Search results for edar

118 hits were found for edar

# 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
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