# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
CRN048 |
Craniofacial-Deafness-Hand Syndrome |
52 |
8.535 |
|
2 |
|
|
SCB001 |
Scabies |
50 |
4.220 |
|
3 |
|
|
48X005 |
48,xyyy |
39 |
4.161 |
|
4 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
28 |
3.485 |
|
5 |
|
|
INS023 |
Insensitivity to Pain, Congenital, with Anhidrosis |
57 |
3.282 |
|
6 |
|
|
DRM006 |
Dermatitis |
62 |
3.037 |
|
7 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
2.901 |
|
8 |
|
c
|
GLC079 |
Glaucoma 1, Open Angle, P |
23 |
2.847 |
|
9 |
|
|
CRH001 |
Crohn's Disease |
80 |
2.816 |
|
10 |
|
|
CLT003 |
Colitis |
63 |
2.728 |
|
11 |
|
c
|
DRM040 |
Dermatitis Herpetiformis, Familial |
35 |
2.436 |
|
12 |
|
|
CHR100 |
Chronic Ulcer of Skin |
57 |
2.436 |
|
13 |
|
P
|
DRM007 |
Dermatitis Herpetiformis |
54 |
2.436 |
|
14 |
|
|
BRS108 |
Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 |
23 |
2.391 |
|
15 |
|
P
|
CLC063 |
Celiac Disease 1 |
66 |
2.327 |
|
16 |
|
|
CRY005 |
Cryptococcosis |
60 |
2.327 |
|
17 |
|
|
DPH001 |
Diphtheria |
59 |
2.327 |
|
18 |
|
|
STN013 |
Stenotrophomonas Maltophilia Infection |
26 |
2.210 |
|
19 |
|
c
|
THY056 |
Thyroid Dyshormonogenesis 3 |
31 |
2.082 |
|
20 |
|
|
DNT012 |
Dental Caries |
53 |
2.082 |
|
21 |
|
|
GST050 |
Gastrointestinal System Disease |
55 |
2.082 |
|
22 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
2.071 |
|
23 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
43 |
2.071 |
|
24 |
|
|
FDL002 |
Food Allergy |
47 |
1.591 |
|
25 |
|
|
GRD001 |
Giardiasis |
46 |
1.591 |
|
26 |
|
P
|
ART021 |
Arteriosclerosis |
54 |
1.591 |
|
27 |
|
|
IRR002 |
Irritable Bowel Syndrome |
65 |
1.591 |
|
28 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
1.582 |
|
29 |
|
|
ULC004 |
Ulcerative Colitis |
74 |
1.582 |
|
30 |
|
|
BCT004 |
Bacteriuria |
47 |
1.465 |
|
31 |
|
|
LMN005 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
28 |
1.343 |
|
32 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
1.343 |
|
33 |
|
|
CRT011 |
Carotenemia |
23 |
1.343 |
|
34 |
|
|
CHL014 |
Cholera |
62 |
1.337 |
|
35 |
|
P
|
OVR082 |
Overgrowth Syndrome |
49 |
1.196 |
|
36 |
|
|
MTH071 |
Methane Production |
25 |
1.196 |
|
37 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
53 |
1.196 |
|
38 |
|
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
73 |
1.196 |
|
39 |
|
P
|
PSR002 |
Psoriasis |
63 |
1.196 |
|
40 |
|
|
SKN016 |
Skin Disease |
63 |
1.196 |
|
41 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
1.196 |
|
42 |
|
|
ANX004 |
Anoxia |
40 |
1.036 |
|
43 |
|
|
CYS001 |
Cystic Fibrosis |
78 |
1.036 |
|
44 |
|
c
|
INF084 |
Inflammatory Bowel Disease 26 |
19 |
1.036 |
|
45 |
|
|
HRW001 |
Hair Whorl |
35 |
1.036 |
|
46 |
|
P
|
KDN018 |
Kidney Disease |
72 |
1.036 |
|
47 |
|
|
47X002 |
47,xyy |
48 |
1.036 |
|
48 |
|
P
|
NTR004 |
Neutropenia |
63 |
1.036 |
|
49 |
|
|
CNS004 |
Constipation |
56 |
1.036 |
|
50 |
|
|
GST045 |
Gastroenteritis |
58 |
1.036 |
|
51 |
|
|
BNG077 |
Benign Idiopathic Neonatal Seizures |
23 |
0.846 |
|
52 |
|
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
0.846 |
|
53 |
|
c
|
SPN225 |
Spondyloarthropathy 1 |
70 |
0.846 |
|
54 |
|
|
GST092 |
Gastroesophageal Reflux |
61 |
0.846 |
|
55 |
|
P
|
ANP001 |
Anaplastic Large Cell Lymphoma |
61 |
0.846 |
|
56 |
|
|
IGR001 |
Ige Responsiveness, Atopic |
59 |
0.846 |
|
57 |
|
c
|
HNT011 |
Huntington Disease-Like 3 |
34 |
0.846 |
|
58 |
|
|
PNG002 |
Pain Agnosia |
51 |
0.846 |
|
59 |
|
|
HPT004 |
Hepatic Coma |
43 |
0.846 |
|
60 |
|
P
|
SYS005 |
Systemic Scleroderma |
74 |
0.846 |
|
61 |
|
|
SPN051 |
Spondylitis |
51 |
0.846 |
|
62 |
|
|
MLK006 |
Milk Allergy |
47 |
0.846 |
|
63 |
|
|
INF009 |
Inflammatory Spondylopathy |
30 |
0.846 |
|
64 |
|
|
HPT019 |
Hepatic Encephalopathy |
59 |
0.846 |
|
65 |
|
|
DMP001 |
Dumping Syndrome |
43 |
0.846 |
|
66 |
|
|
PLG002 |
Plague |
58 |
0.846 |
|
67 |
|
|
LST001 |
Listeriosis |
59 |
0.846 |
|
68 |
|
|
DSS012 |
Disseminated Infection with Mycobacterium Avium Complex |
19 |
0.846 |
|
69 |
|
|
PCH007 |
Pouchitis |
42 |
0.598 |
|
70 |
|
|
STC004 |
Stachybotrys Chartarum |
33 |
0.598 |
|
71 |
|
|
TNG002 |
Tangier Disease |
64 |
0.598 |
|
72 |
|
|
AGN016 |
Aging |
54 |
0.598 |
|
73 |
|
P
|
DRM053 |
Dermatitis, Atopic |
65 |
0.598 |
|
74 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
34 |
0.598 |
|
75 |
|
|
PLY150 |
Polykaryocytosis Inducer |
29 |
0.598 |
|
76 |
|
|
ATM095 |
Autoimmune Disease |
61 |
0.598 |
|
77 |
|
|
BRK010 |
Burkitt Lymphoma |
66 |
0.598 |
|
78 |
|
|
INF034 |
Infective Endocarditis |
54 |
0.598 |
|
79 |
|
P
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
52 |
0.598 |
|
80 |
|
P
|
SML001 |
Small Cell Carcinoma |
52 |
0.598 |
|
81 |
|
c
|
THY071 |
Thyroid Dyshormonogenesis 1 |
31 |
0.598 |
|
82 |
|
c
|
HNT010 |
Huntington Disease-Like 1 |
55 |
0.598 |
|
83 |
|
c
|
HNT004 |
Huntington Disease-Like 2 |
52 |
0.598 |
|
84 |
|
|
LCT011 |
Lactose Intolerance, Adult Type |
25 |
0.598 |
|
85 |
|
|
SCH038 |
Schopf-Schulz-Passarge Syndrome |
51 |
0.598 |
|
86 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
0.598 |
|
87 |
|
|
DGR001 |
Digeorge Syndrome |
62 |
0.598 |
|
88 |
|
P
|
HYP750 |
Hypertriglyceridemia, Familial |
62 |
0.598 |
|
89 |
|
|
THY064 |
Thyroid Hormone Metabolism, Abnormal |
28 |
0.598 |
|
90 |
|
|
LNG105 |
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome |
35 |
0.598 |
|
91 |
|
|
DSS032 |
Disease by Infectious Agent |
55 |
0.598 |
|
92 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.598 |
|
93 |
|
|
ARG004 |
Argyria |
26 |
0.598 |
|
94 |
|
|
PRT019 |
Protein-Losing Enteropathy |
45 |
0.598 |
|
95 |
|
|
HPT022 |
Hepatoblastoma |
54 |
0.598 |
|
96 |
|
|
IGG001 |
Iga Glomerulonephritis |
50 |
0.598 |
|
97 |
|
|
CHL067 |
Cholecystitis |
60 |
0.598 |
|
98 |
|
|
MTH009 |
Mouth Disease |
57 |
0.598 |
|
99 |
|
|
VGN019 |
Vaginal Discharge |
47 |
0.598 |
|
100 |
|
|
PRT036 |
Peritonitis |
65 |
0.598 |
|
101 |
|
|
ACT055 |
Actinomycosis |
55 |
0.598 |
|
102 |
|
|
HLX001 |
Helix Syndrome |
48 |
0.598 |
|
103 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
0.598 |
|
104 |
|
|
SPR020 |
Superficial Mycosis |
34 |
0.598 |
|
105 |
|
|
PLC002 |
Plica Syndrome |
35 |
0.598 |
|
106 |
|
P
|
ESP024 |
Esophagitis |
60 |
0.598 |
|
107 |
|
c
|
ACT068 |
Acute Cystitis |
61 |
0.598 |
|
108 |
|
P
|
MLN008 |
Melanoma |
76 |
0.598 |
|
109 |
|
P
|
END033 |
Endocarditis |
58 |
0.598 |
|
110 |
|
P
|
INT068 |
Intestinal Disease |
53 |
0.598 |
|
111 |
|
|
SPT004 |
Septic Arthritis |
58 |
0.598 |
|
112 |
|
|
SYN007 |
Synovitis |
55 |
0.598 |
|
113 |
|
P
|
BNG032 |
Benign Mesothelioma |
53 |
0.598 |
|
114 |
|
|
TYP007 |
Typhoid Fever |
64 |
0.598 |
|
115 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.598 |
|
116 |
|
|
CRB037 |
Cerebral Palsy |
67 |
0.598 |
|
117 |
|
|
VBR003 |
Vibrio Vulnificus Infection |
20 |
0.598 |
|
118 |
|
|
CND006 |
Candida Glabrata |
30 |
0.598 |
|
119 |
|
|
HMP009 |
Haemophilus Influenzae |
41 |
0.598 |
|
120 |
|
|
PYT001 |
Pythiosis |
18 |
0.598 |
|
121 |
|
|
HVY002 |
Heavy Metal Poisoning |
22 |
0.598 |
|
122 |
|
|
DWR001 |
Dwarfism |
44 |
0.598 |
|