Endocrine Diseases Category (1620 diseases)


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

# Family MCID Name MIFTS
1 P PHC003 Pheochromocytoma 71
2 PNC120 Pancreas, Dorsal, Agenesis of 28
3 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 31
4 PNC048 Pancreatic Lipase Deficiency 29
5 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
6 SLV025 Salivary Gland Adenoma, Pleomorphic 37
7 LCR011 Lacrimal Gland Carcinoma 26
8 SWT002 Sweat Gland Cancer 40
9 TRP008 Tropical Calcific Pancreatitis 46
10 ISL123 Isolated Growth Hormone Deficiency, Type Iv 26
11 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 31
12 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
13 SWT008 Sweat Gland Benign Neoplasm 32
14 3BT001 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 30
15 OST141 Osteoclastic Giant Cell Tumor of Pancreas 15
16 PRR005 Paraurethral Gland Cancer 10
17 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 41
18 SLV003 Salivary Gland Disease 41
19 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 17
20 c PNC106 Pancreatic Agenesis 1 51
21 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 40
22 c PRM093 Premature Ovarian Failure 7 47
23 c PRM094 Premature Ovarian Failure 5 24
24 c PRM091 Premature Ovarian Failure 2b 24
25 c PRM207 Premature Ovarian Failure 10 24
26 c PRM090 Premature Ovarian Failure 6 24
27 c PRM089 Premature Ovarian Failure 3 23
28 c PRM254 Premature Ovarian Failure 11 23
29 c PRM192 Premature Ovarian Failure 8 22
30 ISL124 Isolated Growth Hormone Deficiency, Type V 22
31 c PRM295 Premature Ovarian Failure 15 20
32 c PRM253 Premature Ovarian Failure 13 20
33 c PRM344 Premature Ovarian Failure 16 20
34 c PRM191 Premature Ovarian Failure 9 19
35 c PRM292 Premature Ovarian Failure 14 19
36 c PRM255 Premature Ovarian Failure 12 18
37 P PRM176 Premature Ovarian Failure 2a 18
38 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 17
39 c ACQ064 Acquired Premature Ovarian Failure 7
40 APL002 Aplasia of Lacrimal and Salivary Glands 57
41 BRT016 Bartholin's Gland Carcinoma 24
42 c PNC105 Pancreatic Agenesis 2 18
43 P LYD011 Leydig Cell Hypoplasia 34
44 MXD003 Mixed Lacrimal Gland Cancer 30
45 SBM004 Submandibular Gland Cancer 29
46 BRT045 Bartholin's Gland Benign Neoplasm 26
47 P GNR008 Generalized Resistance to Thyroid Hormone 25
48 SBC017 Sebaceous Gland Disease 40
49 HDR004 Hidradenoma 37
50 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 28
51 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 25
52 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 24
53 PTT043 Pituitary Hormone Deficiency, Combined, 6 21
54 SLL001 Sialolithiasis 35
55 P THY061 Thyroid Dyshormonogenesis 2a 29
56 XLN182 X-Linked Cerebral Adrenoleukodystrophy 13
57 SBL001 Sublingual Gland Cancer 9
58 LCR007 Lacrimal Gland Squamous Cell Carcinoma 8
59 ATM078 Autoimmune Addison Disease 29
60 MCC003 Mucocele of Salivary Gland 28
61 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 27
62 c ATM064 Autoimmune Pancreatitis Type 1 24
63 CNG298 Congenital Pancreatic Cyst 19
64 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 18
65 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 9
66 BRN010 Bronchial Mucus Gland Adenoma 6
67 PRR003 Paraurethral Gland Neoplasm 6
68 ULN003 Ulnar-Mammary Syndrome 57
69 PLM014 Pleomorphic Adenoma 52
70 SLD003 Sialadenitis 49
71 ADR022 Adrenomyeloneuropathy 38
72 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 34
73 SWT003 Sweat Gland Disease 34
74 c THY071 Thyroid Dyshormonogenesis 1 31
75 HLP031 Holoprosencephaly 12 with or Without Pancreatic Agenesis 21
76 ACC005 Accessory Pancreas 19
77 P PNB001 Pineoblastoma 50
78 GLN006 Glandular Cystitis 30
79 BRT012 Bartholin's Gland Adenoma 23
80 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 22
81 PRT100 Parotid Gland Adenoid Cystic Carcinoma 21
82 BRT014 Bartholin's Duct Cyst 21
83 c ADL025 Adult Pineoblastoma 20
84 VGN021 Vaginal Glandular Tumor 18
85 BRT060 Bartholin's Gland Disease 16
86 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 9
87 BRT010 Bartholin's Gland Transitional Cell Carcinoma 7
88 MNR001 Minor Vestibular Glands Adenoma 7
89 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
90 BRT009 Bartholin's Gland Adenomyoma 6
91 VLV037 Vulvar Glandular Tumor 5
92 P SPP010 Suppressor of Tumorigenicity 3 51
93 HLX001 Helix Syndrome 47
94 GRW007 Growth Hormone Deficiency 46
95 PNC056 Pineocytoma 45
96 c PRG020 Paragangliomas 3 39
97 ALD013 Aldosterone-Producing Adenoma 39
98 c PRG021 Paragangliomas 4 37
99 c SCN052 Secondary Adrenal Insufficiency 36
100 RRC013 Rare Carcinoma of Pancreas 31
101 c PRG019 Paragangliomas 2 31
102 ADR001 Adrenal Rest Tumor 30
103 c THY056 Thyroid Dyshormonogenesis 3 30
104 c NNS018 Nonsyndromic Paraganglioma 29
105 c PRG094 Paragangliomas 5 28
106 THY026 Thymus Gland Disease 28
107 c THY063 Thyroid Dyshormonogenesis 4 26
108 SBM003 Submandibular Gland Disease 24
109 APC009 Apocrine Gland Secretion, Variation in 24
110 c THY110 Thyroid Dyshormonogenesis 6 24
111 c SPP012 Suppressor of Tumorigenicity 11 22
112 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 21
113 c THY062 Thyroid Dyshormonogenesis 5 21
114 c PRG137 Paragangliomas 6 21
115 HYP705 Hyperadrenalism 20
116 ADN072 Adenoma of Pancreas 20
117 PRL002 Prolapse of Lacrimal Gland 18
118 c PRG138 Paragangliomas 7 18
119 c ATM063 Autoimmune Pancreatitis Type 2 17
120 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 17
121 SQM014 Squamous Cell Carcinoma of Pancreas 14
122 HYP746 Hypersecretion of Adrenal Androgens, Familial 12
123 THY053 Thyroid Hormone Plasma Membrane Transport Defect 11
124 PRP074 Peripheral Resistance to Thyroid Hormones 11
125 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 10
126 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
127 FLL045 Follicular Cholangitis and Pancreatitis 8
128 ANL002 Anal Gland Neoplasm 7
129 CHR002 Chronic Lacrimal Gland Enlargement 5
130 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
131 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 2
132 P MMP001 Mumps 58
133 CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38
134 MBM001 Meibomian Cyst 35
135 GLN002 Glanders 35
136 c PTT060 Pituitary Adenoma 5, Multiple Types 24
137 c CNG110 Congenital Mumps 7
138 P NTR004 Neutropenia 63
139 ADN018 Adenoma 59
140 c SVR003 Severe Congenital Neutropenia 59
141 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
142 MKL001 Mikulicz Disease 46
143 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 36
144 P HYP120 Hypoaldosteronism 36
145 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
146 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 35
147 LMB008 Limb-Mammary Syndrome 35
148 CYT014 Cytochrome P450 Oxidoreductase Deficiency 32
149 c SVR012 Severe Congenital Neutropenia Autosomal Dominant 28
150 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
151 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 26
152 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
153 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 25
154 CHL075 Cheilitis Glandularis 25
155 c NTR045 Neutropenia, Chronic Familial 22
156 PPL017 Papillary Hidradenoma 21
157 c FML275 Familial Hypoaldosteronism 19
158 c SVR103 Severe Congenital Neutropenia 1 19
159 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
160 GLN001 Glandular Tularemia 17
161 PNC049 Pancreatic Adenoma 17
162 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 14
163 c ACQ053 Acquired Neutropenia 14
164 c ELN001 Elane-Related Neutropenia 14
165 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 12
166 c ERL059 Early-Onset Familial Hypoaldosteronism 12
167 c LTN026 Late-Onset Familial Hypoaldosteronism 11
168 PNC055 Pancreatitis, Pediatric 11
169 c SLV006 Salivary Gland Cancer, Adult 9
170 CWP002 Cowper Gland Carcinoma 8
171 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
172 c RRH005 Rare Hypoaldosteronism 5
173 P DBT100 Diabetes Mellitus, Permanent Neonatal 1 59
174 MST005 Mastitis 53
175 P PRG013 Paraganglioma 52
176 P THY054 Thyrotoxic Periodic Paralysis 46
177 c DBT103 Diabetes Mellitus, Permanent Neonatal 4 46
178 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 45
179 PPL001 Papillary Adenoma 44
180 SBC009 Sebaceous Adenoma 35
181 c THY084 Thyrotoxic Periodic Paralysis 1 35
182 GGN002 Gigantism 33
183 ADN014 Adenomatoid Tumor 33
184 c THY083 Thyrotoxic Periodic Paralysis 2 31
185 ATM061 Autoimmune Polyglandular Syndrome Type 3 28
186 FXF002 Fox-Fordyce Disease 27
187 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 26
188 c PTT061 Pituitary Adenoma 3, Multiple Types 23
189 c PRS050 Prss1-Related Hereditary Pancreatitis 21
190 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 20
191 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 18
192 c DBT101 Diabetes Mellitus, Permanent Neonatal 2 17
193 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 17
194 TRY003 Trypsinogen Deficiency 17
195 GLC107 Glucocorticoid Deficiency 5 17
196 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 15
197 c DBT102 Diabetes Mellitus, Permanent Neonatal 3 14
198 PNL001 Pineal Gland Astrocytoma 14
199 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 14
200 IGG012 Igg4-Related Submandibular Gland Disease 14
201 URT019 Urethral Gland Abscess 12
202 c THY119 Thyrotoxic Periodic Paralysis 3 12
203 ECT097 Ectodermal Dysplasia with Adrenal Cyst 11
204 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 11
205 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 10
206 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 10
207 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 10
208 c ADR053 Adrenal Hypoplasia, Cytomegalic Type 10
209 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 10
210 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 9
211 PNC130 Pancreatic Agenesis-Holoprosencephaly Syndrome 9
212 FNC012 Functioning Pancreatic Endocrine Tumor 9
213 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
214 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
215 PNC125 Pancreatic Lymphoma, Familial 5
216 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
217 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
218 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
219 TMR021 Tumor of Endocrine Glands 4
220 GNT052 Genetic Pancreatic Disease 2
221 GNT093 Genetic Sebaceous Gland Anomaly 2
222 P NNN008 Noonan Syndrome 1 76
223 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
224 P HLP001 Holoprosencephaly 67
225 P MTR004 Maturity-Onset Diabetes of the Young 65
226 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62
227 P KLL001 Kallmann Syndrome 61
228 DBT087 Diabetes Insipidus, Neurohypophyseal 58
229 CHR072 Chordoma 58
230 P ACT010 Acth-Secreting Pituitary Adenoma 55
231 P HYP076 Hyperthyroidism 55
232 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 55
233 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 55
234 P STS003 Sitosterolemia 54
235 c HLP023 Holoprosencephaly 1 53
236 GTR002 Goiter 53
237 P THY032 Thyroiditis 52
238 P OVR049 Ovarian Disease 52
239 c PTT057 Pituitary Adenoma 4, Acth-Secreting 51
240 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
241 c HLP025 Holoprosencephaly 9 50
242 HYP080 Hypogonadism 50
243 c HLP024 Holoprosencephaly 2 49
244 GYN001 Gynecomastia 49
245 c NNN010 Noonan Syndrome 3 49
246 c 46X049 46,xy Sex Reversal 2 49
247 HYP043 Hyperandrogenism 48
248 c HLP026 Holoprosencephaly 3 48
249 THY128 Thyroid Tumor 47
250 NDL007 Nodular Goiter 47
251 c HLP016 Holoprosencephaly 11 47
252 c NNN013 Noonan Syndrome 6 45
253 c HLP028 Holoprosencephaly 5 45
254 P END084 Endocrine System Disease 45
255 c STS010 Sitosterolemia 1 44
256 c HLP029 Holoprosencephaly 4 44
257 DWR001 Dwarfism 44
258 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
259 OHD005 Ohdo Syndrome, Sbbys Variant 44
260 c NNN011 Noonan Syndrome 4 44
261 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 43
262 MYX004 Myxedema 43
263 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 43
264 P HRD018 Hair Disease 43
265 P MLT008 Multinodular Goiter 42
266 c NNN021 Noonan Syndrome 8 41
267 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
268 c 46X002 46 Xx Gonadal Dysgenesis 41
269 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
270 c HLP027 Holoprosencephaly 7 40
271 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40
272 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
273 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 39
274 PTT003 Pituitary-Dependent Cushing's Disease 39
275 c NNN009 Noonan Syndrome 2 39
276 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 39
277 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 39
278 ETH004 Euthyroid Sick Syndrome 38
279 c NNN012 Noonan Syndrome 5 37
280 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 37
281 HRM002 Hermaphroditism 36
282 c NNN020 Noonan Syndrome 7 36
283 HYP070 Hyperpituitarism 36
284 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 36
285 PLM011 Plummer's Disease 35
286 c CNT101 Central Congenital Hypothyroidism 35
287 P MXD016 Mixed Gonadal Dysgenesis 35
288 ADN064 Adenohypophysitis 35
289 MLR009 Miliaria 34
290 FML168 Familial Isolated Pituitary Adenoma 33
291 NNT003 Neonatal Thyrotoxicosis 33
292 c NNN024 Noonan Syndrome 9 33
293 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 33
294 NNT010 Nontoxic Goiter 32
295 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
296 c NNN025 Noonan Syndrome 10 32
297 P PLY188 Polyendocrinopathy 32
298 PST014 Postsurgical Hypothyroidism 32
299 THY001 Thyroid Crisis 31
300 PTT010 Pituitary Infarct 31
301 HYP029 Hyperthyroxinemia 31
302 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
303 c STS011 Sitosterolemia 2 30
304 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 29
305 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28
306 PTT016 Patterson Pseudoleprechaunism Syndrome 28
307 c ACT053 Acute Thyroiditis 27
308 PRM315 Permanent Congenital Hypothyroidism 27
309 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 27
310 SBS002 Substernal Goiter 27
311 c 46X048 46,xx Sex Reversal 2 27
312 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
313 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
314 c PRX066 Peroxisome Biogenesis Disorder 3b 26
315 IDN001 Iodine Hypothyroidism 26
316 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 25
317 GGN004 Gigantomastia 25
318 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 25
319 ENC002 Eunuchism 25
320 c ATM014 Autoimmune Disease of Endocrine System 25
321 GNT043 Genitopalatocardiac Syndrome 25
322 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
323 PNH005 Panhypopituitarism, X-Linked 25
324 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 24
325 c NNN034 Noonan Syndrome 12 24
326 c NNN029 Noonan Syndrome 11 24
327 c 46X058 46,xy Sex Reversal 10 24
328 TXC004 Toxic Diffuse Goiter 24
329 c 46X056 46,xy Sex Reversal 5 23
330 CHR620 Chromosome 16p11.2 Deletion Syndrome, 220-Kb 23
331 FRM001 Freemartinism 22
332 SPP005 Suppurative Thyroiditis 22
333 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 22
334 c 46X059 46,xx Sex Reversal 4 22
335 LNG018 Lingual Goiter 22
336 c HLP022 Holoprosencephaly 8 22
337 MDL001 Medulloadrenal Hyperfunction 22
338 c ATM066 Autoimmune Polyendocrinopathy Type 4 22
339 THY020 Thyroid Hyalinizing Trabecular Adenoma 21
340 c HYP857 Hypothyroidism, Congenital, Nongoitrous, 8 21
341 c OVR119 Ovarian Dysgenesis 7 21
342 c HLP021 Holoprosencephaly 6 21
343 THY021 Thyroid Malformation 21
344 DYS008 Dyshormonogenic Goiter 21
345 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 21
346 ATY007 Atypical Follicular Adenoma 20
347 PNH004 Panhypophysitis 20
348 BNG086 Bangstad Syndrome 20
349 PRP107 Peripheral Hypothyroidism 19
350 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 18
351 PRM331 Primary Hypophysitis 18
352 c 46X060 46,xx Disorder of Sex Development 18
353 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 18
354 c HRN019 Hair-an Syndrome 17
355 ABN002 Abnormality of Glucagon Secretion 17
356 c NNS019 Nonsyndromic Holoprosencephaly 16
357 RDL003 Riedel's Fibrosing Thyroiditis 15
358 PRT021 Parathyroid Transitional Clear Cell Adenoma 14
359 INH007 Inherited Thyroxine-Binding Globulin Deficiency 14
360 c GTR013 Goiter, Multinodular 2 14
361 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 14
362 GNT041 Genetic Lipodystrophy 13
363 c KLL005 Kallmann Syndrome 3 13
364 BMF002 Bamforth Syndrome 13
365 46X015 46,xy Ovotesticular Disorder of Sex Development 12
366 c GTR014 Goiter, Multinodular 3 12
367 HRD017 Hordeolum Externum 11
368 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 11
369 c RRH008 Rare Hyperthyroidism 11
370 IDP061 Idiopathic Congenital Hypothyroidism 10
371 NLL003 Null Pituitary Adenoma 10
372 INT222 Intermediate Dend Syndrome 10
373 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 10
374 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 10
375 c SCN039 Secondary Central Precocious Puberty 10
376 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 8
377 c KLL008 Kallmann Syndrome 6 8
378 MLT106 Multiple Paragangliomas Associated with Polycythemia 8
379 c KLL006 Kallmann Syndrome 4 8
380 IDN004 Iodine Antenatal Exposure 8
381 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 7
382 c KLL007 Kallmann Syndrome 5 7
383 PST024 Post-Surgical Hypoinsulinemia 6
384 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 6
385 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
386 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
387 c OVR071 Ovarian Insufficiency, Familial 5
388 NNC016 Non-Acquired Premature Ovarian Failure 5
389 THY002 Thyrocalcitonin Secretion Disease 4
390 DZX003 Diazoxide-Resistant Diffuse Hyperinsulinism 4
391 CNG594 Congenital Thyroid Malformation Without Hypothyroidism 4
392 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
393 MLT176 Multiple Polyglandular Tumor 3
394 PNL014 Pineal Gland Cancer 41
395 PRT009 Parotid Gland Cancer 36
396 ANL012 Anal Gland Adenocarcinoma 23
397 BRT015 Bartholin's Gland Adenocarcinoma 18
398 P MCK013 Meckel Syndrome, Type 1 65
399 P SLV026 Salivary Gland Carcinoma 57
400 c MCK032 Meckel Syndrome, Type 3 50
401 c MCK033 Meckel Syndrome, Type 4 47
402 c MCK031 Meckel Syndrome, Type 2 47
403 c MCK030 Meckel Syndrome, Type 7 47
404 c MCK014 Meckel Syndrome, Type 5 46
405 c MCK012 Meckel Syndrome, Type 6 45
406 c MCK034 Meckel Syndrome, Type 8 41
407 c MCK035 Meckel Syndrome, Type 10 27
408 c MCK028 Meckel Syndrome 13 25
409 c MCK026 Meckel Syndrome 12 24
410 c MCK036 Meckel Syndrome, Type 9 23
411 c MCK020 Meckel Syndrome, Type 11 22
412 APC004 Apocrine Adenocarcinoma 40
413 MTC096 Mitchell-Riley Syndrome 31
414 SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 13
415 c PNC111 Pancreatic Cancer 2 30
416 c PNC094 Pancreatic Cancer 1 28
417 ACN026 Acinar Cell Carcinoma of Pancreas 28
418 c PNC103 Pancreatic Cancer 4 28
419 c PNC095 Pancreatic Cancer 3 28
420 SBC011 Sebaceous Adenocarcinoma 42
421 ADN011 Adenoid Cystic Carcinoma 70
422 c PNC132 Pancreatic Cancer 5 22
423 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 33
424 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 25
425 LCR009 Lacrimal Gland Adenocarcinoma 22
426 MRT009 Martinez-Frias Syndrome 22
427 BRT007 Bartholin's Gland Squamous Cell Carcinoma 9
428 BRT003 Bartholin's Gland Small Cell Carcinoma 7
429 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
430 GST051 Gastrointestinal Tuberculosis 38
431 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
432 SBC018 Sebaceous Gland Neoplasm 32
433 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 29
434 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 17
435 RRT002 Rare Tumor of Pancreas 17
436 TNG006 Tunglang Savage Bellman Syndrome 13
437 SLV014 Salivary Gland Type Cancer of the Breast 8
438 CRC037 Carcinoma of Esophagus, Salivary Gland Type 7
439 RRP011 Rare Epithelial Tumor of Pancreas 6
440 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
441 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
442 c DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66
443 c THY102 Thyroid Cancer, Nonmedullary, 2 58
444 ECC002 Eccrine Acrospiroma 36
445 STR088 Stratton-Parker Syndrome 23
446 VST005 Vestibular Gland Benign Neoplasm 20
447 P HRD221 Hereditary Nephrogenic Diabetes Insipidus 17
448 LTT003 Littre Gland Carcinoma 5
449 P MLN007 Male Infertility 55
450 CYS014 Cystadenocarcinoma 51
451 MCP006 Mucoepidermoid Carcinoma 50
452 ADN009 Adenosquamous Carcinoma 47
453 MXD023 Mixed Cell Type Cancer 44
454 ANL011 Anal Canal Carcinoma 38
455 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 35
456 VRT016 Vertebral Anomalies and Variable Endocrine and T-Cell Dysfunction 34
457 ENT006 Enterokinase Deficiency 34
458 ECC001 Eccrine Papillary Adenocarcinoma 30
459 APC005 Apocrine Sweat Gland Neoplasm 29
460 ECC008 Eccrine Sweat Gland Neoplasm 28
461 ECC007 Eccrine Sweat Gland Cancer 23
462 ACN007 Acinar Cell Cystadenocarcinoma 20
463 c MLN078 Male Infertility Due to Acephalic Spermatozoa 18
464 c FML266 Female Infertility Due to Zona Pellucida Defect 17
465 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 14
466 c MLN081 Male Infertility Due to Sperm Motility Disorder 13
467 c RRM015 Rare Male Infertility 12
468 INT381 Intraductal Tubulopapillary Neoplasm of Pancreas 12
469 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
470 RRP030 Rare Pancreatic Disease 8
471 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
472 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
473 RRT012 Rare Tumor of Salivary Glands 7
474 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
475 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 6
476 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
477 P RRF012 Rare Female Infertility 6
478 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
479 FRS005 Fraser Jequier Chen Syndrome 6
480 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
481 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 6
482 c MLN082 Male Infertility Due to Sperm Disorder 6
483 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
484 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
485 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
486 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
487 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 5
488 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 5
489 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
490 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
491 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
492 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
493 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
494 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
495 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
496 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
497 P RRG009 Rare Genetic Adrenal Disease 3
498 c HMC039 Hemochromatosis, Type 1 74
499 P HYP086 Hypothyroidism 69
500 P HYP802 Hypocalcemia, Autosomal Dominant 1 69
501 c MYT021 Myotonic Dystrophy 1 69
502 HYP056 Hypoglycemia 66
503 c DBT099 Diabetes Mellitus, Type I 65
504 PRT036 Peritonitis 64
505 P DBT009 Diabetes Mellitus 64
506 P CMP005 Campomelic Dysplasia 64
507 ALS001 Alstrom Syndrome 64
508 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63
509 MNN042 Meningioma, Radiation-Induced 62
510 P NPH012 Nephrotic Syndrome 60
511 DBT084 Diabetes Mellitus, Ketosis-Prone 60
512 c ACT027 Acute Pancreatitis 60
513 c WLF013 Wolfram Syndrome 1 60
514 P WLF004 Wolfram Syndrome 60
515 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
516 THY029 Thyroid Carcinoma 59
517 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 59
518 c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 59
519 P VND007 Van Der Woude Syndrome 1 58
520 ALL001 Allan-Herndon-Dudley Syndrome 56
521 c GRV008 Graves Disease 1 56
522 c NPH055 Nephrotic Syndrome, Type 1 56
523 P GRV001 Graves' Disease 55
524 P DBT005 Diabetes Insipidus 55
525 HYP060 Hyperinsulinism 54
526 HYP732 Hyperalphalipoproteinemia 1 54
527 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 53
528 P HYP083 Hypopituitarism 53
529 c HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 53
530 CHN054 Chondrodysplasia, Blomstrand Type 52
531 JHN001 Johanson-Blizzard Syndrome 52
532 P HYP730 Hypogonadotropic Hypogonadism 52
533 THY030 Thyroid Gland Disease 52
534 FML026 Familial Lipoprotein Lipase Deficiency 51
535 c HMC021 Hemochromatosis, Type 2a 51
536 c HMC035 Hemochromatosis, Type 4 51
537 c SCN007 Secondary Hyperparathyroidism 51
538 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 51
539 PTT041 Pituitary Stalk Interruption Syndrome 50
540 c HMC009 Hemochromatosis Type 2 50
541 c HMC010 Hemochromatosis, Type 3 50
542 P NNT009 Neonatal Diabetes Mellitus 50
543 P MYT002 Myotonic Dystrophy 49
544 PRS129 Prostatic Hyperplasia, Benign 49
545 P BRS053 Breast Fibroadenoma 49
546 c HYP864 Hypoparathyroidism, Familial Isolated, 1 48
547 c NPH049 Nephrotic Syndrome, Type 2 48
548 P GND004 Gonadal Dysgenesis 48
549 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 48
550 P FML362 Familial Isolated Hypoparathyroidism 47
551 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 47
552 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 47
553 P PRC019 Precocious Puberty 46
554 c CNT075 Central Precocious Puberty 46
555 P ATM019 Autoimmune Polyendocrine Syndrome 46
556 PSD009 Pseudohermaphroditism 46
557 STT007 Steatocystoma Multiplex 46
558 ADR040 Adrenal Gland Pheochromocytoma 46
559 c NPH054 Nephrotic Syndrome, Type 3 45
560 GLC036 Glucagonoma 45
561 PRT030 Parathyroid Gland Disease 45
562 ADR012 Adrenal Gland Disease 45
563 PLR023 Polr3-Related Leukodystrophy 45
564 c NPH102 Nephrotic Syndrome, Type 14 44
565 SML028 Semilobar Holoprosencephaly 44
566 P HYP347 Hypotonia-Cystinuria Syndrome 43
567 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 42
568 P PRT026 Parotitis 42
569 ECT093 Ectopic Cushing Syndrome 42
570 EXC002 Exocrine Pancreatic Insufficiency 42
571 c HMC034 Hemochromatosis, Type 5 42
572 P ACT244 Acth-Independent Cushing Syndrome 42
573 THY009 Thyroid Lymphoma 42
574 c WLF009 Wolfram Syndrome 2 42
575 ALB014 Alobar Holoprosencephaly 42
576 c FML297 Familial Thyroid Dyshormonogenesis 41
577 c FML015 Familial Nephrotic Syndrome 41
578 P RRH023 Rare Hereditary Hemochromatosis 41
579 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 41
580 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 40
581 P GRW001 Growth Hormone Secreting Pituitary Adenoma 40
582 HYP085 Hypothalamic Disease 40
583 ISL114 Isolated Growth Hormone Deficiency, Type Ii 40
584 c NPH072 Nephrotic Syndrome, Type 7 40
585 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 40
586 ALC005 Alcoholic Pancreatitis 40
587 FLL031 Follicular Adenoma 39
588 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 39
589 c 46X079 46,xy Sex Reversal 11 39
590 HYP344 Hyperthyroidism, Familial Gestational 39
591 ACT245 Acth-Dependent Cushing Syndrome 39
592 c NPH076 Nephrotic Syndrome, Type 10 39
593 c MLG157 Malignant Pheochromocytoma 38
594 ADN075 Adenomyoma 38
595 HRT040 Hirata Disease 38
596 46X012 46,xy Partial Gonadal Dysgenesis 37
597 P OVR075 Ovarian Dysgenesis 1 37
598 P PNC045 Pancreatic Agenesis 37
599 P PHC019 Pheochromocytoma-Paraganglioma 36
600 ANR018 Anorchia 36
601 ADR009 Adrenal Cortex Disease 36
602 c HMC019 Hemochromatosis, Type 2b 36
603 c PRM340 Primary Adrenal Insufficiency 36
604 ATH010 Athyreosis 36
605 c NPH047 Nephrotic Syndrome, Type 4 34
606 MCH011 Meacham Syndrome 34
607 PTT001 Pituitary Hypoplasia 34
608 c 46X081 46,xx Sex Reversal 34
609 c CNG562 Congenital Hypogonadotropic Hypogonadism 34
610 GNT167 Genetic Obesity 33
611 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 33
612 ADR010 Adrenal Cortical Hypofunction 33
613 ACD001 Acidophil Adenoma 32
614 c HYP564 Hypocalcemia, Autosomal Dominant 2 32
615 c LCL022 Localized Lipodystrophy 32
616 c ATM068 Autoimmune Hypoparathyroidism 32
617 LYM043 Lymphocytic Hypophysitis 32
618 c PRM316 Primary Congenital Hypothyroidism 32
619 ADR057 Adrenogenital Syndrome 32
620 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 32
621 c RRD013 Rare Diabetes Mellitus Type 2 31
622 THY108 Thymic Neuroendocrine Tumor 31
623 HYP645 Hyperthyroxinemia, Dystransthyretinemic 31
624 c CNG608 Congenital Hypopituitarism 30
625 BRN137 Bronchial Neuroendocrine Tumor 30
626 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 30
627 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 29
628 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 29
629 c NPH096 Nephrotic Syndrome, Type 12 29
630 c OVR076 Ovarian Dysgenesis 2 29
631 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
632 c TYP028 Type 1 Diabetes Mellitus 2 28
633 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 28
634 IDP034 Idiopathic Central Precocious Puberty 28
635 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 28
636 c 46X017 46,xy Sex Reversal 6 28
637 MCR014 Microcystic Adenoma 27
638 SCN001 Secondary Hyperparathyroidism of Renal Origin 27
639 SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 27
640 c PRX058 Peroxisome Biogenesis Disorder 4b 27
641 c PRX047 Peroxisome Biogenesis Disorder 5b 27
642 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
643 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27
644 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 26
645 THY098 Thyroid Ectopia 26
646 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
647 THY004 Thyroid Angiosarcoma 26
648 PNL023 Penile Agenesis 25
649 CRT065 Cortisone Reductase Deficiency 1 25
650 c NPH073 Nephrotic Syndrome, Type 8 25
651 NNN001 Nonencapsulated Sclerosing Carcinoma 25
652 c 46X047 46,xy Sex Reversal 7 25
653 FTL062 Fetal Iodine Deficiency Disorder 25
654 c NPH095 Nephrotic Syndrome, Type 11 25
655 SBC005 Subacute Lymphocytic Thyroiditis 25
656 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
657 FNC050 Functioning Gonadotropic Adenoma 24
658 c VND004 Van Der Woude Syndrome 2 24
659 CRT066 Cortisone Reductase Deficiency 2 24
660 c NPH074 Nephrotic Syndrome, Type 9 24
661 c NPH105 Nephrotic Syndrome, Type 17 24
662 MTC025 Mitochondrial Myopathy with Diabetes 24
663 c NPH070 Nephrotic Syndrome, Type 6 24
664 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 24
665 c RRH009 Rare Hypothyroidism 24
666 c ATM067 Autoimmune Polyendocrinopathy Type 3 24
667 c NPH103 Nephrotic Syndrome, Type 15 24
668 c INS009 Insulin-Resistance Type B 24
669 c HYP819 Hyperlipoproteinemia, Type Id 23
670 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 23
671 END038 Endocrine Pancreas Disease 23
672 c TYP035 Type 1 Diabetes Mellitus 11 23
673 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 23
674 c OVR107 Ovarian Dysgenesis 4 23
675 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 23
676 c NPH108 Nephrotic Syndrome, Type 20 23
677 c PRC047 Precocious Puberty, Central, 1 23
678 P SYN140 Syndrome with 46,xy Disorder of Sex Development 23
679 c TRN047 Transient Congenital Hypothyroidism 23
680 c PRC046 Precocious Puberty, Central, 2 23
681 MXD014 Mixed Ductal-Endocrine Carcinoma 22
682 c TYP040 Type 1 Diabetes Mellitus 18 22
683 c OVR102 Ovarian Dysgenesis 3 22
684 c NPH106 Nephrotic Syndrome, Type 18 22
685 c HRD156 Hereditary Central Diabetes Insipidus 22
686 THY016 Thyroid Hurthle Cell Adenoma 22
687 CHF001 Chief Cell Adenoma 22
688 IGG015 Igg4-Related Thyroid Disease 21
689 c TYP029 Type 1 Diabetes Mellitus 3 21
690 c TYP027 Type 1 Diabetes Mellitus 10 21
691 NNF008 Non-Functioning Paraganglioma 21
692 c 46X046 46,xy Sex Reversal 4 21
693 c ACQ034 Acquired Central Diabetes Insipidus 21
694 c NPH107 Nephrotic Syndrome, Type 19 21
695 c NPH093 Nephrotic Syndrome, Type 13 20
696 FTL005 Fetal Adenoma 20
697 c TYP036 Type 1 Diabetes Mellitus 12 20
698 c OVR115 Ovarian Dysgenesis 5 20
699 c NPH104 Nephrotic Syndrome, Type 16 20
700 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 20
701 c TYP030 Type 1 Diabetes Mellitus 4 20
702 c NPH111 Nephrotic Syndrome, Type 21 20
703 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 20
704 c MLT120 Multiple Fibroadenomas of the Breast 20
705 DST011 Distal Chromosome 18q Deletion Syndrome 20
706 c TYP034 Type 1 Diabetes Mellitus 8 20
707 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 20
708 c TYP032 Type 1 Diabetes Mellitus 6 20
709 c TYP039 Type 1 Diabetes Mellitus 17 20
710 NNC019 Non-Acquired Panhypopituitarism 20
711 c OVR120 Ovarian Dysgenesis 8 20
712 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 19
713 P PRM210 Primary Lipodystrophy 19
714 SMT017 Somatomammotropinoma 18
715 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 18
716 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
717 CLL011 Colloid Adenoma 18
718 c OVR118 Ovarian Dysgenesis 6 18
719 c TYP031 Type 1 Diabetes Mellitus 5 18
720 c TYP033 Type 1 Diabetes Mellitus 7 18
721 GRF006 Grfoma 17
722 OBS060 Obesity Due to Sim1 Deficiency 17
723 c 46X050 46,xx Sex Reversal 3 17
724 LTN011 Late-Onset Isolated Acth Deficiency 17
725 MYP026 Myopathy - Thyrotoxic 17
726 c TYP037 Type 1 Diabetes Mellitus 13 17
727 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 16
728 BLT017 Bilateral Massive Adrenal Hemorrhage 16
729 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 16
730 c TYP038 Type 1 Diabetes Mellitus 15 16
731 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
732 c GRV009 Graves Disease 2 15
733 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15
734 c HYP867 Hypoparathyroidism, Familial Isolated, 2 15
735 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15
736 c TFR001 Tfr2-Related Hereditary Hemochromatosis 14
737 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 14
738 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
739 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
740 PDT046 Pediatric-Onset Graves Disease 14
741 PRM146 Primary Unilateral Adrenal Hyperplasia 13
742 XLN112 X-Linked Intellectual Disability, Cilliers Type 13
743 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 13
744 c 46X080 46,xx Sex Reversal 5 13
745 NRH002 Neurohypophysis Granular Cell Tumor 13
746 KLL013 Kallmann Syndrome-Heart Disease Syndrome 13
747 c CMP100 Campomelic Dysplasia and Related Disorders 12
748 BRS039 Breast Fibroadenosis 12
749 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 12
750 PPL010 Papillary Follicular Thyroid Adenocarcinoma 12
751 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 12
752 NRN032 Neuroendocrine Tumor of Anal Canal 12
753 c ATS423 Autosomal Dominant Wolfram Syndrome 12
754 c RRH011 Rare Hyperparathyroidism 12
755 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 11
756 PST112 Post-Traumatic Pituitary Deficiency 11
757 PTT069 Pituitary Deficiency Due to Rathke Cleft Cysts 11
758 PTT039 Pituitary Dermoid and Epidermoid Cysts 11
759 ECT055 Ectopic Aldosterone-Producing Tumor 11
760 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 11
761 c RRP004 Rare Primary Hyperaldosteronism 9
762 c RRD012 Rare Diabetes Mellitus Type 1 9
763 GNT039 Genetic Transient Congenital Hypothyroidism 8
764 PNC026 Pancreatic Mucinous Ductal Ectasia 8
765 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 8
766 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 8
767 SYN101 Syndromic Hypothyroidism 8
768 c PRT125 Parotitis, Juvenile Recurrent 7
769 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
770 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 7
771 c RRP025 Rare Precocious Puberty 7
772 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 7
773 c RRD067 Rare Diabetes Mellitus 7
774 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 6
775 c RRH010 Rare Hypoparathyroidism 6
776 GST003 Gastrin Secretion Abnormality 6
777 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 5
778 MKT001 Mikati-Najjar-Sahli Syndrome 5
779 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 5
780 MXD004 Mixed Eosinophil-Basophil Adenoma 5
781 DZX004 Diazoxide-Sensitive Diffuse Hyperinsulinism 5
782 DZX005 Diazoxide-Resistant Hyperinsulinism 5
783 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 5
784 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
785 ACQ065 Acquired Pituitary Hormone Deficiency 5
786 P RRN005 Rare Insulin-Resistance Syndrome 5
787 MXD018 Mixed Cell Type Adenoma of Parathyroid 4
788 PRT020 Parathyroid Oncocytic Adenoma 4
789 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
790 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
791 MXD048 Mixed Functioning Pituitary Adenoma 4
792 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
793 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
794 NNR001 Non-Renal Secondary Hyperparathyroidism 4
795 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
796 NNC017 Non-Acquired Pituitary Hormone Deficiency 4
797 c HYP232 Hypothyroidism Due to Iodide Transport Defect 4
798 c RRD014 Rare Adult Hypothyroidism 4
799 RRH007 Rare Hypolipidemia 4
800 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 3
801 RRH003 Rare Hypothalamic or Pituitary Disease 3
802 OBS083 Obesity Due to Congenital Leptin Resistance 3
803 RRP003 Rare Peripheral Precocious Puberty 3
804 RRS009 Rare Surgically Correctable Form of Primary Aldosteronism 3
805 RRN011 Rare Non Surgically Correctable Form of Primary Aldosteronism 3
806 P 46X065 46,xy Disorder of Gonadal Development 3
807 PTT066 Pituitary Hormone Deficiency of Meningeal Origin 3
808 DSS031 Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency 3
809 c ACQ068 Acquired Chronic Primary Adrenal Insufficiency 3
810 c GNT178 Genetic Chronic Primary Adrenal Insufficiency 3
811 HYP849 Hypogonadotropic Hypogonadism Associated with Other Endocrinopathies 3
812 OTH013 Other Rare Diabetes Mellitus 3
813 c 46X067 46,xx Disorder of Gonadal Development 3
814 RRD020 Rare Disease with Cushing Syndrome As a Major Feature 3
815 ADR058 Adrenal/paraganglial Tumor 3
816 NRN048 Neuroendocrine Tumor with Other Location 3
817 MLN047 Melanoma-Pancreatic Cancer Syndrome 29
818 IMM177 Immunodeficiency 54 29
819 c PRM196 Premature Ovarian Failure 1 67
820 c PRG018 Paragangliomas 1 58
821 c THY109 Thyroid Cancer, Nonmedullary, 1 55
822 ADR038 Adermatoglyphia 49
823 c THY101 Thyroid Cancer, Nonmedullary, 5 18
824 c THY100 Thyroid Cancer, Nonmedullary, 4 18
825 c THY117 Thyroid Cancer, Nonmedullary, 3 16
826 P FML354 Familial Nonmedullary Thyroid Carcinoma 15
827 IGG007 Igg4-Related Disease 47
828 WTK002 Witkop Syndrome 44
829 WBB001 Webb-Dattani Syndrome 23
830 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 18
831 P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90
832 P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81
833 c HYP836 Hypercholesterolemia, Familial, 1 73
834 P NRB001 Neuroblastoma 72
835 c MLT160 Multiple Endocrine Neoplasia, Type Iia 70
836 c CNG411 Congenital Disorder of Glycosylation, Type in 68
837 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 68
838 P SHW006 Shwachman-Diamond Syndrome 1 67
839 THY121 Thyroid Gland Anaplastic Carcinoma 66
840 c FML021 Familial Hypercholesterolemia 66
841 P BRD002 Bardet-Biedl Syndrome 66
842 TNG002 Tangier Disease 65
843 LYS012 Lysosomal Acid Lipase Deficiency 65
844 P ADN016 Adenocarcinoma 64
845 P HYP069 Hyperparathyroidism 63
846 c BRD010 Bardet-Biedl Syndrome 1 62
847 WST001 West Syndrome 61
848 P PNC044 Pancreatitis 61
849 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 60
850 CFF002 Coffin-Lowry Syndrome 60
851 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
852 P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 59
853 c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 59
854 PRC038 Precocious Puberty, Male-Limited 59
855 c PTT056 Pituitary Adenoma 1, Multiple Types 58
856 c PRM005 Primary Hyperparathyroidism 58
857 APP015 Apparent Mineralocorticoid Excess 58
858 THY122 Thyroid Gland Cancer 57
859 c CRP023 Carpenter Syndrome 1 57
860 c SML009 Small Intestine Adenocarcinoma 57
861 P PLY011 Polycystic Ovary Syndrome 56
862 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 56
863 P HYP024 Hypoparathyroidism 56
864 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
865 ZLL002 Zollinger-Ellison Syndrome 55
866 P PTT006 Pituitary Adenoma 55
867 CRC006 Carcinoid Syndrome 55
868 P HYP050 Hyperinsulinemic Hypoglycemia 55
869 HMZ003 Homozygous Familial Hypercholesterolemia 55
870 P CLS054 Classic Ehlers-Danlos Syndrome 54
871 ACD008 Acid-Labile Subunit Deficiency 54
872 PTT009 Pituitary Gland Disease 54
873 c BRD011 Bardet-Biedl Syndrome 10 53
874 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 52
875 c BRD014 Bardet-Biedl Syndrome 2 52
876 ACT238 Acth Deficiency, Isolated 52
877 c CNG189 Congenital Disorder of Glycosylation, Type Ib 52
878 DFF036 Differentiated Thyroid Carcinoma 52
879 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
880 c BRD012 Bardet-Biedl Syndrome 11 51
881 c HYP243 Hyperparathyroidism 1 51
882 c CNG191 Congenital Disorder of Glycosylation, Type Iia 51
883 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 51
884 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
885 c MLT086 Multiple Endocrine Neoplasia, Type Iv 51
886 PRT029 Parathyroid Adenoma 50
887 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 50
888 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 50
889 c BRD020 Bardet-Biedl Syndrome 8 50
890 P MTH008 Methylmalonic Acidemia 50
891 c BRD018 Bardet-Biedl Syndrome 6 49
892 c NRB010 Neuroblastoma 1 49
893 c HYP837 Hypercholesterolemia, Familial, 2 49
894 BRR012 Berardinelli-Seip Congenital Lipodystrophy 49
895 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
896 ADR016 Adrenal Cortical Carcinoma 48
897 c ACT150 Acute Adrenal Insufficiency 48
898 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 48
899 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 48
900 PNC034 Pancreas Disease 48
901 PTT004 Pituitary Apoplexy 48
902 c BRD015 Bardet-Biedl Syndrome 3 48
903 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 48
904 PNC013 Pancreatic Ductal Carcinoma 48
905 NNT017 Neonatal Adrenoleukodystrophy 47
906 MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47
907 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 47
908 NRN001 Neuroendocrine Carcinoma 47
909 c BRD032 Bardet-Biedl Syndrome 14 47
910 c 46X082 46,xy Sex Reversal 46
911 c CNG203 Congenital Disorder of Glycosylation, Type Iii 46
912 SHH001 Sheehan Syndrome 46
913 END031 Endometrial Stromal Sarcoma 46
914 c BRD047 Bardet-Biedl Syndrome 16 46
915 MLL011 Mullerian Aplasia and Hyperandrogenism 46
916 c BRD016 Bardet-Biedl Syndrome 4 46
917 GST030 Gastrinoma 45
918 c SBC007 Subacute Thyroiditis 45
919 c CNG199 Congenital Disorder of Glycosylation, Type Im 45
920 c HYP840 Hypercholesterolemia, Familial, 4 45
921 P DSR089 Disorders of Sexual Development 45
922 NLS001 Nelson Syndrome 45
923 c BRD013 Bardet-Biedl Syndrome 12 45
924 FSH001 Fish-Eye Disease 45
925 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
926 CRT039 Corticosterone Methyloxidase Type I Deficiency 45
927 P DFF019 Diffuse Gastric Cancer 45
928 P PSD003 Pseudohypoaldosteronism 44
929 IMM064 Immunodeficiency, Common Variable, 10 44
930 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
931 c HYP272 Hypercholesterolemia, Familial, 3 44
932 c 46X051 46,xy Sex Reversal 1 44
933 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
934 CRN055 Carney Triad 44
935 EMP001 Empty Sella Syndrome 44
936 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
937 c BRD033 Bardet-Biedl Syndrome 13 44
938 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 44
939 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
940 P HYP121 Hypoalphalipoproteinemia 43
941 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
942 c BRD019 Bardet-Biedl Syndrome 7 43
943 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 43
944 ADR041 Adrenal Cortical Adenoma 43
945 MRG013 Mirage Syndrome 43
946 TST015 Testicular Disease 43
947 c CNG198 Congenital Disorder of Glycosylation, Type Il 43
948 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
949 c HYP763 Hypogonadotropic Hypogonadism 23 Without Anosmia 43
950 LBR025 Lobar Holoprosencephaly 43
951 ECC004 Eccrine Porocarcinoma 43
952 PRS042 Prostate Disease 43
953 c LPD030 Lipodystrophy, Familial Partial, Type 5 43
954 c 46X030 46,xy Sex Reversal 9 42
955 TRP009 Triple X Syndrome 42
956 c BRD044 Bardet-Biedl Syndrome 17 42
957 PNC118 Pancreas, Annular 42
958 c ADN012 Adenocarcinoma in Situ 42
959 c CNG197 Congenital Disorder of Glycosylation, Type Ih 42
960 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 42
961 NNF007 Non-Functioning Pituitary Adenoma 42
962 c HYP841 Hypoalphalipoproteinemia, Primary, 1 41
963 c TRN032 Transient Neonatal Diabetes Mellitus 41
964 OST004 Osteitis Fibrosa 41
965 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 41
966 P PRR025 Perrault Syndrome 41
967 49X006 49, Xxxxy Syndrome 41
968 c CNG194 Congenital Disorder of Glycosylation, Type Ig 41
969 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
970 c 46X055 46,xy Sex Reversal 3 40
971 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 40
972 WDH003 Woodhouse-Sakati Syndrome 40
973 c BRD048 Bardet-Biedl Syndrome 18 40
974 c CNG195 Congenital Disorder of Glycosylation, Type Id 40
975 c PSD092 Pseudohypoaldosteronism, Type Iie 39
976 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
977 c BRD021 Bardet-Biedl Syndrome 9 39
978 c LPD034 Lipodystrophy, Familial Partial, Type 4 39
979 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 39
980 APL017 Apolipoprotein C-Ii Deficiency 38
981 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
982 c PLY105 Polycystic Ovary Syndrome 1 38
983 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
984 HYP835 Hypothalamic Obesity 38
985 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
986 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 38
987 THY124 Thyroid Gland Papillary Carcinoma 38
988 c BRD017 Bardet-Biedl Syndrome 5 38
989 NST002 Nestor-Guillermo Progeria Syndrome 38
990 c BRD045 Bardet-Biedl Syndrome 19 37
991 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 37
992 c BRD035 Bardet-Biedl Syndrome 15 37
993 PNC016 Pancreatic Cholera 37
994 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
995 TMP012 Temple Syndrome 37
996 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 37
997 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37
998 CHN064 Chondrodysplasia-Pseudohermaphroditism Syndrome 37
999 c CNG379 Congenital Disorder of Glycosylation, Type It 36
1000 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 36
1001 LPS020 Lipase Deficiency, Combined 36
1002 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 36
1003 c LYD012 Leydig Cell Hypoplasia, Type I 36
1004 DNC004 Diencephalic Syndrome 36
1005 P LRG016 Large Intestine Adenocarcinoma 36
1006 c LPD040 Lipodystrophy, Familial Partial, Type 1 35
1007 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 35
1008 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
1009 RCT005 Rectum Neuroendocrine Neoplasm 35
1010 OPT032 Optic Pathway Glioma 35
1011 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1012 c 46X057 46,xy Sex Reversal 8 35
1013 CHR034 Chromophobe Adenoma 34
1014 CHR525 Chromosome Xq26.3 Duplication Syndrome 34
1015 MLG048 Malignant Acrospiroma 34
1016 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
1017 EXT054 Extra-Adrenal Pheochromocytoma 34
1018 PNC027 Pancreatic Gastrinoma 34
1019 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
1020 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 33
1021 SPT016 Septopreoptic Holoprosencephaly 33
1022 c PRR020 Perrault Syndrome 1 32
1023 GBL002 Goblet Cell Carcinoid 32
1024 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1025 c CNG188 Congenital Disorder of Glycosylation, Type if 32
1026 HYP611 Hypoparathyroidism, X-Linked 32
1027 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 31
1028 48X003 48,xxyy Syndrome 31
1029 ADR023 Adrenomyodystrophy 31
1030 c PSD093 Pseudohypoaldosteronism, Type Iid 31
1031 c NRB015 Neuroblastoma 2 31
1032 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1033 CRT020 Cortisone Reductase Deficiency 31
1034 c CRP022 Carpenter Syndrome 2 31
1035 P HRD022 Hordeolum 31
1036 c NRB014 Neuroblastoma 3 30
1037 PRL010 Prolactin Producing Pituitary Tumor 30
1038 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1039 PPM002 Ppoma 29
1040 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
1041 ADR014 Adrenal Medulla Cancer 29
1042 c BRD050 Bardet-Biedl Syndrome 21 29
1043 THY039 Thyrotropin-Releasing Hormone Deficiency 28
1044 SYN116 Syndromic Obesity 28
1045 BSP001 Basophil Adenoma 28
1046 GRW026 Growth Hormone Insensitivity, Partial 28
1047 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 28
1048 DCR010 Dicer1 Tumor Predisposition 28
1049 UVP001 Uveoparotid Fever 27
1050 PTT044 Pituitary Hormone Deficiency, Combined, 4 27
1051 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
1052 c ACQ043 Acquired Lipodystrophy 27
1053 48X001 48, Xxxx 27
1054 GLC043 Glucocorticoid Deficiency 2 27
1055 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
1056 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
1057 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1058 PNC028 Pancreatic Steatorrhea 27
1059 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 27
1060 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 27
1061 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 27
1062 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
1063 FNC003 Functionless Pituitary Adenoma 26
1064 c PSD094 Pseudohypoaldosteronism, Type Iib 26
1065 c PSD068 Pseudohypoaldosteronism, Type Iic 26
1066 c DBT093 Diabetes Mellitus, Noninsulin-Dependent, 1 26
1067 c SHW007 Shwachman-Diamond Syndrome 2 26
1068 P TTR028 Tetraamelia Syndrome 1 25
1069 c TRN053 Transient Pseudohypoaldosteronism 25
1070 c PRX056 Peroxisome Biogenesis Disorder 11b 25
1071 LCT003 Lactocele 25
1072 c PRR024 Perrault Syndrome 3 25
1073 HYP693 Hyperparathyroidism, Primary, Caused by Water Clear Cell Hyperplasia 25
1074 c HYP720 Hyperparathyroidism 4 25
1075 DPL009 Duplication of the Pituitary Gland 24
1076 48X002 48,xxxy Syndrome 24
1077 c BRD051 Bardet-Biedl Syndrome 20 24
1078 PRD041 Periodic Fever, Menstrual Cycle-Dependent 24
1079 c PRR021 Perrault Syndrome 4 24
1080 PNC009 Pancreas Sarcoma 24
1081 ARD001 Aredyld 24
1082 c PRR022 Perrault Syndrome 2 24
1083 P VTM003 Vitamin Metabolic Disorder 24
1084 c PRR026 Perrault Syndrome 5 23
1085 c HYP311 Hyperparathyroidism 3 23
1086 DFN313 Deafness-Hypogonadism Syndrome 23
1087 PNC031 Pancreatic Foamy Gland Adenocarcinoma 23
1088 PLY115 Polyendocrine-Polyneuropathy Syndrome 23
1089 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 23
1090 P CYT020 Cytomegalic Congenital Adrenal Hypoplasia 23
1091 DDN028 Duodenal Neuroendocrine Tumor 22
1092 OBS067 Obesity Due to Melanocortin 4 Receptor Deficiency 22
1093 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
1094 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
1095 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 22
1096 CLL009 Colloid Carcinoma of the Pancreas 22
1097 END036 Endocrine Organ Benign Neoplasm 22
1098 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 22
1099 c TTR029 Tetraamelia Syndrome 2 21
1100 TTR018 Tetragametic Chimerism 21
1101 c CNG617 Congenital Disorder of Glycosylation, Type Iit 21
1102 PNC024 Pancreatic Colloid Cystadenoma 20
1103 c ATM050 Autoimmune Thyroid Disease 3 20
1104 THY106 Thyroglossal Duct Cyst, Familial 20
1105 c 46X011 46, Xy Disorders of Sexual Development 20
1106 c PRR033 Perrault Syndrome 6 19
1107 c HYP858 Hypothyroidism, Congenital, Nongoitrous, 9 19
1108 NRN006 Neuroendocrine Carcinoma of the Cervix 19
1109 c CHR695 Chronic Primary Adrenal Insufficiency 18
1110 c CNG615 Congenital Disorder of Glycosylation, Type Iir 18
1111 NNN035 Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome 18
1112 PNC017 Pancreatic Serous Cystic Neoplasm 17
1113 MYT025 Myotubular Myopathy with Abnormal Genital Development 17
1114 GND012 Gonadal Dysgenesis, Xy Type, with Associated Anomalies 17
1115 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 17
1116 THY126 Thyroid Gland Mucoepidermoid Carcinoma 17
1117 SLN005 Silent Pituitary Adenoma 17
1118 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
1119 c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 16
1120 P RSS029 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha 16
1121 GLL034 Gallbladder Neuroendocrine Tumor 16
1122 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
1123 c INT047 Internal Hordeolum 16
1124 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 16
1125 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1126 BSP005 Basophilic Adenocarcinoma 16
1127 c NRB012 Neuroblastoma 5 15
1128 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 15
1129 c NRB016 Neuroblastoma 7 15
1130 c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 15
1131 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 14
1132 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 14
1133 c NRB013 Neuroblastoma 6 14
1134 c NRB011 Neuroblastoma 4 14
1135 JJN009 Jejunal Neuroendocrine Tumor 14
1136 INF124 Infundibulo-Neurohypophysitis 13
1137 c ATM056 Autoimmune Thyroid Disease 1 13
1138 DGS008 Digestive System Melanoma 13
1139 c ATM057 Autoimmune Thyroid Disease 2 13
1140 XSM001 X Small Rings 12
1141 c DSR027 Disorders of Vitamin D Metabolism 12
1142 c DBT095 Diabetes Mellitus, Noninsulin-Dependent, 3 12
1143 SXC004 Sex Chromosome Disorder of Sex Development 12
1144 c RSS030 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta 12
1145 MLG159 Malignant Pediatric Adrenal Gland Pheochromocytoma 12
1146 HYP852 Hypocalcemic Rickets 12
1147 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 11
1148 c DBT097 Diabetes Mellitus, Noninsulin-Dependent, 4 11
1149 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 11
1150 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 10
1151 PNN006 Panniculitis-Induced Localized Lipodystrophy 10
1152 c ATM058 Autoimmune Thyroid Disease 4 10
1153 TRB001 Trabecular Follicular Adenocarcinoma 9
1154 NRN043 Neuroendocrine Neoplasm of Esophagus 9
1155 RRP032 Rare Parathyroid Tumor 8
1156 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 8
1157 RRD066 Rare Dyslipidemia 7
1158 P RRT025 Rare Thyroid Disease 7
1159 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 7
1160 CLS051 Classic Neuroendocrine Tumor of Appendix 6
1161 c RRD011 Rare Disorder with Hypogonadotropic Hypogonadism 6
1162 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 6
1163 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 6
1164 P DSR041 Disorder of Multiple Glycosylation 6
1165 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
1166 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 6
1167 PNC037 Pancreatic Colloid Cystadenocarcinoma 5
1168 ADR006 Adrenal Gland Ganglioneuroblastoma 5
1169 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1170 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 5
1171 P RRD068 Rare Adrenal Disease 5
1172 P RRH027 Rare Hypercholesterolemia 5
1173 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 4
1174 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
1175 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
1176 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 4
1177 NNC018 Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations 4
1178 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
1179 P SYC001 Say Carpenter Syndrome 4
1180 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
1181 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
1182 GNT051 Genetic Non-Syndromic Obesity 3
1183 PTT064 Pituitary Hormone Deficiency Secondary to Storage Disease 3
1184 PTT065 Pituitary Hormone Deficiency Secondary to a Granulomatous Disease 3
1185 PTT067 Pituitary Hormone Deficiency of Tumoral Origin 3
1186 RRS005 Rare Syndromic Dyslipidemia 3
1187 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 3
1188 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 3
1189 RRN018 Rare Endocrine Growth Disease 3
1190 DYS002 Dysplastic Nevus Syndrome 53
1191 P ATX030 Ataxia-Telangiectasia 82
1192 CNN003 Conn's Syndrome 79
1193 INS024 Insulin-Like Growth Factor I 79
1194 c BTT014 Beta-Thalassemia 74
1195 ACR007 Acromegaly 71
1196 P FRG001 Fragile X Syndrome 70
1197 SMT004 Smith-Lemli-Opitz Syndrome 70
1198 PNC129 Pancreatic Adenocarcinoma 68
1199 ADR054 Adrenocortical Carcinoma, Hereditary 66
1200 PND002 Pendred Syndrome 65
1201 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 65
1202 CHY002 Chylomicron Retention Disease 65
1203 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65
1204 PTT046 Pituitary Hormone Deficiency, Combined, 2 64
1205 BRK001 Brooke-Spiegler Syndrome 64
1206 CLR108 Colorectal Adenoma 64
1207 c CNG006 Congenital Hypothyroidism 64
1208 HYP020 Hyperprolactinemia 64
1209 P THR117 Three M Syndrome 1 63
1210 c ALP101 Alpha-Thalassemia 62
1211 P ECT006 Ectodermal Dysplasia 62
1212 LRN002 Laron Syndrome 62
1213 DNH001 Donohue Syndrome 62
1214 HSH003 Hashimoto Thyroiditis 62
1215 c PRX045 Peroxisome Biogenesis Disorder 1b 61
1216 PRG017 Paraganglioma and Gastric Stromal Sarcoma 61
1217 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 60
1218 INS001 Insulinoma 60
1219 STF001 Stiff-Person Syndrome 60
1220 P THL005 Thalassemia 60
1221 CRY035 Cryptorchidism, Unilateral or Bilateral 58
1222 c PRX059 Peroxisome Biogenesis Disorder 1a 56
1223 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
1224 c FML035 Familial Hyperlipidemia 55
1225 PSD021 Pseudovaginal Perineoscrotal Hypospadias 55
1226 SCH071 Schaaf-Yang Syndrome 54
1227 ADR049 Adrenal Hypoplasia, Congenital 54
1228 GLC042 Glucocorticoid Deficiency 1 53
1229 HYP741 Hyperparathyroidism 2 with Jaw Tumors 53
1230 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 53
1231 P HMG032 Hemoglobin H Disease 52
1232 PNC041 Pancreatic Ductal Adenocarcinoma 51
1233 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 50
1234 P PRS049 Persistent Mullerian Duct Syndrome 50
1235 THY125 Thyroid Gland Medullary Carcinoma 50
1236 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 49
1237 THY123 Thyroid Gland Follicular Carcinoma 48
1238 GLC106 Glucocorticoid Resistance, Generalized 48
1239 LPT006 Leptin Receptor Deficiency 48
1240 PRS127 Pearson Marrow-Pancreas Syndrome 47
1241 P HYP776 Hyperparathyroidism, Neonatal Severe 47
1242 HPT025 Hepatic Lipase Deficiency 47
1243 OPS006 Opsoclonus-Myoclonus Syndrome 47
1244 CMP034 Complete Androgen Insensitivity Syndrome 46
1245 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
1246 P LSS036 Lissencephaly, X-Linked, 1 45
1247 c HMG003 Hemoglobin E Disease 45
1248 c LPD019 Lipodystrophy, Partial, Acquired 45
1249 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 45
1250 DBT090 Diabetes and Deafness, Maternally Inherited 44
1251 TSH001 Tsh Producing Pituitary Tumor 44
1252 P PHS005 Peho Syndrome 44
1253 FNC007 Functioning Pituitary Adenoma 43
1254 ONC003 Oncogenic Osteomalacia 42
1255 LPP002 Lipoprotein Glomerulopathy 42
1256 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 42
1257 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 42
1258 c HNF003 Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease 41
1259 c HMG001 Hemoglobin C Disease 40
1260 PNC015 Pancreatic Acinar Cell Adenocarcinoma 39
1261 PNC008 Pancreatic Endocrine Carcinoma 39
1262 ADR004 Adrenal Cortical Adenocarcinoma 39
1263 c HMG029 Hemoglobin Se Disease 39
1264 CRT046 Corticosteroid-Binding Globulin Deficiency 38
1265 THY069 Thyroid Hormone Resistance, Selective Pituitary 38
1266 DBT092 Diabetes Insipidus, Nephrogenic, X-Linked 38
1267 HYP737 Hyperhidrosis, Gustatory 37
1268 HRM003 Hormone Producing Pituitary Cancer 37
1269 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 37
1270 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 37
1271 c PRX063 Peroxisome Biogenesis Disorder 2a 36
1272 c HYP647 Hypogonadotropic Hypogonadism 24 Without Anosmia 36
1273 HYP249 Hyperthyroidism, Nonautoimmune 36
1274 WTR001 Waterhouse-Friderichsen Syndrome 36
1275 c HMG004 Hemoglobin D Disease 36
1276 c PRX055 Peroxisome Biogenesis Disorder 11a 36
1277 c LSS037 Lissencephaly, X-Linked, 2 35
1278 c HYP438 Hyperaldosteronism, Familial, Type Iii 35
1279 c KNN009 Kenny-Caffey Syndrome, Type 1 34
1280 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 34
1281 c LPD036 Lipodystrophy, Familial Partial, Type 6 34
1282 c PRX060 Peroxisome Biogenesis Disorder 5a 34
1283 P CNT037 Central Nervous System Germinoma 33
1284 PNC039 Pancreatic Cystadenoma 33
1285 c PRX051 Peroxisome Biogenesis Disorder 6a 33
1286 PNC127 Pancreatic Adenosquamous Carcinoma 32
1287 c PRX054 Peroxisome Biogenesis Disorder 12a 32
1288 c KNN007 Kenny-Caffey Syndrome, Type 2 32
1289 c PRX057 Peroxisome Biogenesis Disorder 4a 31
1290 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 31
1291 PNC002 Pancreatic Mucinous Cystadenoma 31
1292 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 31
1293 PRM205 Primary Hepatic Neuroendocrine Carcinoma 31
1294 c PRX048 Peroxisome Biogenesis Disorder 10a 31
1295 KPP002 Keppen-Lubinsky Syndrome 31
1296 c PRX065 Peroxisome Biogenesis Disorder 3a 30
1297 P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 30
1298 c PRX050 Peroxisome Biogenesis Disorder 9b 30
1299 STY001 Satoyoshi Syndrome 30
1300 TMR001 Tumor of Exocrine Pancreas 30
1301 46X053 46,xy Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy 29
1302 c PRX046 Peroxisome Biogenesis Disorder 7a 29
1303 ISL125 Isolated Growth Hormone Deficiency Type Iii 29
1304 c THR069 Three M Syndrome 2 29
1305 c PRX043 Peroxisome Biogenesis Disorder 6b 29
1306 PNC006 Pancreatic Somatostatinoma 28
1307 c PHL010 Peho-Like Syndrome 28
1308 c PRX091 Peroxisome Biogenesis Disorder 8a 27
1309 c PRX052 Peroxisome Biogenesis Disorder 13a 27
1310 GRW023 Growth Hormone Deficiency, Isolated Partial 27
1311 c PRX053 Peroxisome Biogenesis Disorder 14b 27
1312 TLL001 Tall Cell Variant Papillary Carcinoma 27
1313 SML004 Small Intestine Neuroendocrine Neoplasm 27
1314 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 27
1315 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 26
1316 ADR003 Adrenal Neuroblastoma 26
1317 c ATS312 Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 26
1318 P PRX064 Peroxisome Biogenesis Disorder 2b 26
1319 FML211 Familial Papillary or Follicular Thyroid Carcinoma 26
1320 PGD001 Pagod Syndrome 26
1321 THY031 Thyroid Sarcoma 26
1322 KWR001 Kowarski Syndrome 25
1323 c PRX062 Peroxisome Biogenesis Disorder 8b 25
1324 HYP683 Hypogonadism-Cataract Syndrome 25
1325 PNC038 Pancreatic Cystadenocarcinoma 25
1326 PNC018 Pancreatic Serous Cystadenoma 24
1327 P KNN002 Kenny-Caffey Syndrome 24
1328 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1329 c PRX068 Peroxisome Biogenesis Disorder 7b 24
1330 ANS010 Anus Adenocarcinoma 24
1331 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
1332 URC004 Urachal Cancer 23
1333 c THR096 Three M Syndrome 3 23
1334 NNF001 Non-Functioning Pancreatic Endocrine Tumor 22
1335 THY127 Thyroid Gland Hurthle Cell Carcinoma 21
1336 MRB006 Morbid Obesity and Spermatogenic Failure 21
1337 c ATS310 Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 21
1338 DST037 Distal Monosomy 9p 20
1339 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 20
1340 c PRX089 Peroxisome Biogenesis Disorder 10b 20
1341 GRW032 Growth Factors, Combined Defect of 20
1342 NRN045 Neuroendocrine Neoplasm of Appendix 19
1343 c ECT114 Ectodermal Dysplasia 10b 18
1344 NRN033 Neuroendocrine Tumor of the Colon 18
1345 c ATS311 Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related 18
1346 MLT005 Multicentric Papillary Thyroid Carcinoma 17
1347 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 16
1348 6Q1002 6q16 Microdeletion Syndrome 16
1349 PST034 Posterior Pituitary Gland Neoplasm 14
1350 PNC126 Pancreatic Squamous Cell Carcinoma 14
1351 FNC065 Functioning Neuroendocrine Tumor of Pancreas 14
1352 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 14
1353 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 14
1354 THY092 Thymic Neuroendocrine Carcinoma 14
1355 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 13
1356 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 12
1357 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 11
1358 MDD017 Middle Ear Neuroendocrine Tumor 9
1359 PRP104 Prepubertal Anorexia Nervosa 8
1360 CLM001 Columnar Cell Variant Papillary Carcinoma 8
1361 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 8
1362 c ALP107 Alpha-Thalassemia and Related Diseases 7
1363 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 7
1364 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 7
1365 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
1366 P RRH006 Rare Hyperlipidemia 6
1367 PNC029 Pancreatic Acth Hormone Producing Tumor 6
1368 c ADL036 Adult Central Nervous System Germinoma 6
1369 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 6
1370 PNC040 Pancreatic Delta Cell Neoplasm 5
1371 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 5
1372 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 5
1373 c BTT015 Beta-Thalassemia and Related Diseases 5
1374 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
1375 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 5
1376 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 5
1377 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1378 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 4
1379 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
1380 c FRG004 Fragile X Syndrome Type 1 3
1381 c FRG005 Fragile X Syndrome Type 2 3
1382 c FRG006 Fragile X Syndrome Type 3 3
1383 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1384 GST109 Gastroenteric Neuroendocrine Neoplasm 3
1385 END035 Endocrine Gland Cancer 45
1386 ADR007 Adrenoleukodystrophy 75
1387 c MLT156 Multiple Endocrine Neoplasia, Type I 72
1388 c PNC108 Pancreatitis, Hereditary 70
1389 P MYC084 Mycobacterium Tuberculosis 1 68
1390 AND002 Androgen Insensitivity Syndrome 66
1391 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65
1392 MRK001 Merkel Cell Carcinoma 65
1393 PLL001 Pallister-Hall Syndrome 64
1394 SPT006 Septooptic Dysplasia 64
1395 c GST103 Gastric Cancer, Hereditary Diffuse 64
1396 c LPD015 Lipodystrophy, Familial Partial, Type 2 64
1397 CHN016 Cohen Syndrome 63
1398 P CRN038 Carney Complex Variant 61
1399 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61
1400 P FML052 Familial Cold Autoinflammatory Syndrome 58
1401 ADR005 Adrenal Carcinoma 58
1402 c RBN021 Rubinstein-Taybi Syndrome 1 57
1403 P MLT074 Multiple Endocrine Neoplasia 56
1404 c MCR256 Microphthalmia, Syndromic 9 56
1405 AND020 Androgen Insensitivity, Partial 56
1406 NRN004 Neuroendocrine Tumor 55
1407 ADR008 Adrenal Adenoma 55
1408 ISL014 Isolated Growth Hormone Deficiency, Type Ia 55
1409 c ATM024 Autoimmune Pancreatitis 55
1410 P MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
1411 c FML116 Familial Cold Autoinflammatory Syndrome 1 54
1412 c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 53
1413 c HYP740 Hyperlipoproteinemia, Type V 53
1414 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 52
1415 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 52
1416 c HYP843 Hypoalphalipoproteinemia, Primary, 2 52
1417 CLL036 Culler-Jones Syndrome 51
1418 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 51
1419 GRD009 Gordon Holmes Syndrome 51
1420 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50
1421 VPM001 Vipoma 50
1422 ISL003 Isolated Growth Hormone Deficiency 49
1423 GLY014 Glycerol Kinase Deficiency 49
1424 WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 49
1425 PTT008 Pituitary Carcinoma 48
1426 c FML253 Familial Cold Autoinflammatory Syndrome 3 47
1427 c LPD021 Lipodystrophy, Familial Partial, Type 3 47
1428 c MCR261 Microphthalmia, Syndromic 2 46
1429 c CRN243 Carney Complex, Type 1 43
1430 c MCR241 Microphthalmia, Syndromic 3 43
1431 c FML117 Familial Cold Autoinflammatory Syndrome 2 43
1432 OPS001 Opisthorchiasis 41
1433 EST007 Estrogen Resistance 41
1434 c MCR263 Microphthalmia, Syndromic 1 40
1435 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40
1436 BCH003 Boucher-Neuhauser Syndrome 40
1437 P FML156 Familial Hyperaldosteronism 39
1438 PNC019 Pancreatoblastoma 39
1439 HYP856 Hypothyroidism, Central, with Testicular Enlargement 39
1440 ARC025 Arachnoid Cysts, Intracranial 38
1441 PNC104 Pancreatic and Cerebellar Agenesis 37
1442 PRP098 Proprotein Convertase 1/3 Deficiency 37
1443 P SYN165 Syndromic Microphthalmia 35
1444 c MCR312 Microphthalmia, Syndromic 10 35
1445 c MCR251 Microphthalmia, Syndromic 6 35
1446 c MCR245 Microphthalmia, Syndromic 8 34
1447 c MCR252 Microphthalmia, Syndromic 5 34
1448 CYL004 Cylindromatosis, Familial 33
1449 PLS002 Peliosis Hepatis 33
1450 c HYP600 Hyperaldosteronism, Familial, Type Ii 32
1451 c HYP708 Hyperaldosteronism, Familial, Type Iv 30
1452 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 29
1453 c MCR212 Microphthalmia, Syndromic 12 28
1454 MMS001 Momo Syndrome 28
1455 ECC003 Eccrine Papillary Adenoma 28
1456 PTT047 Pituitary Hormone Deficiency, Combined, 3 28
1457 c HYP860 Hypothyroidism, Congenital, Nongoitrous, 7 27
1458 c MCR262 Microphthalmia, Syndromic 4 25
1459 LRY013 Laryngeal Neuroendocrine Tumor 25
1460 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 24
1461 c MCR228 Microphthalmia, Syndromic 13 24
1462 c FML270 Familial Cold Autoinflammatory Syndrome 4 23
1463 c MCR217 Microphthalmia, Syndromic 11 23
1464 ILL008 Ileal Neuroendocrine Tumor 22
1465 NRN047 Neuroendocrine Neoplasm of Pancreas 19
1466 HYD021 Hydrocephalus Obesity Hypogonadism 19
1467 PNC007 Pancreas Lymphoma 18
1468 MNT030 Mental Retardation Syndrome, Belgian Type 18
1469 NRN044 Neuroendocrine Carcinoma of Pancreas 18
1470 c CRN298 Carney Complex, Type 2 18
1471 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 17
1472 c MYC055 Mycobacterium Tuberculosis 3 14
1473 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 14
1474 c MYC054 Mycobacterium Tuberculosis 2 14
1475 P RBN007 Rubinstein Taybi Like Syndrome 7
1476 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 5
1477 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1478 P PNC035 Pancreatic Cancer 84
1479 SCK003 Sickle Cell Anemia 74
1480 VNH007 Von Hippel-Lindau Syndrome 73
1481 P HYP724 Hyperlipoproteinemia, Type Iii 73
1482 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
1483 ABT001 Abetalipoproteinemia 69
1484 CHR103 Charge Syndrome 67
1485 PRT010 Parathyroid Carcinoma 67
1486 CRN036 Craniopharyngioma 65
1487 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
1488 PTT048 Pituitary Adenoma, Prolactin-Secreting 65
1489 CRB011 Cerebrotendinous Xanthomatosis 65
1490 KRN002 Kearns-Sayre Syndrome 63
1491 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60
1492 FML063 Familial Glucocorticoid Deficiency 58
1493 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58
1494 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 57
1495 ISL001 Islet Cell Tumor 56
1496 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 56
1497 P FML012 Familial Partial Lipodystrophy 54
1498 SMT003 Somatostatinoma 52
1499 c HYP739 Hyperlipoproteinemia, Type Iv 50
1500 MRT007 Martsolf Syndrome 49
1501 INP001 Inappropriate Adh Syndrome 49
1502 WDM005 Wiedemann-Rautenstrauch Syndrome 49
1503 PGT003 Paget Disease, Extramammary 47
1504 ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 46
1505 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 45
1506 CHP002 Chops Syndrome 44
1507 APP009 Appendix Adenocarcinoma 44
1508 BSM002 Bosma Arhinia Microphthalmia Syndrome 41
1509 ISL015 Isolated Growth Hormone Deficiency, Type Ib 39
1510 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 39
1511 GST004 Gastric Neuroendocrine Neoplasm 37
1512 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 35
1513 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1514 FCL045 Focal Facial Dermal Dysplasia 3, Setleis Type 33
1515 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 32
1516 c PSD104 Pseudohypoparathyroidism, Type Ii 31
1517 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 30
1518 PNC014 Pancreatic Serous Cystadenocarcinoma 29
1519 THY064 Thyroid Hormone Metabolism, Abnormal 29
1520 IDP085 Idiopathic Infantile Hypercalcemia 28
1521 VNS015 Van Esch-O'driscoll Syndrome 26
1522 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1523 DTH005 Diethylstilbestrol Syndrome 25
1524 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1525 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
1526 MSC089 Mosaic Monosomy X 21
1527 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1528 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 21
1529 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 18
1530 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
1531 c HYP768 Hyperlipoproteinemia, Type I 67
1532 THY111 Thyroid Carcinoma, Familial Medullary 67
1533 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 66
1534 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 64
1535 HYP780 Hypoadrenocorticism, Familial 63
1536 c HYP731 Hyperaldosteronism, Familial, Type I 60
1537 P AXN002 Axenfeld-Rieger Syndrome 59
1538 P PRD006 Prader-Willi Syndrome 59
1539 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 59
1540 CLS005 Clouston Syndrome 58
1541 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58
1542 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57
1543 VTM027 Vitamin D-Dependent Rickets, Type 2a 56
1544 FRS002 Frasier Syndrome 55
1545 SMT008 Smith-Magenis Syndrome 54
1546 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 54
1547 P MRN003 Marinesco-Sjogren Syndrome 54
1548 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54
1549 c CNG012 Congenital Generalized Lipodystrophy 52
1550 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 52
1551 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51
1552 P 46X052 46,xx Sex Reversal 1 50
1553 c AXN009 Axenfeld-Rieger Syndrome, Type 1 49
1554 c AXN010 Axenfeld-Rieger Syndrome, Type 3 49
1555 ARM004 Aromatase Excess Syndrome 48
1556 P ACQ022 Acquired Generalized Lipodystrophy 47
1557 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
1558 SML031 Small Cell Carcinoma of the Bladder 46
1559 LRN001 Laurence-Moon Syndrome 45
1560 FML091 Familial Tumoral Calcinosis 44
1561 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
1562 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 36
1563 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 33
1564 c AXN012 Axenfeld-Rieger Syndrome, Type 2 32
1565 MNT300 Mental Retardation, X-Linked, with Panhypopituitarism 22
1566 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 22
1567 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 16
1568 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 15
1569 c MRN006 Marinesco-Sjogren-Like Syndrome 8
1570 LPT014 Leptin Deficiency or Dysfunction 74
1571 P SRC025 Sarcoidosis 1 70
1572 P TRN020 Turner Syndrome 67
1573 c PSD108 Pseudohypoparathyroidism, Type Ia 66
1574 P SHR029 Short Syndrome 63
1575 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61
1576 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 60
1577 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58
1578 DNY001 Denys-Drash Syndrome 57
1579 P PSD015 Pseudohypoparathyroidism 56
1580 PSD014 Pseudopseudohypoparathyroidism 55
1581 c PSD066 Pseudohypoparathyroidism, Type Ib 55
1582 c SHR030 Short Qt Syndrome 46
1583 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 45
1584 c SRC023 Sarcoidosis 2 43
1585 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 42
1586 c FML294 Familial Short Qt Syndrome 41
1587 P HRD086 Hereditary Hypophosphatemic Rickets 40
1588 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1589 IMM179 Immunodeficiency 31c 33
1590 c SHR032 Short Qt Syndrome 2 32
1591 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 29
1592 c SHR033 Short Qt Syndrome 3 29
1593 GRW003 Growth Hormone Insensitivity with Immunodeficiency 28
1594 c SHR031 Short Qt Syndrome 1 28
1595 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1596 CHR506 Choroideremia, Deafness, and Mental Retardation 27
1597 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 25
1598 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 25
1599 c PSD047 Pseudo-Turner Syndrome 21
1600 c SRC024 Sarcoidosis 3 20
1601 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17
1602 P LFR001 Li-Fraumeni Syndrome 72
1603 ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 66
1604 c MYT020 Myotonic Dystrophy 2 57
1605 P FML068 Familial Hypocalciuric Hypercalcemia 54
1606 MHM001 Mehmo Syndrome 47
1607 c LFR007 Li-Fraumeni Syndrome 2 45
1608 c RBN008 Rubinstein-Taybi Syndrome 2 36
1609 c LFR009 Li-Fraumeni Syndrome 1 26
1610 MCC012 Mccune-Albright Syndrome 70
1611 DGR001 Digeorge Syndrome 64
1612 ARM001 Aromatase Deficiency 54
1613 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1614 P GLC113 Galactosemia I 64
1615 c GLC112 Galactosemia Iii 56
1616 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
1617 BRJ001 Borjeson-Forssman-Lehmann Syndrome 49
1618 c GLC111 Galactosemia Ii 46
1619 c GLC115 Galactosemia Iv 20
1620 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 32



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