# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
36 |
9.599 |
|
2 |
|
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
68 |
6.968 |
|
3 |
|
|
ECT061 |
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant |
48 |
6.266 |
|
4 |
|
P
|
ECT006 |
Ectodermal Dysplasia |
62 |
5.713 |
|
5 |
|
c
|
HRM022 |
Hair Morphology 1 |
11 |
3.776 |
|
6 |
|
c
|
ECT114 |
Ectodermal Dysplasia 10b |
18 |
3.130 |
|
7 |
|
|
TTH002 |
Tooth Agenesis |
60 |
2.748 |
|
8 |
|
P
|
HYP087 |
Hypotrichosis |
42 |
2.670 |
|
9 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
73 |
2.525 |
|
10 |
|
|
INC021 |
Incontinentia Pigmenti |
63 |
2.525 |
|
11 |
|
|
ANH002 |
Anhidrosis |
47 |
1.989 |
|
12 |
|
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
51 |
1.959 |
|
13 |
|
|
ECT070 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
60 |
1.888 |
|
14 |
|
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
43 |
1.888 |
|
15 |
|
c
|
ATS013 |
Autosomal Recessive Congenital Ichthyosis |
63 |
1.844 |
|
16 |
|
|
AND001 |
Anodontia |
43 |
1.844 |
|
17 |
|
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
37 |
1.844 |
|
18 |
|
|
HYL004 |
Hyaline Fibromatosis Syndrome |
67 |
1.785 |
|
19 |
|
|
CLS005 |
Clouston Syndrome |
58 |
1.785 |
|
20 |
|
|
SCH038 |
Schopf-Schulz-Passarge Syndrome |
55 |
1.785 |
|
21 |
|
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
1.785 |
|
22 |
|
|
ANK017 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate |
46 |
1.785 |
|
23 |
|
|
WTK002 |
Witkop Syndrome |
44 |
1.785 |
|
24 |
|
c
|
ICH051 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
43 |
1.785 |
|
25 |
|
P
|
HRD018 |
Hair Disease |
43 |
1.785 |
|
26 |
|
c
|
ORF016 |
Orofacial Cleft 8 |
39 |
1.785 |
|
27 |
|
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
39 |
1.785 |
|
28 |
|
|
PMP010 |
Pompholyx |
37 |
1.785 |
|
29 |
|
c
|
RBN020 |
Robinow Syndrome, Autosomal Dominant 3 |
35 |
1.785 |
|
30 |
|
|
SWT003 |
Sweat Gland Disease |
34 |
1.785 |
|
31 |
|
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
59 |
0.140 |
|
32 |
|
|
HRW001 |
Hair Whorl |
36 |
0.122 |
|
33 |
|
|
INC028 |
Incisors, Shovel-Shaped |
10 |
0.122 |
|
34 |
|
|
KRT009 |
Keratosis |
51 |
0.099 |
|
35 |
|
|
TTH032 |
Tooth Size |
36 |
0.099 |
|
36 |
|
P
|
MLN008 |
Melanoma |
69 |
0.070 |
|
37 |
|
|
MLD001 |
Melioidosis |
68 |
0.070 |
|
38 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
0.070 |
|
39 |
|
|
DRM006 |
Dermatitis |
61 |
0.070 |
|
40 |
|
c
|
DWL002 |
Dowling-Degos Disease 1 |
58 |
0.070 |
|
41 |
|
P
|
RHN004 |
Rhinitis |
57 |
0.070 |
|
42 |
|
P
|
ALP008 |
Alopecia |
54 |
0.070 |
|
43 |
|
c
|
MLN055 |
Melanoma, Cutaneous Malignant 10 |
52 |
0.070 |
|
44 |
|
c
|
CHR048 |
Chronic Rhinitis |
46 |
0.070 |
|
45 |
|
|
MDD018 |
Middle East Respiratory Syndrome |
43 |
0.070 |
|
46 |
|
c
|
CHR020 |
Chronic Interstitial Cystitis |
37 |
0.070 |
|
47 |
|
|
ODN009 |
Odontoonychodermal Dysplasia |
34 |
0.070 |
|
48 |
|
|
TTH030 |
Teeth, Supernumerary |
33 |
0.070 |
|
49 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.070 |
|
50 |
|
|
ERY069 |
Erythrokeratoderma ''en Cocardes'' |
30 |
0.070 |
|
51 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
0.070 |
|
52 |
|
|
RGN005 |
Regional Odontodysplasia |
25 |
0.070 |
|
53 |
|
|
RRG043 |
Rare Genetic Skin Disease |
22 |
0.070 |
|
54 |
|
|
ECT094 |
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type |
21 |
0.070 |
|