Gastrointestinal Diseases Category (1821 diseases)


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

# Family MCID Name MIFTS
1 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
2 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
3 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
4 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 56
5 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
6 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 47
7 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
8 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
9 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
10 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
11 FSC003 Fasciolopsiasis 28
12 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
13 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
14 PRG017 Paraganglioma and Gastric Stromal Sarcoma 63
15 DGS008 Digestive System Melanoma 16
16 P INT006 Intestinal Botulism 31
17 UMB001 Umbilical Cord Ulceration and Intestinal Atresia 18
18 GST030 Gastrinoma 45
19 c ADL069 Adult Intestinal Botulism 20
20 GST051 Gastrointestinal Tuberculosis 38
21 ENT003 Enterobiasis 43
22 GST108 Gist-Plus Syndrome 24
23 P IMR002 Imerslund-Grasbeck Syndrome 1 42
24 c IMR003 Imerslund-Grasbeck Syndrome 2 25
25 INF006 Infant Botulism 45
26 CHR280 Chronic Erosive Gastritis 19
27 THR030 Thoraco Abdominal Enteric Duplication 16
28 PRS034 Parasitic Helminthiasis Infectious Disease 52
29 c VSC067 Visceral Neuropathy, Familial, 1, Autosomal Recessive 29
30 KPR002 Kapur-Toriello Syndrome 27
31 GTT002 Guttate Psoriasis 23
32 c VSC068 Visceral Neuropathy, Familial, 3, Autosomal Dominant 20
33 P ATS499 Autosomal Dominant Familial Visceral Neuropathy 8
34 P CLC063 Celiac Disease 1 67
35 GST020 Gastric Antral Vascular Ectasia 39
36 c CLC048 Celiac Disease 3 21
37 c CLC037 Celiac Disease 4 18
38 c CLC039 Celiac Disease 13 16
39 P LCT002 Lactose Intolerance 54
40 FLC001 Folic Acid Deficiency Anemia 33
41 MNG003 Mungan Syndrome 27
42 OGL001 Ogilvie Syndrome 26
43 CNG260 Congenital Enterovirus Infection 22
44 GST113 Gastrointestinal Defects and Immunodeficiency Syndrome 2 20
45 CRN283 Cornea Guttata with Anterior Polar Cataracts 15
46 GST003 Gastrin Secretion Abnormality 8
47 TYP007 Typhoid Fever 64
48 CCC002 Coccidiosis 50
49 PRX093 Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias 37
50 P ATM020 Autoimmune Enteropathy 30
51 CLN022 Colonic Atresia 27
52 MLL004 Mallory-Weiss Syndrome 24
53 c CLC046 Celiac Disease 5 20
54 c CLC040 Celiac Disease 6 18
55 c CLC045 Celiac Disease 2 16
56 c CLC038 Celiac Disease 10 15
57 c CLC043 Celiac Disease 11 14
58 c CLC047 Celiac Disease 8 14
59 c CLC044 Celiac Disease 12 14
60 c CLC042 Celiac Disease 9 14
61 c CLC041 Celiac Disease 7 13
62 c GLL024 Gallbladder Disease 1 56
63 ENT011 Enterocolitis 55
64 AMB001 Amebiasis 51
65 GRD001 Giardiasis 46
66 CLN012 Colon Leiomyosarcoma 24
67 ATM077 Autoimmune Gastrointestinal Dysmotility 20
68 CLF042 Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 19
69 P MGC008 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 52
70 CYS011 Cystoisosporiasis 44
71 CRN055 Carney Triad 44
72 DPH003 Diphyllobothriasis 36
73 BLN004 Balantidiasis 30
74 c MGC012 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 25
75 c MGC009 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 24
76 DNT004 Dientamoebiasis 22
77 APH015 Aphalangy with Hemivertebrae 19
78 ENT016 Enterovesical Fistula 18
79 GST057 Gastro-Enteropancreatic Neuroendocrine Tumor 17
80 PLX003 Plexosarcoma 15
81 CLL026 Collagenous Gastritis 13
82 GNT138 Genetic Intestinal Polyposis 13
83 CNG508 Congenital Corneal Opacities, Cornea Guttata, and Corectopia 12
84 GST101 Gastric Sneezing 10
85 PLY151 Polyposis, Intestinal, Scattered and Discrete 9
86 ENT002 Enteric Pattern Testicular Yolk Sac Tumor 5
87 NNS101 Non-Syndromic Anorectal Malformation with Pouch Colon 4
88 HLC007 Helicobacter Pylori Infection 57
89 P VSC065 Visceral Myopathy 1 50
90 c HRS036 Hirschsprung Disease 2 40
91 c VSC066 Visceral Myopathy 2 26
92 c HRS029 Hirschsprung Disease 4 25
93 c HRS034 Hirschsprung Disease 3 24
94 c MGC011 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 22
95 c MGC010 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 19
96 INT582 Intestinal Dysmotility Syndrome 17
97 CNG535 Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome 11
98 CHL014 Cholera 61
99 RCT015 Reactive Arthritis 55
100 TNS007 Taeniasis 50
101 MCR020 Microsporidiosis 47
102 P OMP004 Omphalocele 45
103 INT088 Intrinsic Factor Deficiency 37
104 DRR023 Diarrhea 2, with Microvillus Atrophy, with or Without Cholestasis 37
105 CNG016 Congenital Intrinsic Factor Deficiency 37
106 YSY001 Yao Syndrome 31
107 c LCT011 Lactose Intolerance, Adult Type 27
108 P DRR020 Diarrhea 10, Protein-Losing Enteropathy Type 24
109 c INF195 Inflammatory Bowel Disease 31, Autosomal Recessive 22
110 EPL163 Epilepsy with Bilateral Occipital Calcifications 20
111 MRT009 Martinez-Frias Syndrome 20
112 c OMP009 Omphalocele, Autosomal 18
113 c DRR019 Diarrhea 7, Protein-Losing Enteropathy Type 17
114 CLN023 Colonic Malakoplakia 12
115 DGS007 Digestive Duplication 11
116 OMP003 Omphalomesenteric Cyst 9
117 HYP848 Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome 9
118 BNG088 Benign Infantile Seizures Associated with Mild Gastroenteritis 7
119 MCP018 Mcpherson Clemens Syndrome 6
120 P CTS001 Cutis Laxa 57
121 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
122 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
123 c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 52
124 ASP007 Aspiration Pneumonia 52
125 P MLT140 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 49
126 c MLT126 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 48
127 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
128 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
129 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
130 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
131 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
132 c MLT127 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 46
133 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
134 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
135 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
136 c MLT179 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 40
137 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
138 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
139 c ATP003 Atp6v0a2-Related Cutis Laxa 35
140 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
141 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
142 c INF064 Inflammatory Bowel Disease 28, Autosomal Recessive 30
143 MCR310 Microgastria-Limb Reduction Defects Association 28
144 HYP572 Hypoganglionosis 28
145 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
146 LVC002 Levocardia 21
147 c ACQ027 Acquired Cutis Laxa 20
148 CHL076 Chilaiditi Syndrome 19
149 c LTB003 Ltbp4-Related Cutis Laxa 19
150 GST111 Gastroenteropancreatic Neuroendocrine Neoplasm 19
151 c FBL003 Fbln5-Related Cutis Laxa 18
152 c HRS027 Hirschsprung Disease 5 17
153 c ATM060 Autoimmune Atrophic Gastritis 15
154 c ELN002 Eln-Related Cutis Laxa 14
155 c EFM001 Efemp2-Related Cutis Laxa 13
156 c HRS028 Hirschsprung Disease 6 13
157 c HRS026 Hirschsprung Disease 7 13
158 c HRS024 Hirschsprung Disease 9 13
159 AGN004 Aganglionosis, Total Intestinal 13
160 INT357 Intestinal Malformation 12
161 c HRS025 Hirschsprung Disease 8 12
162 GST055 Gastric Duplication Cysts 12
163 MST008 Mastocytic Enterocolitis 9
164 CLN048 Colonic Varices Without Portal Hypertension 9
165 HMN039 Hemangiomas of Small Intestine 9
166 DGS009 Digestive Tract Malformation 8
167 PRM033 Paraomphalocele 8
168 GST102 Gastric Volvulus, Intrathoracic 8
169 PLY152 Polyposis, Intestinal, with Multiple Exostoses 8
170 INV020 Invasive Infections Due to Vancomycin-Resistant Enterococci 8
171 DVR008 Diverticulosis, Small-Intestinal 7
172 GST110 Gastroduodenal Malformation 6
173 SYN160 Syndromic Intestinal Malformation 5
174 P GNT054 Genetic Intestinal Disease 5
175 RRG002 Rare Genetic Gastroenterological Disease 5
176 SYN163 Syndromic Gastroduodenal Malformation 3
177 NNS068 Non-Syndromic Intestinal Malformation 3
178 NNS067 Non-Syndromic Gastroduodenal Malformation 3
179 STL002 Stalker Chitayat Syndrome 3
180 GNT074 Genetic Digestive Tract Malformation 2
181 GNT053 Genetic Gastro-Esophageal Disease 2
182 c GNT140 Genetic Intestinal Disease Due to Fat Malabsorption 2
183 GNT113 Genetic Digestive Tract Tumor 2
184 ENT009 Enterovirus Antenatal Infection 1
185 ULC004 Ulcerative Colitis 75
186 SQM013 Squamous Cell Carcinoma, Head and Neck 75
187 CRH001 Crohn's Disease 74
188 c HPT073 Hepatitis C Virus 70
189 P BRL012 Bare Lymphocyte Syndrome, Type Ii 69
190 P BRD002 Bardet-Biedl Syndrome 67
191 c FML346 Familial Adenomatous Polyposis 1 67
192 c BRD010 Bardet-Biedl Syndrome 1 65
193 P HPT021 Hepatitis 65
194 ADN011 Adenoid Cystic Carcinoma 65
195 c MLT159 Multiple Endocrine Neoplasia, Type Iib 64
196 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
197 c HPT001 Hepatitis C 63
198 c HPT016 Hepatitis B 63
199 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 62
200 c HPT003 Hepatitis a 62
201 PRT013 Portal Hypertension 61
202 c HPT015 Hepatitis D 60
203 LVR012 Liver Cirrhosis 60
204 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 60
205 c PRD039 Periodontitis, Aggressive, 1 59
206 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 59
207 c BRD012 Bardet-Biedl Syndrome 11 59
208 c PRG047 Progressive Familial Intrahepatic Cholestasis 58
209 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
210 P ESP024 Esophagitis 58
211 GNG011 Gingival Disease 58
212 P AGG001 Aggressive Periodontitis 57
213 ING001 Inguinal Hernia 57
214 GST112 Gastrointestinal Defects and Immunodeficiency Syndrome 1 56
215 P INT099 Intrahepatic Cholestasis of Pregnancy 56
216 c BRD011 Bardet-Biedl Syndrome 10 55
217 SRM004 Serum Amyloid a Amyloidosis 54
218 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 54
219 VSC003 Visceral Leishmaniasis 53
220 c BRL011 Bare Lymphocyte Syndrome, Type I 53
221 c VRL010 Viral Hepatitis 53
222 c HPT007 Hepatitis E 52
223 P ESP035 Esophagitis, Eosinophilic, 1 52
224 P INT001 Intrahepatic Cholestasis 51
225 c BRD013 Bardet-Biedl Syndrome 12 51
226 GNG012 Gingival Overgrowth 51
227 CRH005 Crohn's Colitis 51
228 PRP017 Periapical Periodontitis 50
229 ESP002 Esophageal Varix 50
230 c BRD016 Bardet-Biedl Syndrome 4 50
231 c BRD014 Bardet-Biedl Syndrome 2 50
232 PLP001 Pulpitis 50
233 CHL004 Cholelithiasis 49
234 HPT009 Hepatopulmonary Syndrome 49
235 c BRD018 Bardet-Biedl Syndrome 6 49
236 c BRD015 Bardet-Biedl Syndrome 3 49
237 RCT017 Rectal Disease 49
238 ILT001 Ileitis 48
239 PYL006 Pyloric Stenosis 48
240 P BWL003 Bowel Dysfunction 48
241 UMB002 Umbilical Hernia 47
242 ESP018 Esophageal Candidiasis 47
243 MCR191 Microscopic Colitis 47
244 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
245 c BRD032 Bardet-Biedl Syndrome 14 45
246 c BRD019 Bardet-Biedl Syndrome 7 44
247 c BRD045 Bardet-Biedl Syndrome 19 44
248 c BRD044 Bardet-Biedl Syndrome 17 43
249 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 43
250 P OBS001 Obstructive Jaundice 43
251 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 43
252 c BRD017 Bardet-Biedl Syndrome 5 43
253 c BRD021 Bardet-Biedl Syndrome 9 43
254 MCK029 Meckel Diverticulum 43
255 c BRD033 Bardet-Biedl Syndrome 13 43
256 PCH007 Pouchitis 42
257 VLL006 Villous Adenoma 42
258 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 42
259 c BRD048 Bardet-Biedl Syndrome 18 42
260 DYS011 Dyskinesia of Esophagus 41
261 MGS001 Megaesophagus 41
262 PRC001 Pericoronitis 40
263 c BRD020 Bardet-Biedl Syndrome 8 40
264 FNC002 Functional Diarrhea 40
265 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 40
266 c BRD047 Bardet-Biedl Syndrome 16 39
267 P HYP009 Hypertrophic Pyloric Stenosis 39
268 CHL013 Cholecystolithiasis 39
269 c ACT036 Acute Cholangitis 37
270 c CWD005 Cowden Syndrome 4 37
271 DDN027 Duodenum Disease 37
272 DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 37
273 PST035 Postgastrectomy Syndrome 37
274 CHL039 Choledocholithiasis 37
275 ACL001 Acalculous Cholecystitis 37
276 c BRD053 Bardet-Biedl Syndrome 22 36
277 MCC004 Mucocele of Appendix 36
278 CHM005 Chemical Colitis 35
279 c INF076 Inflammatory Bowel Disease 18 35
280 c BRD035 Bardet-Biedl Syndrome 15 35
281 PST030 Postcholecystectomy Syndrome 34
282 SCR003 Secretory Diarrhea 34
283 PPT002 Peptic Ulcer Perforation 34
284 ESP001 Esophageal Tuberculosis 32
285 c PYL018 Pyloric Stenosis, Infantile Hypertrophic, 1 32
286 c INF088 Inflammatory Bowel Disease 5 32
287 DDN009 Duodenal Obstruction 32
288 CCL002 Cecal Disease 32
289 RFR013 Refractory Celiac Disease 32
290 DDN004 Duodenogastric Reflux 32
291 c INF161 Inflammatory Bowel Disease 28 31
292 DRR013 Diarrhea 8, Secretory Sodium, Congenital 31
293 c FML355 Familial Intrahepatic Cholestasis 31
294 DVR006 Diversion Colitis 30
295 APP018 Appendix Disease 30
296 PLM049 Plummer Vinson Syndrome 30
297 c INT059 Internal Hemorrhoid 30
298 OSM001 Osmotic Diarrhea 30
299 c BRD050 Bardet-Biedl Syndrome 21 29
300 PRC008 Pericholangitis 29
301 c CWD009 Cowden Syndrome 7 29
302 c CNG478 Congenital Diarrhea 29
303 AFF001 Afferent Loop Syndrome 28
304 PRD003 Periodontosis 28
305 EMP002 Emphysematous Cholecystitis 27
306 HYD004 Hydrops of Gallbladder 27
307 c INF075 Inflammatory Bowel Disease 16 27
308 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
309 c BRD051 Bardet-Biedl Syndrome 20 27
310 UND004 Undetermined Colitis 26
311 c INF078 Inflammatory Bowel Disease 2 26
312 PYL002 Pylorospasm 26
313 c CHR036 Chronic Cholangitis 25
314 ASC003 Ascending Cholangitis 25
315 c CHR465 Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity 25
316 SGM001 Sigmoid Disease 25
317 ESP008 Esophageal Leukoplakia 25
318 JJN008 Jejunoileitis 25
319 MCK004 Meckel's Diverticulitis 25
320 c INF083 Inflammatory Bowel Disease 24 24
321 INF173 Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy 24
322 KLQ001 Kilquist Syndrome 24
323 P ACT046 Acute Apical Periodontitis 24
324 SPP004 Suppurative Cholangitis 23
325 c INF079 Inflammatory Bowel Disease 20 23
326 SLT007 Solitary Rectal Ulcer Syndrome 23
327 OCC004 Occlusion of Gallbladder 23
328 ANR003 Anorectal Stricture 23
329 CHR009 Chronic Duodenal Ileus 23
330 c INF073 Inflammatory Bowel Disease 12 23
331 c CHL191 Cholestasis, Progressive Familial Intrahepatic, 10 23
332 CNG624 Congenital Heart Defects, Multiple Types, 8, with or Without Heterotaxy 23
333 SQM005 Squamous Papillomatosis 23
334 BRH001 Boerhaave Syndrome 22
335 PRT107 Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia 22
336 DSP001 Displacement of Cardia Through Esophageal Hiatus 22
337 c CHL188 Cholestasis, Progressive Familial Intrahepatic, 8 22
338 c INF162 Inflammatory Bowel Disease 25 22
339 CPP003 Cap Polyposis 22
340 BNT001 Banti's Syndrome 22
341 c INF085 Inflammatory Bowel Disease 27 22
342 c CHL190 Cholestasis, Progressive Familial Intrahepatic, 9 21
343 ANL005 Anal Spasm 21
344 ANL006 Anal Paget's Disease 20
345 ESP017 Esophageal Diverticulosis 20
346 GLS013 Glossodynia 20
347 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
348 c ATM112 Autoimmune Hepatitis Type 1 20
349 DDN022 Duodenum Adenoma 19
350 c CHL186 Cholestasis, Progressive Familial Intrahepatic, 6 19
351 PLP002 Pulp Degeneration 19
352 STR003 Strawberry Gallbladder 19
353 ESP003 Esophageal Lipoma 19
354 c CHL193 Cholestasis, Progressive Familial Intrahepatic, 12 18
355 CCM005 Cecum Adenoma 18
356 c ATM111 Autoimmune Hepatitis Type 2 18
357 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
358 GLL006 Gallbladder Papillomatosis 17
359 CTN018 Cutaneous Photosensitivity and Colitis, Lethal 16
360 CRY031 Cryptogenic Multifocal Ulcerous Stenosing Enteritis 16
361 c CHL192 Cholestasis, Progressive Familial Intrahepatic, 11 16
362 c SCN046 Secondary Short Bowel Syndrome 16
363 ORP001 Oropharyngeal Anthrax 14
364 MTL001 Motility-Related Diarrhea 13
365 c ESP034 Esophagitis, Eosinophilic, 2 13
366 RCT016 Rectum Leiomyosarcoma 12
367 c PYL011 Pyloric Stenosis, Infantile Hypertrophic, 5 12
368 RCT035 Rectum Adenoma 11
369 APP005 Appendix Leiomyoma 10
370 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 10
371 GLL014 Gallbladder Rhabdomyosarcoma 10
372 ESP007 Esophagus Liposarcoma 10
373 c PYL008 Pyloric Stenosis, Infantile Hypertrophic, 2 9
374 HRS009 Hirschsprung Nail Hypoplasia Dysmorphism 9
375 FBR006 Fibroepithelial Polyp of the Anus 9
376 GLL003 Gallbladder Lipoma 8
377 c PRD018 Periodontitis, Aggressive, 2 8
378 ODN001 Odontoclasia 8
379 c PYL009 Pyloric Stenosis, Infantile Hypertrophic, 3 8
380 c PYL010 Pyloric Stenosis, Infantile Hypertrophic, 4 8
381 c JND003 Jaundice, Familial Obstructive, of Infancy 7
382 LPM003 Lipoma of the Rectum 7
383 ESP019 Esophagus Leiomyosarcoma 7
384 ULC002 Ulcer of Anus and Rectum 7
385 RCT012 Rectum Rhabdomyosarcoma 6
386 5FL002 5-Fluorouracil Poisoning 6
387 ANS005 Anus Leiomyoma 6
388 HGH022 High-Grade Dysplasia in Patients with Barrett Esophagus 4
389 DPH005 Diphtheritic Peritonitis 4
390 c ALP111 Alpi-Related Inflammatory Bowel Disease 4
391 ESP013 Esophagus Squamous Cell Papilloma 4
392 EPT031 Epithelial Tumor of Anal Canal 2
393 CRC014 Carcinoid Tumors, Intestinal 48
394 LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 68
395 P LYN001 Lynch Syndrome 77
396 c LYN005 Lynch Syndrome 1 61
397 NRP049 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux 31
398 c LYN006 Lynch Syndrome 2 43
399 GST107 Gastric Non-Hodgkin Lymphoma 12
400 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
401 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
402 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
403 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
404 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
405 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
406 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
407 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
408 P MTC010 Mitochondrial Dna Depletion Syndrome 47
409 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
410 c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 46
411 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
412 c PLM152 Palmoplantar Keratoderma, Punctate Type Iii 42
413 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
414 ABC001 Abcd Syndrome 39
415 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
416 CLD014 Cole Disease 35
417 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
418 c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 29
419 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
420 P PNC113 Punctate Palmoplantar Keratoderma 26
421 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
422 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
423 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
424 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
425 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
426 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
427 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
428 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
429 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
430 c MTC014 Mitochondrial Dna Deletion Syndromes 15
431 c PLM176 Palmoplantar Keratoderma, Punctate Type Ib 14
432 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
433 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
434 RRD054 Rare Digestive Tumor 7
435 P EPD116 Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia 56
436 c EPD125 Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia 23
437 ASP008 Aspiration Pneumonitis 48
438 P CLR055 Colorectal Cancer, Hereditary Nonpolyposis, Type 6 38
439 MTC096 Mitchell-Riley Syndrome 28
440 INT044 Intestinal Variant Cervical Mucinous Adenocarcinoma 5
441 ACC005 Accessory Pancreas 27
442 PNC011 Pancreatic Vasoactive Intestinal Peptide Producing Tumor 24
443 P PNC044 Pancreatitis 57
444 DHY011 Dihydropyrimidinase Deficiency 44
445 c LYN008 Lynch Syndrome 4 43
446 ACT055 Actinomycosis 51
447 c LYN009 Lynch Syndrome 5 49
448 IMM154 Immunoglobulin a Deficiency 1 47
449 P PRM001 Primary Cutaneous Amyloidosis 44
450 PRM237 Primary Hypomagnesemia 43
451 c AMY111 Amyloidosis, Primary Localized Cutaneous, 3 41
452 c AMY060 Amyloidosis, Primary Localized Cutaneous, 1 41
453 c LYN007 Lynch Syndrome 8 40
454 c GMM003 Gamma Heavy Chain Disease 37
455 P HVY001 Heavy Chain Disease 34
456 PNC016 Pancreatic Cholera 31
457 c CLR100 Colorectal Cancer, Hereditary Nonpolyposis, Type 7 30
458 c ALP087 Alpha-Heavy Chain Disease 29
459 c AMY056 Amyloidosis, Primary Localized Cutaneous, 2 21
460 RTN236 Retinal Dystrophy and Microvillus Inclusion Disease 21
461 P END044 Endometriosis 64
462 P VNW001 Von Willebrand's Disease 64
463 c MYS033 Miyoshi Muscular Dystrophy 1 56
464 PRN011 Pernicious Anemia 54
465 P MYS079 Miyoshi Muscular Dystrophy 53
466 c VNW010 Von Willebrand Disease, Type 2 53
467 FCH001 Fuchs' Endothelial Dystrophy 51
468 c ACQ017 Acquired Von Willebrand Syndrome 50
469 IMM184 Immunodeficiency 17 49
470 c VNW005 Von Willebrand Disease, Type 1 48
471 c VNW008 Von Willebrand Disease, Type 3 47
472 MLK006 Milk Allergy 45
473 c MYS014 Miyoshi Muscular Dystrophy 3 44
474 c PSD048 Pseudo-Von Willebrand Disease 44
475 CYC008 Cyclic Vomiting Syndrome 42
476 KRK001 Krukenberg Carcinoma 40
477 PNC027 Pancreatic Gastrinoma 36
478 EPD025 Epidermolysis Bullosa with Pyloric Atresia 35
479 CPL012 Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth 31
480 P BLC021 Bile Acid Malabsorption, Primary, 1 30
481 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 29
482 SRC011 Sarcocystosis 28
483 c ALP005 Alpha Chain Disease 28
484 c END071 Endometriosis 1 25
485 c HNN004 Hennekam Lymphangiectasia-Lymphedema Syndrome 2 24
486 c HNN006 Hennekam Lymphangiectasia-Lymphedema Syndrome 3 23
487 c BLC022 Bile Acid Malabsorption, Primary, 2 21
488 c MYS019 Miyoshi Muscular Dystrophy 2 21
489 P MCH003 Mu Chain Disease 20
490 DRR022 Diarrhea 12, with Microvillus Atrophy 20
491 CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 18
492 HST012 Histidinuria Renal Tubular Defect 17
493 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
494 LKM072 Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer 11
495 c DLT001 Delta Chain Disease 3
496 FTL017 Fetal Enterovirus Syndrome 2
497 ESP021 Esophageal Cancer 83
498 GST019 Gastrointestinal Stromal Tumor 78
499 c INF071 Inflammatory Bowel Disease 1 74
500 P ALG028 Alagille Syndrome 1 74
501 c PNC108 Pancreatitis, Hereditary 70
502 c CNG411 Congenital Disorder of Glycosylation, Type in 67
503 APP008 Appendicitis 65
504 IRR002 Irritable Bowel Syndrome 64
505 CHL068 Cholestasis 63
506 CLT003 Colitis 62
507 ALC006 Alcoholic Hepatitis 62
508 c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 62
509 P NRB001 Neuroblastoma 62
510 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
511 P PRD008 Periodontitis 61
512 P FTT001 Fatty Liver Disease 61
513 PRN019 Perinatal Necrotizing Enterocolitis 61
514 GST092 Gastroesophageal Reflux 60
515 CHL067 Cholecystitis 60
516 P TRC086 Trichohepatoenteric Syndrome 1 59
517 c ACT027 Acute Pancreatitis 59
518 DGR001 Digeorge Syndrome 59
519 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
520 P INT070 Intestinal Obstruction 58
521 GNG013 Gingivitis 58
522 P WRD001 Waardenburg's Syndrome 57
523 ALC009 Alcoholic Liver Cirrhosis 57
524 GST050 Gastrointestinal System Disease 57
525 c ACT134 Acute Liver Failure 57
526 P CHL066 Cholangitis 56
527 c CHL119 Cholangitis, Primary Sclerosing 56
528 c INT072 Intestinal Pseudo-Obstruction 56
529 AMP013 Ampulla of Vater Cancer 55
530 c WRD033 Waardenburg Syndrome, Type 2e 55
531 c WRD030 Waardenburg Syndrome, Type 1 55
532 HPT046 Hepatic Veno-Occlusive Disease 55
533 P DRR001 Diarrhea 55
534 ALV002 Alveolar Echinococcosis 54
535 P SLV027 Silver-Russell Syndrome 1 54
536 c INF037 Inflammatory Bowel Disease 54
537 CRM001 Crimean-Congo Hemorrhagic Fever 54
538 P RCT021 Rectum Cancer 54
539 DNT012 Dental Caries 54
540 P DDN001 Duodenal Ulcer 54
541 MCS002 Mucositis 54
542 ACT058 Active Peptic Ulcer Disease 54
543 ANS012 Anus Disease 53
544 ESP023 Esophageal Disease 53
545 PPT005 Peptic Ulcer Disease 53
546 INT051 Intussusception 53
547 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
548 RCT036 Rectal Benign Neoplasm 52
549 P INT068 Intestinal Disease 52
550 GST023 Gastric Ulcer 52
551 c MCL066 Macular Dystrophy, Vitelliform, 2 52
552 ILS001 Ileus 52
553 VTM033 Vitamin K Deficiency Bleeding 52
554 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
555 PPT001 Peptic Esophagitis 51
556 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
557 c PRD040 Periodontitis, Chronic 51
558 HND002 Hand, Foot and Mouth Disease 51
559 GNG003 Gingival Recession 51
560 GST037 Gastroparesis 51
561 c FTT011 Fatty Liver Disease 1 50
562 c WRD020 Waardenburg Syndrome, Type 4a 50
563 STM006 Stomach Disease 50
564 INT071 Intestinal Perforation 49
565 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
566 P HRD144 Hereditary Mixed Polyposis Syndrome 49
567 RCT020 Rectum Adenocarcinoma 49
568 MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 49
569 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
570 MGC001 Megacolon 49
571 P ATR005 Atrophic Gastritis 49
572 PRC003 Proctitis 49
573 c WRD032 Waardenburg Syndrome, Type 2a 49
574 HRN026 Hernia, Hiatus 49
575 CLS016 Clostridium Difficile Colitis 48
576 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 48
577 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
578 c ATM024 Autoimmune Pancreatitis 48
579 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
580 IMM252 Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation 48
581 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
582 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
583 CHL056 Cheilitis 47
584 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
585 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
586 P VTL001 Vitelliform Macular Dystrophy 47
587 c WRD031 Waardenburg Syndrome, Type 3 46
588 P SCL009 Sclerosing Cholangitis 46
589 DDN006 Duodenitis 46
590 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
591 DNT006 Dental Pulp Necrosis 46
592 c MCL060 Macular Dystrophy, Vitelliform, 3 46
593 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
594 PRL008 Paralytic Ileus 46
595 PRT019 Protein-Losing Enteropathy 46
596 CLN019 Colonic Disease 45
597 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
598 WHP001 Whipple Disease 45
599 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
600 P BLR006 Biliary Tract Disease 45
601 c INF063 Inflammatory Bowel Disease 25, Autosomal Recessive 44
602 DRR008 Diarrhea 1, Secretory Chloride, Congenital 44
603 P BLD036 Bile Duct Disease 44
604 BLD063 Bile Duct Cysts 44
605 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
606 DMP001 Dumping Syndrome 44
607 CLN044 Colon Adenoma 44
608 DVR002 Diverticulitis 43
609 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
610 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
611 EXT006 Extrahepatic Cholestasis 42
612 c CNG379 Congenital Disorder of Glycosylation, Type It 42
613 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
614 SPP003 Suppurative Periapical Periodontitis 42
615 c TRC078 Trichohepatoenteric Syndrome 2 42
616 DRG002 Drug-Induced Hepatitis 42
617 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
618 DDN003 Duodenum Adenocarcinoma 41
619 ISC015 Ischemic Colitis 41
620 GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 41
621 c NRB010 Neuroblastoma 1 41
622 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
623 INT060 Intestinal Atresia 41
624 CMP002 Campylobacteriosis 41
625 RCT009 Rectosigmoid Cancer 41
626 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
627 ILC002 Ileocolitis 40
628 ALV001 Alveolar Periostitis 40
629 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
630 DNT001 Dental Fluorosis 40
631 GLL017 Gallbladder Adenocarcinoma 40
632 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
633 APP003 Appendiceal Neoplasm 40
634 P PRM018 Primary Hypertrophic Osteoarthropathy 40
635 c ATM101 Autoimmune Gastritis 39
636 TRP004 Tropical Sprue 39
637 c CHR013 Chronic Apical Periodontitis 39
638 CCM004 Cecum Carcinoma 39
639 ADN013 Adenoid Squamous Cell Carcinoma 39
640 ACT062 Acute Pericementitis 39
641 ORL019 Oral Hairy Leukoplakia 39
642 c SCN005 Secondary Hypertrophic Osteoarthropathy 38
643 NKC001 Nk-Cell Enteropathy 37
644 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
645 AMP009 Ampulla of Vater Adenocarcinoma 37
646 PLY138 Polymerase Proofreading-Related Adenomatous Polyposis 37
647 SWL001 Swallowing Disorders 37
648 ESN004 Eosinophilic Gastritis 37
649 c ACT004 Acute Diarrhea 36
650 BRR002 Barrett's Adenocarcinoma 36
651 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
652 BLR002 Bile Reflux 36
653 c WRD019 Waardenburg Syndrome, Type 4b 36
654 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
655 c ALG016 Alagille Syndrome 2 36
656 BLR004 Biliary Dyskinesia 36
657 c WRD022 Waardenburg Syndrome, Type 2d 35
658 P DRR005 Diarrhea 4, Malabsorptive, Congenital 35
659 c CNG188 Congenital Disorder of Glycosylation, Type if 35
660 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
661 CLN006 Colonic Pseudo-Obstruction 35
662 c INF170 Inflammatory Bowel Disease 29 34
663 c WRD029 Waardenburg Syndrome, Type 2b 34
664 c CLR077 Colorectal Cancer 10 34
665 GRN009 Granulomatous Hepatitis 34
666 c INF002 Inflammatory Diarrhea 34
667 LNT001 Linitis Plastica 34
668 TXC001 Toxic Megacolon 34
669 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
670 DNT010 Dentin Caries 34
671 NDL013 Nodular Regenerative Hyperplasia 33
672 MYH016 Myh-Associated Polyposis 33
673 GST039 Gastroduodenitis 33
674 c ATM113 Autoimmune Cholangitis 33
675 c INF093 Inflammatory Bowel Disease 14 33
676 PRM014 Periampullary Adenocarcinoma 33
677 ESP005 Esophagus Carcinoma in Situ 33
678 HYP021 Hypercementosis 33
679 TTH030 Teeth, Supernumerary 33
680 JJN007 Jejunal Adenocarcinoma 33
681 LYM035 Lymphangiectasis 32
682 ANS025 Anus Benign Neoplasm 32
683 SRN002 Sirenomelia 32
684 GST007 Gastric Dilatation 32
685 c NRB015 Neuroblastoma 2 32
686 c DRR009 Diarrhea 6 32
687 NRG001 Neurogenic Bowel 32
688 c CLR075 Colorectal Cancer 3 31
689 c INF194 Infantile Liver Failure Syndrome 31
690 PNM003 Pneumatosis Cystoides Intestinalis 31
691 RTC003 Root Caries 31
692 PYR008 Pyriform Sinus Cancer 31
693 c PLY066 Polyposis Syndrome, Hereditary Mixed, 2 31
694 c SLV028 Silver-Russell Syndrome 3 31
695 HPT008 Hepatic Tuberculosis 31
696 GRD004 Gardner-Diamond Syndrome 31
697 BLD035 Bile Duct Cystadenoma 31
698 c INF138 Infantile Liver Failure Syndrome 2 31
699 ANS001 Anus Basaloid Carcinoma 31
700 P BLR024 Biliary Cirrhosis, Primary, 1 30
701 LVR010 Liver Leiomyosarcoma 30
702 ESP009 Esophageal Neuroendocrine Tumor 30
703 c INF086 Inflammatory Bowel Disease 3 30
704 GST011 Gastric Liposarcoma 30
705 XNT002 Xanthogranulomatous Cholecystitis 30
706 PPM002 Ppoma 30
707 c PRS050 Prss1-Related Hereditary Pancreatitis 30
708 c INF160 Inflammatory Bowel Disease 17 29
709 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 29
710 PRN017 Perianal Hematoma 29
711 c WRD026 Waardenburg Syndrome, Type 2c 29
712 P NNT037 Neonatal Inflammatory Skin and Bowel Disease 29
713 HPT006 Hepatic Angiomyolipoma 29
714 AMP014 Ampulla of Vater Benign Neoplasm 29
715 c INF077 Inflammatory Bowel Disease 19 29
716 c INF089 Inflammatory Bowel Disease 6 29
717 LPM002 Lipoma of Colon 29
718 c NRB014 Neuroblastoma 3 28
719 c DRR021 Diarrhea 11, Malabsorptive, Congenital 28
720 LVR001 Liver Lipoma 28
721 CSC001 Cascade Stomach 28
722 c INF144 Inflammatory Skin and Bowel Disease, Neonatal, 1 28
723 CLN011 Colon Leiomyoma 28
724 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
725 c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 28
726 DVR001 Diverticulitis of Colon 28
727 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 28
728 GST018 Gastrointestinal Tularemia 28
729 NCR005 Necrotizing Gastritis 28
730 CRT011 Carotenemia 28
731 GST013 Gastrojejunal Ulcer 27
732 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
733 LVR005 Liver Leiomyoma 27
734 c INF193 Inflammatory Bowel Disease 30 27
735 c CMM007 Common Bile Duct Disease 27
736 APP013 Appendix Carcinoid Tumor 27
737 SML006 Small Intestine Leiomyoma 27
738 CHL040 Cholangiolocellular Carcinoma 27
739 EPS001 Epstein-Barr Virus Hepatitis 27
740 INT049 Intrahepatic Bile Duct Adenoma 27
741 c SLV029 Silver-Russell Syndrome 2 27
742 GST090 Gastroduodenal Crohn's Disease 27
743 c INF072 Inflammatory Bowel Disease 11 27
744 HTR001 Heterophyiasis 27
745 JJN002 Jejunal Neoplasm 27
746 BLR005 Biliary Papillomatosis 27
747 FNC005 Functional Colonic Disease 27
748 GST006 Gastric Leiomyoma 26
749 GLL029 Gallbladder Adenoma 26
750 PRM190 Periampullary Adenoma 26
751 c SLV020 Silver-Russell Syndrome Due to a Point Mutation 26
752 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
753 PNC028 Pancreatic Steatorrhea 26
754 SND005 Sandifer Syndrome 26
755 DDN005 Duodenal Somatostatinoma 26
756 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
757 VLL005 Vallecula Cancer 26
758 P GST043 Gastric Teratoma 26
759 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 25
760 c LVR033 Liver Disease, Severe Congenital 25
761 CPL001 Capillariasis 25
762 GLL009 Gallbladder Signet Ring Cell Adenocarcinoma 25
763 c DRR018 Diarrhea 9 25
764 c INF082 Inflammatory Bowel Disease 23 25
765 FNC006 Functional Gastric Disease 25
766 c INF190 Infantile Liver Failure Syndrome 3 25
767 c INF067 Inflammatory Bowel Disease 10 25
768 MCR014 Microcystic Adenoma 25
769 RCT013 Rectum Signet Ring Adenocarcinoma 25
770 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
771 c RCT010 Rectum Carcinoma in Situ 25
772 MDN001 Median Rhomboid Glossitis 24
773 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
774 c INF092 Inflammatory Bowel Disease 9 24
775 c SLV031 Silver-Russell Syndrome 5 24
776 c INF068 Inflammatory Bowel Disease 13 24
777 c MCL061 Macular Dystrophy, Vitelliform, 4 24
778 c INF074 Inflammatory Bowel Disease 15 24
779 ANS010 Anus Adenocarcinoma 24
780 ADN005 Adenosquamous Gallbladder Carcinoma 24
781 c SCN059 Secondary Sclerosing Cholangitis 23
782 DDN023 Duodenal Benign Neoplasm 23
783 LRG007 Large Intestine Lipoma 23
784 GLL021 Gallbladder Sarcoma 23
785 DDN028 Duodenal Neuroendocrine Tumor 23
786 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
787 ALC012 Alcoholic Gastritis 23
788 ESN022 Eosinophilic Colitis 23
789 GRN011 Granulomatous Gastritis 23
790 c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 23
791 c CHR464 Chronic Intestinal Failure 23
792 TRH001 Trehalase Deficiency 23
793 GLL016 Gallbladder Leiomyosarcoma 23
794 c GLL050 Gallbladder Carcinoma in Situ 22
795 ESP010 Esophageal Basaloid Squamous Cell Carcinoma 22
796 c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 22
797 ACQ006 Acquired Gastric Outlet Stenosis 22
798 c MCL056 Macular Dystrophy, Vitelliform, 5 22
799 c ATM064 Autoimmune Pancreatitis Type 1 22
800 FNG003 Fungal Esophagitis 22
801 ACH015 Achalasia, Familial Esophageal 22
802 INT050 Intestinal Impaction 22
803 LRG015 Large Intestine Adenoma 22
804 c SLV019 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 21
805 NRF004 Neurofibroma of the Esophagus 21
806 c MCL073 Macular Dystrophy, Vitelliform, 1 21
807 GLL011 Gallbladder Leiomyoma 21
808 CNG298 Congenital Pancreatic Cyst 21
809 c INF087 Inflammatory Bowel Disease 4 21
810 IMM251 Immunodeficiency 85 and Autoimmunity 21
811 c INF090 Inflammatory Bowel Disease 7 20
812 c WRD034 Waardenburg Syndrome, Type 2f 20
813 c SLV030 Silver-Russell Syndrome 4 20
814 ORF044 Orofacial Granulomatosis 20
815 c SLV022 Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 20
816 c CRN242 Corneal Dystrophy, Fuchs Endothelial, 2 20
817 c INF080 Inflammatory Bowel Disease 21 20
818 TRS011 Trisomy 2 Mosaicism 20
819 ESP026 Esophagus Sarcoma 20
820 RCT002 Rectum Lymphoma 19
821 c INF081 Inflammatory Bowel Disease 22 19
822 ADN072 Adenoma of Pancreas 19
823 INV015 Invasive Non-Typhoidal Salmonellosis 19
824 c ATM063 Autoimmune Pancreatitis Type 2 18
825 PLY003 Polycystic Echinococcosis 18
826 TNS006 Tonsillar Pillar Cancer 18
827 MXD007 Mixed Hepatoblastoma 18
828 UPP002 Upper Lip Cancer 18
829 FML254 Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion 18
830 ANL010 Anal Neuroendocrine Tumor 18
831 MCP008 Mucoepidermoid Esophageal Carcinoma 17
832 ANL009 Anal Canal Paget's Disease 17
833 SML005 Small Intestine Diverticulitis 17
834 c INF091 Inflammatory Bowel Disease 8 17
835 c INF084 Inflammatory Bowel Disease 26 17
836 c SLV015 Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 17
837 LVR009 Liver Rhabdomyosarcoma 17
838 PRF001 Perforation of Bile Duct 17
839 c AXN008 Axin2-Related Attenuated Familial Adenomatous Polyposis 17
840 GLT030 Gluten Allergy 16
841 PRM324 Primary Eosinophilic Gastrointestinal Disease 16
842 ESP014 Esophagus Leiomyoma 15
843 c BLR017 Biliary Cirrhosis, Primary, 3 15
844 c FTT012 Fatty Liver Disease 2 15
845 c NRB012 Neuroblastoma 5 15
846 c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 14
847 c NRB016 Neuroblastoma 7 14
848 IDP071 Idiopathic Copper-Associated Cirrhosis 14
849 UND008 Undifferentiated Carcinoma of Esophagus 14
850 LVR008 Liver Fibrosarcoma 13
851 CRH002 Crohn's Disease of the Esophagus 13
852 c NRB011 Neuroblastoma 4 13
853 NRN032 Neuroendocrine Tumor of Anal Canal 12
854 c CRN122 Corneal Dystrophy, Fuchs Endothelial, 7 12
855 INF175 Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome 12
856 c NRB013 Neuroblastoma 6 12
857 RCT022 Rectum Sarcoma 12
858 END008 Endometriosis of Intestine 11
859 MTR006 Mature Gastric Teratoma 11
860 c DDN013 Duodenal Ulcer Due to Antral G-Cell Hyperfunction 11
861 PDT044 Pediatric Collagenous Gastritis 10
862 c SSC054 Susceptibility to Localized Juvenile Periodontitis 10
863 c RRN023 Rare Intestinal Disease 10
864 BTH003 Bothriocephalosis 10
865 16Q002 16q24.1 Microdeletion Syndrome 10
866 NRF005 Neurofibroma of Gallbladder 10
867 c RRN022 Rare Inflammatory Bowel Disease 10
868 GLL002 Gallbladder Angiosarcoma 10
869 CHK002 Cheek Mucosa Cancer 9
870 APP004 Appendix Mucinous Cystadenocarcinoma 9
871 ANL003 Anal Buschke-Lowenstein Tumor 9
872 c CNG628 Congenital Disorder of Glycosylation Iw 9
873 TNS003 Tonsillar Fossa Cancer 8
874 LWR002 Lower Gum Cancer 8
875 MCK001 Meckel's Diverticulum Cancer 8
876 c RRB009 Rare Biliary Tract Disease 8
877 RCT004 Rectum Leiomyoma 8
878 AMP006 Ampulla of Vater Squamous Cell Carcinoma 8
879 AMP005 Ampullary Signet Ring Cell Adenocarcinoma 8
880 MCR005 Macrotrabecular Hepatoblastoma 8
881 UVL001 Uvula Cancer 7
882 EXT013 Extrahepatic Bile Duct Leiomyoma 7
883 LRG006 Large Bowel Leiomyoma 7
884 PRN015 Perinatal Intestinal Perforation 7
885 AMP001 Ampulla of Vater Mucinous Adenocarcinoma 7
886 AMP008 Ampulla of Vater Clear Cell Adenocarcinoma 7
887 UPP003 Upper Gum Cancer 7
888 PRN012 Perianal Skin Paget's Disease 7
889 RCT014 Rectum Kaposi's Sarcoma 7
890 P DSR041 Disorder of Multiple Glycosylation 6
891 EXT005 Extrahepatic Bile Duct Lipoma 6
892 PST031 Postcricoid Region Cancer 6
893 ARY001 Aryepiglottic Fold Cancer 6
894 NNH007 Non-Hypoproteinemic Hypertrophic Gastropathy 6
895 ANS008 Anus Rhabdomyosarcoma 6
896 APP007 Appendiceal L-Cell Glucagon-Like Peptide Producing Tumor 6
897 SGN003 Signet Ring Cell Intrahepatic Cholangiocarcinoma 6
898 c TRM030 Trim22-Related Inflammatory Bowel Disease 5
899 c PRM318 Primary Short Bowel Syndrome 5
900 PRM343 Primary Desmosis Coli 5
901 STM002 Stomach Diverticulosis 5
902 EPT030 Epithelial Tumor of the Appendix 5
903 c PRM296 Primary Autoimmune Enteropathy 5
904 LCL008 L-Cell Glucagon-Like Peptide Producing Tumor 5
905 GLL010 Gallbladder Mucinous Carcinoma 5
906 MYP066 Myopathic Intestinal Pseudoobstruction 5
907 RCT001 Rectum Sarcomatoid Carcinoma 4
908 DSR054 Disorder of Lipid Absorption and Transport 4
909 c INT359 Intestinal Disease Due to Fat Malabsorption 4
910 RRP013 Rare Epithelial Tumor of Rectum 4
911 CNG572 Congenital Disorder of Glycosylation with Intestinal Involvement 4
912 CLN013 Colonic L-Cell Glucagon-Like Peptide Producing Tumor 4
913 SML013 Small Intestinal L-Cell Glucagon-Like Peptide Producing Tumor 4
914 ILL006 Ileal Pouch Anal Anastomosis Related Faecal Incontinence 4
915 c CNG604 Congenital Intestinal Disease Due to an Enzymatic Defect 3
916 c INT360 Intestinal Disease Due to Vitamin Absorption Anomaly 3
917 SYN135 Syndromic Autoimmune Enteropathy 3
918 CNG603 Congenital Enteropathy Involving Intestinal Mucosa Development 3
919 DGS006 Digestive Duplication Cyst of the Tongue 11
920 BLD014 Bladder Colonic Type Adenocarcinoma 5
921 P CND004 Candidiasis 58
922 c INT483 Intellectual Developmental Disorder, Autosomal Dominant 1 50
923 c INT520 Intellectual Developmental Disorder, Autosomal Dominant 7 46
924 c INT548 Intellectual Developmental Disorder, Autosomal Dominant 36 43
925 c INT538 Intellectual Developmental Disorder, Autosomal Dominant 23 42
926 MNT006 Manitoba Oculotrichoanal Syndrome 40
927 c INT539 Intellectual Developmental Disorder, Autosomal Dominant 26 39
928 c INT536 Intellectual Developmental Disorder, Autosomal Dominant 21 39
929 c INT533 Intellectual Developmental Disorder, Autosomal Dominant 13 39
930 c ATS525 Autosomal Dominant Intellectual Developmental Disorder 8 38
931 c INT542 Intellectual Developmental Disorder, Autosomal Dominant 29 37
932 c INT516 Intellectual Developmental Disorder, Autosomal Dominant 5 37
933 c INT547 Intellectual Developmental Disorder, Autosomal Dominant 35 37
934 c INT513 Intellectual Developmental Disorder, Autosomal Dominant 22 36
935 c INT453 Intellectual Developmental Disorder, Autosomal Dominant 42 36
936 c INT455 Intellectual Developmental Disorder, Autosomal Dominant 56 35
937 c INT550 Intellectual Developmental Disorder, Autosomal Dominant 41 34
938 c INT514 Intellectual Developmental Disorder, Autosomal Dominant 3 32
939 c INT551 Intellectual Developmental Disorder, Autosomal Dominant 43 32
940 c INT557 Intellectual Developmental Disorder, Autosomal Dominant 48 32
941 c INT507 Intellectual Developmental Disorder, Autosomal Recessive 5 31
942 P ATS522 Autosomal Dominant Intellectual Developmental Disorder 31
943 c INT555 Intellectual Developmental Disorder, Autosomal Dominant 46 30
944 c INT549 Intellectual Developmental Disorder, Autosomal Dominant 38 30
945 c INT537 Intellectual Developmental Disorder, Autosomal Recessive 41 30
946 c INT472 Intellectual Developmental Disorder, Autosomal Recessive 39 29
947 c INT546 Intellectual Developmental Disorder, Autosomal Dominant 33 29
948 c ATS526 Autosomal Dominant Intellectual Developmental Disorder 19 29
949 c INT556 Intellectual Developmental Disorder, Autosomal Dominant 47 29
950 c INT521 Intellectual Developmental Disorder, Autosomal Dominant 2 29
951 c INT505 Intellectual Developmental Disorder, Autosomal Recessive 2 29
952 c INT560 Intellectual Developmental Disorder, Autosomal Dominant 52 28
953 c INT460 Intellectual Developmental Disorder, Autosomal Recessive 38 28
954 c INT554 Intellectual Developmental Disorder, Autosomal Dominant 45 28
955 c ATS527 Autosomal Dominant Intellectual Developmental Disorder 31 28
956 c CND033 Candidiasis, Familial, 1 28
957 c INT566 Intellectual Developmental Disorder, Autosomal Dominant 58 27
958 c INT475 Intellectual Developmental Disorder, Autosomal Dominant 39 27
959 c INT562 Intellectual Developmental Disorder, Autosomal Dominant 54 27
960 c INT563 Intellectual Developmental Disorder, Autosomal Dominant 57 27
961 c INT517 Intellectual Developmental Disorder, Autosomal Recessive 13 27
962 c CND025 Candidiasis, Familial, 8 27
963 c INT535 Intellectual Developmental Disorder, Autosomal Recessive 37 27
964 c ATS523 Autosomal Recessive Intellectual Developmental Disorder 26
965 c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 26
966 c INT545 Intellectual Developmental Disorder, Autosomal Recessive 48 26
967 c INT558 Intellectual Developmental Disorder, Autosomal Recessive 61 26
968 c INT515 Intellectual Developmental Disorder, Autosomal Dominant 4 26
969 c INT561 Intellectual Developmental Disorder, Autosomal Dominant 53 26
970 c INT544 Intellectual Developmental Disorder, Autosomal Recessive 46 25
971 c INT567 Intellectual Developmental Disorder, Autosomal Recessive 65 25
972 c INT508 Intellectual Developmental Disorder, Autosomal Recessive 7 25
973 c INT388 Intellectual Developmental Disorder, Autosomal Dominant 62 25
974 c CND036 Candidiasis, Familial, 4 25
975 c INT348 Intellectual Developmental Disorder, Autosomal Recessive 71 24
976 c INT506 Intellectual Developmental Disorder, Autosomal Recessive 3 24
977 c INT523 Intellectual Developmental Disorder, Autosomal Dominant 10 24
978 c ATS524 Autosomal Dominant Intellectual Developmental Disorder 6 24
979 c INT471 Intellectual Developmental Disorder, Autosomal Recessive 27 24
980 c INT400 Intellectual Developmental Disorder, Autosomal Dominant 65 24
981 c INT344 Intellectual Developmental Disorder, Autosomal Recessive 69 24
982 c INT336 Intellectual Developmental Disorder, Autosomal Recessive 68 24
983 c INT385 Intellectual Developmental Disorder, Autosomal Dominant 61 24
984 c CND031 Candidiasis, Familial, 9 24
985 c INT478 Intellectual Developmental Disorder, Autosomal Recessive 57 24
986 c INT559 Intellectual Developmental Disorder, Autosomal Dominant 51 24
987 c INT479 Intellectual Developmental Disorder, Autosomal Recessive 58 24
988 c INT477 Intellectual Developmental Disorder, Autosomal Recessive 74 24
989 c INT335 Intellectual Developmental Disorder, Autosomal Recessive 67 23
990 c INT462 Intellectual Developmental Disorder, Autosomal Dominant 34 23
991 c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 23
992 c INT540 Intellectual Developmental Disorder, Autosomal Recessive 44 23
993 c INT484 Intellectual Developmental Disorder, Autosomal Recessive 1 23
994 c INT364 Intellectual Developmental Disorder, Autosomal Recessive 72 23
995 c INT468 Intellectual Developmental Disorder, Autosomal Recessive 66 23
996 c ATS529 Autosomal Dominant Intellectual Developmental Disorder 40 22
997 c CND037 Candidiasis, Familial, 6 22
998 c INT398 Intellectual Developmental Disorder, Autosomal Recessive 12 22
999 c INT452 Intellectual Developmental Disorder, Autosomal Recessive 6 22
1000 c INT575 Intellectual Developmental Disorder, Autosomal Dominant 67 22
1001 c INT519 Intellectual Developmental Disorder, Autosomal Recessive 14 22
1002 c INT474 Intellectual Developmental Disorder, Autosomal Recessive 43 22
1003 c INT553 Intellectual Developmental Disorder, Autosomal Recessive 60 21
1004 c INT480 Intellectual Developmental Disorder, Autosomal Recessive 73 21
1005 c INT565 Intellectual Developmental Disorder, Autosomal Recessive 64 21
1006 c INT386 Intellectual Developmental Disorder, Autosomal Dominant 59 21
1007 c INT577 Intellectual Developmental Disorder, Autosomal Dominant 68 21
1008 c INT579 Intellectual Developmental Disorder, Autosomal Recessive 77 21
1009 c INT573 Intellectual Developmental Disorder, Autosomal Dominant 66 21
1010 c INT464 Intellectual Developmental Disorder, Autosomal Recessive 51 21
1011 c INT534 Intellectual Developmental Disorder, Autosomal Recessive 35 20
1012 c INT564 Intellectual Developmental Disorder, Autosomal Recessive 63 20
1013 c INT512 Intellectual Developmental Disorder, Autosomal Recessive 4 19
1014 c INT467 Intellectual Developmental Disorder, Autosomal Recessive 56 19
1015 c INT461 Intellectual Developmental Disorder, Autosomal Recessive 47 18
1016 c INT576 Intellectual Developmental Disorder, Autosomal Recessive 76 18
1017 c INT541 Intellectual Developmental Disorder, Autosomal Recessive 45 18
1018 c INT509 Intellectual Developmental Disorder, Autosomal Recessive 9 18
1019 c INT463 Intellectual Developmental Disorder, Autosomal Recessive 50 18
1020 c INT466 Intellectual Developmental Disorder, Autosomal Recessive 54 18
1021 c FML334 Familial Candidiasis 17
1022 c INT465 Intellectual Developmental Disorder, Autosomal Recessive 52 17
1023 c INT531 Intellectual Developmental Disorder, Autosomal Recessive 25 17
1024 c INT510 Intellectual Developmental Disorder, Autosomal Recessive 10 17
1025 c INT552 Intellectual Developmental Disorder, Autosomal Recessive 59 17
1026 c INT527 Intellectual Developmental Disorder, Autosomal Recessive 30 16
1027 c CND027 Candidiasis, Familial, 3 16
1028 c INT526 Intellectual Developmental Disorder, Autosomal Recessive 33 16
1029 c INT530 Intellectual Developmental Disorder, Autosomal Recessive 24 16
1030 c INT525 Intellectual Developmental Disorder, Autosomal Recessive 29 16
1031 c INT522 Intellectual Developmental Disorder, Autosomal Recessive 16 15
1032 c INT532 Intellectual Developmental Disorder, Autosomal Recessive 28 15
1033 c INT529 Intellectual Developmental Disorder, Autosomal Recessive 23 15
1034 c INT572 Intellectual Developmental Disorder, Autosomal Dominant 69 15
1035 c INT524 Intellectual Developmental Disorder, Autosomal Recessive 31 14
1036 c INT511 Intellectual Developmental Disorder, Autosomal Recessive 11 14
1037 c INT528 Intellectual Developmental Disorder, Autosomal Recessive 19 14
1038 c ATS531 Autosomal Recessive Intellectual Developmental Disorder 75 6
1039 c ATS530 Autosomal Recessive Intellectual Developmental Disorder 34 5
1040 c HRD010 Hereditary Spastic Paraplegia 68
1041 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
1042 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
1043 LST001 Listeriosis 58
1044 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
1045 c PTT056 Pituitary Adenoma 1, Multiple Types 55
1046 CLB003 Coloboma of Optic Nerve 54
1047 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1048 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
1049 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
1050 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
1051 c HRD227 Hereditary Spastic Paraplegia 35 50
1052 P PTT006 Pituitary Adenoma 50
1053 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
1054 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
1055 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
1056 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
1057 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
1058 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
1059 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
1060 c FML053 Familial Colorectal Cancer 45
1061 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
1062 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
1063 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
1064 c HRD220 Hereditary Spastic Paraplegia 30 45
1065 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
1066 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
1067 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
1068 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
1069 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
1070 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
1071 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1072 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
1073 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
1074 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
1075 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
1076 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 42
1077 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
1078 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
1079 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
1080 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
1081 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
1082 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
1083 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
1084 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
1085 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
1086 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
1087 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
1088 IMM201 Immunodeficiency 63 with Lymphoproliferation and Autoimmunity 39
1089 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
1090 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
1091 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
1092 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
1093 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
1094 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
1095 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
1096 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
1097 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
1098 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
1099 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
1100 c HRD229 Hereditary Spastic Paraplegia 56 35
1101 c SPS092 Spastic Paraplegia 11 35
1102 INT313 Intellectual Developmental Disorder with Cardiac Arrhythmia 34
1103 P SPS012 Spastic Paraplegia 3a 34
1104 c HRD226 Hereditary Spastic Paraplegia 49 33
1105 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1106 c PTT061 Pituitary Adenoma 3, Multiple Types 32
1107 c SPS025 Spastic Paraplegia 15 32
1108 c PTT060 Pituitary Adenoma 5, Multiple Types 32
1109 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
1110 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
1111 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
1112 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
1113 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
1114 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
1115 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
1116 c HRD186 Hereditary Spastic Paraplegia 51 29
1117 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1118 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
1119 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1120 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
1121 c HRD188 Hereditary Spastic Paraplegia 72 29
1122 c SPS091 Spastic Paraplegia 4 29
1123 c SPS013 Spastic Paraplegia 8 28
1124 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1125 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
1126 DST016 Distomatosis 26
1127 c HRD210 Hereditary Spastic Paraplegia 23 24
1128 c SPS042 Spastic Paraplegia 9 24
1129 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
1130 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
1131 c VSC070 Visceral Neuropathy, Familial, 2, Autosomal Recessive 20
1132 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
1133 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
1134 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1135 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1136 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
1137 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1138 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1139 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1140 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1141 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1142 ENT017 Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency 11
1143 c SPS040 Spastic Paraplegia 5b 7
1144 GST109 Gastroenteric Neuroendocrine Neoplasm 3
1145 P CLR023 Colorectal Cancer 100
1146 c MSM022 Mismatch Repair Cancer Syndrome 1 73
1147 P LVR013 Liver Disease 71
1148 P SHW006 Shwachman-Diamond Syndrome 1 68
1149 P CWD010 Cowden Syndrome 68
1150 IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 67
1151 P CNG042 Congenital Central Hypoventilation Syndrome 67
1152 P GLC113 Galactosemia I 66
1153 P GLL018 Gallbladder Cancer 65
1154 PRM236 Primary Biliary Cholangitis 62
1155 c CNT119 Central Hypoventilation Syndrome, Congenital, 1 62
1156 P PLV020 Pelvic Organ Prolapse 62
1157 c ATM011 Autoimmune Hepatitis 62
1158 P NSP012 Nasopharyngeal Carcinoma 62
1159 BRR014 Barrett Esophagus 61
1160 SHG001 Shigellosis 61
1161 FBR086 Fibrolamellar Carcinoma 60
1162 ESP020 Esophageal Atresia 59
1163 GST045 Gastroenteritis 59
1164 ANS023 Anus, Imperforate 58
1165 LYM004 Lymphoid Interstitial Pneumonia 58
1166 ERY003 Erythema Multiforme 56
1167 CD4003 Cd40 Ligand Deficiency 56
1168 P GST044 Gastritis 56
1169 ANS011 Anus Cancer 55
1170 CLN015 Colon Adenocarcinoma 55
1171 c GLC111 Galactosemia Ii 55
1172 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 54
1173 c GLC112 Galactosemia Iii 53
1174 LSS003 Lassa Fever 53
1175 PSD007 Pseudomyxoma Peritonei 52
1176 P SHR001 Short Bowel Syndrome 52
1177 DYS015 Dysentery 52
1178 DDN011 Duodenal Atresia 51
1179 HYP082 Hypopharynx Cancer 51
1180 SLV012 Salivary Gland Adenoid Cystic Carcinoma 51
1181 c CWD008 Cowden Syndrome 6 50
1182 MRB001 Marburg Hemorrhagic Fever 50
1183 SGW002 Segawa Syndrome, Autosomal Recessive 50
1184 ORP003 Oropharynx Cancer 50
1185 GST049 Gastrointestinal System Cancer 49
1186 INT079 Intrahepatic Cholangiocarcinoma 48
1187 GLS007 Glossitis 48
1188 INT017 Intestinal Schistosomiasis 47
1189 MCR037 Macroglossia 47
1190 CRY003 Cryptosporidiosis 47
1191 GLC036 Glucagonoma 47
1192 P MSM014 Mismatch Repair Cancer Syndrome 47
1193 c WRD024 Waardenburg Syndrome, Type 4c 47
1194 PNC034 Pancreas Disease 46
1195 PNC118 Pancreas, Annular 46
1196 GST071 Gastrointestinal Carcinoma 46
1197 P ORL007 Oral Cavity Cancer 46
1198 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 45
1199 GST095 Gastritis, Familial Giant Hypertrophic 45
1200 c INF145 Infantile Liver Failure Syndrome 1 45
1201 MCN017 Meconium Ileus 45
1202 GST105 Gastroesophageal Adenocarcinoma 45
1203 ANL022 Anal Fistula 45
1204 CLC011 Cloacal Exstrophy 44
1205 ENT001 Enterocele 44
1206 TNS004 Tonsil Cancer 44
1207 ANG011 Angiodysplasia 44
1208 CLN003 Clonorchiasis 44
1209 ASC004 Ascending Colon Cancer 44
1210 HPT067 Hepatocellular Adenoma 43
1211 APP010 Appendix Cancer 43
1212 SLV003 Salivary Gland Disease 42
1213 ANL004 Anal Canal Squamous Cell Carcinoma 42
1214 PRP098 Proprotein Convertase 1/3 Deficiency 42
1215 RCT008 Rectosigmoid Junction Neoplasm 42
1216 P HYP888 Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 41
1217 MCR011 Microinvasive Gastric Cancer 41
1218 CLL021 Collagenous Colitis 41
1219 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 41
1220 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 41
1221 GNT001 Giant Cell Reparative Granuloma 41
1222 INT014 Intrahepatic Gall Duct Cancer 41
1223 GBL002 Goblet Cell Carcinoid 40
1224 SML039 Small Intestine Benign Neoplasm 40
1225 c LVR030 Liver Failure, Infantile, Transient 40
1226 P LPC002 Lip Cancer 40
1227 c CNG413 Congenital Short Bowel Syndrome 40
1228 P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 40
1229 INT046 Intestinal Tuberculosis 39
1230 DSC005 Descending Colon Cancer 38
1231 SLL001 Sialolithiasis 38
1232 c FML299 Familial Adenomatous Polyposis 3 38
1233 GST028 Gastric Squamous Cell Carcinoma 38
1234 JJN004 Jejunal Atresia 38
1235 TMP019 Temporomandibular Joint Anomaly 38
1236 EHR002 Ehrlichiosis 38
1237 TRN003 Transverse Colon Cancer 38
1238 ANL017 Anal Squamous Cell Carcinoma 38
1239 c CWD004 Cowden Syndrome 5 38
1240 BLD032 Bile Duct Adenocarcinoma 37
1241 P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 37
1242 BLN006 Blind Loop Syndrome 37
1243 c CNG002 Congenital Bile Acid Synthesis Defect 37
1244 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 36
1245 RCT005 Rectum Neuroendocrine Neoplasm 36
1246 JJN003 Jejunal Cancer 35
1247 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 35
1248 NM001 Noma 35
1249 PNC039 Pancreatic Cystadenoma 35
1250 ASC009 Ascites, Chylous 35
1251 PNC002 Pancreatic Mucinous Cystadenoma 34
1252 MTG001 Metagonimiasis 34
1253 c CLR087 Colorectal Cancer 12 34
1254 SML014 Small Intestine Leiomyosarcoma 34
1255 HPT081 Hepatic Infarction 33
1256 PLM009 Pleomorphic Adenoma Carcinoma 33
1257 c CLR085 Colorectal Cancer 1 33
1258 CHR067 Chronic Intestinal Vascular Insufficiency 33
1259 RDT013 Radiation Proctitis 33
1260 GST036 Gastric Leiomyosarcoma 33
1261 ACT060 Acute Vascular Insufficiency of Intestine 32
1262 LVR004 Liver Inflammatory Pseudotumor 32
1263 ESP006 Esophageal Adenosquamous Carcinoma 32
1264 PLS002 Peliosis Hepatis 32
1265 c FML311 Familial Colorectal Cancer Type X 32
1266 BLD019 Bile Duct Cystadenocarcinoma 32
1267 ESP011 Esophagus Verrucous Carcinoma 32
1268 GST042 Gastric Diffuse Adenocarcinoma 31
1269 CCM001 Cecum Adenocarcinoma 31
1270 CRD005 Cardia Cancer 31
1271 ANL014 Anal Canal Adenocarcinoma 31
1272 MLG038 Malignant Anus Melanoma 31
1273 TNS013 Tonsil Squamous Cell Carcinoma 31
1274 NRT006 North American Indian Childhood Cirrhosis 31
1275 SGM002 Sigmoid Neoplasm 30
1276 c HYP891 Hyperphosphatasia with Impaired Intellectual Development Syndrome 4 30
1277 c HYP890 Hyperphosphatasia with Impaired Intellectual Development Syndrome 2 30
1278 ADN006 Adenosquamous Colon Carcinoma 30
1279 CCL003 Cecal Benign Neoplasm 30
1280 SLD011 Solid Pseudopapillary Carcinoma of Pancreas 30
1281 c JVN034 Juvenile Polyposis of Infancy 30
1282 c GLC115 Galactosemia Iv 30
1283 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 29
1284 SFT002 Soft Palate Cancer 29
1285 LYM015 Lymphocytic Gastritis 29
1286 PNC042 Pancreatic Intraductal Papillary-Colloid Carcinoma 29
1287 ACN026 Acinar Cell Carcinoma of Pancreas 29
1288 ESP029 Esophageal Atresia/tracheoesophageal Fistula 28
1289 LVR014 Liver Sarcoma 28
1290 CMM001 Common Bile Duct Neoplasm 28
1291 CYC002 Cyclosporiasis 28
1292 MCN020 Mucinous Cystadenocarcinoma of Pancreas 28
1293 ATM015 Autoimmune Disease of Gastrointestinal Tract 28
1294 c SHW007 Shwachman-Diamond Syndrome 2 28
1295 PNS015 Penoscrotal Transposition 28
1296 DPH012 Diphallia 28
1297 GST016 Gastric Signet Ring Cell Adenocarcinoma 28
1298 HPT011 Hepatocellular Clear Cell Carcinoma 28
1299 MCC003 Mucocele of Salivary Gland 28
1300 P NRN038 Neuronal Intestinal Dysplasia, Type B 27
1301 c MSM025 Mismatch Repair Cancer Syndrome 4 27
1302 SCL007 Sclerosing Hepatic Carcinoma 27
1303 NTM001 Nutmeg Liver 26
1304 GST005 Gastric Hemangioma 26
1305 ACT256 Actg2 Visceral Myopathy 26
1306 CLC003 Cloacogenic Carcinoma 26
1307 INT358 Intestinal Polyposis Syndrome 26
1308 TTH005 Teeth Hard Tissue Disease 26
1309 c HYP889 Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 26
1310 GLL007 Gallbladder Small Cell Carcinoma 26
1311 c BCT005 Bacterial Gastritis 26
1312 EXT028 Extrahepatic Bile Duct Adenoma 26
1313 HYP049 Hypertrophy of Tongue Papillae 26
1314 EXT027 Extrahepatic Bile Duct Adenocarcinoma 26
1315 ESP016 Esophagus Melanoma 25
1316 MCN005 Mucinous Intrahepatic Cholangiocarcinoma 25
1317 BSD001 Basidiobolomycosis 25
1318 ORL029 Oral Rhabdomyosarcoma 24
1319 SQM004 Squamous Cell Bile Duct Carcinoma 24
1320 c MLG024 Malignant Gastric Teratoma 24
1321 GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 24
1322 GST038 Gastrointestinal Adenoma 24
1323 SPL003 Splenic Flexure Cancer 24
1324 BYL001 Baylisascariasis 24
1325 c VRL006 Viral Esophagitis 24
1326 LVR003 Liver Carcinoma in Situ 24
1327 MDL026 Medullary Colon Carcinoma 23
1328 c SPS230 Spastic Paraplegia Type 49 23
1329 GLL013 Gallbladder Lymphoma 23
1330 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 23
1331 CLN010 Colonic Lymphangioma 23
1332 MYM015 Moyamoya Disease 6 with or Without Achalasia 23
1333 PRT100 Parotid Gland Adenoid Cystic Carcinoma 23
1334 c INF146 Inflammatory Skin and Bowel Disease, Neonatal, 2 23
1335 PNC024 Pancreatic Colloid Cystadenoma 23
1336 MCN009 Mucinous Stomach Adenocarcinoma 23
1337 BLD002 Bile Duct Mucinous Adenocarcinoma 22
1338 ILM001 Ileum Cancer 22
1339 ANL012 Anal Gland Adenocarcinoma 22
1340 GLL004 Gallbladder Papillary Carcinoma 22
1341 INT039 Intrahepatic Biliary Papillomatosis 22
1342 ANG012 Angiodysplasia of Intestine 21
1343 UND009 Undifferentiated Carcinoma of Stomach 21
1344 CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 21
1345 SQM019 Squamous Cell Carcinoma of the Small Intestine 21
1346 c CLR079 Colorectal Cancer 2 21
1347 c BCT001 Bacterial Esophagitis 21
1348 FNG002 Fungal Gastritis 21
1349 GST026 Gastric Fundus Cancer 20
1350 GST046 Gastrointestinal Anthrax 20
1351 c CLR080 Colorectal Cancer 5 20
1352 NRN045 Neuroendocrine Neoplasm of Appendix 20
1353 GST041 Gastric Cardia Carcinoma 20
1354 ESP004 Esophagus Small Cell Carcinoma 20
1355 ESP012 Esophageal Adenoid Cystic Carcinoma 20
1356 c NSP015 Nasopharyngeal Carcinoma 3 20
1357 c CLR083 Colorectal Cancer 8 19
1358 P DSR081 Disorder of Bile Acid Synthesis 19
1359 CLN018 Colon Sarcoma 19
1360 c CNT121 Central Hypoventilation Syndrome, Congenital, 3 19
1361 IDP093 Idiopathic Gastroparesis 19
1362 GMC001 Gum Cancer 19
1363 c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 18
1364 DST001 Distal Biliary Tract Carcinoma 18
1365 CLN007 Colon Kaposi Sarcoma 18
1366 SQM014 Squamous Cell Carcinoma of Pancreas 18
1367 HRS037 Hirschsprung Disease with Type D Brachydactyly 18
1368 SRC004 Sarcomatous Intrahepatic Cholangiocarcinoma 18
1369 P STM003 Stomach Carcinoma in Situ 18
1370 c GST091 Gastrointestinal Neuroendocrine Benign Tumor 18
1371 c NSP009 Nasopharyngeal Carcinoma 2 18
1372 JJN001 Jejunal Somatostatinoma 18
1373 c CLR082 Colorectal Cancer 7 18
1374 c BLR016 Biliary Cirrhosis, Primary, 2 18
1375 c CLR081 Colorectal Cancer 6 17
1376 LVR007 Liver Fibroma 17
1377 ANL007 Anal Margin Squamous Cell Carcinoma 16
1378 P LRG016 Large Intestine Adenocarcinoma 16
1379 c CLR078 Colorectal Cancer 11 16
1380 c CLR084 Colorectal Cancer 9 16
1381 RRT002 Rare Tumor of Pancreas 15
1382 CCM002 Cecum Lymphoma 15
1383 c VRL009 Viral Gastritis 15
1384 INT043 Intestinal Disaccharidase Deficiency 15
1385 RCT033 Rectal Duplication 15
1386 c BLR026 Biliary Cirrhosis, Primary, 5 14
1387 CHR474 Chronic Diarrhea Due to Glucoamylase Deficiency 13
1388 c BLR025 Biliary Cirrhosis, Primary, 4 13
1389 BLD037 Bile Duct Rhabdomyosarcoma 12
1390 SPN082 Spina Bifida Hypospadias 12
1391 NRN043 Neuroendocrine Neoplasm of Esophagus 11
1392 CNG363 Congenital Enterocyte Heparan Sulfate Deficiency 11
1393 DRR012 Diarrhea, Chronic, with Villous Atrophy 11
1394 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 11
1395 GLL051 Gallbladder Benign Neoplasm 11
1396 c PLV014 Pelvic Organ Prolapse 2 10
1397 RCT003 Rectum Malignant Melanoma 10
1398 ANL002 Anal Gland Neoplasm 10
1399 SYN164 Syndromic Congenital Sodium Diarrhea 10
1400 PNC022 Pancreatic Intraductal Papillary-Mucinous Adenoma 9
1401 BLD038 Bile Duct Sarcoma 9
1402 MLG134 Malignant Epithelial Tumor of Salivary Glands 9
1403 AMP002 Ampulla of Vater Small Cell Carcinoma 9
1404 CVR004 Cavernous Hemangioma of Colon 9
1405 PRT022 Protozoal Dysentery 8
1406 RCT006 Rectum Mucinous Adenocarcinoma 8
1407 EXT014 Extrahepatic Bile Duct Cystadenoma 8
1408 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
1409 HRD181 Hereditary Neuroendocrine Tumor of Small Intestine 8
1410 CRC037 Carcinoma of Esophagus, Salivary Gland Type 8
1411 XLN242 X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction 8
1412 c ORL001 Oral Cavity Carcinoma in Situ 8
1413 AMP004 Ampulla of Vater Adenosquamous Carcinoma 8
1414 c LPC001 Lip Carcinoma in Situ 7
1415 HRP003 Herpetic Gastritis 7
1416 SML012 Small Bowel Fibrosarcoma 7
1417 RRP011 Rare Epithelial Tumor of Pancreas 7
1418 CLS051 Classic Neuroendocrine Tumor of Appendix 7
1419 RCT007 Rectal Cloacogenic Carcinoma 7
1420 MLG031 Malignant Granular Cell Esophageal Tumor 7
1421 PYL003 Pyloric Antrum Cancer 7
1422 ANS007 Anus Lymphoma 7
1423 WLD001 Waldeyer's Ring Cancer 6
1424 ANS014 Anus Sarcoma 6
1425 ANL001 Anal Colloid Adenocarcinoma 6
1426 EXT017 Extrahepatic Bile Duct Papillary Adenoma 6
1427 CNG605 Congenital Intestinal Transport Defect 6
1428 VST002 Vestibule of Mouth Cancer 6
1429 RRT012 Rare Tumor of Salivary Glands 6
1430 MLG044 Malignant Gastric Granular Cell Tumor 6
1431 INT285 Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome 6
1432 c RRC018 Rare Carcinoma of Stomach 6
1433 RTR002 Retromolar Area Cancer 5
1434 ISL157 Isolated Mesenteric Vein Thrombosis 5
1435 c NRN049 Neuronal Intestinal Dysplasia Type a 5
1436 TRC090 Trachea Mucoepidermoid Carcinoma 4
1437 CLN001 Colon Signet Ring Adenocarcinoma 4
1438 RRP014 Rare Epithelial Tumor of Small Intestine 4
1439 MSN013 Mesenchymal Tumor of Small Intestine 4
1440 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 4
1441 RRP012 Rare Epithelial Tumor of Colon 4
1442 GLL005 Gallbladder Pleomorphic Giant Cell Adenocarcinoma 3
1443 UNC010 Unclassified Intestinal Pseudoobstruction 3
1444 IMM213 Immune Dysregulation with Inflammatory Bowel Disease 3
1445 c MLG002 Malignant Peritoneal Mesothelioma 44
1446 P PRT096 Peritoneal Mesothelioma 43
1447 c BNG001 Benign Peritoneal Mesothelioma 29
1448 MDS017 Mediastinum Leiomyosarcoma 9
1449 MLR004 Malaria 77
1450 P GST053 Gastric Cancer 83
1451 c CWD006 Cowden Syndrome 1 78
1452 P HRS035 Hirschsprung Disease 1 69
1453 c MLT160 Multiple Endocrine Neoplasia, Type Iia 68
1454 GST040 Gastric Adenocarcinoma 67
1455 DSM004 Desmoid Tumor 67
1456 c HRD002 Hereditary Angioedema 66
1457 PRT036 Peritonitis 64
1458 MGL001 Megaloblastic Anemia 64
1459 VGN017 Vaginal Cancer 63
1460 P BLD062 Bile Duct Cancer 63
1461 ESP025 Esophagus Adenocarcinoma 63
1462 DFF019 Diffuse Gastric Cancer 62
1463 CLN045 Colonic Benign Neoplasm 62
1464 CHY002 Chylomicron Retention Disease 62
1465 c SML009 Small Intestine Adenocarcinoma 61
1466 c FML347 Familial Adenomatous Polyposis 2 60
1467 FRC011 Fructose Intolerance, Hereditary 59
1468 VLV047 Volvulus of Midgut 59
1469 HPT022 Hepatoblastoma 59
1470 c ANG070 Angioedema, Hereditary, 1 59
1471 ESP027 Esophagus Squamous Cell Carcinoma 58
1472 BLR001 Biliary Atresia 58
1473 ESN005 Eosinophilic Gastroenteritis 57
1474 BRN009 Burning Mouth Syndrome 56
1475 ORL005 Oral Candidiasis 55
1476 P SML016 Small Intestine Cancer 55
1477 P ANG015 Angioedema 55
1478 P HMR005 Hemorrhoid 54
1479 P GLL020 Gallbladder Disease 54
1480 ISL001 Islet Cell Tumor 54
1481 KLT001 Klatskin's Tumor 53
1482 c ADL096 Adult Hepatocellular Carcinoma 53
1483 CRL004 Caroli Disease 53
1484 PRT129 Prothrombin Deficiency, Congenital 53
1485 BLR013 Biliary Tract Cancer 52
1486 c LYM145 Lymphatic Malformation 5 52
1487 PLM014 Pleomorphic Adenoma 52
1488 NNL006 Non-Alcoholic Steatohepatitis 51
1489 HPT014 Hepatorenal Syndrome 50
1490 ANK020 Ankyloglossia with or Without Tooth Anomalies 50
1491 DDN010 Duodenum Cancer 50
1492 SLD003 Sialadenitis 49
1493 APP009 Appendix Adenocarcinoma 49
1494 PLS025 Plasmablastic Lymphoma 48
1495 c LYM144 Lymphatic Malformation 1 48
1496 GST012 Gastroesophageal Junction Adenocarcinoma 47
1497 GLC022 Glucose/galactose Malabsorption 47
1498 INT253 Intestinal Benign Neoplasm 47
1499 c ANG071 Angioedema, Hereditary, 3 47
1500 TRC012 Trichuriasis 46
1501 AND001 Anodontia 46
1502 FSC002 Fascioliasis 46
1503 P PHR004 Pharynx Cancer 46
1504 TNG009 Tongue Squamous Cell Carcinoma 45
1505 ECT093 Ectopic Cushing Syndrome 45
1506 DLY010 Dialysis-Related Amyloidosis 44
1507 TRP008 Tropical Calcific Pancreatitis 44
1508 CHR515 Chronic Atrial and Intestinal Dysrhythmia 44
1509 ANG002 Angiostrongyliasis 43
1510 INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 43
1511 IMM071 Immunodeficiency 12 43
1512 P ATT003 Attenuated Familial Adenomatous Polyposis 43
1513 CLR109 Colorectal Adenocarcinoma 42
1514 BLR027 Blue Rubber Bleb Nevus 42
1515 c LYM161 Lymphatic Malformation 12 42
1516 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 42
1517 TNG004 Tongue Disease 41
1518 OPS001 Opisthorchiasis 41
1519 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 41
1520 LKP003 Leukoplakia 41
1521 LYM042 Lymphocytic Colitis 41
1522 c ACQ012 Acquired Angioedema 40
1523 ANL011 Anal Canal Carcinoma 40
1524 MHV001 Mahvash Disease 38
1525 CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38
1526 SPR007 Superior Mesenteric Artery Syndrome 37
1527 PRT009 Parotid Gland Cancer 37
1528 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 37
1529 P NRL038 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 36
1530 P HPT020 Hepatic Vascular Disease 36
1531 c PRM158 Primary Intestinal Lymphangiectasia 36
1532 HMN004 Hemangioma of Liver 35
1533 PST046 Post-Transplant Lymphoproliferative Disease 35
1534 MLT073 Multisystemic Smooth Muscle Dysfunction Syndrome 35
1535 FSS001 Fissured Tongue 35
1536 BLD033 Bile Duct Adenoma 34
1537 c LYM150 Lymphatic Malformation 7 34
1538 P LYM124 Lymphangiectasia, Intestinal 34
1539 c RNG029 Ring Chromosome 14 Syndrome 34
1540 c LYM149 Lymphatic Malformation 6 34
1541 SML008 Small Intestine Lymphoma 33
1542 MLK004 Malakoplakia 33
1543 c LRG017 Large Intestine Cancer 33
1544 SML015 Small Intestinal Sarcoma 33
1545 c RNG008 Ring Chromosome 13 33
1546 RCT023 Rectum Squamous Cell Carcinoma 33
1547 c RNG023 Ring Chromosome 7 33
1548 ADN015 Adenoid Basal Cell Carcinoma 32
1549 MMM007 Mammary Analogue Secretory Carcinoma 32
1550 c RNG018 Ring Chromosome 22 32
1551 ATR073 Atrophic Glossitis 32
1552 P RRL003 Rare Lymphatic Malformation 31
1553 c RNG017 Ring Chromosome 21 31
1554 c RNG004 Ring Chromosome 1 30
1555 GST029 Gastric Cardia Adenocarcinoma 30
1556 DDN002 Duodenal Gastrinoma 30
1557 DLF001 Dieulafoy Lesion 29
1558 c FML339 Familial Adenomatous Polyposis 4 29
1559 c RNG022 Ring Chromosome 6 29
1560 c RNG007 Ring Chromosome 12 29
1561 PNC018 Pancreatic Serous Cystadenoma 29
1562 GLL012 Gallbladder Melanoma 29
1563 c RNG020 Ring Chromosome 4 28
1564 BLR031 Biliary Tract Benign Neoplasm 28
1565 c RNG024 Ring Chromosome 8 28
1566 CLN002 Colon Mucinous Adenocarcinoma 28
1567 c RNG005 Ring Chromosome 10 28
1568 c NRL039 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 28
1569 ATN027 Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 28
1570 PNC014 Pancreatic Serous Cystadenocarcinoma 27
1571 LVR031 Liver Benign Neoplasm 27
1572 GST025 Gastric Body Carcinoma 27
1573 P RNG032 Ring Chromosome 27
1574 c GLL027 Gallbladder Disease 4 26
1575 c RNG013 Ring Chromosome 18 26
1576 GLL015 Gallbladder Squamous Cell Carcinoma 26
1577 BNG099 Benign Ileal Neoplasm 25
1578 CLN004 Colon Carcinoma in Situ 25
1579 BLD005 Bile Duct Mucoepidermoid Carcinoma 25
1580 c RNG010 Ring Chromosome 15 25
1581 c RNG016 Ring Chromosome 20 25
1582 GST015 Gastric Small Cell Carcinoma 24
1583 SVR055 Severe Immune-Mediated Enteropathy 24
1584 SBL001 Sublingual Gland Cancer 24
1585 c LYM147 Lymphatic Malformation 3 24
1586 c RNG006 Ring Chromosome 11 24
1587 c LYM148 Lymphatic Malformation 4 24
1588 NRN033 Neuroendocrine Tumor of the Colon 24
1589 c RNG015 Ring Chromosome 2 23
1590 GST048 Gastrointestinal System Benign Neoplasm 23
1591 GST008 Gastric Adenosquamous Carcinoma 23
1592 c RNG019 Ring Chromosome 3 23
1593 c ANG072 Angioedema, Hereditary, 4 23
1594 c RNG025 Ring Chromosome 9 22
1595 c RNG021 Ring Chromosome 5 22
1596 GST031 Gastric Gastrinoma 22
1597 SLV032 Salivary Gland Mucinous Adenocarcinoma 22
1598 c RNG012 Ring Chromosome 17 22
1599 EPS023 Epstein-Barr Virus-Associated Gastric Carcinoma 22
1600 PYL007 Pylorus Cancer 22
1601 SBL007 Sublingual Gland Adenoid Cystic Carcinoma 22
1602 MLG066 Malignant Gastric Germ Cell Tumor 21
1603 GST017 Gastric Tubular Adenocarcinoma 21
1604 c LYM155 Lymphatic Malformation 8 21
1605 c LYM159 Lymphatic Malformation 10 21
1606 HRD005 Hard Palate Cancer 21
1607 JJN009 Jejunal Neuroendocrine Tumor 20
1608 c ANG073 Angioedema, Hereditary, 5 20
1609 NNF009 Non-Functioning Neuroendocrine Tumor of Pancreas 20
1610 c ANG074 Angioedema, Hereditary, 6 20
1611 UND013 Undifferentiated Carcinoma with Osteoclast-Like Giant Cells of Pancreas 20
1612 ADN003 Adenosquamous Bile Duct Carcinoma 20
1613 CNG480 Congenital Diarrhea 7 with Exudative Enteropathy 20
1614 LWR001 Lower Lip Cancer 20
1615 MCN018 Mucinous Adenocarcinoma of the Appendix 20
1616 c SCN043 Secondary Intestinal Lymphangiectasia 19
1617 c RNG011 Ring Chromosome 16 19
1618 LRN007 Laron Syndrome with Immunodeficiency 19
1619 c RNG014 Ring Chromosome 19 19
1620 c LYM158 Lymphatic Malformation 9 19
1621 c ANG076 Angioedema, Hereditary, 8 19
1622 APL026 Aplasia Cutis Congenita with Intestinal Lymphangiectasia 19
1623 GRF006 Grfoma 19
1624 GST032 Gastric Papillary Adenocarcinoma 18
1625 c INT019 Intestine Carcinoma in Situ 18
1626 c RNG031 Ring Chromosome Y Syndrome 18
1627 BLD007 Bile Duct Signet Ring Cell Carcinoma 18
1628 FNC065 Functioning Neuroendocrine Tumor of Pancreas 18
1629 c ANG075 Angioedema, Hereditary, 7 17
1630 GST087 Gastric Linitis Plastica 17
1631 c LYM160 Lymphatic Malformation 11 17
1632 c HRD215 Hereditary Gastric Cancer 16
1633 INT381 Intraductal Tubulopapillary Neoplasm of Pancreas 16
1634 c LYM146 Lymphatic Malformation 2 16
1635 c ACQ036 Acquired Angioedema Type 2 14
1636 PHR008 Pharynx Squamous Cell Carcinoma 14
1637 ISL156 Isolated Splenic Vein Thrombosis 14
1638 SML035 Small Intestine Carcinoid Neuroendocrine Tumor 12
1639 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
1640 EXT015 Extrahepatic Biliary Papillomatosis 12
1641 c GLL025 Gallbladder Disease 2 12
1642 c GLL026 Gallbladder Disease 3 12
1643 c BLD001 Bile Duct Carcinoma in Situ 11
1644 BRN115 Bronchus Mucoepidermoid Carcinoma 10
1645 MXD054 Mixed Neuroendocrine and Non-Neuroendocrine Neoplasm of Pancreas 10
1646 BLD006 Bile Duct Clear Cell Adenocarcinoma 9
1647 BLR003 Biliary Tract Intraductal Papillary Mucinous Neoplasm 9
1648 HPT017 Hepatic Osteogenic Sarcoma 9
1649 FLL045 Follicular Cholangitis and Pancreatitis 9
1650 INT037 Intrahepatic Bile Duct Cystadenoma 9
1651 c RRV010 Rare Vascular Liver Disease 9
1652 PRP089 Prp Systemic Amyloidosis 8
1653 RRC013 Rare Carcinoma of Pancreas 8
1654 c ACQ035 Acquired Angioedema Type 1 8
1655 RRP030 Rare Pancreatic Disease 8
1656 PRP094 Propylthiouracil Embryofetopathy 6
1657 SBM001 Submucosal Invasive Colon Adenocarcinoma 6
1658 c PHR001 Pharynx Carcinoma in Situ 6
1659 SML007 Small Intestinal Vasoactive Intestinal Peptide Producing Tumor 6
1660 c RRC019 Rare Carcinoma of Small Intestine 6
1661 INT252 Intestinal Neuroendocrine Benign Tumor 6
1662 GST022 Gastric Pylorus Carcinoma 5
1663 P RRT023 Rare Tumor of Intestine 5
1664 RRP018 Rare Epithelial Tumor of Stomach 5
1665 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 5
1666 c RRT017 Rare Tumor of Small Intestine 4
1667 RRG003 Rare Gastroesophageal Tumor 4
1668 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
1669 RRG075 Rare Gastroesophageal Disease 4
1670 RRD065 Rare Disease Involving Intestinal Motility 3
1671 MTB018 Metabolic Disease with Intestinal Involvement 3
1672 INH029 Inherited Digestive Cancer-Predisposing Syndrome 3
1673 PRT002 Paratyphoid Fever 54
1674 ABD004 Abdominal Tuberculosis 41
1675 PHH001 Phaeohyphomycosis 40
1676 TBR008 Tuberculous Peritonitis 35
1677 STP002 Staphyloenterotoxemia 31
1678 FNC009 Fanconi-Bickel Syndrome 53
1679 P HPT023 Hepatocellular Carcinoma 96
1680 PTZ001 Peutz-Jeghers Syndrome 69
1681 THY111 Thyroid Carcinoma, Familial Medullary 69
1682 ABT001 Abetalipoproteinemia 69
1683 P JVN014 Juvenile Polyposis Syndrome 68
1684 P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 67
1685 MRT001 Muir-Torre Syndrome 65
1686 CYS013 Cystinuria 65
1687 PRP083 Porphyria, Acute Intermittent 64
1688 BDD001 Budd-Chiari Syndrome 64
1689 PLY023 Polycystic Liver Disease 62
1690 CLR108 Colorectal Adenoma 59
1691 HPT019 Hepatic Encephalopathy 59
1692 GST009 Gastroschisis 58
1693 ACH005 Achalasia 57
1694 CRC006 Carcinoid Syndrome 57
1695 IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 56
1696 P STS003 Sitosterolemia 56
1697 c LYM114 Lymphoproliferative Syndrome, X-Linked, 2 54
1698 CHL128 Childhood Hepatocellular Carcinoma 53
1699 ZLL002 Zollinger-Ellison Syndrome 53
1700 DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 53
1701 STR008 Strongyloidiasis 52
1702 MCP006 Mucoepidermoid Carcinoma 52
1703 SCR037 Sucrase-Isomaltase Deficiency, Congenital 52
1704 PRT018 Portal Vein Thrombosis 52
1705 EPT010 Epithelial-Myoepithelial Carcinoma 51
1706 FLT009 Folate Malabsorption, Hereditary 51
1707 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 50
1708 RTR011 Retroperitoneal Fibrosis 48
1709 c STS010 Sitosterolemia 1 48
1710 IMM179 Immunodeficiency 31c 46
1711 HPT082 Hepatic Adenomas, Familial 43
1712 GGR001 Geographic Tongue 42
1713 PST036 Posterior Column Ataxia with Retinitis Pigmentosa 38
1714 SSS001 Sessile Serrated Polyposis Cancer Syndrome 37
1715 GST086 Gastric Adenocarcinoma and Proximal Polyposis of the Stomach 37
1716 P GST047 Gastrointestinal Neuroendocrine Tumor 36
1717 GST014 Gastrointestinal Lymphoma 35
1718 CNG064 Congenital Chloride Diarrhea 34
1719 ENT006 Enterokinase Deficiency 34
1720 HPT005 Hepatic Flexure Cancer 33
1721 PNC048 Pancreatic Lipase Deficiency 31
1722 STY001 Satoyoshi Syndrome 31
1723 IMM075 Immunodeficiency 22 29
1724 CLN005 Colon Lymphoma 29
1725 P ATM094 Autoimmune Disease, Multisystem, Infantile-Onset, 1 28
1726 APP002 Appendix Lymphoma 28
1727 CLN009 Colon Squamous Cell Carcinoma 28
1728 c STS011 Sitosterolemia 2 27
1729 NRN044 Neuroendocrine Carcinoma of Pancreas 26
1730 SBM004 Submandibular Gland Cancer 24
1731 IMM079 Immunodeficiency, Common Variable, 11 24
1732 BLD065 Blue Diaper Syndrome 24
1733 c MSM024 Mismatch Repair Cancer Syndrome 3 23
1734 c MSM023 Mismatch Repair Cancer Syndrome 2 22
1735 c ATM093 Autoimmune Disease, Multisystem, Infantile-Onset, 2 21
1736 LCR002 Lacrimal Gland Mucoepidermoid Carcinoma 21
1737 ESP015 Esophagus Lymphoma 20
1738 SNT001 Santos Mateus Leal Syndrome 20
1739 CLN008 Colon Small Cell Carcinoma 20
1740 GST056 Gastrocutaneous Syndrome 18
1741 ANL016 Anal Margin Carcinoma 18
1742 THY010 Thymus Mucoepidermoid Carcinoma 14
1743 FML335 Familial Gastric Type 1 Neuroendocrine Tumor 7
1744 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
1745 ANS003 Anisakiasis 39
1746 CYS001 Cystic Fibrosis 78
1747 P FML011 Familial Adenomatous Polyposis 73
1748 DFF043 Diffuse Gastric and Lobular Breast Cancer Syndrome 68
1749 c TYR012 Tyrosinemia, Type I 67
1750 P CHR012 Chronic Granulomatous Disease 67
1751 ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 66
1752 MCK005 Mckusick-Kaufman Syndrome 60
1753 INS001 Insulinoma 59
1754 NNL005 Non-Alcoholic Fatty Liver Disease 58
1755 P TYR004 Tyrosinemia 58
1756 ORL004 Oral Submucous Fibrosis 56
1757 OST022 Osteopathia Striata with Cranial Sclerosis 55
1758 IRN008 Iron Overload in Africa 54
1759 TNG007 Tongue Carcinoma 54
1760 PRS127 Pearson Marrow-Pancreas Syndrome 53
1761 SMT003 Somatostatinoma 53
1762 c TYR013 Tyrosinemia, Type Ii 53
1763 VPM001 Vipoma 52
1764 P SLV026 Salivary Gland Carcinoma 50
1765 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 49
1766 ORL015 Oral Squamous Cell Carcinoma 49
1767 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 48
1768 TXC011 Toxocariasis 48
1769 TYL002 Tylosis with Esophageal Cancer 46
1770 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 46
1771 c TYR011 Tyrosinemia, Type Iii 46
1772 LCT013 Lactase Deficiency, Congenital 45
1773 GST004 Gastric Neuroendocrine Neoplasm 44
1774 PNC019 Pancreatoblastoma 42
1775 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 42
1776 ATN011 Autoinflammation with Infantile Enterocolitis 40
1777 SLV025 Salivary Gland Adenoma, Pleomorphic 39
1778 PRG008 Paragonimiasis 36
1779 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 35
1780 LVR006 Liver Lymphoma 28
1781 ILL008 Ileal Neuroendocrine Tumor 27
1782 PRM288 Permanent Molars, Secondary Retention of 26
1783 SML004 Small Intestine Neuroendocrine Neoplasm 24
1784 EXC004 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 24
1785 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
1786 NRN047 Neuroendocrine Neoplasm of Pancreas 22
1787 LRY003 Laryngeal Mucoepidermoid Carcinoma 20
1788 CLN014 Colon Neuroendocrine Neoplasm 20
1789 SRT005 Serotonin-Producing Neuroendocrine Tumor of Pancreas 10
1790 c SLV006 Salivary Gland Cancer, Adult 3
1791 c DPH024 Diaphragmatic Hernia, Congenital 66
1792 ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 56
1793 CYS008 Cystic Echinococcosis 53
1794 GLD006 Goldberg-Shprintzen Syndrome 50
1795 ARB005 Arboleda-Tham Syndrome 47
1796 GST027 Gastric Lymphoma 43
1797 PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 42
1798 LVR002 Liver Angiosarcoma 38
1799 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 35
1800 c DPH016 Diaphragmatic Hernia 3 24
1801 LBN005 Lubani-Al Saleh-Teebi Syndrome 22
1802 c DPH025 Diaphragmatic Hernia 2 18
1803 P HRN027 Hernia, Anterior Diaphragmatic 9
1804 P PNC035 Pancreatic Cancer 91
1805 APL002 Aplasia of Lacrimal and Salivary Glands 59
1806 IMM246 Immunoglobulin Light Chain Amyloidosis 57
1807 MCR094 Microvillus Inclusion Disease 54
1808 CHR667 Chromosome 3pter-P25 Deletion Syndrome 44
1809 ANC002 Anca-Associated Vasculitis 36
1810 IMM257 Immunodeficiency 7 36
1811 ENT008 Enteropathy-Associated T-Cell Lymphoma 34
1812 c PNC094 Pancreatic Cancer 1 27
1813 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 26
1814 c PNC111 Pancreatic Cancer 2 25
1815 c PNC103 Pancreatic Cancer 4 25
1816 c PNC132 Pancreatic Cancer 5 24
1817 c PNC095 Pancreatic Cancer 3 22
1818 c MLT156 Multiple Endocrine Neoplasia, Type I 72
1819 P MLT074 Multiple Endocrine Neoplasia 57
1820 c MLT086 Multiple Endocrine Neoplasia, Type Iv 53
1821 IMM219 Immunodeficiency 57 with Autoinflammation 36



Content
Loading form....