Search results for dlx5

225 hits were found for dlx5

# Family MCID Name MIFTS Score
1
SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 33 38.324
2
c SPL067 Split-Hand/foot Malformation 1 46 35.545
3
ISL121 Isolated Split Hand-Split Foot Malformation 42 20.418
4
P SPL061 Split Hand-Foot Malformation 42 19.139
5
P RTT002 Rett Syndrome 79 16.842
6
P SNS001 Sensorineural Hearing Loss 59 15.895
7
CLF027 Cleft Palate, Isolated 64 11.436
8
P ATS364 Autism 72 11.404
9
RPP001 Rapp-Hodgkin Syndrome 43 11.147
10
CHR619 Chromosome 2q35 Duplication Syndrome 64 8.878
11
P KLL001 Kallmann Syndrome 65 8.223
12
c SPL070 Split-Hand/foot Malformation 2 32 8.098
13
c SPL034 Split-Hand/foot Malformation 4 38 7.528
14
c SPL033 Split-Hand/foot Malformation 6 37 7.387
15
c SPL024 Split-Hand/foot Malformation 3 44 7.387
16
c SPL025 Split-Hand/foot Malformation 5 29 7.387
17
P ORF002 Orofacial Cleft 42 7.387
18
P CLD001 Cleidocranial Dysplasia 64 7.331
19
TTH002 Tooth Agenesis 61 7.331
20
AGN012 Agnathia-Otocephaly Complex 52 7.195
21
c ORF016 Orofacial Cleft 8 41 7.195
22
TRC118 Trichodentoosseous Syndrome 42 7.195
23
ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 43 7.195
24
ODN023 Odontochondrodysplasia 70 7.195
25
DSS008 Disease of Mental Health 74 7.195
26
P BND014 Bone Development Disease 33 7.195
27
P BRN006 Branchiootorenal Syndrome 50 7.195
28
FBR013 Fibrosarcomatous Osteosarcoma 30 7.195
29
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 2.395
30
EXN003 Exencephaly 30 2.080
31
BNR002 Bone Resorption Disease 47 1.863
32
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 1.749
33
CLF001 Cleft Lip 54 1.596
34
P CRN037 Craniosynostosis 67 1.521
35
CLF004 Cleft Lip/palate 57 1.453
36
P ECT006 Ectodermal Dysplasia 62 1.415
37
c PRC016 Pre-Eclampsia 64 1.374
38
P END044 Endometriosis 62 1.305
39
P BND020 Bone Disease 60 1.212
40
P OST002 Osteoporosis 77 1.139
41
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.139
42
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.139
43
P ADN016 Adenocarcinoma 63 1.139
44
MYL009 Myelodysplastic Syndrome 67 1.098
45
c LKM061 Leukemia, Acute Myeloid 83 1.098
46
P OVR042 Ovarian Cancer 88 1.076
47
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.076
48
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.076
49
c ACT073 Acute Leukemia 59 1.076
50
URM002 Uremia 47 1.076
51
MCP054 Mecp2 Disorders 16 1.076
52
ANK017 Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate 45 1.052
53
c SML038 Small Cell Cancer of the Lung 69 1.052
54
NRL016 Neural Tube Defects 81 1.052
55
P LNG032 Lung Cancer 98 1.027
56
P ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 51 1.027
57
P PRD008 Periodontitis 64 1.027
58
P OVR082 Overgrowth Syndrome 42 1.027
59
AGN016 Aging 54 1.001
61
P MCR010 Microcephaly 59 0.972
62
HLX001 Helix Syndrome 47 0.940
63
OST012 Osteoarthritis 77 0.940
64
OST003 Osteonecrosis 61 0.903
65
MCR013 Microphthalmia 60 0.903
66
ART074 Aortic Dissection 53 0.903
67
c CRN277 Craniosynostosis 2 37 0.903
68
c ART101 Aortic Valve Disease 2 65 0.903
69
PRN010 Paranoid Personality Disorder 26 0.903
70
P PRS038 Personality Disorder 65 0.903
71
P ART018 Aortic Valve Insufficiency 52 0.903
72
P ORT004 Orthostatic Intolerance 62 0.903
73
HRT012 Heart Valve Disease 53 0.903
74
SQM013 Squamous Cell Carcinoma, Head and Neck 75 0.870
75
P CLR023 Colorectal Cancer 100 0.860
76
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.860
77
OST115 Osteonecrosis of the Jaw 40 0.860
78
WLL001 Williams-Beuren Syndrome 60 0.804
79
EMB004 Embryonal Carcinoma 55 0.804
80
P PRS040 Prostate Cancer 95 0.551
81
P BRS047 Breast Cancer 97 0.551
82
P DYS193 Dystonia 11, Myoclonic 55 0.551
83
P PNC035 Pancreatic Cancer 86 0.551
84
P HYP040 Hypospadias 51 0.471
85
PNS014 Penis Agenesis 38 0.430
86
P SCL048 Sclerosteosis 58 0.385
87
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.360
88
ORF053 Orofacial Clefting Syndrome 31 0.360
89
INS024 Insulin-Like Growth Factor I 77 0.333
90
P EPL164 Epilepsy 70 0.333
91
OST159 Osteogenic Sarcoma 66 0.304
92
P PRR016 Pierre Robin Syndrome 50 0.272
94
CRP033 Corpus Callosum, Agenesis of, with Abnormal Genitalia 39 0.272
95
LSS037 Lissencephaly, X-Linked, 2 39 0.272
96
WST001 West Syndrome 64 0.272
97
ERM002 Ear Malformation 35 0.272
98
P NNS032 Non-Syndromic X-Linked Intellectual Disability 46 0.272
99
ISL075 Isolated Pierre Robin Sequence 29 0.272
101
P SCH015 Schizophrenia 74 0.235
102
FRY006 Fryns Microphthalmia Syndrome 52 0.235
103
c ORF047 Orofacial Cleft 15 24 0.235
104
c ARC011 Auriculocondylar Syndrome 2 28 0.235
105
P ARC016 Auriculocondylar Syndrome 1 38 0.235
106
P MCR364 Macrodactyly 41 0.235
107
P PRD006 Prader-Willi Syndrome 60 0.235
108
P LSS002 Lissencephaly 53 0.235
109
GLB002 Glioblastoma 67 0.235
110
ANK001 Ankylosis 51 0.235
111
HYP080 Hypogonadism 49 0.235
112
P PLY006 Polydactyly 58 0.235
113
P NRB001 Neuroblastoma 66 0.235
114
ARC008 Auriculo-Condylar Syndrome 43 0.235
115
ADL002 Adult Syndrome 69 0.192
116
ERL051 Early Response to Neural Induction Gene 8 0.192
117
P HYP730 Hypogonadotropic Hypogonadism 54 0.192
118
CRB004 Cerebral Artery Occlusion 46 0.192
119
ALC007 Alcohol Dependence 65 0.192
120
c TYP008 Type 1 Diabetes Mellitus 77 0.192
121
c ATS007 Autism Spectrum Disorder 72 0.192
122
ANN002 Anencephaly 57 0.192
123
HND004 Hand-Foot-Genital Syndrome 47 0.192
124
P HPT023 Hepatocellular Carcinoma 95 0.192
125
ISC004 Ischemia 61 0.192
126
P DYS154 Dystonia 64 0.192
127
P HYP069 Hyperparathyroidism 62 0.192
128
P HYP086 Hypothyroidism 69 0.192
129
LMB008 Limb-Mammary Syndrome 33 0.192
130
SCN061 Scn8a Encephalopathy 18 0.192
131
c PRM212 Primary Microcephaly 40 0.192
132
GLM045 Glioma 62 0.192
133
P ENC018 Encephalopathy 62 0.192
134
GLL048 Glial Tumor 52 0.192
135
P SZR006 Seizure Disorder 69 0.192
136
P RBL001 Rubella 58 0.192
137
48X005 48,xyyy 39 0.192
138
P ENC008 Encephalocele 46 0.192
139
PLG004 Plagiocephaly 40 0.192
140
P ALZ034 Alzheimer Disease 87 0.136
141
c RTN150 Retinitis Pigmentosa 10 44 0.136
142
P RTN024 Retinoblastoma 72 0.136
143
MYL069 Myeloma, Multiple 77 0.136
144
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.136
145
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.136
146
c BRN108 Branchiootic Syndrome 1 63 0.136
147
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.136
148
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.136
149
P LKM062 Leukemia, Acute Lymphoblastic 69 0.136
150
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 0.136
151
TND004 Tendinopathy 45 0.136
152
TND005 Tendinitis 54 0.136
153
c PRM192 Premature Ovarian Failure 8 22 0.136
154
HMN047 Human Cytomegalovirus Infection 59 0.136
155
P OPN001 Open-Angle Glaucoma 55 0.136
156
PRM013 Premature Menopause 57 0.136
157
ACR058 Acrofacial Dysostosis 1, Nager Type 49 0.136
158
PLY150 Polykaryocytosis Inducer 29 0.136
159
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.136
160
P PRV006 Pervasive Developmental Disorder 52 0.136
161
P BRN042 Branchiootic Syndrome 34 0.136
162
ACR017 Acrofacial Dysostosis 30 0.136
163
SGM008 Segmental Dystonia 28 0.136
164
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.136
165
c BRN128 Branchiootic Syndrome 3 28 0.136
166
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.136
167
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.136
168
BRT054 Brittle Bone Disorder 74 0.136
169
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.136
170
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.136
171
INT051 Intussusception 53 0.136
172
P SYN075 Syngnathia 42 0.136
173
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47 0.136
174
P FRN036 Frontonasal Dysplasia 1 43 0.136
175
P ANG001 Angelman Syndrome 65 0.136
176
c MST023 Mesothelioma, Malignant 56 0.136
177
c NRF024 Neurofibromatosis, Type I 76 0.136
178
HMF006 Hemifacial Microsomia 55 0.136
179
P NNN008 Noonan Syndrome 1 76 0.136
180
P CRB048 Cerebral Cavernous Malformations 63 0.136
181
c SCL052 Scleroderma, Familial Progressive 60 0.136
182
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.136
183
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.136
184
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.136
185
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29 0.136
186
c GLC092 Glaucoma, Primary Open Angle 61 0.136
187
DYS018 Dysostosis 43 0.136
188
P BRC006 Brachydactyly 52 0.136
189
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.136
190
P INF032 Infertility 60 0.136
191
SVR004 Severe Combined Immunodeficiency 71 0.136
192
PRT037 Pertussis 49 0.136
193
P MLN008 Melanoma 75 0.136
194
P ECL001 Eclampsia 52 0.136
195
P AGG001 Aggressive Periodontitis 55 0.136
196
P HYD006 Hydrocephalus 63 0.136
197
HMS001 Hemosiderosis 48 0.136
198
P LKM002 Leukemia 66 0.136
199
ERL001 Early Myoclonic Encephalopathy 63 0.136
200
GNG012 Gingival Overgrowth 49 0.136
201
c SCN007 Secondary Hyperparathyroidism 51 0.136
202
FCL014 Focal Epilepsy 53 0.136
203
P BNG032 Benign Mesothelioma 53 0.136
204
MDD011 Mood Disorder 62 0.136
205
AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 37 0.136
206
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.136
207
P CHR345 Chronic Pain 50 0.136
208
P MYC033 Myoclonus 46 0.136
209
HYP266 Hypoxia 56 0.136
210
SPS057 Spasticity 43 0.136
211
PLC007 Placental Abruption 47 0.136
212
P HLP001 Holoprosencephaly 69 0.136
213
MNC006 Monoclonal Gammopathy of Uncertain Significance 48 0.136
214
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 20 0.136
215
SGC002 Sgce Myoclonus-Dystonia 23 0.136
216
47X002 47,xyy 48 0.136
217
P NRF002 Neurofibromatosis 60 0.136
218
CNG069 Congenital Cytomegalovirus 51 0.136
219
c PSD047 Pseudo-Turner Syndrome 52 0.136
220
FCL090 Facial Cleft 30 0.136
221
CNG284 Congenital Pseudoarthrosis of the Tibia 17 0.136
222
NRN046 Neuronal Tumor 19 0.136
223
P RRH023 Rare Hereditary Hemochromatosis 53 0.136
224
CMB094 Combined Dystonia 13 0.136
225
RNL078 Renal Dysplasia 46 0.136
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