# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
36 |
78.012 |
|
2 |
|
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
69 |
69.269 |
|
3 |
|
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
48 |
50.143 |
|
4 |
|
P
|
ECT006 |
Ectodermal Dysplasia |
63 |
44.941 |
|
5 |
|
|
TTH002 |
Tooth Agenesis |
61 |
27.784 |
|
6 |
|
|
ECT070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
60 |
25.300 |
|
7 |
|
|
HRM022 |
Hair Morphology 1 |
11 |
25.174 |
|
8 |
|
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
54 |
19.912 |
|
9 |
|
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
62 |
16.989 |
|
10 |
|
|
MTC111 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
47 |
16.989 |
|
11 |
|
P
|
HYP087 |
Hypotrichosis |
42 |
15.249 |
|
12 |
|
|
ECT114 |
Ectodermal Dysplasia 10b |
18 |
13.131 |
|
13 |
|
|
ANH002 |
Anhidrosis |
46 |
12.274 |
|
14 |
|
|
INC021 |
Incontinentia Pigmenti |
63 |
11.217 |
|
15 |
|
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
39 |
10.700 |
|
16 |
|
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
36 |
10.008 |
|
17 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
74 |
9.978 |
|
18 |
|
|
SCH038 |
Schopf-Schulz-Passarge Syndrome |
51 |
9.015 |
|
19 |
|
c
|
ATS013 |
Autosomal Recessive Congenital Ichthyosis |
66 |
9.013 |
|
20 |
|
|
AND001 |
Anodontia |
43 |
8.847 |
|
21 |
|
c
|
ICH051 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
42 |
7.055 |
|
22 |
|
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
39 |
7.055 |
|
23 |
|
|
HYL004 |
Hyaline Fibromatosis Syndrome |
67 |
7.055 |
|
24 |
|
c
|
ORF016 |
Orofacial Cleft 8 |
41 |
7.055 |
|
25 |
|
c
|
RBN020 |
Robinow Syndrome, Autosomal Dominant 3 |
34 |
7.055 |
|
26 |
|
|
WTK002 |
Witkop Syndrome |
43 |
7.055 |
|
27 |
|
|
ANK017 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate |
46 |
7.055 |
|
28 |
|
|
PMP010 |
Pompholyx |
34 |
7.055 |
|
29 |
|
P
|
HRD018 |
Hair Disease |
44 |
7.055 |
|
30 |
|
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
7.055 |
|
31 |
|
|
SWT003 |
Sweat Gland Disease |
32 |
7.055 |
|
32 |
|
|
HRW001 |
Hair Whorl |
35 |
3.722 |
|
33 |
|
|
TTH032 |
Tooth Size |
35 |
3.334 |
|
34 |
|
|
INC028 |
Incisors, Shovel-Shaped |
10 |
3.299 |
|
35 |
|
|
ODN009 |
Odontoonychodermal Dysplasia |
34 |
3.197 |
|
36 |
|
|
DRM006 |
Dermatitis |
62 |
2.773 |
|
37 |
|
|
TTH030 |
Teeth, Supernumerary |
33 |
2.677 |
|
38 |
|
P
|
RHN004 |
Rhinitis |
57 |
2.577 |
|
39 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
2.471 |
|
40 |
|
P
|
MLN008 |
Melanoma |
76 |
2.471 |
|
41 |
|
|
ERY069 |
Erythrokeratoderma ''en Cocardes'' |
27 |
2.357 |
|
42 |
|
|
KRT009 |
Keratosis |
53 |
2.255 |
|
43 |
|
|
DYS073 |
Dysphagia |
53 |
2.055 |
|
44 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
1.957 |
|
45 |
|
|
ECT094 |
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type |
19 |
1.957 |
|
46 |
|
|
RRG043 |
Rare Genetic Skin Disease |
17 |
1.957 |
|
47 |
|
P
|
ALP008 |
Alopecia |
54 |
1.957 |
|
48 |
|
c
|
DWL002 |
Dowling-Degos Disease 1 |
58 |
1.791 |
|
49 |
|
|
PLY150 |
Polykaryocytosis Inducer |
29 |
1.791 |
|
50 |
|
|
ATM095 |
Autoimmune Disease |
61 |
1.791 |
|
51 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
1.791 |
|
52 |
|
|
RGN005 |
Regional Odontodysplasia |
23 |
1.791 |
|
53 |
|
P
|
SYS005 |
Systemic Scleroderma |
74 |
1.791 |
|
54 |
|
|
OTT002 |
Otitis Media |
71 |
1.753 |
|
55 |
|
|
NSP002 |
Nasopharyngitis |
45 |
1.753 |
|
56 |
|
|
TRD003 |
Taurodontism |
30 |
1.639 |
|
57 |
|
c
|
TTH013 |
Tooth Agenesis, Selective, 4 |
27 |
1.639 |
|
58 |
|
|
48X005 |
48,xyyy |
39 |
1.639 |
|
59 |
|
c
|
TTH025 |
Tooth Agenesis, Selective, 9 |
18 |
1.518 |
|
60 |
|
|
RCK004 |
Rickets |
68 |
1.386 |
|
61 |
|
|
MDD018 |
Middle East Respiratory Syndrome |
44 |
1.338 |
|
62 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
28 |
1.338 |
|
63 |
|
|
CHR048 |
Chronic Rhinitis |
46 |
1.338 |
|
64 |
|
c
|
ALB021 |
Albinism, Oculocutaneous, Type Ii |
59 |
1.239 |
|
65 |
|
|
ASP007 |
Aspiration Pneumonia |
49 |
1.239 |
|
66 |
|
P
|
OVR082 |
Overgrowth Syndrome |
49 |
1.073 |
|
67 |
|
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
61 |
1.073 |
|
68 |
|
|
DNT012 |
Dental Caries |
53 |
1.073 |
|
69 |
|
c
|
HRD202 |
Hereditary Lymphedema I |
49 |
1.073 |
|
70 |
|
P
|
OST001 |
Osteopetrosis |
71 |
1.073 |
|
71 |
|
|
ODN006 |
Odontoma |
29 |
1.073 |
|
72 |
|
P
|
ALZ034 |
Alzheimer Disease |
87 |
0.876 |
|
73 |
|
|
OLG005 |
Oligodontia-Colorectal Cancer Syndrome |
28 |
0.876 |
|
74 |
|
|
ATS010 |
Autosomal Recessive Disease |
42 |
0.876 |
|
75 |
|
|
MLD018 |
Mild Cognitive Impairment |
48 |
0.876 |
|
76 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
0.876 |
|
77 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
0.876 |
|
78 |
|
P
|
TRT010 |
Teratoma |
51 |
0.876 |
|
79 |
|
|
FBL008 |
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly |
43 |
0.620 |
|
80 |
|
|
PFF001 |
Pfeiffer Syndrome |
77 |
0.620 |
|
81 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
61 |
0.620 |
|
82 |
|
|
HYP798 |
Hypophosphatemic Rickets, X-Linked Recessive |
60 |
0.620 |
|
83 |
|
c
|
ATM006 |
Autoimmune Lymphoproliferative Syndrome |
75 |
0.620 |
|
84 |
|
|
EPC005 |
Epicanthus |
36 |
0.620 |
|
85 |
|
|
CYL004 |
Cylindromatosis, Familial |
35 |
0.620 |
|
86 |
|
P
|
OCL002 |
Oculocutaneous Albinism |
59 |
0.620 |
|
87 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.620 |
|
88 |
|
|
BNR002 |
Bone Resorption Disease |
47 |
0.620 |
|
89 |
|
P
|
LYM118 |
Lymphoma |
67 |
0.620 |
|
90 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
63 |
0.620 |
|
91 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.620 |
|
92 |
|
P
|
HRM021 |
Hair Morphology 2 |
20 |
0.620 |
|
93 |
|
|
BRK001 |
Brooke-Spiegler Syndrome |
58 |
0.620 |
|
94 |
|
|
WTT002 |
Witteveen-Kolk Syndrome |
34 |
0.620 |
|
95 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
0.620 |
|
96 |
|
|
PYC001 |
Pycnodysostosis |
55 |
0.620 |
|
97 |
|
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
54 |
0.620 |
|
98 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
64 |
0.620 |
|
99 |
|
|
PRD013 |
Periodic Fever, Familial, Autosomal Dominant |
68 |
0.620 |
|
100 |
|
|
ACH004 |
Achondroplasia |
66 |
0.620 |
|
101 |
|
P
|
TTH010 |
Tooth Agenesis, Selective, 1 |
30 |
0.620 |
|
102 |
|
P
|
SCL018 |
Scoliosis |
57 |
0.620 |
|
103 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.620 |
|
104 |
|
P
|
PRK039 |
Parkinsonism |
55 |
0.620 |
|
105 |
|
|
FTT001 |
Fatty Liver Disease |
62 |
0.620 |
|
106 |
|
P
|
SKN015 |
Skin Carcinoma |
71 |
0.620 |
|
107 |
|
|
CMM004 |
Common Variable Immunodeficiency |
72 |
0.620 |
|
108 |
|
P
|
HYP035 |
Hypophosphatasia |
62 |
0.620 |
|
109 |
|
P
|
MCR010 |
Microcephaly |
60 |
0.620 |
|
110 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
72 |
0.620 |
|
111 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
0.620 |
|
112 |
|
|
ALB002 |
Albinism |
47 |
0.620 |
|
113 |
|
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
38 |
0.620 |
|
114 |
|
|
DWR001 |
Dwarfism |
44 |
0.620 |
|
115 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.602 |
|
116 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.602 |
|
117 |
|
|
MLD001 |
Melioidosis |
67 |
0.470 |
|
118 |
|
|
CHR020 |
Chronic Interstitial Cystitis |
36 |
0.470 |
|