndrome 45
49 BRT045 Bartholin's Gland Benign Neoplasm 35
50 HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 30
51 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 28
52 ADR013 Adrenal Gland Hyperfunction 54
53 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 30
54 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 28
55 INT147 Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 11
56 P ACT150 Acute Adrenal Insufficiency 51
57 PNC118 Pancreas, Annular 37
58 NNF001 Non-Functioning Pancreatic Endocrine Tumor 35
59 SLV025 Salivary Gland Adenoma, Pleomorphic 29
60 PTT045 Pituitary Hormone Deficiency, Combined, 1 22
61 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
62 PNC029 Pancreatic Acth Hormone Producing Tumor 7
63 CMB021 Combined Pituitary Hormone Deficiency 37
64 GRW003 Growth Hormone Insensitivity with Immunodeficiency 21
65 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 46
66 TRP008 Tropical Calcific Pancreatitis 45
67 P PNC045 Pancreatic Agenesis 40
68 c PNC106 Pancreatic Agenesis 1 36
69 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
70 CYS001 Cystic Fibrosis 85
71 c ATM024 Autoimmune Pancreatitis 49
72 P HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 39
73 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 36
74 HRM003 Hormone Producing Pituitary Cancer 32
75 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 24
76 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 19
77 OST141 Osteoclastic Giant Cell Tumor of Pancreas 13
78 THY053 Thyroid Hormone Plasma Membrane Transport Defect 12
79 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 10
80 GLC042 Glucocorticoid Deficiency 1 39
81 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
82 ACC005 Accessory Pancreas 15
83 PNC034 Pancreas Disease 59
84 PTT046 Pituitary Hormone Deficiency, Combined, 2 57
85 HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 40
86 THY069 Thyroid Hormone Resistance, Selective Pituitary 23
87 KWR001 Kowarski Syndrome 20
88 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 18
89 PRT030 Parathyroid Gland Disease 50
90 P GRW001 Growth Hormone Secreting Pituitary Adenoma 43
91 46X055 46,xy Sex Reversal 3 33
92 MXD003 Mixed Lacrimal Gland Cancer 30
93 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 25
94 TMR001 Tumor of Exocrine Pancreas 24
95 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 24
96 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 18
97 SBM004 Submandibular Gland Cancer 16
98 HYP746 Hypersecretion of Adrenal Androgens, Familial 11
99 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 8
100 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 4
101 P PNC044 Pancreatitis 64
102 APL002 Aplasia of Lacrimal and Salivary Glands 41
103 ADN008 Adenosquamous Pancreas Carcinoma 38
104 ADR003 Adrenal Neuroblastoma 25
105 c PRM196 Premature Ovarian Failure 1 68
106 P HYP083 Hypopituitarism 59
107 JHN001 Johanson-Blizzard Syndrome 48
108 ADR041 Adrenal Cortical Adenoma 42
109 SLL001 Sialolithiasis 41
110 PNC002 Pancreatic Mucinous Cystadenoma 38
111 c FML297 Familial Thyroid Dyshormonogenesis 38
112 c PRM093 Premature Ovarian Failure 7 32
113 GRW026 Growth Hormone Insensitivity, Partial 27
114 CHL075 Cheilitis Glandularis 26
115 P THY061 Thyroid Dyshormonogenesis 2a 24
116 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23
117 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
118 THY064 Thyroid Hormone Metabolism, Abnormal 19
119 c PRM089 Premature Ovarian Failure 3 19
120 c PRM192 Premature Ovarian Failure 8 19
121 c PRM207 Premature Ovarian Failure 10 18
122 c PNC105 Pancreatic Agenesis 2 18
123 c PRM090 Premature Ovarian Failure 6 18
124 c PRM094 Premature Ovarian Failure 5 17
125 c PRM255 Premature Ovarian Failure 12 16
126 c PRM191 Premature Ovarian Failure 9 16
127 P PRM176 Premature Ovarian Failure 2a 16
128 FBR065 Fibrocalculous Pancreatopathy 15
129 c PRM091 Premature Ovarian Failure 2b 15
130 c PRM253 Premature Ovarian Failure 13 14
131 c PRM254 Premature Ovarian Failure 11 14
132 SBL001 Sublingual Gland Cancer 11
133 c FML072 Familial Hypopituitarism 8
134 c PRX045 Peroxisome Biogenesis Disorder 1b 57
135 ECT093 Ectopic Cushing Syndrome 50
136 HYP189 Hypoadrenalism 43
137 c PRX059 Peroxisome Biogenesis Disorder 1a 41
138 c SCN052 Secondary Adrenal Insufficiency 41
139 HDR004 Hidradenoma 41
140 ALC005 Alcoholic Pancreatitis 39
141 PNC006 Pancreatic Somatostatinoma 39
142 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 37
143 PNC028 Pancreatic Steatorrhea 31
144 WTR001 Waterhouse-Friderichsen Syndrome 30
145 ATM078 Autoimmune Addison Disease 30
146 c PRX060 Peroxisome Biogenesis Disorder 5a 29
147 c PRX063 Peroxisome Biogenesis Disorder 2a 29
148 c PRX054 Peroxisome Biogenesis Disorder 12a 26
149 c PRX053 Peroxisome Biogenesis Disorder 14b 26
150 c PRX055 Peroxisome Biogenesis Disorder 11a 25
151 THY039 Thyrotropin-Releasing Hormone Deficiency 25
152 c PRX065 Peroxisome Biogenesis Disorder 3a 25
153 MCC003 Mucocele of Salivary Gland 25
154 c PRX091 Peroxisome Biogenesis Disorder 8a 24
155 c PRX057 Peroxisome Biogenesis Disorder 4a 24
156 c PRX048 Peroxisome Biogenesis Disorder 10a 24
157 c PRX046 Peroxisome Biogenesis Disorder 7a 24
158 c PRX052 Peroxisome Biogenesis Disorder 13a 23
159 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 23
160 c PRX051 Peroxisome Biogenesis Disorder 6a 22
161 c PRX050 Peroxisome Biogenesis Disorder 9b 22
162 c PRX058 Peroxisome Biogenesis Disorder 4b 21
163 c PRX047 Peroxisome Biogenesis Disorder 5b 21
164 c PRX062 Peroxisome Biogenesis Disorder 8b 21
165 CNG298 Congenital Pancreatic Cyst 20
166 c PRX043 Peroxisome Biogenesis Disorder 6b 20
167 c PRX066 Peroxisome Biogenesis Disorder 3b 19
168 c PRX056 Peroxisome Biogenesis Disorder 11b 19
169 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 19
170 P PRX064 Peroxisome Biogenesis Disorder 2b 19
171 PNC014 Pancreatic Serous Cystadenocarcinoma 19
172 c PRX089 Peroxisome Biogenesis Disorder 10b 18
173 c PRX068 Peroxisome Biogenesis Disorder 7b 18
174 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 17
175 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 15
176 c ATM064 Autoimmune Pancreatitis Type 1 14
177 SLD012 Solid Pseudopapillary Carcinoma of the Pancreas 13
178 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 12
179 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 8
180 LCR007 Lacrimal Gland Squamous Cell Carcinoma 7
181 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 7
182 BRN010 Bronchial Mucus Gland Adenoma 6
183 PLM014 Pleomorphic Adenoma 55
184 GRW007 Growth Hormone Deficiency 52
185 ADR009 Adrenal Cortex Disease 40
186 SBC017 Sebaceous Gland Disease 38
187 ACR110 Acrodysostosis 1 with or Without Hormone Resistance 33
188 ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29
189 c THY071 Thyroid Dyshormonogenesis 1 23
190 MTC096 Mitchell-Riley Syndrome 23
191 PTT043 Pituitary Hormone Deficiency, Combined, 6 16
192 PTT009 Pituitary Gland Disease 56
193 SWT003 Sweat Gland Disease 42
194 ADR040 Adrenal Gland Pheochromocytoma 41
195 PRL010 Prolactin Producing Pituitary Tumor 41
196 ADR022 Adrenomyeloneuropathy 39
197 PNC019 Pancreatoblastoma 33
198 BRT014 Bartholin's Duct Cyst 33
199 EXT054 Extra-Adrenal Pheochromocytoma 30
200 GRW023 Growth Hormone Deficiency, Isolated Partial 29
201 PNC104 Pancreatic and Cerebellar Agenesis 25
202 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23
203 PRP074 Peripheral Resistance to Thyroid Hormones 16
204 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 11
205 PRT100 Parotid Gland Adenoid Cystic Carcinoma 10
206 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 8
207 PNC009 Pancreas Sarcoma 8
208 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
209 c SLV006 Salivary Gland Cancer, Adult 6
210 THY030 Thyroid Gland Disease 51
211 P PNB001 Pineoblastoma 51
212 c RCR022 Recurrent Acute Pancreatitis 43
213 TSH001 Tsh Producing Pituitary Tumor 42
214 PNC016 Pancreatic Cholera 41
215 FLL031 Follicular Adenoma 41
216 ADR010 Adrenal Cortical Hypofunction 41
217 INP001 Inappropriate Adh Syndrome 39
218 PNC027 Pancreatic Gastrinoma 37
219 PNC038 Pancreatic Cystadenocarcinoma 37
220 END038 Endocrine Pancreas Disease 36
221 ADR001 Adrenal Rest Tumor 33
222 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 31
223 PPM002 Ppoma 29
224 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 28
225 ADN088 Adenoma of the Pancreas 27
226 PNC039 Pancreatic Cystadenoma 25
227 c PRG021 Paragangliomas 4 25
228 BRT012 Bartholin's Gland Adenoma 24
229 c PRG020 Paragangliomas 3 23
230 c CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
231 DPL009 Duplication of the Pituitary Gland 22
232 c PRG019 Paragangliomas 2 22
233 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
234 c THY063 Thyroid Dyshormonogenesis 4 20
235 c THY056 Thyroid Dyshormonogenesis 3 20
236 c NNS018 Nonsyndromic Paraganglioma 20
237 THY026 Thymus Gland Disease 20
238 c THY062 Thyroid Dyshormonogenesis 5 18
239 c THY110 Thyroid Dyshormonogenesis 6 18
240 GLN006 Glandular Cystitis 18
241 c PRG094 Paragangliomas 5 18
242 c ADL025 Adult Pineoblastoma 17
243 FNC003 Functionless Pituitary Adenoma 15
244 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 14
245 SQM020 Squamous Cell Carcinoma of the Pancreas 14
246 BLT017 Bilateral Massive Adrenal Hemorrhage 13
247 c ATM063 Autoimmune Pancreatitis Type 2 12
248 SBM003 Submandibular Gland Disease 11
249 PNC007 Pancreas Lymphoma 9
250 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 9
251 FNC012 Functioning Pancreatic Endocrine Tumor 9
252 SLV014 Salivary Gland Type Cancer of the Breast 8
253 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
254 BRT010 Bartholin's Gland Transitional Cell Carcinoma 8
255 PNC017 Pancreatic Serous Cystic Neoplasm 8
256 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
257 FLL045 Follicular Cholangitis and Pancreatitis 8
258 P CSH002 Cushing Syndrome, Familial 7
259 PNC031 Pancreatic Foamy Gland Adenocarcinoma 7
260 CHR002 Chronic Lacrimal Gland Enlargement 7
261 PNC037 Pancreatic Colloid Cystadenocarcinoma 7
262 PRL002 Prolapse of Lacrimal Gland 6
263 ANL002 Anal Gland Neoplasm 6
264 ADR006 Adrenal Gland Ganglioneuroblastoma 6
265 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
266 PNC040 Pancreatic Delta Cell Neoplasm 6
267 PNC024 Pancreatic Colloid Cystadenoma 6
268 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
269 VLV037 Vulvar Glandular Tumor 5
270 VGN021 Vaginal Glandular Tumor 5
271 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
272 BRT007 Bartholin's Gland Squamous Cell Carcinoma 5
273 BRT003 Bartholin's Gland Small Cell Carcinoma 5
274 MNR001 Minor Vestibular Glands Adenoma 5
275 BRT009 Bartholin's Gland Adenomyoma 5
276 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
277 SLV007 Salivary Gland Cancer, Childhood 3
278 RSS003 Resistance to Lh 3
279 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
280 MBM001 Meibomian Cyst 30
281 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
282 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 14
283 PRT029 Parathyroid Adenoma 50
284 EXC002 Exocrine Pancreatic Insufficiency 45
285 PNC018 Pancreatic Serous Cystadenoma 30
286 CYT014 Cytochrome P450 Oxidoreductase Deficiency 25
287 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
288 MRT009 Martinez-Frias Syndrome 20
289 GLN001 Glandular Tularemia 15
290 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 11
291 CWP002 Cowper Gland Carcinoma 10
292 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 7
293 LTT003 Littre Gland Carcinoma 6
294 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 4
295 PNC055 Pancreatitis, Pediatric 4
296 P PRG013 Paraganglioma 57
297 MST005 Mastitis 56
298 NNF007 Non-Functioning Pituitary Adenoma 47
299 CHR034 Chromophobe Adenoma 43
300 P HYP599 Hypoparathyroidism, Familial Isolated 39
301 FNC007 Functioning Pituitary Adenoma 37
302 SBC009 Sebaceous Adenoma 37
303 PPL001 Papillary Adenoma 33
304 P PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 31
305 PTT001 Pituitary Hypoplasia 29
306 CLL009 Colloid Carcinoma of the Pancreas 28
307 IDP085 Idiopathic Infantile Hypercalcemia 26
308 THY016 Thyroid Hurthle Cell Adenoma 25
309 HLX001 Helix Syndrome 25
310 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
311 ECC002 Eccrine Acrospiroma 23
312 SLN005 Silent Pituitary Adenoma 23
313 VST005 Vestibular Gland Benign Neoplasm 23
314 BSP001 Basophil Adenoma 20
315 GRF006 Grfoma 19
316 PNC049 Pancreatic Adenoma 18
317 BTD002 Beta-Adrenergic Stimulation, Response to 17
318 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 17
319 PNL001 Pineal Gland Astrocytoma 16
320 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 15
321 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 15
322 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 15
323 TRY003 Trypsinogen Deficiency 14
324 SQM024 Squamous Cell Carcinoma of the Salivary Glands 14
325 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 14
326 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 14
327 CHF001 Chief Cell Adenoma 14
328 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 14
329 HYP611 Hypoparathyroidism, X-Linked 14
330 PRM146 Primary Unilateral Adrenal Hyperplasia 13
331 ECT055 Ectopic Aldosterone-Producing Tumor 12
332 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 12
333 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
334 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
335 IGG012 Igg4-Related Submandibular Gland Disease 12
336 PNC123 Pancreatic Insufficiency, Combined Exocrine 11
337 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
338 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
339 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 11
340 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 11
341 ECT097 Ectodermal Dysplasia with Adrenal Cyst 10
342 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
343 URT019 Urethral Gland Abscess 8
344 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 8
345 SMT017 Somatomammotropinoma 7
346 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
347 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
348 MLG126 Malignant Epithelial Tumor of the Salivary Glands 7
349 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 7
350 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 7
351 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
352 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
353 GND013 Gonadotropin-Releasing Hormone Receptor 2 6
354 PNC125 Pancreatic Lymphoma, Familial 6
355 PNC026 Pancreatic Mucinous Ductal Ectasia 6
356 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
357 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
358 PRT020 Parathyroid Oncocytic Adenoma 5
359 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 5
360 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 5
361 c PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 5
362 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
363 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 5
364 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
365 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
366 PRS050 Prss1-Related Hereditary Pancreatitis 3
367 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 1
368 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89
369 P DBT009 Diabetes Mellitus 72
370 c GLY008 Glycogen Storage Disease Ii 64
371 HYP056 Hypoglycemia 62
372 P HYP086 Hypothyroidism 62
373 P GRV001 Graves' Disease 62
374 c CNG006 Congenital Hypothyroidism 62
375 P GLY013 Glycogen Storage Disease 61
376 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 59
377 P HYP069 Hyperparathyroidism 58
378 P ACT010 Acth-Secreting Pituitary Adenoma 58
379 P OVR049 Ovarian Disease 58
380 c GLY060 Glycogen Storage Disease Ia 57
381 c GLY003 Glycogen Storage Disease Iii 56
382 HYP060 Hyperinsulinism 56
383 P HYP076 Hyperthyroidism 56
384 P THY032 Thyroiditis 56
385 P MLT074 Multiple Endocrine Neoplasia 55
386 P CNG411 Congenital Disorder of Glycosylation, Type in 55
387 P HYP024 Hypoparathyroidism 55
388 c GLY004 Glycogen Storage Disease V 55
389 P DBT005 Diabetes Insipidus 54
390 HYP080 Hypogonadism 54
391 GTR002 Goiter 53
392 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
393 c CNT075 Central Precocious Puberty 52
394 c MLT086 Multiple Endocrine Neoplasia, Type Iv 52
395 P PRC019 Precocious Puberty 52
396 c GRV008 Graves Disease 1 52
397 DBT004 Diabetic Polyneuropathy 51
398 c GLY005 Glycogen Storage Disease Vi 51
399 c GLY007 Glycogen Storage Disease Iv 51
400 HYP043 Hyperandrogenism 50
401 P PRS049 Persistent Mullerian Duct Syndrome 50
402 NDL007 Nodular Goiter 50
403 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
404 c GLY011 Glycogen Storage Disease Vii 48
405 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 47
406 P ATM019 Autoimmune Polyendocrine Syndrome 47
407 PTT004 Pituitary Apoplexy 47
408 GYN001 Gynecomastia 47
409 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
410 ACD008 Acid-Labile Subunit Deficiency 46
411 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 46
412 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 46
413 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
414 MYX004 Myxedema 44
415 P MLT008 Multinodular Goiter 44
416 MRG013 Mirage Syndrome 44
417 LPP002 Lipoprotein Glomerulopathy 44
418 HYP070 Hyperpituitarism 43
419 PTT003 Pituitary-Dependent Cushing's Disease 43
420 c SBC007 Subacute Thyroiditis 43
421 PSD009 Pseudohermaphroditism 42
422 c PTT057 Pituitary Adenoma 4, Acth-Secreting 42
423 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 42
424 HRM002 Hermaphroditism 42
425 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
426 HYP026 Hypoglycemic Coma 41
427 PLR009 Pol Iii-Related Leukodystrophies 40
428 c HYP243 Hyperparathyroidism 1 40
429 EST007 Estrogen Resistance 40
430 c GLY098 Glycogen Storage Disease, Type Ixd 40
431 ETH004 Euthyroid Sick Syndrome 40
432 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
433 END028 Endemic Goiter 40
434 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
435 ADN064 Adenohypophysitis 39
436 HYP064 Hypogonadotropism 38
437 PLM011 Plummer's Disease 38
438 c SPR094 Sporadic Pheochromocytoma 38
439 SML028 Semilobar Holoprosencephaly 38
440 c HYP311 Hyperparathyroidism 3 37
441 ATH010 Athyreosis 37
442 NNT010 Nontoxic Goiter 37
443 SXD001 Sex Differentiation Disease 37
444 ALB014 Alobar Holoprosencephaly 37
445 P HRD086 Hereditary Hypophosphatemic Rickets 36
446 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
447 c GLY016 Glycogen Storage Disease Ib 36
448 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36
449 LBR025 Lobar Holoprosencephaly 36
450 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35
451 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
452 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
453 OHD005 Ohdo Syndrome, Sbbys Variant 35
454 P MXD016 Mixed Gonadal Dysgenesis 35
455 c CNG379 Congenital Disorder of Glycosylation, Type It 34
456 c GLY023 Glycogen Storage Disease Type 0 34
457 P OVR075 Ovarian Dysgenesis 1 33
458 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
459 GND003 Gonadal Disease 32
460 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 32
461 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
462 SPT016 Septopreoptic Holoprosencephaly 31
463 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
464 c CNT101 Central Congenital Hypothyroidism 30
465 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
466 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 30
467 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
468 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
469 c ATM068 Autoimmune Hypoparathyroidism 30
470 c GLY044 Glycogen Storage Disease Ixc 30
471 IDP034 Idiopathic Central Precocious Puberty 30
472 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
473 c GLY057 Glycogen Storage Disease X 30
474 THY001 Thyroid Crisis 30
475 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
476 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
477 c CNG188 Congenital Disorder of Glycosylation, Type if 29
478 BCH003 Boucher-Neuhauser Syndrome 29
479 ACD001 Acidophil Adenoma 29
480 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
481 c ACT053 Acute Thyroiditis 29
482 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
483 NNT003 Neonatal Thyrotoxicosis 28
484 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
485 c GLY017 Glycogen Storage Disease Ic 28
486 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
487 PST014 Postsurgical Hypothyroidism 28
488 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
489 c TYP035 Type 1 Diabetes Mellitus 11 28
490 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 27
491 HYP029 Hyperthyroxinemia 27
492 TXC004 Toxic Diffuse Goiter 27
493 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
494 CRT065 Cortisone Reductase Deficiency 1 27
495 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
496 c TYP037 Type 1 Diabetes Mellitus 13 27
497 c GLY097 Glycogen Storage Disease Ixb 27
498 c GLY043 Glycogen Storage Disease Xii 27
499 c TYP031 Type 1 Diabetes Mellitus 5 26
500 HYP657 Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency 26
501 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
502 c TYP033 Type 1 Diabetes Mellitus 7 26
503 c GLY009 Glycogen Storage Disease Xv 26
504 c TYP028 Type 1 Diabetes Mellitus 2 26
505 MLL011 Mullerian Aplasia and Hyperandrogenism 26
506 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
507 KPP002 Keppen-Lubinsky Syndrome 26
508 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26
509 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
510 PTT010 Pituitary Infarct 26
511 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
512 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 25
513 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
514 SBS002 Substernal Goiter 25
515 SPP005 Suppurative Thyroiditis 25
516 THY098 Thyroid Ectopia 25
517 c RBN008 Rubinstein-Taybi Syndrome 2 25
518 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
519 PNL023 Penile Agenesis 25
520 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
521 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
522 c TYP032 Type 1 Diabetes Mellitus 6 25
523 ATY007 Atypical Follicular Adenoma 24
524 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
525 HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 24
526 P KNN002 Kenny-Caffey Syndrome 24
527 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
528 c OVR076 Ovarian Dysgenesis 2 24
529 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
530 c TYP034 Type 1 Diabetes Mellitus 8 24
531 FRM001 Freemartinism 23
532 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
533 HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 23
534 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
535 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 23
536 HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 23
537 HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 23
538 c TYP036 Type 1 Diabetes Mellitus 12 23
539 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
540 c GLY059 Glycogen Storage Disease Xiii 22
541 P ATM067 Autoimmune Polyendocrinopathy Type 3 22
542 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 22
543 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 22
544 c PRC047 Precocious Puberty, Central, 1 22
545 HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 22
546 MSC089 Mosaic Monosomy X 22
547 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 21
548 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 21
549 c TYP027 Type 1 Diabetes Mellitus 10 21
550 HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 21
551 c TYP038 Type 1 Diabetes Mellitus 15 21
552 PNH004 Panhypophysitis 21
553 c ATM066 Autoimmune Polyendocrinopathy Type 4 21
554 PLY115 Polyendocrine-Polyneuropathy Syndrome 21
555 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
556 c TYP039 Type 1 Diabetes Mellitus 17 20
557 HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 20
558 TTR018 Tetragametic Chimerism 20
559 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
560 c OVR107 Ovarian Dysgenesis 4 20
561 c PRC046 Precocious Puberty, Central, 2 20
562 c TYP040 Type 1 Diabetes Mellitus 18 19
563 HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 19
564 HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 19
565 HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 19
566 ENC002 Eunuchism 19
567 c GLY006 Glycogen Storage Disease Viii 19
568 HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 19
569 HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 19
570 HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 19
571 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 19
572 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 19
573 c TYP030 Type 1 Diabetes Mellitus 4 19
574 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 18
575 HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 18
576 c HRD156 Hereditary Central Diabetes Insipidus 18
577 HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 18
578 HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 18
579 LTN011 Late-Onset Isolated Acth Deficiency 18
580 6Q1001 6q16 Deletion Syndrome 18
581 HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 18
582 THY004 Thyroid Angiosarcoma 18
583 c TYP029 Type 1 Diabetes Mellitus 3 18
584 c HYP720 Hyperparathyroidism 4 18
585 HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 18
586 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17
587 c GLY093 Glycogen Storage Disease Ixa 17
588 DYS008 Dyshormonogenic Goiter 17
589 NNF008 Non-Functioning Paraganglioma 17
590 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
591 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 17
592 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
593 DST037 Distal Monosomy 9p 17
594 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 17
595 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 17
596 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 16
597 c ACQ034 Acquired Central Diabetes Insipidus 16
598 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 16
599 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 16
600 c OVR115 Ovarian Dysgenesis 5 16
601 CRT066 Cortisone Reductase Deficiency 2 16
602 c OVR102 Ovarian Dysgenesis 3 15
603 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 15
604 FNC050 Functioning Gonadotropic Adenoma 15
605 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 15
606 BRN104 Bronchial Endocrine Tumor 15
607 c PSD047 Pseudo-Turner Syndrome 15
608 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 15
609 XSM001 X Small Rings 15
610 PRT021 Parathyroid Transitional Clear Cell Adenoma 15
611 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
612 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 14
613 c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 14
614 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 14
615 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 14
616 XLN113 X-Linked Intellectual Disability, Van Esch Type 14
617 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 14
618 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 14
619 c MLT164 Multiple Endocrine Neoplasia Type 1 and Type 2 13
620 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
621 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 13
622 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 13
623 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 13
624 c GTR013 Goiter, Multinodular 2 12
625 46X015 46,xy Ovotesticular Disorder of Sex Development 12
626 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
627 c 46X002 46 Xx Gonadal Dysgenesis 12
628 c GLY001 Glycogen Storage Disease Ix 12
629 IGG015 Igg4-Related Thyroid Disease 12
630 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 12
631 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
632 NLL003 Null Pituitary Adenoma 11
633 IDP061 Idiopathic Congenital Hypothyroidism 11
634 c GTR014 Goiter, Multinodular 3 10
635 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 10
636 INT222 Intermediate Dend Syndrome 10
637 ABN002 Abnormality of Glucagon Secretion 10
638 GNT039 Genetic Transient Congenital Hypothyroidism 10
639 c PRD024 Prader-Willi Syndrome Due to Translocation 10
640 c GRV009 Graves Disease 2 10
641 c SCN039 Secondary Central Precocious Puberty 10
642 THY020 Thyroid Hyalinizing Trabecular Adenoma 10
643 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 9
644 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9
645 MLT106 Multiple Paragangliomas Associated with Polycythemia 9
646 CLL011 Colloid Adenoma 9
647 LNG018 Lingual Goiter 8
648 c DBT096 Diabetes Mellitus, Congenital Autoimmune 8
649 RDL003 Riedel's Fibrosing Thyroiditis 8
650 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
651 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 7
652 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 6
653 IDN001 Iodine Hypothyroidism 6
654 PST024 Post-Surgical Hypoinsulinemia 6
655 P RBN007 Rubinstein Taybi Like Syndrome 6
656 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
657 MXD004 Mixed Eosinophil-Basophil Adenoma 5
658 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 5
659 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
660 SPR069 Sporadic Secreting Paraganglioma 5
661 c OVR071 Ovarian Insufficiency, Familial 5
662 THY002 Thyrocalcitonin Secretion Disease 4
663 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
664 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 4
665 THY021 Thyroid Malformation 4
666 MDL001 Medulloadrenal Hyperfunction 4
667 c OVR070 Ovarian Insufficiency Due to Fsh Resistance 3
668 NNS030 Non-Secreting Chemodectoma 3
669 P PNC035 Pancreatic Cancer 89
670 ADR054 Adrenocortical Carcinoma, Hereditary 63
671 PRT010 Parathyroid Carcinoma 64
672 P MCK013 Meckel Syndrome, Type 1 62
673 c MCK033 Meckel Syndrome, Type 4 26
674 c MCK032 Meckel Syndrome, Type 3 24
675 c MCK030 Meckel Syndrome, Type 7 24
676 c MCK031 Meckel Syndrome, Type 2 23
677 c MCK034 Meckel Syndrome, Type 8 23
678 c MCK026 Meckel Syndrome 12 21
679 c MCK014 Meckel Syndrome, Type 5 21
680 c MCK012 Meckel Syndrome, Type 6 21
681 c MCK035 Meckel Syndrome, Type 10 20
682 c MCK036 Meckel Syndrome, Type 9 20
683 c MCK028 Meckel Syndrome 13 20
684 c MCK020 Meckel Syndrome, Type 11 19
685 END035 Endocrine Gland Cancer 48
686 THY028 Thyroid Cancer 72
687 SPT006 Septooptic Dysplasia 54
688 SHW002 Shwachman-Diamond Syndrome 63
689 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 42
690 PNC033 Pancreas Adenocarcinoma 63
691 PNL014 Pineal Gland Cancer 36
692 SBC011 Sebaceous Adenocarcinoma 41
693 PNC119 Pancreatic Neuroendocrine Tumor 49
694 FML063 Familial Glucocorticoid Deficiency 35
695 MLN047 Melanoma-Pancreatic Cancer Syndrome 22
696 PNC013 Pancreatic Ductal Carcinoma 47
697 GRD009 Gordon Holmes Syndrome 38
698 ANL012 Anal Gland Adenocarcinoma 24
699 BRT015 Bartholin's Gland Adenocarcinoma 9
700 ACR007 Acromegaly 70
701 c HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 51
702 ADR004 Adrenal Cortical Adenocarcinoma 47
703 APC004 Apocrine Adenocarcinoma 38
704 P LYD011 Leydig Cell Hypoplasia 35
705 PTT048 Pituitary Adenoma, Prolactin-Secreting 63
706 PRT009 Parotid Gland Cancer 45
707 PNC015 Pancreatic Acinar Cell Adenocarcinoma 35
708 ACN026 Acinar Cell Carcinoma of Pancreas 25
709 PND002 Pendred Syndrome 55
710 c PTT056 Pituitary Adenoma 1, Multiple Types 46
711 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 45
712 PNC008 Pancreatic Endocrine Carcinoma 40
713 c PTT060 Pituitary Adenoma 5, Multiple Types 14
714 c PTT061 Pituitary Adenoma 3, Multiple Types 13
715 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 10
716 PNC051 Pancreatic Cancer, Childhood 6
717 SLD003 Sialadenitis 49
718 GLN002 Glanders 41
719 IMM064 Immunodeficiency, Common Variable, 10 37
720 PNC041 Pancreatic Ductal Adenocarcinoma 67
721 LCR009 Lacrimal Gland Adenocarcinoma 30
722 c PNC103 Pancreatic Cancer 4 18
723 c PNC094 Pancreatic Cancer 1 16
724 c PNC095 Pancreatic Cancer 3 16
725 c PNC111 Pancreatic Cancer 2 14
726 YRF001 Yorifuji Okuno Syndrome 7
727 PTT008 Pituitary Carcinoma 51
728 PNC053 Pancreatic Islet Cell Tumors 39
729 GST051 Gastrointestinal Tuberculosis 28
730 ECC008 Eccrine Sweat Gland Neoplasm 26
731 P ACR049 Acrospiroma 18
732 c MLG048 Malignant Acrospiroma 17
733 TNG006 Tunglang Savage Bellman Syndrome 13
734 c PSD108 Pseudohypoparathyroidism, Type Ia 57
735 c PSD066 Pseudohypoparathyroidism, Type Ib 52
736 P PSD015 Pseudohypoparathyroidism 50
737 PNC056 Pineocytoma 49
738 c PSD117 Pseudohypoparathyroidism, Type Ic 39
739 c PSD104 Pseudohypoparathyroidism, Type Ii 34
740 HYP249 Hyperthyroidism, Nonautoimmune 27
741 P PTT006 Pituitary Adenoma 57
742 ADR023 Adrenomyodystrophy 33
743 DFF036 Differentiated Thyroid Carcinoma 49
744 MXD023 Mixed Cell Type Cancer 41
745 THY043 Thymic Hyperplasia 38
746 ANL011 Anal Canal Carcinoma 36
747 WDH001 Wdha Syndrome 31
748 APC009 Apocrine Gland Secretion, Variation in 29
749 APC005 Apocrine Sweat Gland Neoplasm 27
750 ACN007 Acinar Cell Cystadenocarcinoma 25
751 ECC001 Eccrine Papillary Adenocarcinoma 23
752 THY031 Thyroid Sarcoma 21
753 STR088 Stratton-Parker Syndrome 21
754 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 20
755 MCP007 Mucoepidermoid Thyroid Carcinoma 17
756 MLT005 Multicentric Papillary Thyroid Carcinoma 16
757 TLL001 Tall Cell Variant Papillary Carcinoma 11
758 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
759 PST034 Posterior Pituitary Gland Neoplasm 7
760 CLM001 Columnar Cell Variant Papillary Carcinoma 7
761 FRS005 Fraser Jequier Chen Syndrome 5
762 BDY004 Body Mass Index Quantitative Trait Locus 11 75
763 P TRN020 Turner Syndrome 69
764 P MYC084 Mycobacterium Tuberculosis 1 69
765 c MYT021 Myotonic Dystrophy 1 68
766 P HLP001 Holoprosencephaly 67
767 P PRD006 Prader-Willi Syndrome 66
768 P PLY011 Polycystic Ovary Syndrome 65
769 GLC006 Galactosemia 64
770 CRB011 Cerebrotendinous Xanthomatosis 64
771 P MTR004 Maturity-Onset Diabetes of the Young 62
772 P BRD002 Bardet-Biedl Syndrome 61
773 STF001 Stiff-Person Syndrome 61
774 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 61
775 DNH001 Donohue Syndrome 60
776 c PRM005 Primary Hyperparathyroidism 59
777 P HYP724 Hyperlipoproteinemia, Type Iii 59
778 c BRD014 Bardet-Biedl Syndrome 2 58
779 c CRP023 Carpenter Syndrome 1 57
780 P LPD010 Lipodystrophy 57
781 HYP730 Hypogonadotropic Hypogonadism 56
782 c BRD011 Bardet-Biedl Syndrome 10 56
783 c MYT020 Myotonic Dystrophy 2 56
784 c BRD010 Bardet-Biedl Syndrome 1 56
785 ALS001 Alstrom Syndrome 55
786 P HYP050 Hyperinsulinemic Hypoglycemia 55
787 c BRD013 Bardet-Biedl Syndrome 12 55
788 c BRD012 Bardet-Biedl Syndrome 11 55
789 SMT008 Smith-Magenis Syndrome 54
790 HMZ003 Homozygous Familial Hypercholesterolemia 54
791 APP015 Apparent Mineralocorticoid Excess 54
792 P HMG032 Hemoglobin H Disease 53
793 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 53
794 P FML012 Familial Partial Lipodystrophy 53
795 ARM001 Aromatase Deficiency 52
796 HYP732 Hyperalphalipoproteinemia 1 52
797 GLC036 Glucagonoma 52
798 c WLF013 Wolfram Syndrome 1 52
799 FRS002 Frasier Syndrome 51
800 HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 51
801 c HYP739 Hyperlipoproteinemia, Type Iv 51
802 c CNG012 Congenital Generalized Lipodystrophy 51
803 SHH001 Sheehan Syndrome 50
804 P GND004 Gonadal Dysgenesis 50
805 P MYT002 Myotonic Dystrophy 50
806 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 49
807 P NNT009 Neonatal Diabetes Mellitus 48
808 HPT025 Hepatic Lipase Deficiency 48
809 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 48
810 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 47
811 THY009 Thyroid Lymphoma 46
812 HYP085 Hypothalamic Disease 46
813 c BRD044 Bardet-Biedl Syndrome 17 46
814 VTM027 Vitamin D-Dependent Rickets, Type 2a 46
815 PRC038 Precocious Puberty, Male-Limited 46
816 LRN001 Laurence-Moon Syndrome 46
817 FSH001 Fish-Eye Disease 45
818 P ACQ022 Acquired Generalized Lipodystrophy 45
819 c 46X001 46 Xy Gonadal Dysgenesis 45
820 P LSS036 Lissencephaly, X-Linked, 1 45
821 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 45
822 c BRD020 Bardet-Biedl Syndrome 8 44
823 c HYP768 Hyperlipoproteinemia, Type I 44
824 CRT046 Corticosteroid-Binding Globulin Deficiency 43
825 TRP014 Triploidy 43
826 c HLP023 Holoprosencephaly 1 43
827 c BRD018 Bardet-Biedl Syndrome 6 43
828 c BRD048 Bardet-Biedl Syndrome 18 42
829 EMP001 Empty Sella Syndrome 42
830 c BRD016 Bardet-Biedl Syndrome 4 42
831 GLC106 Glucocorticoid Resistance, Generalized 41
832 c BRD033 Bardet-Biedl Syndrome 13 41
833 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41
834 46X012 46,xy Partial Gonadal Dysgenesis 41
835 c BRD032 Bardet-Biedl Syndrome 14 40
836 SCN001 Secondary Hyperparathyroidism of Renal Origin 40
837 P HYP120 Hypoaldosteronism 40
838 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40
839 c HLP024 Holoprosencephaly 2 40
840 c BRD015 Bardet-Biedl Syndrome 3 40
841 HYP776 Hyperparathyroidism, Neonatal Severe 39
842 c HMG001 Hemoglobin C Disease 39
843 INS006 Insulin Autoimmune Syndrome 39
844 TRP009 Triple X Syndrome 39
845 ARC007 Arachnoid Cysts 39
846 c HLP026 Holoprosencephaly 3 39
847 c HLP029 Holoprosencephaly 4 38
848 c LPD019 Lipodystrophy, Partial, Acquired 38
849 c BRD035 Bardet-Biedl Syndrome 15 38
850 MNN042 Meningioma, Radiation-Induced 38
851 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37
852 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 37
853 THY108 Thymic Neuroendocrine Tumor 37
854 DNC004 Diencephalic Syndrome 37
855 c BRD017 Bardet-Biedl Syndrome 5 37
856 LPT014 Leptin Deficiency or Dysfunction 37
857 LPT006 Leptin Receptor Deficiency 36
858 APL017 Apolipoprotein C-Ii Deficiency 36
859 c LCL022 Localized Lipodystrophy 36
860 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 36
861 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 36
862 BSM002 Bosma Arhinia Microphthalmia Syndrome 35
863 HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 35
864 c BRD045 Bardet-Biedl Syndrome 19 35
865 PSD021 Pseudovaginal Perineoscrotal Hypospadias 34
866 c HMG003 Hemoglobin E Disease 34
867 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 34
868 TMP012 Temple Syndrome 34
869 RTN072 Retinohepatoendocrinologic Syndrome 34
870 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 34
871 48X003 48,xxyy Syndrome 33
872 c WLF009 Wolfram Syndrome 2 33
873 c BRD047 Bardet-Biedl Syndrome 16 33
874 49X002 49,xxxxy Syndrome 33
875 SCH071 Schaaf-Yang Syndrome 33
876 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 32
877 CLL036 Culler-Jones Syndrome 32
878 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32
879 c HLP028 Holoprosencephaly 5 32
880 c LSS037 Lissencephaly, X-Linked, 2 31
881 CHR525 Chromosome Xq26.3 Duplication Syndrome 31
882 c BRD019 Bardet-Biedl Syndrome 7 31
883 c HLP027 Holoprosencephaly 7 30
884 PRG123 Progeroid Syndrome, Neonatal 30
885 c PLY105 Polycystic Ovary Syndrome 1 30
886 c KNN009 Kenny-Caffey Syndrome, Type 1 30
887 PTT016 Patterson Pseudoleprechaunism Syndrome 29
888 MXD014 Mixed Ductal-Endocrine Carcinoma 29
889 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 29
890 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 28
891 PRP098 Proprotein Convertase 1/3 Deficiency 28
892 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
893 TTR013 Tetrasomy X 27
894 MCH011 Meacham Syndrome 27
895 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
896 PGD001 Pagod Syndrome 27
897 c BRD050 Bardet-Biedl Syndrome 21 26
898 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
899 46X057 46,xy Sex Reversal 8 26
900 c CRP022 Carpenter Syndrome 2 26
901 c LPD034 Lipodystrophy, Familial Partial, Type 4 26
902 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 26
903 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 26
904 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
905 c HLP025 Holoprosencephaly 9 25
906 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25
907 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
908 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
909 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
910 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 24
911 c HLP016 Holoprosencephaly 11 23
912 c HMG029 Hemoglobin Se Disease 23
913 CRT020 Cortisone Reductase Deficiency 23
914 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 23
915 c BRD051 Bardet-Biedl Syndrome 20 23
916 c BRD021 Bardet-Biedl Syndrome 9 23
917 c HMG004 Hemoglobin D Disease 23
918 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 23
919 HYP344 Hyperthyroidism, Familial Gestational 22
920 GNT043 Genitopalatocardiac Syndrome 22
921 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 22
922 c HLP022 Holoprosencephaly 8 22
923 GRW032 Growth Factors, Combined Defect of 22
924 BNG086 Bangstad Syndrome 21
925 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
926 NRN031 Neuroendocrine Tumor of the Appendix 21
927 HYP610 Hypothyroidism, Central, and Testicular Enlargement 21
928 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 20
929 INS009 Insulin-Resistance Type B 20
930 MTC025 Mitochondrial Myopathy with Diabetes 20
931 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 19
932 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 19
933 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 19
934 c HYP819 Hyperlipoproteinemia, Type Id 19
935 FTL005 Fetal Adenoma 19
936 48X002 48,xxxy Syndrome 19
937 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 19
938 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 18
939 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18
940 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 18
941 SBC005 Subacute Lymphocytic Thyroiditis 18
942 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 17
943 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
944 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
945 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 16
946 SHR084 Short Stature with Nonspecific Skeletal Abnormalities 16
947 XLN112 X-Linked Intellectual Disability, Cilliers Type 15
948 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 15
949 GLL034 Gallbladder Neuroendocrine Tumor 15
950 c NNS019 Nonsyndromic Holoprosencephaly 13
951 c HLP021 Holoprosencephaly 6 13
952 INF124 Infundibulo-Neurohypophysitis 13
953 PTT039 Pituitary Dermoid and Epidermoid Cysts 13
954 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 13
955 c FML275 Familial Hypoaldosteronism 13
956 OBS060 Obesity Due to Sim1 Deficiency 12
957 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 12
958 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
959 c MYC055 Mycobacterium Tuberculosis 3 10
960 MYT025 Myotubular Myopathy with Abnormal Genital Development 10
961 BSP002 Basophilic Carcinoma 10
962 c MYC054 Mycobacterium Tuberculosis 2 10
963 HYP694 Hyperreninemic Hypoaldosteronism, Familial, 2 10
964 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
965 PPL010 Papillary Follicular Thyroid Adenocarcinoma 8
966 MCR051 Microcephaly Hypergonadotropic Hypogonadism Short Stature 8
967 NNN001 Nonencapsulated Sclerosing Carcinoma 7
968 GST003 Gastrin Secretion Abnormality 7
969 CLS051 Classic Neuroendocrine Tumor of Appendix 7
970 XLN202 X-Linked Acrogigantism Due to a Point Mutation 7
971 TRB001 Trabecular Follicular Adenocarcinoma 6
972 IDN004 Iodine Antenatal Exposure 6
973 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
974 NNR001 Non-Renal Secondary Hyperparathyroidism 5
975 P SYC001 Say Carpenter Syndrome 5
976 P LFR001 Li-Fraumeni Syndrome 72
977 c LFR007 Li-Fraumeni Syndrome 2 46
978 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 53
979 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 41
980 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 39
981 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 31
982 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 23
983 SMT003 Somatostatinoma 54
984 PRP037 Proopiomelanocortin Deficiency 34
985 SLV012 Salivary Gland Adenoid Cystic Carcinoma 54
986 VPM001 Vipoma 52
987 LYS012 Lysosomal Acid Lipase Deficiency 60
988 ZLL002 Zollinger-Ellison Syndrome 57
989 c THY102 Thyroid Cancer, Nonmedullary, 2 57
990 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 19
991 c THY100 Thyroid Cancer, Nonmedullary, 4 15
992 c THY101 Thyroid Cancer, Nonmedullary, 5 15
993 c THY117 Thyroid Cancer, Nonmedullary, 3 14
994 PSD014 Pseudopseudohypoparathyroidism 56
995 ALB001 Albright's Hereditary Osteodystrophy 55
996 c HYP731 Hyperaldosteronism, Familial, Type I 56
997 HDR006 Hidradenocarcinoma 47
998 P FML156 Familial Hyperaldosteronism 35
999 c HYP600 Hyperaldosteronism, Familial, Type Ii 33
1000 c HYP438 Hyperaldosteronism, Familial, Type Iii 28
1001 IMM177 Immunodeficiency 54 22
1002 c HYP708 Hyperaldosteronism, Familial, Type Iv 18
1003 NGL001 Naegeli-Franceschetti-Jadassohn Syndrome 33
1004 SPT019 Septo-Optic Dysplasia Spectrum 27
1005 P BRT004 Bartter Disease 52
1006 46X052 46,xx Sex Reversal 1 52
1007 c BRT042 Bartter Syndrome, Type 3 41
1008 FML211 Familial Papillary or Follicular Thyroid Carcinoma 25
1009 c BRT024 Bartter Syndrome Type 4 18
1010 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 12
1011 P ATX030 Ataxia-Telangiectasia 80
1012 P NNN008 Noonan Syndrome 1 77
1013 SCK003 Sickle Cell Anemia 73
1014 P PHC003 Pheochromocytoma 72
1015 c MLT156 Multiple Endocrine Neoplasia, Type I 70
1016 c BTT014 Beta-Thalassemia 70
1017 INS001 Insulinoma 66
1018 P THL005 Thalassemia 65
1019 c MLT160 Multiple Endocrine Neoplasia, Type Iia 65
1020 VLC001 Velocardiofacial Syndrome 64
1021 HYP020 Hyperprolactinemia 64
1022 P HYP802 Hypocalcemia, Autosomal Dominant 1 64
1023 P SRC025 Sarcoidosis 1 63
1024 CRN036 Craniopharyngioma 63
1025 DBT087 Diabetes Insipidus, Neurohypophyseal 62
1026 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1027 DBT083 Diabetes Mellitus, Permanent Neonatal 62
1028 HYP190 Hypoalphalipoproteinemia, Primary 61
1029 CHR072 Chordoma 61
1030 c ALP101 Alpha-Thalassemia 60
1031 CRC006 Carcinoid Syndrome 59
1032 AND002 Androgen Insensitivity Syndrome 57
1033 c MLT159 Multiple Endocrine Neoplasia, Type Iib 56
1034 P SHR029 Short Syndrome 54
1035 CHY002 Chylomicron Retention Disease 54
1036 DNY001 Denys-Drash Syndrome 54
1037 THY049 Thyroid Cancer, Anaplastic 53
1038 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 53
1039 TMR011 Tumoral Calcinosis, Hyperphosphatemic, Familial 50
1040 c RBN021 Rubinstein-Taybi Syndrome 1 50
1041 NLS001 Nelson Syndrome 49
1042 P FML068 Familial Hypocalciuric Hypercalcemia 49
1043 c HYP740 Hyperlipoproteinemia, Type V 48
1044 PTT041 Pituitary Stalk Interruption Syndrome 47
1045 CMP034 Complete Androgen Insensitivity Syndrome 47
1046 FML091 Familial Tumoral Calcinosis 46
1047 CRC014 Carcinoid Tumors, Intestinal 46
1048 ONC003 Oncogenic Osteomalacia 45
1049 RNL051 Renal Cysts and Diabetes Syndrome 45
1050 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 45
1051 CRN055 Carney Triad 45
1052 TST015 Testicular Disease 43
1053 c SHR030 Short Qt Syndrome 42
1054 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42
1055 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42
1056 c NNN010 Noonan Syndrome 3 42
1057 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41
1058 ARM004 Aromatase Excess Syndrome 41
1059 ANR018 Anorchia 40
1060 DBT090 Diabetes and Deafness, Maternally Inherited 40
1061 HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 40
1062 c NNN012 Noonan Syndrome 5 39
1063 P GST100 Gastric Neuroendocrine Tumor 38
1064 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38
1065 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1066 GBL002 Goblet Cell Carcinoid 37
1067 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 37
1068 c LPD021 Lipodystrophy, Familial Partial, Type 3 36
1069 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 36
1070 P CNT037 Central Nervous System Germinoma 36
1071 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 34
1072 P PRR025 Perrault Syndrome 34
1073 c FML294 Familial Short Qt Syndrome 34
1074 STY001 Satoyoshi Syndrome 32
1075 c KNN007 Kenny-Caffey Syndrome, Type 2 30
1076 c SRC023 Sarcoidosis 2 30
1077 OPT032 Optic Pathway Glioma 29
1078 c NNN011 Noonan Syndrome 4 29
1079 CRT039 Corticosterone Methyloxidase Type I Deficiency 29
1080 c LPD040 Lipodystrophy, Familial Partial, Type 1 28
1081 c NNN021 Noonan Syndrome 8 27
1082 THY096 Thyroid Carcinoma, Hurthle Cell 27
1083 DFN313 Deafness-Hypogonadism Syndrome 27
1084 c NNN025 Noonan Syndrome 10 26
1085 FTL062 Fetal Iodine Deficiency Disorder 26
1086 c NNN013 Noonan Syndrome 6 26
1087 ARD001 Aredyld 26
1088 c NNN009 Noonan Syndrome 2 26
1089 THY106 Thyroglossal Duct Cyst, Familial 25
1090 c NNN024 Noonan Syndrome 9 25
1091 c PRR020 Perrault Syndrome 1 24
1092 HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 24
1093 ILL008 Ileal Neuroendocrine Tumor 23
1094 c NNN020 Noonan Syndrome 7 23
1095 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 23
1096 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 22
1097 HYP683 Hypogonadism-Cataract Syndrome 22
1098 c SHR032 Short Qt Syndrome 2 22
1099 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
1100 c PRR024 Perrault Syndrome 3 22
1101 c SHR031 Short Qt Syndrome 1 21
1102 RCT005 Rectum Neuroendocrine Neoplasm 21
1103 c PRR026 Perrault Syndrome 5 20
1104 MRB006 Morbid Obesity and Spermatogenic Failure 20
1105 c SHR033 Short Qt Syndrome 3 19
1106 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
1107 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 19
1108 c HYP564 Hypocalcemia, Autosomal Dominant 2 19
1109 c PRR021 Perrault Syndrome 4 18
1110 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
1111 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 17
1112 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16
1113 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 16
1114 c PRR022 Perrault Syndrome 2 16
1115 HYD021 Hydrocephalus Obesity Hypogonadism 16
1116 JJN009 Jejunal Neuroendocrine Tumor 16
1117 NRC007 Neuroectodermal Endocrine Syndrome 15
1118 NRN034 Neuroendocrine Tumor of the Anal Canal 15
1119 c PRR033 Perrault Syndrome 6 15
1120 MDD017 Middle Ear Neuroendocrine Tumor 11
1121 c SRC024 Sarcoidosis 3 10
1122 c ADL036 Adult Central Nervous System Germinoma 7
1123 c FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1124 DYS002 Dysplastic Nevus Syndrome 36
1125 P THY109 Thyroid Cancer, Nonmedullary, 1 64
1126 PFF001 Pfeiffer Syndrome 74
1127 THY111 Thyroid Carcinoma, Familial Medullary 63
1128 c PRG018 Paragangliomas 1 57
1129 VNH007 Von Hippel-Lindau Syndrome 72
1130 SMT004 Smith-Lemli-Opitz Syndrome 70
1131 P FRG001 Fragile X Syndrome 69
1132 TNG002 Tangier Disease 65
1133 MCC012 Mccune-Albright Syndrome 65
1134 ABT001 Abetalipoproteinemia 64
1135 P KLL001 Kallmann Syndrome 63
1136 P WLF004 Wolfram Syndrome 61
1137 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60
1138 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60
1139 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
1140 KRN002 Kearns-Sayre Syndrome 59
1141 MRK001 Merkel Cell Carcinoma 59
1142 CMP005 Campomelic Dysplasia 58
1143 c LPD015 Lipodystrophy, Familial Partial, Type 2 55
1144 BRJ001 Borjeson-Forssman-Lehmann Syndrome 54
1145 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51
1146 HYP741 Hyperparathyroidism 2 with Jaw Tumors 49
1147 AND020 Androgen Insensitivity, Partial 49
1148 c MCR256 Microphthalmia, Syndromic 9 48
1149 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 43
1150 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
1151 MRT007 Martsolf Syndrome 41
1152 c MCR263 Microphthalmia, Syndromic 1 41
1153 PRG017 Paraganglioma and Gastric Stromal Sarcoma 40
1154 CHP002 Chops Syndrome 40
1155 c MCR261 Microphthalmia, Syndromic 2 40
1156 c MCR241 Microphthalmia, Syndromic 3 39
1157 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 36
1158 PRM205 Primary Hepatic Neuroendocrine Carcinoma 35
1159 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
1160 TST033 Testicular Regression Syndrome 32
1161 c MCR245 Microphthalmia, Syndromic 8 31
1162 P MCR251 Microphthalmia, Syndromic 6 30
1163 MHM001 Mehmo Syndrome 30
1164 IMM179 Immunodeficiency 31c 29
1165 FML168 Familial Isolated Pituitary Adenoma 28
1166 c MCR252 Microphthalmia, Syndromic 5 27
1167 c MCR212 Microphthalmia, Syndromic 12 25
1168 c MCR228 Microphthalmia, Syndromic 13 24
1169 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 23
1170 c MCR262 Microphthalmia, Syndromic 4 23
1171 c MCR217 Microphthalmia, Syndromic 11 22
1172 NRN033 Neuroendocrine Tumor of the Colon 21
1173 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 19
1174 c MCR312 Microphthalmia, Syndromic 10 19
1175 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1176 LRY013 Laryngeal Neuroendocrine Tumor 16
1177 c KLL005 Kallmann Syndrome 3 9
1178 c KLL007 Kallmann Syndrome 5 9
1179 c KLL006 Kallmann Syndrome 4 9
1180 c KLL008 Kallmann Syndrome 6 8
1181 c FRG006 Fragile X Syndrome Type 3 4
1182 c FRG005 Fragile X Syndrome Type 2 4
1183 c FRG004 Fragile X Syndrome Type 1 4
1184 INS024 Insulin-Like Growth Factor I 83
1185 HSH003 Hashimoto Thyroiditis 67
1186 CFF002 Coffin-Lowry Syndrome 58
1187 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 51
1188 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 44
1189 MMS001 Momo Syndrome 32
1190 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 27
1191 CHR506 Choroideremia, Deafness, and Mental Retardation 24
1192 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 18
1193 P DBT085 Diabetes Mellitus, Insulin-Dependent 69
1194 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 28
1195 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 22
1196 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 20
1197 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 20
1198 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 17
1199 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 15
1200 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 15
1201 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 15
1202 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 15
1203 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 15
1204 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 15
1205 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 15
1206 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 14
1207 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
1208 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 14
1209 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 14
1210 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
1211 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
1212 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 13
1213 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 13



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