Gastrointestinal Diseases Category (1737 diseases)


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

# Family MCID Name MIFTS
1 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 40
2 PRG017 Paraganglioma and Gastric Stromal Sarcoma 63
3 DGS008 Digestive System Melanoma 14
4 GST030 Gastrinoma 45
5 GST051 Gastrointestinal Tuberculosis 38
6 P INT006 Intestinal Botulism 31
7 ATR015 Atresia of Small Intestine 23
8 c ADL069 Adult Intestinal Botulism 18
9 GST108 Gist-Plus Syndrome 22
10 P IMR002 Imerslund-Grasbeck Syndrome 1 41
11 c IMR003 Imerslund-Grasbeck Syndrome 2 25
12 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 16
13 CHR280 Chronic Erosive Gastritis 28
14 AMB001 Amebiasis 56
15 MTC096 Mitchell-Riley Syndrome 31
16 JNS007 Jansen-De Vries Syndrome 28
17 INF006 Infant Botulism 43
18 GST020 Gastric Antral Vascular Ectasia 40
19 CRR017 Curry-Jones Syndrome 36
20 KPR002 Kapur-Toriello Syndrome 26
21 P LCT002 Lactose Intolerance 51
22 ENT003 Enterobiasis 38
23 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 33
24 MNG003 Mungan Syndrome 26
25 OGL001 Ogilvie Syndrome 24
26 AGN004 Aganglionosis, Total Intestinal 24
27 ENT016 Enterovesical Fistula 19
28 CNG260 Congenital Enterovirus Infection 19
29 CRN283 Cornea Guttata with Anterior Polar Cataracts 15
30 THR030 Thoraco Abdominal Enteric Duplication 14
31 RRD054 Rare Digestive Tumor 6
32 LBN005 Lubani-Al Saleh-Teebi Syndrome 6
33 CCC002 Coccidiosis 50
34 STR094 Stromme Syndrome 45
35 GTT002 Guttate Psoriasis 30
36 MLL004 Mallory-Weiss Syndrome 23
37 ATM077 Autoimmune Gastrointestinal Dysmotility 16
38 CLN012 Colon Leiomyosarcoma 27
39 HYP572 Hypoganglionosis 28
40 DNT004 Dientamoebiasis 22
41 VSC014 Vascular Hyalinosis 20
42 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 18
43 GST057 Gastro-Enteropancreatic Neuroendocrine Tumor 16
44 PLX003 Plexosarcoma 14
45 CLL026 Collagenous Gastritis 13
46 CNG508 Congenital Corneal Opacities, Cornea Guttata, and Corectopia 11
47 GNT138 Genetic Intestinal Polyposis 11
48 MST008 Mastocytic Enterocolitis 11
49 GST101 Gastric Sneezing 9
50 PLY151 Polyposis, Intestinal, Scattered and Discrete 8
51 GST003 Gastrin Secretion Abnormality 6
52 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
53 HLC007 Helicobacter Pylori Infection 67
54 TYP007 Typhoid Fever 63
55 BLN004 Balantidiasis 31
56 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 23
57 APH015 Aphalangy with Hemivertebrae 18
58 RCT015 Reactive Arthritis 60
59 ASP007 Aspiration Pneumonia 49
60 P OMP004 Omphalocele 47
61 GRD001 Giardiasis 46
62 CNG016 Congenital Intrinsic Factor Deficiency 37
63 INT088 Intrinsic Factor Deficiency 34
64 YSY001 Yao Syndrome 34
65 CLN022 Colonic Atresia 25
66 c LCT011 Lactose Intolerance, Adult Type 25
67 c OMP009 Omphalocele, Autosomal 20
68 HYD053 Hydrocephalus with Associated Malformations 20
69 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 19
70 c HRD010 Hereditary Spastic Paraplegia 65
71 P CTS001 Cutis Laxa 64
72 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63
73 CHL014 Cholera 62
74 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
75 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
76 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
77 ENT011 Enterocolitis 55
78 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
79 TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 52
80 c CTS045 Cutis Laxa, Autosomal Dominant 1 52
81 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
82 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51
83 TRC010 Trichotillomania 51
84 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
85 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
86 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
87 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 49
88 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 49
89 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 49
90 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
91 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
92 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
93 c CTS041 Cutis Laxa, Autosomal Dominant 3 46
94 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45
95 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 45
96 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 45
97 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
98 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
99 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 44
100 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
101 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 44
102 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
103 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 43
104 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 43
105 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
106 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 43
107 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 42
108 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
109 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 42
110 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 42
111 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
112 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
113 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41
114 c CTS031 Cutis Laxa, Autosomal Dominant 2 41
115 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 41
116 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
117 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
118 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
119 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40
120 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
121 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 39
122 ANC001 Ancylostomiasis 39
123 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
124 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 39
125 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
126 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
127 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 38
128 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
129 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38
130 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
131 c SPS092 Spastic Paraplegia 11 37
132 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
133 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37
134 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
135 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 36
136 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
137 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
138 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 33
139 P SPS012 Spastic Paraplegia 3a 33
140 c SPS036 Spastic Paraplegia 3 32
141 c ATP003 Atp6v0a2-Related Cutis Laxa 32
142 c HRD220 Hereditary Spastic Paraplegia 30 32
143 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 32
144 c HRD186 Hereditary Spastic Paraplegia 51 31
145 c SPS013 Spastic Paraplegia 8 31
146 c SPS039 Spastic Paraplegia 5a 31
147 c SPS025 Spastic Paraplegia 15 30
148 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
149 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
150 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 30
151 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
152 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
153 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
154 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
155 CYS011 Cystoisosporiasis 29
156 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 28
157 c SPS091 Spastic Paraplegia 4 28
158 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
159 c SPS021 Spastic Paraplegia 10 28
160 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 28
161 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
162 c HRD188 Hereditary Spastic Paraplegia 72 28
163 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
164 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
165 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
166 c SPS041 Spastic Paraplegia 6 26
167 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
168 c SPS027 Spastic Paraplegia 17 25
169 c ACQ027 Acquired Cutis Laxa 25
170 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
171 ENT007 Enteropathica 25
172 c FBL003 Fbln5-Related Cutis Laxa 25
173 c HRD210 Hereditary Spastic Paraplegia 23 24
174 c EFM001 Efemp2-Related Cutis Laxa 23
175 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
176 c LTB003 Ltbp4-Related Cutis Laxa 23
177 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
178 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 22
179 c SPS038 Spastic Paraplegia 39 22
180 FSC003 Fasciolopsiasis 22
181 c SPS042 Spastic Paraplegia 9 22
182 c SPS023 Spastic Paraplegia 13 21
183 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 20
184 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 19
185 CHL076 Chilaiditi Syndrome 18
186 c SPS022 Spastic Paraplegia 12 18
187 c SPS028 Spastic Paraplegia 18 17
188 c SPS034 Spastic Paraplegia 26 17
189 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
190 THK001 Thakker-Donnai Syndrome 15
191 c SPS032 Spastic Paraplegia 24 15
192 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
193 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
194 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
195 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
196 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
197 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 14
198 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
199 c SPS029 Spastic Paraplegia 19 14
200 c SPS035 Spastic Paraplegia 29 13
201 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
202 c SPS024 Spastic Paraplegia 14 12
203 c SPS165 Spastic Paraplegia 47 12
204 c SPS161 Spastic Paraplegia 32 12
205 GST055 Gastric Duplication Cysts 11
206 c SPS026 Spastic Paraplegia 16 11
207 c SPS033 Spastic Paraplegia 25 11
208 INT357 Intestinal Malformation 11
209 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 11
210 DGS007 Digestive Duplication 10
211 CNG535 Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome 9
212 CLN048 Colonic Varices Without Portal Hypertension 9
213 DVR008 Diverticulosis, Small-Intestinal 8
214 HMN039 Hemangiomas of Small Intestine 8
215 CLN023 Colonic Malakoplakia 8
216 c SPS040 Spastic Paraplegia 5b 7
217 DGS009 Digestive Tract Malformation 7
218 PLY152 Polyposis, Intestinal, with Multiple Exostoses 7
219 GST102 Gastric Volvulus, Intrathoracic 7
220 PRM033 Paraomphalocele 7
221 INV020 Invasive Infections Due to Vancomycin-Resistant Enterococci 7
222 BNG088 Benign Infantile Seizures Associated with Mild Gastroenteritis 6
223 GST110 Gastroduodenal Malformation 6
224 MCP018 Mcpherson Clemens Syndrome 5
225 SYN160 Syndromic Intestinal Malformation 4
226 GST104 Gastric Juice Peptides 4
227 SYN163 Syndromic Gastroduodenal Malformation 3
228 P GNT054 Genetic Intestinal Disease 3
229 RRG002 Rare Genetic Gastroenterological Disease 3
230 NNS067 Non-Syndromic Gastroduodenal Malformation 3
231 NNS068 Non-Syndromic Intestinal Malformation 3
232 GNT053 Genetic Gastro-Esophageal Disease 2
233 GNT074 Genetic Digestive Tract Malformation 2
234 GNT113 Genetic Digestive Tract Tumor 2
235 c GNT140 Genetic Intestinal Disease Due to Fat Malabsorption 2
236 FTL017 Fetal Enterovirus Syndrome 2
237 ENT009 Enterovirus Antenatal Infection 1
238 P BLD062 Bile Duct Cancer 69
239 ABT001 Abetalipoproteinemia 68
240 LVR012 Liver Cirrhosis 62
241 ESP020 Esophageal Atresia 59
242 ING001 Inguinal Hernia 59
243 CHL067 Cholecystitis 59
244 P ESP035 Esophagitis, Eosinophilic, 1 57
245 c CHL119 Cholangitis, Primary Sclerosing 57
246 MTH009 Mouth Disease 57
247 ALV002 Alveolar Echinococcosis 56
248 CNS004 Constipation 56
249 CRY003 Cryptosporidiosis 55
250 VSC003 Visceral Leishmaniasis 54
251 P STS003 Sitosterolemia 53
252 DYS073 Dysphagia 53
253 CRH005 Crohn's Colitis 53
254 DNT012 Dental Caries 53
255 DRR008 Diarrhea 1, Secretory Chloride, Congenital 52
256 P CHL066 Cholangitis 51
257 PRS127 Pearson Marrow-Pancreas Syndrome 51
258 ESP002 Esophageal Varix 51
259 ANS012 Anus Disease 49
260 GNG012 Gingival Overgrowth 49
261 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 49
262 P OBS001 Obstructive Jaundice 49
263 PRC003 Proctitis 49
264 ILT001 Ileitis 49
265 HPT009 Hepatopulmonary Syndrome 48
266 PYL006 Pyloric Stenosis 48
267 CHL004 Cholelithiasis 48
268 UMB002 Umbilical Hernia 46
269 MCR191 Microscopic Colitis 46
270 ANG002 Angiostrongyliasis 46
271 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
272 CHR667 Chromosome 3pter-P25 Deletion Syndrome 44
273 MGS001 Megaesophagus 44
274 PRL008 Paralytic Ileus 44
275 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 44
276 GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 43
277 c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 43
278 SRR001 Serrated Polyposis Syndrome 43
279 ILC002 Ileocolitis 42
280 PCH007 Pouchitis 42
281 DYS011 Dyskinesia of Esophagus 41
282 P HYP009 Hypertrophic Pyloric Stenosis 41
283 VLL006 Villous Adenoma 40
284 FNC002 Functional Diarrhea 39
285 MCK029 Meckel Diverticulum 38
286 SPP003 Suppurative Periapical Periodontitis 38
287 DDN027 Duodenum Disease 37
288 CHL013 Cholecystolithiasis 37
289 PST035 Postgastrectomy Syndrome 37
290 TXC001 Toxic Megacolon 37
291 DRR013 Diarrhea 8, Secretory Sodium, Congenital 36
292 c INT059 Internal Hemorrhoid 36
293 c ACT036 Acute Cholangitis 35
294 SCR003 Secretory Diarrhea 35
295 c PYL018 Pyloric Stenosis, Infantile Hypertrophic, 1 35
296 ANR003 Anorectal Stricture 34
297 PPT002 Peptic Ulcer Perforation 34
298 ACL001 Acalculous Cholecystitis 34
299 CCL002 Cecal Disease 34
300 GRN009 Granulomatous Hepatitis 34
301 CHM005 Chemical Colitis 34
302 DDN009 Duodenal Obstruction 34
303 PST030 Postcholecystectomy Syndrome 33
304 APP018 Appendix Disease 33
305 DNT010 Dentin Caries 32
306 c CHR013 Chronic Apical Periodontitis 32
307 JJN008 Jejunoileitis 32
308 CPP003 Cap Polyposis 31
309 DDN004 Duodenogastric Reflux 31
310 HPT006 Hepatic Angiomyolipoma 31
311 c WRD010 Waardenburg Syndrome Type 4 31
312 GLL029 Gallbladder Adenoma 30
313 c ATM113 Autoimmune Cholangitis 30
314 ANL005 Anal Spasm 30
315 c INF088 Inflammatory Bowel Disease 5 29
316 AFF001 Afferent Loop Syndrome 29
317 HTR001 Heterophyiasis 28
318 c INF078 Inflammatory Bowel Disease 2 28
319 EMP002 Emphysematous Cholecystitis 28
320 DVR006 Diversion Colitis 28
321 c INF089 Inflammatory Bowel Disease 6 28
322 c ATM111 Autoimmune Hepatitis Type 2 28
323 SQM005 Squamous Papillomatosis 27
324 OSM001 Osmotic Diarrhea 27
325 PRC008 Pericholangitis 27
326 ASC003 Ascending Cholangitis 26
327 OTL001 Outlet Dysfunction Constipation 26
328 P ACT046 Acute Apical Periodontitis 25
329 ESP008 Esophageal Leukoplakia 25
330 MCC004 Mucocele of Appendix 25
331 c INF074 Inflammatory Bowel Disease 15 25
332 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 24
333 HYD004 Hydrops of Gallbladder 24
334 c DPH016 Diaphragmatic Hernia 3 24
335 SGM001 Sigmoid Disease 24
336 c INF082 Inflammatory Bowel Disease 23 24
337 c DRR021 Diarrhea 11, Malabsorptive, Congenital 23
338 PYL002 Pylorospasm 23
339 SPP004 Suppurative Cholangitis 23
340 DDN022 Duodenum Adenoma 23
341 c INF072 Inflammatory Bowel Disease 11 23
342 c INF162 Inflammatory Bowel Disease 25 23
343 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
344 PLP002 Pulp Degeneration 23
345 DSP001 Displacement of Cardia Through Esophageal Hiatus 23
346 FNG003 Fungal Esophagitis 23
347 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
348 UND004 Undetermined Colitis 22
349 GCG001 Gcgr-Related Hyperglucagonemia 21
350 OCC004 Occlusion of Gallbladder 21
351 CHR009 Chronic Duodenal Ileus 21
352 MCK004 Meckel's Diverticulitis 20
353 RCT035 Rectum Adenoma 20
354 ANL009 Anal Canal Paget's Disease 19
355 c INF079 Inflammatory Bowel Disease 20 18
356 c INF084 Inflammatory Bowel Disease 26 18
357 c DPH025 Diaphragmatic Hernia 2 17
358 STR003 Strawberry Gallbladder 15
359 CTN018 Cutaneous Photosensitivity and Colitis, Lethal 14
360 ESP003 Esophageal Lipoma 14
361 PRT107 Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia 14
362 c ESP034 Esophagitis, Eosinophilic, 2 14
363 ESP017 Esophageal Diverticulosis 13
364 c PYL011 Pyloric Stenosis, Infantile Hypertrophic, 5 12
365 MTL001 Motility-Related Diarrhea 12
366 RCT016 Rectum Leiomyosarcoma 12
367 APP005 Appendix Leiomyoma 10
368 c PLV014 Pelvic Organ Prolapse 2 10
369 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 10
370 ESP007 Esophagus Liposarcoma 9
371 c PYL008 Pyloric Stenosis, Infantile Hypertrophic, 2 9
372 FBR006 Fibroepithelial Polyp of the Anus 9
373 BTH003 Bothriocephalosis 9
374 c PYL010 Pyloric Stenosis, Infantile Hypertrophic, 4 8
375 c PYL009 Pyloric Stenosis, Infantile Hypertrophic, 3 8
376 RCT004 Rectum Leiomyoma 8
377 ODN001 Odontoclasia 8
378 LPM003 Lipoma of the Rectum 8
379 GNC009 Gonococcal Seminal Vesiculitis 8
380 ESP019 Esophagus Leiomyosarcoma 7
381 c SSC054 Susceptibility to Localized Juvenile Periodontitis 7
382 ULC002 Ulcer of Anus and Rectum 6
383 P SMN001 Seminal Vesicle Acute Gonorrhea 5
384 EPT030 Epithelial Tumor of the Appendix 5
385 LCL008 L-Cell Glucagon-Like Peptide Producing Tumor 5
386 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
387 DPH005 Diphtheritic Peritonitis 4
388 HGH022 High-Grade Dysplasia in Patients with Barrett Esophagus 4
389 ILL006 Ileal Pouch Anal Anastomosis Related Faecal Incontinence 3
390 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
391 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
392 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
393 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
394 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44
395 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
396 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
397 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
398 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 42
399 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
400 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
401 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
402 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 69
403 CRC014 Carcinoid Tumors, Intestinal 46
404 c CLR041 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 36
405 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 31
406 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
407 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
408 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
409 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
410 c MTC060 Mitochondrial Dna Depletion Syndrome 9 51
411 c MTC059 Mitochondrial Dna Depletion Syndrome 5 49
412 c MTC061 Mitochondrial Dna Depletion Syndrome 1 49
413 c MTC058 Mitochondrial Dna Depletion Syndrome 6 48
414 P MTC010 Mitochondrial Dna Depletion Syndrome 46
415 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
416 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
417 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
418 CLD014 Cole Disease 39
419 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
420 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
421 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 29
422 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
423 c MTC182 Mitochondrial Dna Depletion Syndrome 16 25
424 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
425 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 23
426 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
427 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
428 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
429 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 19
430 c MTC014 Mitochondrial Dna Deletion Syndromes 16
431 GST107 Gastric Non-Hodgkin Lymphoma 15
432 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 9
433 c CLR055 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 39
434 MRT009 Martinez-Frias Syndrome 21
435 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 5
436 EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 54
437 ATN024 Autoinflammation, Immune Dysregulation, and Eosinophilia 22
438 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 16
439 BLD014 Bladder Colonic Type Adenocarcinoma 5
440 IMM154 Immunoglobulin a Deficiency 1 45
441 PRM237 Primary Hypomagnesemia 44
442 PLG002 Plague 58
443 PRS034 Parasitic Helminthiasis Infectious Disease 50
444 P CLR037 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 49
445 CYC008 Cyclic Vomiting Syndrome 46
446 DHY011 Dihydropyrimidinase Deficiency 45
447 BLC012 Bile Acid Malabsorption, Primary 45
448 CRN055 Carney Triad 44
449 c CLR039 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 40
450 c CLR089 Colorectal Cancer, Hereditary Nonpolyposis, Type 8 38
451 PNC016 Pancreatic Cholera 32
452 c CLR100 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 26
453 ACC005 Accessory Pancreas 19
454 CYS013 Cystinuria 66
455 CCC001 Coccidioidomycosis 57
456 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 50
457 FCH001 Fuchs' Endothelial Dystrophy 48
458 MLK006 Milk Allergy 47
459 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 46
460 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 45
461 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 44
462 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 43
463 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 40
464 SWL001 Swallowing Disorders 37
465 c GMM003 Gamma Heavy Chain Disease 37
466 c ALP005 Alpha Chain Disease 34
467 P HVY001 Heavy Chain Disease 32
468 PNC027 Pancreatic Gastrinoma 30
469 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 29
470 c ALP087 Alpha-Heavy Chain Disease 28
471 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 26
472 c HNN004 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 23
473 c HNN006 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 23
474 P MCH003 Mu Chain Disease 21
475 c SPS230 Spastic Paraplegia Type 49 10
476 LKM072 Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer 10
477 c DLT001 Delta Chain Disease 3
478 GST109 Gastroenteric Neuroendocrine Neoplasm 3
479 STL002 Stalker Chitayat Syndrome 3
480 CRH001 Crohn's Disease 80
481 GST019 Gastrointestinal Stromal Tumor 78
482 P LYN001 Lynch Syndrome 76
483 c ATM006 Autoimmune Lymphoproliferative Syndrome 75
484 ULC004 Ulcerative Colitis 74
485 P CHR012 Chronic Granulomatous Disease 69
486 ADN011 Adenoid Cystic Carcinoma 68
487 P CLC063 Celiac Disease 1 65
488 IRR002 Irritable Bowel Syndrome 64
489 PRP083 Porphyria, Acute Intermittent 64
490 CLT003 Colitis 63
491 APP008 Appendicitis 62
492 CHL068 Cholestasis 61
493 ALC006 Alcoholic Hepatitis 61
494 P NSP012 Nasopharyngeal Carcinoma 60
495 P WRD001 Waardenburg's Syndrome 60
496 c INT072 Intestinal Pseudo-Obstruction 60
497 P ESP024 Esophagitis 60
498 MGL001 Megaloblastic Anemia 59
499 GNG013 Gingivitis 59
500 PPT005 Peptic Ulcer Disease 58
501 P INT070 Intestinal Obstruction 57
502 P DRR001 Diarrhea 55
503 MCS002 Mucositis 55
504 ACT058 Active Peptic Ulcer Disease 55
505 GST050 Gastrointestinal System Disease 55
506 P GST044 Gastritis 55
507 P DRM007 Dermatitis Herpetiformis 54
508 ALC009 Alcoholic Liver Cirrhosis 54
509 P HRD144 Hereditary Mixed Polyposis Syndrome 54
510 P RCT021 Rectum Cancer 54
511 P INF037 Inflammatory Bowel Disease 53
512 P INT068 Intestinal Disease 53
513 INT051 Intussusception 53
514 MCN017 Meconium Ileus 52
515 c PRD040 Periodontitis, Chronic 52
516 GST023 Gastric Ulcer 52
517 ESP023 Esophageal Disease 52
518 PPT001 Peptic Esophagitis 51
519 INT017 Intestinal Schistosomiasis 51
520 GNG003 Gingival Recession 50
521 P ATR005 Atrophic Gastritis 50
522 DYS015 Dysentery 49
523 DDN006 Duodenitis 49
524 VTM033 Vitamin K Deficiency Bleeding 49
525 ILS001 Ileus 49
526 RCT017 Rectal Disease 49
527 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
528 INT071 Intestinal Perforation 49
529 CLS016 Clostridium Difficile Colitis 49
530 BLD044 Bladder Disease 48
531 RCT020 Rectum Adenocarcinoma 48
532 PLP001 Pulpitis 48
533 MGC001 Megacolon 48
534 STM006 Stomach Disease 47
535 CLN019 Colonic Disease 47
536 HRN026 Hernia, Hiatus 46
537 GLS007 Glossitis 46
538 DVR002 Diverticulitis 46
539 c DRR009 Diarrhea 6 46
540 LCT013 Lactase Deficiency, Congenital 46
541 WHP001 Whipple Disease 45
542 SGW002 Segawa Syndrome, Autosomal Recessive 44
543 APP010 Appendix Cancer 44
544 PRT019 Protein-Losing Enteropathy 44
545 CLN044 Colon Adenoma 44
546 DNT006 Dental Pulp Necrosis 43
547 P BLD036 Bile Duct Disease 43
548 DMP001 Dumping Syndrome 43
549 ISC015 Ischemic Colitis 43
550 DNT001 Dental Fluorosis 43
551 BLD063 Bile Duct Cysts 42
552 ANG011 Angiodysplasia 42
553 ENT001 Enterocele 42
554 DRG002 Drug-Induced Hepatitis 42
555 GLL017 Gallbladder Adenocarcinoma 42
556 AMP013 Ampulla of Vater Cancer 42
557 ANL004 Anal Canal Squamous Cell Carcinoma 41
558 GST013 Gastrojejunal Ulcer 41
559 EXT006 Extrahepatic Cholestasis 41
560 c BRD021 Bardet-Biedl Syndrome 9 40
561 INT060 Intestinal Atresia 40
562 c ATM101 Autoimmune Gastritis 40
563 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
564 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 40
565 c ACT004 Acute Diarrhea 40
566 TRP004 Tropical Sprue 39
567 MYH016 Myh-Associated Polyposis 39
568 BLR002 Bile Reflux 38
569 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
570 c INF161 Inflammatory Bowel Disease 28 38
571 P DRR005 Diarrhea 4, Malabsorptive, Congenital 38
572 c INF076 Inflammatory Bowel Disease 18 38
573 ADN013 Adenoid Squamous Cell Carcinoma 38
574 DDN003 Duodenum Adenocarcinoma 37
575 CHL039 Choledocholithiasis 37
576 BRR002 Barrett's Adenocarcinoma 37
577 GST039 Gastroduodenitis 37
578 BLR004 Biliary Dyskinesia 37
579 ESP025 Esophagus Adenocarcinoma 37
580 HPT008 Hepatic Tuberculosis 37
581 AMP009 Ampulla of Vater Adenocarcinoma 36
582 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 36
583 JJN003 Jejunal Cancer 35
584 c DRM040 Dermatitis Herpetiformis, Familial 35
585 HMN004 Hemangioma of Liver 34
586 ESN004 Eosinophilic Gastritis 34
587 ESP001 Esophageal Tuberculosis 34
588 P ATM020 Autoimmune Enteropathy 34
589 ALV001 Alveolar Periostitis 34
590 ANL014 Anal Canal Adenocarcinoma 34
591 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 33
592 RFR013 Refractory Celiac Disease 33
593 RTC003 Root Caries 33
594 EPS001 Epstein-Barr Virus Hepatitis 32
595 TTH030 Teeth, Supernumerary 32
596 PNM003 Pneumatosis Cystoides Intestinalis 32
597 HPT081 Hepatic Infarction 32
598 INT049 Intrahepatic Bile Duct Adenoma 32
599 AMP014 Ampulla of Vater Benign Neoplasm 32
600 c INF075 Inflammatory Bowel Disease 16 31
601 c INF085 Inflammatory Bowel Disease 27 31
602 ESP014 Esophagus Leiomyoma 31
603 GST090 Gastroduodenal Crohn's Disease 31
604 JJN007 Jejunal Adenocarcinoma 31
605 CLN006 Colonic Pseudo-Obstruction 31
606 NRG001 Neurogenic Bowel 31
607 LVR010 Liver Leiomyosarcoma 30
608 PRM190 Periampullary Adenoma 30
609 BLR005 Biliary Papillomatosis 30
610 CLN011 Colon Leiomyoma 30
611 c CNG478 Congenital Diarrhea 30
612 c INF086 Inflammatory Bowel Disease 3 30
613 c CMM007 Common Bile Duct Disease 30
614 GST006 Gastric Leiomyoma 30
615 GST007 Gastric Dilatation 29
616 BYL001 Baylisascariasis 29
617 LWR001 Lower Lip Cancer 29
618 GST018 Gastrointestinal Tularemia 29
619 APP013 Appendix Carcinoid Tumor 29
620 c PLY066 Polyposis Syndrome, Hereditary Mixed, 2 28
621 TMP019 Temporomandibular Joint Anomaly 28
622 FNC006 Functional Gastric Disease 28
623 IDP093 Idiopathic Gastroparesis 28
624 HYP021 Hypercementosis 28
625 DDN005 Duodenal Somatostatinoma 28
626 ACT062 Acute Pericementitis 28
627 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 27
628 ILM001 Ileum Cancer 27
629 TTH005 Teeth Hard Tissue Disease 27
630 CCM001 Cecum Adenocarcinoma 26
631 MCR310 Microgastria-Limb Reduction Defects Association 26
632 GRN011 Granulomatous Gastritis 26
633 DVL021 Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities 26
634 MCC003 Mucocele of Salivary Gland 26
635 MCN005 Mucinous Intrahepatic Cholangiocarcinoma 26
636 MDN001 Median Rhomboid Glossitis 26
637 ESP012 Esophageal Adenoid Cystic Carcinoma 26
638 CPL001 Capillariasis 26
639 GLL016 Gallbladder Leiomyosarcoma 25
640 PLY003 Polycystic Echinococcosis 25
641 CSC001 Cascade Stomach 25
642 ZNC004 Zinc Deficiency, Transient Neonatal 25
643 GLL021 Gallbladder Sarcoma 25
644 PRD003 Periodontosis 25
645 PLY114 Polyglucosan Body Myopathy 2 25
646 CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 25
647 c INF073 Inflammatory Bowel Disease 12 25
648 c INF092 Inflammatory Bowel Disease 9 25
649 XNT002 Xanthogranulomatous Cholecystitis 25
650 c CHR036 Chronic Cholangitis 24
651 ANS010 Anus Adenocarcinoma 24
652 c DRR018 Diarrhea 9 24
653 c JVN011 Juvenile Dermatitis Herpetiformis 24
654 SND005 Sandifer Syndrome 24
655 NTM001 Nutmeg Liver 24
656 ACQ006 Acquired Gastric Outlet Stenosis 24
657 PNC018 Pancreatic Serous Cystadenoma 24
658 P STR035 Streptococcal Group a Invasive Disease 24
659 DVR001 Diverticulitis of Colon 24
660 c INF087 Inflammatory Bowel Disease 4 24
661 c HRS029 Hirschsprung Disease 4 24
662 ESN022 Eosinophilic Colitis 24
663 GLL051 Gallbladder Benign Neoplasm 24
664 ESP016 Esophagus Melanoma 24
665 OSP001 Oesophagostomiasis 24
666 ANG012 Angiodysplasia of Intestine 24
667 GLL004 Gallbladder Papillary Carcinoma 23
668 c INF090 Inflammatory Bowel Disease 7 23
669 CRT011 Carotenemia 23
670 CCM005 Cecum Adenoma 23
671 CLC003 Cloacogenic Carcinoma 23
672 GLL011 Gallbladder Leiomyoma 23
673 c BCT001 Bacterial Esophagitis 23
674 LVR001 Liver Lipoma 22
675 FNC005 Functional Colonic Disease 22
676 NCR005 Necrotizing Gastritis 22
677 TRH001 Trehalase Deficiency 22
678 ECH001 Echinostomiasis 21
679 ANL006 Anal Paget's Disease 21
680 INT050 Intestinal Impaction 21
681 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 20
682 c CLC046 Celiac Disease 5 20
683 MNC020 Monoclonal Mast Cell Activation Syndrome 20
684 LRG007 Large Intestine Lipoma 20
685 MCP008 Mucoepidermoid Esophageal Carcinoma 20
686 c INF080 Inflammatory Bowel Disease 21 20
687 c ATM060 Autoimmune Atrophic Gastritis 19
688 c VRL006 Viral Esophagitis 19
689 ALC012 Alcoholic Gastritis 19
690 SML005 Small Intestine Diverticulitis 19
691 c INF083 Inflammatory Bowel Disease 24 19
692 ADN005 Adenosquamous Gallbladder Carcinoma 18
693 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 18
694 c INF081 Inflammatory Bowel Disease 22 18
695 MXD007 Mixed Hepatoblastoma 18
696 GLT030 Gluten Allergy 18
697 P GST043 Gastric Teratoma 18
698 ACN005 Acanthocephaliasis 18
699 c INF091 Inflammatory Bowel Disease 8 17
700 HMR013 Hemorrhagic Proctocolitis 17
701 c HRS027 Hirschsprung Disease 5 17
702 GLS013 Glossodynia 17
703 ADN072 Adenoma of Pancreas 17
704 CNG480 Congenital Diarrhea 7 with Exudative Enteropathy 16
705 LVR009 Liver Rhabdomyosarcoma 16
706 SLT007 Solitary Rectal Ulcer Syndrome 16
707 PCS003 Pacs1 Syndrome 16
708 GLL006 Gallbladder Papillomatosis 16
709 c CLC040 Celiac Disease 6 15
710 ORP001 Oropharyngeal Anthrax 15
711 c CLC045 Celiac Disease 2 15
712 c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 15
713 HRS038 Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features 15
714 JCK003 Jackhammer Esophagus 15
715 c CLC047 Celiac Disease 8 14
716 c CLC043 Celiac Disease 11 14
717 c CLC044 Celiac Disease 12 14
718 c CLC042 Celiac Disease 9 14
719 LVR008 Liver Fibrosarcoma 13
720 c CRN122 Corneal Dystrophy, Fuchs Endothelial, 7 13
721 PRF001 Perforation of Bile Duct 13
722 c CLC041 Celiac Disease 7 13
723 c GLL026 Gallbladder Disease 3 13
724 NRN032 Neuroendocrine Tumor of Anal Canal 12
725 MTR006 Mature Gastric Teratoma 11
726 RCT002 Rectum Lymphoma 11
727 BLD037 Bile Duct Rhabdomyosarcoma 11
728 c DDN013 Duodenal Ulcer Due to Antral G-Cell Hyperfunction 10
729 GLL014 Gallbladder Rhabdomyosarcoma 10
730 FNG002 Fungal Gastritis 10
731 UND008 Undifferentiated Carcinoma of Esophagus 10
732 NRF005 Neurofibroma of Gallbladder 10
733 NRF004 Neurofibroma of the Esophagus 9
734 GLL003 Gallbladder Lipoma 9
735 c RCT010 Rectum Carcinoma in Situ 9
736 GLL002 Gallbladder Angiosarcoma 9
737 CVR004 Cavernous Hemangioma of Colon 9
738 ANL001 Anal Colloid Adenocarcinoma 8
739 ESP013 Esophagus Squamous Cell Papilloma 8
740 MCK001 Meckel's Diverticulum Cancer 8
741 TNS006 Tonsillar Pillar Cancer 8
742 EXT013 Extrahepatic Bile Duct Leiomyoma 8
743 XLN242 X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction 8
744 AMP004 Ampulla of Vater Adenosquamous Carcinoma 8
745 c RRN022 Rare Inflammatory Bowel Disease 8
746 END008 Endometriosis of Intestine 7
747 LRG006 Large Bowel Leiomyoma 7
748 HRP003 Herpetic Gastritis 7
749 SML012 Small Bowel Fibrosarcoma 7
750 EXT017 Extrahepatic Bile Duct Papillary Adenoma 7
751 c JND003 Jaundice, Familial Obstructive, of Infancy 7
752 RCT012 Rectum Rhabdomyosarcoma 7
753 RCT014 Rectum Kaposi's Sarcoma 7
754 PST031 Postcricoid Region Cancer 7
755 CLS051 Classic Neuroendocrine Tumor of Appendix 6
756 ARY001 Aryepiglottic Fold Cancer 6
757 VST002 Vestibule of Mouth Cancer 6
758 ANS005 Anus Leiomyoma 6
759 PRN012 Perianal Skin Paget's Disease 6
760 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 6
761 ANS008 Anus Rhabdomyosarcoma 6
762 SGN003 Signet Ring Cell Intrahepatic Cholangiocarcinoma 6
763 STM002 Stomach Diverticulosis 5
764 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 5
765 MYP066 Myopathic Intestinal Pseudoobstruction 5
766 c ALP111 Alpi-Related Inflammatory Bowel Disease 4
767 MSN013 Mesenchymal Tumor of Small Intestine 4
768 GLL005 Gallbladder Pleomorphic Giant Cell Adenocarcinoma 3
769 UNC010 Unclassified Intestinal Pseudoobstruction 3
770 PRM343 Primary Desmosis Coli 3
771 IMM213 Immune Dysregulation with Inflammatory Bowel Disease 3
772 DSR054 Disorder of Lipid Absorption and Transport 3
773 EPT031 Epithelial Tumor of Anal Canal 2
774 c STR036 Streptococcal Group B Invasive Disease 1
775 ABC001 Abcd Syndrome 44
776 DGS006 Digestive Duplication Cyst of the Tongue 8
777 P CND004 Candidiasis 57
778 c CND034 Candidiasis, Familial, 2 41
779 c CND037 Candidiasis, Familial, 6 35
780 c CND033 Candidiasis, Familial, 1 27
781 c CND025 Candidiasis, Familial, 8 26
782 c CND036 Candidiasis, Familial, 4 25
783 c CND031 Candidiasis, Familial, 9 22
784 c CND027 Candidiasis, Familial, 3 17
785 MCK005 Mckusick-Kaufman Syndrome 61
786 ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 55
787 P PTT006 Pituitary Adenoma 55
788 c PTT056 Pituitary Adenoma 1, Multiple Types 53
789 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 50
790 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 49
791 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
792 c MNT242 Mental Retardation, Autosomal Dominant 40 44
793 CLB003 Coloboma of Optic Nerve 44
794 P MNT185 Mental Retardation, Autosomal Dominant 7 44
795 c MNT319 Mental Retardation, Autosomal Dominant 20 42
796 c MNT245 Mental Retardation, Autosomal Dominant 36 42
797 c PTT060 Pituitary Adenoma 5, Multiple Types 40
798 c MNT240 Mental Retardation, Autosomal Dominant 33 39
799 c MNT262 Mental Retardation, Autosomal Dominant 42 38
800 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 38
801 EPD025 Epidermolysis Bullosa with Pyloric Atresia 36
802 c MNT212 Mental Retardation, Autosomal Dominant 26 36
803 c MNT222 Mental Retardation, Autosomal Dominant 29 36
804 c MNT179 Mental Retardation, Autosomal Dominant 21 36
805 c MNT211 Mental Retardation, Autosomal Dominant 23 35
806 c MNT332 Mental Retardation, Autosomal Dominant 56 35
807 c MNT143 Mental Retardation, Autosomal Dominant 13 35
808 c MNT226 Mental Retardation, Autosomal Dominant 31 35
809 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
810 c CNG002 Congenital Bile Acid Synthesis Defect 33
811 c MNT219 Mental Retardation, Autosomal Dominant 30 32
812 c MNT186 Mental Retardation, Autosomal Dominant 10 32
813 c MNT158 Mental Retardation, Autosomal Dominant 22 32
814 c PTT061 Pituitary Adenoma 3, Multiple Types 32
815 c MNT239 Mental Retardation, Autosomal Dominant 35 31
816 c MNT246 Mental Retardation, Autosomal Dominant 38 31
817 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 30
818 c MNT270 Mental Retardation, Autosomal Recessive 53 30
819 c MNT145 Mental Retardation, Autosomal Recessive 5 30
820 c MNT183 Mental Retardation, Autosomal Recessive 36 29
821 c MNT210 Mental Retardation, Autosomal Recessive 42 28
822 c MNT166 Mental Retardation, Autosomal Recessive 39 28
823 c MNT216 Mental Retardation, Autosomal Recessive 41 27
824 c MNT279 Mental Retardation, Autosomal Dominant 47 27
825 c MNT213 Mental Retardation, Autosomal Recessive 40 27
826 c MNT280 Mental Retardation, Autosomal Dominant 43 27
827 c MNT323 Mental Retardation, Autosomal Dominant 48 26
828 c MNT334 Mental Retardation, Autosomal Dominant 57 26
829 c MNT321 Mental Retardation, Autosomal Recessive 37 26
830 c MNT176 Mental Retardation, Autosomal Recessive 38 26
831 c MNT155 Mental Retardation, Autosomal Recessive 2 26
832 c MNT234 Mental Retardation, Autosomal Recessive 48 26
833 c MNT236 Mental Retardation, Autosomal Dominant 39 25
834 c MNT328 Mental Retardation, Autosomal Dominant 52 25
835 c MNT184 Mental Retardation, Autosomal Dominant 11 25
836 c MNT325 Mental Retardation, Autosomal Recessive 61 24
837 c MNT329 Mental Retardation, Autosomal Dominant 53 24
838 c MNT272 Mental Retardation, Autosomal Dominant 41 24
839 c MNT287 Mental Retardation, Autosomal Recessive 57 24
840 c MNT286 Mental Retardation, Autosomal Dominant 45 24
841 c MNT337 Mental Retardation, Autosomal Dominant 58 24
842 c MNT177 Mental Retardation, Autosomal Recessive 27 24
843 c MNT227 Mental Retardation, Autosomal Recessive 46 24
844 c MNT338 Mental Retardation, Autosomal Recessive 65 23
845 c MNT326 Mental Retardation, Autosomal Dominant 50 23
846 c MNT238 Mental Retardation, Autosomal Dominant 34 23
847 c MNT339 Mental Retardation, Autosomal Recessive 66 23
848 c MNT285 Mental Retardation, Autosomal Recessive 58 23
849 c MNT330 Mental Retardation, Autosomal Dominant 54 23
850 c MNT278 Mental Retardation, Autosomal Dominant 46 22
851 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
852 c MNT327 Mental Retardation, Autosomal Dominant 51 22
853 c MNT221 Mental Retardation, Autosomal Recessive 44 22
854 c MNT225 Mental Retardation, Autosomal Recessive 47 22
855 c MNT151 Mental Retardation, Autosomal Recessive 18 22
856 c MNT154 Mental Retardation, Autosomal Recessive 14 21
857 c MNT275 Mental Retardation, Autosomal Recessive 60 21
858 c MNT336 Mental Retardation, Autosomal Recessive 64 21
859 c MNT215 Mental Retardation, Autosomal Recessive 43 21
860 c MNT263 Mental Retardation, Autosomal Recessive 51 20
861 c MNT220 Mental Retardation, Autosomal Recessive 45 20
862 c MNT277 Mental Retardation, Autosomal Recessive 54 19
863 P DSR081 Disorder of Bile Acid Synthesis 19
864 c MNT181 Mental Retardation, Autosomal Recessive 35 19
865 c MNT264 Mental Retardation, Autosomal Recessive 52 19
866 c MNT281 Mental Retardation, Autosomal Recessive 59 19
867 c MNT243 Mental Retardation, Autosomal Recessive 50 18
868 c MNT335 Mental Retardation, Autosomal Recessive 63 18
869 c MNT284 Mental Retardation, Autosomal Recessive 56 18
870 c MNT172 Mental Retardation, Autosomal Recessive 25 16
871 c MNT180 Mental Retardation, Autosomal Recessive 33 15
872 c MNT162 Mental Retardation, Autosomal Recessive 24 15
873 c MNT163 Mental Retardation, Autosomal Recessive 30 15
874 c MNT161 Mental Retardation, Autosomal Recessive 29 15
875 c MNT167 Mental Retardation, Autosomal Recessive 16 15
876 c MNT165 Mental Retardation, Autosomal Recessive 28 15
877 c MNT182 Mental Retardation, Autosomal Recessive 19 14
878 c MNT170 Mental Retardation, Autosomal Recessive 23 14
879 c MNT160 Mental Retardation, Autosomal Recessive 31 13
880 c ATS394 Autosomal Dominant Mental Retardation 55 6
881 P CLR023 Colorectal Cancer 100
882 ESP021 Esophageal Cancer 84
883 SQM013 Squamous Cell Carcinoma, Head and Neck 75
884 P CWD010 Cowden Syndrome 70
885 P HRS035 Hirschsprung Disease 1 66
886 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65
887 PRT036 Peritonitis 65
888 DPR016 Depression 64
889 CHY002 Chylomicron Retention Disease 64
890 CLR108 Colorectal Adenoma 63
891 NPH091 Nephrolithiasis, Calcium Oxalate 61
892 P PNC044 Pancreatitis 61
893 c LYN004 Lynch Syndrome I 60
894 c MLT159 Multiple Endocrine Neoplasia, Type Iib 60
895 c ACT027 Acute Pancreatitis 60
896 INS001 Insulinoma 59
897 PRT013 Portal Hypertension 59
898 FBR086 Fibrolamellar Carcinoma 59
899 GST045 Gastroenteritis 58
900 P PLV020 Pelvic Organ Prolapse 57
901 BLR001 Biliary Atresia 55
902 CRC006 Carcinoid Syndrome 55
903 ESN005 Eosinophilic Gastroenteritis 55
904 HPT046 Hepatic Veno-Occlusive Disease 54
905 GST009 Gastroschisis 53
906 c WRD033 Waardenburg Syndrome, Type 2e 53
907 P DDN001 Duodenal Ulcer 52
908 PSD007 Pseudomyxoma Peritonei 52
909 c ATM024 Autoimmune Pancreatitis 52
910 PDT042 Pediatric Hepatocellular Carcinoma 51
911 PLM014 Pleomorphic Adenoma 51
912 IRN008 Iron Overload in Africa 50
913 MGC002 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 50
914 CMP002 Campylobacteriosis 50
915 P HMR005 Hemorrhoid 49
916 P SML016 Small Intestine Cancer 48
917 c LYM145 Lymphatic Malformation 5 48
918 c FML053 Familial Colorectal Cancer 48
919 MCP006 Mucoepidermoid Carcinoma 48
920 ESP018 Esophageal Candidiasis 47
921 RDT013 Radiation Proctitis 47
922 P SPR041 Spermatogenic Failure 6 47
923 c SPR086 Spermatogenic Failure 3 47
924 ANL022 Anal Fistula 47
925 RTR011 Retroperitoneal Fibrosis 47
926 c LYM144 Lymphatic Malformation 1 47
927 HYP082 Hypopharynx Cancer 47
928 TRP008 Tropical Calcific Pancreatitis 46
929 P SCL009 Sclerosing Cholangitis 46
930 c STS010 Sitosterolemia 1 46
931 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 46
932 c BRD033 Bardet-Biedl Syndrome 13 46
933 GST071 Gastrointestinal Carcinoma 46
934 ATN011 Autoinflammation with Infantile Enterocolitis 46
935 CRL004 Caroli Disease 46
936 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
937 ANK020 Ankyloglossia with or Without Tooth Anomalies 45
938 GLC036 Glucagonoma 45
939 P HYP733 Hypercalciuria, Absorptive, 2 45
940 ESP027 Esophagus Squamous Cell Carcinoma 45
941 KLT001 Klatskin's Tumor 45
942 CHR515 Chronic Atrial and Intestinal Dysrhythmia 44
943 TNG004 Tongue Disease 44
944 ANL017 Anal Squamous Cell Carcinoma 44
945 c INF145 Infantile Liver Failure Syndrome 1 44
946 c LYM150 Lymphatic Malformation 7 43
947 ACH015 Achalasia, Familial Esophageal 43
948 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 42
949 c SPR162 Spermatogenic Failure 50 42
950 c CNG413 Congenital Short Bowel Syndrome 42
951 c CLR085 Colorectal Cancer 1 42
952 c BRD044 Bardet-Biedl Syndrome 17 42
953 CLL021 Collagenous Colitis 41
954 CHR594 Chromosome 3q29 Deletion Syndrome 41
955 OPS001 Opisthorchiasis 41
956 c SPR043 Spermatogenic Failure 9 40
957 GNT001 Giant Cell Reparative Granuloma 40
958 PRM014 Periampullary Adenocarcinoma 39
959 ORL019 Oral Hairy Leukoplakia 39
960 INT046 Intestinal Tuberculosis 38
961 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38
962 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 38
963 NKC001 Nk-Cell Enteropathy 37
964 APP003 Appendiceal Neoplasm 37
965 ABD010 Abdominal Wall Defect 37
966 P LRG016 Large Intestine Adenocarcinoma 37
967 c FML311 Familial Colorectal Cancer Type X 37
968 PRG008 Paragonimiasis 37
969 SLV025 Salivary Gland Adenoma, Pleomorphic 37
970 RCT009 Rectosigmoid Cancer 37
971 c SPR118 Spermatogenic Failure 1 36
972 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 36
973 SLL001 Sialolithiasis 36
974 BLN006 Blind Loop Syndrome 35
975 ESP011 Esophagus Verrucous Carcinoma 35
976 BLD033 Bile Duct Adenoma 35
977 CCM004 Cecum Carcinoma 35
978 CHR067 Chronic Intestinal Vascular Insufficiency 34
979 GMC001 Gum Cancer 34
980 c STS011 Sitosterolemia 2 34
981 SML015 Small Intestinal Sarcoma 33
982 c SPR111 Spermatogenic Failure 16 33
983 c SPR061 Spermatogenic Failure 5 33
984 SML008 Small Intestine Lymphoma 33
985 PYR008 Pyriform Sinus Cancer 33
986 PLM049 Plummer Vinson Syndrome 33
987 CHL040 Cholangiolocellular Carcinoma 33
988 c BRD051 Bardet-Biedl Syndrome 20 32
989 GLL013 Gallbladder Lymphoma 32
990 c CLR077 Colorectal Cancer 10 32
991 LYM015 Lymphocytic Gastritis 32
992 c ATM112 Autoimmune Hepatitis Type 1 32
993 PLS002 Peliosis Hepatis 32
994 ESP006 Esophageal Adenosquamous Carcinoma 32
995 c LRG017 Large Intestine Cancer 32
996 c SPR113 Spermatogenic Failure 18 32
997 CCL003 Cecal Benign Neoplasm 32
998 BLR031 Biliary Tract Benign Neoplasm 32
999 c SPR042 Spermatogenic Failure 8 32
1000 c SPR088 Spermatogenic Failure 7 32
1001 ESP026 Esophagus Sarcoma 32
1002 ADN015 Adenoid Basal Cell Carcinoma 32
1003 BLD035 Bile Duct Cystadenoma 32
1004 ADN006 Adenosquamous Colon Carcinoma 32
1005 PNC002 Pancreatic Mucinous Cystadenoma 32
1006 c SPR089 Spermatogenic Failure 4 32
1007 GLL015 Gallbladder Squamous Cell Carcinoma 31
1008 P RRL003 Rare Lymphatic Malformation 31
1009 GST036 Gastric Leiomyosarcoma 31
1010 P NRN038 Neuronal Intestinal Dysplasia, Type B 31
1011 GST014 Gastrointestinal Lymphoma 31
1012 c CLR075 Colorectal Cancer 3 31
1013 c LYM149 Lymphatic Malformation 6 31
1014 SBM004 Submandibular Gland Cancer 31
1015 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
1016 LYM035 Lymphangiectasis 30
1017 ESP010 Esophageal Basaloid Squamous Cell Carcinoma 30
1018 c CLR079 Colorectal Cancer 2 30
1019 SRC004 Sarcomatous Intrahepatic Cholangiocarcinoma 30
1020 PNC014 Pancreatic Serous Cystadenocarcinoma 30
1021 CLN018 Colon Sarcoma 29
1022 ESP005 Esophagus Carcinoma in Situ 29
1023 RCT008 Rectosigmoid Junction Neoplasm 29
1024 GST042 Gastric Diffuse Adenocarcinoma 29
1025 c PRS050 Prss1-Related Hereditary Pancreatitis 29
1026 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 29
1027 CYC002 Cyclosporiasis 29
1028 ACT060 Acute Vascular Insufficiency of Intestine 29
1029 LNT001 Linitis Plastica 29
1030 INT014 Intrahepatic Gall Duct Cancer 29
1031 LVR005 Liver Leiomyoma 29
1032 ATM015 Autoimmune Disease of Gastrointestinal Tract 29
1033 PNC048 Pancreatic Lipase Deficiency 28
1034 ESP029 Esophageal Atresia/tracheoesophageal Fistula 28
1035 SML006 Small Intestine Leiomyoma 28
1036 EXT028 Extrahepatic Bile Duct Adenoma 28
1037 ATR073 Atrophic Glossitis 28
1038 SCL007 Sclerosing Hepatic Carcinoma 28
1039 c INF077 Inflammatory Bowel Disease 19 28
1040 PRT034 Peritoneal Serous Adenocarcinoma 28
1041 GST011 Gastric Liposarcoma 28
1042 MCR014 Microcystic Adenoma 28
1043 ANS025 Anus Benign Neoplasm 28
1044 GST005 Gastric Hemangioma 28
1045 ACN026 Acinar Cell Carcinoma of Pancreas 28
1046 c GLL027 Gallbladder Disease 4 27
1047 VLL005 Vallecula Cancer 27
1048 c SPR084 Spermatogenic Failure 2 27
1049 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 26
1050 BLD002 Bile Duct Mucinous Adenocarcinoma 26
1051 SQM004 Squamous Cell Bile Duct Carcinoma 26
1052 RCT013 Rectum Signet Ring Adenocarcinoma 26
1053 GLL012 Gallbladder Melanoma 26
1054 INT358 Intestinal Polyposis Syndrome 26
1055 RCT023 Rectum Squamous Cell Carcinoma 25
1056 c CHR464 Chronic Intestinal Failure 25
1057 PNC028 Pancreatic Steatorrhea 25
1058 LPM002 Lipoma of Colon 25
1059 INT043 Intestinal Disaccharidase Deficiency 25
1060 GST048 Gastrointestinal System Benign Neoplasm 25
1061 ESP009 Esophageal Neuroendocrine Tumor 25
1062 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 24
1063 INT039 Intrahepatic Biliary Papillomatosis 24
1064 MTG001 Metagonimiasis 24
1065 ANS001 Anus Basaloid Carcinoma 24
1066 c CLR080 Colorectal Cancer 5 24
1067 c SPR081 Spermatogenic Failure 11 24
1068 GST046 Gastrointestinal Anthrax 24
1069 CLN004 Colon Carcinoma in Situ 23
1070 c SPR131 Spermatogenic Failure 28 23
1071 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 23
1072 c SPR110 Spermatogenic Failure 17 23
1073 c SPR127 Spermatogenic Failure 24 23
1074 GLL009 Gallbladder Signet Ring Cell Adenocarcinoma 23
1075 CLN005 Colon Lymphoma 23
1076 IMM079 Immunodeficiency, Common Variable, 11 23
1077 GST038 Gastrointestinal Adenoma 22
1078 JJN002 Jejunal Neoplasm 22
1079 LRG015 Large Intestine Adenoma 22
1080 SVR055 Severe Immune-Mediated Enteropathy 22
1081 c LYM147 Lymphatic Malformation 3 22
1082 c LYM148 Lymphatic Malformation 4 22
1083 c PNC095 Pancreatic Cancer 3 22
1084 c SPR128 Spermatogenic Failure 25 22
1085 c SCN059 Secondary Sclerosing Cholangitis 22
1086 INF173 Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy 22
1087 c SPR114 Spermatogenic Failure 20 21
1088 c INF193 Inflammatory Bowel Disease 30 21
1089 c SPR115 Spermatogenic Failure 19 21
1090 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1091 DDN023 Duodenal Benign Neoplasm 21
1092 LVR007 Liver Fibroma 21
1093 c SPR143 Spermatogenic Failure 38 21
1094 c CLC048 Celiac Disease 3 21
1095 c SPR150 Spermatogenic Failure 40 21
1096 c SPR158 Spermatogenic Failure 46 21
1097 c BCT005 Bacterial Gastritis 21
1098 c SPR153 Spermatogenic Failure 43 21
1099 ADN003 Adenosquamous Bile Duct Carcinoma 20
1100 c SPR140 Spermatogenic Failure 35 20
1101 c SPR141 Spermatogenic Failure 36 20
1102 c SPR082 Spermatogenic Failure 10 20
1103 c SPR152 Spermatogenic Failure 42 20
1104 c SPR149 Spermatogenic Failure 39 20
1105 c SPR136 Spermatogenic Failure 33 20
1106 c SPR137 Spermatogenic Failure 34 20
1107 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 20
1108 UPP002 Upper Lip Cancer 20
1109 c SPR134 Spermatogenic Failure 31 20
1110 c CLR083 Colorectal Cancer 8 20
1111 c ATM064 Autoimmune Pancreatitis Type 1 20
1112 ANL010 Anal Neuroendocrine Tumor 19
1113 c SPR124 Spermatogenic Failure 22 19
1114 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 19
1115 LVC002 Levocardia 19
1116 PRT017 Peritoneal Serous Papillary Adenocarcinoma 19
1117 c NSP015 Nasopharyngeal Carcinoma 3 19
1118 c SPR142 Spermatogenic Failure 37 19
1119 c LYM155 Lymphatic Malformation 8 19
1120 JJN001 Jejunal Somatostatinoma 19
1121 CNG298 Congenital Pancreatic Cyst 19
1122 c SPR087 Spermatogenic Failure 12 19
1123 c SPR130 Spermatogenic Failure 27 19
1124 c SPR095 Spermatogenic Failure 14 18
1125 c SPR135 Spermatogenic Failure 32 18
1126 c SPR133 Spermatogenic Failure 30 18
1127 c SPR125 Spermatogenic Failure 23 18
1128 PRM324 Primary Eosinophilic Gastrointestinal Disease 18
1129 c SPR160 Spermatogenic Failure 48 18
1130 c SPR132 Spermatogenic Failure 29 18
1131 HRS003 Hirschsprung Disease Ganglioneuroblastoma 18
1132 c SPR096 Spermatogenic Failure 13 18
1133 c SPR112 Spermatogenic Failure 21 17
1134 c INT019 Intestine Carcinoma in Situ 17
1135 c NSP009 Nasopharyngeal Carcinoma 2 17
1136 c SPR157 Spermatogenic Failure 45 17
1137 c CLR082 Colorectal Cancer 7 17
1138 c SPR156 Spermatogenic Failure 44 17
1139 c SPR116 Spermatogenic Failure 15 17
1140 c SPR129 Spermatogenic Failure 26 17
1141 CMM001 Common Bile Duct Neoplasm 17
1142 c SPR151 Spermatogenic Failure 41 17
1143 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 17
1144 MCN018 Mucinous Adenocarcinoma of the Appendix 16
1145 c ATM063 Autoimmune Pancreatitis Type 2 16
1146 c SPR161 Spermatogenic Failure 49 16
1147 c SPR159 Spermatogenic Failure 47 16
1148 c CLR081 Colorectal Cancer 6 16
1149 c SPR163 Spermatogenic Failure 51 16
1150 c HYP809 Hypercalciuria, Absorptive, 1 16
1151 c CLR084 Colorectal Cancer 9 15
1152 c LYM146 Lymphatic Malformation 2 15
1153 GST087 Gastric Linitis Plastica 15
1154 c CLR078 Colorectal Cancer 11 15
1155 c SPR164 Spermatogenic Failure 52 15
1156 c SCN046 Secondary Short Bowel Syndrome 14
1157 CLN007 Colon Kaposi Sarcoma 14
1158 CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 14
1159 SQM014 Squamous Cell Carcinoma of Pancreas 13
1160 c HRS024 Hirschsprung Disease 9 13
1161 c HRS028 Hirschsprung Disease 6 13
1162 c HRS026 Hirschsprung Disease 7 13
1163 RCT022 Rectum Sarcoma 13
1164 c GLL025 Gallbladder Disease 2 12
1165 c SPR167 Spermatogenic Failure 53 12
1166 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 12
1167 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
1168 BLD038 Bile Duct Sarcoma 11
1169 c MLG024 Malignant Gastric Teratoma 11
1170 c LYM158 Lymphatic Malformation 9 11
1171 BLR003 Biliary Tract Intraductal Papillary Mucinous Neoplasm 10
1172 c BLD001 Bile Duct Carcinoma in Situ 10
1173 CNG363 Congenital Enterocyte Heparan Sulfate Deficiency 10
1174 ANL007 Anal Margin Squamous Cell Carcinoma 10
1175 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 10
1176 APP004 Appendix Mucinous Cystadenocarcinoma 9
1177 AMP002 Ampulla of Vater Small Cell Carcinoma 9
1178 TNS003 Tonsillar Fossa Cancer 8
1179 PRT022 Protozoal Dysentery 8
1180 OMP003 Omphalomesenteric Cyst 8
1181 AMP005 Ampullary Signet Ring Cell Adenocarcinoma 8
1182 RCT007 Rectal Cloacogenic Carcinoma 8
1183 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
1184 ANL003 Anal Buschke-Lowenstein Tumor 8
1185 LWR002 Lower Gum Cancer 8
1186 RCT006 Rectum Mucinous Adenocarcinoma 8
1187 SYN164 Syndromic Congenital Sodium Diarrhea 8
1188 DRR012 Diarrhea, Chronic, with Villous Atrophy 8
1189 AMP006 Ampulla of Vater Squamous Cell Carcinoma 8
1190 MCR005 Macrotrabecular Hepatoblastoma 8
1191 PRP089 Prp Systemic Amyloidosis 8
1192 PDT044 Pediatric Collagenous Gastritis 7
1193 EXT005 Extrahepatic Bile Duct Lipoma 7
1194 c LPC001 Lip Carcinoma in Situ 7
1195 MDL026 Medullary Colon Carcinoma 7
1196 ESP015 Esophagus Lymphoma 7
1197 AMP001 Ampulla of Vater Mucinous Adenocarcinoma 7
1198 MLG031 Malignant Granular Cell Esophageal Tumor 7
1199 AMP008 Ampulla of Vater Clear Cell Adenocarcinoma 7
1200 UPP003 Upper Gum Cancer 7
1201 ANL002 Anal Gland Neoplasm 7
1202 ANS014 Anus Sarcoma 7
1203 ANS007 Anus Lymphoma 6
1204 PRN015 Perinatal Intestinal Perforation 6
1205 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
1206 c GRW044 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2 6
1207 c PRM318 Primary Short Bowel Syndrome 6
1208 APP007 Appendiceal L-Cell Glucagon-Like Peptide Producing Tumor 6
1209 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 5
1210 RRT012 Rare Tumor of Salivary Glands 5
1211 NNH007 Non-Hypoproteinemic Hypertrophic Gastropathy 5
1212 c GRW043 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1 5
1213 RRP011 Rare Epithelial Tumor of Pancreas 5
1214 c NRN049 Neuronal Intestinal Dysplasia Type a 5
1215 GLL010 Gallbladder Mucinous Carcinoma 4
1216 RCT001 Rectum Sarcomatoid Carcinoma 4
1217 BRN115 Bronchus Mucoepidermoid Carcinoma 4
1218 CLN001 Colon Signet Ring Adenocarcinoma 4
1219 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
1220 CNG572 Congenital Disorder of Glycosylation with Intestinal Involvement 4
1221 CNG605 Congenital Intestinal Transport Defect 4
1222 c INT359 Intestinal Disease Due to Fat Malabsorption 4
1223 CLN013 Colonic L-Cell Glucagon-Like Peptide Producing Tumor 4
1224 SML013 Small Intestinal L-Cell Glucagon-Like Peptide Producing Tumor 4
1225 ISL157 Isolated Mesenteric Vein Thrombosis 4
1226 RRP013 Rare Epithelial Tumor of Rectum 3
1227 c CNG604 Congenital Intestinal Disease Due to an Enzymatic Defect 3
1228 c INT360 Intestinal Disease Due to Vitamin Absorption Anomaly 3
1229 c PRM296 Primary Autoimmune Enteropathy 3
1230 SYN135 Syndromic Autoimmune Enteropathy 3
1231 CNG603 Congenital Enteropathy Involving Intestinal Mucosa Development 3
1232 MDS017 Mediastinum Leiomyosarcoma 9
1233 DSM004 Desmoid Tumor 65
1234 FNC009 Fanconi-Bickel Syndrome 53
1235 MNT006 Manitoba Oculotrichoanal Syndrome 35
1236 c MLT160 Multiple Endocrine Neoplasia, Type Iia 67
1237 GST040 Gastric Adenocarcinoma 66
1238 CLN015 Colon Adenocarcinoma 64
1239 P PRD008 Periodontitis 63
1240 PLY023 Polycystic Liver Disease 62
1241 FTT001 Fatty Liver Disease 61
1242 PRN019 Perinatal Necrotizing Enterocolitis 60
1243 P TRC086 Trichohepatoenteric Syndrome 1 59
1244 GST092 Gastroesophageal Reflux 59
1245 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59
1246 P PRM030 Permanent Neonatal Diabetes Mellitus 59
1247 P MLT074 Multiple Endocrine Neoplasia 58
1248 P ATT003 Attenuated Familial Adenomatous Polyposis 57
1249 ANS023 Anus, Imperforate 56
1250 ANG005 Anogenital Venereal Wart 55
1251 VLV047 Volvulus of Midgut 55
1252 FRC011 Fructose Intolerance, Hereditary 55
1253 ACT055 Actinomycosis 54
1254 ACH005 Achalasia 54
1255 CD4003 Cd40 Ligand Deficiency 53
1256 P MYS079 Miyoshi Muscular Dystrophy 53
1257 c MYS033 Miyoshi Muscular Dystrophy 1 53
1258 P SLV027 Silver-Russell Syndrome 1 52
1259 c BRD012 Bardet-Biedl Syndrome 11 52
1260 DDN010 Duodenum Cancer 51
1261 c MLT086 Multiple Endocrine Neoplasia, Type Iv 51
1262 CLR109 Colorectal Adenocarcinoma 50
1263 P DFF019 Diffuse Gastric Cancer 50
1264 PRT018 Portal Vein Thrombosis 50
1265 PNC034 Pancreas Disease 49
1266 GST049 Gastrointestinal System Cancer 49
1267 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
1268 LYM004 Lymphoid Interstitial Pneumonia 49
1269 VPM001 Vipoma 48
1270 c WRD032 Waardenburg Syndrome, Type 2a 48
1271 IMM184 Immunodeficiency 17 47
1272 DDN011 Duodenal Atresia 47
1273 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 47
1274 SLD003 Sialadenitis 47
1275 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 47
1276 P BLR006 Biliary Tract Disease 46
1277 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 46
1278 HPT011 Hepatocellular Clear Cell Carcinoma 46
1279 c BRD047 Bardet-Biedl Syndrome 16 46
1280 P LPC002 Lip Cancer 46
1281 P PLL002 Pellagra 46
1282 INT253 Intestinal Benign Neoplasm 46
1283 TNS004 Tonsil Cancer 44
1284 MCR037 Macroglossia 44
1285 P PHR004 Pharynx Cancer 44
1286 GST095 Gastritis, Familial Giant Hypertrophic 43
1287 AND001 Anodontia 43
1288 ORL015 Oral Squamous Cell Carcinoma 43
1289 CLN003 Clonorchiasis 42
1290 PNC118 Pancreas, Annular 42
1291 P HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 42
1292 ASC004 Ascending Colon Cancer 42
1293 GST105 Gastroesophageal Adenocarcinoma 42
1294 c BRD045 Bardet-Biedl Syndrome 19 42
1295 MCR011 Microinvasive Gastric Cancer 41
1296 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 41
1297 c MYS014 Miyoshi Muscular Dystrophy 3 40
1298 c CNG196 Congenital Disorder of Glycosylation, Type Ic 40
1299 BLR027 Blue Rubber Bleb Nevus 39
1300 SLV003 Salivary Gland Disease 39
1301 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 39
1302 HPT082 Hepatic Adenomas, Familial 39
1303 c BRD017 Bardet-Biedl Syndrome 5 38
1304 P FML355 Familial Intrahepatic Cholestasis 38
1305 TRN003 Transverse Colon Cancer 38
1306 CRD005 Cardia Cancer 37
1307 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 37
1308 c ATM083 Autoimmune Lymphoproliferative Syndrome, Type Iii 37
1309 P HPT020 Hepatic Vascular Disease 37
1310 SPR007 Superior Mesenteric Artery Syndrome 36
1311 c HRS036 Hirschsprung Disease 2 36
1312 P GST047 Gastrointestinal Neuroendocrine Tumor 36
1313 c INF093 Inflammatory Bowel Disease 14 36
1314 CNG064 Congenital Chloride Diarrhea 34
1315 BLD032 Bile Duct Adenocarcinoma 34
1316 BLD019 Bile Duct Cystadenocarcinoma 34
1317 SFT002 Soft Palate Cancer 34
1318 PNC039 Pancreatic Cystadenoma 34
1319 TCL022 T-Cell Receptor-Alpha/beta Deficiency 33
1320 ENT006 Enterokinase Deficiency 33
1321 HPT005 Hepatic Flexure Cancer 33
1322 DSC005 Descending Colon Cancer 33
1323 PLM009 Pleomorphic Adenoma Carcinoma 33
1324 MLK004 Malakoplakia 33
1325 c SLV028 Silver-Russell Syndrome 3 33
1326 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 32
1327 PRT009 Parotid Gland Cancer 32
1328 GST026 Gastric Fundus Cancer 32
1329 CLN009 Colon Squamous Cell Carcinoma 32
1330 GBL002 Goblet Cell Carcinoid 32
1331 EXT027 Extrahepatic Bile Duct Adenocarcinoma 32
1332 DLF001 Dieulafoy Lesion 31
1333 MLG038 Malignant Anus Melanoma 31
1334 PRN017 Perianal Hematoma 30
1335 c INF194 Infantile Liver Failure Syndrome 30
1336 c JVN034 Juvenile Polyposis of Infancy 30
1337 DDN002 Duodenal Gastrinoma 30
1338 TNS013 Tonsil Squamous Cell Carcinoma 30
1339 P LYM124 Lymphangiectasia, Intestinal 30
1340 GST029 Gastric Cardia Adenocarcinoma 30
1341 LVR004 Liver Inflammatory Pseudotumor 30
1342 LVR031 Liver Benign Neoplasm 30
1343 FSS001 Fissured Tongue 29
1344 c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 29
1345 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
1346 CLN002 Colon Mucinous Adenocarcinoma 28
1347 c WRD029 Waardenburg Syndrome, Type 2b 28
1348 PPM002 Ppoma 28
1349 c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 28
1350 SPL003 Splenic Flexure Cancer 28
1351 SML039 Small Intestine Benign Neoplasm 28
1352 c INF160 Inflammatory Bowel Disease 17 28
1353 c PNC094 Pancreatic Cancer 1 28
1354 EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 27
1355 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
1356 MCN009 Mucinous Stomach Adenocarcinoma 27
1357 GST032 Gastric Papillary Adenocarcinoma 27
1358 c WRD026 Waardenburg Syndrome, Type 2c 26
1359 LVR006 Liver Lymphoma 26
1360 c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 26
1361 c SLV029 Silver-Russell Syndrome 2 26
1362 CLN010 Colonic Lymphangioma 26
1363 LVR014 Liver Sarcoma 26
1364 GST016 Gastric Signet Ring Cell Adenocarcinoma 26
1365 c PNC111 Pancreatic Cancer 2 26
1366 ANL012 Anal Gland Adenocarcinoma 25
1367 GST015 Gastric Small Cell Carcinoma 25
1368 c INF067 Inflammatory Bowel Disease 10 25
1369 GST017 Gastric Tubular Adenocarcinoma 25
1370 GST031 Gastric Gastrinoma 25
1371 DST001 Distal Biliary Tract Carcinoma 24
1372 HYP049 Hypertrophy of Tongue Papillae 24
1373 MYM015 Moyamoya Disease 6 with or Without Achalasia 24
1374 c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 24
1375 c SLV031 Silver-Russell Syndrome 5 24
1376 c HRS034 Hirschsprung Disease 3 24
1377 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 24
1378 c PNC103 Pancreatic Cancer 4 24
1379 MCN022 Mucinous Cystadenocarcinoma of the Pancreas 24
1380 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 24
1381 PRT100 Parotid Gland Adenoid Cystic Carcinoma 23
1382 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 23
1383 APP002 Appendix Lymphoma 23
1384 PRM288 Permanent Molars, Secondary Retention of 23
1385 GLL007 Gallbladder Small Cell Carcinoma 23
1386 ANL016 Anal Margin Carcinoma 22
1387 DDN028 Duodenal Neuroendocrine Tumor 22
1388 PYL007 Pylorus Cancer 21
1389 SSS001 Sessile Serrated Polyposis Cancer Syndrome 21
1390 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 21
1391 GST041 Gastric Cardia Carcinoma 21
1392 LRY003 Laryngeal Mucoepidermoid Carcinoma 21
1393 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 20
1394 c MYS019 Miyoshi Muscular Dystrophy 2 20
1395 c SLV030 Silver-Russell Syndrome 4 20
1396 PNC024 Pancreatic Colloid Cystadenoma 20
1397 GST008 Gastric Adenosquamous Carcinoma 19
1398 NRN047 Neuroendocrine Neoplasm of Pancreas 19
1399 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 19
1400 LVR003 Liver Carcinoma in Situ 18
1401 HRD005 Hard Palate Cancer 18
1402 c CLC037 Celiac Disease 4 18
1403 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 18
1404 NRN044 Neuroendocrine Carcinoma of Pancreas 18
1405 GRF006 Grfoma 17
1406 c PLL014 Pellagra-Like Syndrome 17
1407 UND009 Undifferentiated Carcinoma of Stomach 17
1408 CLN008 Colon Small Cell Carcinoma 17
1409 c CLC039 Celiac Disease 13 16
1410 GST056 Gastrocutaneous Syndrome 16
1411 HRS037 Hirschsprung Disease with Type D Brachydactyly 16
1412 c SCN043 Secondary Intestinal Lymphangiectasia 16
1413 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 16
1414 PHR008 Pharynx Squamous Cell Carcinoma 15
1415 THY010 Thymus Mucoepidermoid Carcinoma 14
1416 RRT002 Rare Tumor of Pancreas 14
1417 JJN009 Jejunal Neuroendocrine Tumor 14
1418 ISL156 Isolated Splenic Vein Thrombosis 12
1419 INT381 Intraductal Tubulopapillary Neoplasm of Pancreas 12
1420 SQM019 Squamous Cell Carcinoma of the Small Intestine 12
1421 c HRS025 Hirschsprung Disease 8 12
1422 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 12
1423 EXT015 Extrahepatic Biliary Papillomatosis 11
1424 SLV032 Salivary Gland Mucinous Adenocarcinoma 11
1425 RCT003 Rectum Malignant Melanoma 10
1426 BLD006 Bile Duct Clear Cell Adenocarcinoma 10
1427 ESP004 Esophagus Small Cell Carcinoma 10
1428 BLD007 Bile Duct Signet Ring Cell Carcinoma 9
1429 CHK002 Cheek Mucosa Cancer 9
1430 SBL001 Sublingual Gland Cancer 9
1431 GST025 Gastric Body Carcinoma 9
1432 DF1001 Deaf1-Associated Disorders 9
1433 c GLL050 Gallbladder Carcinoma in Situ 9
1434 INT037 Intrahepatic Bile Duct Cystadenoma 8
1435 MLG066 Malignant Gastric Germ Cell Tumor 8
1436 FLL045 Follicular Cholangitis and Pancreatitis 8
1437 c ORL001 Oral Cavity Carcinoma in Situ 8
1438 EXT014 Extrahepatic Bile Duct Cystadenoma 8
1439 UVL001 Uvula Cancer 7
1440 RRC013 Rare Carcinoma of Pancreas 7
1441 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 7
1442 CRC037 Carcinoma of Esophagus, Salivary Gland Type 7
1443 c RRN023 Rare Intestinal Disease 7
1444 WLD001 Waldeyer's Ring Cancer 7
1445 MXD045 Mixed Neuroendocrine-Nonneuroendocrine Neoplasm of Pancreas 7
1446 PYL003 Pyloric Antrum Cancer 6
1447 c PHR001 Pharynx Carcinoma in Situ 6
1448 MLG044 Malignant Gastric Granular Cell Tumor 6
1449 SML007 Small Intestinal Vasoactive Intestinal Peptide Producing Tumor 6
1450 RRP030 Rare Pancreatic Disease 6
1451 MLG134 Malignant Epithelial Tumor of Salivary Glands 6
1452 INT252 Intestinal Neuroendocrine Benign Tumor 6
1453 RTR002 Retromolar Area Cancer 5
1454 SBM001 Submucosal Invasive Colon Adenocarcinoma 5
1455 GST022 Gastric Pylorus Carcinoma 5
1456 c RRB009 Rare Biliary Tract Disease 5
1457 c SMN004 Seminal Vesicle Chronic Gonorrhea 5
1458 RRP018 Rare Epithelial Tumor of Stomach 5
1459 P RRT023 Rare Tumor of Intestine 5
1460 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
1461 TRC090 Trachea Mucoepidermoid Carcinoma 4
1462 c SLV006 Salivary Gland Cancer, Adult 4
1463 c RRT017 Rare Tumor of Small Intestine 4
1464 RRP014 Rare Epithelial Tumor of Small Intestine 4
1465 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 4
1466 RRP012 Rare Epithelial Tumor of Colon 4
1467 RRG003 Rare Gastroesophageal Tumor 3
1468 INH029 Inherited Digestive Cancer-Predisposing Syndrome 3
1469 MTB018 Metabolic Disease with Intestinal Involvement 3
1470 RRD065 Rare Disease Involving Intestinal Motility 3
1471 RRG075 Rare Gastroesophageal Disease 3
1472 PRT002 Paratyphoid Fever 54
1473 P PRT096 Peritoneal Mesothelioma 49
1474 c MLG002 Malignant Peritoneal Mesothelioma 42
1475 ABD004 Abdominal Tuberculosis 39
1476 TBR008 Tuberculous Peritonitis 35
1477 c BNG001 Benign Peritoneal Mesothelioma 33
1478 STP002 Staphyloenterotoxemia 27
1479 P HPT023 Hepatocellular Carcinoma 95
1480 CYS001 Cystic Fibrosis 77
1481 WLS001 Wilson Disease 70
1482 c INF071 Inflammatory Bowel Disease 1 65
1483 c PRG047 Progressive Familial Intrahepatic Cholestasis 64
1484 SHG001 Shigellosis 61
1485 P INT099 Intrahepatic Cholestasis of Pregnancy 61
1486 LST001 Listeriosis 59
1487 P LYM033 Lymphoproliferative Syndrome 59
1488 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 58
1489 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57
1490 P GLL020 Gallbladder Disease 57
1491 ISL001 Islet Cell Tumor 55
1492 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55
1493 EPT010 Epithelial-Myoepithelial Carcinoma 55
1494 TNG007 Tongue Carcinoma 55
1495 HPT022 Hepatoblastoma 54
1496 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53
1497 c GLL024 Gallbladder Disease 1 53
1498 GST037 Gastroparesis 52
1499 STR008 Strongyloidiasis 52
1500 P ORL007 Oral Cavity Cancer 51
1501 HRD224 Hereditary Nonpolyposis Colon Cancer 51
1502 INT079 Intrahepatic Cholangiocarcinoma 51
1503 FLT009 Folate Malabsorption, Hereditary 50
1504 HPT014 Hepatorenal Syndrome 49
1505 P TYR004 Tyrosinemia 49
1506 GLD006 Goldberg-Shprintzen Syndrome 48
1507 SCR037 Sucrase-Isomaltase Deficiency, Congenital 48
1508 CLN045 Colonic Benign Neoplasm 48
1509 c WRD031 Waardenburg Syndrome, Type 3 46
1510 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 46
1511 GST012 Gastroesophageal Junction Adenocarcinoma 46
1512 c LYM106 Lymphoproliferative Syndrome 1 45
1513 ECT093 Ectopic Cushing Syndrome 45
1514 TYL002 Tylosis with Esophageal Cancer 45
1515 c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 44
1516 TRC012 Trichuriasis 44
1517 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
1518 c BRD019 Bardet-Biedl Syndrome 7 44
1519 FSC002 Fascioliasis 43
1520 TNG009 Tongue Squamous Cell Carcinoma 43
1521 LVR002 Liver Angiosarcoma 42
1522 HPT067 Hepatocellular Adenoma 42
1523 END059 Endocrine-Cerebroosteodysplasia 41
1524 LYM042 Lymphocytic Colitis 41
1525 PNC019 Pancreatoblastoma 40
1526 KRK001 Krukenberg Carcinoma 39
1527 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 39
1528 GGR001 Geographic Tongue 38
1529 ANL011 Anal Canal Carcinoma 38
1530 GST028 Gastric Squamous Cell Carcinoma 37
1531 ENT008 Enteropathy-Associated T-Cell Lymphoma 36
1532 JJN004 Jejunal Atresia 36
1533 VRL017 Viral Hemorrhagic Fever 35
1534 c CLR087 Colorectal Cancer 12 34
1535 MMM007 Mammary Analogue Secretory Carcinoma 33
1536 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 33
1537 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 32
1538 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
1539 P GRW041 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 1, Autosomal Recessive 31
1540 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
1541 c INF002 Inflammatory Diarrhea 30
1542 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30
1543 c LYM151 Lymphoproliferative Syndrome 3 30
1544 c PRM158 Primary Intestinal Lymphangiectasia 30
1545 BLD005 Bile Duct Mucoepidermoid Carcinoma 28
1546 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 28
1547 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 27
1548 CLN014 Colon Neuroendocrine Neoplasm 27
1549 SML004 Small Intestine Neuroendocrine Neoplasm 27
1550 SGM002 Sigmoid Neoplasm 26
1551 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26
1552 IMM075 Immunodeficiency 22 26
1553 P STM003 Stomach Carcinoma in Situ 25
1554 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
1555 IMM219 Immunodeficiency 57 with Autoinflammation 24
1556 c HRD215 Hereditary Gastric Cancer 23
1557 c INF068 Inflammatory Bowel Disease 13 22
1558 EPL163 Epilepsy with Bilateral Occipital Calcifications 21
1559 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 21
1560 ILL008 Ileal Neuroendocrine Tumor 20
1561 NRN045 Neuroendocrine Neoplasm of Appendix 19
1562 OST141 Osteoclastic Giant Cell Tumor of Pancreas 18
1563 INT302 Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 17
1564 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 16
1565 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 16
1566 c VSC056 Visceral Neuropathy, Familial, Autosomal Dominant 15
1567 c CLC038 Celiac Disease 10 15
1568 CCM002 Cecum Lymphoma 15
1569 c VRL009 Viral Gastritis 14
1570 ORL029 Oral Rhabdomyosarcoma 9
1571 P HRN027 Hernia, Anterior Diaphragmatic 9
1572 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 8
1573 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 8
1574 NRN043 Neuroendocrine Neoplasm of Esophagus 7
1575 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 5
1576 P GST053 Gastric Cancer 82
1577 P HPT021 Hepatitis 68
1578 P LVR013 Liver Disease 68
1579 BRR014 Barrett Esophagus 66
1580 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 66
1581 P BRD002 Bardet-Biedl Syndrome 66
1582 P SHW006 Shwachman-Diamond Syndrome 1 65
1583 P BRL012 Bare Lymphocyte Syndrome, Type Ii 65
1584 P JVN014 Juvenile Polyposis Syndrome 65
1585 GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65
1586 c DPH024 Diaphragmatic Hernia, Congenital 63
1587 PRM236 Primary Biliary Cholangitis 62
1588 P SLV026 Salivary Gland Carcinoma 59
1589 P GLL018 Gallbladder Cancer 59
1590 MRT001 Muir-Torre Syndrome 59
1591 CYS008 Cystic Echinococcosis 57
1592 c SML009 Small Intestine Adenocarcinoma 57
1593 ORL004 Oral Submucous Fibrosis 56
1594 ORL005 Oral Candidiasis 55
1595 ANS011 Anus Cancer 55
1596 ZLL002 Zollinger-Ellison Syndrome 55
1597 ORP003 Oropharynx Cancer 54
1598 OST022 Osteopathia Striata with Cranial Sclerosis 54
1599 P SHR001 Short Bowel Syndrome 53
1600 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52
1601 SMT003 Somatostatinoma 52
1602 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
1603 c BRD015 Bardet-Biedl Syndrome 3 49
1604 c BRL011 Bare Lymphocyte Syndrome, Type I 48
1605 APP009 Appendix Adenocarcinoma 47
1606 c CNG193 Congenital Disorder of Glycosylation, Type Ip 46
1607 TXC011 Toxocariasis 46
1608 GLC022 Glucose/galactose Malabsorption 45
1609 RCT005 Rectum Neuroendocrine Neoplasm 35
1610 c LVR030 Liver Failure, Infantile, Transient 34
1611 c WRD022 Waardenburg Syndrome, Type 2d 34
1612 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 32
1613 SML014 Small Intestine Leiomyosarcoma 32
1614 c INF138 Infantile Liver Failure Syndrome 2 29
1615 c FML299 Familial Adenomatous Polyposis 3 28
1616 c PNC132 Pancreatic Cancer 5 22
1617 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 20
1618 BLD065 Blue Diaper Syndrome 20
1619 c INF170 Inflammatory Bowel Disease 29 19
1620 c VSC054 Visceral Neuropathy, Familial, Autosomal Recessive 17
1621 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 17
1622 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 17
1623 NRN033 Neuroendocrine Tumor of the Colon 16
1624 FNC065 Functioning Neuroendocrine Tumor of Pancreas 15
1625 HPT017 Hepatic Osteogenic Sarcoma 8
1626 P DSR041 Disorder of Multiple Glycosylation 7
1627 P VSC017 Visceral Neuropathy Familial 7
1628 c RRV010 Rare Vascular Liver Disease 6
1629 c RRC019 Rare Carcinoma of Small Intestine 6
1630 c RRC018 Rare Carcinoma of Stomach 6
1631 PHH001 Phaeohyphomycosis 38
1632 ANS003 Anisakiasis 38
1633 P PNC035 Pancreatic Cancer 87
1634 c CWD006 Cowden Syndrome 1 78
1635 P ALG028 Alagille Syndrome 1 73
1636 c MLT156 Multiple Endocrine Neoplasia, Type I 71
1637 c HPT073 Hepatitis C Virus 70
1638 P FML011 Familial Adenomatous Polyposis 70
1639 CNT097 Central Hypoventilation Syndrome, Congenital 70
1640 c GST103 Gastric Cancer, Hereditary Diffuse 68
1641 THY111 Thyroid Carcinoma, Familial Medullary 67
1642 c FML346 Familial Adenomatous Polyposis 1 65
1643 c ATM011 Autoimmune Hepatitis 62
1644 DGR001 Digeorge Syndrome 62
1645 c HRD002 Hereditary Angioedema 61
1646 c ADL096 Adult Hepatocellular Carcinoma 60
1647 c ANG068 Angioedema, Hereditary, Type I 58
1648 c ACT134 Acute Liver Failure 57
1649 c FML347 Familial Adenomatous Polyposis 2 56
1650 P ANG015 Angioedema 56
1651 IMM179 Immunodeficiency 31c 55
1652 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 55
1653 DRR016 Diarrhea 2, with Microvillus Atrophy 55
1654 c WRD030 Waardenburg Syndrome, Type 1 54
1655 GST093 Gastrointestinal Defects and Immunodeficiency Syndrome 51
1656 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
1657 c LYM107 Lymphoproliferative Syndrome 2 50
1658 c WRD020 Waardenburg Syndrome, Type 4a 49
1659 c WRD019 Waardenburg Syndrome, Type 4b 46
1660 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 44
1661 GST027 Gastric Lymphoma 43
1662 c WRD024 Waardenburg Syndrome, Type 4c 42
1663 c BRD048 Bardet-Biedl Syndrome 18 41
1664 c TYR011 Tyrosinemia, Type Iii 41
1665 c ACQ012 Acquired Angioedema 37
1666 GST004 Gastric Neuroendocrine Neoplasm 36
1667 c BRD035 Bardet-Biedl Syndrome 15 36
1668 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1669 c TRC078 Trichohepatoenteric Syndrome 2 35
1670 c ALG016 Alagille Syndrome 2 34
1671 c ANG045 Angioedema, Hereditary, Type Iii 31
1672 c CWD009 Cowden Syndrome 7 27
1673 c INF190 Infantile Liver Failure Syndrome 3 21
1674 c ACQ036 Acquired Angioedema Type 2 10
1675 c ACQ035 Acquired Angioedema Type 1 7
1676 c HPT016 Hepatitis B 62
1677 c HPT001 Hepatitis C 61
1678 c HPT007 Hepatitis E 50
1679 c HPT015 Hepatitis D 49
1680 PTZ001 Peutz-Jeghers Syndrome 69
1681 c PNC108 Pancreatitis, Hereditary 68
1682 c TYR012 Tyrosinemia, Type I 61
1683 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 53
1684 c VRL010 Viral Hepatitis 52
1685 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 50
1686 c BRD011 Bardet-Biedl Syndrome 10 49
1687 c TYR013 Tyrosinemia, Type Ii 48
1688 c FML339 Familial Adenomatous Polyposis 4 31
1689 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
1690 c GRW042 Growth Hormone Insensitivity Syndrome with Immune Dysregulation 2, Autosomal Dominant 20
1691 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
1692 BDD001 Budd-Chiari Syndrome 62
1693 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56
1694 c BRD020 Bardet-Biedl Syndrome 8 49
1695 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45
1696 c BRD013 Bardet-Biedl Syndrome 12 44
1697 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
1698 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1699 c CNG498 Congenital Disorder of Glycosylation, Type Iin 41
1700 c CNG379 Congenital Disorder of Glycosylation, Type It 41
1701 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1702 c BRD050 Bardet-Biedl Syndrome 21 28
1703 c CWD004 Cowden Syndrome 5 26
1704 c SHW007 Shwachman-Diamond Syndrome 2 26
1705 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 25
1706 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18
1707 c CNG411 Congenital Disorder of Glycosylation, Type in 66
1708 c CNG415 Congenital Disorder of Glycosylation, Type Ia 58
1709 c CNG194 Congenital Disorder of Glycosylation, Type Ig 49
1710 P PRP056 Porphyria, Acute Hepatic 49
1711 c BRD032 Bardet-Biedl Syndrome 14 47
1712 c CNG208 Congenital Disorder of Glycosylation, Type Iic 47
1713 c CNG199 Congenital Disorder of Glycosylation, Type Im 44
1714 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
1715 c CNG185 Congenital Disorder of Glycosylation, Type Iig 44
1716 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
1717 c CNG383 Congenital Disorder of Glycosylation, Type Iik 43
1718 c CNG198 Congenital Disorder of Glycosylation, Type Il 41
1719 c CNG189 Congenital Disorder of Glycosylation, Type Ib 40
1720 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
1721 c CNG188 Congenital Disorder of Glycosylation, Type if 37
1722 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
1723 c CNG192 Congenital Disorder of Glycosylation, Type Ik 37
1724 c CNG205 Congenital Disorder of Glycosylation, Type Ij 36
1725 STY001 Satoyoshi Syndrome 30
1726 c CNG388 Congenital Disorder of Glycosylation, Type Iw 30
1727 c CWD008 Cowden Syndrome 6 29
1728 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
1729 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
1730 c CNG617 Congenital Disorder of Glycosylation, Type Iit 26
1731 c CWD005 Cowden Syndrome 4 20
1732 c CHR471 Chronic Hepatic Porphyria 15
1733 c BRD010 Bardet-Biedl Syndrome 1 64
1734 c BRD014 Bardet-Biedl Syndrome 2 53
1735 c BRD018 Bardet-Biedl Syndrome 6 50
1736 c BRD016 Bardet-Biedl Syndrome 4 44
1737 c HPT003 Hepatitis a 63



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