# |
Family |
MCID |
Name |
MIFTS |
1 |
|
IMM106 |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked |
43 |
2 |
|
GST053 |
Gastric Cancer |
84 |
3 |
|
VSC044 |
Visceral Myopathy |
52 |
4 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
57 |
5 |
|
GST023 |
Gastric Ulcer |
57 |
6 |
|
DRR003 |
Diarrhea 5, with Tufting Enteropathy, Congenital |
35 |
7 |
|
GST019 |
Gastrointestinal Stromal Tumor |
74 |
8 |
|
GST013 |
Gastrojejunal Ulcer |
27 |
9 |
|
ATR015 |
Atresia of Small Intestine |
11 |
10 |
|
JVN014 |
Juvenile Polyposis Syndrome |
60 |
11 |
|
GST095 |
Gastritis, Familial Giant Hypertrophic |
28 |
12 |
|
PTZ001 |
Peutz-Jeghers Syndrome |
70 |
13 |
P
|
SML016 |
Small Intestine Cancer |
52 |
14 |
|
PRG017 |
Paraganglioma and Gastric Stromal Sarcoma |
40 |
15 |
|
GST093 |
Gastrointestinal Defects and Immunodeficiency Syndrome |
40 |
16 |
|
ESN014 |
Eosinophilic Enteropathy |
24 |
17 |
|
PRN019 |
Perinatal Necrotizing Enterocolitis |
56 |
18 |
|
GST092 |
Gastroesophageal Reflux |
64 |
19 |
|
STM006 |
Stomach Disease |
52 |
20 |
|
CHR515 |
Chronic Atrial and Intestinal Dysrhythmia |
26 |
21 |
|
AGN004 |
Aganglionosis, Total Intestinal |
23 |
22 |
P
|
CLC063 |
Celiac Disease 1 |
65 |
23 |
c
|
PRM158 |
Primary Intestinal Lymphangiectasia |
32 |
24 |
|
GST026 |
Gastric Fundus Cancer |
14 |
25 |
P
|
GST044 |
Gastritis |
61 |
26 |
|
ESN005 |
Eosinophilic Gastroenteritis |
56 |
27 |
|
CLN045 |
Colonic Benign Neoplasm |
44 |
28 |
P
|
HRS035 |
Hirschsprung Disease 1 |
64 |
29 |
|
GST020 |
Gastric Antral Vascular Ectasia |
37 |
30 |
c
|
HRS036 |
Hirschsprung Disease 2 |
27 |
31 |
c
|
HRS027 |
Hirschsprung Disease 5 |
17 |
32 |
c
|
HRS034 |
Hirschsprung Disease 3 |
17 |
33 |
|
UMB001 |
Umbilical Cord Ulceration and Intestinal Atresia |
17 |
34 |
c
|
HRS029 |
Hirschsprung Disease 4 |
15 |
35 |
c
|
HRS024 |
Hirschsprung Disease 9 |
14 |
36 |
c
|
HRS025 |
Hirschsprung Disease 8 |
14 |
37 |
c
|
HRS026 |
Hirschsprung Disease 7 |
14 |
38 |
c
|
HRS028 |
Hirschsprung Disease 6 |
14 |
39 |
|
GST045 |
Gastroenteritis |
65 |
40 |
|
CHR280 |
Chronic Erosive Gastritis |
15 |
41 |
P
|
FML321 |
Familial Stomach Cancer |
8 |
42 |
|
GST050 |
Gastrointestinal System Disease |
66 |
43 |
|
GST051 |
Gastrointestinal Tuberculosis |
28 |
44 |
|
APL026 |
Aplasia Cutis Congenita with Intestinal Lymphangiectasia |
22 |
45 |
|
PRT019 |
Protein-Losing Enteropathy |
40 |
46 |
|
LYM047 |
Lymphoma, Gastric Non Hodgkins Type |
4 |
47 |
|
INT253 |
Intestinal Benign Neoplasm |
42 |
48 |
|
GST071 |
Gastrointestinal Carcinoma |
40 |
49 |
|
PLY131 |
Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes |
51 |
50 |
|
GST030 |
Gastrinoma |
44 |
51 |
|
ATN011 |
Autoinflammation with Infantile Enterocolitis |
39 |
52 |
|
ENT006 |
Enterokinase Deficiency |
24 |
53 |
P
|
INT006 |
Intestinal Botulism |
23 |
54 |
|
GST037 |
Gastroparesis |
56 |
55 |
P
|
ATR005 |
Atrophic Gastritis |
51 |
56 |
|
DSC005 |
Descending Colon Cancer |
31 |
57 |
|
ASC004 |
Ascending Colon Cancer |
29 |
58 |
|
DDN002 |
Duodenal Gastrinoma |
29 |
59 |
c
|
ADL069 |
Adult Intestinal Botulism |
15 |
60 |
|
CRN283 |
Cornea Guttata with Anterior Polar Cataracts |
13 |
61 |
|
CLN019 |
Colonic Disease |
55 |
62 |
|
VPM001 |
Vipoma |
52 |
63 |
|
DVR001 |
Diverticulitis of Colon |
34 |
64 |
|
ADN006 |
Adenosquamous Colon Carcinoma |
32 |
65 |
|
CHR557 |
Chronic Intestinal Pseudoobstruction |
32 |
66 |
|
ATM077 |
Autoimmune Gastrointestinal Dysmotility |
11 |
67 |
P
|
CTS001 |
Cutis Laxa |
62 |
68 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
37 |
69 |
|
ACT060 |
Acute Vascular Insufficiency of Intestine |
37 |
70 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
36 |
71 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
36 |
72 |
|
TRN003 |
Transverse Colon Cancer |
35 |
73 |
|
CLN004 |
Colon Carcinoma in Situ |
35 |
74 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
32 |
75 |
c
|
CTS034 |
Cutis Laxa, Autosomal Recessive Type 1 |
32 |
76 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
30 |
77 |
c
|
ACQ027 |
Acquired Cutis Laxa |
29 |
78 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
28 |
79 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
25 |
80 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
81 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
25 |
82 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
25 |
83 |
|
NRN033 |
Neuroendocrine Tumor of the Colon |
21 |
84 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
20 |
85 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
19 |
86 |
|
GST057 |
Gastro-Enteropancreatic Neuroendocrine Tumor |
15 |
87 |
|
NTL002 |
Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus |
4 |
88 |
P
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
55 |
89 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
53 |
90 |
|
ENT003 |
Enterobiasis |
51 |
91 |
c
|
CNG412 |
Congenital Disorder of Glycosylation, Type Ii |
47 |
92 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
42 |
93 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
40 |
94 |
|
INT046 |
Intestinal Tuberculosis |
37 |
95 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
36 |
96 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
35 |
97 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
35 |
98 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
34 |
99 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
33 |
100 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
32 |
101 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
31 |
102 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
30 |
103 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
30 |
104 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
30 |
105 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
30 |
106 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
29 |
107 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
29 |
108 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
29 |
109 |
c
|
CNG207 |
Congenital Disorder of Glycosylation, Type Io |
29 |
110 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
28 |
111 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
28 |
112 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
28 |
113 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
28 |
114 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
27 |
115 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
27 |
116 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
26 |
117 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
26 |
118 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
26 |
119 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
25 |
120 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
25 |
121 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
25 |
122 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
25 |
123 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
25 |
124 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
24 |
125 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
24 |
126 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
24 |
127 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
23 |
128 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
129 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
23 |
130 |
|
INF006 |
Infant Botulism |
52 |
131 |
|
CRY003 |
Cryptosporidiosis |
51 |
132 |
|
ANG011 |
Angiodysplasia |
48 |
133 |
|
INT052 |
Intestinal Volvulus |
38 |
134 |
|
ENT001 |
Enterocele |
36 |
135 |
|
KPR002 |
Kapur-Toriello Syndrome |
26 |
136 |
c
|
CLC048 |
Celiac Disease 3 |
16 |
137 |
c
|
CLC037 |
Celiac Disease 4 |
16 |
138 |
c
|
CLC039 |
Celiac Disease 13 |
15 |
139 |
|
CNG480 |
Congenital Diarrhea 7 with Exudative Enteropathy |
7 |
140 |
|
INT051 |
Intussusception |
51 |
141 |
|
MCR011 |
Microinvasive Gastric Cancer |
45 |
142 |
|
SML008 |
Small Intestine Lymphoma |
45 |
143 |
|
CLN005 |
Colon Lymphoma |
29 |
144 |
|
CLN009 |
Colon Squamous Cell Carcinoma |
20 |
145 |
|
SML004 |
Small Intestine Neuroendocrine Neoplasm |
19 |
146 |
|
LPM002 |
Lipoma of Colon |
19 |
147 |
|
ENT016 |
Enterovesical Fistula |
18 |
148 |
c
|
STM003 |
Stomach Carcinoma in Situ |
17 |
149 |
|
GST087 |
Gastric Linitis Plastica |
15 |
150 |
|
ALC012 |
Alcoholic Gastritis |
14 |
151 |
|
GST031 |
Gastric Gastrinoma |
14 |
152 |
|
CLN008 |
Colon Small Cell Carcinoma |
13 |
153 |
|
GST086 |
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach |
12 |
154 |
|
GST025 |
Gastric Body Carcinoma |
11 |
155 |
c
|
MLG024 |
Malignant Gastric Teratoma |
11 |
156 |
|
CLN010 |
Colonic Lymphangioma |
10 |
157 |
|
MST008 |
Mastocytic Enterocolitis |
10 |
158 |
|
CVR004 |
Cavernous Hemangioma of Colon |
7 |
159 |
|
LBN005 |
Lubani-Al Saleh-Teebi Syndrome |
7 |
160 |
|
SML007 |
Small Intestinal Vasoactive Intestinal Peptide Producing Tumor |
7 |
161 |
P
|
INT068 |
Intestinal Disease |
65 |
162 |
|
IRR002 |
Irritable Bowel Syndrome |
63 |
163 |
|
MCN017 |
Meconium Ileus |
52 |
164 |
P
|
SHR001 |
Short Bowel Syndrome |
52 |
165 |
|
PPT001 |
Peptic Esophagitis |
40 |
166 |
|
ABD010 |
Abdominal Wall Defect |
37 |
167 |
|
CLN006 |
Colonic Pseudo-Obstruction |
36 |
168 |
|
GTT002 |
Guttate Psoriasis |
35 |
169 |
c
|
ATM060 |
Autoimmune Atrophic Gastritis |
25 |
170 |
|
CLL026 |
Collagenous Gastritis |
14 |
171 |
c
|
CLC045 |
Celiac Disease 2 |
14 |
172 |
c
|
CLC040 |
Celiac Disease 6 |
13 |
173 |
c
|
CLC046 |
Celiac Disease 5 |
13 |
174 |
c
|
CLC047 |
Celiac Disease 8 |
13 |
175 |
c
|
CLC044 |
Celiac Disease 12 |
13 |
176 |
c
|
CLC043 |
Celiac Disease 11 |
13 |
177 |
c
|
CLC042 |
Celiac Disease 9 |
13 |
178 |
c
|
CLC041 |
Celiac Disease 7 |
13 |
179 |
c
|
CLC038 |
Celiac Disease 10 |
13 |
180 |
c
|
SCN046 |
Secondary Short Bowel Syndrome |
5 |
181 |
P
|
INT070 |
Intestinal Obstruction |
55 |
182 |
|
CLN044 |
Colon Adenoma |
45 |
183 |
c
|
CNG413 |
Congenital Short Bowel Syndrome |
39 |
184 |
P
|
ATM020 |
Autoimmune Enteropathy |
39 |
185 |
|
SML014 |
Small Intestine Leiomyosarcoma |
38 |
186 |
|
SML015 |
Small Intestinal Sarcoma |
30 |
187 |
|
CNG016 |
Congenital Intrinsic Factor Deficiency |
27 |
188 |
|
CLN022 |
Colonic Atresia |
27 |
189 |
|
GST056 |
Gastrocutaneous Syndrome |
17 |
190 |
|
LRG015 |
Large Intestine Adenoma |
16 |
191 |
|
GST018 |
Gastrointestinal Tularemia |
12 |
192 |
|
CLN012 |
Colon Leiomyosarcoma |
12 |
193 |
|
CLN018 |
Colon Sarcoma |
10 |
194 |
|
CLN007 |
Colon Kaposi Sarcoma |
9 |
195 |
|
SML012 |
Small Bowel Fibrosarcoma |
8 |
196 |
|
MCS002 |
Mucositis |
61 |
197 |
P
|
DRR001 |
Diarrhea |
60 |
198 |
|
SHG001 |
Shigellosis |
57 |
199 |
|
MGC001 |
Megacolon |
50 |
200 |
|
ESN004 |
Eosinophilic Gastritis |
44 |
201 |
|
INT071 |
Intestinal Perforation |
44 |
202 |
|
EPS023 |
Epstein-Barr Virus-Associated Gastric Carcinoma |
42 |
203 |
c
|
ACT004 |
Acute Diarrhea |
41 |
204 |
|
PLY073 |
Polyposis, Gastric |
39 |
205 |
|
GST028 |
Gastric Squamous Cell Carcinoma |
37 |
206 |
|
GST006 |
Gastric Leiomyoma |
32 |
207 |
|
GST007 |
Gastric Dilatation |
32 |
208 |
|
GST036 |
Gastric Leiomyosarcoma |
31 |
209 |
|
HYP572 |
Hypoganglionosis |
31 |
210 |
|
GST008 |
Gastric Adenosquamous Carcinoma |
30 |
211 |
|
GST015 |
Gastric Small Cell Carcinoma |
30 |
212 |
|
GST041 |
Gastric Cardia Carcinoma |
26 |
213 |
|
GST004 |
Gastric Neuroendocrine Neoplasm |
25 |
214 |
|
VLV047 |
Volvulus of Midgut |
24 |
215 |
|
FNC005 |
Functional Colonic Disease |
24 |
216 |
c
|
INF002 |
Inflammatory Diarrhea |
23 |
217 |
c
|
CNG478 |
Congenital Diarrhea |
23 |
218 |
|
CYS040 |
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation |
21 |
219 |
c
|
DRR009 |
Diarrhea 6 |
21 |
220 |
|
CLF042 |
Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease |
20 |
221 |
c
|
DRR007 |
Diarrhea 7 |
19 |
222 |
|
DNT004 |
Dientamoebiasis |
17 |
223 |
|
UND009 |
Undifferentiated Carcinoma of Stomach |
16 |
224 |
P
|
GST043 |
Gastric Teratoma |
16 |
225 |
|
INT302 |
Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth |
14 |
226 |
|
CNG508 |
Congenital Corneal Opacities, Cornea Guttata, and Corectopia |
13 |
227 |
|
CSC001 |
Cascade Stomach |
12 |
228 |
|
LRG007 |
Large Intestine Lipoma |
12 |
229 |
c
|
CHR465 |
Chronic Diarrhea Due to Guanylate Cyclase 2c Overactivity |
11 |
230 |
|
CLN014 |
Colon Neuroendocrine Neoplasm |
11 |
231 |
|
SML006 |
Small Intestine Leiomyoma |
10 |
232 |
|
GST011 |
Gastric Liposarcoma |
10 |
233 |
|
GST005 |
Gastric Hemangioma |
10 |
234 |
|
MTR006 |
Mature Gastric Teratoma |
9 |
235 |
|
CRC038 |
Carcinoma of Stomach, Salivary Gland Type |
8 |
236 |
|
SML005 |
Small Intestine Diverticulitis |
8 |
237 |
|
GST101 |
Gastric Sneezing |
8 |
238 |
|
CLN011 |
Colon Leiomyoma |
7 |
239 |
|
GST003 |
Gastrin Secretion Abnormality |
7 |
240 |
|
PLY151 |
Polyposis, Intestinal, Scattered and Discrete |
7 |
241 |
|
PDT044 |
Pediatric Collagenous Gastritis |
7 |
242 |
|
MLG066 |
Malignant Gastric Germ Cell Tumor |
6 |
243 |
|
GST022 |
Gastric Pylorus Carcinoma |
6 |
244 |
|
INT252 |
Intestinal Neuroendocrine Benign Tumor |
5 |
245 |
|
MLG044 |
Malignant Gastric Granular Cell Tumor |
5 |
246 |
|
CNG260 |
Congenital Enterovirus Infection |
5 |
247 |
|
STM002 |
Stomach Diverticulosis |
5 |
248 |
|
NNH007 |
Non-Hypoproteinemic Hypertrophic Gastropathy |
5 |
249 |
|
SML024 |
Small Intestine Cancer, Childhood |
3 |
250 |
|
FTL017 |
Fetal Enterovirus Syndrome |
3 |
251 |
|
INT017 |
Intestinal Schistosomiasis |
47 |
252 |
|
DRR005 |
Diarrhea 4, Malabsorptive, Congenital |
37 |
253 |
|
INT314 |
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold |
17 |
254 |
c
|
BCT005 |
Bacterial Gastritis |
13 |
255 |
c
|
VRL009 |
Viral Gastritis |
9 |
256 |
|
HRP003 |
Herpetic Gastritis |
7 |
257 |
|
FNG002 |
Fungal Gastritis |
5 |
258 |
|
CLR108 |
Colorectal Adenoma |
60 |
259 |
|
CCC002 |
Coccidiosis |
52 |
260 |
|
CLS016 |
Clostridium Difficile Colitis |
49 |
261 |
|
LNT001 |
Linitis Plastica |
36 |
262 |
|
GST078 |
Gastrointestinal Allergy |
35 |
263 |
c
|
GST048 |
Gastrointestinal System Benign Neoplasm |
31 |
264 |
|
GST090 |
Gastroduodenal Crohn's Disease |
28 |
265 |
|
ATM015 |
Autoimmune Disease of Gastrointestinal Tract |
24 |
266 |
|
MRT009 |
Martinez-Frias Syndrome |
20 |
267 |
P
|
NRN029 |
Neuronal Intestinal Dysplasia |
19 |
268 |
|
GST046 |
Gastrointestinal Anthrax |
17 |
269 |
|
INT043 |
Intestinal Disaccharidase Deficiency |
12 |
270 |
|
SML035 |
Small Intestine Carcinoid Neuroendocrine Tumor |
5 |
271 |
|
MDL026 |
Medullary Colon Carcinoma |
5 |
272 |
P
|
DDN001 |
Duodenal Ulcer |
53 |
273 |
|
ENT011 |
Enterocolitis |
52 |
274 |
|
DDN006 |
Duodenitis |
46 |
275 |
|
ACT058 |
Active Peptic Ulcer Disease |
43 |
276 |
|
INT060 |
Intestinal Atresia |
42 |
277 |
P
|
GST100 |
Gastric Neuroendocrine Tumor |
38 |
278 |
|
LYM015 |
Lymphocytic Gastritis |
33 |
279 |
|
GST039 |
Gastroduodenitis |
33 |
280 |
|
PNM003 |
Pneumatosis Cystoides Intestinalis |
31 |
281 |
|
ENT007 |
Enteropathica |
29 |
282 |
|
CHR067 |
Chronic Intestinal Vascular Insufficiency |
29 |
283 |
|
GRN011 |
Granulomatous Gastritis |
28 |
284 |
|
INT050 |
Intestinal Impaction |
27 |
285 |
|
FNC006 |
Functional Gastric Disease |
26 |
286 |
|
GST014 |
Gastrointestinal Lymphoma |
24 |
287 |
c
|
GST091 |
Gastrointestinal Neuroendocrine Benign Tumor |
21 |
288 |
|
CHR603 |
Chronic Enteropathy Associated with Slco2a1 Gene |
21 |
289 |
|
GST038 |
Gastrointestinal Adenoma |
19 |
290 |
c
|
CHR464 |
Chronic Intestinal Failure |
19 |
291 |
|
APH015 |
Aphalangy with Hemivertebrae |
18 |
292 |
c
|
SCN043 |
Secondary Intestinal Lymphangiectasia |
17 |
293 |
c
|
NRN038 |
Neuronal Intestinal Dysplasia, Type B |
17 |
294 |
|
CPL012 |
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth |
17 |
295 |
|
NKC001 |
Nk-Cell Enteropathy |
16 |
296 |
|
HMZ004 |
Homozygous 11p15-P14 Deletion Syndrome |
15 |
297 |
|
PLY153 |
Polyposis of Gastric Fundus Without Polyposis Coli |
15 |
298 |
|
NCR005 |
Necrotizing Gastritis |
15 |
299 |
|
GST055 |
Gastric Duplication Cysts |
13 |
300 |
|
ACQ006 |
Acquired Gastric Outlet Stenosis |
13 |
301 |
|
ENT017 |
Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency |
12 |
302 |
|
CNG363 |
Congenital Enterocyte Heparan Sulfate Deficiency |
11 |
303 |
c
|
DDN013 |
Duodenal Ulcer Due to Antral G-Cell Hyperfunction |
11 |
304 |
|
HMN039 |
Hemangiomas of Small Intestine |
11 |
305 |
|
DVR008 |
Diverticulosis, Small-Intestinal |
11 |
306 |
|
PRT022 |
Protozoal Dysentery |
10 |
307 |
|
CLN048 |
Colonic Varices Without Portal Hypertension |
9 |
308 |
|
CLN023 |
Colonic Malakoplakia |
9 |
309 |
|
LTB003 |
Ltbp4-Related Cutis Laxa |
9 |
310 |
|
PLY154 |
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal |
8 |
311 |
|
GST102 |
Gastric Volvulus, Intrathoracic |
8 |
312 |
|
DGS006 |
Digestive Duplication Cyst of the Tongue |
7 |
313 |
|
PLY152 |
Polyposis, Intestinal, with Multiple Exostoses |
7 |
314 |
|
END008 |
Endometriosis of Intestine |
7 |
315 |
c
|
INT019 |
Intestine Carcinoma in Situ |
6 |
316 |
|
LRG006 |
Large Bowel Leiomyoma |
6 |
317 |
|
PRN015 |
Perinatal Intestinal Perforation |
5 |
318 |
|
ANG012 |
Angiodysplasia of Intestine |
5 |
319 |
|
INV020 |
Invasive Infections Due to Vancomycin-Resistant Enterococci |
5 |
320 |
|
CLN013 |
Colonic L-Cell Glucagon-Like Peptide Producing Tumor |
5 |
321 |
|
SML013 |
Small Intestinal L-Cell Glucagon-Like Peptide Producing Tumor |
5 |
322 |
|
MYP066 |
Myopathic Intestinal Pseudoobstruction |
5 |
323 |
c
|
FML335 |
Familial Gastric Type 1 Neuroendocrine Tumor |
5 |
324 |
c
|
ATM071 |
Autoimmune Enteropathy Type 2 |
5 |
325 |
c
|
ATM070 |
Autoimmune Enteropathy Type 3 |
5 |
326 |
|
GST104 |
Gastric Juice Peptides |
4 |
327 |
|
UNC010 |
Unclassified Intestinal Pseudoobstruction |
4 |
328 |
|
BNG088 |
Benign Infantile Seizures Associated with Mild Gastroenteritis |
4 |
329 |
|
ENT009 |
Enterovirus Antenatal Infection |
2 |
330 |
|
ULC004 |
Ulcerative Colitis |
80 |
331 |
P
|
CNJ013 |
Conjunctivitis |
67 |
332 |
P
|
PRD008 |
Periodontitis |
67 |
333 |
|
APP008 |
Appendicitis |
64 |
334 |
|
GNG013 |
Gingivitis |
64 |
335 |
P
|
ESP024 |
Esophagitis |
64 |
336 |
|
CLT003 |
Colitis |
63 |
337 |
|
PPT005 |
Peptic Ulcer Disease |
60 |
338 |
|
ING001 |
Inguinal Hernia |
59 |
339 |
|
ESP023 |
Esophageal Disease |
58 |
340 |
|
CNS004 |
Constipation |
57 |
341 |
P
|
ESP035 |
Esophagitis, Eosinophilic, 1 |
55 |
342 |
|
DGR001 |
Digeorge Syndrome |
55 |
343 |
|
BLR006 |
Biliary Tract Disease |
55 |
344 |
|
TTH006 |
Tooth Disease |
54 |
345 |
|
DYS014 |
Dyspepsia |
54 |
346 |
c
|
INF071 |
Inflammatory Bowel Disease 1 |
54 |
347 |
|
CRH005 |
Crohn's Colitis |
53 |
348 |
P
|
SCL009 |
Sclerosing Cholangitis |
53 |
349 |
P
|
OBS001 |
Obstructive Jaundice |
53 |
350 |
|
ILT001 |
Ileitis |
52 |
351 |
P
|
INF037 |
Inflammatory Bowel Disease |
52 |
352 |
P
|
CHL066 |
Cholangitis |
52 |
353 |
|
GNG012 |
Gingival Overgrowth |
52 |
354 |
|
RDT013 |
Radiation Proctitis |
51 |
355 |
|
CHL004 |
Cholelithiasis |
51 |
356 |
|
DNT012 |
Dental Caries |
50 |
357 |
|
PLP001 |
Pulpitis |
50 |
358 |
|
MCR191 |
Microscopic Colitis |
50 |
359 |
c
|
PRD040 |
Periodontitis, Chronic |
49 |
360 |
|
DRR008 |
Diarrhea 1, Secretory Chloride, Congenital |
47 |
361 |
|
PYL006 |
Pyloric Stenosis |
47 |
362 |
|
TBR008 |
Tuberculous Peritonitis |
46 |
363 |
|
GLS007 |
Glossitis |
46 |
364 |
P
|
HYP009 |
Hypertrophic Pyloric Stenosis |
45 |
365 |
|
GNG003 |
Gingival Recession |
45 |
366 |
|
PRD003 |
Periodontosis |
45 |
367 |
|
ANL022 |
Anal Fistula |
45 |
368 |
|
DMP001 |
Dumping Syndrome |
45 |
369 |
|
PRC003 |
Proctitis |
44 |
370 |
|
DVR002 |
Diverticulitis |
44 |
371 |
c
|
CHR086 |
Chronic Conjunctivitis |
44 |
372 |
|
DYS015 |
Dysentery |
43 |
373 |
|
ILC002 |
Ileocolitis |
43 |
374 |
|
UMB002 |
Umbilical Hernia |
43 |
375 |
|
MGS001 |
Megaesophagus |
42 |
376 |
|
HRN026 |
Hernia, Hiatus |
42 |
377 |
|
STT004 |
Steatorrhea |
41 |
378 |
|
JJN008 |
Jejunoileitis |
41 |
379 |
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
41 |
380 |
|
EXT006 |
Extrahepatic Cholestasis |
39 |
381 |
|
ISC015 |
Ischemic Colitis |
39 |
382 |
|
CHL013 |
Cholecystolithiasis |
39 |
383 |
|
ACL001 |
Acalculous Cholecystitis |
39 |
384 |
|
DYS011 |
Dyskinesia of Esophagus |
39 |
385 |
|
PRL008 |
Paralytic Ileus |
38 |
386 |
|
RTC003 |
Root Caries |
38 |
387 |
|
GRN009 |
Granulomatous Hepatitis |
38 |
388 |
|
DDN007 |
Duodenal Disease |
38 |
389 |
|
RCT017 |
Rectal Disease |
38 |
390 |
|
PPT002 |
Peptic Ulcer Perforation |
38 |
391 |
|
CHL039 |
Choledocholithiasis |
38 |
392 |
c
|
BCT006 |
Bacterial Conjunctivitis |
37 |
393 |
c
|
INF063 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
37 |
394 |
|
ANS012 |
Anus Disease |
37 |
395 |
|
SCR003 |
Secretory Diarrhea |
36 |
396 |
|
PST035 |
Postgastrectomy Syndrome |
36 |
397 |
|
FNC002 |
Functional Diarrhea |
36 |
398 |
|
CHR610 |
Chromosome 10q22.3-Q23.2 Deletion Syndrome |
36 |
399 |
|
ANK008 |
Ankyloglossia |
36 |
400 |
|
PST030 |
Postcholecystectomy Syndrome |
35 |
401 |
c
|
ACT036 |
Acute Cholangitis |
35 |
402 |
|
RFR013 |
Refractory Celiac Disease |
34 |
403 |
|
TXC001 |
Toxic Megacolon |
34 |
404 |
|
CPP003 |
Cap Polyposis |
34 |
405 |
|
DDN009 |
Duodenal Obstruction |
34 |
406 |
|
CCL002 |
Cecal Disease |
34 |
407 |
c
|
INF086 |
Inflammatory Bowel Disease 3 |
34 |
408 |
|
DDN004 |
Duodenogastric Reflux |
33 |
409 |
|
ASC003 |
Ascending Cholangitis |
33 |
410 |
|
ESP029 |
Esophageal Atresia/tracheoesophageal Fistula |
32 |
411 |
|
BLR004 |
Biliary Dyskinesia |
32 |
412 |
c
|
ACT067 |
Acute Conjunctivitis |
32 |
413 |
|
SPP004 |
Suppurative Cholangitis |
32 |
414 |
|
FSS001 |
Fissured Tongue |
32 |
415 |
|
MCK029 |
Meckel Diverticulum |
32 |
416 |
|
HYP466 |
Hyperplastic Polyposis Syndrome |
32 |
417 |
c
|
INF087 |
Inflammatory Bowel Disease 4 |
31 |
418 |
c
|
CHR013 |
Chronic Apical Periodontitis |
31 |
419 |
|
DVR006 |
Diversion Colitis |
31 |
420 |
|
ATR073 |
Atrophic Glossitis |
30 |
421 |
|
BLN006 |
Blind Loop Syndrome |
30 |
422 |
|
EPS001 |
Epstein-Barr Virus Hepatitis |
29 |
423 |
|
DNT006 |
Dental Pulp Necrosis |
29 |
424 |
|
DRR017 |
Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies |
29 |
425 |
|
SPP003 |
Suppurative Periapical Periodontitis |
29 |
426 |
|
DRR013 |
Diarrhea 8, Secretory Sodium, Congenital |
28 |
427 |
|
MDN001 |
Median Rhomboid Glossitis |
28 |
428 |
c
|
INF089 |
Inflammatory Bowel Disease 6 |
28 |
429 |
|
PRC008 |
Pericholangitis |
28 |
430 |
|
GLL029 |
Gallbladder Adenoma |
27 |
431 |
|
OSM001 |
Osmotic Diarrhea |
27 |
432 |
|
DNT010 |
Dentin Caries |
27 |
433 |
c
|
INF092 |
Inflammatory Bowel Disease 9 |
27 |
434 |
|
LCT013 |
Lactase Deficiency, Congenital |
26 |
435 |
|
CHM005 |
Chemical Colitis |
26 |
436 |
|
ACT062 |
Acute Pericementitis |
25 |
437 |
c
|
PYL018 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
25 |
438 |
|
PYL002 |
Pylorospasm |
25 |
439 |
|
ESN022 |
Eosinophilic Colitis |
25 |
440 |
|
ATM081 |
Autoimmune Disease, Multisystem, with Facial Dysmorphism |
24 |
441 |
c
|
INF075 |
Inflammatory Bowel Disease 16 |
24 |
442 |
P
|
HRD144 |
Hereditary Mixed Polyposis Syndrome |
24 |
443 |
c
|
INF064 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
23 |
444 |
c
|
INF088 |
Inflammatory Bowel Disease 5 |
23 |
445 |
c
|
INF078 |
Inflammatory Bowel Disease 2 |
22 |
446 |
c
|
CHR036 |
Chronic Cholangitis |
22 |
447 |
c
|
INF072 |
Inflammatory Bowel Disease 11 |
21 |
448 |
|
EMP002 |
Emphysematous Cholecystitis |
21 |
449 |
c
|
INF077 |
Inflammatory Bowel Disease 19 |
20 |
450 |
|
MYM014 |
Moyamoya Disease 6 with Achalasia |
20 |
451 |
c
|
SCN059 |
Secondary Sclerosing Cholangitis |
20 |
452 |
|
GLL011 |
Gallbladder Leiomyoma |
19 |
453 |
c
|
INF090 |
Inflammatory Bowel Disease 7 |
19 |
454 |
|
AFF001 |
Afferent Loop Syndrome |
19 |
455 |
|
FNG003 |
Fungal Esophagitis |
19 |
456 |
|
PLY138 |
Polymerase Proofreading-Related Adenomatous Polyposis |
17 |
457 |
c
|
INF079 |
Inflammatory Bowel Disease 20 |
17 |
458 |
c
|
INF068 |
Inflammatory Bowel Disease 13 |
16 |
459 |
|
SLT007 |
Solitary Rectal Ulcer Syndrome |
16 |
460 |
c
|
INF160 |
Inflammatory Bowel Disease 17 |
16 |
461 |
|
HRS038 |
Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features |
15 |
462 |
c
|
INF067 |
Inflammatory Bowel Disease 10 |
15 |
463 |
c
|
PLY066 |
Polyposis Syndrome, Hereditary Mixed, 2 |
15 |
464 |
c
|
INF093 |
Inflammatory Bowel Disease 14 |
15 |
465 |
c
|
INF080 |
Inflammatory Bowel Disease 21 |
14 |
466 |
P
|
ACT046 |
Acute Apical Periodontitis |
14 |
467 |
|
MCC004 |
Mucocele of Appendix |
14 |
468 |
c
|
ESP034 |
Esophagitis, Eosinophilic, 2 |
14 |
469 |
|
ANL005 |
Anal Spasm |
14 |
470 |
|
ANR003 |
Anorectal Stricture |
13 |
471 |
c
|
INF073 |
Inflammatory Bowel Disease 12 |
13 |
472 |
c
|
INF091 |
Inflammatory Bowel Disease 8 |
13 |
473 |
c
|
INF081 |
Inflammatory Bowel Disease 22 |
13 |
474 |
|
MCK004 |
Meckel's Diverticulitis |
13 |
475 |
|
PRT107 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
12 |
476 |
|
HYD004 |
Hydrops of Gallbladder |
12 |
477 |
|
CRY031 |
Cryptogenic Multifocal Ulcerous Stenosing Enteritis |
12 |
478 |
c
|
INF082 |
Inflammatory Bowel Disease 23 |
12 |
479 |
c
|
INF076 |
Inflammatory Bowel Disease 18 |
12 |
480 |
c
|
INF074 |
Inflammatory Bowel Disease 15 |
12 |
481 |
c
|
INF084 |
Inflammatory Bowel Disease 26 |
12 |
482 |
c
|
INF085 |
Inflammatory Bowel Disease 27 |
12 |
483 |
c
|
INF083 |
Inflammatory Bowel Disease 24 |
12 |
484 |
c
|
INF162 |
Inflammatory Bowel Disease 25 |
12 |
485 |
|
SGM001 |
Sigmoid Disease |
12 |
486 |
c
|
INF161 |
Inflammatory Bowel Disease 28 |
11 |
487 |
|
ANL006 |
Anal Paget's Disease |
11 |
488 |
|
ESP008 |
Esophageal Leukoplakia |
10 |
489 |
|
PLP002 |
Pulp Degeneration |
10 |
490 |
|
CHR009 |
Chronic Duodenal Ileus |
10 |
491 |
|
CHR474 |
Chronic Diarrhea Due to Glucoamylase Deficiency |
9 |
492 |
|
ESP017 |
Esophageal Diverticulosis |
9 |
493 |
c
|
PYL011 |
Pyloric Stenosis, Infantile Hypertrophic, 5 |
9 |
494 |
|
GLL014 |
Gallbladder Rhabdomyosarcoma |
9 |
495 |
|
STR003 |
Strawberry Gallbladder |
9 |
496 |
c
|
JND003 |
Jaundice, Familial Obstructive, of Infancy |
9 |
497 |
c
|
BCT001 |
Bacterial Esophagitis |
9 |
498 |
|
GLL016 |
Gallbladder Leiomyosarcoma |
8 |
499 |
|
DSP001 |
Displacement of Cardia Through Esophageal Hiatus |
8 |
500 |
|
UND004 |
Undetermined Colitis |
8 |
501 |
c
|
PYL009 |
Pyloric Stenosis, Infantile Hypertrophic, 3 |
8 |
502 |
c
|
PYL008 |
Pyloric Stenosis, Infantile Hypertrophic, 2 |
8 |
503 |
c
|
PYL010 |
Pyloric Stenosis, Infantile Hypertrophic, 4 |
8 |
504 |
|
ODN001 |
Odontoclasia |
8 |
505 |
|
DRR012 |
Diarrhea, Chronic, with Villous Atrophy |
8 |
506 |
|
CNG301 |
Congenital Sucrase-Isomaltase Deficiency with Minimal Starch Tolerance |
7 |
507 |
|
CNG300 |
Congenital Sucrase-Isomaltase Deficiency Without Starch Intolerance |
7 |
508 |
|
CNG299 |
Congenital Sucrase-Isomaltase Deficiency with Starch Intolerance |
7 |
509 |
|
CNG304 |
Congenital Sucrase-Isomaltase Deficiency with Starch and Lactose Intolerance |
7 |
510 |
|
OCC004 |
Occlusion of Gallbladder |
7 |
511 |
|
CNG305 |
Congenital Sucrase-Isomaltase Deficiency Without Sucrose Intolerance |
7 |
512 |
|
GCG001 |
Gcgr-Related Hyperglucagonemia |
7 |
513 |
|
HYP049 |
Hypertrophy of Tongue Papillae |
7 |
514 |
|
ANS008 |
Anus Rhabdomyosarcoma |
7 |
515 |
|
GLL002 |
Gallbladder Angiosarcoma |
7 |
516 |
|
ANS009 |
Anus Leiomyosarcoma |
7 |
517 |
|
ULC002 |
Ulcer of Anus and Rectum |
6 |
518 |
c
|
SSC054 |
Susceptibility to Localized Juvenile Periodontitis |
6 |
519 |
|
OTL001 |
Outlet Dysfunction Constipation |
6 |
520 |
|
FBR006 |
Fibroepithelial Polyp of the Anus |
6 |
521 |
|
INT285 |
Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome |
5 |
522 |
|
GLL003 |
Gallbladder Lipoma |
5 |
523 |
|
GLL006 |
Gallbladder Papillomatosis |
5 |
524 |
|
ANS005 |
Anus Leiomyoma |
5 |
525 |
|
DPH005 |
Diphtheritic Peritonitis |
5 |
526 |
|
MTL001 |
Motility-Related Diarrhea |
3 |
527 |
c
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
54 |
528 |
P
|
CLR023 |
Colorectal Cancer |
98 |
529 |
c
|
FML053 |
Familial Colorectal Cancer |
44 |
530 |
c
|
CLR085 |
Colorectal Cancer 1 |
32 |
531 |
c
|
FML311 |
Familial Colorectal Cancer Type X |
32 |
532 |
c
|
CLR077 |
Colorectal Cancer 10 |
24 |
533 |
c
|
CLR075 |
Colorectal Cancer 3 |
20 |
534 |
c
|
CLR079 |
Colorectal Cancer 2 |
20 |
535 |
c
|
CLR080 |
Colorectal Cancer 5 |
19 |
536 |
c
|
CLR087 |
Colorectal Cancer 12 |
19 |
537 |
c
|
CLR083 |
Colorectal Cancer 8 |
14 |
538 |
c
|
CLR082 |
Colorectal Cancer 7 |
13 |
539 |
c
|
CLR081 |
Colorectal Cancer 6 |
13 |
540 |
c
|
CLR078 |
Colorectal Cancer 11 |
11 |
541 |
c
|
CLR084 |
Colorectal Cancer 9 |
11 |
542 |
|
ACR056 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
51 |
543 |
|
INT319 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
32 |
544 |
P
|
DFF019 |
Diffuse Gastric Cancer |
43 |
545 |
P
|
LYN001 |
Lynch Syndrome |
71 |
546 |
|
SML036 |
Small Intestinal Adenocarcinoma |
51 |
547 |
c
|
FML346 |
Familial Adenomatous Polyposis 1 |
63 |
548 |
c
|
FML347 |
Familial Adenomatous Polyposis 2 |
24 |
549 |
c
|
FML339 |
Familial Adenomatous Polyposis 4 |
21 |
550 |
c
|
FML299 |
Familial Adenomatous Polyposis 3 |
21 |
551 |
|
HYP550 |
Hypomagnesemia 1, Intestinal |
38 |
552 |
|
JJN004 |
Jejunal Atresia |
33 |
553 |
|
GST027 |
Gastric Lymphoma |
53 |
554 |
P
|
GST049 |
Gastrointestinal System Cancer |
60 |
555 |
P
|
MGL001 |
Megaloblastic Anemia |
52 |
556 |
|
DRR016 |
Diarrhea 2, with Microvillus Atrophy |
48 |
557 |
c
|
MGL018 |
Megaloblastic Anemia 1 |
43 |
558 |
|
LYM129 |
Lymphoma, Mucosa-Associated Lymphoid Type |
67 |
559 |
|
GST040 |
Gastric Adenocarcinoma |
60 |
560 |
c
|
LYN004 |
Lynch Syndrome I |
59 |
561 |
|
CRC014 |
Carcinoid Tumors, Intestinal |
46 |
562 |
|
STM011 |
Stomach Cancer, Childhood |
5 |
563 |
|
CLN015 |
Colon Adenocarcinoma |
53 |
564 |
P
|
LYM124 |
Lymphangiectasia, Intestinal |
35 |
565 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
566 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
51 |
567 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
50 |
568 |
|
WHP001 |
Whipple Disease |
50 |
569 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
50 |
570 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
48 |
571 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
42 |
572 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
41 |
573 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
41 |
574 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
40 |
575 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
40 |
576 |
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
39 |
577 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
38 |
578 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
38 |
579 |
c
|
SPS126 |
Spastic Paraplegia 49, Autosomal Recessive |
38 |
580 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
581 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
38 |
582 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
37 |
583 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
37 |
584 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
37 |
585 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
37 |
586 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
36 |
587 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
36 |
588 |
c
|
SPS098 |
Spastic Paraplegia 30, Autosomal Recessive |
35 |
589 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
35 |
590 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
34 |
591 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
34 |
592 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
34 |
593 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
34 |
594 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
34 |
595 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
34 |
596 |
c
|
SPS101 |
Spastic Paraplegia 56, Autosomal Recessive |
33 |
597 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
33 |
598 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
33 |
599 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
33 |
600 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
32 |
601 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
32 |
602 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
31 |
603 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
31 |
604 |
P
|
SPS012 |
Spastic Paraplegia 3a |
31 |
605 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
30 |
606 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
30 |
607 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
30 |
608 |
c
|
SPS031 |
Spastic Paraplegia 23 |
29 |
609 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
28 |
610 |
c
|
SPS036 |
Spastic Paraplegia 3 |
28 |
611 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
28 |
612 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
28 |
613 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
27 |
614 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
27 |
615 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
26 |
616 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
26 |
617 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
26 |
618 |
c
|
SPS092 |
Spastic Paraplegia 11 |
26 |
619 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
26 |
620 |
c
|
SPS021 |
Spastic Paraplegia 10 |
26 |
621 |
c
|
SPS039 |
Spastic Paraplegia 5a |
25 |
622 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
25 |
623 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
25 |
624 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
25 |
625 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
24 |
626 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
24 |
627 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
24 |
628 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
24 |
629 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
24 |
630 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
24 |
631 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
23 |
632 |
c
|
SPS025 |
Spastic Paraplegia 15 |
23 |
633 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
23 |
634 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
23 |
635 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
23 |
636 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
22 |
637 |
c
|
SPS091 |
Spastic Paraplegia 4 |
21 |
638 |
c
|
SPS041 |
Spastic Paraplegia 6 |
21 |
639 |
c
|
SPS020 |
Spastic Paraplegia 1 |
20 |
640 |
c
|
SPS013 |
Spastic Paraplegia 8 |
19 |
641 |
c
|
SPS037 |
Spastic Paraplegia 31 |
18 |
642 |
c
|
SPS034 |
Spastic Paraplegia 26 |
18 |
643 |
c
|
SPS023 |
Spastic Paraplegia 13 |
18 |
644 |
c
|
SPS028 |
Spastic Paraplegia 18 |
18 |
645 |
c
|
SPS027 |
Spastic Paraplegia 17 |
17 |
646 |
c
|
SPS080 |
Spastic Paraplegia 51 |
16 |
647 |
c
|
SPS022 |
Spastic Paraplegia 12 |
16 |
648 |
c
|
SPS161 |
Spastic Paraplegia 32 |
15 |
649 |
c
|
SPS035 |
Spastic Paraplegia 29 |
15 |
650 |
c
|
SPS033 |
Spastic Paraplegia 25 |
15 |
651 |
c
|
SPS032 |
Spastic Paraplegia 24 |
15 |
652 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
15 |
653 |
c
|
SPS029 |
Spastic Paraplegia 19 |
15 |
654 |
c
|
SPS026 |
Spastic Paraplegia 16 |
15 |
655 |
c
|
SPS038 |
Spastic Paraplegia 39 |
14 |
656 |
c
|
SPS024 |
Spastic Paraplegia 14 |
13 |
657 |
c
|
SPS040 |
Spastic Paraplegia 5b |
11 |
658 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
11 |
659 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
11 |
660 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
11 |
661 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
11 |
662 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
11 |
663 |
c
|
ATS186 |
Autosomal Recessive Spastic Paraplegia Type 68 |
11 |
664 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
11 |
665 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
11 |
666 |
|
CRH001 |
Crohn's Disease |
80 |
667 |
|
ABC001 |
Abcd Syndrome |
25 |
668 |
c
|
CLR041 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
23 |
669 |
P
|
CLR037 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
19 |
670 |
c
|
CLR039 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
18 |
671 |
c
|
CLR100 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
17 |
672 |
c
|
CLR089 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
17 |
673 |
|
ZLL002 |
Zollinger-Ellison Syndrome |
57 |
674 |
|
CHY002 |
Chylomicron Retention Disease |
54 |
675 |
|
GST029 |
Gastric Cardia Adenocarcinoma |
44 |
676 |
|
ENT008 |
Enteropathy-Associated T-Cell Lymphoma |
37 |
677 |
|
GST012 |
Gastroesophageal Junction Adenocarcinoma |
36 |
678 |
|
GST016 |
Gastric Signet Ring Cell Adenocarcinoma |
35 |
679 |
|
CLN002 |
Colon Mucinous Adenocarcinoma |
31 |
680 |
|
MCN009 |
Mucinous Stomach Adenocarcinoma |
28 |
681 |
|
DLF001 |
Dieulafoy Lesion |
24 |
682 |
|
OGL001 |
Ogilvie Syndrome |
20 |
683 |
|
NRP049 |
Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux |
19 |
684 |
|
ESP021 |
Esophageal Cancer |
79 |
685 |
|
AMB001 |
Amebiasis |
48 |
686 |
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
35 |
687 |
|
MNG003 |
Mungan Syndrome |
34 |
688 |
|
MLL004 |
Mallory-Weiss Syndrome |
25 |
689 |
|
PRX093 |
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias |
22 |
690 |
|
GST009 |
Gastroschisis |
55 |
691 |
|
CMP080 |
Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy |
40 |
692 |
|
LRG016 |
Large Intestine Adenocarcinoma |
37 |
693 |
P
|
GST047 |
Gastrointestinal Neuroendocrine Tumor |
36 |
694 |
|
CRR017 |
Curry-Jones Syndrome |
33 |
695 |
|
BLN004 |
Balantidiasis |
27 |
696 |
|
MTC096 |
Mitchell-Riley Syndrome |
23 |
697 |
c
|
CLR055 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
17 |
698 |
|
SGM002 |
Sigmoid Neoplasm |
33 |
699 |
|
GST017 |
Gastric Tubular Adenocarcinoma |
29 |
700 |
c
|
VSC054 |
Visceral Neuropathy, Familial, Autosomal Recessive |
18 |
701 |
|
SPL003 |
Splenic Flexure Cancer |
17 |
702 |
|
GST032 |
Gastric Papillary Adenocarcinoma |
15 |
703 |
|
HPT005 |
Hepatic Flexure Cancer |
15 |
704 |
c
|
VSC056 |
Visceral Neuropathy, Familial, Autosomal Dominant |
11 |
705 |
|
PYL007 |
Pylorus Cancer |
11 |
706 |
|
INT044 |
Intestinal Variant Cervical Mucinous Adenocarcinoma |
5 |
707 |
|
CLN001 |
Colon Signet Ring Adenocarcinoma |
5 |
708 |
|
KRT026 |
Keratosis Palmoplantaris Adenocarcinoma of the Colon |
3 |
709 |
|
STR008 |
Strongyloidiasis |
54 |
710 |
|
EPD077 |
Epidermolysis Bullosa Junctionalis with Pyloric Atresia |
51 |
711 |
|
PRM237 |
Primary Hypomagnesemia |
40 |
712 |
|
TRP004 |
Tropical Sprue |
38 |
713 |
|
RCT015 |
Reactive Arthritis |
65 |
714 |
c
|
FRC011 |
Fructose Intolerance, Hereditary |
56 |
715 |
c
|
TRC091 |
Trichorhinophalangeal Syndrome, Type Ii |
53 |
716 |
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
48 |
717 |
|
PRS034 |
Parasitic Helminthiasis Infectious Disease |
45 |
718 |
|
CRN055 |
Carney Triad |
45 |
719 |
c
|
TRC093 |
Trichorhinophalangeal Syndrome, Type Iii |
25 |
720 |
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
25 |
721 |
c
|
TRC104 |
Trichorhinophalangeal Syndrome Type 1 and 3 |
18 |
722 |
P
|
ACQ013 |
Acquired Fructose Intolerance |
15 |
723 |
|
GMF001 |
Game Friedman Paradice Syndrome |
9 |
724 |
|
LCR014 |
Lacrimoauriculodentodigital Syndrome |
59 |
725 |
|
CLR109 |
Colorectal Adenocarcinoma |
54 |
726 |
c
|
GMM003 |
Gamma Heavy Chain Disease |
49 |
727 |
|
PNC016 |
Pancreatic Cholera |
41 |
728 |
P
|
HVY001 |
Heavy Chain Disease |
41 |
729 |
|
PNC027 |
Pancreatic Gastrinoma |
37 |
730 |
c
|
ALP005 |
Alpha Chain Disease |
32 |
731 |
c
|
ALP087 |
Alpha-Heavy Chain Disease |
27 |
732 |
|
GST042 |
Gastric Diffuse Adenocarcinoma |
26 |
733 |
P
|
MCH003 |
Mu Chain Disease |
21 |
734 |
c
|
SPS042 |
Spastic Paraplegia 9 |
19 |
735 |
|
PNC011 |
Pancreatic Vasoactive Intestinal Peptide Producing Tumor |
17 |
736 |
|
LKM072 |
Leukemia, Acute Myelocytic, with Polyposis Coli and Colon Cancer |
11 |
737 |
|
SGL001 |
Siegler Brewer Carey Syndrome |
10 |
738 |
|
PLX003 |
Plexosarcoma |
8 |
739 |
|
PYL003 |
Pyloric Antrum Cancer |
8 |
740 |
|
SQM019 |
Squamous Cell Carcinoma of the Small Intestine |
7 |
741 |
|
HRD181 |
Hereditary Neuroendocrine Tumor of Small Intestine |
6 |
742 |
|
MCP018 |
Mcpherson Clemens Syndrome |
6 |
743 |
|
SBM001 |
Submucosal Invasive Colon Adenocarcinoma |
5 |
744 |
|
STL002 |
Stalker Chitayat Syndrome |
4 |
745 |
c
|
DLT001 |
Delta Chain Disease |
4 |
746 |
P
|
LVR013 |
Liver Disease |
76 |
747 |
P
|
HPT021 |
Hepatitis |
75 |
748 |
c
|
HPT073 |
Hepatitis C Virus |
73 |
749 |
c
|
HPT001 |
Hepatitis C |
73 |
750 |
|
LVR012 |
Liver Cirrhosis |
73 |
751 |
P
|
FML011 |
Familial Adenomatous Polyposis |
71 |
752 |
c
|
ATM006 |
Autoimmune Lymphoproliferative Syndrome |
71 |
753 |
P
|
CHR012 |
Chronic Granulomatous Disease |
69 |
754 |
c
|
HPT016 |
Hepatitis B |
68 |
755 |
P
|
CWD001 |
Cowden Disease |
67 |
756 |
|
PRT036 |
Peritonitis |
67 |
757 |
|
CNT097 |
Central Hypoventilation Syndrome, Congenital |
65 |
758 |
P
|
GLL020 |
Gallbladder Disease |
64 |
759 |
|
PRD007 |
Periodontal Disease |
64 |
760 |
P
|
PNC044 |
Pancreatitis |
64 |
761 |
c
|
HPT003 |
Hepatitis a |
63 |
762 |
c
|
ATM011 |
Autoimmune Hepatitis |
63 |
763 |
P
|
PLV020 |
Pelvic Organ Prolapse |
63 |
764 |
|
ALC006 |
Alcoholic Hepatitis |
62 |
765 |
|
FTT001 |
Fatty Liver Disease |
62 |
766 |
c
|
ACT027 |
Acute Pancreatitis |
61 |
767 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
61 |
768 |
c
|
PNC108 |
Pancreatitis, Hereditary |
60 |
769 |
|
CHL068 |
Cholestasis |
60 |
770 |
c
|
CHL119 |
Cholangitis, Primary Sclerosing |
60 |
771 |
c
|
VRL010 |
Viral Hepatitis |
59 |
772 |
P
|
PRT013 |
Portal Hypertension |
59 |
773 |
|
CHL067 |
Cholecystitis |
58 |
774 |
|
STS003 |
Sitosterolemia |
58 |
775 |
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
58 |
776 |
c
|
HPT007 |
Hepatitis E |
57 |
777 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
56 |
778 |
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
56 |
779 |
P
|
LYM033 |
Lymphoproliferative Syndrome |
55 |
780 |
c
|
BRD013 |
Bardet-Biedl Syndrome 12 |
55 |
781 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
55 |
782 |
P
|
PRM006 |
Primary Biliary Cirrhosis |
55 |
783 |
c
|
CWD006 |
Cowden Syndrome 1 |
54 |
784 |
|
ESP020 |
Esophageal Atresia |
54 |
785 |
P
|
PLY023 |
Polycystic Liver Disease |
53 |
786 |
|
ALC009 |
Alcoholic Liver Cirrhosis |
53 |
787 |
|
GGR001 |
Geographic Tongue |
52 |
788 |
|
BLD036 |
Bile Duct Disease |
52 |
789 |
c
|
HPT015 |
Hepatitis D |
52 |
790 |
|
GLC036 |
Glucagonoma |
52 |
791 |
c
|
ACT134 |
Acute Liver Failure |
52 |
792 |
|
BNN001 |
Bannayan-Riley-Ruvalcaba Syndrome |
50 |
793 |
c
|
ATM024 |
Autoimmune Pancreatitis |
49 |
794 |
|
GLD006 |
Goldberg-Shprintzen Syndrome |
48 |
795 |
|
SLV003 |
Salivary Gland Disease |
47 |
796 |
|
LYM004 |
Lymphoid Interstitial Pneumonia |
47 |
797 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
46 |
798 |
|
GLL017 |
Gallbladder Adenocarcinoma |
46 |
799 |
c
|
LYM107 |
Lymphoproliferative Syndrome 2 |
45 |
800 |
c
|
PLY146 |
Polycystic Liver Disease 1 |
45 |
801 |
|
TRP008 |
Tropical Calcific Pancreatitis |
45 |
802 |
|
MCR037 |
Macroglossia |
44 |
803 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
44 |
804 |
|
DNT001 |
Dental Fluorosis |
44 |
805 |
|
CLL021 |
Collagenous Colitis |
43 |
806 |
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
43 |
807 |
c
|
RCR022 |
Recurrent Acute Pancreatitis |
43 |
808 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
42 |
809 |
c
|
BRD016 |
Bardet-Biedl Syndrome 4 |
42 |
810 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
41 |
811 |
c
|
ATM082 |
Autoimmune Lymphoproliferative Syndrome, Type V |
41 |
812 |
|
SLL001 |
Sialolithiasis |
41 |
813 |
|
DRG002 |
Drug-Induced Hepatitis |
41 |
814 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
40 |
815 |
|
GLC022 |
Glucose/galactose Malabsorption |
40 |
816 |
|
ANL004 |
Anal Canal Squamous Cell Carcinoma |
40 |
817 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
40 |
818 |
|
ACH015 |
Achalasia, Familial Esophageal |
39 |
819 |
|
AMP003 |
Ampulla of Vater Neoplasm |
39 |
820 |
c
|
GLL024 |
Gallbladder Disease 1 |
39 |
821 |
|
MTC111 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
39 |
822 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
38 |
823 |
|
ALV001 |
Alveolar Periostitis |
37 |
824 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
37 |
825 |
|
ORL019 |
Oral Hairy Leukoplakia |
37 |
826 |
|
BLR005 |
Biliary Papillomatosis |
36 |
827 |
|
PLS002 |
Peliosis Hepatis |
36 |
828 |
c
|
ATM083 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
36 |
829 |
|
AMP009 |
Ampulla of Vater Adenocarcinoma |
36 |
830 |
|
FLT009 |
Folate Malabsorption, Hereditary |
36 |
831 |
|
HYP021 |
Hypercementosis |
35 |
832 |
|
CLC003 |
Cloacogenic Carcinoma |
35 |
833 |
c
|
BLR024 |
Biliary Cirrhosis, Primary, 1 |
35 |
834 |
c
|
BRD045 |
Bardet-Biedl Syndrome 19 |
35 |
835 |
|
MLK004 |
Malakoplakia |
34 |
836 |
|
BLR002 |
Bile Reflux |
34 |
837 |
|
SCR037 |
Sucrase-Isomaltase Deficiency, Congenital |
33 |
838 |
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
33 |
839 |
|
XNT002 |
Xanthogranulomatous Cholecystitis |
33 |
840 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
33 |
841 |
|
ANL014 |
Anal Canal Adenocarcinoma |
33 |
842 |
|
PRP066 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease |
32 |
843 |
|
PNC028 |
Pancreatic Steatorrhea |
31 |
844 |
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
31 |
845 |
|
CHL040 |
Cholangiolocellular Carcinoma |
30 |
846 |
c
|
ATM097 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
30 |
847 |
|
HPT081 |
Hepatic Infarction |
30 |
848 |
|
NRG001 |
Neurogenic Bowel |
29 |
849 |
|
PLM049 |
Plummer Vinson Syndrome |
29 |
850 |
|
PRM014 |
Periampullary Adenocarcinoma |
29 |
851 |
|
PPM002 |
Ppoma |
29 |
852 |
|
SLV025 |
Salivary Gland Adenoma, Pleomorphic |
29 |
853 |
|
NTM001 |
Nutmeg Liver |
28 |
854 |
c
|
LVR030 |
Liver Failure, Infantile, Transient |
27 |
855 |
|
ADN088 |
Adenoma of the Pancreas |
27 |
856 |
|
GLL021 |
Gallbladder Sarcoma |
27 |
857 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
26 |
858 |
c
|
CWD007 |
Cowden Syndrome 3 |
26 |
859 |
|
PNC048 |
Pancreatic Lipase Deficiency |
26 |
860 |
|
MCC003 |
Mucocele of Salivary Gland |
25 |
861 |
|
INT049 |
Intrahepatic Bile Duct Adenoma |
25 |
862 |
|
LVR004 |
Liver Inflammatory Pseudotumor |
25 |
863 |
c
|
LYM106 |
Lymphoproliferative Syndrome 1 |
24 |
864 |
|
TTH030 |
Teeth, Supernumerary |
24 |
865 |
|
IMM055 |
Immunodeficiency, Common Variable, 8, with Autoimmunity |
24 |
866 |
|
ULC008 |
Ulcerative Proctitis |
24 |
867 |
c
|
CWD004 |
Cowden Syndrome 5 |
23 |
868 |
|
ADN005 |
Adenosquamous Gallbladder Carcinoma |
23 |
869 |
c
|
BRD051 |
Bardet-Biedl Syndrome 20 |
23 |
870 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
23 |
871 |
c
|
CWD008 |
Cowden Syndrome 6 |
23 |
872 |
|
CMM007 |
Common Bile Duct Disease |
23 |
873 |
|
EXC004 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis |
22 |
874 |
|
ANS010 |
Anus Adenocarcinoma |
22 |
875 |
|
MCN005 |
Mucinous Intrahepatic Cholangiocarcinoma |
22 |
876 |
|
GLS013 |
Glossodynia |
21 |
877 |
|
NRN031 |
Neuroendocrine Tumor of the Appendix |
21 |
878 |
|
MLG038 |
Malignant Anus Melanoma |
21 |
879 |
|
GLL013 |
Gallbladder Lymphoma |
21 |
880 |
|
TTH005 |
Teeth Hard Tissue Disease |
21 |
881 |
|
TRH001 |
Trehalase Deficiency |
21 |
882 |
c
|
CWD009 |
Cowden Syndrome 7 |
20 |
883 |
|
IMM075 |
Immunodeficiency 22 |
20 |
884 |
c
|
VRL006 |
Viral Esophagitis |
20 |
885 |
c
|
INF144 |
Inflammatory Skin and Bowel Disease, Neonatal, 1 |
20 |
886 |
|
CNG298 |
Congenital Pancreatic Cyst |
20 |
887 |
P
|
NNT037 |
Neonatal Inflammatory Skin and Bowel Disease |
20 |
888 |
|
IMM079 |
Immunodeficiency, Common Variable, 11 |
20 |
889 |
c
|
INF146 |
Inflammatory Skin and Bowel Disease, Neonatal, 2 |
19 |
890 |
|
TCL022 |
T-Cell Receptor-Alpha/beta Deficiency |
19 |
891 |
|
GRF006 |
Grfoma |
19 |
892 |
|
RCT023 |
Rectum Squamous Cell Carcinoma |
19 |
893 |
c
|
INF138 |
Infantile Liver Failure Syndrome 2 |
18 |
894 |
c
|
CWD005 |
Cowden Syndrome 4 |
18 |
895 |
c
|
CWD003 |
Cowden Syndrome 2 |
18 |
896 |
c
|
ATS229 |
Autosomal Recessive Lymphoproliferative Disease |
18 |
897 |
|
MCN018 |
Mucinous Adenocarcinoma of the Appendix |
17 |
898 |
|
GLL012 |
Gallbladder Melanoma |
17 |
899 |
c
|
BLR016 |
Biliary Cirrhosis, Primary, 2 |
17 |
900 |
|
CTN018 |
Cutaneous Photosensitivity and Colitis, Lethal |
16 |
901 |
|
SND005 |
Sandifer Syndrome |
16 |
902 |
c
|
ATM087 |
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency |
15 |
903 |
c
|
PLY143 |
Polycystic Liver Disease 2 |
15 |
904 |
c
|
ATM064 |
Autoimmune Pancreatitis Type 1 |
14 |
905 |
|
ANS001 |
Anus Basaloid Carcinoma |
14 |
906 |
c
|
BLR017 |
Biliary Cirrhosis, Primary, 3 |
13 |
907 |
|
BLD035 |
Bile Duct Cystadenoma |
13 |
908 |
|
GLL009 |
Gallbladder Signet Ring Cell Adenocarcinoma |
12 |
909 |
|
HLR004 |
Hilar Cholangiocellular Carcinoma |
12 |
910 |
c
|
GLL027 |
Gallbladder Disease 4 |
12 |
911 |
c
|
ATM063 |
Autoimmune Pancreatitis Type 2 |
12 |
912 |
|
UND008 |
Undifferentiated Carcinoma of Esophagus |
12 |
913 |
|
SRC004 |
Sarcomatous Intrahepatic Cholangiocarcinoma |
11 |
914 |
c
|
BLR026 |
Biliary Cirrhosis, Primary, 5 |
10 |
915 |
c
|
BLR025 |
Biliary Cirrhosis, Primary, 4 |
10 |
916 |
c
|
GRN044 |
Granulomatous Disease, Chronic, Autosomal Dominant Type |
10 |
917 |
c
|
GLL026 |
Gallbladder Disease 3 |
9 |
918 |
c
|
GLL025 |
Gallbladder Disease 2 |
9 |
919 |
|
AMP005 |
Ampullary Signet Ring Cell Adenocarcinoma |
9 |
920 |
|
AMP004 |
Ampulla of Vater Adenosquamous Carcinoma |
9 |
921 |
|
ANL010 |
Anal Neuroendocrine Tumor |
9 |
922 |
|
FML254 |
Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion |
9 |
923 |
|
ANL001 |
Anal Colloid Adenocarcinoma |
9 |
924 |
|
AMP006 |
Ampulla of Vater Squamous Cell Carcinoma |
8 |
925 |
|
ANL003 |
Anal Buschke-Lowenstein Tumor |
8 |
926 |
|
MLC005 |
Malocclusion Due to Protuberant Upper Front Teeth |
8 |
927 |
c
|
PLV014 |
Pelvic Organ Prolapse 2 |
8 |
928 |
|
AXN008 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
8 |
929 |
|
BLD037 |
Bile Duct Rhabdomyosarcoma |
8 |
930 |
|
ANS014 |
Anus Sarcoma |
8 |
931 |
|
NRF005 |
Neurofibroma of Gallbladder |
8 |
932 |
|
EXT021 |
Extrahepatic Bile Duct Leiomyosarcoma |
8 |
933 |
|
EXT028 |
Extrahepatic Bile Duct Adenoma |
8 |
934 |
|
GLL004 |
Gallbladder Papillary Carcinoma |
8 |
935 |
|
FLL045 |
Follicular Cholangitis and Pancreatitis |
8 |
936 |
|
PRF001 |
Perforation of Bile Duct |
8 |
937 |
|
AMP001 |
Ampulla of Vater Mucinous Adenocarcinoma |
8 |
938 |
|
AMP008 |
Ampulla of Vater Clear Cell Adenocarcinoma |
8 |
939 |
|
PRP089 |
Prp Systemic Amyloidosis |
7 |
940 |
|
PRN012 |
Perianal Skin Paget's Disease |
7 |
941 |
|
IDP068 |
Idiopathic Malabsorption Due to Bile Acid Synthesis Defects |
7 |
942 |
|
CLS051 |
Classic Neuroendocrine Tumor of Appendix |
7 |
943 |
|
MLG126 |
Malignant Epithelial Tumor of the Salivary Glands |
7 |
944 |
|
SGN003 |
Signet Ring Cell Intrahepatic Cholangiocarcinoma |
6 |
945 |
|
CYT021 |
Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder |
6 |
946 |
|
ANS007 |
Anus Lymphoma |
6 |
947 |
|
EXT005 |
Extrahepatic Bile Duct Lipoma |
5 |
948 |
|
EXT013 |
Extrahepatic Bile Duct Leiomyoma |
5 |
949 |
|
GLL010 |
Gallbladder Mucinous Carcinoma |
5 |
950 |
|
EXT017 |
Extrahepatic Bile Duct Papillary Adenoma |
5 |
951 |
|
EPT026 |
Epithelio-Exfoliative Colitis-Deafness Syndrome |
4 |
952 |
|
GLL005 |
Gallbladder Pleomorphic Giant Cell Adenocarcinoma |
4 |
953 |
c
|
PRT053 |
Portal Hypertension Due to Infrahepatic Block |
3 |
954 |
P
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
57 |
955 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
45 |
956 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
40 |
957 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
30 |
958 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
26 |
959 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
26 |
960 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
24 |
961 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
23 |
962 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
22 |
963 |
c
|
HRD195 |
Hereditary Sensory and Autonomic Neuropathy Type 1e |
17 |
964 |
|
DGS008 |
Digestive System Melanoma |
12 |
965 |
|
CLD014 |
Cole Disease |
32 |
966 |
|
MRT001 |
Muir-Torre Syndrome |
59 |
967 |
|
CYS005 |
Cysticercosis |
57 |
968 |
|
APP009 |
Appendix Adenocarcinoma |
37 |
969 |
|
IMM179 |
Immunodeficiency 31c |
29 |
970 |
|
MTC016 |
Mitochondrial Neurogastrointestinal Encephalopathy Disease |
28 |
971 |
P
|
PTT006 |
Pituitary Adenoma |
57 |
972 |
c
|
PTT056 |
Pituitary Adenoma 1, Multiple Types |
46 |
973 |
|
FML168 |
Familial Isolated Pituitary Adenoma |
28 |
974 |
c
|
PTT060 |
Pituitary Adenoma 5, Multiple Types |
14 |
975 |
c
|
PTT061 |
Pituitary Adenoma 3, Multiple Types |
13 |
976 |
|
BLD014 |
Bladder Colonic Type Adenocarcinoma |
7 |
977 |
|
WLS001 |
Wilson Disease |
72 |
978 |
|
VSC007 |
Vascular Disease |
71 |
979 |
c
|
MLT156 |
Multiple Endocrine Neoplasia, Type I |
70 |
980 |
|
CHL065 |
Cholangiocarcinoma |
70 |
981 |
|
GLL018 |
Gallbladder Cancer |
67 |
982 |
|
INS001 |
Insulinoma |
66 |
983 |
c
|
MLT160 |
Multiple Endocrine Neoplasia, Type Iia |
65 |
984 |
|
BRR014 |
Barrett Esophagus |
64 |
985 |
|
PNC034 |
Pancreas Disease |
59 |
986 |
|
BRL012 |
Bare Lymphocyte Syndrome, Type Ii |
57 |
987 |
|
BLR001 |
Biliary Atresia |
56 |
988 |
c
|
MLT159 |
Multiple Endocrine Neoplasia, Type Iib |
56 |
989 |
|
ORL004 |
Oral Submucous Fibrosis |
56 |
990 |
P
|
MLT074 |
Multiple Endocrine Neoplasia |
55 |
991 |
P
|
TRC086 |
Trichohepatoenteric Syndrome 1 |
54 |
992 |
|
HPT009 |
Hepatopulmonary Syndrome |
53 |
993 |
c
|
MLT086 |
Multiple Endocrine Neoplasia, Type Iv |
52 |
994 |
|
ACH005 |
Achalasia |
52 |
995 |
|
RYS001 |
Reye Syndrome |
50 |
996 |
|
SLD003 |
Sialadenitis |
49 |
997 |
|
ANL017 |
Anal Squamous Cell Carcinoma |
49 |
998 |
|
ANS011 |
Anus Cancer |
46 |
999 |
|
AND001 |
Anodontia |
46 |
1000 |
|
ATT003 |
Attenuated Familial Adenomatous Polyposis |
45 |
1001 |
|
BLD063 |
Bile Duct Cysts |
44 |
1002 |
|
SPR007 |
Superior Mesenteric Artery Syndrome |
42 |
1003 |
|
BLD032 |
Bile Duct Adenocarcinoma |
39 |
1004 |
|
LYM042 |
Lymphocytic Colitis |
38 |
1005 |
|
GBL002 |
Goblet Cell Carcinoid |
37 |
1006 |
|
PNC118 |
Pancreas, Annular |
37 |
1007 |
|
EXT027 |
Extrahepatic Bile Duct Adenocarcinoma |
36 |
1008 |
|
CRL004 |
Caroli Disease |
35 |
1009 |
|
GNT001 |
Giant Cell Reparative Granuloma |
34 |
1010 |
c
|
TRC078 |
Trichohepatoenteric Syndrome 2 |
34 |
1011 |
|
PNC019 |
Pancreatoblastoma |
33 |
1012 |
|
STY001 |
Satoyoshi Syndrome |
32 |
1013 |
|
MLT073 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
31 |
1014 |
|
BLD019 |
Bile Duct Cystadenocarcinoma |
31 |
1015 |
|
BLD005 |
Bile Duct Mucoepidermoid Carcinoma |
27 |
1016 |
|
GLL015 |
Gallbladder Squamous Cell Carcinoma |
27 |
1017 |
|
ACN026 |
Acinar Cell Carcinoma of Pancreas |
25 |
1018 |
|
ANL012 |
Anal Gland Adenocarcinoma |
24 |
1019 |
|
ILL008 |
Ileal Neuroendocrine Tumor |
23 |
1020 |
|
NRL023 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset |
23 |
1021 |
|
FLR007 |
Failure of Tooth Eruption, Primary |
23 |
1022 |
|
MCN022 |
Mucinous Cystadenocarcinoma of the Pancreas |
22 |
1023 |
|
GLL007 |
Gallbladder Small Cell Carcinoma |
22 |
1024 |
|
RCT005 |
Rectum Neuroendocrine Neoplasm |
21 |
1025 |
|
ANL016 |
Anal Margin Carcinoma |
20 |
1026 |
|
PNC014 |
Pancreatic Serous Cystadenocarcinoma |
19 |
1027 |
|
HRS039 |
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness |
18 |
1028 |
|
HRS037 |
Hirschsprung Disease with Type D Brachydactyly |
18 |
1029 |
|
HRS003 |
Hirschsprung Disease Ganglioneuroblastoma |
17 |
1030 |
|
JJN009 |
Jejunal Neuroendocrine Tumor |
16 |
1031 |
|
NRN034 |
Neuroendocrine Tumor of the Anal Canal |
15 |
1032 |
|
SQM020 |
Squamous Cell Carcinoma of the Pancreas |
14 |
1033 |
|
DST001 |
Distal Biliary Tract Carcinoma |
14 |
1034 |
|
SLD012 |
Solid Pseudopapillary Carcinoma of the Pancreas |
13 |
1035 |
|
INT039 |
Intrahepatic Biliary Papillomatosis |
13 |
1036 |
c
|
MLT164 |
Multiple Endocrine Neoplasia Type 1 and Type 2 |
13 |
1037 |
|
ANL007 |
Anal Margin Squamous Cell Carcinoma |
13 |
1038 |
|
INT014 |
Intrahepatic Gall Duct Cancer |
12 |
1039 |
|
BLD002 |
Bile Duct Mucinous Adenocarcinoma |
10 |
1040 |
|
BLD038 |
Bile Duct Sarcoma |
10 |
1041 |
|
PNC042 |
Pancreatic Intraductal Papillary-Colloid Carcinoma |
10 |
1042 |
|
BLD007 |
Bile Duct Signet Ring Cell Carcinoma |
10 |
1043 |
|
ADN003 |
Adenosquamous Bile Duct Carcinoma |
10 |
1044 |
|
BLD006 |
Bile Duct Clear Cell Adenocarcinoma |
10 |
1045 |
|
AMP002 |
Ampulla of Vater Small Cell Carcinoma |
10 |
1046 |
|
EXT015 |
Extrahepatic Biliary Papillomatosis |
9 |
1047 |
|
INT037 |
Intrahepatic Bile Duct Cystadenoma |
8 |
1048 |
|
EXT014 |
Extrahepatic Bile Duct Cystadenoma |
8 |
1049 |
|
CRC037 |
Carcinoma of Esophagus, Salivary Gland Type |
8 |
1050 |
|
ANL013 |
Anal Margin Basal Cell Carcinoma |
8 |
1051 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
7 |
1052 |
|
BLD001 |
Bile Duct Carcinoma in Situ |
6 |
1053 |
|
EXT002 |
Extrahepatic Bile Duct Small Cell Adenocarcinoma |
6 |
1054 |
|
PPL008 |
Papillary Extrahepatic Bile Duct Adenocarcinoma |
4 |
1055 |
|
GLL001 |
Gall Bladder Carcinoma in Situ |
3 |
1056 |
|
MSM014 |
Mismatch Repair Cancer Syndrome |
63 |
1057 |
P
|
VSC017 |
Visceral Neuropathy Familial |
8 |
1058 |
|
CLB003 |
Coloboma of Optic Nerve |
42 |
1059 |
|
VSC049 |
Visceral Myopathy, Familial, with External Ophthalmoplegia |
25 |
1060 |
|
FNC009 |
Fanconi-Bickel Syndrome |
53 |
1061 |
|
CYS001 |
Cystic Fibrosis |
85 |
1062 |
P
|
ALG028 |
Alagille Syndrome 1 |
68 |
1063 |
|
ABT001 |
Abetalipoproteinemia |
64 |
1064 |
P
|
INT001 |
Intrahepatic Cholestasis |
62 |
1065 |
|
BLD034 |
Bile Duct Carcinoma |
60 |
1066 |
|
INT079 |
Intrahepatic Cholangiocarcinoma |
60 |
1067 |
|
HPT046 |
Hepatic Veno-Occlusive Disease |
56 |
1068 |
|
SMT003 |
Somatostatinoma |
54 |
1069 |
|
BLR007 |
Biliary Tract Neoplasm |
53 |
1070 |
c
|
CHL132 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
52 |
1071 |
|
HPT014 |
Hepatorenal Syndrome |
49 |
1072 |
c
|
CHL137 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
47 |
1073 |
|
KLT001 |
Klatskin's Tumor |
47 |
1074 |
|
PRS127 |
Pearson Marrow-Pancreas Syndrome |
45 |
1075 |
c
|
CHL134 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
45 |
1076 |
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
43 |
1077 |
|
TYL002 |
Tylosis with Esophageal Cancer |
28 |
1078 |
c
|
CHL118 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
27 |
1079 |
c
|
ALG016 |
Alagille Syndrome 2 |
26 |
1080 |
|
PRM288 |
Permanent Molars, Secondary Retention of |
23 |
1081 |
c
|
CHL091 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
22 |
1082 |
c
|
CHL143 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
21 |
1083 |
|
OST141 |
Osteoclastic Giant Cell Tumor of Pancreas |
13 |
1084 |
P
|
PNC035 |
Pancreatic Cancer |
89 |
1085 |
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
63 |
1086 |
|
SHW002 |
Shwachman-Diamond Syndrome |
63 |
1087 |
|
THY111 |
Thyroid Carcinoma, Familial Medullary |
63 |
1088 |
c
|
PNC103 |
Pancreatic Cancer 4 |
18 |
1089 |
c
|
PNC094 |
Pancreatic Cancer 1 |
16 |
1090 |
c
|
PNC095 |
Pancreatic Cancer 3 |
16 |
1091 |
c
|
PNC111 |
Pancreatic Cancer 2 |
14 |
1092 |
c
|
DPH025 |
Diaphragmatic Hernia 2 |
14 |
1093 |
c
|
DPH016 |
Diaphragmatic Hernia 3 |
12 |
1094 |
P
|
HRN027 |
Hernia, Anterior Diaphragmatic |
10 |