Endocrine Diseases Category (1952 diseases)


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

# Family MCID Name MIFTS
1 PNC120 Pancreas, Dorsal, Agenesis of 32
2 P SLV026 Salivary Gland Carcinoma 60
3 PNC048 Pancreatic Lipase Deficiency 29
4 SLV025 Salivary Gland Adenoma, Pleomorphic 38
5 LCR011 Lacrimal Gland Carcinoma 24
6 SWT002 Sweat Gland Cancer 40
7 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 32
8 OST141 Osteoclastic Giant Cell Tumor of Pancreas 16
9 PRR005 Paraurethral Gland Cancer 10
10 TRP008 Tropical Calcific Pancreatitis 47
11 SLV003 Salivary Gland Disease 41
12 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 38
13 ISL123 Isolated Growth Hormone Deficiency, Type Iv 24
14 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 40
15 SWT004 Sweat Gland Neoplasm 33
16 GLC042 Glucocorticoid Deficiency 1 45
17 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
18 APL002 Aplasia of Lacrimal and Salivary Glands 50
19 MXD003 Mixed Lacrimal Gland Cancer 33
20 BRT045 Bartholin's Gland Benign Neoplasm 28
21 SBM004 Submandibular Gland Cancer 28
22 SBC017 Sebaceous Gland Disease 41
23 CMB021 Combined Pituitary Hormone Deficiency 40
24 HDR004 Hidradenoma 36
25 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 26
26 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 25
27 ISL124 Isolated Growth Hormone Deficiency, Type V 22
28 PTT043 Pituitary Hormone Deficiency, Combined, 6 17
29 SLL001 Sialolithiasis 35
30 XLN182 X-Linked Cerebral Adrenoleukodystrophy 13
31 LCR007 Lacrimal Gland Squamous Cell Carcinoma 11
32 SBL001 Sublingual Gland Cancer 9
33 HYP189 Hypoadrenalism 37
34 ATM078 Autoimmune Addison Disease 30
35 MCC003 Mucocele of Salivary Gland 29
36 CNG298 Congenital Pancreatic Cyst 19
37 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 18
38 OBS653 Obsolete: Fibrocalculous Pancreatopathy 14
39 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 9
40 BRN010 Bronchial Mucus Gland Adenoma 6
41 PRR003 Paraurethral Gland Neoplasm 5
42 ULN003 Ulnar-Mammary Syndrome 57
43 PLM014 Pleomorphic Adenoma 52
44 SLD003 Sialadenitis 50
45 ADR022 Adrenomyeloneuropathy 38
46 SWT003 Sweat Gland Disease 33
47 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 31
48 HLP031 Holoprosencephaly 12 with or Without Pancreatic Agenesis 20
49 ACC005 Accessory Pancreas 19
50 GLN006 Glandular Cystitis 28
51 BRT012 Bartholin's Gland Adenoma 25
52 BRT014 Bartholin's Duct Cyst 24
53 PRT100 Parotid Gland Adenoid Cystic Carcinoma 24
54 MRT009 Martinez-Frias Syndrome 22
55 VGN021 Vaginal Glandular Tumor 17
56 BRT060 Bartholin's Gland Disease 16
57 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 9
58 YRF001 Yorifuji Okuno Syndrome 8
59 BRT010 Bartholin's Gland Transitional Cell Carcinoma 7
60 MNR001 Minor Vestibular Glands Adenoma 7
61 BRT009 Bartholin's Gland Adenomyoma 6
62 VLV037 Vulvar Glandular Tumor 5
63 HLX001 Helix Syndrome 47
64 PNC056 Pineocytoma 45
65 GRW007 Growth Hormone Deficiency 43
66 ALD013 Aldosterone-Producing Adenoma 38
67 APC009 Apocrine Gland Secretion, Variation in 26
68 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
69 HYP705 Hyperadrenalism 20
70 ADN072 Adenoma of Pancreas 20
71 SBM003 Submandibular Gland Disease 20
72 PRP074 Peripheral Resistance to Thyroid Hormones 20
73 RRT002 Rare Tumor of Pancreas 17
74 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 17
75 SQM014 Squamous Cell Carcinoma of Pancreas 14
76 THY053 Thyroid Hormone Plasma Membrane Transport Defect 11
77 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 10
78 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
79 FLL045 Follicular Cholangitis and Pancreatitis 8
80 CRC037 Carcinoma of Esophagus, Salivary Gland Type 7
81 ANL002 Anal Gland Neoplasm 7
82 CHR002 Chronic Lacrimal Gland Enlargement 6
83 RRP011 Rare Epithelial Tumor of Pancreas 6
84 PRL002 Prolapse of Lacrimal Gland 5
85 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
86 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 2
87 P MMP001 Mumps 57
88 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 39
89 MBM001 Meibomian Cyst 34
90 GLN002 Glanders 33
91 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
92 c CNG110 Congenital Mumps 7
93 P NTR004 Neutropenia 63
94 c SVR003 Severe Congenital Neutropenia 59
95 ADN018 Adenoma 58
96 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 50
97 MKL001 Mikulicz Disease 45
98 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 36
99 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 35
100 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 34
101 CYT014 Cytochrome P450 Oxidoreductase Deficiency 33
102 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 27
103 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 25
104 CHL075 Cheilitis Glandularis 25
105 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
106 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 24
107 PPL017 Papillary Hidradenoma 22
108 c NTR045 Neutropenia, Chronic Familial 22
109 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 21
110 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
111 GLN001 Glandular Tularemia 17
112 PNC049 Pancreatic Adenoma 17
113 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 14
114 c ACQ053 Acquired Neutropenia 14
115 c ELN001 Elane-Related Neutropenia 14
116 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 12
117 PNC055 Pancreatitis, Pediatric 11
118 c SLV006 Salivary Gland Cancer, Adult 9
119 CWP002 Cowper Gland Carcinoma 9
120 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
121 P MLN007 Male Infertility 56
122 MST005 Mastitis 53
123 P THY054 Thyrotoxic Periodic Paralysis 47
124 PPL001 Papillary Adenoma 45
125 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 44
126 SBC009 Sebaceous Adenoma 35
127 LMB008 Limb-Mammary Syndrome 35
128 c THY084 Thyrotoxic Periodic Paralysis 1 35
129 GGN002 Gigantism 34
130 c THY083 Thyrotoxic Periodic Paralysis 2 33
131 ATM061 Autoimmune Polyglandular Syndrome Type 3 29
132 FXF002 Fox-Fordyce Disease 27
133 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 27
134 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 26
135 MCT002 Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency 21
136 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 18
137 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 18
138 c MLN078 Male Infertility Due to Acephalic Spermatozoa 18
139 TRY003 Trypsinogen Deficiency 17
140 GLC107 Glucocorticoid Deficiency 5 17
141 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 15
142 c FML266 Female Infertility Due to Zona Pellucida Defect 14
143 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 14
144 IGG012 Igg4-Related Submandibular Gland Disease 14
145 c MLN081 Male Infertility Due to Sperm Motility Disorder 13
146 URT019 Urethral Gland Abscess 13
147 c RRM015 Rare Male Infertility 13
148 c THY119 Thyrotoxic Periodic Paralysis 3 12
149 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
150 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
151 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 10
152 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 10
153 ECT097 Ectodermal Dysplasia with Adrenal Cyst 10
154 FNC012 Functioning Pancreatic Endocrine Tumor 9
155 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
156 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
157 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
158 P RRF012 Rare Female Infertility 7
159 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
160 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
161 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 6
162 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
163 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
164 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 6
165 c MLN082 Male Infertility Due to Sperm Disorder 6
166 PNC125 Pancreatic Lymphoma, Familial 5
167 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
168 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
169 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
170 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
171 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
172 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
173 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
174 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
175 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
176 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
177 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
178 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
179 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
180 TMR021 Tumor of Endocrine Glands 4
181 PNC130 Pancreatic Agenesis-Holoprosencephaly Syndrome 4
182 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
183 OBS600 Obsolete: Diabetes Associated to Exocrine Pancreas Neoplasia 3
184 OBS614 Obsolete: Metastatic Pituitary Hormone Deficiency 3
185 GNT052 Genetic Pancreatic Disease 2
186 OBS103 Obsolete: Acth-Independent Cushing Syndrome Due to Bilateral Adrenocortical Hyperplasia 2
187 GNT093 Genetic Sebaceous Gland Anomaly 2
188 OBS508 Obsolete: Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 2
189 OBS513 Obsolete: Disorder in the Hormonal Synthesis with or Without Goiter 2
190 OBS607 Obsolete: Congenital Adrenal Hypoplasia of Maternal Cause 2
191 OBS687 Obsolete: Palpebral Sebaceous Gland Tumor 2
192 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89
193 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81
194 P MTR004 Maturity-Onset Diabetes of the Young 66
195 LYS012 Lysosomal Acid Lipase Deficiency 64
196 LVR012 Liver Cirrhosis 63
197 c HPT001 Hepatitis C 63
198 P CRN038 Carney Complex Variant 63
199 P VND007 Van Der Woude Syndrome 1 58
200 P ACT010 Acth-Secreting Pituitary Adenoma 57
201 ACD008 Acid-Labile Subunit Deficiency 54
202 P THY032 Thyroiditis 53
203 c HPT007 Hepatitis E 52
204 GTR002 Goiter 52
205 HYP080 Hypogonadism 50
206 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
207 HDR003 Hidradenitis 49
208 GYN001 Gynecomastia 49
209 c HPT015 Hepatitis D 49
210 HYP043 Hyperandrogenism 48
211 P BRS053 Breast Fibroadenoma 48
212 c SHR030 Short Qt Syndrome 48
213 ANV001 Anovulation 47
214 THY128 Thyroid Tumor 47
215 NDL007 Nodular Goiter 47
216 PSD009 Pseudohermaphroditism 46
217 ORC001 Orchitis 45
218 P OVR046 Ovarian Cyst 45
219 MYX004 Myxedema 44
220 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
221 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 44
222 STT007 Steatocystoma Multiplex 44
223 P PRT026 Parotitis 42
224 P MLT008 Multinodular Goiter 42
225 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 41
226 c MCR263 Microphthalmia, Syndromic 1 41
227 HYP064 Hypogonadotropism 40
228 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 40
229 c DBT034 Diabetes Mellitus, Insulin-Dependent, 20 40
230 PTT003 Pituitary-Dependent Cushing's Disease 39
231 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 38
232 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 38
233 GND003 Gonadal Disease 38
234 LBR025 Lobar Holoprosencephaly 38
235 c PLY105 Polycystic Ovary Syndrome 1 38
236 HYP070 Hyperpituitarism 38
237 ETH004 Euthyroid Sick Syndrome 37
238 P SRT003 Sertoli-Leydig Cell Tumor 37
239 HRT040 Hirata Disease 37
240 ALB014 Alobar Holoprosencephaly 36
241 ADN075 Adenomyoma 36
242 DYS017 Dysgerminoma of Ovary 35
243 ADN064 Adenohypophysitis 35
244 TMP012 Temple Syndrome 34
245 MLR009 Miliaria 34
246 PLM011 Plummer's Disease 34
247 ACD001 Acidophil Adenoma 34
248 P MXD016 Mixed Gonadal Dysgenesis 34
249 NNT010 Nontoxic Goiter 32
250 c ATM068 Autoimmune Hypoparathyroidism 32
251 PTT010 Pituitary Infarct 32
252 c LCL022 Localized Lipodystrophy 32
253 c PRC047 Precocious Puberty, Central, 1 32
254 OVR048 Ovarian Cystadenoma 32
255 c PRM316 Primary Congenital Hypothyroidism 32
256 NNT003 Neonatal Thyrotoxicosis 31
257 THY001 Thyroid Crisis 31
258 c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 30
259 CTC004 Catecholamine-Producing Tumor 30
260 PST014 Postsurgical Hypothyroidism 30
261 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
262 c MLG059 Malignant Struma Ovarii 29
263 LCT003 Lactocele 29
264 HYP029 Hyperthyroxinemia 29
265 c SHR031 Short Qt Syndrome 1 29
266 c ACT053 Acute Thyroiditis 28
267 OVR057 Ovarian Serous Adenofibroma 28
268 c PRG094 Paragangliomas 5 28
269 IDP034 Idiopathic Central Precocious Puberty 28
270 48X001 48, Xxxx 28
271 IND004 Indeterminate Leprosy 28
272 THY007 Thymus Lipoma 27
273 c MCR212 Microphthalmia, Syndromic 12 27
274 PRM315 Permanent Congenital Hypothyroidism 27
275 CRP004 Corpus Luteum Cyst 27
276 ECT003 Ectopic Thymus 27
277 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
278 PNL003 Pineal Region Meningioma 26
279 IDN001 Iodine Hypothyroidism 26
280 OVR001 Ovarian Stromal Hyperthecosis 26
281 GGN004 Gigantomastia 26
282 DND003 Dendritic Cell Thymoma 26
283 MXD024 Mixed Epithelial Tumor of Ovary 26
284 THY004 Thyroid Angiosarcoma 25
285 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
286 SBS002 Substernal Goiter 25
287 c HYP720 Hyperparathyroidism 4 25
288 ENC002 Eunuchism 25
289 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 24
290 P SLP004 Salpingo-Oophoritis 24
291 TXC004 Toxic Diffuse Goiter 24
292 c PRM091 Premature Ovarian Failure 2b 24
293 c VND004 Van Der Woude Syndrome 2 24
294 SPP005 Suppurative Thyroiditis 23
295 LNG018 Lingual Goiter 23
296 c PRR026 Perrault Syndrome 5 23
297 c SYN140 Syndrome with 46,xy Disorder of Sex Development 23
298 c TYP036 Type 1 Diabetes Mellitus 12 23
299 c TRN047 Transient Congenital Hypothyroidism 23
300 c PRM094 Premature Ovarian Failure 5 23
301 c PRC046 Precocious Puberty, Central, 2 23
302 THY003 Thymic Dysplasia 22
303 c INS009 Insulin-Resistance Type B 22
304 OVR056 Ovarian Primitive Germ Cell Tumor 22
305 PLY115 Polyendocrine-Polyneuropathy Syndrome 22
306 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22
307 c 46X056 46,xy Sex Reversal 5 22
308 c TYP035 Type 1 Diabetes Mellitus 11 22
309 THY020 Thyroid Hyalinizing Trabecular Adenoma 21
310 c DBT082 Diabetes Mellitus, Insulin-Dependent, 12 21
311 NNF008 Non-Functioning Paraganglioma 21
312 c OVR102 Ovarian Dysgenesis 3 21
313 DYS008 Dyshormonogenic Goiter 21
314 THY021 Thyroid Malformation 21
315 c MLT120 Multiple Fibroadenomas of the Breast 21
316 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 21
317 c TYP030 Type 1 Diabetes Mellitus 4 21
318 c ADL025 Adult Pineoblastoma 21
319 ATR009 Atrophy of Testis 20
320 PNH004 Panhypophysitis 20
321 c PRM191 Premature Ovarian Failure 9 20
322 PNL011 Pineal Region Germinoma 20
323 c TYP032 Type 1 Diabetes Mellitus 6 20
324 c LPR017 Leprosy 5 20
325 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 20
326 FRM001 Freemartinism 20
327 HYP645 Hyperthyroxinemia, Dystransthyretinemic 19
328 c HYP857 Hypothyroidism, Congenital, Nongoitrous, 8 19
329 c MLG021 Malignant Sertoli-Leydig Cell Tumor 19
330 LPS003 Liposarcoma of the Ovary 19
331 c PRM292 Premature Ovarian Failure 14 19
332 RDL003 Riedel's Fibrosing Thyroiditis 19
333 ABN002 Abnormality of Glucagon Secretion 19
334 c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 19
335 P PRM176 Premature Ovarian Failure 2a 18
336 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 18
337 c OVR118 Ovarian Dysgenesis 6 18
338 OVR037 Ovarian Solid Teratoma 17
339 LTN011 Late-Onset Isolated Acth Deficiency 17
340 c TYP037 Type 1 Diabetes Mellitus 13 17
341 MYP026 Myopathy - Thyrotoxic 17
342 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 16
343 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 16
344 c GRV009 Graves Disease 2 15
345 CLR006 Clear Cell Cystadenofibroma 15
346 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 15
347 INH007 Inherited Thyroxine-Binding Globulin Deficiency 14
348 c GTR013 Goiter, Multinodular 2 14
349 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
350 PDT046 Pediatric-Onset Graves Disease 14
351 ADL070 Adult-Onset Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia 13
352 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 13
353 c KLL007 Kallmann Syndrome 5 13
354 c BLR017 Biliary Cirrhosis, Primary, 3 13
355 c DBT051 Diabetes Mellitus, Insulin-Dependent, 17 13
356 c GTR014 Goiter, Multinodular 3 12
357 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
358 P OVR052 Ovarian Endometrioid Adenofibroma 11
359 PTT069 Pituitary Deficiency Due to Rathke Cleft Cysts 11
360 PNN006 Panniculitis-Induced Localized Lipodystrophy 10
361 IDP061 Idiopathic Congenital Hypothyroidism 10
362 c ATM058 Autoimmune Thyroid Disease 4 10
363 HRD017 Hordeolum Externum 10
364 SYN101 Syndromic Hypothyroidism 10
365 P OVR053 Ovarian Mucinous Adenofibroma 9
366 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8
367 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
368 c KLL006 Kallmann Syndrome 4 8
369 IDN004 Iodine Antenatal Exposure 8
370 c PRT125 Parotitis, Juvenile Recurrent 7
371 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
372 OVR032 Ovarian Surface Papilloma 7
373 PST024 Post-Surgical Hypoinsulinemia 6
374 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 6
375 c ATS423 Autosomal Dominant Wolfram Syndrome 5
376 MKT001 Mikati-Najjar-Sahli Syndrome 5
377 SPR069 Sporadic Secreting Paraganglioma 5
378 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
379 MXD004 Mixed Eosinophil-Basophil Adenoma 5
380 MDL001 Medulloadrenal Hyperfunction 4
381 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
382 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
383 DZX003 Diazoxide-Resistant Diffuse Hyperinsulinism 4
384 CNG594 Congenital Thyroid Malformation Without Hypothyroidism 4
385 THY002 Thyrocalcitonin Secretion Disease 3
386 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
387 P 46X065 46,xy Disorder of Gonadal Development 3
388 BRT016 Bartholin's Gland Carcinoma 24
389 PRT009 Parotid Gland Cancer 36
390 ANL012 Anal Gland Adenocarcinoma 24
391 BRT015 Bartholin's Gland Adenocarcinoma 19
392 P MCK013 Meckel Syndrome, Type 1 65
393 c MCK032 Meckel Syndrome, Type 3 49
394 c MCK033 Meckel Syndrome, Type 4 46
395 c MCK031 Meckel Syndrome, Type 2 46
396 c MCK012 Meckel Syndrome, Type 6 45
397 c MCK014 Meckel Syndrome, Type 5 44
398 c MCK030 Meckel Syndrome, Type 7 43
399 c MCK034 Meckel Syndrome, Type 8 41
400 c MCK035 Meckel Syndrome, Type 10 27
401 c MCK028 Meckel Syndrome 13 26
402 c MCK026 Meckel Syndrome 12 25
403 c MCK020 Meckel Syndrome, Type 11 23
404 c MCK036 Meckel Syndrome, Type 9 22
405 APC004 Apocrine Adenocarcinoma 37
406 MTC096 Mitchell-Riley Syndrome 31
407 SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 12
408 ACN026 Acinar Cell Carcinoma of Pancreas 28
409 SBC011 Sebaceous Adenocarcinoma 42
410 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 27
411 ADN011 Adenoid Cystic Carcinoma 70
412 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 32
413 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 23
414 LCR009 Lacrimal Gland Adenocarcinoma 20
415 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
416 BRT003 Bartholin's Gland Small Cell Carcinoma 7
417 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
418 GST051 Gastrointestinal Tuberculosis 38
419 SBC018 Sebaceous Gland Neoplasm 32
420 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 27
421 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 23
422 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 17
423 TNG006 Tunglang Savage Bellman Syndrome 13
424 HYP746 Hypersecretion of Adrenal Androgens, Familial 12
425 SLV014 Salivary Gland Type Cancer of the Breast 8
426 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
427 DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
428 ADR038 Adermatoglyphia 48
429 ECC002 Eccrine Acrospiroma 36
430 STR088 Stratton-Parker Syndrome 23
431 VST005 Vestibular Gland Benign Neoplasm 22
432 LTT003 Littre Gland Carcinoma 5
433 CYS014 Cystadenocarcinoma 51
434 MCP006 Mucoepidermoid Carcinoma 50
435 WTK002 Witkop Syndrome 45
436 MXD023 Mixed Cell Type Cancer 42
437 ANL011 Anal Canal Carcinoma 37
438 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 35
439 APC005 Apocrine Sweat Gland Neoplasm 29
440 ECC008 Eccrine Sweat Gland Neoplasm 28
441 ECC001 Eccrine Papillary Adenocarcinoma 25
442 ECC007 Eccrine Sweat Gland Cancer 25
443 ACN007 Acinar Cell Cystadenocarcinoma 22
444 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 20
445 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
446 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 10
447 RRP030 Rare Pancreatic Disease 8
448 RRT012 Rare Tumor of Salivary Glands 7
449 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
450 BLN023 Bile and Pancreatic Ducts, Complete Absence of 5
451 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
452 OBS540 Obsolete: Melanoma-Pancreatic Cancer Syndrome 4
453 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
454 c HMC039 Hemochromatosis, Type 1 74
455 P HYP724 Hyperlipoproteinemia, Type Iii 72
456 ACR007 Acromegaly 71
457 P HYP086 Hypothyroidism 68
458 P FRG001 Fragile X Syndrome 68
459 P MYC084 Mycobacterium Tuberculosis 1 68
460 P HLP001 Holoprosencephaly 68
461 c CNG411 Congenital Disorder of Glycosylation, Type in 68
462 c FML021 Familial Hypercholesterolemia 68
463 P DBT085 Diabetes Mellitus, Insulin-Dependent 67
464 HYP056 Hypoglycemia 66
465 c CNG006 Congenital Hypothyroidism 65
466 PRT036 Peritonitis 65
467 MNN042 Meningioma, Radiation-Induced 62
468 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 60
469 THY029 Thyroid Carcinoma 59
470 c ACT027 Acute Pancreatitis 59
471 THY022 Thymic Carcinoma 57
472 HPT046 Hepatic Veno-Occlusive Disease 56
473 HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 56
474 P PLY011 Polycystic Ovary Syndrome 56
475 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 55
476 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 55
477 c CNG012 Congenital Generalized Lipodystrophy 54
478 HYP060 Hyperinsulinism 54
479 c HYP740 Hyperlipoproteinemia, Type V 54
480 P HYP050 Hyperinsulinemic Hypoglycemia 54
481 PTT009 Pituitary Gland Disease 54
482 P STS003 Sitosterolemia 53
483 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
484 c HLP023 Holoprosencephaly 1 53
485 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 53
486 P OVR049 Ovarian Disease 53
487 c HYP768 Hyperlipoproteinemia, Type I 52
488 P HMG032 Hemoglobin H Disease 52
489 c HMC021 Hemochromatosis, Type 2a 52
490 c PTT057 Pituitary Adenoma 4, Acth-Secreting 51
491 c HYP739 Hyperlipoproteinemia, Type Iv 51
492 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 51
493 THY030 Thyroid Gland Disease 51
494 PTT041 Pituitary Stalk Interruption Syndrome 50
495 c HLP024 Holoprosencephaly 2 50
496 c HMC009 Hemochromatosis Type 2 50
497 PRT029 Parathyroid Adenoma 50
498 c HMC035 Hemochromatosis, Type 4 50
499 c MLT086 Multiple Endocrine Neoplasia, Type Iv 50
500 P NNT009 Neonatal Diabetes Mellitus 50
501 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 49
502 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 49
503 c HMC010 Hemochromatosis, Type 3 49
504 PRS129 Prostatic Hyperplasia, Benign 49
505 P GND004 Gonadal Dysgenesis 49
506 HPT009 Hepatopulmonary Syndrome 49
507 ONC007 Oncocytoma 48
508 c HLP028 Holoprosencephaly 5 48
509 c HLP026 Holoprosencephaly 3 47
510 NNT017 Neonatal Adrenoleukodystrophy 47
511 c CNT075 Central Precocious Puberty 47
512 c AXN009 Axenfeld-Rieger Syndrome, Type 1 47
513 PRS127 Pearson Marrow-Pancreas Syndrome 47
514 c STS010 Sitosterolemia 1 47
515 P PRC019 Precocious Puberty 47
516 ADR040 Adrenal Gland Pheochromocytoma 46
517 END031 Endometrial Stromal Sarcoma 46
518 c HLP025 Holoprosencephaly 9 46
519 c SBC007 Subacute Thyroiditis 46
520 P ATM019 Autoimmune Polyendocrine Syndrome 46
521 PRT030 Parathyroid Gland Disease 45
522 DYS101 Dysgerminoma 45
523 FSH001 Fish-Eye Disease 45
524 c FML297 Familial Thyroid Dyshormonogenesis 45
525 ADR012 Adrenal Gland Disease 45
526 THY009 Thyroid Lymphoma 45
527 c HLP029 Holoprosencephaly 4 45
528 c HLP016 Holoprosencephaly 11 44
529 c NNN011 Noonan Syndrome 4 44
530 P END084 Endocrine System Disease 44
531 CRN055 Carney Triad 44
532 PRS042 Prostate Disease 44
533 DWR001 Dwarfism 44
534 FNC007 Functioning Pituitary Adenoma 44
535 ADR041 Adrenal Cortical Adenoma 43
536 TSH001 Tsh Producing Pituitary Tumor 43
537 LPP002 Lipoprotein Glomerulopathy 43
538 P ACT244 Acth-Independent Cushing Syndrome 43
539 c 46X002 46 Xx Gonadal Dysgenesis 43
540 c 46X051 46,xy Sex Reversal 1 43
541 DRG002 Drug-Induced Hepatitis 42
542 HYP085 Hypothalamic Disease 42
543 PRM013 Premature Menopause 42
544 49X006 49, Xxxxy Syndrome 41
545 EXC002 Exocrine Pancreatic Insufficiency 41
546 P RRH023 Rare Hereditary Hemochromatosis 41
547 EST004 Estrogen Excess 40
548 OST004 Osteitis Fibrosa 40
549 END011 Endometriosis of Ovary 40
550 ISL114 Isolated Growth Hormone Deficiency, Type Ii 40
551 c HMG001 Hemoglobin C Disease 40
552 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 39
553 ACT245 Acth-Dependent Cushing Syndrome 39
554 c HMC034 Hemochromatosis, Type 5 39
555 FLL031 Follicular Adenoma 39
556 ALC005 Alcoholic Pancreatitis 39
557 c HLP027 Holoprosencephaly 7 39
558 P STR021 Struma Ovarii 39
559 P SRT002 Sertoli Cell Tumor 39
560 46X012 46,xy Partial Gonadal Dysgenesis 37
561 ADR009 Adrenal Cortex Disease 37
562 P HYP120 Hypoaldosteronism 37
563 c BRD035 Bardet-Biedl Syndrome 15 37
564 P PNC045 Pancreatic Agenesis 37
565 ANR018 Anorchia 36
566 HRM002 Hermaphroditism 36
567 c SCN052 Secondary Adrenal Insufficiency 36
568 P OVR075 Ovarian Dysgenesis 1 36
569 c HMC019 Hemochromatosis, Type 2b 36
570 P FML168 Familial Isolated Pituitary Adenoma 36
571 LTM002 Luteoma 35
572 END038 Endocrine Pancreas Disease 35
573 ATH010 Athyreosis 35
574 c MCR312 Microphthalmia, Syndromic 10 34
575 PTT001 Pituitary Hypoplasia 34
576 GNT167 Genetic Obesity 34
577 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 34
578 c LPD036 Lipodystrophy, Familial Partial, Type 6 34
579 UVP001 Uveoparotid Fever 34
580 P 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 34
581 MCH011 Meacham Syndrome 34
582 c BNG029 Benign Struma Ovarii 34
583 c CNT101 Central Congenital Hypothyroidism 34
584 c LVR030 Liver Failure, Infantile, Transient 33
585 ADR010 Adrenal Cortical Hypofunction 33
586 c DBT079 Diabetes Mellitus, Insulin-Dependent, 21 33
587 PRP098 Proprotein Convertase 1/3 Deficiency 33
588 c DBT053 Diabetes Mellitus, Insulin-Dependent, 23 33
589 HPT081 Hepatic Infarction 33
590 LYM043 Lymphocytic Hypophysitis 32
591 P PLY188 Polyendocrinopathy 32
592 c 46X049 46,xy Sex Reversal 2 32
593 ADR057 Adrenogenital Syndrome 32
594 c RRD013 Rare Diabetes Mellitus Type 2 32
595 OVR109 Ovarian Germ Cell Teratoma 32
596 THY108 Thymic Neuroendocrine Tumor 31
597 GRN009 Granulomatous Hepatitis 31
598 OVR123 Ovarian Seromucinous Carcinoma 31
599 BRN137 Bronchial Neuroendocrine Tumor 31
600 P OVR045 Ovarian Clear Cell Adenofibroma 30
601 PTT044 Pituitary Hormone Deficiency, Combined, 4 30
602 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 30
603 c CNG562 Congenital Hypogonadotropic Hypogonadism 30
604 CMB001 Combined Thymoma 30
605 OVR009 Ovarian Gonadoblastoma 30
606 CRT020 Cortisone Reductase Deficiency 30
607 P TST016 Testicular Granulosa Cell Tumor 29
608 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 29
609 c THY071 Thyroid Dyshormonogenesis 1 29
610 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 29
611 SYN116 Syndromic Obesity 29
612 c TYP010 Type C Thymoma 28
613 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 28
614 c 46X048 46,xx Sex Reversal 2 28
615 THY039 Thyrotropin-Releasing Hormone Deficiency 28
616 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 28
617 c OVR076 Ovarian Dysgenesis 2 28
618 TST020 Testis Seminoma 28
619 PTT016 Patterson Pseudoleprechaunism Syndrome 28
620 EPS001 Epstein-Barr Virus Hepatitis 28
621 c ACQ043 Acquired Lipodystrophy 27
622 CYS015 Cystadenofibroma 27
623 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 27
624 PNC028 Pancreatic Steatorrhea 27
625 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
626 c ATM014 Autoimmune Disease of Endocrine System 27
627 END036 Endocrine Organ Benign Neoplasm 27
628 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 27
629 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 27
630 c JVN024 Juvenile Hereditary Hemochromatosis 26
631 THY098 Thyroid Ectopia 26
632 SBC005 Subacute Lymphocytic Thyroiditis 26
633 GLC043 Glucocorticoid Deficiency 2 26
634 P TTR028 Tetraamelia Syndrome 1 26
635 c CHR018 Chronic Salpingo-Oophoritis 25
636 TST007 Testicular Infarct 25
637 DFN313 Deafness-Hypogonadism Syndrome 25
638 OVR021 Ovarian Lymphoma 25
639 c HYP831 Hyperparathyroidism, Transient Neonatal 25
640 c PRM089 Premature Ovarian Failure 3 25
641 OVR039 Ovarian Mesodermal Adenosarcoma 24
642 FNC050 Functioning Gonadotropic Adenoma 24
643 c PRR024 Perrault Syndrome 3 24
644 c ATM067 Autoimmune Polyendocrinopathy Type 3 24
645 c PTT060 Pituitary Adenoma 5, Multiple Types 24
646 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
647 SPN048 Spindle Cell Thymoma 24
648 c NPH105 Nephrotic Syndrome, Type 17 24
649 PRD041 Periodic Fever, Menstrual Cycle-Dependent 24
650 c HYP819 Hyperlipoproteinemia, Type Id 24
651 c PRR022 Perrault Syndrome 2 24
652 P PRX064 Peroxisome Biogenesis Disorder 2b 24
653 ARD001 Aredyld 24
654 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 24
655 MXD014 Mixed Ductal-Endocrine Carcinoma 24
656 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 24
657 c RRH009 Rare Hypothyroidism 23
658 MLG078 Malignant Pineal Area Germ Cell Neoplasm 23
659 OBS067 Obesity Due to Melanocortin 4 Receptor Deficiency 23
660 P BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 23
661 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 23
662 c OVR107 Ovarian Dysgenesis 4 23
663 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 23
664 PDT003 Pediatric Ovarian Dysgerminoma 23
665 c DBT094 Diabetes Mellitus, Insulin-Dependent, 10 22
666 DDN028 Duodenal Neuroendocrine Tumor 22
667 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 22
668 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 22
669 MCN003 Mucinous Ovarian Cystadenoma 22
670 c PRG137 Paragangliomas 6 22
671 c DBT038 Diabetes Mellitus, Insulin-Dependent, 5 22
672 MCN010 Mucinous Cystadenofibroma 22
673 IGG015 Igg4-Related Thyroid Disease 22
674 c HLP022 Holoprosencephaly 8 22
675 TST005 Testicular Gonadoblastoma 22
676 c TYP029 Type 1 Diabetes Mellitus 3 22
677 c ADL043 Adult Type Testicular Granulosa Cell Tumor 22
678 c MLG033 Malignant Ovarian Cyst 22
679 c ATM066 Autoimmune Polyendocrinopathy Type 4 22
680 CHF001 Chief Cell Adenoma 21
681 c TTR029 Tetraamelia Syndrome 2 21
682 c OVR119 Ovarian Dysgenesis 7 21
683 LVR001 Liver Lipoma 21
684 c PRM295 Premature Ovarian Failure 15 21
685 GRN002 Granulomatous Orchitis 21
686 c HLP021 Holoprosencephaly 6 21
687 TST012 Testicular Fibroma 21
688 c TYP033 Type 1 Diabetes Mellitus 7 20
689 c OVR115 Ovarian Dysgenesis 5 20
690 PNC024 Pancreatic Colloid Cystadenoma 20
691 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
692 MXD007 Mixed Hepatoblastoma 20
693 c TYP040 Type 1 Diabetes Mellitus 18 20
694 c 46X011 46, Xy Disorders of Sexual Development 20
695 BNG086 Bangstad Syndrome 20
696 c OVR120 Ovarian Dysgenesis 8 20
697 MYX002 Myxoid Liposarcoma of the Ovary 20
698 GRW032 Growth Factors, Combined Defect of 20
699 c ACT031 Acute Salpingo-Oophoritis 19
700 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 19
701 PRP107 Peripheral Hypothyroidism 19
702 c 46X046 46,xy Sex Reversal 4 19
703 c FML275 Familial Hypoaldosteronism 19
704 DST037 Distal Monosomy 9p 19
705 c TYP039 Type 1 Diabetes Mellitus 17 19
706 PNL009 Pineal Region Choriocarcinoma 19
707 TST040 Testicular Trophoblastic Tumor 19
708 PRM331 Primary Hypophysitis 18
709 c BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 18
710 ATY007 Atypical Follicular Adenoma 18
711 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 18
712 TST013 Testicular Thecoma 18
713 P PRM210 Primary Lipodystrophy 18
714 BMF002 Bamforth Syndrome 18
715 CLL011 Colloid Adenoma 18
716 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 18
717 GRF006 Grfoma 17
718 c DBT057 Diabetes Mellitus, Insulin-Dependent, 6 17
719 PRT021 Parathyroid Transitional Clear Cell Adenoma 17
720 c DBT059 Diabetes Mellitus, Insulin-Dependent, 8 17
721 MYT025 Myotubular Myopathy with Abnormal Genital Development 17
722 c LPR020 Leprosy 6 17
723 BLT017 Bilateral Massive Adrenal Hemorrhage 17
724 c NNS019 Nonsyndromic Holoprosencephaly 16
725 c LFR009 Li-Fraumeni Syndrome 1 16
726 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
727 c DBT049 Diabetes Mellitus, Insulin-Dependent, 13 16
728 ADL056 Adult Pineal Parenchymal Tumor 15
729 c PRM344 Premature Ovarian Failure 16 15
730 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
731 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
732 TST041 Testicular Germ Cell Tumor Non-Seminomatous 15
733 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15
734 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 15
735 c TFR001 Tfr2-Related Hereditary Hemochromatosis 15
736 PNL001 Pineal Gland Astrocytoma 15
737 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
738 c BLR025 Biliary Cirrhosis, Primary, 4 14
739 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 14
740 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
741 PRM146 Primary Unilateral Adrenal Hyperplasia 13
742 c KLL008 Kallmann Syndrome 6 13
743 c ATM056 Autoimmune Thyroid Disease 1 13
744 XLN112 X-Linked Intellectual Disability, Cilliers Type 13
745 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 13
746 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
747 GNT041 Genetic Lipodystrophy 13
748 TST019 Testis Sarcoma 13
749 46X015 46,xy Ovotesticular Disorder of Sex Development 12
750 BRS039 Breast Fibroadenosis 12
751 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 12
752 INF124 Infundibulo-Neurohypophysitis 12
753 c ATM057 Autoimmune Thyroid Disease 2 12
754 PPL010 Papillary Follicular Thyroid Adenocarcinoma 12
755 OVR031 Ovarian Papillary Cystadenoma 12
756 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 12
757 PTT039 Pituitary Dermoid and Epidermoid Cysts 12
758 c ERL059 Early-Onset Familial Hypoaldosteronism 12
759 SXC004 Sex Chromosome Disorder of Sex Development 12
760 MLG159 Malignant Pediatric Adrenal Gland Pheochromocytoma 12
761 c LTN026 Late-Onset Familial Hypoaldosteronism 12
762 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 11
763 PST112 Post-Traumatic Pituitary Deficiency 11
764 NNN002 Noninvasive Malignant Thymoma 11
765 ECT055 Ectopic Aldosterone-Producing Tumor 11
766 OBS060 Obesity Due to Sim1 Deficiency 11
767 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 11
768 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
769 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 10
770 PNL015 Pineal Region Teratoma 10
771 NLL003 Null Pituitary Adenoma 10
772 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
773 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 10
774 INT222 Intermediate Dend Syndrome 10
775 c SCN039 Secondary Central Precocious Puberty 10
776 TBR005 Tuberculous Oophoritis 9
777 OVR008 Ovarian Mucinous Cystadenofibroma 9
778 c RRD012 Rare Diabetes Mellitus Type 1 9
779 PNL010 Pineal Region Yolk Sac Tumor 9
780 BSP005 Basophilic Adenocarcinoma 8
781 GNT039 Genetic Transient Congenital Hypothyroidism 8
782 PNL005 Pineal Region Immature Teratoma 8
783 RRP032 Rare Parathyroid Tumor 8
784 MCR005 Macrotrabecular Hepatoblastoma 8
785 OVR038 Ovarian Fetiform Teratoma 8
786 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 8
787 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
788 c ACQ064 Acquired Premature Ovarian Failure 8
789 RRD066 Rare Dyslipidemia 7
790 PNC026 Pancreatic Mucinous Ductal Ectasia 7
791 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
792 c RRP025 Rare Precocious Puberty 7
793 PNL004 Pineal Region Mature Teratoma 7
794 OVR019 Ovarian Malignant Mesothelioma 7
795 TST008 Testis Polyembryoma 7
796 P RRH006 Rare Hyperlipidemia 6
797 PNL008 Pineal Dysgerminoma 6
798 c RRH010 Rare Hypoparathyroidism 6
799 c MLG034 Malignant Type a Thymoma 6
800 CHL011 Childhood Immature Teratoma of Ovary 6
801 OVR036 Ovarian Endometrioid Cystadenofibroma 6
802 GST003 Gastrin Secretion Abnormality 6
803 OVR028 Ovarian Squamous Cell Neoplasm 5
804 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 5
805 c BTT015 Beta-Thalassemia and Related Diseases 5
806 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
807 OVR014 Ovarian Clear Cell Cystadenofibroma 5
808 PLY009 Polyembryoma of the Ovary 5
809 ADR006 Adrenal Gland Ganglioneuroblastoma 5
810 c RRH005 Rare Hypoaldosteronism 5
811 DZX004 Diazoxide-Sensitive Diffuse Hyperinsulinism 5
812 DZX005 Diazoxide-Resistant Hyperinsulinism 5
813 c MLG009 Malignant Testicular Leydig Cell Tumor 5
814 TST042 Testicular Pure Germ Cell Tumor 5
815 TBL005 Tubular Variant Testicular Seminoma 5
816 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
817 CRB003 Cribriform Variant Testicular Seminoma 5
818 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
819 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
820 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
821 PSD013 Pseudoglandular Variant Testicular Seminoma 5
822 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
823 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
824 P RRH027 Rare Hypercholesterolemia 5
825 MXD018 Mixed Cell Type Adenoma of Parathyroid 4
826 MXD048 Mixed Functioning Pituitary Adenoma 4
827 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 4
828 NNR001 Non-Renal Secondary Hyperparathyroidism 4
829 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
830 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
831 NNC018 Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations 4
832 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
833 NNC017 Non-Acquired Pituitary Hormone Deficiency 4
834 c FRG005 Fragile X Syndrome Type 2 4
835 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
836 c RRD014 Rare Adult Hypothyroidism 4
837 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
838 RRH007 Rare Hypolipidemia 4
839 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
840 RRH003 Rare Hypothalamic or Pituitary Disease 3
841 RRP003 Rare Peripheral Precocious Puberty 3
842 RRS009 Rare Surgically Correctable Form of Primary Aldosteronism 3
843 RRN011 Rare Non Surgically Correctable Form of Primary Aldosteronism 3
844 PTT064 Pituitary Hormone Deficiency Secondary to Storage Disease 3
845 DSS031 Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency 3
846 c ACQ068 Acquired Chronic Primary Adrenal Insufficiency 3
847 MLT176 Multiple Polyglandular Tumor 3
848 CRT035 Cretinism Athyreotic 3
849 c GNT178 Genetic Chronic Primary Adrenal Insufficiency 3
850 HYP849 Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies 3
851 c 46X067 46,xx Disorder of Gonadal Development 3
852 RRD020 Rare Disease with Cushing Syndrome As a Major Feature 3
853 ADR058 Adrenal/paraganglial Tumor 3
854 NRN048 Neuroendocrine Tumor with Other Location 3
855 NNS030 Non-Secreting Chemodectoma 2
856 MLN047 Melanoma-Pancreatic Cancer Syndrome 29
857 DYS002 Dysplastic Nevus Syndrome 53
858 RRC013 Rare Carcinoma of Pancreas 34
859 OBS872 Obsolete: Carcinoma of Stomach, Salivary Gland Type 5
860 IMM177 Immunodeficiency 54 29
861 IGG007 Igg4-Related Disease 47
862 CYL004 Cylindromatosis, Familial 37
863 WBB001 Webb-Dattani Syndrome 23
864 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 14
865 FRS005 Fraser Jequier Chen Syndrome 6
866 LPD012 Lipoid Congenital Adrenal Hyperplasia 71
867 P SHW006 Shwachman-Diamond Syndrome 1 66
868 P TRN020 Turner Syndrome 65
869 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 64
870 P KLL001 Kallmann Syndrome 64
871 P ADN016 Adenocarcinoma 64
872 DNH001 Donohue Syndrome 62
873 ALC006 Alcoholic Hepatitis 61
874 PRT013 Portal Hypertension 60
875 CFF002 Coffin-Lowry Syndrome 60
876 P ECT006 Ectodermal Dysplasia 59
877 DBT087 Diabetes Insipidus, Neurohypophyseal 59
878 THY122 Thyroid Gland Cancer 58
879 ALL001 Allan-Herndon-Dudley Syndrome 56
880 OVR012 Ovarian Serous Cystadenocarcinoma 56
881 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
882 HYP732 Hyperalphalipoproteinemia 1 56
883 c SML009 Small Intestine Adenocarcinoma 56
884 P HYP024 Hypoparathyroidism 55
885 P GRV001 Graves' Disease 55
886 ZLL002 Zollinger-Ellison Syndrome 55
887 c NPH055 Nephrotic Syndrome, Type 1 55
888 CRC006 Carcinoid Syndrome 55
889 HMZ003 Homozygous Familial Hypercholesterolemia 55
890 P DBT005 Diabetes Insipidus 55
891 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 55
892 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
893 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 54
894 ACT238 Acth Deficiency, Isolated 54
895 c THY107 Thymoma, Familial 54
896 ALC009 Alcoholic Liver Cirrhosis 53
897 P HYP730 Hypogonadotropic Hypogonadism 53
898 P HYP083 Hypopituitarism 53
899 P OVR106 Ovarian Clear Cell Carcinoma 51
900 PRC038 Precocious Puberty, Male-Limited 51
901 c BRD014 Bardet-Biedl Syndrome 2 51
902 FML026 Familial Lipoprotein Lipase Deficiency 51
903 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
904 THY125 Thyroid Gland Medullary Carcinoma 51
905 LRN001 Laurence-Moon Syndrome 51
906 c ACT134 Acute Liver Failure 51
907 c PNC106 Pancreatic Agenesis 1 50
908 PRT018 Portal Vein Thrombosis 50
909 ALV002 Alveolar Echinococcosis 50
910 c HYP843 Hypoalphalipoproteinemia, Primary, 2 49
911 INP001 Inappropriate Adh Syndrome 49
912 ADN009 Adenosquamous Carcinoma 49
913 c BRD018 Bardet-Biedl Syndrome 6 48
914 PTT008 Pituitary Carcinoma 48
915 BRR012 Berardinelli-Seip Congenital Lipodystrophy 48
916 c ACT150 Acute Adrenal Insufficiency 48
917 THY123 Thyroid Gland Follicular Carcinoma 48
918 TST044 Testicular Torsion 47
919 LPT006 Leptin Receptor Deficiency 47
920 NRN001 Neuroendocrine Carcinoma 47
921 PNC013 Pancreatic Ductal Carcinoma 47
922 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 47
923 MRT007 Martsolf Syndrome 47
924 P PRS049 Persistent Mullerian Duct Syndrome 47
925 PNC034 Pancreas Disease 46
926 TST014 Testicular Cancer 46
927 c BRD032 Bardet-Biedl Syndrome 14 46
928 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 46
929 P HYP347 Hypotonia-Cystinuria Syndrome 46
930 GST030 Gastrinoma 45
931 NLS001 Nelson Syndrome 45
932 GLC036 Glucagonoma 45
933 P SXD002 Sex Development Disorder 45
934 ECC004 Eccrine Porocarcinoma 44
935 c BRD016 Bardet-Biedl Syndrome 4 44
936 c HYP840 Hypercholesterolemia, Familial, 4 44
937 OHD005 Ohdo Syndrome, Sbbys Variant 44
938 MRG013 Mirage Syndrome 44
939 EMP001 Empty Sella Syndrome 44
940 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 44
941 IMM064 Immunodeficiency, Common Variable, 10 44
942 P HYP121 Hypoalphalipoproteinemia 43
943 PNC118 Pancreas, Annular 43
944 P LYD001 Leydig Cell Tumor 43
945 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 43
946 HPT067 Hepatocellular Adenoma 43
947 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 43
948 PDT042 Pediatric Hepatocellular Carcinoma 43
949 c FML294 Familial Short Qt Syndrome 43
950 NNF007 Non-Functioning Pituitary Adenoma 42
951 c ADN012 Adenocarcinoma in Situ 42
952 P PRR025 Perrault Syndrome 41
953 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 41
954 P GRW001 Growth Hormone Secreting Pituitary Adenoma 41
955 c BRD048 Bardet-Biedl Syndrome 18 40
956 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40
957 c NPH072 Nephrotic Syndrome, Type 7 39
958 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 39
959 c MLG157 Malignant Pheochromocytoma 39
960 SML028 Semilobar Holoprosencephaly 39
961 HYP856 Hypothyroidism, Central, with Testicular Enlargement 39
962 OVR034 Ovarian Clear Cell Adenocarcinoma 38
963 CRT046 Corticosteroid-Binding Globulin Deficiency 38
964 TST004 Testicular Lymphoma 38
965 ARC025 Arachnoid Cysts, Intracranial 38
966 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 38
967 HYP835 Hypothalamic Obesity 38
968 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 38
969 c HMG029 Hemoglobin Se Disease 38
970 PNC016 Pancreatic Cholera 38
971 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 38
972 c HYP841 Hypoalphalipoproteinemia, Primary, 1 37
973 HRM003 Hormone Producing Pituitary Cancer 37
974 OVR105 Ovarian Serous Carcinoma 37
975 HPT082 Hepatic Adenomas, Familial 37
976 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 36
977 c CNG608 Congenital Hypopituitarism 36
978 c LYD012 Leydig Cell Hypoplasia, Type I 36
979 c PRM340 Primary Adrenal Insufficiency 36
980 c HMG004 Hemoglobin D Disease 36
981 OVR051 Ovarian Endodermal Sinus Tumor 35
982 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
983 OVR047 Ovarian Cystadenocarcinoma 35
984 OVR011 Ovarian Mucinous Adenocarcinoma 35
985 P CNT037 Central Nervous System Germinoma 35
986 PNC039 Pancreatic Cystadenoma 35
987 CHR034 Chromophobe Adenoma 35
988 c JVN002 Juvenile Type Testicular Granulosa Cell Tumor 35
989 CHR525 Chromosome Xq26.3 Duplication Syndrome 34
990 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 34
991 PNC043 Pancreatic Intraductal Papillary-Mucinous Neoplasm 34
992 PNC027 Pancreatic Gastrinoma 34
993 EXT054 Extra-Adrenal Pheochromocytoma 34
994 ECC003 Eccrine Papillary Adenoma 34
995 c MCR245 Microphthalmia, Syndromic 8 34
996 TST010 Testicular Spermatocytic Seminoma 33
997 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 33
998 HPT006 Hepatic Angiomyolipoma 33
999 MLG048 Malignant Acrospiroma 33
1000 c SPR094 Sporadic Pheochromocytoma 32
1001 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 32
1002 TMR001 Tumor of Exocrine Pancreas 32
1003 GBL002 Goblet Cell Carcinoid 32
1004 c MLG053 Malignant Ovarian Brenner Tumor 32
1005 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 32
1006 HPT008 Hepatic Tuberculosis 32
1007 c CRP022 Carpenter Syndrome 2 32
1008 P TST048 Testicular Sex Cord-Stromal Neoplasm 32
1009 THY026 Thymus Gland Disease 32
1010 48X003 48,xxyy Syndrome 31
1011 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 31
1012 ADR023 Adrenomyodystrophy 31
1013 PRL010 Prolactin Producing Pituitary Tumor 31
1014 IMM005 Immature Teratoma of Ovary 31
1015 c PRG019 Paragangliomas 2 31
1016 HMN004 Hemangioma of Liver 31
1017 DRM005 Dermoid Cyst of Ovary 31
1018 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 31
1019 c BLR024 Biliary Cirrhosis, Primary, 1 30
1020 c SHR032 Short Qt Syndrome 2 30
1021 SPR018 Spermatocytoma 30
1022 OVR013 Ovarian Mucinous Cystadenocarcinoma 30
1023 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
1024 P HRD022 Hordeolum 30
1025 c 46X057 46,xy Sex Reversal 8 30
1026 c ATM111 Autoimmune Hepatitis Type 2 30
1027 THY069 Thyroid Hormone Resistance, Selective Pituitary 29
1028 ADR014 Adrenal Medulla Cancer 29
1029 SPT016 Septopreoptic Holoprosencephaly 29
1030 DDN002 Duodenal Gastrinoma 29
1031 GRW026 Growth Hormone Insensitivity, Partial 29
1032 PNC127 Pancreatic Adenosquamous Carcinoma 29
1033 LVR010 Liver Leiomyosarcoma 29
1034 LVR005 Liver Leiomyoma 29
1035 DCR009 Dicer1-Related Disorders 28
1036 c NPH096 Nephrotic Syndrome, Type 12 28
1037 P THY061 Thyroid Dyshormonogenesis 2a 28
1038 LVR004 Liver Inflammatory Pseudotumor 28
1039 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 28
1040 c DBT032 Diabetes Mellitus, Insulin-Dependent, 22 28
1041 c THY056 Thyroid Dyshormonogenesis 3 28
1042 c PRX058 Peroxisome Biogenesis Disorder 4b 28
1043 SCN001 Secondary Hyperparathyroidism of Renal Origin 28
1044 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
1045 ISL125 Isolated Growth Hormone Deficiency Type Iii 28
1046 c PRM254 Premature Ovarian Failure 11 27
1047 OVR002 Ovarian Serous Cystadenofibroma 27
1048 c THY018 Thymus Clear Cell Carcinoma 27
1049 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
1050 P LRG016 Large Intestine Adenocarcinoma 27
1051 KWR001 Kowarski Syndrome 27
1052 c INF138 Infantile Liver Failure Syndrome 2 27
1053 FTL062 Fetal Iodine Deficiency Disorder 27
1054 OVR040 Ovarian Clear Cell Cystadenocarcinoma 27
1055 MCR014 Microcystic Adenoma 27
1056 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 27
1057 c NPH076 Nephrotic Syndrome, Type 10 26
1058 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
1059 P TST001 Testicular Leydig Cell Tumor 26
1060 TST003 Testicular Leukemia 26
1061 NNN001 Nonencapsulated Sclerosing Carcinoma 26
1062 c THY063 Thyroid Dyshormonogenesis 4 26
1063 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
1064 OVR017 Ovarian Cystic Teratoma 26
1065 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
1066 PNC031 Pancreatic Foamy Gland Adenocarcinoma 26
1067 PNL023 Penile Agenesis 26
1068 c SHW007 Shwachman-Diamond Syndrome 2 25
1069 ADR003 Adrenal Neuroblastoma 25
1070 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 25
1071 PNC009 Pancreas Sarcoma 25
1072 PNL002 Pineal Parenchymal Tumor of Intermediate Differentiation 25
1073 c BRD051 Bardet-Biedl Syndrome 20 25
1074 PNC018 Pancreatic Serous Cystadenoma 25
1075 ENC001 Encapsulated Thymoma 25
1076 GNT043 Genitopalatocardiac Syndrome 25
1077 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
1078 DPL009 Duplication of the Pituitary Gland 25
1079 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
1080 EPD012 Epididymal Neoplasm 25
1081 PST034 Posterior Pituitary Gland Neoplasm 25
1082 c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 25
1083 HYP683 Hypogonadism-Cataract Syndrome 24
1084 ANS010 Anus Adenocarcinoma 24
1085 c NNN029 Noonan Syndrome 11 24
1086 THY127 Thyroid Gland Hurthle Cell Carcinoma 24
1087 HMT001 Hematocele of Tunica Vaginalis Testis 24
1088 HYP611 Hypoparathyroidism, X-Linked 24
1089 URC004 Urachal Cancer 24
1090 c PRM207 Premature Ovarian Failure 10 24
1091 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
1092 PLY003 Polycystic Echinococcosis 24
1093 OVR020 Ovarian Wilms' Cancer 24
1094 c MLG072 Malignant Leydig Cell Tumor 24
1095 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 23
1096 THY016 Thyroid Hurthle Cell Adenoma 23
1097 c HYP311 Hyperparathyroidism 3 23
1098 c MCR228 Microphthalmia, Syndromic 13 23
1099 EPT007 Epithelial Malignant Thymoma 23
1100 c PTT061 Pituitary Adenoma 3, Multiple Types 23
1101 c 46X058 46,xy Sex Reversal 10 23
1102 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 23
1103 c PRM090 Premature Ovarian Failure 6 22
1104 OVR104 Ovarian Melanoma 22
1105 MTR011 Mature Teratoma of the Ovary 22
1106 c HRD156 Hereditary Central Diabetes Insipidus 22
1107 ILL008 Ileal Neuroendocrine Tumor 21
1108 c PRS050 Prss1-Related Hereditary Pancreatitis 21
1109 PDT022 Pediatric Ovarian Germ Cell Tumor 21
1110 c THY110 Thyroid Dyshormonogenesis 6 21
1111 TTR018 Tetragametic Chimerism 21
1112 FML019 Familiar Ovarian Carcinoma 21
1113 LVR007 Liver Fibroma 21
1114 PPL015 Papillary Thymic Adenocarcinoma 21
1115 FTL005 Fetal Adenoma 21
1116 OVR061 Ovary Sarcoma 21
1117 c ATM050 Autoimmune Thyroid Disease 3 20
1118 c SRC024 Sarcoidosis 3 20
1119 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 20
1120 c MLG022 Malignant Sertoli Cell Tumor 20
1121 LVR009 Liver Rhabdomyosarcoma 20
1122 DST011 Distal Chromosome 18q Deletion Syndrome 20
1123 c INT047 Internal Hordeolum 20
1124 THY017 Thymus Sarcomatoid Carcinoma 20
1125 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
1126 c CHR695 Chronic Primary Adrenal Insufficiency 19
1127 NRN045 Neuroendocrine Neoplasm of Appendix 19
1128 MXD027 Mixed Type Thymoma 19
1129 c 46X060 46,xx Disorder of Sex Development 19
1130 c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 19
1131 SMT017 Somatomammotropinoma 19
1132 c PRM255 Premature Ovarian Failure 12 18
1133 c TYP038 Type 1 Diabetes Mellitus 15 18
1134 c PRG138 Paragangliomas 7 18
1135 c PNC105 Pancreatic Agenesis 2 18
1136 c HYP858 Hypothyroidism, Congenital, Nongoitrous, 9 18
1137 c THY100 Thyroid Cancer, Nonmedullary, 4 18
1138 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 17
1139 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
1140 THY126 Thyroid Gland Mucoepidermoid Carcinoma 17
1141 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17
1142 NRH002 Neurohypophysis Granular Cell Tumor 17
1143 c LPR016 Leprosy 4 17
1144 c TST017 Testicular Malignant Germ Cell Cancer 17
1145 MLT005 Multicentric Papillary Thyroid Carcinoma 17
1146 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 17
1147 SLN005 Silent Pituitary Adenoma 16
1148 P RSS029 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha 16
1149 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 16
1150 OVR033 Ovary Papillary Carcinoma 16
1151 GLL034 Gallbladder Neuroendocrine Tumor 15
1152 OVR016 Ovarian Endometrioid Stromal Sarcoma 15
1153 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 15
1154 c THY085 Thymoma Type a 15
1155 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 14
1156 c MYC055 Mycobacterium Tuberculosis 3 14
1157 THY010 Thymus Mucoepidermoid Carcinoma 14
1158 c THY087 Thymoma Type Ab 14
1159 PNC126 Pancreatic Squamous Cell Carcinoma 14
1160 c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 14
1161 c BLR026 Biliary Cirrhosis, Primary, 5 14
1162 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 14
1163 JJN009 Jejunal Neuroendocrine Tumor 14
1164 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 13
1165 c THY086 Thymoma Type B 13
1166 c DSR027 Disorders of Vitamin D Metabolism 12
1167 XSM001 X Small Rings 12
1168 c DBT052 Diabetes Mellitus, Insulin-Dependent, 18 12
1169 c RSS030 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta 12
1170 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 12
1171 NRN032 Neuroendocrine Tumor of Anal Canal 12
1172 c RRH011 Rare Hyperparathyroidism 12
1173 TRB001 Trabecular Follicular Adenocarcinoma 12
1174 c KLL005 Kallmann Syndrome 3 11
1175 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 11
1176 c RRH008 Rare Hyperthyroidism 11
1177 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
1178 PDT023 Pediatric Testicular Germ Cell Tumor 10
1179 MDD017 Middle Ear Neuroendocrine Tumor 9
1180 TST011 Testis Rhabdomyosarcoma 9
1181 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 8
1182 c ECT114 Ectodermal Dysplasia 10b 8
1183 c RRD011 Rare Disorder with Hypogonadotropic Hypogonadism 8
1184 P RRT025 Rare Thyroid Disease 7
1185 MLG017 Malignant Tumor of Undescended Testis 7
1186 c ALP107 Alpha-Thalassemia and Related Diseases 7
1187 CHL038 Childhood Choriocarcinoma of the Ovary 7
1188 TST002 Testicular Brenner Tumor 7
1189 RTV002 Rete Ovarii Adenocarcinoma 7
1190 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 7
1191 CLS051 Classic Neuroendocrine Tumor of Appendix 6
1192 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
1193 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
1194 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
1195 c MLG040 Malignant Type Ab Thymoma 6
1196 c ADL036 Adult Central Nervous System Germinoma 6
1197 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1198 CHL036 Childhood Mature Teratoma of the Ovary 6
1199 CHL063 Childhood Teratoma of the Ovary 6
1200 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 6
1201 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 6
1202 TST009 Testis Refractory Cancer 6
1203 PNC040 Pancreatic Delta Cell Neoplasm 5
1204 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
1205 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
1206 OVR007 Ovarian Endometrioid Cystadenoma 5
1207 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1208 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1209 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
1210 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
1211 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
1212 NNC016 Non-Acquired Premature Ovarian Failure 5
1213 ACQ065 Acquired Pituitary Hormone Deficiency 5
1214 P RRN005 Rare Insulin-Resistance Syndrome 5
1215 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1216 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
1217 PRT020 Parathyroid Oncocytic Adenoma 4
1218 P SYC001 Say Carpenter Syndrome 4
1219 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1220 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
1221 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
1222 c FRG004 Fragile X Syndrome Type 1 4
1223 c OVR071 Ovarian Insufficiency, Familial 4
1224 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 4
1225 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
1226 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1227 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
1228 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 4
1229 c TST047 Testicular Sex Cord-Stromal Benign Neoplasm 3
1230 OBS083 Obesity Due to Congenital Leptin Resistance 3
1231 GNT051 Genetic Non-Syndromic Obesity 3
1232 PTT065 Pituitary Hormone Deficiency Secondary to a Granulomatous Disease 3
1233 PTT066 Pituitary Hormone Deficiency of Meningeal Origin 3
1234 PTT067 Pituitary Hormone Deficiency of Tumoral Origin 3
1235 RRS005 Rare Syndromic Dyslipidemia 3
1236 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 3
1237 OTH013 Other Rare Diabetes Mellitus 3
1238 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 3
1239 RRN018 Rare Endocrine Growth Disease 3
1240 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 18
1241 INS024 Insulin-Like Growth Factor I 79
1242 CNN003 Conn's Syndrome 79
1243 LPT014 Leptin Deficiency or Dysfunction 73
1244 P ALG028 Alagille Syndrome 1 73
1245 c BTT014 Beta-Thalassemia 72
1246 SCK003 Sickle Cell Anemia 72
1247 P SRC025 Sarcoidosis 1 70
1248 P LVR013 Liver Disease 68
1249 PNC129 Pancreatic Adenocarcinoma 67
1250 ADR054 Adrenocortical Carcinoma, Hereditary 66
1251 CHY002 Chylomicron Retention Disease 64
1252 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 64
1253 HYP020 Hyperprolactinemia 64
1254 CRB011 Cerebrotendinous Xanthomatosis 63
1255 PTT046 Pituitary Hormone Deficiency, Combined, 2 63
1256 SPT006 Septooptic Dysplasia 63
1257 P THR117 Three M Syndrome 1 63
1258 OVR029 Ovarian Hyperstimulation Syndrome 63
1259 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
1260 P PNC044 Pancreatitis 61
1261 WST001 West Syndrome 60
1262 P THL005 Thalassemia 60
1263 CHR072 Chordoma 59
1264 P WLF004 Wolfram Syndrome 59
1265 CLS005 Clouston Syndrome 59
1266 c HPT016 Hepatitis B 59
1267 c MLT159 Multiple Endocrine Neoplasia, Type Iib 59
1268 THY025 Thymus Cancer 58
1269 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 58
1270 c PTT056 Pituitary Adenoma 1, Multiple Types 58
1271 c THY102 Thyroid Cancer, Nonmedullary, 2 57
1272 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 57
1273 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57
1274 DNY001 Denys-Drash Syndrome 57
1275 c MYT020 Myotonic Dystrophy 2 57
1276 c CRP023 Carpenter Syndrome 1 56
1277 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
1278 HPT022 Hepatoblastoma 56
1279 ADR008 Adrenal Adenoma 56
1280 PSD021 Pseudovaginal Perineoscrotal Hypospadias 55
1281 c GRV008 Graves Disease 1 55
1282 P HYP076 Hyperthyroidism 55
1283 AND020 Androgen Insensitivity, Partial 55
1284 VTM027 Vitamin D-Dependent Rickets, Type 2a 55
1285 VSC003 Visceral Leishmaniasis 55
1286 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54
1287 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 54
1288 P PRG013 Paraganglioma 52
1289 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52
1290 PRG017 Paraganglioma and Gastric Stromal Sarcoma 52
1291 JHN001 Johanson-Blizzard Syndrome 52
1292 THY124 Thyroid Gland Papillary Carcinoma 52
1293 DFF036 Differentiated Thyroid Carcinoma 51
1294 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 51
1295 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 51
1296 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51
1297 PNC041 Pancreatic Ductal Adenocarcinoma 51
1298 c SCN007 Secondary Hyperparathyroidism 50
1299 CHN054 Chondrodysplasia, Blomstrand Type 50
1300 CYS008 Cystic Echinococcosis 50
1301 VPM001 Vipoma 50
1302 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 49
1303 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 48
1304 PTT004 Pituitary Apoplexy 48
1305 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 48
1306 c BRD020 Bardet-Biedl Syndrome 8 48
1307 c HYP837 Hypercholesterolemia, Familial, 2 48
1308 ARM004 Aromatase Excess Syndrome 47
1309 c RCR022 Recurrent Acute Pancreatitis 47
1310 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47
1311 PLR023 Polr3-Related Leukodystrophy 46
1312 c CNG190 Congenital Disorder of Glycosylation, Type Iib 46
1313 SHH001 Sheehan Syndrome 46
1314 P PSD003 Pseudohypoaldosteronism 45
1315 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 45
1316 TBR006 Tuberculoid Leprosy 45
1317 DBT090 Diabetes and Deafness, Maternally Inherited 45
1318 END035 Endocrine Gland Cancer 44
1319 c BRD013 Bardet-Biedl Syndrome 12 44
1320 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
1321 P TST026 Testicular Germ Cell Cancer 44
1322 CLN003 Clonorchiasis 43
1323 c 46X001 46 Xy Gonadal Dysgenesis 43
1324 TST015 Testicular Disease 43
1325 c HYP272 Hypercholesterolemia, Familial, 3 43
1326 OVR112 Ovarian Germ Cell Cancer 43
1327 LVR002 Liver Angiosarcoma 43
1328 TRP009 Triple X Syndrome 42
1329 ONC003 Oncogenic Osteomalacia 42
1330 ECT093 Ectopic Cushing Syndrome 42
1331 c LFR007 Li-Fraumeni Syndrome 2 42
1332 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 42
1333 P FML156 Familial Hyperaldosteronism 41
1334 P HRD086 Hereditary Hypophosphatemic Rickets 40
1335 BSM002 Bosma Arhinia Microphthalmia Syndrome 40
1336 PNC015 Pancreatic Acinar Cell Adenocarcinoma 40
1337 OPS001 Opisthorchiasis 40
1338 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 40
1339 PNL014 Pineal Gland Cancer 40
1340 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 39
1341 EST007 Estrogen Resistance 39
1342 WDH003 Woodhouse-Sakati Syndrome 39
1343 TST018 Testicular Yolk Sac Tumor 39
1344 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 39
1345 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 38
1346 c OVR114 Ovarian Cancer 1 38
1347 c PRG020 Paragangliomas 3 38
1348 ADR004 Adrenal Cortical Adenocarcinoma 38
1349 c OVR058 Ovarian Small Cell Carcinoma 38
1350 c PSD092 Pseudohypoaldosteronism, Type Iie 38
1351 KRK001 Krukenberg Carcinoma 37
1352 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1353 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 37
1354 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 37
1355 c PRG021 Paragangliomas 4 37
1356 NST002 Nestor-Guillermo Progeria Syndrome 37
1357 LYM018 Lymphoepithelioma-Like Thymic Carcinoma 36
1358 DNC004 Diencephalic Syndrome 36
1359 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 36
1360 CHR075 Choriocarcinoma of Ovary 36
1361 P OVR010 Ovarian Brenner Tumor 35
1362 OVR050 Ovarian Embryonal Carcinoma 35
1363 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 35
1364 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
1365 c CNG200 Congenital Disorder of Glycosylation, Type Iq 35
1366 LPS020 Lipase Deficiency, Combined 35
1367 OPT032 Optic Pathway Glioma 35
1368 c 46X055 46,xy Sex Reversal 3 35
1369 c ATM112 Autoimmune Hepatitis Type 1 34
1370 P LYD011 Leydig Cell Hypoplasia 34
1371 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1372 OVR054 Ovarian Mucinous Neoplasm 34
1373 OVR060 Ovary Epithelial Cancer 33
1374 c PSD090 Pseudohypoaldosteronism, Type Iia 33
1375 IMM179 Immunodeficiency 31c 33
1376 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 32
1377 c NPH047 Nephrotic Syndrome, Type 4 32
1378 WTR001 Waterhouse-Friderichsen Syndrome 32
1379 PNC002 Pancreatic Mucinous Cystadenoma 32
1380 EMB006 Embryonal Testis Carcinoma 31
1381 c AXN012 Axenfeld-Rieger Syndrome, Type 2 31
1382 OVR015 Ovarian Mixed Germ Cell Neoplasm 31
1383 OVR062 Ovary Serous Adenocarcinoma 31
1384 ADR001 Adrenal Rest Tumor 31
1385 OVR041 Ovarian Benign Neoplasm 31
1386 P GNR008 Generalized Resistance to Thyroid Hormone 31
1387 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 31
1388 c TYP028 Type 1 Diabetes Mellitus 2 30
1389 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 30
1390 c PSD093 Pseudohypoaldosteronism, Type Iid 30
1391 STY001 Satoyoshi Syndrome 30
1392 OVR103 Ovarian Endometrial Cancer 30
1393 PRS017 Prostate Neuroendocrine Neoplasm 30
1394 PPM002 Ppoma 29
1395 LVR031 Liver Benign Neoplasm 29
1396 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 29
1397 LRY013 Laryngeal Neuroendocrine Tumor 29
1398 BSP001 Basophil Adenoma 29
1399 BRD005 Borderline Leprosy 29
1400 LVR006 Liver Lymphoma 29
1401 PNC006 Pancreatic Somatostatinoma 29
1402 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 28
1403 SCL007 Sclerosing Hepatic Carcinoma 28
1404 INT041 Intratubular Embryonal Carcinoma 28
1405 CPL001 Capillariasis 28
1406 OVR027 Ovarian Squamous Cell Carcinoma 28
1407 TLL001 Tall Cell Variant Papillary Carcinoma 27
1408 FNC003 Functionless Pituitary Adenoma 27
1409 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 27
1410 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 27
1411 CRT005 Cortical Thymoma 27
1412 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 27
1413 c PRX066 Peroxisome Biogenesis Disorder 3b 27
1414 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 26
1415 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 26
1416 c STS011 Sitosterolemia 2 26
1417 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
1418 c THR069 Three M Syndrome 2 26
1419 c PRR021 Perrault Syndrome 4 26
1420 NNG002 Non-Gestational Ovarian Choriocarcinoma 26
1421 THY006 Thymus Lymphoma 26
1422 FML211 Familial Papillary or Follicular Thyroid Carcinoma 26
1423 c 46X017 46,xy Sex Reversal 6 26
1424 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
1425 SML004 Small Intestine Neuroendocrine Neoplasm 26
1426 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
1427 PGD001 Pagod Syndrome 26
1428 c 46X030 46,xy Sex Reversal 9 26
1429 NTM001 Nutmeg Liver 26
1430 PNC038 Pancreatic Cystadenocarcinoma 25
1431 CRT065 Cortisone Reductase Deficiency 1 25
1432 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 25
1433 THY027 Thymus Squamous Cell Carcinoma 25
1434 48X002 48,xxxy Syndrome 25
1435 c NPH095 Nephrotic Syndrome, Type 11 25
1436 c TRN053 Transient Pseudohypoaldosteronism 25
1437 c PSD068 Pseudohypoaldosteronism, Type Iic 25
1438 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
1439 MTC025 Mitochondrial Myopathy with Diabetes 24
1440 CRT066 Cortisone Reductase Deficiency 2 24
1441 NNF001 Non-Functioning Pancreatic Endocrine Tumor 24
1442 P KNN002 Kenny-Caffey Syndrome 24
1443 VNS015 Van Esch-O'driscoll Syndrome 24
1444 THY031 Thyroid Sarcoma 24
1445 c NPH074 Nephrotic Syndrome, Type 9 24
1446 GRW023 Growth Hormone Deficiency, Isolated Partial 24
1447 OVR026 Ovary Transitional Cell Carcinoma 24
1448 HPT011 Hepatocellular Clear Cell Carcinoma 24
1449 THY011 Thymus Basaloid Carcinoma 24
1450 c NPH103 Nephrotic Syndrome, Type 15 24
1451 c 46X047 46,xy Sex Reversal 7 24
1452 c PSD094 Pseudohypoaldosteronism, Type Iib 24
1453 PNC007 Pancreas Lymphoma 23
1454 c PRM192 Premature Ovarian Failure 8 23
1455 OVR003 Ovarian Angiosarcoma 23
1456 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1457 c HYP564 Hypocalcemia, Autosomal Dominant 2 23
1458 c THR096 Three M Syndrome 3 23
1459 THY106 Thyroglossal Duct Cyst, Familial 22
1460 THY024 Thymus Adenocarcinoma 22
1461 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
1462 c NPH106 Nephrotic Syndrome, Type 18 22
1463 c 46X059 46,xx Sex Reversal 4 22
1464 c NNN034 Noonan Syndrome 12 22
1465 c TYP027 Type 1 Diabetes Mellitus 10 22
1466 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 22
1467 c THY008 Thymus Small Cell Carcinoma 21
1468 c ACQ034 Acquired Central Diabetes Insipidus 21
1469 MRB006 Morbid Obesity and Spermatogenic Failure 21
1470 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 21
1471 c THY062 Thyroid Dyshormonogenesis 5 21
1472 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1473 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 21
1474 c PRM253 Premature Ovarian Failure 13 21
1475 c TYP034 Type 1 Diabetes Mellitus 8 21
1476 CLL009 Colloid Carcinoma of the Pancreas 20
1477 NRN047 Neuroendocrine Neoplasm of Pancreas 19
1478 HYD021 Hydrocephalus Obesity Hypogonadism 18
1479 NRN033 Neuroendocrine Tumor of the Colon 18
1480 NRN044 Neuroendocrine Carcinoma of Pancreas 18
1481 c THY101 Thyroid Cancer, Nonmedullary, 5 18
1482 c TYP031 Type 1 Diabetes Mellitus 5 18
1483 PNC017 Pancreatic Serous Cystic Neoplasm 18
1484 OVR004 Ovary Neuroendocrine Neoplasm 18
1485 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 17
1486 c BLR016 Biliary Cirrhosis, Primary, 2 16
1487 c THY117 Thyroid Cancer, Nonmedullary, 3 16
1488 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1489 c DBT050 Diabetes Mellitus, Insulin-Dependent, 15 16
1490 6Q1002 6q16 Microdeletion Syndrome 16
1491 c DBT055 Diabetes Mellitus, Insulin-Dependent, 3 15
1492 c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 15
1493 P FML354 Familial Nonmedullary Thyroid Carcinoma 15
1494 c 46X050 46,xx Sex Reversal 3 15
1495 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
1496 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1497 LVR008 Liver Fibrosarcoma 14
1498 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 14
1499 THY092 Thymic Neuroendocrine Carcinoma 14
1500 c MYC054 Mycobacterium Tuberculosis 2 13
1501 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 12
1502 HYP852 Hypocalcemic Rickets 12
1503 OVR055 Ovarian Papillary Neoplasm 11
1504 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 11
1505 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 10
1506 c RRP004 Rare Primary Hyperaldosteronism 9
1507 THY012 Thymus Adenosquamous Carcinoma 9
1508 CHL043 Childhood Embryonal Testis Carcinoma 8
1509 PRP104 Prepubertal Anorexia Nervosa 8
1510 CLM001 Columnar Cell Variant Papillary Carcinoma 8
1511 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 8
1512 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
1513 c PRD042 Prader-Willi-Like Syndrome Due to a Point Mutation 8
1514 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1515 c RRD067 Rare Diabetes Mellitus 7
1516 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
1517 c RRV010 Rare Vascular Liver Disease 6
1518 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
1519 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1520 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 5
1521 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 5
1522 PNC037 Pancreatic Colloid Cystadenocarcinoma 5
1523 PNC029 Pancreatic Acth Hormone Producing Tumor 5
1524 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1525 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
1526 P RRD068 Rare Adrenal Disease 5
1527 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
1528 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
1529 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
1530 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 4
1531 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 4
1532 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 4
1533 c FRG006 Fragile X Syndrome Type 3 4
1534 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1535 GST109 Gastroenteric Neuroendocrine Neoplasm 3
1536 P RRG009 Rare Genetic Adrenal Disease 3
1537 P OVR042 Ovarian Cancer 89
1538 P NNN008 Noonan Syndrome 1 76
1539 c HYP836 Hypercholesterolemia, Familial, 1 72
1540 P PHC003 Pheochromocytoma 71
1541 c MLT156 Multiple Endocrine Neoplasia, Type I 71
1542 c HPT073 Hepatitis C Virus 70
1543 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
1544 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 67
1545 P HPT021 Hepatitis 67
1546 CHR103 Charge Syndrome 66
1547 MRK001 Merkel Cell Carcinoma 66
1548 TNG002 Tangier Disease 65
1549 P THY023 Thymoma 65
1550 CLR108 Colorectal Adenoma 64
1551 c GST103 Gastric Cancer, Hereditary Diffuse 64
1552 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63
1553 THY121 Thyroid Gland Anaplastic Carcinoma 63
1554 LRN002 Laron Syndrome 63
1555 P HYP069 Hyperparathyroidism 62
1556 c ALP101 Alpha-Thalassemia 62
1557 c ATM011 Autoimmune Hepatitis 62
1558 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 61
1559 P PRM006 Primary Biliary Cirrhosis 61
1560 P MCR256 Microphthalmia, Syndromic 9 61
1561 BRK001 Brooke-Spiegler Syndrome 60
1562 STF001 Stiff-Person Syndrome 60
1563 DBT084 Diabetes Mellitus, Ketosis-Prone 59
1564 P PRD006 Prader-Willi Syndrome 59
1565 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58
1566 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58
1567 ADR005 Adrenal Carcinoma 58
1568 c WLF013 Wolfram Syndrome 1 58
1569 ISL001 Islet Cell Tumor 56
1570 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 55
1571 c FML035 Familial Hyperlipidemia 55
1572 NRN004 Neuroendocrine Tumor 55
1573 P MLT074 Multiple Endocrine Neoplasia 55
1574 ISL014 Isolated Growth Hormone Deficiency, Type Ia 55
1575 END002 Endometrioid Ovary Carcinoma 55
1576 P PTT006 Pituitary Adenoma 54
1577 c BRD011 Bardet-Biedl Syndrome 10 54
1578 FRS002 Frasier Syndrome 53
1579 P MRN003 Marinesco-Sjogren Syndrome 52
1580 ISL003 Isolated Growth Hormone Deficiency 52
1581 OVR059 Ovary Adenocarcinoma 51
1582 SMT003 Somatostatinoma 51
1583 ADR049 Adrenal Hypoplasia, Congenital 51
1584 FML063 Familial Glucocorticoid Deficiency 51
1585 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
1586 P PNB001 Pineoblastoma 50
1587 LPR001 Lepromatous Leprosy 50
1588 P MYT002 Myotonic Dystrophy 49
1589 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 49
1590 ADR016 Adrenal Cortical Carcinoma 47
1591 CMP034 Complete Androgen Insensitivity Syndrome 47
1592 P HYP776 Hyperparathyroidism, Neonatal Severe 47
1593 WDM005 Wiedemann-Rautenstrauch Syndrome 47
1594 c PRM093 Premature Ovarian Failure 7 47
1595 HPT025 Hepatic Lipase Deficiency 46
1596 PGT003 Paget Disease, Extramammary 46
1597 c MCR261 Microphthalmia, Syndromic 2 45
1598 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 45
1599 APP009 Appendix Adenocarcinoma 44
1600 SCH071 Schaaf-Yang Syndrome 43
1601 c HMG003 Hemoglobin E Disease 43
1602 CHP002 Chops Syndrome 42
1603 c MCR241 Microphthalmia, Syndromic 3 42
1604 c TRN032 Transient Neonatal Diabetes Mellitus 42
1605 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 42
1606 c NPH102 Nephrotic Syndrome, Type 14 40
1607 APL017 Apolipoprotein C-Ii Deficiency 40
1608 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 40
1609 c CNG194 Congenital Disorder of Glycosylation, Type Ig 39
1610 PNC019 Pancreatoblastoma 39
1611 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
1612 PNC008 Pancreatic Endocrine Carcinoma 39
1613 ISL015 Isolated Growth Hormone Deficiency, Type Ib 39
1614 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 38
1615 OVR044 Ovarian Carcinosarcoma 38
1616 P PHS005 Peho Syndrome 38
1617 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 37
1618 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37
1619 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 37
1620 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 36
1621 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 35
1622 RCT005 Rectum Neuroendocrine Neoplasm 35
1623 HYP737 Hyperhidrosis, Gustatory 35
1624 P HPT020 Hepatic Vascular Disease 34
1625 c MCR251 Microphthalmia, Syndromic 6 33
1626 c CNG198 Congenital Disorder of Glycosylation, Type Il 33
1627 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1628 c NNN025 Noonan Syndrome 10 33
1629 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 33
1630 TST033 Testicular Regression Syndrome 33
1631 c MCR252 Microphthalmia, Syndromic 5 32
1632 PRM205 Primary Hepatic Neuroendocrine Carcinoma 31
1633 PLS002 Peliosis Hepatis 30
1634 c NNS018 Nonsyndromic Paraganglioma 30
1635 c PHL010 Peho-Like Syndrome 28
1636 MMS001 Momo Syndrome 28
1637 ENT006 Enterokinase Deficiency 28
1638 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 28
1639 PNC014 Pancreatic Serous Cystadenocarcinoma 27
1640 LVR014 Liver Sarcoma 27
1641 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 26
1642 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 26
1643 c INV003 Invasive Malignant Thymoma 26
1644 c PRX056 Peroxisome Biogenesis Disorder 11b 25
1645 c MCR262 Microphthalmia, Syndromic 4 25
1646 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
1647 c HYP860 Hypothyroidism, Congenital, Nongoitrous, 7 25
1648 DTH005 Diethylstilbestrol Syndrome 25
1649 c NPH070 Nephrotic Syndrome, Type 6 24
1650 c PNC132 Pancreatic Cancer 5 23
1651 GST035 Gestational Ovarian Choriocarcinoma 23
1652 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 23
1653 HYP344 Hyperthyroidism, Familial Gestational 23
1654 c MCR217 Microphthalmia, Syndromic 11 21
1655 c NPH104 Nephrotic Syndrome, Type 16 20
1656 c CRN298 Carney Complex, Type 2 19
1657 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 18
1658 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 18
1659 PRD001 Predominantly Cortical Thymoma 18
1660 LVR003 Liver Carcinoma in Situ 17
1661 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 17
1662 c INF190 Infantile Liver Failure Syndrome 3 16
1663 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
1664 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1665 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 13
1666 DGS008 Digestive System Melanoma 13
1667 c CMP100 Campomelic Dysplasia and Related Disorders 13
1668 P THY005 Thymus Large Cell Carcinoma 13
1669 c MRN006 Marinesco-Sjogren-Like Syndrome 9
1670 NRN043 Neuroendocrine Neoplasm of Esophagus 9
1671 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 8
1672 CHL026 Childhood Ovarian Embryonal Carcinoma 8
1673 HPT017 Hepatic Osteogenic Sarcoma 8
1674 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
1675 CHL048 Childhood Teratocarcinoma of the Testis 7
1676 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1677 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1678 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
1679 ADR007 Adrenoleukodystrophy 74
1680 VNH007 Von Hippel-Lindau Syndrome 73
1681 MCC012 Mccune-Albright Syndrome 70
1682 c MLT160 Multiple Endocrine Neoplasia, Type Iia 69
1683 c PNC108 Pancreatitis, Hereditary 69
1684 SMT004 Smith-Lemli-Opitz Syndrome 69
1685 c PRM196 Premature Ovarian Failure 1 68
1686 ABT001 Abetalipoproteinemia 67
1687 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
1688 AND002 Androgen Insensitivity Syndrome 66
1689 GLC006 Galactosemia 65
1690 DBT083 Diabetes Mellitus, Permanent Neonatal 64
1691 P DBT009 Diabetes Mellitus 64
1692 PTT048 Pituitary Adenoma, Prolactin-Secreting 64
1693 P CMP005 Campomelic Dysplasia 63
1694 HSH003 Hashimoto Thyroiditis 62
1695 INS001 Insulinoma 60
1696 APP015 Apparent Mineralocorticoid Excess 58
1697 c PRM005 Primary Hyperparathyroidism 58
1698 c RBN021 Rubinstein-Taybi Syndrome 1 56
1699 c THY109 Thyroid Cancer, Nonmedullary, 1 55
1700 SMT008 Smith-Magenis Syndrome 55
1701 P CLS054 Classic Ehlers-Danlos Syndrome 54
1702 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
1703 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 53
1704 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 52
1705 P MTH008 Methylmalonic Acidemia 51
1706 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 51
1707 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 50
1708 P 46X052 46,xx Sex Reversal 1 50
1709 c INF145 Infantile Liver Failure Syndrome 1 50
1710 c HYP243 Hyperparathyroidism 1 49
1711 c LPD021 Lipodystrophy, Familial Partial, Type 3 48
1712 c NPH049 Nephrotic Syndrome, Type 2 48
1713 GLC106 Glucocorticoid Resistance, Generalized 48
1714 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 47
1715 MHM001 Mehmo Syndrome 47
1716 OPS006 Opsoclonus-Myoclonus Syndrome 46
1717 SML031 Small Cell Carcinoma of the Bladder 46
1718 P HYP599 Hypoparathyroidism, Familial Isolated 45
1719 CLL036 Culler-Jones Syndrome 45
1720 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 45
1721 c BRD033 Bardet-Biedl Syndrome 13 44
1722 P DFF019 Diffuse Gastric Cancer 43
1723 c LPD019 Lipodystrophy, Partial, Acquired 43
1724 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1725 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
1726 c FML015 Familial Nephrotic Syndrome 41
1727 c BRD021 Bardet-Biedl Syndrome 9 40
1728 FML091 Familial Tumoral Calcinosis 40
1729 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 40
1730 c NNN021 Noonan Syndrome 8 40
1731 PRG008 Paragonimiasis 38
1732 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 38
1733 c CNG379 Congenital Disorder of Glycosylation, Type It 38
1734 GST004 Gastric Neuroendocrine Neoplasm 37
1735 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 36
1736 HYP249 Hyperthyroidism, Nonautoimmune 36
1737 c LSS037 Lissencephaly, X-Linked, 2 36
1738 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 35
1739 PNC104 Pancreatic and Cerebellar Agenesis 35
1740 c KNN009 Kenny-Caffey Syndrome, Type 1 35
1741 c FML353 Familial Ovarian Cancer 34
1742 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 34
1743 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 33
1744 c CNG188 Congenital Disorder of Glycosylation, Type if 31
1745 c KNN007 Kenny-Caffey Syndrome, Type 2 31
1746 KPP002 Keppen-Lubinsky Syndrome 30
1747 MLL011 Mullerian Aplasia and Hyperandrogenism 30
1748 THY064 Thyroid Hormone Metabolism, Abnormal 30
1749 c HYP708 Hyperaldosteronism, Familial, Type Iv 29
1750 IDP085 Idiopathic Infantile Hypercalcemia 29
1751 c SHR033 Short Qt Syndrome 3 28
1752 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 26
1753 c NPH073 Nephrotic Syndrome, Type 8 25
1754 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
1755 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1756 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
1757 c PRX068 Peroxisome Biogenesis Disorder 7b 24
1758 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 22
1759 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 22
1760 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1761 c NPH093 Nephrotic Syndrome, Type 13 20
1762 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 20
1763 MNT030 Mental Retardation Syndrome, Belgian Type 18
1764 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 17
1765 FNC065 Functioning Neuroendocrine Tumor of Pancreas 14
1766 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 11
1767 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 8
1768 P RBN007 Rubinstein Taybi Like Syndrome 8
1769 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 6
1770 P HPT023 Hepatocellular Carcinoma 100
1771 P PNC035 Pancreatic Cancer 84
1772 P LFR001 Li-Fraumeni Syndrome 72
1773 P NRB001 Neuroblastoma 71
1774 WLS001 Wilson Disease 70
1775 THY111 Thyroid Carcinoma, Familial Medullary 67
1776 CRN036 Craniopharyngioma 65
1777 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 64
1778 PLL001 Pallister-Hall Syndrome 64
1779 DGR001 Digeorge Syndrome 63
1780 KRN002 Kearns-Sayre Syndrome 63
1781 P NPH012 Nephrotic Syndrome 63
1782 c HPT003 Hepatitis a 63
1783 ALS001 Alstrom Syndrome 62
1784 c LPD015 Lipodystrophy, Familial Partial, Type 2 62
1785 HYP780 Hypoadrenocorticism, Familial 62
1786 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1787 PND002 Pendred Syndrome 60
1788 c HYP731 Hyperaldosteronism, Familial, Type I 60
1789 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 59
1790 FBR086 Fibrolamellar Carcinoma 59
1791 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
1792 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 58
1793 c PRG018 Paragangliomas 1 57
1794 c PRX059 Peroxisome Biogenesis Disorder 1a 57
1795 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 50
1796 GLY014 Glycerol Kinase Deficiency 49
1797 BRJ001 Borjeson-Forssman-Lehmann Syndrome 49
1798 c NRB010 Neuroblastoma 1 49
1799 c CNG389 Congenital Disorder of Glycosylation, Type Iim 46
1800 c CNG203 Congenital Disorder of Glycosylation, Type Iii 45
1801 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
1802 P LSS036 Lissencephaly, X-Linked, 1 44
1803 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 44
1804 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
1805 c LPD030 Lipodystrophy, Familial Partial, Type 5 43
1806 c CNG414 Congenital Disorder of Glycosylation, Type Iil 43
1807 c BRD044 Bardet-Biedl Syndrome 17 42
1808 c CRN243 Carney Complex, Type 1 42
1809 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
1810 c TYR011 Tyrosinemia, Type Iii 42
1811 c NNN009 Noonan Syndrome 2 40
1812 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 40
1813 c NPH054 Nephrotic Syndrome, Type 3 39
1814 c LPD040 Lipodystrophy, Familial Partial, Type 1 37
1815 c LPR022 Leprosy 2 37
1816 c PNC103 Pancreatic Cancer 4 36
1817 c ADL096 Adult Hepatocellular Carcinoma 35
1818 c PRX063 Peroxisome Biogenesis Disorder 2a 33
1819 c PRX055 Peroxisome Biogenesis Disorder 11a 33
1820 c NNN024 Noonan Syndrome 9 32
1821 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1822 c PRX060 Peroxisome Biogenesis Disorder 5a 32
1823 c HYP438 Hyperaldosteronism, Familial, Type Iii 32
1824 c PRX057 Peroxisome Biogenesis Disorder 4a 31
1825 c PRR020 Perrault Syndrome 1 30
1826 c PRX051 Peroxisome Biogenesis Disorder 6a 30
1827 c PNC111 Pancreatic Cancer 2 30
1828 c NRB014 Neuroblastoma 3 30
1829 c PRX050 Peroxisome Biogenesis Disorder 9b 30
1830 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1831 c PRX043 Peroxisome Biogenesis Disorder 6b 30
1832 c PRX054 Peroxisome Biogenesis Disorder 12a 29
1833 c PNC095 Pancreatic Cancer 3 28
1834 c PRX053 Peroxisome Biogenesis Disorder 14b 28
1835 c PRX048 Peroxisome Biogenesis Disorder 10a 28
1836 PTT047 Pituitary Hormone Deficiency, Combined, 3 28
1837 GRW003 Growth Hormone Insensitivity with Immunodeficiency 27
1838 c PRX046 Peroxisome Biogenesis Disorder 7a 27
1839 c NRB015 Neuroblastoma 2 27
1840 c PRX047 Peroxisome Biogenesis Disorder 5b 27
1841 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 26
1842 P VTM003 Vitamin Metabolic Disorder 26
1843 c PRX062 Peroxisome Biogenesis Disorder 8b 25
1844 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
1845 c PRX091 Peroxisome Biogenesis Disorder 8a 25
1846 c PRX052 Peroxisome Biogenesis Disorder 13a 25
1847 c PNC094 Pancreatic Cancer 1 24
1848 c ATM064 Autoimmune Pancreatitis Type 1 23
1849 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22
1850 c NPH108 Nephrotic Syndrome, Type 20 22
1851 MSC089 Mosaic Monosomy X 21
1852 c PSD047 Pseudo-Turner Syndrome 21
1853 c PRX089 Peroxisome Biogenesis Disorder 10b 21
1854 c NPH107 Nephrotic Syndrome, Type 19 21
1855 c NPH111 Nephrotic Syndrome, Type 21 19
1856 c PRR033 Perrault Syndrome 6 19
1857 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 18
1858 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 17
1859 c ATM063 Autoimmune Pancreatitis Type 2 17
1860 c NRB011 Neuroblastoma 4 16
1861 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1862 c NRB012 Neuroblastoma 5 16
1863 c NRB016 Neuroblastoma 7 15
1864 c NRB013 Neuroblastoma 6 14
1865 P LPR021 Leprosy 3 67
1866 PRT010 Parathyroid Carcinoma 66
1867 P BRD002 Bardet-Biedl Syndrome 66
1868 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 64
1869 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62
1870 BDD001 Budd-Chiari Syndrome 62
1871 P AXN002 Axenfeld-Rieger Syndrome 58
1872 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
1873 PSD014 Pseudopseudohypoparathyroidism 56
1874 P FML068 Familial Hypocalciuric Hypercalcemia 54
1875 c ATM024 Autoimmune Pancreatitis 53
1876 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
1877 c BRD012 Bardet-Biedl Syndrome 11 50
1878 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1879 P ACQ022 Acquired Generalized Lipodystrophy 47
1880 c BRD047 Bardet-Biedl Syndrome 16 44
1881 c CNG201 Congenital Disorder of Glycosylation, Type Iij 44
1882 c WLF009 Wolfram Syndrome 2 40
1883 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
1884 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1885 BCH003 Boucher-Neuhauser Syndrome 37
1886 c RBN008 Rubinstein-Taybi Syndrome 2 33
1887 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 32
1888 CHR506 Choroideremia, Deafness, and Mental Retardation 27
1889 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1890 P ATX030 Ataxia-Telangiectasia 83
1891 c TYR012 Tyrosinemia, Type I 67
1892 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66
1893 c MYT021 Myotonic Dystrophy 1 66
1894 c PSD108 Pseudohypoparathyroidism, Type Ia 66
1895 P FML052 Familial Cold Autoinflammatory Syndrome 59
1896 P TYR004 Tyrosinemia 58
1897 CHN016 Cohen Syndrome 57
1898 c FML116 Familial Cold Autoinflammatory Syndrome 1 55
1899 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 53
1900 c VRL010 Viral Hepatitis 51
1901 c CNG209 Congenital Disorder of Glycosylation, Type Iif 46
1902 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
1903 c FML253 Familial Cold Autoinflammatory Syndrome 3 45
1904 c CNG189 Congenital Disorder of Glycosylation, Type Ib 43
1905 c FML117 Familial Cold Autoinflammatory Syndrome 2 41
1906 GRD009 Gordon Holmes Syndrome 40
1907 TXC011 Toxocariasis 40
1908 c NNN012 Noonan Syndrome 5 39
1909 c BRD045 Bardet-Biedl Syndrome 19 38
1910 c BRD017 Bardet-Biedl Syndrome 5 37
1911 c NNN020 Noonan Syndrome 7 37
1912 c NNN013 Noonan Syndrome 6 35
1913 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1914 c PSD104 Pseudohypoparathyroidism, Type Ii 32
1915 c BRD050 Bardet-Biedl Syndrome 21 28
1916 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
1917 c LPR023 Leprosy 1 23
1918 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
1919 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58
1920 P SHR029 Short Syndrome 57
1921 P PSD015 Pseudohypoparathyroidism 56
1922 c NNN010 Noonan Syndrome 3 50
1923 c BRD015 Bardet-Biedl Syndrome 3 47
1924 c TYR013 Tyrosinemia, Type Ii 46
1925 c SRC023 Sarcoidosis 2 43
1926 c CNG498 Congenital Disorder of Glycosylation, Type Iin 43
1927 c BRD019 Bardet-Biedl Syndrome 7 42
1928 c ALG016 Alagille Syndrome 2 36
1929 c CNG196 Congenital Disorder of Glycosylation, Type Ic 35
1930 c CNG192 Congenital Disorder of Glycosylation, Type Ik 35
1931 c BRD010 Bardet-Biedl Syndrome 1 61
1932 P FML012 Familial Partial Lipodystrophy 55
1933 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
1934 ARM001 Aromatase Deficiency 53
1935 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1936 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 60
1937 c PSD066 Pseudohypoparathyroidism, Type Ib 52
1938 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
1939 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1940 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
1941 c CNG412 Congenital Disorder of Glycosylation, Type Ii 54
1942 c CNG206 Congenital Disorder of Glycosylation, Type Ie 47
1943 c CNG185 Congenital Disorder of Glycosylation, Type Iig 42
1944 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
1945 P DSR041 Disorder of Multiple Glycosylation 8
1946 c CNG208 Congenital Disorder of Glycosylation, Type Iic 48
1947 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1948 c CNG504 Congenital Disorder of Glycosylation, Type Iip 39
1949 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1950 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1951 c CNG388 Congenital Disorder of Glycosylation, Type Iw 29
1952 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50



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