Endocrine Diseases Category (2122 diseases)


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

# Family MCID Name MIFTS
1 c PGM021 Pigmented Nodular Adrenocortical Disease, Primary, 1 28
2 PNC120 Pancreas, Dorsal, Agenesis of 27
3 PNC048 Pancreatic Lipase Deficiency 31
4 SLV025 Salivary Gland Adenoma, Pleomorphic 39
5 c PGM011 Pigmented Nodular Adrenocortical Disease, Primary, 2 27
6 SLV003 Salivary Gland Disease 42
7 LCR011 Lacrimal Gland Carcinoma 28
8 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 37
9 SLD003 Sialadenitis 49
10 UND013 Undifferentiated Carcinoma with Osteoclast-Like Giant Cells of Pancreas 20
11 TRP008 Tropical Calcific Pancreatitis 44
12 PTT071 Pituitary Hormone Deficiency, Combined or Isolated, 7 24
13 APL002 Aplasia of Lacrimal and Salivary Glands 59
14 SLL001 Sialolithiasis 38
15 MCC003 Mucocele of Salivary Gland 28
16 c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 25
17 PRR005 Paraurethral Gland Cancer 21
18 SWT008 Sweat Gland Benign Neoplasm 35
19 ACC005 Accessory Pancreas 27
20 ISL123 Isolated Growth Hormone Deficiency, Type Iv 28
21 c PGM012 Pigmented Nodular Adrenocortical Disease, Primary, 3 16
22 c PNC106 Pancreatic Agenesis 1 36
23 ANH004 Anhidrosis, Isolated, with Normal Sweat Glands 44
24 P GRW041 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive 31
25 MTR082 Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction 43
26 c PNC105 Pancreatic Agenesis 2 19
27 ENC043 Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 19
28 PTT070 Pituitary Hormone Deficiency, Combined or Isolated, 1 35
29 BRT045 Bartholin's Gland Benign Neoplasm 23
30 HDR004 Hidradenoma 33
31 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
32 BRT014 Bartholin's Duct Cyst 23
33 SBC017 Sebaceous Gland Disease 37
34 c ACR119 Acrodysostosis 2 with or Without Hormone Resistance 29
35 P THY129 Thyroid Hormone Metabolism, Abnormal, 1 26
36 SBL001 Sublingual Gland Cancer 24
37 c ATM064 Autoimmune Pancreatitis Type 1 22
38 CNG298 Congenital Pancreatic Cyst 21
39 LCR007 Lacrimal Gland Squamous Cell Carcinoma 13
40 NNC012 Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 11
41 ATM078 Autoimmune Addison Disease 23
42 MLG051 Malignant Glandular Tumor of Peripheral Nerve Sheath 19
43 SXH002 Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus 9
44 BRN010 Bronchial Mucus Gland Adenoma 6
45 PRR003 Paraurethral Gland Neoplasm 6
46 ULN003 Ulnar-Mammary Syndrome 58
47 PLM014 Pleomorphic Adenoma 52
48 PNC056 Pineocytoma 45
49 GLN002 Glanders 44
50 HLX001 Helix Syndrome 43
51 P ACR110 Acrodysostosis 1 with or Without Hormone Resistance 32
52 MTC096 Mitchell-Riley Syndrome 28
53 PTT043 Pituitary Hormone Deficiency, Combined, 6 20
54 ECC002 Eccrine Acrospiroma 34
55 SWT003 Sweat Gland Disease 34
56 GLN006 Glandular Cystitis 29
57 BRT012 Bartholin's Gland Adenoma 24
58 ADN072 Adenoma of Pancreas 19
59 c ATM063 Autoimmune Pancreatitis Type 2 18
60 SQM014 Squamous Cell Carcinoma of Pancreas 18
61 VGN021 Vaginal Glandular Tumor 15
62 BRT060 Bartholin's Gland Disease 15
63 FNC012 Functioning Pancreatic Endocrine Tumor 12
64 DWR020 Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 12
65 PRP074 Peripheral Resistance to Thyroid Hormones 11
66 FLL045 Follicular Cholangitis and Pancreatitis 9
67 THY118 Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 9
68 BRT006 Bartholin's Gland Adenosquamous Carcinoma 6
69 MNR001 Minor Vestibular Glands Adenoma 6
70 BRT009 Bartholin's Gland Adenomyoma 6
71 VLV037 Vulvar Glandular Tumor 5
72 MKL001 Mikulicz Disease 48
73 c NNS018 Nonsyndromic Paraganglioma 35
74 ADR001 Adrenal Rest Tumor 33
75 INT338 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency 29
76 c SCN052 Secondary Adrenal Insufficiency 26
77 THY026 Thymus Gland Disease 26
78 LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 25
79 SBM003 Submandibular Gland Disease 21
80 APC009 Apocrine Gland Secretion, Variation in 19
81 PRL002 Prolapse of Lacrimal Gland 17
82 PNC049 Pancreatic Adenoma 17
83 RRT002 Rare Tumor of Pancreas 15
84 CHR002 Chronic Lacrimal Gland Enlargement 12
85 THY053 Thyroid Hormone Plasma Membrane Transport Defect 12
86 STS005 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 9
87 RRC013 Rare Carcinoma of Pancreas 8
88 PNC054 Pancreatic Lipomatosis Duodenal Stenosis 4
89 ADN030 Adnexal Spiradenoma/cylindroma of a Sweat Gland 2
90 P PRG013 Paraganglioma 59
91 P ACT010 Acth-Secreting Pituitary Adenoma 48
92 c PTT057 Pituitary Adenoma 4, Acth-Secreting 47
93 CYT014 Cytochrome P450 Oxidoreductase Deficiency 41
94 MBM001 Meibomian Cyst 35
95 SYN046 Syndrome of Inappropriate Antidiuretic Hormone 28
96 CHL075 Cheilitis Glandularis 25
97 ATM061 Autoimmune Polyglandular Syndrome Type 3 21
98 c THY130 Thyroid Hormone Metabolism, Abnormal, 2 16
99 INT381 Intraductal Tubulopapillary Neoplasm of Pancreas 16
100 SBC022 Sebaceous Gland Hyperplasia, Familial Presenile 13
101 P NTR004 Neutropenia 61
102 c SVR003 Severe Congenital Neutropenia 58
103 MTP034 Metaphyseal Chondrodysplasia, Jansen Type 52
104 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
105 c SVR107 Severe Congenital Neutropenia 3 44
106 c SVR110 Severe Congenital Neutropenia 4 39
107 c SVR106 Severe Congenital Neutropenia 5 37
108 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
109 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
110 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 33
111 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
112 c SVR104 Severe Congenital Neutropenia 7 31
113 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
114 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
115 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
116 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
117 c SVR108 Severe Congenital Neutropenia 6 25
118 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
119 c NTR045 Neutropenia, Chronic Familial 22
120 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 22
121 c SVR103 Severe Congenital Neutropenia 1 20
122 PPL017 Papillary Hidradenoma 19
123 GLN001 Glandular Tularemia 18
124 c ACQ053 Acquired Neutropenia 17
125 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
126 c SVR105 Severe Congenital Neutropenia 2 16
127 c ELN001 Elane-Related Neutropenia 13
128 PRT122 Parotid Salivary Glands, Polycystic Dysgenetic Disease of 13
129 CWP002 Cowper Gland Carcinoma 7
130 c GRW043 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 5
131 c GRW044 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 5
132 LTT003 Littre Gland Carcinoma 5
133 P MLN007 Male Infertility 59
134 P ACN011 Acne 59
135 MST005 Mastitis 53
136 P SPP010 Suppressor of Tumorigenicity 3 50
137 PPL001 Papillary Adenoma 43
138 c PRS050 Prss1-Related Hereditary Pancreatitis 30
139 c MLN078 Male Infertility Due to Acephalic Spermatozoa 27
140 FXF002 Fox-Fordyce Disease 26
141 c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 26
142 ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 25
143 c FML266 Female Infertility Due to Zona Pellucida Defect 22
144 c SPP012 Suppressor of Tumorigenicity 11 19
145 GLC107 Glucocorticoid Deficiency 5 19
146 PHC017 Pheochromocytoma--Islet Cell Tumor Syndrome 18
147 TRY003 Trypsinogen Deficiency 18
148 IGG012 Igg4-Related Submandibular Gland Disease 18
149 PNC050 Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 17
150 NRN039 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 14
151 c FML343 Female Infertility Due to Oocyte Meiotic Arrest 13
152 URT019 Urethral Gland Abscess 12
153 ECT097 Ectodermal Dysplasia with Adrenal Cyst 12
154 HYP785 Hypohidrosis with Abnormal Palmar Dermal Ridges 12
155 PNC124 Pancreatitis, Sclerosing Cholangitis, and Sicca Complex 12
156 PNL001 Pineal Gland Astrocytoma 12
157 ADR055 Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 11
158 ANH005 Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands 11
159 c MLN085 Male Infertility Due to Obstructive Azoospermia 10
160 ADR050 Adrenocortical Hypofunction, Chronic Primary Congenital 10
161 c ACN029 Acne, Adult 10
162 ADR053 Adrenal Hypoplasia, Cytomegalic Type 9
163 NR0002 Nr0b1-Related Adrenal Hypoplasia Congenita 9
164 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
165 PRP035 Prop1-Related Combined Pituitary Hormone Deficiency 9
166 c MLN081 Male Infertility Due to Sperm Motility Disorder 9
167 RRP030 Rare Pancreatic Disease 8
168 BNG007 Benign Lymphoepithelial Lesion of Salivary Gland 7
169 c RRM013 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
170 PNC055 Pancreatitis, Pediatric 7
171 c RRM015 Rare Male Infertility 7
172 c RRF009 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder 7
173 c RRM010 Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
174 c MLN082 Male Infertility Due to Sperm Disorder 6
175 P RRF012 Rare Female Infertility 6
176 RRT012 Rare Tumor of Salivary Glands 6
177 c RRF006 Rare Female Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin 6
178 c CTS016 Catsper1-Related Nonsyndromic Male Infertility 5
179 PNC125 Pancreatic Lymphoma, Familial 5
180 c RRF008 Rare Female Infertility Due to a Congenital Hypogonadotropic Hypogonadism 5
181 c MLN083 Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder 5
182 c MLN086 Male Infertility Due to Gonadal Dysgenesis 5
183 c MLN080 Male Infertility Due to Obstructive Azoospermia of Genetic Origin 5
184 c RRF003 Rare Female Infertility Due to Gonadal Dysgenesis 4
185 c RRF010 Rare Female Infertility Due to an Anomaly of Ovarian Function 4
186 P RRG009 Rare Genetic Adrenal Disease 4
187 c RRM009 Rare Male Infertility Due to Adrenal Disorder of Genetic Origin 4
188 c RRM011 Rare Male Infertility Due to Testicular Endocrine Disorder 4
189 c RRF004 Rare Female Infertility Due to an Anomaly of Ovarian Function of Genetic Origin 4
190 c RRF002 Rare Female Infertility Due to an Implantation Defect 4
191 c RRF007 Rare Female Infertility Due to Oocyte Maturation Defect 4
192 c FML357 Female Infertility Due to an Implantation Defect of Genetic Origin 4
193 c SLV006 Salivary Gland Cancer, Adult 3
194 c RRF011 Rare Female Infertility Due to an Adrenal Disorder 3
195 c RRF005 Rare Female Infertility Due to Adrenal Disorder of Genetic Origin 3
196 TMR021 Tumor of Endocrine Glands 3
197 GNT052 Genetic Pancreatic Disease 2
198 GNT093 Genetic Sebaceous Gland Anomaly 2
199 c TYP009 Type 2 Diabetes Mellitus 91
200 CNN003 Conn's Syndrome 83
201 WLS001 Wilson Disease 72
202 ALP103 Alpha-1-Antitrypsin Deficiency 70
203 LYS012 Lysosomal Acid Lipase Deficiency 69
204 c MCL062 Mucolipidosis Ii Alpha/beta 69
205 ABT001 Abetalipoproteinemia 69
206 P HLP001 Holoprosencephaly 66
207 c MCL013 Mucolipidosis Iv 66
208 P CRG003 Crigler-Najjar Syndrome, Type I 65
209 c CNG012 Congenital Generalized Lipodystrophy 65
210 LSC001 Lesch-Nyhan Syndrome 64
211 KRN002 Kearns-Sayre Syndrome 63
212 HYP780 Hypoadrenocorticism, Familial 63
213 ARG002 Argininosuccinic Aciduria 62
214 P CRN038 Carney Complex Variant 62
215 P KLL001 Kallmann Syndrome 61
216 GLY010 Glycine Encephalopathy 61
217 P NPH012 Nephrotic Syndrome 61
218 P PRP029 Porphyria 60
219 c HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 60
220 c WLF013 Wolfram Syndrome 1 59
221 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 59
222 EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 57
223 P WLF004 Wolfram Syndrome 57
224 ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 57
225 c NPH055 Nephrotic Syndrome, Type 1 57
226 SMT008 Smith-Magenis Syndrome 57
227 c MCL046 Mucolipidosis Iii Alpha/beta 57
228 WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 56
229 STF001 Stiff-Person Syndrome 56
230 c HLP023 Holoprosencephaly 1 56
231 P STS003 Sitosterolemia 56
232 P THY032 Thyroiditis 55
233 HYP060 Hyperinsulinism 55
234 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 54
235 FML026 Familial Lipoprotein Lipase Deficiency 54
236 P GRV001 Graves' Disease 54
237 CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 53
238 P HYP076 Hyperthyroidism 53
239 c NPH049 Nephrotic Syndrome, Type 2 53
240 c ACT078 Acute Porphyria 52
241 ACD008 Acid-Labile Subunit Deficiency 52
242 c HLP026 Holoprosencephaly 3 52
243 P DSR090 Disorder of Sexual Development 52
244 GTR002 Goiter 51
245 HYP080 Hypogonadism 51
246 WDH003 Woodhouse-Sakati Syndrome 51
247 17B003 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency 51
248 c HLP025 Holoprosencephaly 9 50
249 HDR003 Hidradenitis 50
250 c NPH102 Nephrotic Syndrome, Type 14 50
251 P MCL001 Mucolipidosis 50
252 c SCN007 Secondary Hyperparathyroidism 50
253 c MCL016 Mucolipidosis Iii Gamma 49
254 IRN003 Iron Overload 49
255 HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 49
256 CNZ001 Coenzyme Q10 Deficiency Disease 48
257 THY128 Thyroid Tumor 48
258 c STS010 Sitosterolemia 1 48
259 P GND004 Gonadal Dysgenesis 48
260 P BRS053 Breast Fibroadenoma 48
261 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
262 LBR025 Lobar Holoprosencephaly 47
263 GYN001 Gynecomastia 47
264 c HLP027 Holoprosencephaly 7 47
265 c FML015 Familial Nephrotic Syndrome 47
266 HYP043 Hyperandrogenism 47
267 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
268 ANV001 Anovulation 46
269 CTN011 Cutaneous Porphyria 46
270 P OVR076 Ovarian Dysgenesis 2 46
271 c SBC007 Subacute Thyroiditis 46
272 c HLP016 Holoprosencephaly 11 45
273 PSD009 Pseudohermaphroditism 45
274 DBT090 Diabetes and Deafness, Maternally Inherited 45
275 NDL007 Nodular Goiter 45
276 c HLP029 Holoprosencephaly 4 44
277 c 46X030 46,xy Sex Reversal 9 44
278 c NPH072 Nephrotic Syndrome, Type 7 44
279 P END084 Endocrine System Disease 43
280 MYX004 Myxedema 43
281 DYS101 Dysgerminoma 43
282 c CRN243 Carney Complex, Type 1 42
283 c 46X079 46,xy Sex Reversal 11 42
284 c NPH054 Nephrotic Syndrome, Type 3 42
285 c NPH076 Nephrotic Syndrome, Type 10 42
286 c WLF009 Wolfram Syndrome 2 41
287 ETH004 Euthyroid Sick Syndrome 41
288 c HLP028 Holoprosencephaly 5 40
289 c OVR075 Ovarian Dysgenesis 1 40
290 P MLT008 Multinodular Goiter 40
291 P STR021 Struma Ovarii 39
292 CHL045 Choline Deficiency Disease 39
293 CLS049 Classic Phenylketonuria 39
294 c NPH047 Nephrotic Syndrome, Type 4 39
295 c HYP549 Hypogonadotropic Hypogonadism 5 with or Without Anosmia 39
296 c 46X002 46 Xx Gonadal Dysgenesis 38
297 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
298 c HLP024 Holoprosencephaly 2 37
299 c NPH117 Nephrotic Syndrome, Type 24 37
300 c NPH108 Nephrotic Syndrome, Type 20 37
301 c NPH074 Nephrotic Syndrome, Type 9 36
302 HRM002 Hermaphroditism 36
303 P MXD016 Mixed Gonadal Dysgenesis 35
304 MLR009 Miliaria 35
305 c HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 35
306 c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 34
307 c FML067 Familial Hyperthyroidism Due to Mutations in Tsh Receptor 34
308 PYR016 Pyridoxine Deficiency 34
309 PLM011 Plummer's Disease 34
310 HYP524 Hypoinsulinemic Hypoglycemia with Hemihypertrophy 34
311 ADN075 Adenomyoma 34
312 ISL161 Isolated Permanent Neonatal Diabetes Mellitus 34
313 c PRM368 Premature Ovarian Failure 19 33
314 PST014 Postsurgical Hypothyroidism 33
315 ATH010 Athyreosis 33
316 c 46X047 46,xy Sex Reversal 7 32
317 c TYP027 Type 1 Diabetes Mellitus 10 32
318 HYP070 Hyperpituitarism 32
319 c HYP565 Hypogonadotropic Hypogonadism 3 with or Without Anosmia 32
320 THY001 Thyroid Crisis 32
321 c NPH111 Nephrotic Syndrome, Type 21 31
322 HYP029 Hyperthyroxinemia 31
323 c NPH115 Nephrotic Syndrome, Type 23 31
324 c PRC047 Precocious Puberty, Central, 1 30
325 c HLP021 Holoprosencephaly 6 30
326 c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 30
327 PTT010 Pituitary Infarct 30
328 SPR068 Sporadic Pheochromocytoma/secreting Paraganglioma 30
329 SPP005 Suppurative Thyroiditis 29
330 OVR009 Ovarian Gonadoblastoma 29
331 c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29
332 NNT003 Neonatal Thyrotoxicosis 29
333 c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 28
334 c HYP817 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 28
335 OVR017 Ovarian Cystic Teratoma 28
336 c NPH103 Nephrotic Syndrome, Type 15 27
337 c ACT031 Acute Salpingo-Oophoritis 27
338 c ATM067 Autoimmune Polyendocrinopathy Type 3 27
339 c NPH114 Nephrotic Syndrome, Type 22 27
340 TXC004 Toxic Diffuse Goiter 27
341 c STS011 Sitosterolemia 2 27
342 c ACT053 Acute Thyroiditis 26
343 HYP490 Hyperinsulinism Due to Hnf1a Deficiency 26
344 c CNT101 Central Congenital Hypothyroidism 26
345 c NPH096 Nephrotic Syndrome, Type 12 26
346 c NPH073 Nephrotic Syndrome, Type 8 26
347 c NPH095 Nephrotic Syndrome, Type 11 26
348 c TYP030 Type 1 Diabetes Mellitus 4 26
349 PRD041 Periodic Fever, Menstrual Cycle-Dependent 25
350 SBS002 Substernal Goiter 25
351 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 25
352 c NPH105 Nephrotic Syndrome, Type 17 25
353 c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 25
354 MCR014 Microcystic Adenoma 25
355 c OVR107 Ovarian Dysgenesis 4 25
356 PTT016 Patterson Pseudoleprechaunism Syndrome 24
357 c NPH070 Nephrotic Syndrome, Type 6 24
358 ADN064 Adenohypophysitis 24
359 c NPH106 Nephrotic Syndrome, Type 18 24
360 c HYP857 Hypothyroidism, Congenital, Nongoitrous, 8 24
361 ENC002 Eunuchism 24
362 c 46X058 46,xy Sex Reversal 10 24
363 c PRM349 Premature Ovarian Failure 18 23
364 c ATM014 Autoimmune Disease of Endocrine System 23
365 c 46X011 46, Xy Disorders of Sexual Development 23
366 IDN001 Iodine Hypothyroidism 23
367 OVR001 Ovarian Stromal Hyperthecosis 23
368 DYS008 Dyshormonogenic Goiter 23
369 c NPH093 Nephrotic Syndrome, Type 13 22
370 c NPH107 Nephrotic Syndrome, Type 19 22
371 THY004 Thyroid Angiosarcoma 22
372 c 46X080 46,xx Sex Reversal 5 22
373 c OVR102 Ovarian Dysgenesis 3 22
374 LNG018 Lingual Goiter 22
375 c OVR119 Ovarian Dysgenesis 7 22
376 c HLP022 Holoprosencephaly 8 21
377 c NPH104 Nephrotic Syndrome, Type 16 21
378 c OVR127 Ovarian Dysgenesis 9 21
379 THY021 Thyroid Malformation 20
380 BNG086 Bangstad Syndrome 20
381 c OVR115 Ovarian Dysgenesis 5 20
382 P BRS100 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 20
383 GRN002 Granulomatous Orchitis 20
384 c HLP034 Holoprosencephaly 14 20
385 MDL001 Medulloadrenal Hyperfunction 20
386 c ACQ043 Acquired Lipodystrophy 19
387 c OVR120 Ovarian Dysgenesis 8 19
388 c MLT120 Multiple Fibroadenomas of the Breast 19
389 c NPH119 Nephrotic Syndrome, Type 26 19
390 c OVR118 Ovarian Dysgenesis 6 18
391 PRM331 Primary Hypophysitis 18
392 c 46X060 46,xx Disorder of Sex Development 18
393 FRM001 Freemartinism 18
394 c OVR128 Ovarian Dysgenesis 10 18
395 ABN002 Abnormality of Glucagon Secretion 18
396 HYP667 Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome 17
397 c NNS019 Nonsyndromic Holoprosencephaly 17
398 c CRN298 Carney Complex, Type 2 17
399 c KLL005 Kallmann Syndrome 3 17
400 c TYP040 Type 1 Diabetes Mellitus 18 17
401 c KLL007 Kallmann Syndrome 5 17
402 P OVR053 Ovarian Mucinous Adenofibroma 16
403 MCR279 Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome 16
404 XSM001 X Small Rings 16
405 c GTR013 Goiter, Multinodular 2 15
406 c GRV009 Graves Disease 2 15
407 GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 15
408 TRC120 Tricarboxylic Acid Cycle, Defect of 15
409 c KLL008 Kallmann Syndrome 6 15
410 PRT021 Parathyroid Transitional Clear Cell Adenoma 14
411 HYP660 Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome 14
412 INH007 Inherited Thyroxine-Binding Globulin Deficiency 14
413 HYP482 Hyperinsulinism Due to Ucp2 Deficiency 14
414 c GTR014 Goiter, Multinodular 3 14
415 P OVR045 Ovarian Clear Cell Adenofibroma 13
416 c KLL006 Kallmann Syndrome 4 13
417 CLR006 Clear Cell Cystadenofibroma 13
418 OLG024 Oligosaccharidosis 12
419 GNT039 Genetic Transient Congenital Hypothyroidism 12
420 IDP061 Idiopathic Congenital Hypothyroidism 12
421 HYP485 Hypercholesterolemia Due to Cholesterol 7alpha-Hydroxylase Deficiency 12
422 PNN006 Panniculitis-Induced Localized Lipodystrophy 11
423 c ATS423 Autosomal Dominant Wolfram Syndrome 10
424 PRM156 Primary Microcephaly-Epilepsy-Permanent Neonatal Diabetes Syndrome 10
425 c SCN039 Secondary Central Precocious Puberty 10
426 SHR095 Short Fifth Metacarpals-Insulin Resistance Syndrome 10
427 CRB213 Cerebral Organic Aciduria 9
428 TBR005 Tuberculous Oophoritis 9
429 MLT106 Multiple Paragangliomas Associated with Polycythemia 9
430 c RRH008 Rare Hyperthyroidism 8
431 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
432 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 8
433 c DSR045 Disorder of Protein N-Glycosylation 8
434 RDL003 Riedel's Fibrosing Thyroiditis 7
435 c 46X063 46,xy Disorder of Sex Development Due to Impaired Androgen Production 7
436 DZX004 Diazoxide-Sensitive Diffuse Hyperinsulinism 7
437 OVR032 Ovarian Surface Papilloma 6
438 PST024 Post-Surgical Hypoinsulinemia 6
439 HYP665 Hypogonadotropic Hypogonadism-Frontoparietal Alopecia Syndrome 6
440 c TRN076 Transient Congenital Hypothyroidism Due to Neonatal Factor 5
441 c TRN075 Transient Congenital Hypothyroidism Due to Maternal Factor 5
442 HYP675 Hypothalamic Adipsic Hypernatraemia Syndrome 5
443 OVR007 Ovarian Endometrioid Cystadenoma 5
444 c PRM366 Primary Ovarian Insufficiency 17 5
445 c PRM362 Primary Ovarian Insufficiency 13 5
446 DSR051 Disorder of Carbohydrate Absorption and Transport 4
447 DSR039 Disorder of Vitamin and Non-Protein Cofactor Absorption and Transport 4
448 MTC188 Mitochondrial Membrane Transport Disorder 4
449 P DSR042 Disorder of Protein O-Glycosylation 4
450 c PRM353 Primary Ovarian Insufficiency 4 4
451 c PRM352 Primary Ovarian Insufficiency 3 4
452 c PRM365 Primary Ovarian Insufficiency 16 4
453 c PRM364 Primary Ovarian Insufficiency 15 4
454 c PRM359 Primary Ovarian Insufficiency 10 4
455 c PRM360 Primary Ovarian Insufficiency 11 4
456 c PRM361 Primary Ovarian Insufficiency 12 4
457 c 46X062 46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect 4
458 c 46X074 46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect 4
459 CLS056 Classic Organic Aciduria 4
460 THY002 Thyrocalcitonin Secretion Disease 4
461 c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 3
462 c 46X067 46,xx Disorder of Gonadal Development 3
463 ADR054 Adrenocortical Carcinoma, Hereditary 45
464 PRT009 Parotid Gland Cancer 37
465 SWT002 Sweat Gland Cancer 41
466 c THY102 Thyroid Cancer, Nonmedullary, 2 58
467 c THY101 Thyroid Cancer, Nonmedullary, 5 19
468 c THY100 Thyroid Cancer, Nonmedullary, 4 18
469 c THY117 Thyroid Cancer, Nonmedullary, 3 14
470 P FML354 Familial Nonmedullary Thyroid Carcinoma 14
471 PNL014 Pineal Gland Cancer 40
472 P SLV026 Salivary Gland Carcinoma 50
473 ANL012 Anal Gland Adenocarcinoma 22
474 BRT015 Bartholin's Gland Adenocarcinoma 20
475 MXD003 Mixed Lacrimal Gland Cancer 31
476 SBM004 Submandibular Gland Cancer 24
477 APC004 Apocrine Adenocarcinoma 43
478 MLN047 Melanoma-Pancreatic Cancer Syndrome 31
479 BRT016 Bartholin's Gland Carcinoma 26
480 c PNC132 Pancreatic Cancer 5 24
481 SBC011 Sebaceous Adenocarcinoma 44
482 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 30
483 ACN026 Acinar Cell Carcinoma of Pancreas 29
484 c PNC094 Pancreatic Cancer 1 27
485 c PNC111 Pancreatic Cancer 2 25
486 c PNC103 Pancreatic Cancer 4 25
487 c PNC095 Pancreatic Cancer 3 22
488 P NPH007 Nephrogenic Diabetes Insipidus 61
489 LYM021 Lymphadenitis 57
490 c HRD221 Hereditary Nephrogenic Diabetes Insipidus 15
491 c GRW042 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 21
492 c PRG018 Paragangliomas 1 61
493 c PRG021 Paragangliomas 4 46
494 c PRG020 Paragangliomas 3 39
495 c PRG019 Paragangliomas 2 32
496 c PRG094 Paragangliomas 5 30
497 BRT008 Bartholin's Gland Adenoid Cystic Carcinoma 28
498 PRT100 Parotid Gland Adenoid Cystic Carcinoma 23
499 c PRG138 Paragangliomas 7 21
500 LCR009 Lacrimal Gland Adenocarcinoma 21
501 c PRG137 Paragangliomas 6 21
502 SLV014 Salivary Gland Type Cancer of the Breast 16
503 BRT010 Bartholin's Gland Transitional Cell Carcinoma 9
504 BRT007 Bartholin's Gland Squamous Cell Carcinoma 8
505 BRT003 Bartholin's Gland Small Cell Carcinoma 7
506 P PNB001 Pineoblastoma 53
507 MCP006 Mucoepidermoid Carcinoma 52
508 GST051 Gastrointestinal Tuberculosis 38
509 SBC018 Sebaceous Gland Neoplasm 34
510 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 21
511 c ADL025 Adult Pineoblastoma 19
512 HYP746 Hypersecretion of Adrenal Androgens, Familial 12
513 ANL002 Anal Gland Neoplasm 10
514 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
515 RRP011 Rare Epithelial Tumor of Pancreas 7
516 ADR038 Adermatoglyphia 52
517 MLG048 Malignant Acrospiroma 37
518 ADN018 Adenoma 59
519 SLV012 Salivary Gland Adenoid Cystic Carcinoma 51
520 SLV032 Salivary Gland Mucinous Adenocarcinoma 22
521 VST005 Vestibular Gland Benign Neoplasm 21
522 MRT009 Martinez-Frias Syndrome 20
523 HRN030 Hearing Loss-Familial Salivary Gland Insensitivity to Aldosterone Syndrome 10
524 MLG134 Malignant Epithelial Tumor of Salivary Glands 9
525 HYP848 Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome 9
526 P BNG096 Benign Exocrine Pancreas Neoplasm 5
527 ESP025 Esophagus Adenocarcinoma 63
528 CLS005 Clouston Syndrome 60
529 P ECT006 Ectodermal Dysplasia 56
530 ACN001 Acinar Cell Carcinoma 52
531 CYS014 Cystadenocarcinoma 50
532 c DBT108 Diabetes Insipidus, Nephrogenic, 2, Autosomal 49
533 MXD023 Mixed Cell Type Cancer 48
534 ADN009 Adenosquamous Carcinoma 46
535 P HYP347 Hypotonia-Cystinuria Syndrome 43
536 ANL011 Anal Canal Carcinoma 40
537 SBC009 Sebaceous Adenoma 35
538 ENT006 Enterokinase Deficiency 34
539 GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 33
540 APC005 Apocrine Sweat Gland Neoplasm 33
541 ADN014 Adenomatoid Tumor 31
542 c SVR109 Severe Congenital Neutropenia 8 28
543 ECC001 Eccrine Papillary Adenocarcinoma 26
544 c HYP867 Hypoparathyroidism, Familial Isolated, 2 23
545 ACN007 Acinar Cell Cystadenocarcinoma 21
546 c ECT114 Ectodermal Dysplasia 10b 20
547 c ECT117 Ectodermal Dysplasia 14 14
548 PLT032 Platelet Responsiveness to Adrenaline, Depressed 7
549 c HYP851 Hypotonia-Cystinuria Type 1 Syndrome 7
550 FRS005 Fraser Jequier Chen Syndrome 6
551 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
552 c RRM012 Rare Male Infertility Due to Adrenal Disorder 5
553 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
554 P OVR042 Ovarian Cancer 89
555 c TYP008 Type 1 Diabetes Mellitus 79
556 c PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 77
557 ADR007 Adrenoleukodystrophy 75
558 c MCP050 Mucopolysaccharidosis, Type Ii 74
559 P MYT021 Myotonic Dystrophy 1 74
560 c HYP836 Hypercholesterolemia, Familial, 1 72
561 P MTC003 Metachromatic Leukodystrophy 72
562 c FML021 Familial Hypercholesterolemia 69
563 P MPL001 Maple Syrup Urine Disease 69
564 P SHW006 Shwachman-Diamond Syndrome 1 68
565 P HYP086 Hypothyroidism 68
566 P HYP802 Hypocalcemia, Autosomal Dominant 1 68
567 P PRP003 Porphyria Cutanea Tarda 68
568 P BRD002 Bardet-Biedl Syndrome 67
569 PRT010 Parathyroid Carcinoma 67
570 P DBT009 Diabetes Mellitus 67
571 RCK004 Rickets 66
572 c BRD010 Bardet-Biedl Syndrome 1 65
573 P MTR004 Maturity-Onset Diabetes of the Young 65
574 c OVR114 Ovarian Cancer 1 65
575 c MLT159 Multiple Endocrine Neoplasia, Type Iib 64
576 P ADN016 Adenocarcinoma 64
577 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 64
578 CHN016 Cohen Syndrome 64
579 TNG002 Tangier Disease 64
580 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
581 c VTM027 Vitamin D-Dependent Rickets, Type 2a 61
582 DNH001 Donohue Syndrome 61
583 P HYP730 Hypogonadotropic Hypogonadism 60
584 c PRM093 Premature Ovarian Failure 7 59
585 c PRM196 Premature Ovarian Failure 1 59
586 CHR072 Chordoma 59
587 PRM013 Premature Menopause 59
588 c BRD012 Bardet-Biedl Syndrome 11 59
589 PYR041 Pyruvate Kinase Deficiency of Red Cells 58
590 c MYT020 Myotonic Dystrophy 2 57
591 NRN004 Neuroendocrine Tumor 56
592 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
593 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
594 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 56
595 KRT002 Keratomalacia 56
596 c BRD011 Bardet-Biedl Syndrome 10 55
597 HYP732 Hyperalphalipoproteinemia 1 55
598 P HYP050 Hyperinsulinemic Hypoglycemia 55
599 c HYP840 Hypercholesterolemia, Familial, 4 54
600 c FML035 Familial Hyperlipidemia 54
601 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
602 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
603 P NNT058 Neonatal Diabetes 53
604 LPT006 Leptin Receptor Deficiency 53
605 PTT009 Pituitary Gland Disease 53
606 HMZ003 Homozygous Familial Hypercholesterolemia 52
607 SCH071 Schaaf-Yang Syndrome 52
608 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
609 c LPD021 Lipodystrophy, Familial Partial, Type 3 52
610 HYP741 Hyperparathyroidism 2 with Jaw Tumors 51
611 c BRD013 Bardet-Biedl Syndrome 12 51
612 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
613 c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 50
614 c HYP837 Hypercholesterolemia, Familial, 2 50
615 c INH020 Inherited Metabolic Disorder 50
616 c TRN032 Transient Neonatal Diabetes Mellitus 50
617 c BRD016 Bardet-Biedl Syndrome 4 50
618 c BRD014 Bardet-Biedl Syndrome 2 50
619 c 46X049 46,xy Sex Reversal 2 49
620 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
621 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
622 c BRD018 Bardet-Biedl Syndrome 6 49
623 ADR041 Adrenal Cortical Adenoma 49
624 PRS129 Prostatic Hyperplasia, Benign 49
625 PTT041 Pituitary Stalk Interruption Syndrome 49
626 c BRD015 Bardet-Biedl Syndrome 3 49
627 c ATM092 Autoimmune Polyendocrine Syndrome, Type Ii 48
628 P HYP058 Hypervitaminosis a 48
629 c TYP031 Type 1 Diabetes Mellitus 5 48
630 CRT039 Corticosterone Methyloxidase Type I Deficiency 48
631 c ATM002 Autoimmune Polyendocrine Syndrome Type 1 47
632 INP001 Inappropriate Adh Syndrome 47
633 P MTC010 Mitochondrial Dna Depletion Syndrome 47
634 GTR011 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 47
635 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
636 GLC036 Glucagonoma 47
637 TST044 Testicular Torsion 47
638 PRT030 Parathyroid Gland Disease 46
639 c HYP243 Hyperparathyroidism 1 46
640 PNC034 Pancreas Disease 46
641 c TYP028 Type 1 Diabetes Mellitus 2 46
642 NLS001 Nelson Syndrome 46
643 MDL020 Midline Interhemispheric Variant of Holoprosencephaly 46
644 PTT003 Pituitary-Dependent Cushing's Disease 46
645 WRN003 Wernicke Encephalopathy 45
646 THY030 Thyroid Gland Disease 45
647 c BRD032 Bardet-Biedl Syndrome 14 45
648 HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 45
649 ECT093 Ectopic Cushing Syndrome 45
650 47X004 47 Xxx Syndrome 44
651 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
652 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
653 c LPD034 Lipodystrophy, Familial Partial, Type 4 44
654 c BRD019 Bardet-Biedl Syndrome 7 44
655 c BRD045 Bardet-Biedl Syndrome 19 44
656 ORC001 Orchitis 44
657 c BRD044 Bardet-Biedl Syndrome 17 43
658 EXC002 Exocrine Pancreatic Insufficiency 43
659 END011 Endometriosis of Ovary 43
660 FNC007 Functioning Pituitary Adenoma 43
661 c BRD017 Bardet-Biedl Syndrome 5 43
662 GRW007 Growth Hormone Deficiency 43
663 c BRD021 Bardet-Biedl Syndrome 9 43
664 c BRD033 Bardet-Biedl Syndrome 13 43
665 TST015 Testicular Disease 42
666 46X012 46,xy Partial Gonadal Dysgenesis 42
667 c ADN012 Adenocarcinoma in Situ 42
668 c HRD039 Hereditary Amyloidosis 42
669 c HYP272 Hypercholesterolemia, Familial, 3 42
670 c BRD048 Bardet-Biedl Syndrome 18 42
671 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
672 ACT257 Acute Necrotizing Pancreatitis 41
673 P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 41
674 P VTM036 Vitamin D-Dependent Rickets 41
675 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
676 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
677 HYP085 Hypothalamic Disease 40
678 c BRD020 Bardet-Biedl Syndrome 8 40
679 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
680 ADR040 Adrenal Gland Pheochromocytoma 40
681 END028 Endemic Goiter 40
682 P PRT026 Parotitis 40
683 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 40
684 CRT046 Corticosteroid-Binding Globulin Deficiency 40
685 EST004 Estrogen Excess 40
686 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
687 c FML353 Familial Ovarian Cancer 40
688 NRM018 Normosmic Congenital Hypogonadotropic Hypogonadism 39
689 c BRD047 Bardet-Biedl Syndrome 16 39
690 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
691 c HYP057 Hypervitaminosis D 39
692 c 46X017 46,xy Sex Reversal 6 38
693 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
694 NNT010 Nontoxic Goiter 38
695 OVR034 Ovarian Clear Cell Adenocarcinoma 38
696 BTT013 Beta-Thalassemia, Dominant Inclusion Body Type 38
697 WTR001 Waterhouse-Friderichsen Syndrome 37
698 c 45X001 45,x/46,xy Mixed Gonadal Dysgenesis 37
699 THY009 Thyroid Lymphoma 37
700 FLL031 Follicular Adenoma 37
701 ALC005 Alcoholic Pancreatitis 37
702 SPT016 Septopreoptic Holoprosencephaly 37
703 P DBT110 Diabetes Insipidus, Nephrogenic, 1, X-Linked 37
704 c PRT134 Proteasome-Associated Autoinflammatory Syndrome 3 36
705 c TYP036 Type 1 Diabetes Mellitus 12 36
706 c THY063 Thyroid Dyshormonogenesis 4 36
707 c BRD053 Bardet-Biedl Syndrome 22 36
708 c HYP552 Hypogonadotropic Hypogonadism 6 with or Without Anosmia 36
709 CHR387 Chromosome Xp21 Deletion Syndrome 36
710 c DBT064 Diabetes Mellitus, Transient Neonatal, 1 36
711 48X002 48,xxxy Syndrome 35
712 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35
713 c BRD035 Bardet-Biedl Syndrome 15 35
714 P HYP120 Hypoaldosteronism 35
715 c 46X081 46,xx Sex Reversal 35
716 DRM005 Dermoid Cyst of Ovary 34
717 LTM002 Luteoma 34
718 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
719 c PRC046 Precocious Puberty, Central, 2 33
720 CHR034 Chromophobe Adenoma 33
721 P ACT244 Acth-Independent Cushing Syndrome 33
722 ADR009 Adrenal Cortex Disease 33
723 c TYP034 Type 1 Diabetes Mellitus 8 33
724 c PTT061 Pituitary Adenoma 3, Multiple Types 32
725 c FML324 Familial Porphyria Cutanea Tarda 32
726 MMM007 Mammary Analogue Secretory Carcinoma 32
727 OVR041 Ovarian Benign Neoplasm 32
728 OVR048 Ovarian Cystadenoma 32
729 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
730 c HYP564 Hypocalcemia, Autosomal Dominant 2 32
731 ADR023 Adrenomyodystrophy 32
732 ADR010 Adrenal Cortical Hypofunction 32
733 c TYP055 Type 1 Diabetes Mellitus 22 32
734 c PRP091 Porphyria Cutanea Tarda, Type I 32
735 c ECT066 Ectodermal Dysplasia 9, Hair/nail Type 32
736 c TYP038 Type 1 Diabetes Mellitus 15 31
737 TST020 Testis Seminoma 31
738 CYS015 Cystadenofibroma 31
739 PTT044 Pituitary Hormone Deficiency, Combined, 4 31
740 c ECT065 Ectodermal Dysplasia 7, Hair/nail Type 31
741 c TYP054 Type 1 Diabetes Mellitus 21 31
742 PTT001 Pituitary Hypoplasia 31
743 c DRY002 Dry Beriberi 31
744 LCT003 Lactocele 30
745 EXT054 Extra-Adrenal Pheochromocytoma 30
746 ACD001 Acidophil Adenoma 30
747 FTL062 Fetal Iodine Deficiency Disorder 30
748 PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 30
749 c TYP032 Type 1 Diabetes Mellitus 6 30
750 P ACQ009 Acquired Metabolic Disease 30
751 HYP611 Hypoparathyroidism, X-Linked 30
752 P HRD022 Hordeolum 30
753 c BRD050 Bardet-Biedl Syndrome 21 29
754 c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 29
755 END015 Endometrial Adenosquamous Carcinoma 29
756 c MTC076 Metachromatic Leukodystrophy, Juvenile Form 29
757 c TYP056 Type 1 Diabetes Mellitus 23 29
758 PNC018 Pancreatic Serous Cystadenoma 29
759 OVR002 Ovarian Serous Cystadenofibroma 29
760 c ATM068 Autoimmune Hypoparathyroidism 29
761 c MTC075 Metachromatic Leukodystrophy, Late Infantile Form 29
762 OVR057 Ovarian Serous Adenofibroma 28
763 c XLN251 X-Linked Nephrogenic Diabetes Insipidus 28
764 c TYP053 Type 1 Diabetes Mellitus 20 28
765 c PRM192 Premature Ovarian Failure 8 28
766 c SHW007 Shwachman-Diamond Syndrome 2 28
767 c PRM090 Premature Ovarian Failure 6 28
768 c PRM089 Premature Ovarian Failure 3 28
769 c PRM094 Premature Ovarian Failure 5 28
770 P PRT259 Proteasome-Associated Autoinflammatory Syndrome 28
771 c TYP033 Type 1 Diabetes Mellitus 7 28
772 c PRM207 Premature Ovarian Failure 10 28
773 FML019 Familiar Ovarian Carcinoma 28
774 FNC050 Functioning Gonadotropic Adenoma 28
775 BRS039 Breast Fibroadenosis 27
776 c VTM035 Vitamin D-Dependent Rickets, Type 3 27
777 c 46X048 46,xx Sex Reversal 2 27
778 c CHR018 Chronic Salpingo-Oophoritis 27
779 c TYP035 Type 1 Diabetes Mellitus 11 27
780 c BRD051 Bardet-Biedl Syndrome 20 27
781 c ECT068 Ectodermal Dysplasia 6, Hair/nail Type 27
782 DSR031 Disorder of Copper Metabolism 27
783 ACT258 Acute Hemorrhagic Pancreatitis 27
784 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
785 c HYP557 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 26
786 c HYP443 Hypogonadotropic Hypogonadism 13 with or Without Anosmia 26
787 c THY062 Thyroid Dyshormonogenesis 5 26
788 c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26
789 c TYP029 Type 1 Diabetes Mellitus 3 26
790 c PRM091 Premature Ovarian Failure 2b 26
791 c PRM254 Premature Ovarian Failure 11 26
792 c ECT064 Ectodermal Dysplasia 5, Hair/nail Type 26
793 c 46X046 46,xy Sex Reversal 4 26
794 PGD001 Pagod Syndrome 26
795 c PRM253 Premature Ovarian Failure 13 26
796 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
797 c TYP057 Type 1 Diabetes Mellitus 24 25
798 THY098 Thyroid Ectopia 25
799 DPL009 Duplication of the Pituitary Gland 25
800 c HRD156 Hereditary Central Diabetes Insipidus 25
801 c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 25
802 LYS029 Lysosomal Disease 25
803 SBC005 Subacute Lymphocytic Thyroiditis 25
804 c PRT136 Proteasome-Associated Autoinflammatory Syndrome 2 25
805 END038 Endocrine Pancreas Disease 25
806 c DBT044 Diabetes Mellitus, Transient Neonatal, 3 24
807 ARD001 Aredyld 24
808 NNF001 Non-Functioning Pancreatic Endocrine Tumor 24
809 P PLY188 Polyendocrinopathy 24
810 P PHC019 Pheochromocytoma-Paraganglioma 24
811 c TYP039 Type 1 Diabetes Mellitus 17 24
812 c HYP762 Hypothyroidism, Congenital, Nongoitrous, 5 24
813 c ATM066 Autoimmune Polyendocrinopathy Type 4 24
814 c 46X059 46,xx Sex Reversal 4 24
815 c PRM292 Premature Ovarian Failure 14 24
816 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
817 c MTC074 Metachromatic Leukodystrophy, Adult Form 24
818 c CNG562 Congenital Hypogonadotropic Hypogonadism 23
819 c INS009 Insulin-Resistance Type B 23
820 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
821 c TYP052 Type 1 Diabetes Mellitus 19 23
822 DST037 Distal Monosomy 9p 23
823 c INT262 Intermediate Maple Syrup Urine Disease 23
824 c PRM191 Premature Ovarian Failure 9 23
825 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
826 c 46X056 46,xy Sex Reversal 5 23
827 c ACQ034 Acquired Central Diabetes Insipidus 23
828 MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 23
829 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
830 c PRT255 Proteasome-Associated Autoinflammatory Syndrome 4 23
831 P SLP004 Salpingo-Oophoritis 23
832 NRH002 Neurohypophysis Granular Cell Tumor 23
833 c TYP049 Type 2 Diabetes Mellitus 2 23
834 NNG002 Non-Gestational Ovarian Choriocarcinoma 23
835 ANT065 Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 22
836 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
837 P PRM176 Premature Ovarian Failure 2a 22
838 c BNG029 Benign Struma Ovarii 22
839 THY020 Thyroid Hyalinizing Trabecular Adenoma 22
840 MXD014 Mixed Ductal-Endocrine Carcinoma 22
841 OVR003 Ovarian Angiosarcoma 22
842 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
843 MCN010 Mucinous Cystadenofibroma 22
844 c TYP058 Type 2 Diabetes 5 22
845 c HYP858 Hypothyroidism, Congenital, Nongoitrous, 9 22
846 ACR079 Acrodysostosis with Multiple Hormone Resistance 21
847 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
848 CHF001 Chief Cell Adenoma 21
849 TTR018 Tetragametic Chimerism 21
850 c PRM255 Premature Ovarian Failure 12 21
851 CHL180 Childhood Ovarian Dysgerminoma 21
852 PNH004 Panhypophysitis 21
853 P RSS029 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Alpha 21
854 VNT040 Ventricular Arrhythmias Due to Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome 21
855 HYP685 Hypergonadotropic Hypogonadism and Partial Alopecia 21
856 c VTM037 Vitamin D-Dependent Rickets Type 2b 21
857 c INT047 Internal Hordeolum 21
858 NNF008 Non-Functioning Paraganglioma 21
859 CHL173 Childhood Ovarian Germ Cell Tumor 20
860 c CHR695 Chronic Primary Adrenal Insufficiency 20
861 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
862 OBS060 Obesity Due to Sim1 Deficiency 20
863 c PRM295 Premature Ovarian Failure 15 20
864 c ATM050 Autoimmune Thyroid Disease 3 20
865 BLT017 Bilateral Massive Adrenal Hemorrhage 20
866 c DBT098 Diabetes Mellitus, Transient Neonatal, 2 20
867 ISL139 Isolated Congenital Hypogonadotropic Hypogonadism 20
868 c PRM378 Premature Ovarian Failure 20 20
869 c 46X050 46,xx Sex Reversal 3 19
870 ACT245 Acth-Dependent Cushing Syndrome 19
871 GNT167 Genetic Obesity 19
872 LRN007 Laron Syndrome with Immunodeficiency 19
873 HYD021 Hydrocephalus Obesity Hypogonadism 19
874 c PRM316 Primary Congenital Hypothyroidism 19
875 46X015 46,xy Ovotesticular Disorder of Sex Development 19
876 c PRM348 Premature Ovarian Failure 17 19
877 GRF006 Grfoma 19
878 CLL011 Colloid Adenoma 18
879 ATY007 Atypical Follicular Adenoma 18
880 OVR037 Ovarian Solid Teratoma 18
881 LPS003 Liposarcoma of the Ovary 18
882 c PRM344 Premature Ovarian Failure 16 18
883 c TYP037 Type 1 Diabetes Mellitus 13 17
884 c TRN055 Turner Syndrome Due to Structural X Chromosome Anomalies 17
885 c TYP051 Type 2 Diabetes Mellitus 4 17
886 P OVR052 Ovarian Endometrioid Adenofibroma 17
887 OST061 Osteosclerosis with Ichthyosis and Premature Ovarian Failure 17
888 OVR008 Ovarian Mucinous Cystadenofibroma 17
889 LCT008 Lactate Dehydrogenase Deficiency 17
890 LTN011 Late-Onset Isolated Acth Deficiency 17
891 c PRT254 Proteasome-Associated Autoinflammatory Syndrome 5 17
892 c DBT013 Diabetes Mellitus, 6q24-Related Transient Neonatal 17
893 c PRM355 Primary Ovarian Insufficiency 6 16
894 c ACT247 Acth-Independent Macronodular Adrenal Hyperplasia 1 16
895 c TRN047 Transient Congenital Hypothyroidism 16
896 INT288 Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome 16
897 ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 16
898 c FML275 Familial Hypoaldosteronism 15
899 c TYP050 Type 2 Diabetes Mellitus 3 15
900 c MTC014 Mitochondrial Dna Deletion Syndromes 15
901 BSP005 Basophilic Adenocarcinoma 15
902 PRM146 Primary Unilateral Adrenal Hyperplasia 15
903 OVR038 Ovarian Fetiform Teratoma 15
904 PDT046 Pediatric-Onset Graves Disease 15
905 c ERL059 Early-Onset Familial Hypoaldosteronism 14
906 c LTN026 Late-Onset Familial Hypoaldosteronism 14
907 OVR016 Ovarian Endometrioid Stromal Sarcoma 14
908 PTT072 Pituitary Blastoma 14
909 c CNG263 Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs 14
910 c CNG543 Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies 14
911 TST019 Testis Sarcoma 14
912 c ATM056 Autoimmune Thyroid Disease 1 14
913 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 13
914 46X040 46,xx Disorder of Sex Development-Anorectal Anomalies Syndrome 13
915 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
916 SVR045 Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency 12
917 TRB001 Trabecular Follicular Adenocarcinoma 12
918 PTT038 Pituitary Deficiency Due to Empty Sella Turcica Syndrome 12
919 c ATM057 Autoimmune Thyroid Disease 2 12
920 DSR083 Disorder of Amino Acid Absorption and Transport 12
921 c RRH009 Rare Hypothyroidism 12
922 PTT069 Pituitary Deficiency Due to Rathke Cleft Cysts 12
923 PTT039 Pituitary Dermoid and Epidermoid Cysts 11
924 PST112 Post-Traumatic Pituitary Deficiency 11
925 DSR056 Disorder of Fructose Metabolism 11
926 P INB001 Inborn Amino Acid Metabolism Disorder 11
927 HYP625 Hyperandrogenism Due to Cortisone Reductase Deficiency 11
928 c ATM058 Autoimmune Thyroid Disease 4 11
929 HYP852 Hypocalcemic Rickets 11
930 INT222 Intermediate Dend Syndrome 10
931 NLL003 Null Pituitary Adenoma 10
932 OVR031 Ovarian Papillary Cystadenoma 10
933 PRP104 Prepubertal Anorexia Nervosa 9
934 DZX005 Diazoxide-Resistant Hyperinsulinism 8
935 GST003 Gastrin Secretion Abnormality 8
936 P RRT025 Rare Thyroid Disease 8
937 MLG017 Malignant Tumor of Undescended Testis 8
938 c CNG591 Congenital Hypothyroidism Due to Developmental Anomaly 8
939 IDN004 Iodine Antenatal Exposure 7
940 P PRX076 Peroxisomal Beta-Oxidation Disorder 7
941 CLS051 Classic Neuroendocrine Tumor of Appendix 7
942 c RRD067 Rare Diabetes Mellitus 7
943 ACQ065 Acquired Pituitary Hormone Deficiency 7
944 c DBT096 Diabetes Mellitus, Congenital Autoimmune 7
945 CLS025 Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 7
946 PNC026 Pancreatic Mucinous Ductal Ectasia 6
947 TST008 Testis Polyembryoma 6
948 c PRT125 Parotitis, Juvenile Recurrent 6
949 c RRH010 Rare Hypoparathyroidism 6
950 c ACQ064 Acquired Premature Ovarian Failure 6
951 GNT051 Genetic Non-Syndromic Obesity 6
952 c OVR025 Ovarian Mucinous Malignant Adenofibroma 6
953 MKT001 Mikati-Najjar-Sahli Syndrome 6
954 CHL036 Childhood Mature Teratoma of the Ovary 6
955 GLN004 Glandular Pattern Ovarian Yolk Sac Tumor 6
956 OVR036 Ovarian Endometrioid Cystadenofibroma 6
957 SYN101 Syndromic Hypothyroidism 6
958 c RRD013 Rare Diabetes Mellitus Type 2 5
959 c RRD012 Rare Diabetes Mellitus Type 1 5
960 c RRH011 Rare Hyperparathyroidism 5
961 c HYP232 Hypothyroidism Due to Iodide Transport Defect 5
962 CHN078 Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome 5
963 DSR068 Disorder of Peptide Metabolism 5
964 DSR077 Disorder of the Gamma-Glutamyl Cycle 5
965 NNC017 Non-Acquired Pituitary Hormone Deficiency 5
966 PRM330 Primary Congenital Hypothyroidism Without Thyroid Developmental Anomaly 5
967 P RRH006 Rare Hyperlipidemia 5
968 MXD048 Mixed Functioning Pituitary Adenoma 5
969 c PRM358 Primary Ovarian Insufficiency 9 5
970 MXD004 Mixed Eosinophil-Basophil Adenoma 5
971 P RRH027 Rare Hypercholesterolemia 5
972 TST042 Testicular Pure Germ Cell Tumor 5
973 DSR035 Disorder of Bilirubin Metabolism and Excretion 5
974 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
975 RRS009 Rare Surgically Correctable Form of Primary Aldosteronism 5
976 46X075 46,xx Disorder of Sex Development Induced by Fetal Androgens Excess 4
977 P RRN005 Rare Insulin-Resistance Syndrome 4
978 PLY007 Polyvesicular Vitelline Pattern Ovarian Yolk Sac Tumor 4
979 c PRM350 Primary Ovarian Insufficiency 2a 4
980 c DSR009 Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation 4
981 c PRM357 Primary Ovarian Insufficiency 8 4
982 c OVR071 Ovarian Insufficiency, Familial 4
983 c PRM356 Primary Ovarian Insufficiency 7 4
984 DSR024 Disorder of Folate Metabolism and Transport 4
985 c DSR050 Disorder of Beta and Omega Amino Acid Metabolism 4
986 c RRH005 Rare Hypoaldosteronism 4
987 c RRD014 Rare Adult Hypothyroidism 4
988 MTC185 Mitochondrial Substrate Carrier Disorder 4
989 PLY015 Polyvesicular Vitelline Pattern Testicular Yolk Sac Tumor 4
990 c MTB012 Metabolic Disease Due to Other Fatty Acid Oxidation Disorder 4
991 NNR001 Non-Renal Secondary Hyperparathyroidism 4
992 c GNT178 Genetic Chronic Primary Adrenal Insufficiency 4
993 RRD015 Rare Disorder with Hypergonadotropic Hypogonadism 4
994 DSR080 Disorder of Cobalamin Metabolism and Transport 4
995 CNG594 Congenital Thyroid Malformation Without Hypothyroidism 4
996 c ACQ068 Acquired Chronic Primary Adrenal Insufficiency 3
997 OBS083 Obesity Due to Congenital Leptin Resistance 3
998 PTT066 Pituitary Hormone Deficiency of Meningeal Origin 3
999 PTT065 Pituitary Hormone Deficiency Secondary to a Granulomatous Disease 3
1000 RRP003 Rare Peripheral Precocious Puberty 3
1001 MLT176 Multiple Polyglandular Tumor 3
1002 RRN018 Rare Endocrine Growth Disease 3
1003 RRD020 Rare Disease with Cushing Syndrome As a Major Feature 3
1004 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 37
1005 THY025 Thymus Cancer 57
1006 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 37
1007 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 37
1008 c THY109 Thyroid Cancer, Nonmedullary, 1 57
1009 IMM177 Immunodeficiency 54 44
1010 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 27
1011 NRN006 Neuroendocrine Carcinoma of the Cervix 22
1012 IGG007 Igg4-Related Disease 50
1013 ECC003 Eccrine Papillary Adenoma 30
1014 ECC008 Eccrine Sweat Gland Neoplasm 25
1015 ECC007 Eccrine Sweat Gland Cancer 25
1016 APM001 Aapoaii Amyloidosis 17
1017 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
1018 c HMC039 Hemochromatosis, Type 1 75
1019 P LFR001 Li-Fraumeni Syndrome 73
1020 c GLY008 Glycogen Storage Disease Ii 72
1021 P PHC003 Pheochromocytoma 70
1022 P FRG001 Fragile X Syndrome 69
1023 c AMY087 Amyloidosis, Hereditary, Transthyretin-Related 67
1024 CRB011 Cerebrotendinous Xanthomatosis 67
1025 THY121 Thyroid Gland Anaplastic Carcinoma 67
1026 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 66
1027 ADR016 Adrenal Cortical Carcinoma 66
1028 c GLY060 Glycogen Storage Disease Ia 66
1029 P AMY004 Amyloidosis 66
1030 c GLY004 Glycogen Storage Disease V 65
1031 c GLY003 Glycogen Storage Disease Iii 65
1032 P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 65
1033 c GLY007 Glycogen Storage Disease Iv 64
1034 ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 64
1035 NTR005 Nutritional Deficiency Disease 64
1036 P HYP374 Hypothyroidism, Congenital, Nongoitrous, 1 64
1037 THY122 Thyroid Gland Cancer 63
1038 ACR007 Acromegaly 63
1039 P HYP069 Hyperparathyroidism 63
1040 P NRB001 Neuroblastoma 62
1041 c HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 61
1042 c HYP841 Hypoalphalipoproteinemia, Primary, 1 61
1043 c GRV008 Graves Disease 1 60
1044 DBN001 Dubin-Johnson Syndrome 60
1045 c GLY005 Glycogen Storage Disease Vi 59
1046 c ACT027 Acute Pancreatitis 59
1047 CLR108 Colorectal Adenoma 59
1048 P GLY013 Glycogen Storage Disease 59
1049 ALL001 Allan-Herndon-Dudley Syndrome 57
1050 PND002 Pendred Syndrome 57
1051 P PNC044 Pancreatitis 57
1052 c FML116 Familial Cold Autoinflammatory Syndrome 1 57
1053 P ACT092 Acth-Independent Macronodular Adrenal Hyperplasia 57
1054 c GLY011 Glycogen Storage Disease Vii 57
1055 HYP005 Hypokalemia 56
1056 c CNT122 Central Diabetes Insipidus 56
1057 c HMC009 Hemochromatosis Type 2 56
1058 ADR008 Adrenal Adenoma 56
1059 PRD004 Prediabetes Syndrome 56
1060 APP015 Apparent Mineralocorticoid Excess 56
1061 APH001 Aphthous Stomatitis 56
1062 P HYP024 Hypoparathyroidism 56
1063 P FML068 Familial Hypocalciuric Hypercalcemia 55
1064 P FML052 Familial Cold Autoinflammatory Syndrome 55
1065 c HMC035 Hemochromatosis, Type 4 55
1066 P DBT005 Diabetes Insipidus 55
1067 OVR012 Ovarian Serous Cystadenocarcinoma 54
1068 HYP083 Hypopituitarism 54
1069 P LCT002 Lactose Intolerance 54
1070 HYP781 Hypoascorbemia 54
1071 P FML012 Familial Partial Lipodystrophy 54
1072 ZLL002 Zollinger-Ellison Syndrome 53
1073 c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 53
1074 CHP002 Chops Syndrome 53
1075 JHN001 Johanson-Blizzard Syndrome 52
1076 c CNT075 Central Precocious Puberty 52
1077 TST014 Testicular Cancer 52
1078 PRX005 Peroxisomal Biogenesis Disorder 52
1079 P VND002 Van Der Woude Syndrome 52
1080 P OVR049 Ovarian Disease 52
1081 c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 52
1082 P PRM051 Primary Pigmented Nodular Adrenocortical Disease 51
1083 c HMC010 Hemochromatosis, Type 3 51
1084 IMM064 Immunodeficiency, Common Variable, 10 51
1085 P THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 51
1086 CMB062 Combined Pituitary Hormone Deficiencies, Genetic Forms 51
1087 GLC042 Glucocorticoid Deficiency 1 51
1088 c FML253 Familial Cold Autoinflammatory Syndrome 3 51
1089 PRT029 Parathyroid Adenoma 50
1090 c HYP513 Hypogonadotropic Hypogonadism 1 with or Without Anosmia 50
1091 DFF036 Differentiated Thyroid Carcinoma 50
1092 c GLY097 Glycogen Storage Disease Ixb 49
1093 P HMG032 Hemoglobin H Disease 49
1094 PNC041 Pancreatic Ductal Adenocarcinoma 49
1095 THY125 Thyroid Gland Medullary Carcinoma 49
1096 MRG013 Mirage Syndrome 49
1097 PTT004 Pituitary Apoplexy 49
1098 c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 48
1099 P OVR046 Ovarian Cyst 48
1100 VTM002 Vitamin B12 Deficiency 48
1101 FSH001 Fish-Eye Disease 48
1102 c GLY115 Glycogen Storage Disease Ixd 48
1103 c ACT150 Acute Adrenal Insufficiency 47
1104 SHH001 Sheehan Syndrome 47
1105 SML028 Semilobar Holoprosencephaly 47
1106 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 47
1107 PLR023 Polr3-Related Leukodystrophy 47
1108 P GRW001 Growth Hormone Secreting Pituitary Adenoma 47
1109 ALB014 Alobar Holoprosencephaly 47
1110 c FML117 Familial Cold Autoinflammatory Syndrome 2 47
1111 NPH013 Nephrogenic Syndrome of Inappropriate Antidiuresis 46
1112 P THY061 Thyroid Dyshormonogenesis 2a 46
1113 PRX001 Peroxisomal Disease 46
1114 ORG002 Organic Acidemia 46
1115 P PRC019 Precocious Puberty 46
1116 c GLY016 Glycogen Storage Disease Ib 46
1117 CRB025 Carbohydrate Metabolic Disorder 46
1118 c GLY009 Glycogen Storage Disease Xv 46
1119 P PLL002 Pellagra 46
1120 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 45
1121 END059 Endocrine-Cerebroosteodysplasia 45
1122 P BRB001 Beriberi 45
1123 LCT013 Lactase Deficiency, Congenital 45
1124 BTN004 Biotin Deficiency 45
1125 ARC025 Arachnoid Cysts, Intracranial 45
1126 c 46X051 46,xy Sex Reversal 1 45
1127 ISL114 Isolated Growth Hormone Deficiency, Type Ii 44
1128 c LPD019 Lipodystrophy, Partial, Acquired 44
1129 c HMG003 Hemoglobin E Disease 44
1130 PNC013 Pancreatic Ductal Carcinoma 43
1131 c GLY044 Glycogen Storage Disease Ixc 43
1132 c HMC021 Hemochromatosis, Type 2a 43
1133 BSM002 Bosma Arhinia Microphthalmia Syndrome 42
1134 c HMC019 Hemochromatosis, Type 2b 42
1135 OPS001 Opisthorchiasis 41
1136 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 41
1137 c NRB010 Neuroblastoma 1 41
1138 P HYP121 Hypoalphalipoproteinemia 41
1139 THY039 Thyrotropin-Releasing Hormone Deficiency 41
1140 c HMG001 Hemoglobin C Disease 41
1141 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 41
1142 c HMC034 Hemochromatosis, Type 5 41
1143 THY069 Thyroid Hormone Resistance, Selective Pituitary 40
1144 c 46X055 46,xy Sex Reversal 3 40
1145 TSH001 Tsh Producing Pituitary Tumor 40
1146 c ACT202 Acth-Independent Macronodular Adrenal Hyperplasia 2 40
1147 PNC104 Pancreatic and Cerebellar Agenesis 40
1148 OVR105 Ovarian Serous Carcinoma 39
1149 P PNC045 Pancreatic Agenesis 39
1150 PNC015 Pancreatic Acinar Cell Adenocarcinoma 39
1151 c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 39
1152 c VND007 Van Der Woude Syndrome 1 39
1153 P FML362 Familial Isolated Hypoparathyroidism 39
1154 c VNT027 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 38
1155 P SYN140 Syndrome with 46,xy Disorder of Sex Development 38
1156 c GLY057 Glycogen Storage Disease X 38
1157 OVR047 Ovarian Cystadenocarcinoma 38
1158 CRT020 Cortisone Reductase Deficiency 37
1159 c MLG157 Malignant Pheochromocytoma 37
1160 c GLY043 Glycogen Storage Disease Xii 37
1161 c HMG029 Hemoglobin Se Disease 37
1162 c CNG002 Congenital Bile Acid Synthesis Defect 37
1163 c FML270 Familial Cold Autoinflammatory Syndrome 4 36
1164 c THY071 Thyroid Dyshormonogenesis 1 36
1165 c HYP438 Hyperaldosteronism, Familial, Type Iii 36
1166 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 36
1167 c HYP355 Hypothyroidism, Congenital, Nongoitrous, 3 36
1168 PNC027 Pancreatic Gastrinoma 36
1169 c GLY006 Glycogen Storage Disease Viii 36
1170 GRW023 Growth Hormone Deficiency, Isolated Partial 36
1171 c LFR009 Li-Fraumeni Syndrome 1 35
1172 c 46X057 46,xy Sex Reversal 8 35
1173 c THY056 Thyroid Dyshormonogenesis 3 35
1174 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 35
1175 HPT025 Hepatic Lipase Deficiency 35
1176 c THY110 Thyroid Dyshormonogenesis 6 35
1177 PRL010 Prolactin Producing Pituitary Tumor 35
1178 c LFR007 Li-Fraumeni Syndrome 2 35
1179 LMB008 Limb-Mammary Syndrome 35
1180 c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 34
1181 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 34
1182 P CNT037 Central Nervous System Germinoma 34
1183 ISL125 Isolated Growth Hormone Deficiency Type Iii 34
1184 c HYP600 Hyperaldosteronism, Familial, Type Ii 34
1185 c HMG004 Hemoglobin D Disease 34
1186 PNC127 Pancreatic Adenosquamous Carcinoma 33
1187 ANR018 Anorchia 33
1188 ATR009 Atrophy of Testis 33
1189 SPR018 Spermatocytoma 33
1190 c HYP864 Hypoparathyroidism, Familial Isolated, 1 33
1191 c PTT058 Pituitary Adenoma 2, Growth Hormone-Secreting 33
1192 HRM003 Hormone Producing Pituitary Cancer 33
1193 ADR057 Adrenogenital Syndrome 33
1194 IMM005 Immature Teratoma of Ovary 33
1195 P HRD207 Hereditary Transthyretin Amyloidosis 32
1196 c NRB015 Neuroblastoma 2 32
1197 c HYP547 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 32
1198 c GLY017 Glycogen Storage Disease Ic 32
1199 OVR013 Ovarian Mucinous Cystadenocarcinoma 31
1200 CRT066 Cortisone Reductase Deficiency 2 31
1201 PNC016 Pancreatic Cholera 31
1202 c HYP708 Hyperaldosteronism, Familial, Type Iv 31
1203 CYL004 Cylindromatosis, Familial 31
1204 BRN137 Bronchial Neuroendocrine Tumor 31
1205 THY127 Thyroid Gland Hurthle Cell Carcinoma 30
1206 TLL001 Tall Cell Variant Papillary Carcinoma 30
1207 c GLY023 Glycogen Storage Disease Type 0 30
1208 P FML156 Familial Hyperaldosteronism 30
1209 ADR004 Adrenal Cortical Adenocarcinoma 30
1210 CRP004 Corpus Luteum Cyst 30
1211 MTH082 Methemoglobinemia and Ambiguous Genitalia 30
1212 PPM002 Ppoma 30
1213 c MLG053 Malignant Ovarian Brenner Tumor 30
1214 c LYD013 Leydig Cell Hypoplasia Type Ii 30
1215 THY031 Thyroid Sarcoma 29
1216 GLC043 Glucocorticoid Deficiency 2 29
1217 c GLY059 Glycogen Storage Disease Xiii 29
1218 c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 29
1219 HMT001 Hematocele of Tunica Vaginalis Testis 28
1220 c NRB014 Neuroblastoma 3 28
1221 c HYP860 Hypothyroidism, Congenital, Nongoitrous, 7 28
1222 DSR052 Disorder of Glyoxylate Metabolism 28
1223 WTB001 Wet Beriberi 28
1224 c GLY093 Glycogen Storage Disease Ixa 28
1225 GST035 Gestational Ovarian Choriocarcinoma 28
1226 c LPD044 Lipodystrophy, Familial Partial, Type 7 27
1227 c HYP514 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 27
1228 PRM315 Permanent Congenital Hypothyroidism 27
1229 PNC038 Pancreatic Cystadenocarcinoma 27
1230 OVR021 Ovarian Lymphoma 27
1231 SCN001 Secondary Hyperparathyroidism of Renal Origin 27
1232 TST010 Testicular Spermatocytic Seminoma 27
1233 c LCT011 Lactose Intolerance, Adult Type 27
1234 NNN001 Nonencapsulated Sclerosing Carcinoma 27
1235 MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 27
1236 IGG015 Igg4-Related Thyroid Disease 27
1237 c HYP720 Hyperparathyroidism 4 27
1238 PYR035 Pyrimidine Metabolic Disorder 26
1239 GNT043 Genitopalatocardiac Syndrome 26
1240 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 26
1241 CRT065 Cortisone Reductase Deficiency 1 26
1242 c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26
1243 PNC028 Pancreatic Steatorrhea 26
1244 PNC017 Pancreatic Serous Cystic Neoplasm 26
1245 MCN003 Mucinous Ovarian Cystadenoma 26
1246 c HYP444 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 25
1247 HYP683 Hypogonadism-Cataract Syndrome 25
1248 c VND004 Van Der Woude Syndrome 2 25
1249 P HFH002 Hfe Hemochromatosis 25
1250 c PRM340 Primary Adrenal Insufficiency 25
1251 PST034 Posterior Pituitary Gland Neoplasm 25
1252 HYP835 Hypothalamic Obesity 25
1253 c PRD023 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 2 24
1254 c HYP882 Hypogonadotropic Hypogonadism 26 with or Without Anosmia 24
1255 HST007 Histidine Metabolism Disease 24
1256 TST007 Testicular Infarct 24
1257 PNC031 Pancreatic Foamy Gland Adenocarcinoma 24
1258 END036 Endocrine Organ Benign Neoplasm 24
1259 ISL082 Isolated Atp Synthase Deficiency 23
1260 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 23
1261 DFN313 Deafness-Hypogonadism Syndrome 23
1262 c GLY001 Glycogen Storage Disease Ix 23
1263 OVR109 Ovarian Germ Cell Teratoma 23
1264 OVR027 Ovarian Squamous Cell Carcinoma 23
1265 OVR040 Ovarian Clear Cell Cystadenocarcinoma 23
1266 ECT094 Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type 23
1267 MSC089 Mosaic Monosomy X 22
1268 c TFR001 Tfr2-Related Hereditary Hemochromatosis 22
1269 OBS067 Obesity Due to Melanocortin 4 Receptor Deficiency 22
1270 OVR104 Ovarian Melanoma 22
1271 MTR011 Mature Teratoma of the Ovary 22
1272 MRB006 Morbid Obesity and Spermatogenic Failure 22
1273 THY108 Thymic Neuroendocrine Tumor 22
1274 FNC003 Functionless Pituitary Adenoma 22
1275 HYP645 Hyperthyroxinemia, Dystransthyretinemic 21
1276 TST005 Testicular Gonadoblastoma 21
1277 c OVR018 Ovarian Clear Cell Malignant Adenofibroma 21
1278 IDP034 Idiopathic Central Precocious Puberty 21
1279 FTL005 Fetal Adenoma 21
1280 EPD012 Epididymal Neoplasm 21
1281 DSR055 Disorder of Galactose Metabolism 20
1282 c HYP883 Hypogonadotropic Hypogonadism 27 Without Anosmia 20
1283 c HYP886 Hypoalphalipoproteinemia, Primary, 2, Intermediate 20
1284 c RRH023 Rare Hereditary Hemochromatosis 20
1285 NNN035 Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome 20
1286 NNC019 Non-Acquired Panhypopituitarism 20
1287 CHL172 Childhood Testicular Germ Cell Tumor 19
1288 P DSR081 Disorder of Bile Acid Synthesis 19
1289 DVL139 Developmental and Epileptic Encephalopathy 105 with Hypopituitarism 19
1290 OVR056 Ovarian Primitive Germ Cell Tumor 19
1291 c RSS030 Resistance to Thyroid Hormone Due to a Mutation in Thyroid Hormone Receptor Beta 19
1292 PRT020 Parathyroid Oncocytic Adenoma 19
1293 SPN279 Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor 19
1294 SMT017 Somatomammotropinoma 18
1295 CLL009 Colloid Carcinoma of the Pancreas 18
1296 DSR036 Disorder of Mineral Absorption and Transport 18
1297 c MLG033 Malignant Ovarian Cyst 18
1298 c HYP311 Hyperparathyroidism 3 18
1299 c PRM150 Primary Localized Amyloidosis 18
1300 INT298 Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome 18
1301 c PLL014 Pellagra-Like Syndrome 17
1302 HYP479 Hyperinsulinism Due to Hnf4a Deficiency 17
1303 c PRD027 Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion 17
1304 PRM187 Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 17
1305 P PRM210 Primary Lipodystrophy 17
1306 MLT005 Multicentric Papillary Thyroid Carcinoma 17
1307 THY131 Thyrotoxic Myopathy 16
1308 PNC126 Pancreatic Squamous Cell Carcinoma 16
1309 ECT055 Ectopic Aldosterone-Producing Tumor 16
1310 c CTC003 Catecholaminergic Polymorphic Ventricular Tachycardia 5 16
1311 THY016 Thyroid Hurthle Cell Adenoma 16
1312 TST040 Testicular Trophoblastic Tumor 16
1313 PSD102 Pseudohermaphroditism, Female, with Skeletal Anomalies 16
1314 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 15
1315 INH021 Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency 15
1316 GNT041 Genetic Lipodystrophy 15
1317 SLN005 Silent Pituitary Adenoma 15
1318 THY092 Thymic Neuroendocrine Carcinoma 15
1319 ALC030 Alect2 Amyloidosis 15
1320 c NRB012 Neuroblastoma 5 15
1321 c NRB016 Neuroblastoma 7 14
1322 INF124 Infundibulo-Neurohypophysitis 14
1323 CHR727 Chronic Neurovisceral Acid Sphingomyelinase Deficiency 14
1324 SYM015 Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers 14
1325 SXC004 Sex Chromosome Disorder of Sex Development 13
1326 c NRB011 Neuroblastoma 4 13
1327 NRN032 Neuroendocrine Tumor of Anal Canal 12
1328 c FML196 Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland 12
1329 MBS006 Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome 12
1330 c NRB013 Neuroblastoma 6 12
1331 PYR043 Pyruvate Metabolism Disorder 9
1332 PPL010 Papillary Follicular Thyroid Adenocarcinoma 9
1333 INT279 Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome 9
1334 CLS028 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form 9
1335 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 8
1336 P RRD068 Rare Adrenal Disease 8
1337 HGH029 High-Grade Neuroendocrine Carcinoma of the Corpus Uteri 8
1338 TST011 Testis Rhabdomyosarcoma 8
1339 PRL043 Poorly Differentiated Thymic Neuroendocrine Carcinoma 8
1340 CLM001 Columnar Cell Variant Papillary Carcinoma 8
1341 c RRP004 Rare Primary Hyperaldosteronism 8
1342 DSR020 Disorder of Ornithine Metabolism 7
1343 DZX006 Diazoxide-Resistant Focal Hyperinsulinism 7
1344 CHL038 Childhood Choriocarcinoma of the Ovary 7
1345 c RRP025 Rare Precocious Puberty 7
1346 MLG047 Malignant Thyroid Stimulating Hormone Producing Neoplasm of Pituitary Gland 7
1347 TST002 Testicular Brenner Tumor 7
1348 OVR019 Ovarian Malignant Mesothelioma 7
1349 RRP032 Rare Parathyroid Tumor 7
1350 TST009 Testis Refractory Cancer 6
1351 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 6
1352 c ADL036 Adult Central Nervous System Germinoma 6
1353 RRD066 Rare Dyslipidemia 6
1354 CHL063 Childhood Teratoma of the Ovary 6
1355 PNC020 Pancreatic Solid Pseudopapillary Carcinoma 6
1356 c MTC192 Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna 6
1357 c MTC190 Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies 6
1358 c MTC189 Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna 6
1359 PNC040 Pancreatic Delta Cell Neoplasm 5
1360 DZX003 Diazoxide-Resistant Diffuse Hyperinsulinism 5
1361 PLY009 Polyembryoma of the Ovary 5
1362 MLG045 Malignant Growth Hormone Secreting Neoplasm of Pituitary 5
1363 SYN174 Syndrome of Reduced Sensitivity to Thyroid Hormone 5
1364 PNC004 Pancreatic Non-Invasive Mucinous Cystadenocarcinoma 5
1365 ADR006 Adrenal Gland Ganglioneuroblastoma 5
1366 OVR014 Ovarian Clear Cell Cystadenofibroma 5
1367 MDR005 Moderately-Differentiated Thymic Neuroendocrine Carcinoma 5
1368 SLD001 Solid Pattern Testicular Yolk Sac Tumor 5
1369 DSR033 Disorder of Metabolite Absorption and Transport 5
1370 CRB003 Cribriform Variant Testicular Seminoma 5
1371 DSR071 Disorder of Glycerol Metabolism 5
1372 RTC004 Reticular Pattern Testicular Yolk Sac Tumor 5
1373 c FRG006 Fragile X Syndrome Type 3 4
1374 NNC007 Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency 4
1375 c FRG005 Fragile X Syndrome Type 2 4
1376 c FRG004 Fragile X Syndrome Type 1 4
1377 DSR038 Disorder of Catecholamine Synthesis 4
1378 DSR059 Disorder of Carnitine Cycle and Carnitine Transport 4
1379 MXD018 Mixed Cell Type Adenoma of Parathyroid 4
1380 c PRM363 Primary Ovarian Insufficiency 14 4
1381 c PRM354 Primary Ovarian Insufficiency 5 4
1382 MCN026 Mucinous Pancreas Adenocarcinoma 4
1383 46X069 46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen 4
1384 46X076 46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen 4
1385 46X068 46,xx Disorder of Sex Development Induced by Exogenous Maternal-Derived Androgen 4
1386 c PRM351 Primary Ovarian Insufficiency 2b 4
1387 DSR054 Disorder of Lipid Absorption and Transport 4
1388 c OVR030 Ovarian Endometrioid Malignant Adenofibroma 4
1389 PNC030 Pancreatic Non-Invasive Intraductal Papillary-Mucinous Carcinoma 4
1390 P 46X065 46,xy Disorder of Gonadal Development 4
1391 NNC018 Non-Acquired Combined Pituitary Hormone Deficiencies Without Extrapituitary Malformations 4
1392 PNC003 Pancreatic Invasive Mucinous Cystadenocarcinoma 4
1393 ATY046 Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome 4
1394 46X066 46,xy Disorder of Sex Development of Endocrine Origin 4
1395 BLP052 Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome 4
1396 PNC023 Pancreatic Non-Functioning Delta Cell Tumor 4
1397 RRH007 Rare Hypolipidemia 4
1398 RRN011 Rare Non Surgically Correctable Form of Primary Aldosteronism 3
1399 RRH003 Rare Hypothalamic or Pituitary Disease 3
1400 PTT064 Pituitary Hormone Deficiency Secondary to Storage Disease 3
1401 MTC186 Mitochondrial Protein Import Disorder 3
1402 46X064 46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors 3
1403 DSS031 Disease Associated with Non-Acquired Combined Pituitary Hormone Deficiency 3
1404 PSD120 Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy 3
1405 NRN048 Neuroendocrine Tumor with Other Location 3
1406 OTH013 Other Rare Diabetes Mellitus 3
1407 END089 Endocrinopathy with Congenital Hypogonadotropic Hypogonadism As a Major Feature 3
1408 ADR058 Adrenal/paraganglial Tumor 3
1409 DYS002 Dysplastic Nevus Syndrome 48
1410 P PNC035 Pancreatic Cancer 91
1411 P HYP724 Hyperlipoproteinemia, Type Iii 72
1412 c NMN015 Niemann-Pick Disease, Type C1 71
1413 P LVR013 Liver Disease 71
1414 THY111 Thyroid Carcinoma, Familial Medullary 69
1415 P MYC084 Mycobacterium Tuberculosis 1 68
1416 P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
1417 c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 66
1418 P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 66
1419 c NMN013 Niemann-Pick Disease, Type a 66
1420 PNC129 Pancreatic Adenocarcinoma 65
1421 HYP056 Hypoglycemia 65
1422 SPT006 Septooptic Dysplasia 65
1423 OVR029 Ovarian Hyperstimulation Syndrome 65
1424 P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64
1425 LRN002 Laron Syndrome 63
1426 AND002 Androgen Insensitivity Syndrome 63
1427 INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 63
1428 c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 63
1429 c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63
1430 PRG017 Paraganglioma and Gastric Stromal Sarcoma 63
1431 c NMN016 Niemann-Pick Disease, Type B 62
1432 CHN055 Chanarin-Dorfman Syndrome 62
1433 BTT017 Beta-Thalassemia Major 61
1434 P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 61
1435 P NRN021 Neuronal Ceroid Lipofuscinosis 61
1436 PRC038 Precocious Puberty, Male-Limited 60
1437 CRY035 Cryptorchidism, Unilateral or Bilateral 60
1438 P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 60
1439 DBT084 Diabetes Mellitus, Ketosis-Prone 60
1440 P NMN002 Niemann-Pick Disease 60
1441 CFF002 Coffin-Lowry Syndrome 59
1442 CYS010 Cystinosis 59
1443 P PLY011 Polycystic Ovary Syndrome 59
1444 HSH003 Hashimoto Thyroiditis 59
1445 c HYP843 Hypoalphalipoproteinemia, Primary, 2 59
1446 c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 59
1447 c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 58
1448 ISL014 Isolated Growth Hormone Deficiency, Type Ia 58
1449 c PRM005 Primary Hyperparathyroidism 58
1450 P MLT074 Multiple Endocrine Neoplasia 57
1451 ADR049 Adrenal Hypoplasia, Congenital 57
1452 c HYP740 Hyperlipoproteinemia, Type V 57
1453 P CRP023 Carpenter Syndrome 1 57
1454 c ACT134 Acute Liver Failure 57
1455 CRC006 Carcinoid Syndrome 57
1456 END002 Endometrioid Ovary Carcinoma 57
1457 c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56
1458 P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 56
1459 ADR056 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56
1460 GST112 Gastrointestinal Defects and Immunodeficiency Syndrome 1 56
1461 HYP081 Hypolipoproteinemia 56
1462 PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56
1463 GLB001 Gilbert Syndrome 55
1464 c CRD259 Ceroid Lipofuscinosis, Neuronal, 6a 55
1465 OVR044 Ovarian Carcinosarcoma 55
1466 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 55
1467 c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 54
1468 SRM004 Serum Amyloid a Amyloidosis 54
1469 PGT003 Paget Disease, Extramammary 54
1470 ACT238 Acth Deficiency, Isolated 53
1471 P LSS037 Lissencephaly, X-Linked, 2 53
1472 c HYP739 Hyperlipoproteinemia, Type Iv 53
1473 c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 53
1474 SMT003 Somatostatinoma 53
1475 c NMN014 Niemann-Pick Disease, Type C2 53
1476 c MLT086 Multiple Endocrine Neoplasia, Type Iv 53
1477 URC002 Urea Cycle Disorder 52
1478 THY029 Thyroid Carcinoma 52
1479 BRJ001 Borjeson-Forssman-Lehmann Syndrome 52
1480 SCR037 Sucrase-Isomaltase Deficiency, Congenital 52
1481 VTM033 Vitamin K Deficiency Bleeding 52
1482 c CRD182 Ceroid Lipofuscinosis, Neuronal, 10 52
1483 c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 51
1484 P PRS049 Persistent Mullerian Duct Syndrome 51
1485 WRN002 Wernicke-Korsakoff Syndrome 51
1486 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 51
1487 THY123 Thyroid Gland Follicular Carcinoma 51
1488 P PRM030 Permanent Neonatal Diabetes Mellitus 51
1489 ISL003 Isolated Growth Hormone Deficiency 50
1490 P PTT006 Pituitary Adenoma 50
1491 ADR012 Adrenal Gland Disease 49
1492 ECT061 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 49
1493 c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 49
1494 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 48
1495 NNT017 Neonatal Adrenoleukodystrophy 48
1496 c LSS036 Lissencephaly, X-Linked, 1 48
1497 P TTR031 Tetraamelia Syndrome 48
1498 ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 47
1499 MLL011 Mullerian Aplasia and Hyperandrogenism 47
1500 P ATM019 Autoimmune Polyendocrine Syndrome 47
1501 c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 47
1502 NRN001 Neuroendocrine Carcinoma 46
1503 PNC118 Pancreas, Annular 46
1504 c INF145 Infantile Liver Failure Syndrome 1 45
1505 c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 45
1506 c FML297 Familial Thyroid Dyshormonogenesis 44
1507 WTK002 Witkop Syndrome 44
1508 c PLY105 Polycystic Ovary Syndrome 1 43
1509 WDM005 Wiedemann-Rautenstrauch Syndrome 43
1510 c CRD258 Ceroid Lipofuscinosis, Neuronal, 6b 43
1511 c HYP651 Hypogonadotropic Hypogonadism 23 with or Without Anosmia 43
1512 TMP012 Temple Syndrome 43
1513 P OVR106 Ovarian Clear Cell Carcinoma 43
1514 c CRD239 Ceroid Lipofuscinosis, Neuronal, 13 43
1515 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
1516 EST007 Estrogen Resistance 42
1517 P TST026 Testicular Germ Cell Cancer 42
1518 c CRD257 Ceroid Lipofuscinosis, Neuronal, 4 42
1519 EMP001 Empty Sella Syndrome 42
1520 LPS020 Lipase Deficiency, Combined 42
1521 HRT040 Hirata Disease 42
1522 PRP098 Proprotein Convertase 1/3 Deficiency 42
1523 PNC008 Pancreatic Endocrine Carcinoma 42
1524 c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 41
1525 c PRS128 Persistent Mullerian Duct Syndrome, Types I and Ii 40
1526 THY124 Thyroid Gland Papillary Carcinoma 40
1527 c LVR030 Liver Failure, Infantile, Transient 40
1528 SYR002 Syringocystadenoma Papilliferum 40
1529 c LPD036 Lipodystrophy, Familial Partial, Type 6 40
1530 DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 39
1531 48X003 48,xxyy Syndrome 39
1532 c KNN009 Kenny-Caffey Syndrome, Type 1 39
1533 OST004 Osteitis Fibrosa 38
1534 DYS017 Dysgerminoma of Ovary 38
1535 ECC004 Eccrine Porocarcinoma 38
1536 c ABD013 Abdominal Obesity-Metabolic Syndrome 3 38
1537 HYP856 Hypothyroidism, Central, with Testicular Enlargement 37
1538 OVR054 Ovarian Mucinous Neoplasm 36
1539 DNC004 Diencephalic Syndrome 36
1540 RCT005 Rectum Neuroendocrine Neoplasm 36
1541 HYP636 Hypocalcemic Vitamin D-Dependent Rickets 36
1542 c ADL066 Adult Neuronal Ceroid Lipofuscinosis 36
1543 CHR525 Chromosome Xq26.3 Duplication Syndrome 36
1544 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 35
1545 PNC039 Pancreatic Cystadenoma 35
1546 HSH004 Hashimoto Encephalopathy 34
1547 NNF007 Non-Functioning Pituitary Adenoma 34
1548 c CRP022 Carpenter Syndrome 2 34
1549 c MLG059 Malignant Struma Ovarii 34
1550 OPT032 Optic Pathway Glioma 34
1551 ADR014 Adrenal Medulla Cancer 33
1552 c ECT072 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 33
1553 PNC006 Pancreatic Somatostatinoma 33
1554 PNC010 Pancreatic Signet Ring Cell Adenocarcinoma 32
1555 c PTT060 Pituitary Adenoma 5, Multiple Types 32
1556 c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 32
1557 c INF194 Infantile Liver Failure Syndrome 31
1558 ANL014 Anal Canal Adenocarcinoma 31
1559 c INF138 Infantile Liver Failure Syndrome 2 31
1560 TTR013 Tetrasomy X 30
1561 HYP344 Hyperthyroidism, Familial Gestational 30
1562 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
1563 OVR015 Ovarian Mixed Germ Cell Neoplasm 29
1564 GRW026 Growth Hormone Insensitivity, Partial 29
1565 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 29
1566 BSP001 Basophil Adenoma 29
1567 MMS001 Momo Syndrome 29
1568 PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 28
1569 PPL003 Papillary Cystadenocarcinoma 28
1570 KWR001 Kowarski Syndrome 28
1571 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
1572 ADR003 Adrenal Neuroblastoma 27
1573 c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 27
1574 c MLG168 Malignant Exocrine Pancreas Neoplasm 27
1575 TST003 Testicular Leukemia 27
1576 c HYP819 Hyperlipoproteinemia, Type Id 26
1577 c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 26
1578 NRN044 Neuroendocrine Carcinoma of Pancreas 26
1579 c TTR028 Tetraamelia Syndrome 1 26
1580 MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 26
1581 PNH005 Panhypopituitarism, X-Linked 26
1582 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 26
1583 TCK002 Tick Paralysis 25
1584 c LVR033 Liver Disease, Severe Congenital 25
1585 c INF190 Infantile Liver Failure Syndrome 3 25
1586 c TTR029 Tetraamelia Syndrome 2 25
1587 DSR074 Disorder of Purine Metabolism 25
1588 PNC009 Pancreas Sarcoma 24
1589 INT405 Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism 24
1590 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 24
1591 MXD024 Mixed Epithelial Tumor of Ovary 24
1592 ANS010 Anus Adenocarcinoma 24
1593 c MCR331 Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii 23
1594 DDN028 Duodenal Neuroendocrine Tumor 23
1595 PNC024 Pancreatic Colloid Cystadenoma 23
1596 TRH001 Trehalase Deficiency 23
1597 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
1598 GRW032 Growth Factors, Combined Defect of 22
1599 NRN047 Neuroendocrine Neoplasm of Pancreas 22
1600 MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 22
1601 MYT025 Myotubular Myopathy with Abnormal Genital Development 22
1602 LYM123 Lymphedema-Hypoparathyroidism Syndrome 21
1603 BSL043 Basal Ganglia Calcification, Idiopathic, Childhood-Onset 21
1604 OVR039 Ovarian Mesodermal Adenosarcoma 21
1605 THY126 Thyroid Gland Mucoepidermoid Carcinoma 21
1606 NRN045 Neuroendocrine Neoplasm of Appendix 20
1607 OVR061 Ovary Sarcoma 19
1608 DSR026 Disorder of Tyrosine Metabolism 19
1609 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
1610 c ABD015 Abdominal Obesity-Metabolic Syndrome 4 19
1611 HRD017 Hordeolum Externum 19
1612 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 19
1613 MYX002 Myxoid Liposarcoma of the Ovary 18
1614 ADR035 Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion 18
1615 OVR020 Ovarian Wilms' Cancer 18
1616 HGH030 High-Grade Neuroendocrine Carcinoma of the Cervix Uteri 18
1617 SYN116 Syndromic Obesity 17
1618 RTV002 Rete Ovarii Adenocarcinoma 17
1619 GLL034 Gallbladder Neuroendocrine Tumor 16
1620 BRC092 Brachytelephalangy with Characteristic Facies and Kallmann Syndrome 16
1621 c AKT001 Akt2-Related Familial Partial Lipodystrophy 16
1622 INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 16
1623 KLL013 Kallmann Syndrome-Heart Disease Syndrome 15
1624 c MYC055 Mycobacterium Tuberculosis 3 14
1625 c MYC054 Mycobacterium Tuberculosis 2 13
1626 OVR055 Ovarian Papillary Neoplasm 13
1627 DSR023 Disorder of Tryptophan Metabolism 12
1628 DSR078 Disorder of Branched-Chain Amino Acid Metabolism 12
1629 MDD017 Middle Ear Neuroendocrine Tumor 12
1630 MLG170 Malignant Childhood Adrenal Gland Pheochromocytoma 12
1631 OTH021 Other Metabolic Disease 12
1632 NRN043 Neuroendocrine Neoplasm of Esophagus 11
1633 OBS068 Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome 11
1634 c CPR005 Cpe-Related Prader-Willi-Like Syndrome 9
1635 FML360 Familial Apolipoprotein A5 Deficiency 8
1636 CHL008 Childhood Ovarian Endodermal Sinus Tumor 8
1637 CHL064 Childhood Testicular Mixed Germ Cell Tumor 6
1638 PNC029 Pancreatic Acth Hormone Producing Tumor 6
1639 CHL011 Childhood Immature Teratoma of Ovary 6
1640 DSR021 Disorder of Lysine and Hydroxylysine Metabolism 6
1641 WLL020 Well-Differentiated Thymic Neuroendocrine Carcinoma 6
1642 MLG046 Malignant Acth Producing Neoplasm of Pituitary Gland 5
1643 OVR028 Ovarian Squamous Cell Neoplasm 5
1644 DSR058 Disorder of Sialic Acid Metabolism 5
1645 c 46X072 46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect 5
1646 TBL005 Tubular Variant Testicular Seminoma 5
1647 MCR003 Macrocystic Pattern Testicular Yolk Sac Tumor 5
1648 PPL012 Papillary Pattern Testicular Yolk Sac Tumor 5
1649 MYX003 Myxomatous Pattern Testicular Yolk Sac Tumor 5
1650 PSD013 Pseudoglandular Variant Testicular Seminoma 5
1651 DSR075 Disorder of Pyridoxine Metabolism 5
1652 OST010 Osteoclast-Like Giant Cell Neoplasm of the Pancreas 4
1653 PTT068 Pituitary Hormone Deficiency of Vascular Origin 4
1654 PNC021 Pancreatic Invasive Intraductal Papillary-Mucinous Carcinoma 4
1655 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
1656 TST041 Testicular Germ Cell Tumor Non-Seminomatous 4
1657 DSR034 Disorder of Pterin Metabolism 4
1658 RRD070 Rare Disorder with Multisystemic Involvement and Congenital Hypogonadotropic Hypogonadism 4
1659 RRP020 Rare Parathyroid Disease and Phosphocalcic Metabolism Anomaly 4
1660 PTT067 Pituitary Hormone Deficiency of Tumoral Origin 4
1661 46X070 46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess 4
1662 46X078 46,xx Disorder of Sex Development Induced by Androgens Excess 4
1663 GST109 Gastroenteric Neuroendocrine Neoplasm 3
1664 RRS005 Rare Syndromic Dyslipidemia 3
1665 END035 Endocrine Gland Cancer 48
1666 DCR011 Dicer1 Syndrome 49
1667 P BDY004 Body Mass Index Quantitative Trait Locus 11 82
1668 c MNN043 Meningioma, Familial 81
1669 INS024 Insulin-Like Growth Factor I 77
1670 SCH036 Scheie Syndrome 75
1671 P PLY014 Polycystic Kidney Disease 70
1672 c HYP768 Hyperlipoproteinemia, Type I 69
1673 LGH007 Leigh Syndrome 69
1674 c ATS347 Autosomal Dominant Polycystic Kidney Disease 69
1675 c MLT160 Multiple Endocrine Neoplasia, Type Iia 68
1676 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 67
1677 MRK001 Merkel Cell Carcinoma 67
1678 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1679 CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 67
1680 LWC002 Lowe Oculocerebrorenal Syndrome 67
1681 P PLL001 Pallister-Hall Syndrome 66
1682 ACH022 Achalasia-Addisonianism-Alacrima Syndrome 66
1683 c GM1007 Gm1 Gangliosidosis 66
1684 HYP020 Hyperprolactinemia 64
1685 PTT046 Pituitary Hormone Deficiency, Combined, 2 63
1686 P HYP838 Hyperlipidemia, Familial Combined, 3 62
1687 P CMP005 Campomelic Dysplasia 62
1688 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 62
1689 P HYP818 Hypobetalipoproteinemia, Familial, 1 62
1690 CHY002 Chylomicron Retention Disease 62
1691 c MCP004 Mucopolysaccharidosis Iv 61
1692 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
1693 c HYP731 Hyperaldosteronism, Familial, Type I 60
1694 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 60
1695 ADR005 Adrenal Carcinoma 60
1696 P 46X052 46,xx Sex Reversal 1 59
1697 INS001 Insulinoma 59
1698 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
1699 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 59
1700 c PRG047 Progressive Familial Intrahepatic Cholestasis 58
1701 IRN002 Iron Metabolism Disease 58
1702 AND020 Androgen Insensitivity, Partial 57
1703 SJG002 Sjogren-Larsson Syndrome 57
1704 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
1705 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57
1706 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 56
1707 c GM2005 Gm2-Gangliosidosis, Ab Variant 56
1708 CMP034 Complete Androgen Insensitivity Syndrome 56
1709 c GM1004 Gm1-Gangliosidosis, Type I 55
1710 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 54
1711 CLR029 Clark-Baraitser Syndrome 54
1712 ARM004 Aromatase Excess Syndrome 54
1713 c BDY021 Body Mass Index Quantitative Trait Locus 20 53
1714 PRS127 Pearson Marrow-Pancreas Syndrome 53
1715 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
1716 c GM1005 Gm1-Gangliosidosis, Type Ii 52
1717 GNG002 Ganglioneuroma 52
1718 c BDY020 Body Mass Index Quantitative Trait Locus 19 52
1719 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
1720 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
1721 P INT001 Intrahepatic Cholestasis 51
1722 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
1723 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
1724 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
1725 P TRM004 Trimethylaminuria 49
1726 HMC001 Homocarnosinosis 49
1727 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
1728 APP009 Appendix Adenocarcinoma 49
1729 P GNG009 Gangliosidosis 49
1730 GLC106 Glucocorticoid Resistance, Generalized 48
1731 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
1732 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
1733 PRL019 Prolidase Deficiency 47
1734 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
1735 c GM1006 Gm1-Gangliosidosis, Type Iii 47
1736 c BDY005 Body Mass Index Quantitative Trait Locus 9 47
1737 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
1738 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
1739 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
1740 c BDY019 Body Mass Index Quantitative Trait Locus 18 47
1741 c PSD092 Pseudohypoaldosteronism, Type Iie 47
1742 P PSD003 Pseudohypoaldosteronism 46
1743 PSD021 Pseudovaginal Perineoscrotal Hypospadias 46
1744 STT007 Steatocystoma Multiplex 46
1745 SPH010 Sphingolipidosis 46
1746 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
1747 P ACQ022 Acquired Generalized Lipodystrophy 46
1748 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
1749 P LYD011 Leydig Cell Hypoplasia 45
1750 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
1751 c BDY010 Body Mass Index Quantitative Trait Locus 4 45
1752 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
1753 c GM2006 Gm2 Gangliosidosis 45
1754 c BDY017 Body Mass Index Quantitative Trait Locus 14 45
1755 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
1756 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
1757 c BDY015 Body Mass Index Quantitative Trait Locus 12 45
1758 c BDY011 Body Mass Index Quantitative Trait Locus 10 44
1759 GST004 Gastric Neuroendocrine Neoplasm 44
1760 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
1761 CRN055 Carney Triad 44
1762 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
1763 BCH003 Boucher-Neuhauser Syndrome 43
1764 c OVR058 Ovarian Small Cell Carcinoma 43
1765 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 43
1766 TST004 Testicular Lymphoma 43
1767 c BDY006 Body Mass Index Quantitative Trait Locus 8 43
1768 c BDY012 Body Mass Index Quantitative Trait Locus 7 43
1769 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 43
1770 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
1771 ISL015 Isolated Growth Hormone Deficiency, Type Ib 42
1772 c CNG379 Congenital Disorder of Glycosylation, Type It 42
1773 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
1774 c HYP290 Hypobetalipoproteinemia, Familial, 2 42
1775 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 42
1776 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
1777 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
1778 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 41
1779 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
1780 GBL002 Goblet Cell Carcinoid 40
1781 DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 40
1782 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
1783 CHR704 Chromosome 16p11.2 Deletion Syndrome 40
1784 c HYP881 Hypogonadotropic Hypogonadism 24 with or Without Anosmia 40
1785 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
1786 OBS081 Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 40
1787 OVR026 Ovary Transitional Cell Carcinoma 40
1788 ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 39
1789 SML041 Small-Cell Carcinoma of the Ovary of Hypercalcemic Type 39
1790 P SPR013 Spiradenoma 39
1791 OVR011 Ovarian Mucinous Adenocarcinoma 38
1792 c PLL017 Pallister-Hall-Like Syndrome 38
1793 c BDY007 Body Mass Index Quantitative Trait Locus 1 38
1794 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
1795 ISL122 Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia 37
1796 FML285 Familial Apolipoprotein C-Ii Deficiency 37
1797 BLD050 Bladder Urachal Carcinoma 36
1798 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
1799 P NRL038 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 36
1800 OVR123 Ovarian Seromucinous Carcinoma 36
1801 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
1802 c LPD030 Lipodystrophy, Familial Partial, Type 5 36
1803 TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 36
1804 c PSD080 Pseudohypoaldosteronism Type 1 36
1805 P OVR010 Ovarian Brenner Tumor 35
1806 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1807 NVL003 Nivelon-Nivelon-Mabille Syndrome 35
1808 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
1809 P BNG002 Benign Meningioma 35
1810 OVR051 Ovarian Endodermal Sinus Tumor 35
1811 HYP249 Hyperthyroidism, Nonautoimmune 34
1812 DTH005 Diethylstilbestrol Syndrome 34
1813 PNC002 Pancreatic Mucinous Cystadenoma 34
1814 BLD173 Bladder Small Cell Carcinoma 34
1815 OVR062 Ovary Serous Adenocarcinoma 34
1816 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
1817 OVR050 Ovarian Embryonal Carcinoma 34
1818 c PSD093 Pseudohypoaldosteronism, Type Iid 33
1819 c HYP839 Hyperlipidemia, Familial Combined, 1 32
1820 PLS002 Peliosis Hepatis 32
1821 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1822 P KNN002 Kenny-Caffey Syndrome 32
1823 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 32
1824 c FML355 Familial Intrahepatic Cholestasis 31
1825 OVR060 Ovary Epithelial Cancer 31
1826 OVR005 Ovarian Large-Cell Neuroendocrine Carcinoma 31
1827 c LCL022 Localized Lipodystrophy 30
1828 PTT047 Pituitary Hormone Deficiency, Combined, 3 29
1829 c PLY176 Polycystic Kidney Disease 4 29
1830 PNL023 Penile Agenesis 29
1831 THY106 Thyroglossal Duct Cyst, Familial 29
1832 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 29
1833 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 29
1834 c PSD104 Pseudohypoparathyroidism, Type Ii 29
1835 c MLG036 Malignant Spiradenoma 29
1836 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 28
1837 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
1838 c NRL039 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 28
1839 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
1840 PNC014 Pancreatic Serous Cystadenocarcinoma 27
1841 c PSD068 Pseudohypoaldosteronism, Type Iic 27
1842 ILL008 Ileal Neuroendocrine Tumor 27
1843 GMM004 Gamma-Amino Butyric Acid Metabolism Disorder 27
1844 FML211 Familial Papillary or Follicular Thyroid Carcinoma 27
1845 MTC025 Mitochondrial Myopathy with Diabetes 27
1846 c PSD094 Pseudohypoaldosteronism, Type Iib 26
1847 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
1848 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
1849 P OBS015 Obesity, Hyperphagia, and Developmental Delay 25
1850 OVR103 Ovarian Endometrial Cancer 25
1851 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
1852 INT041 Intratubular Embryonal Carcinoma 25
1853 c PRD022 Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 24
1854 P VTM003 Vitamin Metabolic Disorder 24
1855 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1856 c PLY141 Polycystic Kidney Disease 5 24
1857 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
1858 c PRM209 Primary Trimethylaminuria 23
1859 c CHL191 Cholestasis, Progressive Familial Intrahepatic, 10 23
1860 PNC007 Pancreas Lymphoma 22
1861 c TRN053 Transient Pseudohypoaldosteronism 22
1862 c CHL188 Cholestasis, Progressive Familial Intrahepatic, 8 22
1863 c CHL190 Cholestasis, Progressive Familial Intrahepatic, 9 21
1864 SHR077 Short Stature-Delayed Bone Age Due to Thyroid Hormone Metabolism Deficiency 20
1865 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
1866 c CHL186 Cholestasis, Progressive Familial Intrahepatic, 6 19
1867 c CHL193 Cholestasis, Progressive Familial Intrahepatic, 12 18
1868 c PLY189 Polycystic Kidney Disease 7 18
1869 FNC065 Functioning Neuroendocrine Tumor of Pancreas 18
1870 c SM1001 Sim1-Related Prader-Willi-Like Syndrome 17
1871 OVR004 Ovary Neuroendocrine Neoplasm 16
1872 OVR033 Ovary Papillary Carcinoma 16
1873 6Q1002 6q16 Microdeletion Syndrome 16
1874 ADR047 Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone 16
1875 DGS008 Digestive System Melanoma 16
1876 c CMP100 Campomelic Dysplasia and Related Disorders 16
1877 c CHL192 Cholestasis, Progressive Familial Intrahepatic, 11 16
1878 c TST017 Testicular Malignant Germ Cell Cancer 15
1879 c HYP842 Hyperlipidemia, Familial Combined, 2 14
1880 XLN112 X-Linked Intellectual Disability, Cilliers Type 14
1881 DMN034 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 12
1882 c DSR027 Disorders of Vitamin D Metabolism 12
1883 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
1884 SPN082 Spina Bifida Hypospadias 12
1885 c GL3002 Gli3-Related Pallister-Hall Syndrome 11
1886 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
1887 c APB002 Apob-Related Familial Hypobetalipoproteinemia 11
1888 c BDY009 Body Mass Index Quantitative Trait Locus 3 10
1889 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 10
1890 MXD054 Mixed Neuroendocrine and Non-Neuroendocrine Neoplasm of Pancreas 10
1891 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 10
1892 c BDY016 Body Mass Index Quantitative Trait Locus 13 9
1893 c CNG628 Congenital Disorder of Glycosylation Iw 9
1894 c BDY008 Body Mass Index Quantitative Trait Locus 2 8
1895 c BDY018 Body Mass Index Quantitative Trait Locus 15 8
1896 c BDY013 Body Mass Index Quantitative Trait Locus 5 8
1897 c BDY014 Body Mass Index Quantitative Trait Locus 6 8
1898 P DSR041 Disorder of Multiple Glycosylation 6
1899 c ERL064 Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome 5
1900 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
1901 GLN005 Glandular-Alveolar Pattern Testicular Yolk Sac Tumor 5
1902 c 46X077 46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue 5
1903 END005 Endodermal Sinus Pattern Testicular Yolk Sac Tumor 4
1904 c 46X073 46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect 4
1905 c ACT243 Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor 3
1906 P ATX030 Ataxia-Telangiectasia 81
1907 PHN003 Phenylketonuria 76
1908 c PNC108 Pancreatitis, Hereditary 70
1909 c MCP052 Mucopolysaccharidosis, Type Vi 70
1910 LPD012 Lipoid Congenital Adrenal Hyperplasia 70
1911 c MCR256 Microphthalmia, Syndromic 9 68
1912 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 67
1913 VLV032 Vulva Cancer 66
1914 c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 65
1915 CYS013 Cystinuria 65
1916 c CNG006 Congenital Hypothyroidism 64
1917 P SHR029 Short Syndrome 63
1918 PRL009 Prolactinoma 63
1919 P PRD006 Prader-Willi Syndrome 62
1920 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62
1921 c SML009 Small Intestine Adenocarcinoma 61
1922 LCT022 Lecithin:cholesterol Acyltransferase Deficiency 60
1923 c MCR241 Microphthalmia, Syndromic 3 59
1924 RNL051 Renal Cysts and Diabetes Syndrome 58
1925 P AXN002 Axenfeld-Rieger Syndrome 57
1926 FRS002 Frasier Syndrome 57
1927 c RBN021 Rubinstein-Taybi Syndrome 1 57
1928 FML063 Familial Glucocorticoid Deficiency 57
1929 c PTT056 Pituitary Adenoma 1, Multiple Types 55
1930 c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 55
1931 ISL001 Islet Cell Tumor 54
1932 CLL036 Culler-Jones Syndrome 53
1933 c MCR261 Microphthalmia, Syndromic 2 52
1934 GLY031 Glycoproteinosis 52
1935 c MCR263 Microphthalmia, Syndromic 1 51
1936 EPT010 Epithelial-Myoepithelial Carcinoma 51
1937 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 51
1938 P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51
1939 c MCR251 Microphthalmia, Syndromic 6 50
1940 OHD005 Ohdo Syndrome, Sbbys Variant 50
1941 c XNT010 Xanthinuria, Type I 50
1942 c AXN010 Axenfeld-Rieger Syndrome, Type 3 50
1943 c ATM024 Autoimmune Pancreatitis 48
1944 OVR059 Ovary Adenocarcinoma 48
1945 OVR112 Ovarian Germ Cell Cancer 48
1946 P XNT004 Xanthinuria 47
1947 GLC022 Glucose/galactose Malabsorption 47
1948 c MCR245 Microphthalmia, Syndromic 8 46
1949 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1950 c HYP349 Hyperinsulinemic Hypoglycemia, Familial, 7 46
1951 IMM179 Immunodeficiency 31c 46
1952 BTT018 Beta-Thalassemia Intermedia 45
1953 c SHR030 Short Qt Syndrome 44
1954 ADR051 Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency 44
1955 P PRR025 Perrault Syndrome 43
1956 c MCR252 Microphthalmia, Syndromic 5 43
1957 SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 43
1958 c MCR212 Microphthalmia, Syndromic 12 42
1959 c AXN009 Axenfeld-Rieger Syndrome, Type 1 42
1960 ADR022 Adrenomyeloneuropathy 42
1961 c XNT011 Xanthinuria, Type Ii 40
1962 c FML294 Familial Short Qt Syndrome 40
1963 c MCR312 Microphthalmia, Syndromic 10 40
1964 KRK001 Krukenberg Carcinoma 40
1965 c PSD117 Pseudohypoparathyroidism, Type Ic 38
1966 c DNT021 Dent Disease 2 38
1967 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 38
1968 c LYD012 Leydig Cell Hypoplasia, Type I 37
1969 c PRR020 Perrault Syndrome 1 37
1970 ONC003 Oncogenic Osteomalacia 37
1971 ANT042 Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 36
1972 PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34
1973 P SYN165 Syndromic Microphthalmia 34
1974 c MCR228 Microphthalmia, Syndromic 13 33
1975 CHR075 Choriocarcinoma of Ovary 31
1976 EMB006 Embryonal Testis Carcinoma 31
1977 c PRR021 Perrault Syndrome 4 31
1978 c MCR392 Microphthalmia, Syndromic 16 30
1979 c SHR032 Short Qt Syndrome 2 30
1980 c SHR033 Short Qt Syndrome 3 29
1981 MCN020 Mucinous Cystadenocarcinoma of Pancreas 28
1982 c PRR024 Perrault Syndrome 3 27
1983 c SHR031 Short Qt Syndrome 1 27
1984 PLY115 Polyendocrine-Polyneuropathy Syndrome 26
1985 PRM205 Primary Hepatic Neuroendocrine Carcinoma 26
1986 c PRR022 Perrault Syndrome 2 26
1987 c HYP831 Hyperparathyroidism, Transient Neonatal 26
1988 c AXN012 Axenfeld-Rieger Syndrome, Type 2 25
1989 c PRR026 Perrault Syndrome 5 25
1990 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 24
1991 THY065 Thyroid Carcinoma, Papillary, with Papillary Renal Neoplasia 24
1992 NRN033 Neuroendocrine Tumor of the Colon 24
1993 c MCR217 Microphthalmia, Syndromic 11 23
1994 c PRR033 Perrault Syndrome 6 21
1995 JJN009 Jejunal Neuroendocrine Tumor 20
1996 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 20
1997 P RBN007 Rubinstein Taybi Like Syndrome 19
1998 HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 18
1999 P LRG016 Large Intestine Adenocarcinoma 16
2000 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 16
2001 CLS027 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form 10
2002 CHL026 Childhood Ovarian Embryonal Carcinoma 8
2003 CHL043 Childhood Embryonal Testis Carcinoma 8
2004 CHL048 Childhood Teratocarcinoma of the Testis 6
2005 LPT014 Leptin Deficiency or Dysfunction 78
2006 MCC012 Mccune-Albright Syndrome 71
2007 SMT004 Smith-Lemli-Opitz Syndrome 69
2008 CHR346 Chromosome 22q11.2 Deletion Syndrome, Distal 67
2009 ALS001 Alstrom Syndrome 66
2010 LPD008 Lipid Metabolism Disorder 65
2011 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64
2012 DFF019 Diffuse Gastric Cancer 62
2013 FRC011 Fructose Intolerance, Hereditary 59
2014 PTT007 Pituitary Cancer 59
2015 RBF001 Riboflavin Deficiency 58
2016 VRG001 Variegate Porphyria 57
2017 c GLC111 Galactosemia Ii 55
2018 ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 54
2019 P MRT010 Martsolf Syndrome 1 53
2020 c 46X082 46,xy Sex Reversal 50
2021 49X006 49, Xxxxy Syndrome 45
2022 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 45
2023 ARM001 Aromatase Deficiency 43
2024 PNC019 Pancreatoblastoma 42
2025 c KNN007 Kenny-Caffey Syndrome, Type 2 41
2026 c RBN008 Rubinstein-Taybi Syndrome 2 40
2027 MHV001 Mahvash Disease 38
2028 MCH011 Meacham Syndrome 35
2029 CHN077 Chung-Jansen Syndrome 34
2030 TST018 Testicular Yolk Sac Tumor 34
2031 URC006 Urocanase Deficiency 33
2032 KPP002 Keppen-Lubinsky Syndrome 32
2033 LRY013 Laryngeal Neuroendocrine Tumor 32
2034 LPP002 Lipoprotein Glomerulopathy 31
2035 IDP085 Idiopathic Infantile Hypercalcemia 29
2036 CHR713 Chromosome Xq21 Deletion Syndrome 27
2037 SML004 Small Intestine Neuroendocrine Neoplasm 24
2038 c MRT011 Martsolf Syndrome 2 22
2039 ECT069 Ectodermal Dysplasia 8, Hair/tooth/nail Type 20
2040 CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 18
2041 PRM377 Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome 4
2042 P NNN008 Noonan Syndrome 1 76
2043 VNH007 Von Hippel-Lindau Syndrome 73
2044 c MLT156 Multiple Endocrine Neoplasia, Type I 72
2045 P SRC025 Sarcoidosis 1 71
2046 FBR012 Fabry Disease 71
2047 c BTT014 Beta-Thalassemia 70
2048 DFF043 Diffuse Gastric and Lobular Breast Cancer Syndrome 68
2049 c PSD108 Pseudohypoparathyroidism, Type Ia 67
2050 c HYP794 Hyperoxaluria, Primary, Type I 64
2051 c ALP101 Alpha-Thalassemia 63
2052 CRN036 Craniopharyngioma 62
2053 P THL005 Thalassemia 62
2054 ALK013 Alkaptonuria 61
2055 P PRM002 Primary Hyperoxaluria 60
2056 c PSD066 Pseudohypoparathyroidism, Type Ib 56
2057 LRN001 Laurence-Moon Syndrome 56
2058 P PSD015 Pseudohypoparathyroidism 55
2059 P HYP260 Hypophosphatemic Rickets, Autosomal Dominant 54
2060 ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 54
2061 VPM001 Vipoma 52
2062 c HYP603 Hyperoxaluria, Primary, Type Iii 52
2063 c NNN010 Noonan Syndrome 3 52
2064 c HYP602 Hyperoxaluria, Primary, Type Ii 50
2065 c SRC023 Sarcoidosis 2 50
2066 MHM001 Mehmo Syndrome 49
2067 INT449 Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type 49
2068 PYR037 Pyruvate Carboxylase Deficiency 48
2069 c NNN009 Noonan Syndrome 2 44
2070 c NNN012 Noonan Syndrome 5 42
2071 ADR048 Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 42
2072 VNS015 Van Esch-O'driscoll Syndrome 41
2073 c NNN021 Noonan Syndrome 8 40
2074 c NNN011 Noonan Syndrome 4 40
2075 c NNN020 Noonan Syndrome 7 38
2076 c NNN025 Noonan Syndrome 10 36
2077 c NNN013 Noonan Syndrome 6 36
2078 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 35
2079 MNT318 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome 35
2080 c NNN024 Noonan Syndrome 9 33
2081 c NNN034 Noonan Syndrome 12 33
2082 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 31
2083 c NNN036 Noonan Syndrome 13 31
2084 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 31
2085 STY001 Satoyoshi Syndrome 31
2086 SHR124 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures 31
2087 c NNN029 Noonan Syndrome 11 30
2088 c ATS481 Autosomal Dominant Beta Thalassemia 27
2089 c NNN038 Noonan Syndrome 14 24
2090 c SRC024 Sarcoidosis 3 18
2091 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
2092 c ALP113 Alpha-Thalassemia and Related Disorders 8
2093 c BTT015 Beta-Thalassemia and Related Diseases 7
2094 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
2095 c MCP001 Mucopolysaccharidosis Iii 67
2096 P GLC113 Galactosemia I 66
2097 c MCP047 Mucopolysaccharidosis, Type Iva 65
2098 c MCP049 Mucopolysaccharidosis, Type Vii 65
2099 c MCP043 Mucopolysaccharidosis, Type Iiia 64
2100 c LPD015 Lipodystrophy, Familial Partial, Type 2 63
2101 c MCP044 Mucopolysaccharidosis, Type Iiib 62
2102 c MCP045 Mucopolysaccharidosis, Type Iiic 61
2103 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 59
2104 BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 58
2105 PSD014 Pseudopseudohypoparathyroidism 57
2106 c MCP048 Mucopolysaccharidosis, Type Ivb 56
2107 c MCP046 Mucopolysaccharidosis, Type Iiid 55
2108 c GLC112 Galactosemia Iii 53
2109 c MCP051 Mucopolysaccharidosis, Type Ix 42
2110 c MND002 Mandibuloacral Dysplasia with Type B Lipodystrophy 38
2111 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 33
2112 c GLC115 Galactosemia Iv 30
2113 c MCP055 Mucopolysaccharidosis, Type X 26
2114 P TRN020 Turner Syndrome 70
2115 P DNT020 Dent Disease 1 63
2116 HYP880 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 59
2117 DNY001 Denys-Drash Syndrome 59
2118 IMM246 Immunoglobulin Light Chain Amyloidosis 57
2119 c PSD047 Pseudo-Turner Syndrome 50
2120 GRD009 Gordon Holmes Syndrome 49
2121 NST002 Nestor-Guillermo Progeria Syndrome 37
2122 CHR103 Charge Syndrome 66



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