Search results for zic2

204 hits were found for zic2

# Family MCID Name MIFTS Score
1
P HLP001 Holoprosencephaly 69 52.103
2
c HLP028 Holoprosencephaly 5 47 51.523
3
NRL016 Neural Tube Defects 81 24.391
4
P MCR010 Microcephaly 60 17.663
5
c HLP023 Holoprosencephaly 1 56 17.562
6
SML028 Semilobar Holoprosencephaly 48 16.815
7
P MYP006 Myopia 56 12.041
8
RFR003 Refractive Error 41 12.041
9
c HLP026 Holoprosencephaly 3 48 10.778
10
c HLP024 Holoprosencephaly 2 49 10.317
11
c HLP029 Holoprosencephaly 4 43 10.176
12
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 44 10.155
13
LBR025 Lobar Holoprosencephaly 47 9.687
14
CLB010 Coloboma of Macula 53 9.606
15
RHM015 Rhombencephalosynapsis 29 8.898
16
ALB014 Alobar Holoprosencephaly 46 8.881
17
PTS001 Patau Syndrome 56 8.125
18
SLT005 Solitary Median Maxillary Central Incisor 49 7.973
19
MCR173 Microform Holoprosencephaly 44 7.903
20
SPT016 Septopreoptic Holoprosencephaly 36 7.903
21
CHR211 Chromosome 18p Deletion Syndrome 38 7.560
22
c HLP022 Holoprosencephaly 8 22 7.560
23
P PLL001 Pallister-Hall Syndrome 62 7.560
24
CNT097 Central Hypoventilation Syndrome, Congenital 70 6.995
25
c ORF040 Orofaciodigital Syndrome Viii 50 6.995
26
c HLP016 Holoprosencephaly 11 46 6.995
27
PHY002 Physical Disorder 41 6.995
28
P ORF002 Orofacial Cleft 43 6.995
29
HND004 Hand-Foot-Genital Syndrome 47 6.995
30
CLL036 Culler-Jones Syndrome 49 6.995
31
c HLP027 Holoprosencephaly 7 49 6.995
32
c HLP025 Holoprosencephaly 9 50 6.995
33
CLB003 Coloboma of Optic Nerve 41 6.995
34
P ACR093 Acrofrontofacionasal Dysostosis 25 6.995
35
c CNG031 Congenital Nervous System Abnormality 24 6.995
36
CRB034 Cerebral Hemisphere Lipoma 26 6.995
37
CNT024 Central Nervous System Lipoma 16 6.995
38
CRP003 Corpus Callosum Lipoma 32 6.995
39
P NSP012 Nasopharyngeal Carcinoma 61 5.140
40
P HPT023 Hepatocellular Carcinoma 96 3.314
41
c NNS019 Nonsyndromic Holoprosencephaly 16 3.247
42
CRV035 Cervical Cancer 73 3.141
43
P PRS040 Prostate Cancer 95 3.117
44
CRB209 Cerebellar Malformation 23 2.962
45
P PNC035 Pancreatic Cancer 86 2.882
46
OST159 Osteogenic Sarcoma 66 2.842
47
CLF001 Cleft Lip 53 2.799
48
P SCH015 Schizophrenia 74 2.712
49
P FRN036 Frontonasal Dysplasia 1 44 2.620
50
P OVR042 Ovarian Cancer 88 2.611
51
P LNG064 Lung Cancer Susceptibility 3 70 2.611
52
P ADN016 Adenocarcinoma 63 2.611
53
OVR094 Ovarian Epithelial Cancer 39 2.611
54
P BRS047 Breast Cancer 98 2.571
55
SPN035 Spindle Cell Sarcoma 54 2.528
56
SRC014 Sarcoma 65 2.528
57
SVR004 Severe Combined Immunodeficiency 72 2.528
58
KPS004 Kaposi Sarcoma 77 2.441
59
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.349
60
P DBT005 Diabetes Insipidus 54 2.252
61
HYP748 Hypertelorism 46 2.252
62
P HYP265 Hypotonia 42 2.252
63
MCR013 Microphthalmia 60 2.188
64
CLF004 Cleft Lip/palate 57 2.149
65
c LKM061 Leukemia, Acute Myeloid 83 2.149
66
P MYL006 Myeloid Leukemia 61 2.149
67
P LKM002 Leukemia 67 2.149
68
RTN123 Retinochoroidal Coloboma 18 2.149
69
c BRN108 Branchiootic Syndrome 1 62 2.038
70
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.957
71
CLR030 Clear Cell Renal Cell Carcinoma 54 1.957
72
ALB002 Albinism 47 1.957
73
CRP032 Corpus Callosum, Agenesis of 49 1.917
74
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 1.917
75
P HYP083 Hypopituitarism 52 1.917
76
P HYP086 Hypothyroidism 69 1.917
77
PTT009 Pituitary Gland Disease 53 1.917
78
CRN088 Craniorachischisis 35 1.917
79
HLX001 Helix Syndrome 48 1.787
80
P SPN237 Spina Bifida Aperta 19 1.784
81
SPS057 Spasticity 42 1.784
82
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 1.784
83
P JBR020 Joubert Syndrome 1 74 1.784
84
P MDL005 Medulloblastoma 75 1.784
85
GLB002 Glioblastoma 67 1.784
86
HYP264 Hypertonia 36 1.784
87
P BFD001 Bifid Nose 20 1.784
88
PRS129 Prostatic Hyperplasia, Benign 49 1.695
89
P BCL017 B-Cell Lymphoma 59 1.695
90
PRS021 Prostatic Adenoma 43 1.695
91
PRS045 Prostatic Hypertrophy 53 1.695
92
ARC025 Arachnoid Cysts, Intracranial 37 1.633
93
P ENC008 Encephalocele 46 1.633
94
EXN003 Exencephaly 30 1.633
95
ORL015 Oral Squamous Cell Carcinoma 43 1.598
96
SQM006 Squamous Cell Carcinoma 60 1.598
97
P LSS002 Lissencephaly 50 1.495
98
ISL109 Isolated Cleft Lip 33 1.453
99
ANN002 Anencephaly 57 1.453
100
FRY006 Fryns Microphthalmia Syndrome 52 1.453
101
CLF027 Cleft Palate, Isolated 64 1.453
102
CHR619 Chromosome 2q35 Duplication Syndrome 64 1.453
103
CLB026 Colobomatous Microphthalmia 46 1.453
104
HTR003 Heterotaxy 43 1.453
105
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 1.381
106
P BLD134 Bladder Cancer 79 1.219
107
ATL016 Atelencephaly 13 1.130
108
CHR178 Chromosomal Triplication 34 1.130
109
P MYM013 Moyamoya Disease 1 59 0.979
110
P CLR023 Colorectal Cancer 100 0.979
111
STN006 Steinfeld Syndrome 24 0.979
112
MNN043 Meningioma, Familial 79 0.979
113
P RNG032 Ring Chromosome 39 0.979
114
PRT185 Partial Deletion of the Long Arm of Chromosome 13 10 0.979
115
SCR001 Secretory Meningioma 40 0.979
116
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.979
117
P TCD001 Tic Disorder 49 0.979
118
SPN021 Spinal Meningioma 50 0.979
119
GRW007 Growth Hormone Deficiency 46 0.799
120
CBB005 Cobblestone Lissencephaly 31 0.799
121
DND001 Dandy-Walker Syndrome 49 0.799
122
P PRS049 Persistent Mullerian Duct Syndrome 52 0.799
123
P PLY006 Polydactyly 59 0.799
124
P GST053 Gastric Cancer 83 0.799
125
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.799
126
PSD046 Pseudotrisomy 13 Syndrome 28 0.799
127
47X002 47,xyy 48 0.799
128
HYP080 Hypogonadism 50 0.799
129
P CRB059 Cerebellar Degeneration 36 0.799
130
PRN032 Paraneoplastic Cerebellar Degeneration 25 0.799
131
c ERL020 Early-Onset Schizophrenia 44 0.565
132
SMT004 Smith-Lemli-Opitz Syndrome 70 0.565
133
c OPT051 Opitz Gbbb Syndrome, Type I 46 0.565
134
HLP032 Holoprosencephaly 13, X-Linked 22 0.565
135
DVL031 Developmental and Epileptic Encephalopathy 85 with or Without Midline Brain Defects 26 0.565
136
MLL023 Mullegama-Klein-Martinez Syndrome 29 0.565
137
SRC027 Sarcoma, Synovial 58 0.565
138
END057 Endometrial Cancer 72 0.565
139
P CNR004 Cone-Rod Dystrophy 2 74 0.565
140
P OCL001 Ocular Albinism 48 0.565
141
c ATS007 Autism Spectrum Disorder 72 0.565
142
HMN047 Human Cytomegalovirus Infection 57 0.565
143
P ADM011 Adams-Oliver Syndrome 58 0.565
144
P BRC006 Brachydactyly 51 0.565
145
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.565
146
c DPH024 Diaphragmatic Hernia, Congenital 64 0.565
147
c SPL067 Split-Hand/foot Malformation 1 46 0.565
148
HRT030 Hartsfield Syndrome 46 0.565
149
c KRT053 Keratoconus 7 18 0.565
150
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 27 0.565
151
CRN320 Cornelia De Lange Syndrome 3 with or Without Midline Brain Defects 40 0.565
152
c WLM013 Wilms Tumor 1 66 0.565
153
P SCL057 Scoliosis, Isolated 1 40 0.565
154
OLV002 Oliver Syndrome 41 0.565
155
c TYP009 Type 2 Diabetes Mellitus 92 0.565
156
ESP021 Esophageal Cancer 83 0.565
157
CHL065 Cholangiocarcinoma 58 0.565
158
P SCL018 Scoliosis 57 0.565
159
LBR036 Leber Plus Disease 66 0.565
160
P SPL061 Split Hand-Foot Malformation 43 0.565
161
P NRB001 Neuroblastoma 66 0.565
162
HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 38 0.565
163
ISL121 Isolated Split Hand-Split Foot Malformation 41 0.565
164
P VNT002 Ventricular Septal Defect 58 0.565
165
HRT011 Heart Septal Defect 49 0.565
166
P SKN015 Skin Carcinoma 71 0.565
167
P BRN006 Branchiootorenal Syndrome 50 0.565
168
P RTN016 Retinal Degeneration 52 0.565
169
P CRN321 Cornelia De Lange Syndrome 4 with or Without Midline Brain Defects 41 0.565
170
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.565
171
P KRT007 Keratoconus 50 0.565
172
P MLN008 Melanoma 76 0.565
173
ALT003 Alternating Exotropia 33 0.565
174
P HYD006 Hydrocephalus 61 0.565
175
P HYP040 Hypospadias 51 0.565
176
INT030 Intracranial Aneurysm 55 0.565
177
P CRN015 Cornelia De Lange Syndrome 67 0.565
178
EXT022 Exotropia 42 0.565
179
INT079 Intrahepatic Cholangiocarcinoma 51 0.565
180
P PTS002 Ptosis 52 0.565
181
IDP070 Idiopathic Scoliosis 42 0.565
182
DGN002 Degenerative Myopia 31 0.565
183
c RNG008 Ring Chromosome 13 30 0.565
184
ANR040 Aneurysm 61 0.565
185
CLB009 Coloboma of Iris 25 0.565
186
c FML094 Familial Wilms Tumor 2 25 0.565
187
PNS014 Penis Agenesis 36 0.565
188
P HRS035 Hirschsprung Disease 1 66 0.533
189
MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 35 0.533
190
IRN008 Iron Overload in Africa 51 0.400
191
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.400
192
HPT079 Hepatoid Adenocarcinoma 39 0.400
193
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.400
194
RJS001 Ruijs-Aalfs Syndrome 47 0.400
195
c HPT073 Hepatitis C Virus 71 0.400
196
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 0.400
197
PDT042 Pediatric Hepatocellular Carcinoma 49 0.400
198
SKN022 Skin Squamous Cell Carcinoma 54 0.400
199
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.400
200
ADL096 Adult Hepatocellular Carcinoma 60 0.400
201
FBR086 Fibrolamellar Carcinoma 59 0.400
202
HPT011 Hepatocellular Clear Cell Carcinoma 46 0.400
203
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 0.400
204
PTY007 Pityriasis Rotunda 26 0.400
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