Gastrointestinal Diseases Category (1582 diseases)


Including: GI tract, Digestive, Gut, Colon, Stomach, Enterogastric
See other categories (disease lists)

# Family MCID Name MIFTS
1 GST053 Gastric Cancer 78
2 VSC044 Visceral Myopathy 52
3 c INT072 Intestinal Pseudo-Obstruction 57
4 GST023 Gastric Ulcer 58
5 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 48
6 GST019 Gastrointestinal Stromal Tumor 74
7 GST013 Gastrojejunal Ulcer 25
8 ATR015 Atresia of Small Intestine 16
9 PTZ001 Peutz-Jeghers Syndrome 70
10 P JVN014 Juvenile Polyposis Syndrome 61
11 c JVN034 Juvenile Polyposis of Infancy 21
12 GST095 Gastritis, Familial Giant Hypertrophic 37
13 PRG017 Paraganglioma and Gastric Stromal Sarcoma 40
14 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 38
15 ESN014 Eosinophilic Enteropathy 36
16 PRN019 Perinatal Necrotizing Enterocolitis 58
17 CHR515 Chronic Atrial and Intestinal Dysrhythmia 34
18 GST092 Gastroesophageal Reflux 66
19 STM006 Stomach Disease 56
20 AGN004 Aganglionosis, Total Intestinal 20
21 P CLC063 Celiac Disease 1 72
22 c PRM158 Primary Intestinal Lymphangiectasia 32
23 GST026 Gastric Fundus Cancer 11
24 P GST044 Gastritis 61
25 ESN005 Eosinophilic Gastroenteritis 54
26 CLN045 Colonic Benign Neoplasm 48
27 P HRS035 Hirschsprung Disease 1 66
28 GST020 Gastric Antral Vascular Ectasia 39
29 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 16
30 GST045 Gastroenteritis 65
31 GST037 Gastroparesis 59
32 CHR280 Chronic Erosive Gastritis 29
33 P FML321 Familial Stomach Cancer 7
34 GST050 Gastrointestinal System Disease 67
35 GST030 Gastrinoma 43
36 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 20
37 GST004 Gastric Neuroendocrine Neoplasm 46
38 LYM047 Lymphoma, Gastric Non Hodgkins Type 4
39 INT253 Intestinal Benign Neoplasm 57
40 CLN019 Colonic Disease 62
41 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 52
42 ATN011 Autoinflammation with Infantile Enterocolitis 43
43 GST051 Gastrointestinal Tuberculosis 31
44 P INT006 Intestinal Botulism 25
45 ENT006 Enterokinase Deficiency 23
46 P ATR005 Atrophic Gastritis 49
47 PRT019 Protein-Losing Enteropathy 41
48 DSC005 Descending Colon Cancer 34
49 DDN002 Duodenal Gastrinoma 33
50 ASC004 Ascending Colon Cancer 31
51 c ADL069 Adult Intestinal Botulism 20
52 CRN283 Cornea Guttata with Anterior Polar Cataracts 14
53 P INT068 Intestinal Disease 62
54 CLN004 Colon Carcinoma in Situ 39
55 CHR557 Chronic Intestinal Pseudoobstruction 37
56 DVR001 Diverticulitis of Colon 37
57 CLN009 Colon Squamous Cell Carcinoma 29
58 ADN006 Adenosquamous Colon Carcinoma 17
59 ATM077 Autoimmune Gastrointestinal Dysmotility 14
60 ACT060 Acute Vascular Insufficiency of Intestine 42
61 ENT003 Enterobiasis 40
62 TRN003 Transverse Colon Cancer 34
63 SML039 Small Intestine Benign Neoplasm 25
64 NRN033 Neuroendocrine Tumor of the Colon 20
65 GST057 Gastro-Enteropancreatic Neuroendocrine Tumor 17
66 NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 4
67 c CNG411 Congenital Disorder of Glycosylation, Type in 65
68 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
69 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
70 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
71 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
72 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
73 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
74 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
75 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
76 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
77 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
78 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
79 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
80 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
81 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
82 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
83 INT046 Intestinal Tuberculosis 37
84 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
85 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
86 c CNG379 Congenital Disorder of Glycosylation, Type It 33
87 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
88 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
89 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
90 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
91 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
92 c CNG188 Congenital Disorder of Glycosylation, Type if 30
93 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
94 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
95 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
96 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
97 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
98 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
99 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
100 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
101 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
102 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
103 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
104 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
105 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
106 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
107 GST009 Gastroschisis 56
108 CRY003 Cryptosporidiosis 53
109 INT051 Intussusception 51
110 INF006 Infant Botulism 50
111 ANG011 Angiodysplasia 48
112 GST028 Gastric Squamous Cell Carcinoma 44
113 INT052 Intestinal Volvulus 43
114 KPR002 Kapur-Toriello Syndrome 26
115 c STM003 Stomach Carcinoma in Situ 19
116 c CLC048 Celiac Disease 3 15
117 c CLC037 Celiac Disease 4 15
118 c CLC039 Celiac Disease 13 15
119 c MLG024 Malignant Gastric Teratoma 11
120 CNG480 Congenital Diarrhea 7 with Exudative Enteropathy 11
121 MCR011 Microinvasive Gastric Cancer 47
122 SML008 Small Intestine Lymphoma 45
123 CLN005 Colon Lymphoma 33
124 ALC012 Alcoholic Gastritis 32
125 SML004 Small Intestine Neuroendocrine Neoplasm 29
126 LPM002 Lipoma of Colon 21
127 ENT016 Enterovesical Fistula 19
128 GST087 Gastric Linitis Plastica 16
129 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 14
130 GST031 Gastric Gastrinoma 14
131 CLN008 Colon Small Cell Carcinoma 13
132 CLN010 Colonic Lymphangioma 11
133 GST025 Gastric Body Carcinoma 10
134 MST008 Mastocytic Enterocolitis 10
135 CVR004 Cavernous Hemangioma of Colon 10
136 SML007 Small Intestinal Vasoactive Intestinal Peptide Producing Tumor 7
137 LBN005 Lubani-Al Saleh-Teebi Syndrome 7
138 CNG260 Congenital Enterovirus Infection 6
139 ULC004 Ulcerative Colitis 80
140 IRR002 Irritable Bowel Syndrome 64
141 MCN017 Meconium Ileus 56
142 P SHR001 Short Bowel Syndrome 52
143 PPT001 Peptic Esophagitis 45
144 ENT001 Enterocele 42
145 GTT002 Guttate Psoriasis 37
146 ABD010 Abdominal Wall Defect 35
147 c ATM060 Autoimmune Atrophic Gastritis 25
148 P GST043 Gastric Teratoma 18
149 c CLC046 Celiac Disease 5 14
150 CLL026 Collagenous Gastritis 14
151 c CLC038 Celiac Disease 10 14
152 c CLC045 Celiac Disease 2 14
153 c CLC040 Celiac Disease 6 14
154 c CLC043 Celiac Disease 11 13
155 c CLC041 Celiac Disease 7 13
156 c CLC042 Celiac Disease 9 13
157 c CLC044 Celiac Disease 12 13
158 c CLC047 Celiac Disease 8 13
159 c SCN046 Secondary Short Bowel Syndrome 6
160 SHG001 Shigellosis 59
161 P INF037 Inflammatory Bowel Disease 56
162 P INT070 Intestinal Obstruction 55
163 GST071 Gastrointestinal Carcinoma 46
164 CLN044 Colon Adenoma 41
165 SML014 Small Intestine Leiomyosarcoma 40
166 c CNG413 Congenital Short Bowel Syndrome 39
167 P ATM020 Autoimmune Enteropathy 39
168 STR094 Stromme Syndrome 37
169 c INF092 Inflammatory Bowel Disease 9 35
170 SML015 Small Intestinal Sarcoma 34
171 c INF087 Inflammatory Bowel Disease 4 33
172 CNG016 Congenital Intrinsic Factor Deficiency 33
173 c INF086 Inflammatory Bowel Disease 3 30
174 c INF089 Inflammatory Bowel Disease 6 27
175 CLN022 Colonic Atresia 26
176 c INF088 Inflammatory Bowel Disease 5 25
177 c INF075 Inflammatory Bowel Disease 16 25
178 c INF078 Inflammatory Bowel Disease 2 24
179 c INF072 Inflammatory Bowel Disease 11 21
180 c INF162 Inflammatory Bowel Disease 25 20
181 c INF090 Inflammatory Bowel Disease 7 20
182 c INF079 Inflammatory Bowel Disease 20 18
183 LRG015 Large Intestine Adenoma 17
184 c INF073 Inflammatory Bowel Disease 12 15
185 c INF080 Inflammatory Bowel Disease 21 15
186 LRG007 Large Intestine Lipoma 14
187 c INF091 Inflammatory Bowel Disease 8 14
188 CLN012 Colon Leiomyosarcoma 14
189 c INF076 Inflammatory Bowel Disease 18 13
190 c INF083 Inflammatory Bowel Disease 24 12
191 c INF084 Inflammatory Bowel Disease 26 12
192 c INF082 Inflammatory Bowel Disease 23 12
193 c INF085 Inflammatory Bowel Disease 27 12
194 CLN007 Colon Kaposi Sarcoma 12
195 c INF081 Inflammatory Bowel Disease 22 12
196 c INF074 Inflammatory Bowel Disease 15 12
197 SML006 Small Intestine Leiomyoma 12
198 c INF161 Inflammatory Bowel Disease 28 11
199 CLN018 Colon Sarcoma 10
200 MTR006 Mature Gastric Teratoma 9
201 SML012 Small Bowel Fibrosarcoma 9
202 GST018 Gastrointestinal Tularemia 8
203 CLR108 Colorectal Adenoma 64
204 MCS002 Mucositis 60
205 ENT011 Enterocolitis 55
206 CLS016 Clostridium Difficile Colitis 52
207 INT017 Intestinal Schistosomiasis 50
208 MGC001 Megacolon 50
209 INT071 Intestinal Perforation 45
210 ESN004 Eosinophilic Gastritis 45
211 CRD005 Cardia Cancer 44
212 EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 42
213 GST041 Gastric Cardia Carcinoma 35
214 CLN006 Colonic Pseudo-Obstruction 35
215 GST008 Gastric Adenosquamous Carcinoma 34
216 GST036 Gastric Leiomyosarcoma 34
217 GST006 Gastric Leiomyoma 32
218 GST007 Gastric Dilatation 32
219 HYP572 Hypoganglionosis 31
220 GST015 Gastric Small Cell Carcinoma 30
221 FNC005 Functional Colonic Disease 29
222 PLY073 Polyposis, Gastric 26
223 VLV047 Volvulus of Midgut 23
224 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 21
225 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 19
226 DNT004 Dientamoebiasis 17
227 INT302 Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 16
228 CNG508 Congenital Corneal Opacities, Cornea Guttata, and Corectopia 13
229 UND009 Undifferentiated Carcinoma of Stomach 13
230 CSC001 Cascade Stomach 12
231 GST011 Gastric Liposarcoma 11
232 GST005 Gastric Hemangioma 11
233 CLN014 Colon Neuroendocrine Neoplasm 11
234 CLN011 Colon Leiomyoma 10
235 CRC038 Carcinoma of Stomach, Salivary Gland Type 8
236 PDT044 Pediatric Collagenous Gastritis 8
237 GST101 Gastric Sneezing 8
238 SML005 Small Intestine Diverticulitis 7
239 PLY151 Polyposis, Intestinal, Scattered and Discrete 7
240 GST003 Gastrin Secretion Abnormality 6
241 GST022 Gastric Pylorus Carcinoma 6
242 MLG066 Malignant Gastric Germ Cell Tumor 6
243 INT252 Intestinal Neuroendocrine Benign Tumor 6
244 MLG044 Malignant Gastric Granular Cell Tumor 5
245 STM002 Stomach Diverticulosis 5
246 NNH007 Non-Hypoproteinemic Hypertrophic Gastropathy 5
247 SML024 Small Intestine Cancer, Childhood 3
248 FTL017 Fetal Enterovirus Syndrome 3
249 PPT005 Peptic Ulcer Disease 64
250 c INF071 Inflammatory Bowel Disease 1 57
251 CCC002 Coccidiosis 50
252 c ATM101 Autoimmune Gastritis 46
253 BLN006 Blind Loop Syndrome 43
254 DRR005 Diarrhea 4, Malabsorptive, Congenital 35
255 CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 18
256 INT314 Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 17
257 c DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 15
258 c BCT005 Bacterial Gastritis 13
259 c VRL009 Viral Gastritis 8
260 HRP003 Herpetic Gastritis 6
261 FNG002 Fungal Gastritis 5
262 P INF038 Influenza 75
263 HLC007 Helicobacter Pylori Infection 66
264 P DRR001 Diarrhea 58
265 P LCT002 Lactose Intolerance 47
266 DMP001 Dumping Syndrome 46
267 DVR002 Diverticulitis 46
268 DYS015 Dysentery 45
269 INT060 Intestinal Atresia 41
270 VLL006 Villous Adenoma 40
271 LNT001 Linitis Plastica 35
272 P NRN029 Neuronal Intestinal Dysplasia 31
273 GST048 Gastrointestinal System Benign Neoplasm 30
274 c INT019 Intestine Carcinoma in Situ 30
275 c HRS036 Hirschsprung Disease 2 29
276 GST090 Gastroduodenal Crohn's Disease 27
277 c DRR009 Diarrhea 6 23
278 c CNG478 Congenital Diarrhea 22
279 ATM015 Autoimmune Disease of Gastrointestinal Tract 21
280 MRT009 Martinez-Frias Syndrome 20
281 APH015 Aphalangy with Hemivertebrae 18
282 c HRS029 Hirschsprung Disease 4 17
283 INT043 Intestinal Disaccharidase Deficiency 15
284 c INF170 Inflammatory Bowel Disease 29 14
285 P DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 14
286 c DRR018 Diarrhea 9 13
287 GST046 Gastrointestinal Anthrax 13
288 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 12
289 c INF136 Influenza, Severe 9
290 END008 Endometriosis of Intestine 8
291 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 5
292 MDL026 Medullary Colon Carcinoma 5
293 P CTS001 Cutis Laxa 62
294 ESP023 Esophageal Disease 59
295 ACT058 Active Peptic Ulcer Disease 53
296 PRT002 Paratyphoid Fever 53
297 P DDN001 Duodenal Ulcer 52
298 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
299 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
300 ASP007 Aspiration Pneumonia 46
301 RDT013 Radiation Proctitis 46
302 DDN006 Duodenitis 43
303 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 42
304 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
305 c ACT004 Acute Diarrhea 39
306 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
307 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
308 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
309 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 36
310 CHR067 Chronic Intestinal Vascular Insufficiency 35
311 ESP029 Esophageal Atresia/tracheoesophageal Fistula 35
312 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
313 PNM003 Pneumatosis Cystoides Intestinalis 34
314 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
315 LYM015 Lymphocytic Gastritis 32
316 GST039 Gastroduodenitis 31
317 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 31
318 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
319 APP018 Appendix Disease 30
320 c ACQ027 Acquired Cutis Laxa 30
321 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
322 GRN011 Granulomatous Gastritis 29
323 ENT007 Enteropathica 29
324 YSY001 Yao Syndrome 29
325 INT050 Intestinal Impaction 27
326 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
327 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
328 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
329 FNC006 Functional Gastric Disease 25
330 c LCT011 Lactose Intolerance, Adult Type 24
331 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 24
332 c CHR464 Chronic Intestinal Failure 23
333 GST014 Gastrointestinal Lymphoma 23
334 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 22
335 c ATP003 Atp6v0a2-Related Cutis Laxa 21
336 c INF077 Inflammatory Bowel Disease 19 21
337 GST038 Gastrointestinal Adenoma 20
338 c INF160 Inflammatory Bowel Disease 17 19
339 PLY153 Polyposis of Gastric Fundus Without Polyposis Coli 19
340 c HRS027 Hirschsprung Disease 5 19
341 NKC001 Nk-Cell Enteropathy 18
342 c INF067 Inflammatory Bowel Disease 10 17
343 c INF068 Inflammatory Bowel Disease 13 17
344 c SCN043 Secondary Intestinal Lymphangiectasia 16
345 c INF093 Inflammatory Bowel Disease 14 16
346 c NRN038 Neuronal Intestinal Dysplasia, Type B 16
347 c LTB003 Ltbp4-Related Cutis Laxa 16
348 ACQ006 Acquired Gastric Outlet Stenosis 15
349 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
350 c EFM001 Efemp2-Related Cutis Laxa 14
351 c HRS025 Hirschsprung Disease 8 14
352 c HRS028 Hirschsprung Disease 6 14
353 c HRS026 Hirschsprung Disease 7 14
354 c HRS024 Hirschsprung Disease 9 14
355 NCR005 Necrotizing Gastritis 14
356 GST055 Gastric Duplication Cysts 12
357 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 12
358 CNG363 Congenital Enterocyte Heparan Sulfate Deficiency 11
359 c DDN013 Duodenal Ulcer Due to Antral G-Cell Hyperfunction 11
360 DVR008 Diverticulosis, Small-Intestinal 11
361 HMN039 Hemangiomas of Small Intestine 10
362 CLN023 Colonic Malakoplakia 10
363 CLN048 Colonic Varices Without Portal Hypertension 9
364 PRT022 Protozoal Dysentery 9
365 c FBL003 Fbln5-Related Cutis Laxa 8
366 ANG012 Angiodysplasia of Intestine 8
367 PLY154 Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal 8
368 GST102 Gastric Volvulus, Intrathoracic 8
369 LRG006 Large Bowel Leiomyoma 8
370 UNC010 Unclassified Intestinal Pseudoobstruction 7
371 DGS006 Digestive Duplication Cyst of the Tongue 7
372 CNG535 Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome 7
373 PLY152 Polyposis, Intestinal, with Multiple Exostoses 7
374 BNG088 Benign Infantile Seizures Associated with Mild Gastroenteritis 6
375 PRN015 Perinatal Intestinal Perforation 6
376 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
377 SML013 Small Intestinal L-Cell Glucagon-Like Peptide Producing Tumor 5
378 CLN013 Colonic L-Cell Glucagon-Like Peptide Producing Tumor 5
379 INV020 Invasive Infections Due to Vancomycin-Resistant Enterococci 5
380 MYP066 Myopathic Intestinal Pseudoobstruction 5
381 c PRM296 Primary Autoimmune Enteropathy 4
382 GST104 Gastric Juice Peptides 3
383 ENT009 Enterovirus Antenatal Infection 2
384 ESP021 Esophageal Cancer 84
385 CYS001 Cystic Fibrosis 83
386 SQM013 Squamous Cell Carcinoma, Head and Neck 82
387 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 73
388 P FML011 Familial Adenomatous Polyposis 72
389 P ALG028 Alagille Syndrome 1 71
390 c ATM006 Autoimmune Lymphoproliferative Syndrome 71
391 P CWD010 Cowden Syndrome 69
392 LVR012 Liver Cirrhosis 67
393 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 67
394 c FML346 Familial Adenomatous Polyposis 1 67
395 P PRD008 Periodontitis 66
396 APP008 Appendicitis 66
397 CLT003 Colitis 65
398 P BRD002 Bardet-Biedl Syndrome 65
399 P SHW006 Shwachman-Diamond Syndrome 1 64
400 P BLD062 Bile Duct Cancer 64
401 P LYM033 Lymphoproliferative Syndrome 63
402 GNG013 Gingivitis 63
403 P ESP024 Esophagitis 62
404 ING001 Inguinal Hernia 61
405 P PRT013 Portal Hypertension 61
406 CRH005 Crohn's Colitis 61
407 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 61
408 c BRD014 Bardet-Biedl Syndrome 2 61
409 VSC003 Visceral Leishmaniasis 61
410 P ESP035 Esophagitis, Eosinophilic, 1 60
411 c PRD040 Periodontitis, Chronic 60
412 HPT046 Hepatic Veno-Occlusive Disease 59
413 c MLT159 Multiple Endocrine Neoplasia, Type Iib 59
414 ILT001 Ileitis 59
415 c BRD010 Bardet-Biedl Syndrome 1 58
416 CNS004 Constipation 58
417 P ANG015 Angioedema 58
418 STS003 Sitosterolemia 58
419 c ANG068 Angioedema, Hereditary, Type I 57
420 P MLT074 Multiple Endocrine Neoplasia 56
421 DYS014 Dyspepsia 56
422 P OBS001 Obstructive Jaundice 54
423 GNG012 Gingival Overgrowth 53
424 BLR006 Biliary Tract Disease 53
425 c MLT086 Multiple Endocrine Neoplasia, Type Iv 53
426 P OMP004 Omphalocele 52
427 HPT009 Hepatopulmonary Syndrome 52
428 P CHL066 Cholangitis 52
429 DNT012 Dental Caries 52
430 c BRD012 Bardet-Biedl Syndrome 11 52
431 CHL004 Cholelithiasis 52
432 P SCL009 Sclerosing Cholangitis 51
433 CMP002 Campylobacteriosis 50
434 WHP001 Whipple Disease 50
435 DRR008 Diarrhea 1, Secretory Chloride, Congenital 49
436 PLP001 Pulpitis 49
437 HRN026 Hernia, Hiatus 49
438 c BRD013 Bardet-Biedl Syndrome 12 49
439 PYL006 Pyloric Stenosis 48
440 ANL022 Anal Fistula 48
441 MCR191 Microscopic Colitis 48
442 GLS007 Glossitis 47
443 MGS001 Megaesophagus 47
444 c BRD044 Bardet-Biedl Syndrome 17 47
445 PRD003 Periodontosis 47
446 c BRD016 Bardet-Biedl Syndrome 4 46
447 P HYP009 Hypertrophic Pyloric Stenosis 46
448 PRC003 Proctitis 45
449 c BRD032 Bardet-Biedl Syndrome 14 45
450 GNG003 Gingival Recession 45
451 c BRD011 Bardet-Biedl Syndrome 10 45
452 HYP466 Hyperplastic Polyposis Syndrome 45
453 PRS127 Pearson Marrow-Pancreas Syndrome 44
454 ESP018 Esophageal Candidiasis 44
455 c LYM107 Lymphoproliferative Syndrome 2 44
456 c ACQ012 Acquired Angioedema 44
457 ANS012 Anus Disease 44
458 ILC002 Ileocolitis 44
459 c BRD020 Bardet-Biedl Syndrome 8 43
460 c INT059 Internal Hemorrhoid 43
461 DDN027 Duodenum Disease 43
462 STT004 Steatorrhea 43
463 DYS011 Dyskinesia of Esophagus 42
464 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 42
465 c BRD033 Bardet-Biedl Syndrome 13 42
466 ANK008 Ankyloglossia 42
467 UMB002 Umbilical Hernia 42
468 RCT017 Rectal Disease 42
469 c BRD048 Bardet-Biedl Syndrome 18 42
470 c BRD015 Bardet-Biedl Syndrome 3 41
471 EXT006 Extrahepatic Cholestasis 41
472 TBR008 Tuberculous Peritonitis 41
473 MCK029 Meckel Diverticulum 41
474 PPT002 Peptic Ulcer Perforation 40
475 PRL008 Paralytic Ileus 40
476 c BRD018 Bardet-Biedl Syndrome 6 40
477 c BRD035 Bardet-Biedl Syndrome 15 39
478 JJN008 Jejunoileitis 39
479 c BRD017 Bardet-Biedl Syndrome 5 39
480 c ACT036 Acute Cholangitis 39
481 ACL001 Acalculous Cholecystitis 39
482 RTC003 Root Caries 38
483 CHL039 Choledocholithiasis 37
484 CHL013 Cholecystolithiasis 37
485 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 37
486 HPT006 Hepatic Angiomyolipoma 36
487 PST035 Postgastrectomy Syndrome 36
488 c BRD045 Bardet-Biedl Syndrome 19 36
489 PST030 Postcholecystectomy Syndrome 35
490 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 35
491 DVR006 Diversion Colitis 35
492 ASC003 Ascending Cholangitis 35
493 FNC002 Functional Diarrhea 35
494 SPP003 Suppurative Periapical Periodontitis 34
495 TXC001 Toxic Megacolon 34
496 DNT006 Dental Pulp Necrosis 34
497 c PYL018 Pyloric Stenosis, Infantile Hypertrophic, 1 34
498 FLT009 Folate Malabsorption, Hereditary 34
499 SCR003 Secretory Diarrhea 34
500 BLR004 Biliary Dyskinesia 34
501 CPP003 Cap Polyposis 34
502 c BRD047 Bardet-Biedl Syndrome 16 34
503 CCL002 Cecal Disease 33
504 ATR073 Atrophic Glossitis 33
505 DDN004 Duodenogastric Reflux 33
506 EPS001 Epstein-Barr Virus Hepatitis 32
507 FSS001 Fissured Tongue 32
508 SPP004 Suppurative Cholangitis 32
509 GRN009 Granulomatous Hepatitis 32
510 DDN009 Duodenal Obstruction 31
511 CRT011 Carotenemia 31
512 c LYM106 Lymphoproliferative Syndrome 1 31
513 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 30
514 RFR013 Refractory Celiac Disease 30
515 c BRD019 Bardet-Biedl Syndrome 7 30
516 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 30
517 P HRD144 Hereditary Mixed Polyposis Syndrome 30
518 c CHR013 Chronic Apical Periodontitis 30
519 c ALG016 Alagille Syndrome 2 29
520 MCR014 Microcystic Adenoma 29
521 DRR013 Diarrhea 8, Secretory Sodium, Congenital 28
522 GLL029 Gallbladder Adenoma 28
523 MDN001 Median Rhomboid Glossitis 28
524 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 28
525 ACT062 Acute Pericementitis 27
526 PRC008 Pericholangitis 27
527 JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 27
528 c INF002 Inflammatory Diarrhea 27
529 c ANG045 Angioedema, Hereditary, Type Iii 27
530 DNT010 Dentin Caries 26
531 CPL001 Capillariasis 26
532 c BRD021 Bardet-Biedl Syndrome 9 26
533 PRM190 Periampullary Adenoma 26
534 c BRD050 Bardet-Biedl Syndrome 21 26
535 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 25
536 SQM005 Squamous Papillomatosis 25
537 c LYM151 Lymphoproliferative Syndrome 3 25
538 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 25
539 LCT013 Lactase Deficiency, Congenital 25
540 c CWD008 Cowden Syndrome 6 25
541 PYL002 Pylorospasm 24
542 c CWD004 Cowden Syndrome 5 24
543 OSM001 Osmotic Diarrhea 24
544 c CHR036 Chronic Cholangitis 23
545 ESN022 Eosinophilic Colitis 23
546 CHM005 Chemical Colitis 23
547 LVC002 Levocardia 23
548 c BRD051 Bardet-Biedl Syndrome 20 23
549 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 23
550 c SHW007 Shwachman-Diamond Syndrome 2 23
551 GLL011 Gallbladder Leiomyoma 22
552 FSC003 Fasciolopsiasis 22
553 GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 22
554 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 21
555 ESP001 Esophageal Tuberculosis 21
556 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 21
557 EMP002 Emphysematous Cholecystitis 21
558 c CWD009 Cowden Syndrome 7 20
559 FNG003 Fungal Esophagitis 20
560 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 20
561 ANL006 Anal Paget's Disease 20
562 AFF001 Afferent Loop Syndrome 20
563 MYM015 Moyamoya Disease 6 with or Without Achalasia 19
564 c CWD005 Cowden Syndrome 4 19
565 ANR003 Anorectal Stricture 19
566 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 18
567 c SCN059 Secondary Sclerosing Cholangitis 18
568 c ATM087 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 18
569 c OMP009 Omphalocele, Autosomal 18
570 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 18
571 c ATS229 Autosomal Recessive Lymphoproliferative Disease 18
572 c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 17
573 MCC004 Mucocele of Appendix 16
574 GCG001 Gcgr-Related Hyperglucagonemia 16
575 c CRN122 Corneal Dystrophy, Fuchs Endothelial, 7 16
576 OSP001 Oesophagostomiasis 16
577 MCK004 Meckel's Diverticulitis 16
578 SLT007 Solitary Rectal Ulcer Syndrome 16
579 c PLY066 Polyposis Syndrome, Hereditary Mixed, 2 15
580 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 15
581 HYD004 Hydrops of Gallbladder 15
582 P ACT046 Acute Apical Periodontitis 15
583 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 14
584 PLY003 Polycystic Echinococcosis 14
585 c ESP034 Esophagitis, Eosinophilic, 2 14
586 ANL005 Anal Spasm 13
587 PRT107 Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia 12
588 ECH001 Echinostomiasis 12
589 CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 12
590 SGM001 Sigmoid Disease 12
591 c ACQ036 Acquired Angioedema Type 2 12
592 PLP002 Pulp Degeneration 11
593 RCT016 Rectum Leiomyosarcoma 11
594 GLL016 Gallbladder Leiomyosarcoma 11
595 ESP003 Esophageal Lipoma 11
596 ESP014 Esophagus Leiomyoma 10
597 ESP013 Esophagus Squamous Cell Papilloma 10
598 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 10
599 ESP019 Esophagus Leiomyosarcoma 10
600 UND004 Undetermined Colitis 10
601 c PYL011 Pyloric Stenosis, Infantile Hypertrophic, 5 10
602 APP005 Appendix Leiomyoma 10
603 ESP007 Esophagus Liposarcoma 9
604 GLL014 Gallbladder Rhabdomyosarcoma 9
605 ESP008 Esophageal Leukoplakia 9
606 c BCT001 Bacterial Esophagitis 9
607 ANL009 Anal Canal Paget's Disease 9
608 GNC009 Gonococcal Seminal Vesiculitis 9
609 c JND003 Jaundice, Familial Obstructive, of Infancy 9
610 ESP017 Esophageal Diverticulosis 9
611 c ACQ035 Acquired Angioedema Type 1 9
612 DSP001 Displacement of Cardia Through Esophageal Hiatus 8
613 GLL002 Gallbladder Angiosarcoma 8
614 RCT012 Rectum Rhabdomyosarcoma 8
615 CHR009 Chronic Duodenal Ileus 8
616 c PYL010 Pyloric Stenosis, Infantile Hypertrophic, 4 8
617 DDN022 Duodenum Adenoma 8
618 c PYL008 Pyloric Stenosis, Infantile Hypertrophic, 2 8
619 c PYL009 Pyloric Stenosis, Infantile Hypertrophic, 3 8
620 CCM005 Cecum Adenoma 8
621 RCT035 Rectum Adenoma 8
622 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
623 CNG301 Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance 7
624 CNG300 Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance 7
625 CNG299 Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance 7
626 ODN001 Odontoclasia 7
627 CNG304 Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance 7
628 STR003 Strawberry Gallbladder 7
629 CNG305 Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance 7
630 ANS008 Anus Rhabdomyosarcoma 7
631 ANS009 Anus Leiomyosarcoma 7
632 P SMN001 Seminal Vesicle Acute Gonorrhea 7
633 c SMN004 Seminal Vesicle Chronic Gonorrhea 7
634 RCT004 Rectum Leiomyoma 6
635 FBR006 Fibroepithelial Polyp of the Anus 6
636 OCC004 Occlusion of Gallbladder 6
637 MLG031 Malignant Granular Cell Esophageal Tumor 6
638 ANS005 Anus Leiomyoma 6
639 GLL003 Gallbladder Lipoma 6
640 LPM003 Lipoma of the Rectum 6
641 c SSC054 Susceptibility to Localized Juvenile Periodontitis 6
642 HYP049 Hypertrophy of Tongue Papillae 6
643 LCL008 L-Cell Glucagon-Like Peptide Producing Tumor 6
644 ULC002 Ulcer of Anus and Rectum 6
645 OTL001 Outlet Dysfunction Constipation 6
646 APP007 Appendiceal L-Cell Glucagon-Like Peptide Producing Tumor 6
647 ORP001 Oropharyngeal Anthrax 6
648 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
649 GLL006 Gallbladder Papillomatosis 5
650 DPH005 Diphtheritic Peritonitis 4
651 MTL001 Motility-Related Diarrhea 4
652 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 4
653 c PRT053 Portal Hypertension Due to Infrahepatic Block 3
654 c GST103 Gastric Cancer, Hereditary Diffuse 55
655 P CLR023 Colorectal Cancer 99
656 c FML053 Familial Colorectal Cancer 42
657 c FML311 Familial Colorectal Cancer Type X 31
658 c CLR080 Colorectal Cancer 5 26
659 c CLR079 Colorectal Cancer 2 24
660 c CLR081 Colorectal Cancer 6 21
661 c CLR083 Colorectal Cancer 8 14
662 c CLR082 Colorectal Cancer 7 14
663 c CLR084 Colorectal Cancer 9 12
664 c CLR078 Colorectal Cancer 11 12
665 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 53
666 P DFF019 Diffuse Gastric Cancer 43
667 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 29
668 P SML016 Small Intestine Cancer 54
669 c SML009 Small Intestine Adenocarcinoma 43
670 P LYN001 Lynch Syndrome 72
671 c LYN004 Lynch Syndrome I 59
672 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 70
673 CRC014 Carcinoid Tumors, Intestinal 51
674 JJN004 Jejunal Atresia 37
675 GST027 Gastric Lymphoma 54
676 P MGL001 Megaloblastic Anemia 52
677 DRR016 Diarrhea 2, with Microvillus Atrophy 49
678 c MGL018 Megaloblastic Anemia 1 46
679 GST040 Gastric Adenocarcinoma 66
680 CLN015 Colon Adenocarcinoma 57
681 STM011 Stomach Cancer, Childhood 6
682 VPM001 Vipoma 52
683 GST049 Gastrointestinal System Cancer 62
684 P LYM124 Lymphangiectasia, Intestinal 34
685 c CLR041 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 29
686 ABC001 Abcd Syndrome 30
687 DLF001 Dieulafoy Lesion 25
688 CRH001 Crohn's Disease 79
689 GST105 Gastroesophageal Adenocarcinoma 44
690 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 20
691 ZLL002 Zollinger-Ellison Syndrome 59
692 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
693 CHY002 Chylomicron Retention Disease 53
694 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
695 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
696 GST012 Gastroesophageal Junction Adenocarcinoma 42
697 GST016 Gastric Signet Ring Cell Adenocarcinoma 41
698 ENT008 Enteropathy-Associated T-Cell Lymphoma 39
699 c MTC010 Mitochondrial Dna Depletion Syndrome 37
700 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
701 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
702 MNG003 Mungan Syndrome 33
703 GST029 Gastric Cardia Adenocarcinoma 32
704 c MTC063 Mitochondrial Dna Depletion Syndrome 3 31
705 MCN009 Mucinous Stomach Adenocarcinoma 31
706 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
707 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
708 CLN002 Colon Mucinous Adenocarcinoma 29
709 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
710 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
711 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
712 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 23
713 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
714 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
715 OGL001 Ogilvie Syndrome 21
716 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
717 P MTC014 Mitochondrial Dna Deletion Syndromes 13
718 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
719 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
720 AMB001 Amebiasis 48
721 MLL004 Mallory-Weiss Syndrome 24
722 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 22
723 P LRG016 Large Intestine Adenocarcinoma 42
724 P GST047 Gastrointestinal Neuroendocrine Tumor 41
725 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 35
726 CRR017 Curry-Jones Syndrome 32
727 BLN004 Balantidiasis 27
728 GST032 Gastric Papillary Adenocarcinoma 25
729 MTC096 Mitchell-Riley Syndrome 23
730 P CLR055 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 18
731 GST056 Gastrocutaneous Syndrome 17
732 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 6
733 c DPH024 Diaphragmatic Hernia, Congenital 66
734 GST017 Gastric Tubular Adenocarcinoma 33
735 GST042 Gastric Diffuse Adenocarcinoma 30
736 SGM002 Sigmoid Neoplasm 30
737 SPL003 Splenic Flexure Cancer 18
738 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 17
739 c DPH016 Diaphragmatic Hernia 3 16
740 c DPH025 Diaphragmatic Hernia 2 15
741 PLX003 Plexosarcoma 14
742 HPT005 Hepatic Flexure Cancer 12
743 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 12
744 P HRN027 Hernia, Anterior Diaphragmatic 10
745 PYL007 Pylorus Cancer 8
746 CLN001 Colon Signet Ring Adenocarcinoma 5
747 KRT026 Keratosis Palmoplantaris Adenocarcinoma of the Colon 3
748 c HRD002 Hereditary Angioedema 57
749 STR008 Strongyloidiasis 55
750 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 53
751 CRN055 Carney Triad 45
752 GLC022 Glucose/galactose Malabsorption 44
753 PRM237 Primary Hypomagnesemia 39
754 TRP004 Tropical Sprue 36
755 RCT015 Reactive Arthritis 63
756 c LRG017 Large Intestine Cancer 63
757 PRS034 Parasitic Helminthiasis Infectious Disease 51
758 DDN011 Duodenal Atresia 47
759 PNC016 Pancreatic Cholera 42
760 LYM042 Lymphocytic Colitis 39
761 c CLR037 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 38
762 c CLR039 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 37
763 INT088 Intrinsic Factor Deficiency 36
764 c HRS034 Hirschsprung Disease 3 19
765 c CLR100 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 18
766 c CLR089 Colorectal Cancer, Hereditary Nonpolyposis, Type 8 18
767 GMF001 Game Friedman Paradice Syndrome 9
768 c HRD010 Hereditary Spastic Paraplegia 69
769 PRT036 Peritonitis 67
770 P GLL020 Gallbladder Disease 64
771 P PNC044 Pancreatitis 62
772 c PNC108 Pancreatitis, Hereditary 61
773 CHL014 Cholera 61
774 c ACT027 Acute Pancreatitis 59
775 CLR109 Colorectal Adenocarcinoma 54
776 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 54
777 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 53
778 ANC001 Ancylostomiasis 51
779 DDN010 Duodenum Cancer 50
780 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 49
781 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 49
782 c GMM003 Gamma Heavy Chain Disease 49
783 MLK006 Milk Allergy 48
784 c ATM024 Autoimmune Pancreatitis 48
785 TRC023 Trichinosis 47
786 TRC010 Trichotillomania 47
787 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 46
788 c GLL024 Gallbladder Disease 1 45
789 CLL021 Collagenous Colitis 45
790 FRY002 Fryns Syndrome 42
791 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 41
792 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 40
793 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 40
794 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 39
795 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 39
796 c RCR022 Recurrent Acute Pancreatitis 39
797 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 38
798 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 38
799 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
800 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 38
801 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 38
802 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 38
803 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 38
804 P HVY001 Heavy Chain Disease 38
805 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 37
806 ANS003 Anisakiasis 37
807 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 37
808 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 37
809 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 36
810 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 36
811 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 36
812 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 36
813 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 36
814 SCR037 Sucrase-Isomaltase Deficiency, Congenital 36
815 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 35
816 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 35
817 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 35
818 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 35
819 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
820 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 34
821 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 34
822 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 34
823 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
824 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 33
825 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 33
826 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 33
827 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 32
828 c SPS031 Spastic Paraplegia 23 31
829 P SPS012 Spastic Paraplegia 3a 31
830 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 31
831 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 31
832 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 31
833 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 30
834 c ALP087 Alpha-Heavy Chain Disease 30
835 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 30
836 c SPS039 Spastic Paraplegia 5a 29
837 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 29
838 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 29
839 c SPS092 Spastic Paraplegia 11 28
840 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 28
841 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 28
842 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
843 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 28
844 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
845 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 28
846 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
847 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 28
848 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 28
849 PNC027 Pancreatic Gastrinoma 28
850 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 27
851 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 27
852 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 27
853 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 26
854 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 26
855 c SPS036 Spastic Paraplegia 3 26
856 c SPS091 Spastic Paraplegia 4 26
857 c SPS021 Spastic Paraplegia 10 26
858 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 26
859 c HRD186 Hereditary Spastic Paraplegia 51 26
860 c GLL027 Gallbladder Disease 4 25
861 c SPS025 Spastic Paraplegia 15 25
862 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 25
863 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 25
864 c SPS027 Spastic Paraplegia 17 24
865 BLC012 Bile Acid Malabsorption, Primary 23
866 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 23
867 c ALP005 Alpha Chain Disease 23
868 c SPS013 Spastic Paraplegia 8 23
869 P MCH003 Mu Chain Disease 22
870 c SPS020 Spastic Paraplegia 1 22
871 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 21
872 c SPS037 Spastic Paraplegia 31 21
873 c SPS041 Spastic Paraplegia 6 20
874 c ATM064 Autoimmune Pancreatitis Type 1 20
875 CHL076 Chilaiditi Syndrome 20
876 c SPS023 Spastic Paraplegia 13 19
877 c HNN004 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 19
878 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 19
879 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 19
880 c SPS028 Spastic Paraplegia 18 19
881 c SPS042 Spastic Paraplegia 9 18
882 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 18
883 THK001 Thakker-Donnai Syndrome 18
884 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 18
885 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 18
886 c SPS034 Spastic Paraplegia 26 18
887 c SPS032 Spastic Paraplegia 24 18
888 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 18
889 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 17
890 c SPS029 Spastic Paraplegia 19 17
891 c SPS033 Spastic Paraplegia 25 17
892 c SPS035 Spastic Paraplegia 29 17
893 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
894 c SPS026 Spastic Paraplegia 16 16
895 c SPS080 Spastic Paraplegia 51 16
896 c SPS161 Spastic Paraplegia 32 16
897 c HRD188 Hereditary Spastic Paraplegia 72 16
898 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
899 c SPS022 Spastic Paraplegia 12 16
900 c HNN006 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 16
901 c SPS024 Spastic Paraplegia 14 15
902 c SPS038 Spastic Paraplegia 39 15
903 c ATM063 Autoimmune Pancreatitis Type 2 14
904 c SPS040 Spastic Paraplegia 5b 12
905 c SPS230 Spastic Paraplegia Type 49 12
906 c GLL026 Gallbladder Disease 3 12
907 c GLL025 Gallbladder Disease 2 12
908 LKM072 Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer 11
909 c SPS165 Spastic Paraplegia 47 11
910 SGL001 Siegler Brewer Carey Syndrome 9
911 c PRS050 Prss1-Related Hereditary Pancreatitis 8
912 PYL003 Pyloric Antrum Cancer 7
913 SBM001 Submucosal Invasive Colon Adenocarcinoma 7
914 SQM019 Squamous Cell Carcinoma of the Small Intestine 7
915 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
916 PRM033 Paraomphalocele 6
917 MCP018 Mcpherson Clemens Syndrome 6
918 c DLT001 Delta Chain Disease 4
919 STL002 Stalker Chitayat Syndrome 3
920 P LVR013 Liver Disease 77
921 P HPT021 Hepatitis 74
922 c HPT073 Hepatitis C Virus 73
923 c HPT016 Hepatitis B 70
924 c HPT001 Hepatitis C 69
925 FTT001 Fatty Liver Disease 66
926 c HPT003 Hepatitis a 66
927 c ATM011 Autoimmune Hepatitis 66
928 P CRN037 Craniosynostosis 66
929 P PLV020 Pelvic Organ Prolapse 64
930 PRP083 Porphyria, Acute Intermittent 63
931 ALC006 Alcoholic Hepatitis 62
932 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
933 CHL068 Cholestasis 60
934 c VRL010 Viral Hepatitis 60
935 CHL067 Cholecystitis 59
936 P RCT021 Rectum Cancer 58
937 PLM014 Pleomorphic Adenoma 56
938 c HPT007 Hepatitis E 56
939 ANS023 Anus, Imperforate 55
940 ESP020 Esophageal Atresia 55
941 P HMR005 Hemorrhoid 54
942 P PRM006 Primary Biliary Cirrhosis 54
943 MCK005 Mckusick-Kaufman Syndrome 54
944 c ACT134 Acute Liver Failure 53
945 ALC009 Alcoholic Liver Cirrhosis 52
946 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 52
947 ALV002 Alveolar Echinococcosis 52
948 c HPT015 Hepatitis D 52
949 ECT093 Ectopic Cushing Syndrome 51
950 GLC036 Glucagonoma 51
951 P BLD036 Bile Duct Disease 51
952 c LYM145 Lymphatic Malformation 5 51
953 TRC012 Trichuriasis 51
954 ESP002 Esophageal Varix 51
955 TRP008 Tropical Calcific Pancreatitis 50
956 P LYM127 Lymphatic Malformations 50
957 AMP013 Ampulla of Vater Cancer 50
958 HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 50
959 RCT009 Rectosigmoid Cancer 49
960 ACH015 Achalasia, Familial Esophageal 49
961 LYM004 Lymphoid Interstitial Pneumonia 49
962 TRC040 Tracheoesophageal Fistula 49
963 DNT001 Dental Fluorosis 48
964 c INF145 Infantile Liver Failure Syndrome 1 48
965 TNG009 Tongue Squamous Cell Carcinoma 48
966 VTM033 Vitamin K Deficiency Bleeding 47
967 HRD005 Hard Palate Cancer 47
968 TNS004 Tonsil Cancer 47
969 PRP056 Porphyria, Acute Hepatic 47
970 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 47
971 MCR037 Macroglossia 47
972 GGR001 Geographic Tongue 47
973 ISC015 Ischemic Colitis 46
974 APP010 Appendix Cancer 46
975 GLL017 Gallbladder Adenocarcinoma 46
976 ANL004 Anal Canal Squamous Cell Carcinoma 45
977 HPT067 Hepatocellular Adenoma 45
978 SCR020 Sacral Defect with Anterior Meningocele 44
979 c CRN278 Craniosynostosis 1 44
980 ANG002 Angiostrongyliasis 44
981 BRR002 Barrett's Adenocarcinoma 43
982 ESP025 Esophagus Adenocarcinoma 43
983 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
984 IMM184 Immunodeficiency 17 43
985 ANL014 Anal Canal Adenocarcinoma 42
986 BLR027 Blue Rubber Bleb Nevus 42
987 ALV001 Alveolar Periostitis 42
988 DRG002 Drug-Induced Hepatitis 41
989 AMP003 Ampulla of Vater Neoplasm 41
990 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 41
991 ADN013 Adenoid Squamous Cell Carcinoma 41
992 RCT020 Rectum Adenocarcinoma 41
993 c LYM150 Lymphatic Malformation 7 40
994 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 40
995 ANS025 Anus Benign Neoplasm 40
996 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 40
997 DHY011 Dihydropyrimidinase Deficiency 40
998 APP003 Appendiceal Neoplasm 40
999 c LYM144 Lymphatic Malformation 1 40
1000 AMP009 Ampulla of Vater Adenocarcinoma 39
1001 c BLR024 Biliary Cirrhosis, Primary, 1 39
1002 ORL019 Oral Hairy Leukoplakia 38
1003 HPT008 Hepatic Tuberculosis 38
1004 HMN004 Hemangioma of Liver 38
1005 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 38
1006 DDN023 Duodenal Benign Neoplasm 38
1007 DDN003 Duodenum Adenocarcinoma 38
1008 BLR005 Biliary Papillomatosis 37
1009 SWL001 Swallowing Disorders 36
1010 CLC003 Cloacogenic Carcinoma 36
1011 ESP010 Esophageal Basaloid Squamous Cell Carcinoma 36
1012 PNC039 Pancreatic Cystadenoma 36
1013 XNT002 Xanthogranulomatous Cholecystitis 36
1014 c CLR085 Colorectal Cancer 1 36
1015 BLR002 Bile Reflux 35
1016 JJN003 Jejunal Cancer 35
1017 SLV025 Salivary Gland Adenoma, Pleomorphic 35
1018 CCM001 Cecum Adenocarcinoma 34
1019 PLM009 Pleomorphic Adenoma Carcinoma 34
1020 ESP027 Esophagus Squamous Cell Carcinoma 34
1021 JJN002 Jejunal Neoplasm 34
1022 HYP021 Hypercementosis 34
1023 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
1024 ESP011 Esophagus Verrucous Carcinoma 33
1025 PNC018 Pancreatic Serous Cystadenoma 33
1026 MTG001 Metagonimiasis 33
1027 HPT081 Hepatic Infarction 32
1028 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 32
1029 PRM014 Periampullary Adenocarcinoma 32
1030 NRG001 Neurogenic Bowel 32
1031 MLG038 Malignant Anus Melanoma 31
1032 PNC028 Pancreatic Steatorrhea 31
1033 SLL001 Sialolithiasis 31
1034 c CLR077 Colorectal Cancer 10 30
1035 DDN005 Duodenal Somatostatinoma 30
1036 PLM049 Plummer Vinson Syndrome 30
1037 c CMM007 Common Bile Duct Disease 30
1038 BLD033 Bile Duct Adenoma 30
1039 TTH030 Teeth, Supernumerary 30
1040 APP013 Appendix Carcinoid Tumor 30
1041 BYL001 Baylisascariasis 30
1042 TNS013 Tonsil Squamous Cell Carcinoma 29
1043 CYS011 Cystoisosporiasis 29
1044 ILM001 Ileum Cancer 29
1045 MCC003 Mucocele of Salivary Gland 29
1046 CHL040 Cholangiolocellular Carcinoma 29
1047 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
1048 PNC048 Pancreatic Lipase Deficiency 28
1049 c CRN277 Craniosynostosis 2 28
1050 LWR001 Lower Lip Cancer 28
1051 c LVR030 Liver Failure, Infantile, Transient 27
1052 CCM004 Cecum Carcinoma 27
1053 LVR004 Liver Inflammatory Pseudotumor 27
1054 STP002 Staphyloenterotoxemia 27
1055 PRT034 Peritoneal Serous Adenocarcinoma 26
1056 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 26
1057 GLL021 Gallbladder Sarcoma 26
1058 c CRN281 Craniosynostosis 7 26
1059 c CRN217 Craniosynostosis 3 25
1060 INT049 Intrahepatic Bile Duct Adenoma 25
1061 c LYM149 Lymphatic Malformation 6 25
1062 SND005 Sandifer Syndrome 25
1063 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 25
1064 ATN016 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 25
1065 JJN007 Jejunal Adenocarcinoma 24
1066 LVR005 Liver Leiomyoma 24
1067 RCT023 Rectum Squamous Cell Carcinoma 24
1068 ESP006 Esophageal Adenosquamous Carcinoma 24
1069 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 24
1070 NTM001 Nutmeg Liver 23
1071 ANS010 Anus Adenocarcinoma 23
1072 ULC008 Ulcerative Proctitis 23
1073 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 23
1074 PYR008 Pyriform Sinus Cancer 23
1075 c CLR087 Colorectal Cancer 12 23
1076 GRF006 Grfoma 23
1077 c LYM148 Lymphatic Malformation 4 23
1078 CCL003 Cecal Benign Neoplasm 23
1079 c CRN221 Craniosynostosis 4 23
1080 c CRN216 Craniosynostosis 5 23
1081 TRH001 Trehalase Deficiency 22
1082 c CLR075 Colorectal Cancer 3 22
1083 PRT017 Peritoneal Serous Papillary Adenocarcinoma 22
1084 TTH005 Teeth Hard Tissue Disease 22
1085 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 22
1086 MCN005 Mucinous Intrahepatic Cholangiocarcinoma 21
1087 ANS001 Anus Basaloid Carcinoma 21
1088 ADN005 Adenosquamous Gallbladder Carcinoma 21
1089 c CRN256 Craniosynostosis 6 21
1090 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1091 c INF138 Infantile Liver Failure Syndrome 2 21
1092 GLS013 Glossodynia 21
1093 ESP009 Esophageal Neuroendocrine Tumor 21
1094 GLL013 Gallbladder Lymphoma 21
1095 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
1096 c LYM147 Lymphatic Malformation 3 21
1097 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1098 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 20
1099 c VRL006 Viral Esophagitis 20
1100 IMM075 Immunodeficiency 22 20
1101 PPM002 Ppoma 20
1102 IMM079 Immunodeficiency, Common Variable, 11 20
1103 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 20
1104 CNG298 Congenital Pancreatic Cyst 19
1105 TCL022 T-Cell Receptor-Alpha/beta Deficiency 19
1106 RCT008 Rectosigmoid Junction Neoplasm 19
1107 MCP008 Mucoepidermoid Esophageal Carcinoma 19
1108 MXD007 Mixed Hepatoblastoma 19
1109 PRN017 Perianal Hematoma 18
1110 LVR010 Liver Leiomyosarcoma 18
1111 NRN032 Neuroendocrine Tumor of Anal Canal 18
1112 RCT013 Rectum Signet Ring Adenocarcinoma 18
1113 JCK003 Jackhammer Esophagus 17
1114 THR030 Thoraco Abdominal Enteric Duplication 17
1115 c BLR016 Biliary Cirrhosis, Primary, 2 17
1116 MCN018 Mucinous Adenocarcinoma of the Appendix 17
1117 GLL012 Gallbladder Melanoma 17
1118 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 17
1119 MNC020 Monoclonal Mast Cell Activation Syndrome 16
1120 CTN018 Cutaneous Photosensitivity and Colitis, Lethal 16
1121 c LYM146 Lymphatic Malformation 2 15
1122 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 15
1123 ESP005 Esophagus Carcinoma in Situ 15
1124 ADN072 Adenoma of Pancreas 15
1125 c RCT010 Rectum Carcinoma in Situ 15
1126 RCT006 Rectum Mucinous Adenocarcinoma 15
1127 SSS001 Sessile Serrated Polyposis Cancer Syndrome 15
1128 LVR009 Liver Rhabdomyosarcoma 14
1129 GMC001 Gum Cancer 14
1130 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 14
1131 THY010 Thymus Mucoepidermoid Carcinoma 14
1132 SFT002 Soft Palate Cancer 14
1133 BLD035 Bile Duct Cystadenoma 14
1134 LVR001 Liver Lipoma 13
1135 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 13
1136 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 13
1137 PNC024 Pancreatic Colloid Cystadenoma 13
1138 SRC004 Sarcomatous Intrahepatic Cholangiocarcinoma 13
1139 c BLR017 Biliary Cirrhosis, Primary, 3 13
1140 GLL009 Gallbladder Signet Ring Cell Adenocarcinoma 12
1141 APP002 Appendix Lymphoma 12
1142 MCR073 Microgastria Limb Reduction Defect 12
1143 ESP026 Esophagus Sarcoma 12
1144 ESP016 Esophagus Melanoma 12
1145 GLL004 Gallbladder Papillary Carcinoma 12
1146 c BLR025 Biliary Cirrhosis, Primary, 4 11
1147 RCT002 Rectum Lymphoma 11
1148 c BLR026 Biliary Cirrhosis, Primary, 5 10
1149 ESP012 Esophageal Adenoid Cystic Carcinoma 10
1150 c PLV014 Pelvic Organ Prolapse 2 10
1151 CHK002 Cheek Mucosa Cancer 10
1152 RCT003 Rectum Malignant Melanoma 10
1153 EXT028 Extrahepatic Bile Duct Adenoma 10
1154 RCT022 Rectum Sarcoma 10
1155 BLD037 Bile Duct Rhabdomyosarcoma 10
1156 NRF005 Neurofibroma of Gallbladder 9
1157 NRF004 Neurofibroma of the Esophagus 9
1158 AMP005 Ampullary Signet Ring Cell Adenocarcinoma 9
1159 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 9
1160 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
1161 ESP015 Esophagus Lymphoma 9
1162 PST031 Postcricoid Region Cancer 9
1163 c CRN299 Craniosynostosis Syndrome, Autosomal Recessive 9
1164 ANL001 Anal Colloid Adenocarcinoma 9
1165 ANL003 Anal Buschke-Lowenstein Tumor 8
1166 PRF001 Perforation of Bile Duct 8
1167 AMP004 Ampulla of Vater Adenosquamous Carcinoma 8
1168 JJN001 Jejunal Somatostatinoma 8
1169 AMP006 Ampulla of Vater Squamous Cell Carcinoma 8
1170 RCT007 Rectal Cloacogenic Carcinoma 8
1171 ARY001 Aryepiglottic Fold Cancer 8
1172 LWR002 Lower Gum Cancer 8
1173 CCM002 Cecum Lymphoma 8
1174 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
1175 ANL010 Anal Neuroendocrine Tumor 8
1176 MLC005 Malocclusion Due to Protuberant Upper Front Teeth 8
1177 LVR008 Liver Fibrosarcoma 8
1178 GLT030 Gluten Allergy 8
1179 UVL001 Uvula Cancer 8
1180 TNS006 Tonsillar Pillar Cancer 8
1181 RCT014 Rectum Kaposi's Sarcoma 8
1182 UPP002 Upper Lip Cancer 8
1183 ANS014 Anus Sarcoma 8
1184 APP004 Appendix Mucinous Cystadenocarcinoma 8
1185 FLL045 Follicular Cholangitis and Pancreatitis 8
1186 WLD001 Waldeyer's Ring Cancer 8
1187 AMP001 Ampulla of Vater Mucinous Adenocarcinoma 7
1188 AMP008 Ampulla of Vater Clear Cell Adenocarcinoma 7
1189 UND008 Undifferentiated Carcinoma of Esophagus 7
1190 UPP003 Upper Gum Cancer 7
1191 VST002 Vestibule of Mouth Cancer 7
1192 PRN012 Perianal Skin Paget's Disease 7
1193 LVR007 Liver Fibroma 7
1194 PRP089 Prp Systemic Amyloidosis 7
1195 TNS003 Tonsillar Fossa Cancer 7
1196 MCK001 Meckel's Diverticulum Cancer 7
1197 EXT017 Extrahepatic Bile Duct Papillary Adenoma 7
1198 EXT005 Extrahepatic Bile Duct Lipoma 7
1199 EXT013 Extrahepatic Bile Duct Leiomyoma 7
1200 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1201 MLG134 Malignant Epithelial Tumor of Salivary Glands 7
1202 RTR002 Retromolar Area Cancer 6
1203 TRC090 Trachea Mucoepidermoid Carcinoma 6
1204 VLL005 Vallecula Cancer 6
1205 BLR003 Biliary Tract Intraductal Papillary Mucinous Neoplasm 6
1206 SGN003 Signet Ring Cell Intrahepatic Cholangiocarcinoma 6
1207 c CRN093 Craniosynostosis Autosomal Dominant 6
1208 CYT021 Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder 6
1209 ANS007 Anus Lymphoma 6
1210 MCR005 Macrotrabecular Hepatoblastoma 6
1211 GLL010 Gallbladder Mucinous Carcinoma 5
1212 RCT001 Rectum Sarcomatoid Carcinoma 5
1213 BRN115 Bronchus Mucoepidermoid Carcinoma 5
1214 IMM197 Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome 4
1215 GLL005 Gallbladder Pleomorphic Giant Cell Adenocarcinoma 4
1216 c FML299 Familial Adenomatous Polyposis 3 27
1217 c FML347 Familial Adenomatous Polyposis 2 24
1218 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1219 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
1220 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
1221 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
1222 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
1223 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
1224 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
1225 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1226 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
1227 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
1228 DGS008 Digestive System Melanoma 13
1229 BRR014 Barrett Esophagus 71
1230 MRT001 Muir-Torre Syndrome 60
1231 CLD014 Cole Disease 33
1232 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 32
1233 c CWD006 Cowden Syndrome 1 74
1234 CYS005 Cysticercosis 59
1235 APP009 Appendix Adenocarcinoma 41
1236 IMM179 Immunodeficiency 31c 29
1237 ACC005 Accessory Pancreas 16
1238 PSD007 Pseudomyxoma Peritonei 54
1239 P PTT006 Pituitary Adenoma 54
1240 c PTT056 Pituitary Adenoma 1, Multiple Types 51
1241 ANS011 Anus Cancer 47
1242 IMM154 Immunoglobulin a Deficiency 1 47
1243 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
1244 P MNT319 Mental Retardation, Autosomal Dominant 20 39
1245 PNC118 Pancreas, Annular 38
1246 c MNT143 Mental Retardation, Autosomal Dominant 13 38
1247 c MNT185 Mental Retardation, Autosomal Dominant 7 29
1248 P FML168 Familial Isolated Pituitary Adenoma 28
1249 MNT006 Manitoba Oculotrichoanal Syndrome 27
1250 c MNT246 Mental Retardation, Autosomal Dominant 38 27
1251 c MNT212 Mental Retardation, Autosomal Dominant 26 27
1252 c MNT241 Mental Retardation, Autosomal Dominant 32 26
1253 c MNT219 Mental Retardation, Autosomal Dominant 30 26
1254 c MNT210 Mental Retardation, Autosomal Recessive 42 26
1255 c MNT158 Mental Retardation, Autosomal Dominant 22 25
1256 c MNT145 Mental Retardation, Autosomal Recessive 5 25
1257 c MNT157 Mental Retardation, Autosomal Dominant 18 25
1258 c MNT270 Mental Retardation, Autosomal Recessive 53 25
1259 c MNT280 Mental Retardation, Autosomal Dominant 43 25
1260 c MNT322 Mental Retardation, Autosomal Dominant 27 25
1261 c MNT214 Mental Retardation, Autosomal Dominant 24 25
1262 c MNT166 Mental Retardation, Autosomal Recessive 39 25
1263 c MNT287 Mental Retardation, Autosomal Recessive 57 25
1264 c MNT155 Mental Retardation, Autosomal Recessive 2 25
1265 c MNT325 Mental Retardation, Autosomal Recessive 61 24
1266 c MNT213 Mental Retardation, Autosomal Recessive 40 24
1267 c MNT222 Mental Retardation, Autosomal Dominant 29 24
1268 c MNT183 Mental Retardation, Autosomal Recessive 36 24
1269 c MNT262 Mental Retardation, Autosomal Dominant 42 24
1270 c MNT328 Mental Retardation, Autosomal Dominant 52 24
1271 c MNT244 Mental Retardation, Autosomal Recessive 49 24
1272 c MNT150 Mental Retardation, Autosomal Recessive 15 23
1273 c MNT242 Mental Retardation, Autosomal Dominant 40 23
1274 c MNT239 Mental Retardation, Autosomal Dominant 35 23
1275 c MNT238 Mental Retardation, Autosomal Dominant 34 23
1276 c MNT216 Mental Retardation, Autosomal Recessive 41 23
1277 c MNT176 Mental Retardation, Autosomal Recessive 38 23
1278 c MNT226 Mental Retardation, Autosomal Dominant 31 23
1279 c MNT272 Mental Retardation, Autosomal Dominant 41 23
1280 c MNT273 Mental Retardation, Autosomal Dominant 44 23
1281 c MNT184 Mental Retardation, Autosomal Dominant 11 23
1282 c MNT321 Mental Retardation, Autosomal Recessive 37 23
1283 c MNT186 Mental Retardation, Autosomal Dominant 10 23
1284 c MNT282 Mental Retardation, Autosomal Recessive 55 22
1285 c MNT324 Mental Retardation, Autosomal Dominant 49 22
1286 c MNT221 Mental Retardation, Autosomal Recessive 44 22
1287 c MNT211 Mental Retardation, Autosomal Dominant 23 22
1288 c MNT179 Mental Retardation, Autosomal Dominant 21 22
1289 c MNT245 Mental Retardation, Autosomal Dominant 36 22
1290 c MNT177 Mental Retardation, Autosomal Recessive 27 22
1291 c MNT181 Mental Retardation, Autosomal Recessive 35 22
1292 c MNT236 Mental Retardation, Autosomal Dominant 39 22
1293 c MNT323 Mental Retardation, Autosomal Dominant 48 21
1294 c MNT227 Mental Retardation, Autosomal Recessive 46 21
1295 c MNT285 Mental Retardation, Autosomal Recessive 58 21
1296 c MNT240 Mental Retardation, Autosomal Dominant 33 21
1297 c MNT234 Mental Retardation, Autosomal Recessive 48 21
1298 LRB003 Lrba Deficiency 21
1299 c MNT220 Mental Retardation, Autosomal Recessive 45 20
1300 c MNT286 Mental Retardation, Autosomal Dominant 45 20
1301 c MNT329 Mental Retardation, Autosomal Dominant 53 20
1302 c MNT337 Mental Retardation, Autosomal Dominant 58 20
1303 c MNT279 Mental Retardation, Autosomal Dominant 47 20
1304 c MNT330 Mental Retardation, Autosomal Dominant 54 20
1305 c MNT154 Mental Retardation, Autosomal Recessive 14 20
1306 c MNT327 Mental Retardation, Autosomal Dominant 51 20
1307 c MNT162 Mental Retardation, Autosomal Recessive 24 20
1308 c MNT275 Mental Retardation, Autosomal Recessive 60 20
1309 c MNT215 Mental Retardation, Autosomal Recessive 43 20
1310 c MNT336 Mental Retardation, Autosomal Recessive 64 20
1311 c MNT339 Mental Retardation, Autosomal Recessive 66 20
1312 c MNT225 Mental Retardation, Autosomal Recessive 47 20
1313 c MNT326 Mental Retardation, Autosomal Dominant 50 20
1314 c MNT332 Mental Retardation, Autosomal Dominant 56 20
1315 c MNT172 Mental Retardation, Autosomal Recessive 25 19
1316 c MNT263 Mental Retardation, Autosomal Recessive 51 19
1317 c MNT165 Mental Retardation, Autosomal Recessive 28 19
1318 c MNT278 Mental Retardation, Autosomal Dominant 46 19
1319 c MNT151 Mental Retardation, Autosomal Recessive 18 19
1320 c MNT163 Mental Retardation, Autosomal Recessive 30 19
1321 c MNT182 Mental Retardation, Autosomal Recessive 19 19
1322 c MNT334 Mental Retardation, Autosomal Dominant 57 19
1323 c MNT167 Mental Retardation, Autosomal Recessive 16 18
1324 c MNT264 Mental Retardation, Autosomal Recessive 52 18
1325 c MNT170 Mental Retardation, Autosomal Recessive 23 18
1326 c MNT180 Mental Retardation, Autosomal Recessive 33 18
1327 c MNT335 Mental Retardation, Autosomal Recessive 63 18
1328 c MNT277 Mental Retardation, Autosomal Recessive 54 18
1329 c MNT281 Mental Retardation, Autosomal Recessive 59 18
1330 c MNT243 Mental Retardation, Autosomal Recessive 50 18
1331 c MNT161 Mental Retardation, Autosomal Recessive 29 18
1332 c MNT338 Mental Retardation, Autosomal Recessive 65 18
1333 c MNT284 Mental Retardation, Autosomal Recessive 56 17
1334 c MNT160 Mental Retardation, Autosomal Recessive 31 16
1335 c PTT060 Pituitary Adenoma 5, Multiple Types 16
1336 c PTT061 Pituitary Adenoma 3, Multiple Types 14
1337 c ATS394 Autosomal Dominant Mental Retardation 55 9
1338 BLD014 Bladder Colonic Type Adenocarcinoma 7
1339 c APR002 Aip-Related Familial Isolated Pituitary Adenomas 7
1340 DWN001 Down Syndrome 72
1341 P CHR012 Chronic Granulomatous Disease 70
1342 c GLY008 Glycogen Storage Disease Ii 67
1343 P NSP012 Nasopharyngeal Carcinoma 66
1344 P END044 Endometriosis 65
1345 CYS013 Cystinuria 65
1346 c CHL119 Cholangitis, Primary Sclerosing 63
1347 c GLY060 Glycogen Storage Disease Ia 62
1348 TNG003 Tongue Cancer 62
1349 c GLY003 Glycogen Storage Disease Iii 62
1350 P ORL007 Oral Cavity Cancer 62
1351 DGR001 Digeorge Syndrome 62
1352 P GLY013 Glycogen Storage Disease 62
1353 P BRL012 Bare Lymphocyte Syndrome, Type Ii 60
1354 ORP003 Oropharynx Cancer 60
1355 PNC034 Pancreas Disease 60
1356 c INS002 in Situ Carcinoma 60
1357 ART001 Arterial Tortuosity Syndrome 59
1358 ORL004 Oral Submucous Fibrosis 59
1359 BLR001 Biliary Atresia 57
1360 c GLY005 Glycogen Storage Disease Vi 57
1361 HPT022 Hepatoblastoma 56
1362 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
1363 c GLY004 Glycogen Storage Disease V 55
1364 P PHR004 Pharynx Cancer 55
1365 P LPC002 Lip Cancer 55
1366 ANG005 Anogenital Venereal Wart 54
1367 ACH005 Achalasia 54
1368 c GLY007 Glycogen Storage Disease Iv 52
1369 P ATT003 Attenuated Familial Adenomatous Polyposis 52
1370 c GLY011 Glycogen Storage Disease Vii 52
1371 KND001 Kindler Syndrome 51
1372 PRT018 Portal Vein Thrombosis 51
1373 c MYS033 Miyoshi Muscular Dystrophy 1 50
1374 MTY001 Mutyh-Associated Polyposis 49
1375 EPT010 Epithelial-Myoepithelial Carcinoma 49
1376 DSM007 Desmoplastic Small Round Cell Tumor 49
1377 ANL017 Anal Squamous Cell Carcinoma 49
1378 CYS008 Cystic Echinococcosis 49
1379 SLD003 Sialadenitis 49
1380 LVR002 Liver Angiosarcoma 48
1381 P MYS079 Miyoshi Muscular Dystrophy 48
1382 CLN003 Clonorchiasis 48
1383 BLD063 Bile Duct Cysts 47
1384 GLD006 Goldberg-Shprintzen Syndrome 47
1385 FSC002 Fascioliasis 46
1386 AND001 Anodontia 45
1387 PRG008 Paragonimiasis 43
1388 IRN008 Iron Overload in Africa 42
1389 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 42
1390 BLD032 Bile Duct Adenocarcinoma 42
1391 TNG004 Tongue Disease 41
1392 c BRL011 Bare Lymphocyte Syndrome, Type I 41
1393 CRL004 Caroli Disease 40
1394 c GLY098 Glycogen Storage Disease, Type Ixd 40
1395 ANL011 Anal Canal Carcinoma 40
1396 SPR007 Superior Mesenteric Artery Syndrome 39
1397 c GLY023 Glycogen Storage Disease Type 0 39
1398 GNT001 Giant Cell Reparative Granuloma 38
1399 PLS002 Peliosis Hepatis 38
1400 HPT020 Hepatic Vascular Disease 38
1401 c GLY044 Glycogen Storage Disease Ixc 38
1402 PNC019 Pancreatoblastoma 37
1403 GBL002 Goblet Cell Carcinoid 37
1404 c GLY016 Glycogen Storage Disease Ib 36
1405 EXT027 Extrahepatic Bile Duct Adenocarcinoma 36
1406 BLR031 Biliary Tract Benign Neoplasm 36
1407 PNC002 Pancreatic Mucinous Cystadenoma 36
1408 MLK004 Malakoplakia 35
1409 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 35
1410 KRK001 Krukenberg Carcinoma 34
1411 PRT009 Parotid Gland Cancer 34
1412 LYM035 Lymphangiectasis 34
1413 c PRM023 Pre-Malignant Neoplasm 34
1414 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 34
1415 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 33
1416 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 33
1417 GLL015 Gallbladder Squamous Cell Carcinoma 33
1418 BLD019 Bile Duct Cystadenocarcinoma 32
1419 c MYS014 Miyoshi Muscular Dystrophy 3 31
1420 STY001 Satoyoshi Syndrome 31
1421 CNG064 Congenital Chloride Diarrhea 31
1422 ADN015 Adenoid Basal Cell Carcinoma 30
1423 LVR014 Liver Sarcoma 29
1424 NRN045 Neuroendocrine Neoplasm of Appendix 29
1425 c GLY097 Glycogen Storage Disease Ixb 29
1426 c GLY017 Glycogen Storage Disease Ic 29
1427 c GLY009 Glycogen Storage Disease Xv 29
1428 LVR031 Liver Benign Neoplasm 28
1429 c GLY043 Glycogen Storage Disease Xii 28
1430 c GLY057 Glycogen Storage Disease X 28
1431 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
1432 BLD005 Bile Duct Mucoepidermoid Carcinoma 26
1433 c GLY006 Glycogen Storage Disease Viii 26
1434 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
1435 PHR008 Pharynx Squamous Cell Carcinoma 25
1436 SCL007 Sclerosing Hepatic Carcinoma 25
1437 c FML339 Familial Adenomatous Polyposis 4 24
1438 FLR007 Failure of Tooth Eruption, Primary 24
1439 ANL012 Anal Gland Adenocarcinoma 24
1440 RCT005 Rectum Neuroendocrine Neoplasm 23
1441 c GLY001 Glycogen Storage Disease Ix 23
1442 c GLY059 Glycogen Storage Disease Xiii 22
1443 ILL008 Ileal Neuroendocrine Tumor 22
1444 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 22
1445 GLL007 Gallbladder Small Cell Carcinoma 22
1446 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 21
1447 c END071 Endometriosis 1 21
1448 SBM004 Submandibular Gland Cancer 20
1449 ANL016 Anal Margin Carcinoma 20
1450 LVR006 Liver Lymphoma 20
1451 ACN026 Acinar Cell Carcinoma of Pancreas 20
1452 PNC014 Pancreatic Serous Cystadenocarcinoma 19
1453 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 19
1454 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 19
1455 HRS003 Hirschsprung Disease Ganglioneuroblastoma 18
1456 HRS037 Hirschsprung Disease with Type D Brachydactyly 18
1457 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 17
1458 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 17
1459 c NSP015 Nasopharyngeal Carcinoma 3 16
1460 c GLY093 Glycogen Storage Disease Ixa 16
1461 c NSP009 Nasopharyngeal Carcinoma 2 15
1462 DST001 Distal Biliary Tract Carcinoma 14
1463 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
1464 c MYS019 Miyoshi Muscular Dystrophy 2 14
1465 HPT011 Hepatocellular Clear Cell Carcinoma 13
1466 ESP004 Esophagus Small Cell Carcinoma 13
1467 SQM014 Squamous Cell Carcinoma of Pancreas 13
1468 INT039 Intrahepatic Biliary Papillomatosis 12
1469 ANL007 Anal Margin Squamous Cell Carcinoma 12
1470 SBL001 Sublingual Gland Cancer 11
1471 BLD006 Bile Duct Clear Cell Adenocarcinoma 11
1472 BLD038 Bile Duct Sarcoma 11
1473 BLD002 Bile Duct Mucinous Adenocarcinoma 10
1474 EPL008 Epilepsy Occipital Calcifications 10
1475 LVR003 Liver Carcinoma in Situ 10
1476 ADN003 Adenosquamous Bile Duct Carcinoma 9
1477 SQM004 Squamous Cell Bile Duct Carcinoma 9
1478 AMP002 Ampulla of Vater Small Cell Carcinoma 9
1479 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 9
1480 BLD007 Bile Duct Signet Ring Cell Carcinoma 9
1481 PRT100 Parotid Gland Adenoid Cystic Carcinoma 9
1482 EXT014 Extrahepatic Bile Duct Cystadenoma 9
1483 c ORL001 Oral Cavity Carcinoma in Situ 9
1484 EXT015 Extrahepatic Biliary Papillomatosis 9
1485 c LPC001 Lip Carcinoma in Situ 9
1486 c EYC001 Eye Carcinoma in Situ 9
1487 LRY003 Laryngeal Mucoepidermoid Carcinoma 9
1488 CMM001 Common Bile Duct Neoplasm 8
1489 INT037 Intrahepatic Bile Duct Cystadenoma 8
1490 c BLD001 Bile Duct Carcinoma in Situ 8
1491 INT014 Intrahepatic Gall Duct Cancer 8
1492 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
1493 ANL002 Anal Gland Neoplasm 7
1494 c PHR001 Pharynx Carcinoma in Situ 7
1495 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1496 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
1497 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 7
1498 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 6
1499 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 5
1500 GLL001 Gall Bladder Carcinoma in Situ 5
1501 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
1502 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
1503 MSM014 Mismatch Repair Cancer Syndrome 64
1504 P VSC017 Visceral Neuropathy Familial 8
1505 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
1506 c MLT156 Multiple Endocrine Neoplasia, Type I 72
1507 c MLT160 Multiple Endocrine Neoplasia, Type Iia 67
1508 DSM004 Desmoid Tumor 65
1509 FNC009 Fanconi-Bickel Syndrome 54
1510 CLB003 Coloboma of Optic Nerve 44
1511 P HPT023 Hepatocellular Carcinoma 97
1512 VSC007 Vascular Disease 72
1513 CMM004 Common Variable Immunodeficiency 71
1514 WLS001 Wilson Disease 71
1515 ABT001 Abetalipoproteinemia 67
1516 CNT097 Central Hypoventilation Syndrome, Congenital 67
1517 INS001 Insulinoma 66
1518 PRD007 Periodontal Disease 66
1519 c MCL062 Mucolipidosis Ii Alpha/beta 65
1520 TRD006 Tardive Dyskinesia 61
1521 FRC011 Fructose Intolerance, Hereditary 60
1522 c MCL013 Mucolipidosis Iv 59
1523 CRT002 Cartilage-Hair Hypoplasia 58
1524 P SLV026 Salivary Gland Carcinoma 56
1525 c MCL046 Mucolipidosis Iii Alpha/beta 56
1526 c TYR012 Tyrosinemia, Type I 56
1527 FBR086 Fibrolamellar Carcinoma 56
1528 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55
1529 GLL018 Gallbladder Cancer 55
1530 INT079 Intrahepatic Cholangiocarcinoma 55
1531 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
1532 SMT003 Somatostatinoma 52
1533 MCP006 Mucoepidermoid Carcinoma 52
1534 KLT001 Klatskin's Tumor 52
1535 LST001 Listeriosis 51
1536 HPT014 Hepatorenal Syndrome 49
1537 P TYR004 Tyrosinemia 49
1538 ORL015 Oral Squamous Cell Carcinoma 48
1539 c ADL096 Adult Hepatocellular Carcinoma 48
1540 c TYR013 Tyrosinemia, Type Ii 47
1541 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
1542 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 47
1543 P MCL001 Mucolipidosis 46
1544 OST022 Osteopathia Striata with Cranial Sclerosis 46
1545 LBS001 Lubs X-Linked Mental Retardation Syndrome 45
1546 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 44
1547 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1548 c TYR011 Tyrosinemia, Type Iii 44
1549 HYP082 Hypopharynx Cancer 43
1550 OPS001 Opisthorchiasis 42
1551 c MCL016 Mucolipidosis Iii Gamma 41
1552 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 35
1553 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
1554 P CNG002 Congenital Bile Acid Synthesis Defect 31
1555 TYL002 Tylosis with Esophageal Cancer 30
1556 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
1557 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
1558 PRM288 Permanent Molars, Secondary Retention of 22
1559 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
1560 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21
1561 GRW003 Growth Hormone Insensitivity with Immunodeficiency 20
1562 OST141 Osteoclastic Giant Cell Tumor of Pancreas 15
1563 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 15
1564 NRN044 Neuroendocrine Carcinoma of Pancreas 15
1565 DF1001 Deaf1-Associated Disorders 11
1566 HPT017 Hepatic Osteogenic Sarcoma 9
1567 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
1568 c SLV006 Salivary Gland Cancer, Adult 6
1569 P PNC035 Pancreatic Cancer 83
1570 THY111 Thyroid Carcinoma, Familial Medullary 71
1571 ADN011 Adenoid Cystic Carcinoma 67
1572 P TRC086 Trichohepatoenteric Syndrome 1 61
1573 BDD001 Budd-Chiari Syndrome 60
1574 P INT099 Intrahepatic Cholestasis of Pregnancy 59
1575 LYS003 Lysinuric Protein Intolerance 52
1576 TXC011 Toxocariasis 42
1577 RYS001 Reye Syndrome 41
1578 c TRC078 Trichohepatoenteric Syndrome 2 35
1579 c PNC111 Pancreatic Cancer 2 23
1580 c PNC103 Pancreatic Cancer 4 22
1581 c PNC095 Pancreatic Cancer 3 19
1582 c PNC094 Pancreatic Cancer 1 16



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