Endocrine Diseases Category (1935 diseases)


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

# Family MCID Name MIFTS
1 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 51
2 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 35
3 PNC120 Pancreas, Dorsal, Agenesis of 31
4 CHL077 Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy 16
5 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 30
6 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 18
7 P SLV026 Salivary Gland Carcinoma 58
8 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 44
9 PNC048 Pancreatic Lipase Deficiency 28
10 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 26
11 SLV025 Salivary Gland Adenoma, Pleomorphic 37
12 LCR011 Lacrimal Gland Carcinoma 26
13 SLV003 Salivary Gland Disease 40
14 SWT002 Sweat Gland Cancer 40
15 CMB021 Combined Pituitary Hormone Deficiency 41
16 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 31
17 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23
18 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 33
19 OST141 Osteoclastic Giant Cell Tumor of Pancreas 15
20 PRR005 Paraurethral Gland Cancer 10
21 TRP008 Tropical Calcific Pancreatitis 47
22 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 38
23 ISL123 Isolated Growth Hormone Deficiency, Type Iv 24
24 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
25 c PNC106 Pancreatic Agenesis 1 50
26 SWT004 Sweat Gland Neoplasm 35
27 THY053 Thyroid Hormone Plasma Membrane Transport Defect 11
28 c PRM093 Premature Ovarian Failure 7 48
29 GLC042 Glucocorticoid Deficiency 1 44
30 c PRM089 Premature Ovarian Failure 3 25
31 c PRM254 Premature Ovarian Failure 11 25
32 c PRM207 Premature Ovarian Failure 10 23
33 c PRM295 Premature Ovarian Failure 15 22
34 c PRM192 Premature Ovarian Failure 8 22
35 c PRM091 Premature Ovarian Failure 2b 22
36 c PRM094 Premature Ovarian Failure 5 22
37 c PRM090 Premature Ovarian Failure 6 21
38 c PRM253 Premature Ovarian Failure 13 20
39 ACC005 Accessory Pancreas 20
40 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 20
41 c PRM191 Premature Ovarian Failure 9 19
42 c PRM292 Premature Ovarian Failure 14 19
43 P PRM176 Premature Ovarian Failure 2a 18
44 c PRM255 Premature Ovarian Failure 12 18
45 c ACQ064 Acquired Premature Ovarian Failure 7
46 c PNC105 Pancreatic Agenesis 2 17
47 APL002 Aplasia of Lacrimal and Salivary Glands 51
48 c 46X051 46,xy Sex Reversal 1 43
49 c 46X055 46,xy Sex Reversal 3 35
50 c 46X049 46,xy Sex Reversal 2 33
51 P LYD011 Leydig Cell Hypoplasia 32
52 c 46X057 46,xy Sex Reversal 8 29
53 c 46X048 46,xx Sex Reversal 2 28
54 c 46X030 46,xy Sex Reversal 9 26
55 c 46X017 46,xy Sex Reversal 6 26
56 c 46X047 46,xy Sex Reversal 7 24
57 BRT045 Bartholin's Gland Benign Neoplasm 23
58 c 46X058 46,xy Sex Reversal 10 22
59 c 46X056 46,xy Sex Reversal 5 22
60 SBM004 Submandibular Gland Cancer 22
61 c 46X059 46,xx Sex Reversal 4 21
62 c 46X046 46,xy Sex Reversal 4 19
63 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 16
64 c 46X050 46,xx Sex Reversal 3 15
65 HYP746 Hypersecretion of Adrenal Androgens, Familial 12
66 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
67 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 2
68 HDR004 Hidradenoma 38
69 SBC017 Sebaceous Gland Disease 38
70 GLN002 Glanders 36
71 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 35
72 MTC096 Mitchell-Riley Syndrome 30
73 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 25
74 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 23
75 ISL124 Isolated Growth Hormone Deficiency, Type V 22
76 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 21
77 PTT043 Pituitary Hormone Deficiency, Combined, 6 17
78 SLL001 Sialolithiasis 33
79 P THY061 Thyroid Dyshormonogenesis 2a 29
80 CHL075 Cheilitis Glandularis 25
81 SBL001 Sublingual Gland Cancer 10
82 GRW007 Growth Hormone Deficiency 48
83 HYP189 Hypoadrenalism 39
84 c SCN052 Secondary Adrenal Insufficiency 38
85 MCC003 Mucocele of Salivary Gland 35
86 ATM078 Autoimmune Addison Disease 29
87 c ATM064 Autoimmune Pancreatitis Type 1 24
88 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 20
89 CNG298 Congenital Pancreatic Cyst 19
90 OBS653 Obsolete: Fibrocalculous Pancreatopathy 14
91 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 9
92 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 8
93 PRR003 Paraurethral Gland Neoplasm 6
94 BRN010 Bronchial Mucus Gland Adenoma 5
95 ULN003 Ulnar-Mammary Syndrome 52
96 SLD003 Sialadenitis 51
97 PLM014 Pleomorphic Adenoma 50
98 ADR022 Adrenomyeloneuropathy 39
99 SWT003 Sweat Gland Disease 35
100 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 30
101 c THY071 Thyroid Dyshormonogenesis 1 28
102 BRT014 Bartholin's Duct Cyst 32
103 GLN006 Glandular Cystitis 26
104 BRT060 Bartholin's Gland Disease 26
105 BRT012 Bartholin's Gland Adenoma 21
106 HLP031 Holoprosencephaly 12 with or Without Pancreatic Agenesis 16
107 PRP074 Peripheral Resistance to Thyroid Hormones 15
108 PRT100 Parotid Gland Adenoid Cystic Carcinoma 13
109 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 12
110 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 10
111 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
112 c SLV006 Salivary Gland Cancer, Adult 9
113 YRF001 Yorifuji Okuno Syndrome 9
114 VGN021 Vaginal Glandular Tumor 8
115 BRT010 Bartholin's Gland Transitional Cell Carcinoma 7
116 MNR001 Minor Vestibular Glands Adenoma 7
117 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
118 BRT009 Bartholin's Gland Adenomyoma 6
119 VLV037 Vulvar Glandular Tumor 6
120 HLX001 Helix Syndrome 46
121 c RCR022 Recurrent Acute Pancreatitis 46
122 PNC056 Pineocytoma 46
123 ALD013 Aldosterone-Producing Adenoma 39
124 c PRG020 Paragangliomas 3 36
125 c PRG021 Paragangliomas 4 36
126 c PRG019 Paragangliomas 2 30
127 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 30
128 c NNS018 Nonsyndromic Paraganglioma 30
129 c PRG094 Paragangliomas 5 29
130 c THY056 Thyroid Dyshormonogenesis 3 28
131 c THY063 Thyroid Dyshormonogenesis 4 25
132 APC009 Apocrine Gland Secretion, Variation in 24
133 SBM003 Submandibular Gland Disease 24
134 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
135 c THY110 Thyroid Dyshormonogenesis 6 21
136 HYP705 Hyperadrenalism 21
137 ADN072 Adenoma of Pancreas 20
138 P ACR049 Acrospiroma 20
139 c THY062 Thyroid Dyshormonogenesis 5 20
140 c MLG048 Malignant Acrospiroma 20
141 c PRG137 Paragangliomas 6 18
142 c ATM063 Autoimmune Pancreatitis Type 2 17
143 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 16
144 c PRG138 Paragangliomas 7 15
145 SQM014 Squamous Cell Carcinoma of Pancreas 15
146 TNG006 Tunglang Savage Bellman Syndrome 13
147 FNC012 Functioning Pancreatic Endocrine Tumor 9
148 FLL045 Follicular Cholangitis and Pancreatitis 8
149 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
150 CRC037 Carcinoma of Esophagus, Salivary Gland Type 7
151 CHR002 Chronic Lacrimal Gland Enlargement 6
152 PRL002 Prolapse of Lacrimal Gland 5
153 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
154 P MMP001 Mumps 57
155 MBM001 Meibomian Cyst 41
156 c PTT060 Pituitary Adenoma 5, Multiple Types 22
157 c CNG110 Congenital Mumps 7
158 ADN018 Adenoma 60
159 MKL001 Mikulicz Disease 40
160 P HYP120 Hypoaldosteronism 38
161 ECC002 Eccrine Acrospiroma 35
162 CYT014 Cytochrome P450 Oxidoreductase Deficiency 33
163 PPL017 Papillary Hidradenoma 32
164 WDH001 Wdha Syndrome 32
165 HYP611 Hypoparathyroidism, X-Linked 21
166 MRT009 Martinez-Frias Syndrome 19
167 PNC049 Pancreatic Adenoma 17
168 VST005 Vestibular Gland Benign Neoplasm 17
169 c FML275 Familial Hypoaldosteronism 17
170 GLN001 Glandular Tularemia 14
171 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 14
172 PNC055 Pancreatitis, Pediatric 11
173 c ERL059 Early-Onset Familial Hypoaldosteronism 9
174 c LTN026 Late-Onset Familial Hypoaldosteronism 8
175 CWP002 Cowper Gland Carcinoma 8
176 c RRH005 Rare Hypoaldosteronism 5
177 LTT003 Littre Gland Carcinoma 5
178 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
179 MST005 Mastitis 55
180 P THY054 Thyrotoxic Periodic Paralysis 51
181 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 45
182 PPL001 Papillary Adenoma 42
183 SBC009 Sebaceous Adenoma 36
184 GGN002 Gigantism 35
185 LMB008 Limb-Mammary Syndrome 34
186 c THY084 Thyrotoxic Periodic Paralysis 1 32
187 c THY083 Thyrotoxic Periodic Paralysis 2 30
188 ATM061 Autoimmune Polyglandular Syndrome Type 3 29
189 FXF002 Fox-Fordyce Disease 27
190 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 27
191 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 26
192 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 22
193 c PTT061 Pituitary Adenoma 3, Multiple Types 22
194 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 19
195 PRS050 Prss1-Related Hereditary Pancreatitis 19
196 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 17
197 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 16
198 TRY003 Trypsinogen Deficiency 15
199 GLC107 Glucocorticoid Deficiency 5 15
200 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 15
201 IGG012 Igg4-Related Submandibular Gland Disease 14
202 c FML266 Female Infertility Due to Zona Pellucida Defect 14
203 URT019 Urethral Gland Abscess 12
204 c THY119 Thyrotoxic Periodic Paralysis 3 12
205 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 12
206 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 11
207 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 10
208 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 9
209 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 9
210 ECT097 Ectodermal Dysplasia with Adrenal Cyst 8
211 RRP030 Rare Pancreatic Disease 8
212 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
213 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
214 RRT012 Rare Tumor of Salivary Glands 7
215 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
216 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
217 P RRF012 Rare Female Infertility 6
218 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
219 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 6
220 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
221 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
222 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
223 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
224 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
225 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
226 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
227 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
228 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
229 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
230 TMR021 Tumor of Endocrine Glands 4
231 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
232 P RRG009 Rare Genetic Adrenal Disease 3
233 OBS600 Obsolete: Diabetes Associated to Exocrine Pancreas Neoplasia 3
234 OBS614 Obsolete: Metastatic Pituitary Hormone Deficiency 3
235 GNT052 Genetic Pancreatic Disease 2
236 OBS103 Obsolete: Acth-Independent Cushing Syndrome Due to Bilateral Adrenocortical Hyperplasia 2
237 GNT093 Genetic Sebaceous Gland Anomaly 2
238 OBS508 Obsolete: Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 2
239 OBS513 Obsolete: Disorder in the Hormonal Synthesis with or Without Goiter 2
240 PNC130 Pancreatic Agenesis-Holoprosencephaly Syndrome 2
241 OBS607 Obsolete: Congenital Adrenal Hypoplasia of Maternal Cause 2
242 OBS687 Obsolete: Palpebral Sebaceous Gland Tumor 2
243 P HLP001 Holoprosencephaly 67
244 LVR012 Liver Cirrhosis 67
245 c CNG411 Congenital Disorder of Glycosylation, Type in 66
246 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65
247 P KLL001 Kallmann Syndrome 64
248 LYS012 Lysosomal Acid Lipase Deficiency 63
249 PRT013 Portal Hypertension 61
250 c PRX045 Peroxisome Biogenesis Disorder 1b 61
251 ECT006 Ectodermal Dysplasia 58
252 c PRX059 Peroxisome Biogenesis Disorder 1a 57
253 HPT046 Hepatic Veno-Occlusive Disease 56
254 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 56
255 ACD008 Acid-Labile Subunit Deficiency 55
256 HYP060 Hyperinsulinism 55
257 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
258 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 55
259 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
260 GTR002 Goiter 54
261 P HYP050 Hyperinsulinemic Hypoglycemia 54
262 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
263 P THY032 Thyroiditis 52
264 HYP080 Hypogonadism 51
265 ALL001 Allan-Herndon-Dudley Syndrome 50
266 HPT009 Hepatopulmonary Syndrome 49
267 GYN001 Gynecomastia 49
268 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
269 HYP043 Hyperandrogenism 48
270 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
271 ANV001 Anovulation 47
272 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
273 NDL007 Nodular Goiter 46
274 PSD009 Pseudohermaphroditism 46
275 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 46
276 DWR001 Dwarfism 45
277 c HLP023 Holoprosencephaly 1 44
278 c LPD019 Lipodystrophy, Partial, Acquired 44
279 c HLP026 Holoprosencephaly 3 43
280 c 46X002 46 Xx Gonadal Dysgenesis 43
281 P OVR010 Ovarian Brenner Tumor 42
282 MRG013 Mirage Syndrome 42
283 c HLP024 Holoprosencephaly 2 42
284 c HLP029 Holoprosencephaly 4 42
285 P MLT008 Multinodular Goiter 42
286 PTT003 Pituitary-Dependent Cushing's Disease 42
287 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
288 SCH071 Schaaf-Yang Syndrome 42
289 GND003 Gonadal Disease 41
290 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
291 PRM013 Premature Menopause 41
292 MYX004 Myxedema 41
293 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
294 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
295 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
296 HYP064 Hypogonadotropism 40
297 c TRN032 Transient Neonatal Diabetes Mellitus 40
298 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
299 ETH004 Euthyroid Sick Syndrome 39
300 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
301 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
302 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
303 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
304 P OVR075 Ovarian Dysgenesis 1 37
305 THY001 Thyroid Crisis 37
306 c MLG059 Malignant Struma Ovarii 36
307 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
308 c CNG379 Congenital Disorder of Glycosylation, Type It 36
309 P PLY188 Polyendocrinopathy 35
310 c HLP028 Holoprosencephaly 5 35
311 PST014 Postsurgical Hypothyroidism 35
312 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
313 HYP070 Hyperpituitarism 35
314 MLR009 Miliaria 35
315 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
316 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 35
317 P SRT002 Sertoli Cell Tumor 34
318 PLM011 Plummer's Disease 34
319 LCT003 Lactocele 34
320 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
321 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
322 P MXD016 Mixed Gonadal Dysgenesis 34
323 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
324 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
325 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
326 TMP012 Temple Syndrome 33
327 ADN064 Adenohypophysitis 33
328 c CNT101 Central Congenital Hypothyroidism 33
329 THY007 Thymus Lipoma 32
330 OVR109 Ovarian Germ Cell Teratoma 32
331 NNT010 Nontoxic Goiter 32
332 NNT003 Neonatal Thyrotoxicosis 32
333 PTT010 Pituitary Infarct 32
334 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
335 LTM002 Luteoma 31
336 c PRX060 Peroxisome Biogenesis Disorder 5a 31
337 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
338 c ATM068 Autoimmune Hypoparathyroidism 31
339 c PRX051 Peroxisome Biogenesis Disorder 6a 31
340 c PRX057 Peroxisome Biogenesis Disorder 4a 30
341 OVR051 Ovarian Endodermal Sinus Tumor 30
342 c PRX065 Peroxisome Biogenesis Disorder 3a 30
343 c CNG188 Congenital Disorder of Glycosylation, Type if 30
344 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
345 c PRX054 Peroxisome Biogenesis Disorder 12a 30
346 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
347 c BNG029 Benign Struma Ovarii 30
348 c PRX063 Peroxisome Biogenesis Disorder 2a 29
349 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
350 c ADL025 Adult Pineoblastoma 29
351 c HLP025 Holoprosencephaly 9 29
352 CLL011 Colloid Adenoma 29
353 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
354 c PRX056 Peroxisome Biogenesis Disorder 11b 29
355 c PRX050 Peroxisome Biogenesis Disorder 9b 29
356 c PRX055 Peroxisome Biogenesis Disorder 11a 29
357 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
358 HYP029 Hyperthyroxinemia 28
359 CRP004 Corpus Luteum Cyst 28
360 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
361 c ACT053 Acute Thyroiditis 28
362 c OVR076 Ovarian Dysgenesis 2 28
363 IDP034 Idiopathic Central Precocious Puberty 28
364 c PRX043 Peroxisome Biogenesis Disorder 6b 28
365 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
366 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 28
367 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
368 c PRX048 Peroxisome Biogenesis Disorder 10a 28
369 c HLP027 Holoprosencephaly 7 27
370 c PRX046 Peroxisome Biogenesis Disorder 7a 27
371 c PRX053 Peroxisome Biogenesis Disorder 14b 27
372 MCR014 Microcystic Adenoma 27
373 TXC004 Toxic Diffuse Goiter 27
374 c HLP016 Holoprosencephaly 11 27
375 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
376 c PRX047 Peroxisome Biogenesis Disorder 5b 26
377 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
378 THY004 Thyroid Angiosarcoma 26
379 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
380 ATY007 Atypical Follicular Adenoma 26
381 PRM315 Permanent Congenital Hypothyroidism 26
382 P SLP004 Salpingo-Oophoritis 26
383 TTR013 Tetrasomy X 25
384 c PRX052 Peroxisome Biogenesis Disorder 13a 25
385 c PRX091 Peroxisome Biogenesis Disorder 8a 25
386 MCN003 Mucinous Ovarian Cystadenoma 25
387 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
388 PNL003 Pineal Region Meningioma 25
389 SPP005 Suppurative Thyroiditis 25
390 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 24
391 c PRX062 Peroxisome Biogenesis Disorder 8b 24
392 SBS002 Substernal Goiter 24
393 c TRN047 Transient Congenital Hypothyroidism 24
394 THY098 Thyroid Ectopia 24
395 c MLG033 Malignant Ovarian Cyst 24
396 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 24
397 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
398 OVR003 Ovarian Angiosarcoma 24
399 OVR001 Ovarian Stromal Hyperthecosis 24
400 FRM001 Freemartinism 24
401 PRD041 Periodic Fever, Menstrual Cycle-Dependent 23
402 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 23
403 c PRX068 Peroxisome Biogenesis Disorder 7b 23
404 c HLP022 Holoprosencephaly 8 23
405 c OVR107 Ovarian Dysgenesis 4 23
406 IGG015 Igg4-Related Thyroid Disease 23
407 DYS008 Dyshormonogenic Goiter 23
408 c ATM067 Autoimmune Polyendocrinopathy Type 3 22
409 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 22
410 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
411 c OVR119 Ovarian Dysgenesis 7 21
412 ENC002 Eunuchism 21
413 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 21
414 c MLG022 Malignant Sertoli Cell Tumor 20
415 c OVR115 Ovarian Dysgenesis 5 20
416 THY003 Thymic Dysplasia 20
417 c OVR102 Ovarian Dysgenesis 3 20
418 c PRX089 Peroxisome Biogenesis Disorder 10b 20
419 c OVR120 Ovarian Dysgenesis 8 20
420 c ATM066 Autoimmune Polyendocrinopathy Type 4 19
421 c CHR018 Chronic Salpingo-Oophoritis 19
422 MCN010 Mucinous Cystadenofibroma 19
423 c 46X060 46,xx Disorder of Sex Development 18
424 c OVR118 Ovarian Dysgenesis 6 18
425 IDN001 Iodine Hypothyroidism 18
426 ATR009 Atrophy of Testis 17
427 PRP107 Peripheral Hypothyroidism 17
428 c HLP021 Holoprosencephaly 6 17
429 c NNS019 Nonsyndromic Holoprosencephaly 17
430 PNL021 Pineal Cyst 16
431 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 16
432 OVR009 Ovarian Gonadoblastoma 16
433 c KLL008 Kallmann Syndrome 6 16
434 OVR037 Ovarian Solid Teratoma 15
435 INH007 Inherited Thyroxine-Binding Globulin Deficiency 15
436 c GTR013 Goiter, Multinodular 2 14
437 PRT021 Parathyroid Transitional Clear Cell Adenoma 14
438 c KLL007 Kallmann Syndrome 5 13
439 LNG018 Lingual Goiter 13
440 c ACT031 Acute Salpingo-Oophoritis 13
441 c KLL005 Kallmann Syndrome 3 12
442 LPS003 Liposarcoma of the Ovary 12
443 CLR006 Clear Cell Cystadenofibroma 12
444 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 12
445 c GTR014 Goiter, Multinodular 3 11
446 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 11
447 KLL013 Kallmann Syndrome-Heart Disease Syndrome 10
448 INT222 Intermediate Dend Syndrome 10
449 c SCN039 Secondary Central Precocious Puberty 10
450 OVR008 Ovarian Mucinous Cystadenofibroma 9
451 P OVR053 Ovarian Mucinous Adenofibroma 9
452 ITR002 Iatrogenic or Traumatic Pituitary Deficiency 9
453 OVR031 Ovarian Papillary Cystadenoma 9
454 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 8
455 OVR038 Ovarian Fetiform Teratoma 8
456 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
457 c KLL006 Kallmann Syndrome 4 8
458 THY021 Thyroid Malformation 8
459 IDN004 Iodine Antenatal Exposure 8
460 GNT039 Genetic Transient Congenital Hypothyroidism 7
461 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 7
462 PNL004 Pineal Region Mature Teratoma 7
463 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 7
464 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
465 TST008 Testis Polyembryoma 7
466 PST024 Post-Surgical Hypoinsulinemia 7
467 ABN002 Abnormality of Glucagon Secretion 6
468 RDL003 Riedel's Fibrosing Thyroiditis 6
469 CHL063 Childhood Teratoma of the Ovary 6
470 P DSR041 Disorder of Multiple Glycosylation 6
471 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 6
472 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 6
473 SPR069 Sporadic Secreting Paraganglioma 6
474 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
475 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
476 OVR007 Ovarian Endometrioid Cystadenoma 5
477 DZX005 Diazoxide-Resistant Hyperinsulinism 5
478 PNL008 Pineal Dysgerminoma 5
479 NNC016 Non-Acquired Premature Ovarian Failure 5
480 MDL001 Medulloadrenal Hyperfunction 4
481 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
482 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
483 MXD048 Mixed Functioning Pituitary Adenoma 4
484 CNG594 Congenital Thyroid Malformation Without Hypothyroidism 4
485 THY002 Thyrocalcitonin Secretion Disease 3
486 P 46X065 46,xy Disorder of Gonadal Development 3
487 P MCK013 Meckel Syndrome, Type 1 64
488 c MCK032 Meckel Syndrome, Type 3 47
489 c MCK012 Meckel Syndrome, Type 6 43
490 c MCK031 Meckel Syndrome, Type 2 41
491 c MCK030 Meckel Syndrome, Type 7 38
492 c MCK014 Meckel Syndrome, Type 5 38
493 c MCK033 Meckel Syndrome, Type 4 36
494 c MCK034 Meckel Syndrome, Type 8 30
495 c MCK035 Meckel Syndrome, Type 10 28
496 c MCK028 Meckel Syndrome 13 28
497 c MCK026 Meckel Syndrome 12 24
498 c MCK020 Meckel Syndrome, Type 11 22
499 c MCK036 Meckel Syndrome, Type 9 21
500 BRT016 Bartholin's Gland Carcinoma 26
501 PRT009 Parotid Gland Cancer 33
502 ANL012 Anal Gland Adenocarcinoma 21
503 BRT015 Bartholin's Gland Adenocarcinoma 12
504 MXD003 Mixed Lacrimal Gland Cancer 27
505 HYP848 Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome 11
506 APC004 Apocrine Adenocarcinoma 37
507 c PNC103 Pancreatic Cancer 4 44
508 c PNC095 Pancreatic Cancer 3 33
509 c PNC111 Pancreatic Cancer 2 30
510 ACN026 Acinar Cell Carcinoma of Pancreas 29
511 c PNC094 Pancreatic Cancer 1 23
512 LCR007 Lacrimal Gland Squamous Cell Carcinoma 9
513 SBC011 Sebaceous Adenocarcinoma 43
514 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 25
515 PNC051 Pancreatic Cancer, Childhood 6
516 ADN011 Adenoid Cystic Carcinoma 71
517 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 28
518 LCR009 Lacrimal Gland Adenocarcinoma 21
519 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 10
520 BRT003 Bartholin's Gland Small Cell Carcinoma 8
521 GST051 Gastrointestinal Tuberculosis 32
522 SBC018 Sebaceous Gland Neoplasm 32
523 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 23
524 RRT002 Rare Tumor of Pancreas 17
525 SLV014 Salivary Gland Type Cancer of the Breast 8
526 ANL002 Anal Gland Neoplasm 7
527 RRP011 Rare Epithelial Tumor of Pancreas 6
528 SLV007 Salivary Gland Cancer, Childhood 3
529 HDR006 Hidradenocarcinoma 46
530 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37
531 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 27
532 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 65
533 c THY102 Thyroid Cancer, Nonmedullary, 2 59
534 SPT019 Septo-Optic Dysplasia Spectrum 28
535 HDR002 Hidradenitis Suppurativa 58
536 P MLN007 Male Infertility 57
537 MCP006 Mucoepidermoid Carcinoma 53
538 CYS014 Cystadenocarcinoma 51
539 ANL011 Anal Canal Carcinoma 38
540 MXD023 Mixed Cell Type Cancer 38
541 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 34
542 APC005 Apocrine Sweat Gland Neoplasm 26
543 ECC008 Eccrine Sweat Gland Neoplasm 25
544 ECC007 Eccrine Sweat Gland Cancer 24
545 ACN007 Acinar Cell Cystadenocarcinoma 23
546 ECC001 Eccrine Papillary Adenocarcinoma 21
547 STR088 Stratton-Parker Syndrome 21
548 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 18
549 c MLN078 Male Infertility Due to Acephalic Spermatozoa 18
550 c RRM015 Rare Male Infertility 12
551 c RRH008 Rare Hyperthyroidism 12
552 c MLN085 Male Infertility Due to Obstructive Azoospermia 11
553 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 10
554 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
555 c MLN081 Male Infertility Due to Sperm Motility Disorder 10
556 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 9
557 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
558 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
559 c MLN082 Male Infertility Due to Sperm Disorder 6
560 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
561 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
562 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
563 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
564 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
565 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
566 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
567 OBS540 Obsolete: Melanoma-Pancreatic Cancer Syndrome 3
568 ADR007 Adrenoleukodystrophy 72
569 LPT014 Leptin Deficiency or Dysfunction 72
570 P PHC003 Pheochromocytoma 71
571 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
572 P LVR013 Liver Disease 71
573 c PRM196 Premature Ovarian Failure 1 70
574 P HYP086 Hypothyroidism 70
575 WLS001 Wilson Disease 69
576 P DBT085 Diabetes Mellitus, Insulin-Dependent 68
577 P DBT009 Diabetes Mellitus 66
578 PRT036 Peritonitis 66
579 P TRN020 Turner Syndrome 66
580 c CNG006 Congenital Hypothyroidism 65
581 P ADN016 Adenocarcinoma 65
582 TNG002 Tangier Disease 64
583 MNN042 Meningioma, Radiation-Induced 64
584 CHY002 Chylomicron Retention Disease 63
585 THY029 Thyroid Carcinoma 62
586 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 62
587 c ACT027 Acute Pancreatitis 60
588 CHR072 Chordoma 60
589 P WLF004 Wolfram Syndrome 58
590 STS003 Sitosterolemia 58
591 P PLY011 Polycystic Ovary Syndrome 58
592 CFF002 Coffin-Lowry Syndrome 57
593 P GRV001 Graves' Disease 57
594 OVR012 Ovarian Serous Cystadenocarcinoma 56
595 c WLF013 Wolfram Syndrome 1 56
596 c FML035 Familial Hyperlipidemia 56
597 HYP732 Hyperalphalipoproteinemia 1 55
598 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 55
599 P HYP076 Hyperthyroidism 55
600 c GRV008 Graves Disease 1 55
601 P OVR049 Ovarian Disease 55
602 P PRM006 Primary Biliary Cirrhosis 54
603 P HYP730 Hypogonadotropic Hypogonadism 54
604 P DBT005 Diabetes Insipidus 54
605 THY030 Thyroid Gland Disease 53
606 c ACT134 Acute Liver Failure 53
607 c SCN007 Secondary Hyperparathyroidism 52
608 P HMG032 Hemoglobin H Disease 52
609 PRT029 Parathyroid Adenoma 52
610 c CRP023 Carpenter Syndrome 1 51
611 ADR049 Adrenal Hypoplasia, Congenital 51
612 c MLT086 Multiple Endocrine Neoplasia, Type Iv 51
613 ADR040 Adrenal Gland Pheochromocytoma 51
614 P OVR046 Ovarian Cyst 50
615 P MTH008 Methylmalonic Acidemia 50
616 LPR001 Lepromatous Leprosy 50
617 c INF145 Infantile Liver Failure Syndrome 1 50
618 c CNT075 Central Precocious Puberty 50
619 ACT238 Acth Deficiency, Isolated 49
620 PRS129 Prostatic Hyperplasia, Benign 49
621 THY128 Thyroid Tumor 49
622 LRN001 Laurence-Moon Syndrome 49
623 P HYP121 Hypoalphalipoproteinemia 49
624 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 49
625 P BRS053 Breast Fibroadenoma 49
626 HDR003 Hidradenitis 48
627 P GND004 Gonadal Dysgenesis 47
628 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47
629 ISL114 Isolated Growth Hormone Deficiency, Type Ii 46
630 CLL036 Culler-Jones Syndrome 46
631 ADR012 Adrenal Gland Disease 46
632 PRT030 Parathyroid Gland Disease 45
633 HPT067 Hepatocellular Adenoma 45
634 GLC036 Glucagonoma 45
635 P LYD001 Leydig Cell Tumor 45
636 FSH001 Fish-Eye Disease 45
637 PTT004 Pituitary Apoplexy 44
638 ADR041 Adrenal Cortical Adenoma 44
639 c ADN012 Adenocarcinoma in Situ 43
640 THY009 Thyroid Lymphoma 43
641 c HMG003 Hemoglobin E Disease 43
642 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 43
643 FLL031 Follicular Adenoma 43
644 c HMG001 Hemoglobin C Disease 43
645 P PRT026 Parotitis 43
646 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 43
647 GST030 Gastrinoma 43
648 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
649 EXC002 Exocrine Pancreatic Insufficiency 41
650 ORC001 Orchitis 41
651 P ACT244 Acth-Independent Cushing Syndrome 40
652 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
653 c MLG157 Malignant Pheochromocytoma 40
654 OST004 Osteitis Fibrosa 40
655 c HMG029 Hemoglobin Se Disease 40
656 EST004 Estrogen Excess 40
657 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39
658 HYP085 Hypothalamic Disease 38
659 TSH001 Tsh Producing Pituitary Tumor 38
660 c PLY105 Polycystic Ovary Syndrome 1 38
661 ADR009 Adrenal Cortex Disease 38
662 c PRM340 Primary Adrenal Insufficiency 37
663 ALC005 Alcoholic Pancreatitis 37
664 FML168 Familial Isolated Pituitary Adenoma 37
665 ANR018 Anorchia 36
666 c WLF009 Wolfram Syndrome 2 36
667 HRM002 Hermaphroditism 36
668 P STR021 Struma Ovarii 36
669 ADN075 Adenomyoma 36
670 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 36
671 46X012 46,xy Partial Gonadal Dysgenesis 36
672 END011 Endometriosis of Ovary 35
673 HMN004 Hemangioma of Liver 35
674 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 34
675 LYM043 Lymphocytic Hypophysitis 34
676 ATH010 Athyreosis 34
677 P PNC045 Pancreatic Agenesis 34
678 EXT054 Extra-Adrenal Pheochromocytoma 34
679 OPT032 Optic Pathway Glioma 34
680 c HMG004 Hemoglobin D Disease 34
681 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 33
682 c SPR094 Sporadic Pheochromocytoma 33
683 MCH011 Meacham Syndrome 33
684 c LVR030 Liver Failure, Infantile, Transient 33
685 DYS017 Dysgerminoma of Ovary 32
686 ADR010 Adrenal Cortical Hypofunction 32
687 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 32
688 HPT006 Hepatic Angiomyolipoma 32
689 TST020 Testis Seminoma 32
690 HPT081 Hepatic Infarction 32
691 OVR048 Ovarian Cystadenoma 32
692 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 32
693 END038 Endocrine Pancreas Disease 32
694 c RRD013 Rare Diabetes Mellitus Type 2 32
695 OVR021 Ovarian Lymphoma 32
696 LVR004 Liver Inflammatory Pseudotumor 31
697 GRN009 Granulomatous Hepatitis 31
698 c CNG562 Congenital Hypogonadotropic Hypogonadism 31
699 c MLG072 Malignant Leydig Cell Tumor 31
700 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 31
701 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
702 c PRM316 Primary Congenital Hypothyroidism 30
703 PNC028 Pancreatic Steatorrhea 30
704 SYN116 Syndromic Obesity 30
705 PTT001 Pituitary Hypoplasia 30
706 PTT044 Pituitary Hormone Deficiency, Combined, 4 30
707 c BLR024 Biliary Cirrhosis, Primary, 1 30
708 c CRP022 Carpenter Syndrome 2 29
709 48X003 48,xxyy Syndrome 29
710 c TYP027 Type 1 Diabetes Mellitus 10 29
711 CTC004 Catecholamine-Producing Tumor 29
712 c TYP032 Type 1 Diabetes Mellitus 6 29
713 c HYP843 Hypoalphalipoproteinemia, Primary, 2 29
714 ECT003 Ectopic Thymus 29
715 TST007 Testicular Infarct 29
716 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 29
717 OVR015 Ovarian Mixed Germ Cell Neoplasm 29
718 THY108 Thymic Neuroendocrine Tumor 29
719 ACD001 Acidophil Adenoma 29
720 SPT016 Septopreoptic Holoprosencephaly 28
721 OVR017 Ovarian Cystic Teratoma 28
722 THY039 Thyrotropin-Releasing Hormone Deficiency 28
723 c ACQ043 Acquired Lipodystrophy 28
724 CYS015 Cystadenofibroma 28
725 PPM002 Ppoma 28
726 c TYP035 Type 1 Diabetes Mellitus 11 28
727 PRD001 Predominantly Cortical Thymoma 28
728 THY024 Thymus Adenocarcinoma 27
729 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27
730 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
731 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 27
732 c TYP037 Type 1 Diabetes Mellitus 13 27
733 c TYP033 Type 1 Diabetes Mellitus 7 27
734 ENT006 Enterokinase Deficiency 27
735 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 27
736 c TYP028 Type 1 Diabetes Mellitus 2 27
737 P TST016 Testicular Granulosa Cell Tumor 27
738 NTM001 Nutmeg Liver 27
739 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 27
740 EPS001 Epstein-Barr Virus Hepatitis 27
741 PTT016 Patterson Pseudoleprechaunism Syndrome 27
742 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 26
743 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 26
744 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 26
745 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 26
746 c TYP031 Type 1 Diabetes Mellitus 5 26
747 MXD027 Mixed Type Thymoma 26
748 GGN004 Gigantomastia 26
749 GLC043 Glucocorticoid Deficiency 2 26
750 END036 Endocrine Organ Benign Neoplasm 26
751 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
752 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
753 c INF138 Infantile Liver Failure Syndrome 2 25
754 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 25
755 c PRX066 Peroxisome Biogenesis Disorder 3b 25
756 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
757 MTR011 Mature Teratoma of the Ovary 25
758 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 24
759 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 24
760 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 24
761 c RRH009 Rare Hypothyroidism 24
762 PNL023 Penile Agenesis 24
763 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 24
764 GNT043 Genitopalatocardiac Syndrome 24
765 ADL056 Adult Pineal Parenchymal Tumor 24
766 THY020 Thyroid Hyalinizing Trabecular Adenoma 23
767 NNF001 Non-Functioning Pancreatic Endocrine Tumor 23
768 c SYN140 Syndrome with 46,xy Disorder of Sex Development 23
769 c TYP036 Type 1 Diabetes Mellitus 12 23
770 FNC050 Functioning Gonadotropic Adenoma 23
771 c HYP163 Hyperlipidemia Type 3 23
772 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 23
773 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 23
774 PDT003 Pediatric Ovarian Dysgerminoma 23
775 c TYP034 Type 1 Diabetes Mellitus 8 22
776 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 22
777 THY016 Thyroid Hurthle Cell Adenoma 22
778 c MLT120 Multiple Fibroadenomas of the Breast 22
779 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 22
780 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 22
781 c TYP038 Type 1 Diabetes Mellitus 15 22
782 c PSD047 Pseudo-Turner Syndrome 22
783 MLG078 Malignant Pineal Area Germ Cell Neoplasm 22
784 DST011 Distal Chromosome 18q Deletion Syndrome 21
785 c TYP030 Type 1 Diabetes Mellitus 4 21
786 c TYP039 Type 1 Diabetes Mellitus 17 21
787 THY106 Thyroglossal Duct Cyst, Familial 21
788 c ATM050 Autoimmune Thyroid Disease 3 21
789 c TYP040 Type 1 Diabetes Mellitus 18 21
790 MXD014 Mixed Ductal-Endocrine Carcinoma 21
791 c 46X011 46, Xy Disorders of Sexual Development 20
792 NNC009 Non-Acquired Combined Pituitary Hormone Deficiency 20
793 c ACQ034 Acquired Central Diabetes Insipidus 20
794 HYP645 Hyperthyroxinemia, Dystransthyretinemic 20
795 SBC005 Subacute Lymphocytic Thyroiditis 20
796 c CHR695 Chronic Primary Adrenal Insufficiency 20
797 OVR057 Ovarian Serous Adenofibroma 19
798 CHF001 Chief Cell Adenoma 19
799 c TYP010 Type C Thymoma 19
800 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 19
801 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 19
802 c HRD156 Hereditary Central Diabetes Insipidus 19
803 BMF002 Bamforth Syndrome 19
804 PRM331 Primary Hypophysitis 19
805 DDN028 Duodenal Neuroendocrine Tumor 19
806 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 19
807 BNG086 Bangstad Syndrome 18
808 c TYP029 Type 1 Diabetes Mellitus 3 18
809 NNF008 Non-Functioning Paraganglioma 18
810 PNH004 Panhypophysitis 18
811 PNL011 Pineal Region Germinoma 18
812 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 18
813 MYP026 Myopathy - Thyrotoxic 17
814 GRN002 Granulomatous Orchitis 17
815 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
816 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 17
817 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 17
818 TST040 Testicular Trophoblastic Tumor 17
819 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 17
820 c BLR016 Biliary Cirrhosis, Primary, 2 17
821 TST005 Testicular Gonadoblastoma 16
822 PLY003 Polycystic Echinococcosis 16
823 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 16
824 CMB001 Combined Thymoma 16
825 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 16
826 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 16
827 c GRV009 Graves Disease 2 16
828 P PRM210 Primary Lipodystrophy 16
829 BLT017 Bilateral Massive Adrenal Hemorrhage 16
830 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 16
831 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 15
832 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 15
833 TST041 Testicular Germ Cell Tumor Non-Seminomatous 15
834 TST012 Testicular Fibroma 15
835 OVR056 Ovarian Primitive Germ Cell Tumor 15
836 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 14
837 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 14
838 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 14
839 LTN011 Late-Onset Isolated Acth Deficiency 14
840 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
841 c ATM056 Autoimmune Thyroid Disease 1 14
842 XLN113 X-Linked Intellectual Disability, Van Esch Type 14
843 LVR001 Liver Lipoma 14
844 c BLR025 Biliary Cirrhosis, Primary, 4 13
845 c BLR026 Biliary Cirrhosis, Primary, 5 13
846 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
847 NRH002 Neurohypophysis Granular Cell Tumor 13
848 GLL034 Gallbladder Neuroendocrine Tumor 13
849 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 13
850 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 13
851 INF124 Infundibulo-Neurohypophysitis 13
852 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 13
853 c ATM057 Autoimmune Thyroid Disease 2 13
854 c BLR017 Biliary Cirrhosis, Primary, 3 13
855 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 12
856 PPL010 Papillary Follicular Thyroid Adenocarcinoma 12
857 MYX002 Myxoid Liposarcoma of the Ovary 12
858 c CNG342 Congenital Central Diabetes Insipidus 12
859 HYP852 Hypocalcemic Rickets 12
860 c THY008 Thymus Small Cell Carcinoma 12
861 SXC004 Sex Chromosome Disorder of Sex Development 12
862 MYT025 Myotubular Myopathy with Abnormal Genital Development 12
863 MXD024 Mixed Epithelial Tumor of Ovary 12
864 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 12
865 RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 11
866 c RRH011 Rare Hyperparathyroidism 11
867 XLN112 X-Linked Intellectual Disability, Cilliers Type 11
868 PNL015 Pineal Region Teratoma 11
869 c ATM058 Autoimmune Thyroid Disease 4 11
870 NNN001 Nonencapsulated Sclerosing Carcinoma 11
871 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 11
872 NLL003 Null Pituitary Adenoma 11
873 HRD017 Hordeolum Externum 11
874 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 11
875 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 10
876 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
877 OVR039 Ovarian Mesodermal Adenosarcoma 10
878 PDT046 Pediatric-Onset Graves Disease 10
879 c PRD025 Prader-Willi Syndrome Due to Imprinting Mutation 10
880 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 10
881 XSM001 X Small Rings 10
882 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 10
883 LVR007 Liver Fibroma 10
884 c RRP004 Rare Primary Hyperaldosteronism 10
885 TST013 Testicular Thecoma 9
886 c ADL043 Adult Type Testicular Granulosa Cell Tumor 9
887 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 9
888 PTT062 Pituitary Deficiency Due to Rathke's Cleft Cysts 9
889 OBS060 Obesity Due to Sim1 Deficiency 9
890 c RRD012 Rare Diabetes Mellitus Type 1 9
891 ECT055 Ectopic Aldosterone-Producing Tumor 9
892 TST011 Testis Rhabdomyosarcoma 9
893 PNL010 Pineal Region Yolk Sac Tumor 9
894 PNC026 Pancreatic Mucinous Ductal Ectasia 9
895 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 9
896 PNL005 Pineal Region Immature Teratoma 9
897 IDP061 Idiopathic Congenital Hypothyroidism 8
898 EPD012 Epididymal Neoplasm 8
899 PTT039 Pituitary Dermoid and Epidermoid Cysts 8
900 PNN006 Panniculitis-Induced Localized Lipodystrophy 8
901 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
902 PNC024 Pancreatic Colloid Cystadenoma 8
903 SYN101 Syndromic Hypothyroidism 8
904 RRD066 Rare Dyslipidemia 8
905 P RRT025 Rare Thyroid Disease 8
906 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 7
907 c RRD011 Rare Disorder with Hypogonadotropic Hypogonadism 7
908 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 7
909 c RRD067 Rare Diabetes Mellitus 7
910 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
911 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
912 OVR019 Ovarian Malignant Mesothelioma 7
913 P RRH006 Rare Hyperlipidemia 7
914 c PRT125 Parotitis, Juvenile Recurrent 7
915 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
916 c MLG040 Malignant Type Ab Thymoma 6
917 c MLG034 Malignant Type a Thymoma 6
918 CHL011 Childhood Immature Teratoma of Ovary 6
919 OVR036 Ovarian Endometrioid Cystadenofibroma 6
920 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 6
921 GST003 Gastrin Secretion Abnormality 6
922 MKT001 Mikati-Najjar-Sahli Syndrome 6
923 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 6
924 OVR014 Ovarian Clear Cell Cystadenofibroma 5
925 PLY009 Polyembryoma of the Ovary 5
926 MXD004 Mixed Eosinophil-Basophil Adenoma 5
927 DZX004 Diazoxide-Sensitive Diffuse Hyperinsulinism 5
928 c ATS423 Autosomal Dominant Wolfram Syndrome 5
929 TST042 Testicular Pure Germ Cell Tumor 5
930 TBL005 Tubular Variant Testicular Seminoma 5
931 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
932 CRB003 Cribriform Variant Testicular Seminoma 5
933 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
934 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
935 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
936 PSD013 Pseudoglandular Variant Testicular Seminoma 5
937 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
938 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
939 ACQ065 Acquired Pituitary Hormone Deficiency 5
940 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
941 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 5
942 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
943 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 4
944 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
945 NNR001 Non-Renal Secondary Hyperparathyroidism 4
946 FML019 Familiar Ovarian Carcinoma 4
947 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
948 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
949 NNC015 Non-Acquired Combined Pituitary Hormone Deficiencies Without Extra-Pituitary Malformations 4
950 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
951 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
952 c OVR071 Ovarian Insufficiency, Familial 4
953 c RRD014 Rare Adult Hypothyroidism 4
954 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
955 P SYC001 Say Carpenter Syndrome 4
956 DZX003 Diazoxide-Resistant Diffuse Hyperinsulinism 4
957 RRH007 Rare Hypolipidemia 4
958 RRH003 Rare Hypothalamic or Pituitary Disease 3
959 OBS083 Obesity Due to Congenital Leptin Resistance 3
960 PTT066 Pituitary Hormone Deficiency of Meningeal Origin 3
961 PTT067 Pituitary Hormone Deficiency of Tumoral Origin 3
962 DSS031 Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency 3
963 c ACQ068 Acquired Chronic Primary Adrenal Insufficiency 3
964 MLT176 Multiple Polyglandular Tumor 3
965 c GNT178 Genetic Chronic Primary Adrenal Insufficiency 3
966 HYP849 Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies 3
967 OTH013 Other Rare Diabetes Mellitus 3
968 c 46X067 46,xx Disorder of Gonadal Development 3
969 ADR058 Adrenal/paraganglial Tumor 3
970 NNS030 Non-Secreting Chemodectoma 2
971 MLN047 Melanoma-Pancreatic Cancer Syndrome 31
972 RRC013 Rare Carcinoma of Pancreas 32
973 IMM177 Immunodeficiency 54 29
974 c THY109 Thyroid Cancer, Nonmedullary, 1 58
975 c PRG018 Paragangliomas 1 58
976 ADR038 Adermatoglyphia 48
977 c THY101 Thyroid Cancer, Nonmedullary, 5 20
978 c THY100 Thyroid Cancer, Nonmedullary, 4 19
979 P FML354 Familial Nonmedullary Thyroid Carcinoma 15
980 c THY117 Thyroid Cancer, Nonmedullary, 3 14
981 IGG007 Igg4-Related Disease 46
982 CYL004 Cylindromatosis, Familial 39
983 WTK002 Witkop Syndrome 37
984 WBB001 Webb-Dattani Syndrome 20
985 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 18
986 FRS005 Fraser Jequier Chen Syndrome 6
987 PNC125 Pancreatic Lymphoma, Familial 6
988 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91
989 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 82
990 c HYP836 Hypercholesterolemia, Familial, 1 74
991 c HMC039 Hemochromatosis, Type 1 73
992 VNH007 Von Hippel-Lindau Syndrome 73
993 P HPT021 Hepatitis 69
994 HYP056 Hypoglycemia 68
995 ADR054 Adrenocortical Carcinoma, Hereditary 68
996 c FML021 Familial Hypercholesterolemia 67
997 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
998 P HYP069 Hyperparathyroidism 64
999 OVR029 Ovarian Hyperstimulation Syndrome 63
1000 PTT046 Pituitary Hormone Deficiency, Combined, 2 62
1001 CRB011 Cerebrotendinous Xanthomatosis 61
1002 P PNC044 Pancreatitis 61
1003 ALS001 Alstrom Syndrome 60
1004 ALC006 Alcoholic Hepatitis 60
1005 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
1006 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59
1007 CLS005 Clouston Syndrome 59
1008 DBT087 Diabetes Insipidus, Neurohypophyseal 59
1009 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 58
1010 P HYP024 Hypoparathyroidism 56
1011 P ACT010 Acth-Secreting Pituitary Adenoma 55
1012 VSC003 Visceral Leishmaniasis 55
1013 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 55
1014 THY124 Thyroid Gland Papillary Carcinoma 54
1015 PTT009 Pituitary Gland Disease 54
1016 ZLL002 Zollinger-Ellison Syndrome 54
1017 ADR008 Adrenal Adenoma 54
1018 P HYP083 Hypopituitarism 53
1019 DFF036 Differentiated Thyroid Carcinoma 53
1020 P PRG013 Paraganglioma 53
1021 P PRS049 Persistent Mullerian Duct Syndrome 53
1022 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 53
1023 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
1024 ALC009 Alcoholic Liver Cirrhosis 53
1025 PDT042 Pediatric Hepatocellular Carcinoma 53
1026 c HYP841 Hypoalphalipoproteinemia, Primary, 1 53
1027 c HYP740 Hyperlipoproteinemia, Type V 53
1028 THY123 Thyroid Gland Follicular Carcinoma 52
1029 LVR002 Liver Angiosarcoma 52
1030 THY125 Thyroid Gland Medullary Carcinoma 52
1031 P VND007 Van Der Woude Syndrome 1 52
1032 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 52
1033 PNC034 Pancreas Disease 51
1034 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 51
1035 c HMC021 Hemochromatosis, Type 2a 51
1036 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
1037 IMM064 Immunodeficiency, Common Variable, 10 51
1038 P NNT009 Neonatal Diabetes Mellitus 50
1039 PRT018 Portal Vein Thrombosis 50
1040 c PTT057 Pituitary Adenoma 4, Acth-Secreting 50
1041 PTT041 Pituitary Stalk Interruption Syndrome 50
1042 ADN009 Adenosquamous Carcinoma 50
1043 P PRC038 Precocious Puberty, Male-Limited 50
1044 ONC007 Oncocytoma 50
1045 TST044 Testicular Torsion 49
1046 SMT003 Somatostatinoma 49
1047 PGT003 Paget Disease, Extramammary 49
1048 P OVR106 Ovarian Clear Cell Carcinoma 49
1049 JHN001 Johanson-Blizzard Syndrome 49
1050 END031 Endometrial Stromal Sarcoma 49
1051 c HMC035 Hemochromatosis, Type 4 49
1052 P PRC019 Precocious Puberty 48
1053 NRN001 Neuroendocrine Carcinoma 48
1054 HMZ003 Homozygous Familial Hypercholesterolemia 48
1055 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 48
1056 c HYP837 Hypercholesterolemia, Familial, 2 48
1057 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 47
1058 ISL001 Islet Cell Tumor 47
1059 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 46
1060 PLR023 Polr3-Related Leukodystrophy 46
1061 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 46
1062 c HYP840 Hypercholesterolemia, Familial, 4 46
1063 END035 Endocrine Gland Cancer 46
1064 c ACT150 Acute Adrenal Insufficiency 46
1065 c HMC010 Hemochromatosis, Type 3 46
1066 SHH001 Sheehan Syndrome 46
1067 BRR012 Berardinelli-Seip Congenital Lipodystrophy 46
1068 DYS101 Dysgerminoma 45
1069 c HMC009 Hemochromatosis Type 2 45
1070 P SXD002 Sex Development Disorder 45
1071 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 45
1072 INP001 Inappropriate Adh Syndrome 45
1073 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 45
1074 P ATM019 Autoimmune Polyendocrine Syndrome 45
1075 c HYP272 Hypercholesterolemia, Familial, 3 44
1076 P HYP599 Hypoparathyroidism, Familial Isolated 44
1077 P HYP347 Hypotonia-Cystinuria Syndrome 44
1078 NLS001 Nelson Syndrome 44
1079 c HYP243 Hyperparathyroidism 1 44
1080 CRT046 Corticosteroid-Binding Globulin Deficiency 43
1081 EMP001 Empty Sella Syndrome 43
1082 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 43
1083 c FML297 Familial Thyroid Dyshormonogenesis 43
1084 ECC004 Eccrine Porocarcinoma 43
1085 CRN055 Carney Triad 42
1086 PRS042 Prostate Disease 42
1087 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 42
1088 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 42
1089 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 42
1090 TRP009 Triple X Syndrome 42
1091 P FML156 Familial Hyperaldosteronism 41
1092 DRG002 Drug-Induced Hepatitis 41
1093 P GRW001 Growth Hormone Secreting Pituitary Adenoma 41
1094 P RRH023 Rare Hereditary Hemochromatosis 41
1095 ARC007 Arachnoid Cysts 40
1096 NNF007 Non-Functioning Pituitary Adenoma 40
1097 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 40
1098 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 40
1099 OVR060 Ovary Epithelial Cancer 40
1100 c SBC007 Subacute Thyroiditis 40
1101 TST018 Testicular Yolk Sac Tumor 39
1102 SML028 Semilobar Holoprosencephaly 39
1103 PNC118 Pancreas, Annular 39
1104 HYP835 Hypothalamic Obesity 39
1105 LBR025 Lobar Holoprosencephaly 39
1106 RTN072 Retinohepatoendocrinologic Syndrome 39
1107 HRT040 Hirata Disease 39
1108 P SRT003 Sertoli-Leydig Cell Tumor 38
1109 OHD005 Ohdo Syndrome, Sbbys Variant 38
1110 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 38
1111 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 38
1112 ACT245 Acth-Dependent Cushing Syndrome 38
1113 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 37
1114 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 37
1115 OVR105 Ovarian Serous Carcinoma 37
1116 HRM003 Hormone Producing Pituitary Cancer 37
1117 OVR034 Ovarian Clear Cell Adenocarcinoma 37
1118 HPT008 Hepatic Tuberculosis 37
1119 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 37
1120 ALB014 Alobar Holoprosencephaly 37
1121 c LYD012 Leydig Cell Hypoplasia, Type I 37
1122 PNC018 Pancreatic Serous Cystadenoma 36
1123 NST002 Nestor-Guillermo Progeria Syndrome 36
1124 CRT020 Cortisone Reductase Deficiency 35
1125 CHR075 Choriocarcinoma of Ovary 35
1126 GNT167 Genetic Obesity 35
1127 PNC039 Pancreatic Cystadenoma 35
1128 PNC016 Pancreatic Cholera 35
1129 OVR104 Ovarian Melanoma 35
1130 TST003 Testicular Leukemia 34
1131 TST004 Testicular Lymphoma 34
1132 OVR011 Ovarian Mucinous Adenocarcinoma 34
1133 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 34
1134 HYP737 Hyperhidrosis, Gustatory 34
1135 c HMC034 Hemochromatosis, Type 5 34
1136 CHR034 Chromophobe Adenoma 34
1137 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 34
1138 PNC019 Pancreatoblastoma 34
1139 PNC038 Pancreatic Cystadenocarcinoma 33
1140 GBL002 Goblet Cell Carcinoid 33
1141 c FML157 Familial Male-Limited Precocious Puberty 33
1142 LPS020 Lipase Deficiency, Combined 33
1143 ADR057 Adrenogenital Syndrome 33
1144 BRD005 Borderline Leprosy 33
1145 P TST001 Testicular Leydig Cell Tumor 32
1146 P HRD022 Hordeolum 32
1147 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
1148 c LCL022 Localized Lipodystrophy 32
1149 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 32
1150 PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 32
1151 c JVN024 Juvenile Hereditary Hemochromatosis 32
1152 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 32
1153 DDN002 Duodenal Gastrinoma 31
1154 c PRC047 Precocious Puberty, Central, 1 31
1155 PSD119 Pseudohypoparathyroidism with Albright Hereditary Osteodystrophy 31
1156 OVR013 Ovarian Mucinous Cystadenocarcinoma 31
1157 GRW023 Growth Hormone Deficiency, Isolated Partial 31
1158 OVR054 Ovarian Mucinous Neoplasm 30
1159 c INV003 Invasive Malignant Thymoma 30
1160 LVR006 Liver Lymphoma 30
1161 PNC006 Pancreatic Somatostatinoma 30
1162 5LP001 5-Alpha Reductase Deficiency 29
1163 ADR001 Adrenal Rest Tumor 29
1164 SPR018 Spermatocytoma 29
1165 P TST048 Testicular Sex Cord-Stromal Neoplasm 28
1166 THY031 Thyroid Sarcoma 28
1167 PNC027 Pancreatic Gastrinoma 28
1168 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 28
1169 SPN048 Spindle Cell Thymoma 28
1170 OVR123 Ovarian Seromucinous Carcinoma 28
1171 BRN137 Bronchial Neuroendocrine Tumor 28
1172 OVR041 Ovarian Benign Neoplasm 27
1173 CPL001 Capillariasis 27
1174 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
1175 HMT001 Hematocele of Tunica Vaginalis Testis 27
1176 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
1177 c PRX058 Peroxisome Biogenesis Disorder 4b 26
1178 RCT005 Rectum Neuroendocrine Neoplasm 26
1179 IND004 Indeterminate Leprosy 26
1180 DCR009 Dicer1-Related Disorders 26
1181 LVR031 Liver Benign Neoplasm 26
1182 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
1183 KWR001 Kowarski Syndrome 26
1184 FNC003 Functionless Pituitary Adenoma 26
1185 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
1186 TST010 Testicular Spermatocytic Seminoma 25
1187 P KNN002 Kenny-Caffey Syndrome 25
1188 PGD001 Pagod Syndrome 25
1189 THY026 Thymus Gland Disease 25
1190 ADR003 Adrenal Neuroblastoma 25
1191 IMM005 Immature Teratoma of Ovary 25
1192 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 25
1193 c HYP720 Hyperparathyroidism 4 24
1194 c VND004 Van Der Woude Syndrome 2 24
1195 c HMC019 Hemochromatosis, Type 2b 24
1196 c HYP311 Hyperparathyroidism 3 24
1197 HYP344 Hyperthyroidism, Familial Gestational 24
1198 UVP001 Uveoparotid Fever 24
1199 OVR061 Ovary Sarcoma 24
1200 SCN001 Secondary Hyperparathyroidism of Renal Origin 23
1201 CSH006 Cushing Syndrome Due to Macronodular Adrenal Hyperplasia 23
1202 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 23
1203 ARD001 Aredyld 23
1204 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 23
1205 HPT011 Hepatocellular Clear Cell Carcinoma 23
1206 P PRX064 Peroxisome Biogenesis Disorder 2b 23
1207 MXD007 Mixed Hepatoblastoma 23
1208 CRT005 Cortical Thymoma 23
1209 48X002 48,xxxy Syndrome 23
1210 c PRC046 Precocious Puberty, Central, 2 23
1211 MTC025 Mitochondrial Myopathy with Diabetes 23
1212 OVR027 Ovarian Squamous Cell Carcinoma 23
1213 ANS010 Anus Adenocarcinoma 23
1214 HYP683 Hypogonadism-Cataract Syndrome 23
1215 DFN313 Deafness-Hypogonadism Syndrome 22
1216 c HYP819 Hyperlipoproteinemia, Type Id 22
1217 TLL001 Tall Cell Variant Papillary Carcinoma 22
1218 OVR002 Ovarian Serous Cystadenofibroma 22
1219 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
1220 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 22
1221 FTL005 Fetal Adenoma 21
1222 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 21
1223 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 21
1224 PDT022 Pediatric Ovarian Germ Cell Tumor 21
1225 OVR026 Ovary Transitional Cell Carcinoma 21
1226 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 21
1227 c THY018 Thymus Clear Cell Carcinoma 20
1228 c INS009 Insulin-Resistance Type B 20
1229 BSP001 Basophil Adenoma 20
1230 ENC001 Encapsulated Thymoma 20
1231 TTR018 Tetragametic Chimerism 20
1232 PNC126 Pancreatic Squamous Cell Carcinoma 20
1233 PNC031 Pancreatic Foamy Gland Adenocarcinoma 19
1234 THY127 Thyroid Gland Hurthle Cell Carcinoma 19
1235 c MLG053 Malignant Ovarian Brenner Tumor 19
1236 PNL009 Pineal Region Choriocarcinoma 19
1237 ILL008 Ileal Neuroendocrine Tumor 19
1238 LVR010 Liver Leiomyosarcoma 18
1239 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 18
1240 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 18
1241 DND003 Dendritic Cell Thymoma 18
1242 NRN045 Neuroendocrine Neoplasm of Appendix 18
1243 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 17
1244 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 17
1245 THY126 Thyroid Gland Mucoepidermoid Carcinoma 16
1246 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
1247 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
1248 HYD021 Hydrocephalus Obesity Hypogonadism 16
1249 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
1250 SMT017 Somatomammotropinoma 16
1251 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 15
1252 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 15
1253 MLT005 Multicentric Papillary Thyroid Carcinoma 15
1254 PPL015 Papillary Thymic Adenocarcinoma 15
1255 LVR009 Liver Rhabdomyosarcoma 15
1256 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 15
1257 THY010 Thymus Mucoepidermoid Carcinoma 15
1258 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1259 GRF006 Grfoma 15
1260 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 15
1261 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 15
1262 PNL001 Pineal Gland Astrocytoma 15
1263 GST035 Gestational Ovarian Choriocarcinoma 15
1264 THY017 Thymus Sarcomatoid Carcinoma 14
1265 THY011 Thymus Basaloid Carcinoma 14
1266 THY092 Thymic Neuroendocrine Carcinoma 14
1267 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1268 OVR033 Ovary Papillary Carcinoma 14
1269 DGS008 Digestive System Melanoma 13
1270 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 13
1271 c INT047 Internal Hordeolum 13
1272 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 13
1273 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
1274 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 12
1275 P OVR045 Ovarian Clear Cell Adenofibroma 12
1276 TST019 Testis Sarcoma 12
1277 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 12
1278 BRS039 Breast Fibroadenosis 12
1279 NNN002 Noninvasive Malignant Thymoma 12
1280 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 12
1281 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 12
1282 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
1283 P OVR052 Ovarian Endometrioid Adenofibroma 11
1284 PRM146 Primary Unilateral Adrenal Hyperplasia 11
1285 GNT041 Genetic Lipodystrophy 11
1286 MLG159 Malignant Pediatric Adrenal Gland Pheochromocytoma 11
1287 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 11
1288 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 11
1289 JJN009 Jejunal Neuroendocrine Tumor 10
1290 46X015 46,xy Ovotesticular Disorder of Sex Development 10
1291 c FML072 Familial Hypopituitarism 10
1292 PDT023 Pediatric Testicular Germ Cell Tumor 10
1293 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 10
1294 TRB001 Trabecular Follicular Adenocarcinoma 9
1295 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 9
1296 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 9
1297 BSP005 Basophilic Adenocarcinoma 9
1298 OVR055 Ovarian Papillary Neoplasm 9
1299 PRP104 Prepubertal Anorexia Nervosa 9
1300 RRP032 Rare Parathyroid Tumor 8
1301 TBR005 Tuberculous Oophoritis 8
1302 CLM001 Columnar Cell Variant Papillary Carcinoma 8
1303 MLG017 Malignant Tumor of Undescended Testis 8
1304 TST009 Testis Refractory Cancer 7
1305 c RRP025 Rare Precocious Puberty 7
1306 TST002 Testicular Brenner Tumor 7
1307 RTV002 Rete Ovarii Adenocarcinoma 7
1308 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 7
1309 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1310 MDD017 Middle Ear Neuroendocrine Tumor 7
1311 OVR032 Ovarian Surface Papilloma 7
1312 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1313 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1314 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 6
1315 c RRH010 Rare Hypoparathyroidism 6
1316 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1317 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1318 CHL036 Childhood Mature Teratoma of the Ovary 6
1319 c MLG021 Malignant Sertoli-Leydig Cell Tumor 6
1320 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 6
1321 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 6
1322 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1323 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 6
1324 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 6
1325 PNC029 Pancreatic Acth Hormone Producing Tumor 6
1326 c PRD024 Prader-Willi Syndrome Due to Translocation 6
1327 XLN202 X-Linked Acrogigantism Due to a Point Mutation 6
1328 ADR006 Adrenal Gland Ganglioneuroblastoma 5
1329 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1330 c MLG009 Malignant Testicular Leydig Cell Tumor 5
1331 P RRH027 Rare Hypercholesterolemia 5
1332 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1333 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
1334 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
1335 P RRD068 Rare Adrenal Disease 5
1336 P RRN005 Rare Insulin-Resistance Syndrome 5
1337 MXD018 Mixed Cell Type Adenoma of Parathyroid 5
1338 PRT020 Parathyroid Oncocytic Adenoma 5
1339 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1340 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
1341 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
1342 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1343 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 4
1344 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 4
1345 NNC017 Non-Acquired Pituitary Hormone Deficiency 4
1346 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
1347 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
1348 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 4
1349 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
1350 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 4
1351 RRP003 Rare Peripheral Precocious Puberty 3
1352 RRS009 Rare Surgically Correctable Form of Primary Aldosteronism 3
1353 RRN011 Rare Non Surgically Correctable Form of Primary Aldosteronism 3
1354 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
1355 GNT051 Genetic Non-Syndromic Obesity 3
1356 PTT064 Pituitary Hormone Deficiency Secondary to Storage Disease 3
1357 PTT065 Pituitary Hormone Deficiency Secondary to a Granulomatous Disease 3
1358 RRS005 Rare Syndromic Dyslipidemia 3
1359 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 3
1360 RRD020 Rare Disease with Cushing Syndrome As a Major Feature 3
1361 RRN018 Rare Endocrine Growth Disease 3
1362 NRN048 Neuroendocrine Tumor with Other Location 3
1363 DYS002 Dysplastic Nevus Syndrome 42
1364 P OVR042 Ovarian Cancer 89
1365 INS024 Insulin-Like Growth Factor I 79
1366 CNN003 Conn's Syndrome 78
1367 P HYP724 Hyperlipoproteinemia, Type Iii 74
1368 c HPT073 Hepatitis C Virus 74
1369 ACR007 Acromegaly 70
1370 c PNC108 Pancreatitis, Hereditary 70
1371 P HYP802 Hypocalcemia, Autosomal Dominant 1 69
1372 P MYC084 Mycobacterium Tuberculosis 1 69
1373 PNC129 Pancreatic Adenocarcinoma 69
1374 c MYT021 Myotonic Dystrophy 1 68
1375 P MTR004 Maturity-Onset Diabetes of the Young 66
1376 P BRD002 Bardet-Biedl Syndrome 66
1377 P NPH012 Nephrotic Syndrome 65
1378 CLR108 Colorectal Adenoma 64
1379 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 64
1380 HSH003 Hashimoto Thyroiditis 63
1381 c HPT016 Hepatitis B 63
1382 c ATM011 Autoimmune Hepatitis 63
1383 P CRN038 Carney Complex Variant 63
1384 LRN002 Laron Syndrome 62
1385 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 62
1386 c HPT001 Hepatitis C 62
1387 PTT048 Pituitary Adenoma, Prolactin-Secreting 61
1388 P SHW006 Shwachman-Diamond Syndrome 1 61
1389 c BRD010 Bardet-Biedl Syndrome 1 61
1390 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 61
1391 c HPT003 Hepatitis a 60
1392 THY122 Thyroid Gland Cancer 59
1393 P MLT074 Multiple Endocrine Neoplasia 59
1394 P MCR256 Microphthalmia, Syndromic 9 59
1395 c PTT056 Pituitary Adenoma 1, Multiple Types 59
1396 P AXN002 Axenfeld-Rieger Syndrome 58
1397 c HYP731 Hyperaldosteronism, Familial, Type I 57
1398 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 57
1399 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
1400 c BRD014 Bardet-Biedl Syndrome 2 56
1401 c VRL010 Viral Hepatitis 56
1402 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 56
1403 c NPH055 Nephrotic Syndrome, Type 1 56
1404 AND020 Androgen Insensitivity, Partial 56
1405 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1406 CRC006 Carcinoid Syndrome 55
1407 RNL051 Renal Cysts and Diabetes Syndrome 54
1408 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
1409 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
1410 SMT008 Smith-Magenis Syndrome 53
1411 c HPT007 Hepatitis E 53
1412 c AXN009 Axenfeld-Rieger Syndrome, Type 1 53
1413 THY022 Thymic Carcinoma 52
1414 P MYT002 Myotonic Dystrophy 52
1415 c AXN010 Axenfeld-Rieger Syndrome, Type 3 51
1416 PNC041 Pancreatic Ductal Adenocarcinoma 51
1417 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51
1418 c ATM024 Autoimmune Pancreatitis 50
1419 ISL003 Isolated Growth Hormone Deficiency 50
1420 c HYP739 Hyperlipoproteinemia, Type Iv 50
1421 FML026 Familial Lipoprotein Lipase Deficiency 49
1422 c LPD021 Lipodystrophy, Familial Partial, Type 3 49
1423 c HPT015 Hepatitis D 49
1424 TST015 Testicular Disease 49
1425 c BRD016 Bardet-Biedl Syndrome 4 48
1426 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 48
1427 GLC106 Glucocorticoid Resistance, Generalized 48
1428 HPT025 Hepatic Lipase Deficiency 47
1429 GLY014 Glycerol Kinase Deficiency 47
1430 LPT006 Leptin Receptor Deficiency 47
1431 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 46
1432 NNT017 Neonatal Adrenoleukodystrophy 46
1433 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1434 P DFF019 Diffuse Gastric Cancer 46
1435 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 46
1436 DRM013 Dermoid Cyst 46
1437 c BRD013 Bardet-Biedl Syndrome 12 46
1438 c PSD092 Pseudohypoaldosteronism, Type Iie 45
1439 END002 Endometrioid Ovary Carcinoma 45
1440 c BRD044 Bardet-Biedl Syndrome 17 45
1441 P PSD003 Pseudohypoaldosteronism 45
1442 PTT008 Pituitary Carcinoma 45
1443 c BRD018 Bardet-Biedl Syndrome 6 45
1444 CHN054 Chondrodysplasia, Blomstrand Type 45
1445 c NPH049 Nephrotic Syndrome, Type 2 45
1446 c BRD015 Bardet-Biedl Syndrome 3 45
1447 c BRD020 Bardet-Biedl Syndrome 8 45
1448 c BRD033 Bardet-Biedl Syndrome 13 44
1449 LPP002 Lipoprotein Glomerulopathy 44
1450 CLN003 Clonorchiasis 44
1451 c MCR261 Microphthalmia, Syndromic 2 44
1452 FNC007 Functioning Pituitary Adenoma 44
1453 ADR004 Adrenal Cortical Adenocarcinoma 44
1454 ONC003 Oncogenic Osteomalacia 44
1455 PNC013 Pancreatic Ductal Carcinoma 44
1456 APP009 Appendix Adenocarcinoma 43
1457 c BRD012 Bardet-Biedl Syndrome 11 43
1458 c MCR241 Microphthalmia, Syndromic 3 43
1459 c BRD011 Bardet-Biedl Syndrome 10 43
1460 c CRN243 Carney Complex, Type 1 43
1461 OVR044 Ovarian Carcinosarcoma 42
1462 c BRD017 Bardet-Biedl Syndrome 5 42
1463 c NPH054 Nephrotic Syndrome, Type 3 42
1464 c BRD032 Bardet-Biedl Syndrome 14 42
1465 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
1466 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
1467 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 41
1468 BSM002 Bosma Arhinia Microphthalmia Syndrome 40
1469 c FML015 Familial Nephrotic Syndrome 40
1470 c LPD040 Lipodystrophy, Familial Partial, Type 1 40
1471 PNL014 Pineal Gland Cancer 40
1472 c BRD048 Bardet-Biedl Syndrome 18 40
1473 c OVR114 Ovarian Cancer 1 39
1474 49X002 49,xxxxy Syndrome 39
1475 WTR001 Waterhouse-Friderichsen Syndrome 39
1476 c NPH070 Nephrotic Syndrome, Type 6 39
1477 c BRD035 Bardet-Biedl Syndrome 15 39
1478 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
1479 c MCR263 Microphthalmia, Syndromic 1 39
1480 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 38
1481 WDH003 Woodhouse-Sakati Syndrome 38
1482 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 38
1483 KRK001 Krukenberg Carcinoma 38
1484 PRL010 Prolactin Producing Pituitary Tumor 38
1485 c BRD047 Bardet-Biedl Syndrome 16 37
1486 OVR050 Ovarian Embryonal Carcinoma 37
1487 P PHS005 Peho Syndrome 37
1488 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1489 OVR047 Ovarian Cystadenocarcinoma 37
1490 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
1491 MHM001 Mehmo Syndrome 37
1492 c BRD019 Bardet-Biedl Syndrome 7 37
1493 PNC008 Pancreatic Endocrine Carcinoma 36
1494 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 36
1495 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 36
1496 GST004 Gastric Neuroendocrine Neoplasm 36
1497 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
1498 DNC004 Diencephalic Syndrome 36
1499 c FML353 Familial Ovarian Cancer 35
1500 CHR525 Chromosome Xq26.3 Duplication Syndrome 35
1501 c MCR312 Microphthalmia, Syndromic 10 34
1502 PNC015 Pancreatic Acinar Cell Adenocarcinoma 34
1503 c MCR251 Microphthalmia, Syndromic 6 34
1504 GRW026 Growth Hormone Insensitivity, Partial 33
1505 c BRD045 Bardet-Biedl Syndrome 19 33
1506 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 33
1507 c MCR245 Microphthalmia, Syndromic 8 33
1508 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 33
1509 OVR062 Ovary Serous Adenocarcinoma 33
1510 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1511 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1512 c NPH072 Nephrotic Syndrome, Type 7 32
1513 c NPH047 Nephrotic Syndrome, Type 4 32
1514 c MCR252 Microphthalmia, Syndromic 5 32
1515 c BRD021 Bardet-Biedl Syndrome 9 32
1516 P GNR008 Generalized Resistance to Thyroid Hormone 32
1517 c HYP438 Hyperaldosteronism, Familial, Type Iii 31
1518 ADR023 Adrenomyodystrophy 31
1519 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1520 c AXN012 Axenfeld-Rieger Syndrome, Type 2 30
1521 c PSD093 Pseudohypoaldosteronism, Type Iid 30
1522 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 30
1523 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
1524 THY069 Thyroid Hormone Resistance, Selective Pituitary 30
1525 IDP085 Idiopathic Infantile Hypercalcemia 30
1526 PNC002 Pancreatic Mucinous Cystadenoma 30
1527 ECC003 Eccrine Papillary Adenoma 29
1528 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 29
1529 STY001 Satoyoshi Syndrome 29
1530 LVR014 Liver Sarcoma 29
1531 CLL009 Colloid Carcinoma of the Pancreas 28
1532 c NPH096 Nephrotic Syndrome, Type 12 28
1533 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28
1534 EPT007 Epithelial Malignant Thymoma 27
1535 c NPH076 Nephrotic Syndrome, Type 10 27
1536 c BRD050 Bardet-Biedl Syndrome 21 27
1537 c MCR212 Microphthalmia, Syndromic 12 26
1538 c PHL010 Peho-Like Syndrome 26
1539 INT041 Intratubular Embryonal Carcinoma 26
1540 c NPH102 Nephrotic Syndrome, Type 14 26
1541 ISL125 Isolated Growth Hormone Deficiency Type Iii 26
1542 FTL062 Fetal Iodine Deficiency Disorder 26
1543 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 26
1544 TMR001 Tumor of Exocrine Pancreas 26
1545 SML004 Small Intestine Neuroendocrine Neoplasm 26
1546 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 25
1547 c PSD068 Pseudohypoaldosteronism, Type Iic 25
1548 CRT065 Cortisone Reductase Deficiency 1 25
1549 FML211 Familial Papillary or Follicular Thyroid Carcinoma 25
1550 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25
1551 c NPH074 Nephrotic Syndrome, Type 9 25
1552 URC004 Urachal Cancer 25
1553 c TRN053 Transient Pseudohypoaldosteronism 25
1554 c NPH073 Nephrotic Syndrome, Type 8 24
1555 SCL007 Sclerosing Hepatic Carcinoma 24
1556 c SHW007 Shwachman-Diamond Syndrome 2 24
1557 CRT066 Cortisone Reductase Deficiency 2 24
1558 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
1559 NNG002 Non-Gestational Ovarian Choriocarcinoma 24
1560 c MCR262 Microphthalmia, Syndromic 4 24
1561 P TTR028 Tetraamelia Syndrome 1 24
1562 c NPH103 Nephrotic Syndrome, Type 15 24
1563 c NPH095 Nephrotic Syndrome, Type 11 24
1564 c NPH105 Nephrotic Syndrome, Type 17 24
1565 THY027 Thymus Squamous Cell Carcinoma 24
1566 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1567 c PSD094 Pseudohypoaldosteronism, Type Iib 23
1568 c BRD051 Bardet-Biedl Syndrome 20 23
1569 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 23
1570 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 23
1571 LVR005 Liver Leiomyoma 23
1572 PNC017 Pancreatic Serous Cystic Neoplasm 23
1573 c MCR228 Microphthalmia, Syndromic 13 23
1574 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
1575 c HYP564 Hypocalcemia, Autosomal Dominant 2 22
1576 DPL009 Duplication of the Pituitary Gland 22
1577 c NPH106 Nephrotic Syndrome, Type 18 21
1578 PLY115 Polyendocrine-Polyneuropathy Syndrome 21
1579 c MCR217 Microphthalmia, Syndromic 11 21
1580 P VTM003 Vitamin Metabolic Disorder 21
1581 PNC127 Pancreatic Adenosquamous Carcinoma 21
1582 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 20
1583 c NPH104 Nephrotic Syndrome, Type 16 20
1584 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 20
1585 c NPH107 Nephrotic Syndrome, Type 19 20
1586 c TTR029 Tetraamelia Syndrome 2 20
1587 GRW032 Growth Factors, Combined Defect of 20
1588 MRB006 Morbid Obesity and Spermatogenic Failure 19
1589 c NPH093 Nephrotic Syndrome, Type 13 19
1590 OVR103 Ovarian Endometrial Cancer 17
1591 NRN044 Neuroendocrine Carcinoma of Pancreas 17
1592 DST037 Distal Monosomy 9p 17
1593 SLN005 Silent Pituitary Adenoma 17
1594 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 17
1595 c CRN298 Carney Complex, Type 2 17
1596 OVR004 Ovary Neuroendocrine Neoplasm 15
1597 PNC009 Pancreas Sarcoma 15
1598 NRN033 Neuroendocrine Tumor of the Colon 15
1599 c TST017 Testicular Malignant Germ Cell Cancer 15
1600 c MYC055 Mycobacterium Tuberculosis 3 15
1601 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 15
1602 c PRD028 Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 15
1603 c NPH108 Nephrotic Syndrome, Type 20 15
1604 HYP053 Hypercalcemic Type Ovarian Small Cell Carcinoma 14
1605 c MYC054 Mycobacterium Tuberculosis 2 14
1606 OVR040 Ovarian Clear Cell Cystadenocarcinoma 14
1607 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1608 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 14
1609 6Q1002 6q16 Microdeletion Syndrome 13
1610 c DSR027 Disorders of Vitamin D Metabolism 13
1611 LVR008 Liver Fibrosarcoma 13
1612 PNC007 Pancreas Lymphoma 12
1613 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 12
1614 c CNG590 Congenital and Infantile Nephrotic Syndrome 12
1615 OVR020 Ovarian Wilms' Cancer 11
1616 PST034 Posterior Pituitary Gland Neoplasm 11
1617 OVR016 Ovarian Endometrioid Stromal Sarcoma 11
1618 PRS017 Prostate Neuroendocrine Neoplasm 11
1619 CHL043 Childhood Embryonal Testis Carcinoma 9
1620 THY012 Thymus Adenosquamous Carcinoma 9
1621 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 9
1622 NRN032 Neuroendocrine Tumor of Anal Canal 9
1623 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1624 MCR005 Macrotrabecular Hepatoblastoma 8
1625 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 8
1626 HPT017 Hepatic Osteogenic Sarcoma 7
1627 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
1628 CHL038 Childhood Choriocarcinoma of the Ovary 7
1629 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 7
1630 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
1631 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1632 NRN043 Neuroendocrine Neoplasm of Esophagus 6
1633 PNC040 Pancreatic Delta Cell Neoplasm 6
1634 OVR028 Ovarian Squamous Cell Neoplasm 6
1635 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
1636 PNC037 Pancreatic Colloid Cystadenocarcinoma 6
1637 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1638 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
1639 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1640 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
1641 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 4
1642 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 4
1643 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1644 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1645 GST109 Gastroenteric Neuroendocrine Neoplasm 3
1646 P BDY004 Body Mass Index Quantitative Trait Locus 11 78
1647 c BTT014 Beta-Thalassemia 73
1648 c MLT160 Multiple Endocrine Neoplasia, Type Iia 69
1649 ABT001 Abetalipoproteinemia 68
1650 AND002 Androgen Insensitivity Syndrome 66
1651 P THY023 Thymoma 64
1652 c ALP101 Alpha-Thalassemia 63
1653 GLC006 Galactosemia 63
1654 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62
1655 P THL005 Thalassemia 62
1656 THY121 Thyroid Gland Anaplastic Carcinoma 62
1657 DBT083 Diabetes Mellitus, Permanent Neonatal 61
1658 WST001 West Syndrome 61
1659 DBT084 Diabetes Mellitus, Ketosis-Prone 60
1660 STF001 Stiff-Person Syndrome 60
1661 c PRM005 Primary Hyperparathyroidism 60
1662 NRN004 Neuroendocrine Tumor 59
1663 DNH001 Donohue Syndrome 59
1664 ADR005 Adrenal Carcinoma 58
1665 ISL014 Isolated Growth Hormone Deficiency, Type Ia 58
1666 HPT022 Hepatoblastoma 58
1667 c ADL096 Adult Hepatocellular Carcinoma 56
1668 c THY107 Thymoma, Familial 55
1669 BRK001 Brooke-Spiegler Syndrome 55
1670 c RBN021 Rubinstein-Taybi Syndrome 1 55
1671 THY025 Thymus Cancer 55
1672 c SML009 Small Intestine Adenocarcinoma 55
1673 OVR059 Ovary Adenocarcinoma 54
1674 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 54
1675 P PTT006 Pituitary Adenoma 53
1676 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 52
1677 PRG017 Paraganglioma and Gastric Stromal Sarcoma 52
1678 c BDY020 Body Mass Index Quantitative Trait Locus 19 51
1679 ADR016 Adrenal Cortical Carcinoma 51
1680 c BDY021 Body Mass Index Quantitative Trait Locus 20 50
1681 c HYP768 Hyperlipoproteinemia, Type I 50
1682 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 49
1683 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49
1684 c BDY005 Body Mass Index Quantitative Trait Locus 9 49
1685 OPS006 Opsoclonus-Myoclonus Syndrome 48
1686 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 48
1687 c BDY015 Body Mass Index Quantitative Trait Locus 12 48
1688 c BDY010 Body Mass Index Quantitative Trait Locus 4 48
1689 c BDY019 Body Mass Index Quantitative Trait Locus 18 48
1690 PNC119 Pancreatic Neuroendocrine Tumor 48
1691 VPM001 Vipoma 47
1692 c BDY011 Body Mass Index Quantitative Trait Locus 10 47
1693 c BDY017 Body Mass Index Quantitative Trait Locus 14 46
1694 CMP034 Complete Androgen Insensitivity Syndrome 46
1695 c BDY006 Body Mass Index Quantitative Trait Locus 8 45
1696 c BDY012 Body Mass Index Quantitative Trait Locus 7 45
1697 c 46X001 46 Xy Gonadal Dysgenesis 45
1698 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44
1699 c BDY007 Body Mass Index Quantitative Trait Locus 1 43
1700 DBT090 Diabetes and Deafness, Maternally Inherited 43
1701 P CNT037 Central Nervous System Germinoma 43
1702 OVR112 Ovarian Germ Cell Cancer 43
1703 c OVR058 Ovarian Small Cell Carcinoma 40
1704 P TST026 Testicular Germ Cell Cancer 40
1705 EST007 Estrogen Resistance 40
1706 PRG008 Paragonimiasis 39
1707 OPS001 Opisthorchiasis 39
1708 ECT093 Ectopic Cushing Syndrome 39
1709 APL017 Apolipoprotein C-Ii Deficiency 39
1710 HYP610 Hypothyroidism, Central, and Testicular Enlargement 39
1711 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
1712 P PRR025 Perrault Syndrome 37
1713 PLS002 Peliosis Hepatis 37
1714 EMB006 Embryonal Testis Carcinoma 35
1715 P HPT020 Hepatic Vascular Disease 35
1716 PNC104 Pancreatic and Cerebellar Agenesis 34
1717 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 34
1718 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1719 P LRG016 Large Intestine Adenocarcinoma 33
1720 c KNN009 Kenny-Caffey Syndrome, Type 1 33
1721 IMM179 Immunodeficiency 31c 33
1722 TST033 Testicular Regression Syndrome 33
1723 PRP098 Proprotein Convertase 1/3 Deficiency 32
1724 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 31
1725 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1726 KPP002 Keppen-Lubinsky Syndrome 30
1727 c KNN007 Kenny-Caffey Syndrome, Type 2 30
1728 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
1729 THY064 Thyroid Hormone Metabolism, Abnormal 29
1730 ADR014 Adrenal Medulla Cancer 29
1731 c PRR020 Perrault Syndrome 1 28
1732 MMS001 Momo Syndrome 27
1733 c PRR026 Perrault Syndrome 5 27
1734 c PRR022 Perrault Syndrome 2 25
1735 c PRR024 Perrault Syndrome 3 25
1736 c PRR021 Perrault Syndrome 4 25
1737 c PRR033 Perrault Syndrome 6 19
1738 THY006 Thymus Lymphoma 19
1739 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 18
1740 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 15
1741 c THY085 Thymoma Type a 15
1742 c THY087 Thymoma Type Ab 15
1743 FNC065 Functioning Neuroendocrine Tumor of Pancreas 14
1744 c THY086 Thymoma Type B 13
1745 P THY005 Thymus Large Cell Carcinoma 13
1746 c BDY009 Body Mass Index Quantitative Trait Locus 3 11
1747 c BDY016 Body Mass Index Quantitative Trait Locus 13 11
1748 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 10
1749 c BDY008 Body Mass Index Quantitative Trait Locus 2 10
1750 c BDY013 Body Mass Index Quantitative Trait Locus 5 9
1751 c BDY018 Body Mass Index Quantitative Trait Locus 15 9
1752 c BDY014 Body Mass Index Quantitative Trait Locus 6 9
1753 LVR003 Liver Carcinoma in Situ 9
1754 c ALP107 Alpha-Thalassemia and Related Diseases 7
1755 CHL048 Childhood Teratocarcinoma of the Testis 7
1756 c RRV010 Rare Vascular Liver Disease 7
1757 P RBN007 Rubinstein Taybi Like Syndrome 6
1758 c ADL036 Adult Central Nervous System Germinoma 6
1759 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 6
1760 c BTT015 Beta-Thalassemia and Related Diseases 5
1761 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1762 P SRC025 Sarcoidosis 1 72
1763 c MLT156 Multiple Endocrine Neoplasia, Type I 71
1764 P ALG028 Alagille Syndrome 1 70
1765 P FRG001 Fragile X Syndrome 69
1766 SMT004 Smith-Lemli-Opitz Syndrome 67
1767 c GST103 Gastric Cancer, Hereditary Diffuse 65
1768 KRN002 Kearns-Sayre Syndrome 64
1769 MRK001 Merkel Cell Carcinoma 62
1770 CHR103 Charge Syndrome 62
1771 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1772 P PRD006 Prader-Willi Syndrome 60
1773 INS001 Insulinoma 60
1774 PSD021 Pseudovaginal Perineoscrotal Hypospadias 58
1775 c MYT020 Myotonic Dystrophy 2 54
1776 BRJ001 Borjeson-Forssman-Lehmann Syndrome 53
1777 P MRN003 Marinesco-Sjogren Syndrome 53
1778 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 52
1779 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
1780 FML063 Familial Glucocorticoid Deficiency 51
1781 P 46X052 46,xx Sex Reversal 1 50
1782 ALV002 Alveolar Echinococcosis 50
1783 TST014 Testicular Cancer 49
1784 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 49
1785 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 49
1786 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 48
1787 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 46
1788 P LSS036 Lissencephaly, X-Linked, 1 45
1789 SML031 Small Cell Carcinoma of the Bladder 45
1790 TBR006 Tuberculoid Leprosy 45
1791 PRS127 Pearson Marrow-Pancreas Syndrome 44
1792 c SRC023 Sarcoidosis 2 43
1793 ISL015 Isolated Growth Hormone Deficiency, Type Ib 43
1794 CHP002 Chops Syndrome 41
1795 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 40
1796 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
1797 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 39
1798 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 36
1799 c LSS037 Lissencephaly, X-Linked, 2 35
1800 c ALG016 Alagille Syndrome 2 35
1801 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 30
1802 MLL011 Mullerian Aplasia and Hyperandrogenism 30
1803 PRM205 Primary Hepatic Neuroendocrine Carcinoma 29
1804 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 25
1805 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1806 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 22
1807 LRY013 Laryngeal Neuroendocrine Tumor 21
1808 PNC014 Pancreatic Serous Cystadenocarcinoma 21
1809 c SRC024 Sarcoidosis 3 21
1810 ACR079 Acrodysostosis with Multiple Hormone Resistance 20
1811 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 20
1812 NRN047 Neuroendocrine Neoplasm of Pancreas 19
1813 MSC089 Mosaic Monosomy X 18
1814 LYM123 Lymphedema-Hypoparathyroidism Syndrome 18
1815 MNT030 Mental Retardation Syndrome, Belgian Type 15
1816 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1817 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 15
1818 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 11
1819 c MRN006 Marinesco-Sjogren-Like Syndrome 8
1820 c FRG004 Fragile X Syndrome Type 1 3
1821 c FRG005 Fragile X Syndrome Type 2 3
1822 c FRG006 Fragile X Syndrome Type 3 3
1823 P PNC035 Pancreatic Cancer 86
1824 P ATX030 Ataxia-Telangiectasia 83
1825 THY111 Thyroid Carcinoma, Familial Medullary 68
1826 P LPR021 Leprosy 3 67
1827 PRT010 Parathyroid Carcinoma 67
1828 P CMP005 Campomelic Dysplasia 64
1829 HYP020 Hyperprolactinemia 62
1830 PLL001 Pallister-Hall Syndrome 62
1831 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61
1832 FBR086 Fibrolamellar Carcinoma 60
1833 HYP780 Hypoadrenocorticism, Familial 60
1834 PND002 Pendred Syndrome 60
1835 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 59
1836 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 57
1837 DNY001 Denys-Drash Syndrome 57
1838 APP015 Apparent Mineralocorticoid Excess 56
1839 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 55
1840 c CNG012 Congenital Generalized Lipodystrophy 53
1841 P PNB001 Pineoblastoma 52
1842 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1843 FRS002 Frasier Syndrome 49
1844 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 49
1845 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 48
1846 CYS008 Cystic Echinococcosis 47
1847 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 47
1848 P ACQ022 Acquired Generalized Lipodystrophy 46
1849 FML075 Familial Isolated Hyperparathyroidism 44
1850 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 43
1851 TXC011 Toxocariasis 43
1852 P HRD086 Hereditary Hypophosphatemic Rickets 41
1853 ARM004 Aromatase Excess Syndrome 40
1854 FML091 Familial Tumoral Calcinosis 40
1855 c LPR022 Leprosy 2 37
1856 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 37
1857 HYP249 Hyperthyroidism, Nonautoimmune 33
1858 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 33
1859 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 28
1860 GRW003 Growth Hormone Insensitivity with Immunodeficiency 28
1861 PTT047 Pituitary Hormone Deficiency, Combined, 3 27
1862 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
1863 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1864 DTH005 Diethylstilbestrol Syndrome 23
1865 c LPR023 Leprosy 1 23
1866 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22
1867 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1868 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 20
1869 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 20
1870 c LPR017 Leprosy 5 20
1871 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 18
1872 c LPR016 Leprosy 4 17
1873 c LPR020 Leprosy 6 17
1874 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 16
1875 c CMP100 Campomelic Dysplasia and Related Disorders 13
1876 P LFR001 Li-Fraumeni Syndrome 71
1877 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 65
1878 CRN036 Craniopharyngioma 65
1879 c PSD108 Pseudohypoparathyroidism, Type Ia 61
1880 SPT006 Septooptic Dysplasia 60
1881 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
1882 P SHR029 Short Syndrome 56
1883 P PSD015 Pseudohypoparathyroidism 54
1884 P FML012 Familial Partial Lipodystrophy 54
1885 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 54
1886 P CLS054 Classic Ehlers-Danlos Syndrome 52
1887 c PSD066 Pseudohypoparathyroidism, Type Ib 51
1888 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 50
1889 c SHR030 Short Qt Syndrome 47
1890 WDM005 Wiedemann-Rautenstrauch Syndrome 46
1891 MRT007 Martsolf Syndrome 45
1892 c FML294 Familial Short Qt Syndrome 41
1893 c LFR007 Li-Fraumeni Syndrome 2 41
1894 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1895 GRD009 Gordon Holmes Syndrome 39
1896 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 39
1897 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1898 BCH003 Boucher-Neuhauser Syndrome 37
1899 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 37
1900 c SHR032 Short Qt Syndrome 2 29
1901 c SHR033 Short Qt Syndrome 3 28
1902 c SHR031 Short Qt Syndrome 1 28
1903 CHR506 Choroideremia, Deafness, and Mental Retardation 26
1904 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 25
1905 c LPD044 Lipodystrophy, Familial Partial, Type 7 24
1906 P HPT023 Hepatocellular Carcinoma 99
1907 SCK003 Sickle Cell Anemia 74
1908 BDD001 Budd-Chiari Syndrome 62
1909 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62
1910 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1911 ARM001 Aromatase Deficiency 55
1912 P FML068 Familial Hypocalciuric Hypercalcemia 50
1913 c RBN008 Rubinstein-Taybi Syndrome 2 32
1914 P NNN008 Noonan Syndrome 1 76
1915 MCC012 Mccune-Albright Syndrome 70
1916 DGR001 Digeorge Syndrome 61
1917 c TYR012 Tyrosinemia, Type I 61
1918 CHN016 Cohen Syndrome 57
1919 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 56
1920 PSD014 Pseudopseudohypoparathyroidism 56
1921 P TYR004 Tyrosinemia 54
1922 c NNN010 Noonan Syndrome 3 46
1923 c TYR013 Tyrosinemia, Type Ii 45
1924 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 44
1925 c NNN013 Noonan Syndrome 6 41
1926 c TYR011 Tyrosinemia, Type Iii 41
1927 c NNN011 Noonan Syndrome 4 41
1928 c NNN024 Noonan Syndrome 9 38
1929 c NNN021 Noonan Syndrome 8 37
1930 c NNN012 Noonan Syndrome 5 36
1931 c NNN025 Noonan Syndrome 10 35
1932 c NNN020 Noonan Syndrome 7 34
1933 c NNN009 Noonan Syndrome 2 34
1934 c NNN029 Noonan Syndrome 11 18
1935 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 32



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