Search results for "microphthalmia cataract"

The MalaCard for "microphthalmia cataract" has been retired.
Searching MalaCards for entries containing "microphthalmia cataract"

232 hits were found for 'microphthalmia cataract'

# Family MCID Name MIFTS Score
1
c MCR261 Microphthalmia, Syndromic 2 33 4.674
2
c CTR134 Cataract 23 28 3.788
3
c CTR113 Cataract 11, Multiple Types 29 3.579
4
P MCR136 Microphthalmia with Coloboma 3 20 3.472
5
CTR019 Cataract, Congenital, with Microcornea or Slight Microphthalmia 7 3.217
6
MCR121 Microphthalmia with Cataract 1 5 3.019
7
MCR052 Microcephaly Microcornea Syndrome Seemanova Type 16 1.774
8
P CTR002 Cataract 57 0.831
9
MCR013 Microphthalmia 59 0.656
10
EYD002 Eye Disease 63 0.245
11
ETH011 Ethylmalonic Encephalopathy 59 0.239
12
RTN023 Retinitis 49 0.212
13
AYM001 Ayme-Gripp Syndrome 45 0.210
14
c MCR263 Microphthalmia, Syndromic 1 34 0.182
15
GLB003 Globe Disease 35 0.180
16
AND005 Androgen Insensitivity Syndrome, Mild 16 0.177
17
ALR002 Al-Raqad Syndrome 36 0.166
18
HPT074 Hepatic Adenoma, Somatic 51 0.164
19
HNM002 Hinman Syndrome 25 0.163
20
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38 0.160
21
P MCR010 Microcephaly 58 0.147
22
P ANP022 Anophthalmia/microphthalmia 30 0.144
23
c MCR251 Microphthalmia, Syndromic 6 28 0.130
24
c MCR137 Microphthalmia, Isolated 2 27 0.125
25
CHR008 Choroiditis 43 0.125
26
ANR002 Aniridia 60 0.120
27
c CTR130 Cataract 9, Multiple Types 37 0.119
28
c MCR122 Microphthalmia, Isolated 5 25 0.118
29
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.117
30
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.115
31
P MYP006 Myopia 59 0.114
32
P ISL020 Isolated Microphthalmia 25 0.113
33
c MCR252 Microphthalmia, Syndromic 5 26 0.113
34
P INT063 Intellectual Disability 53 0.109
35
NNC002 Nance-Horan Syndrome 36 0.107
36
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.100
37
ARH003 Arhinia, Choanal Atresia, and Microphthalmia 17 0.099
38
RTN017 Retinal Detachment 57 0.093
39
c LKD009 Leukodystrophy, Hypomyelinating, 5 37 0.093
40
CNG041 Congenital Cataracts, Facial Dysmorphism, and Neuropathy 28 0.093
41
TTR016 Tetra-Amelia Syndrome 36 0.087
42
P RTN016 Retinal Degeneration 54 0.087
43
P HLL001 Hallermann-Streiff Syndrome 53 0.087
44
CRB009 Cerebritis 38 0.085
45
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.085
46
HYP080 Hypogonadism 54 0.085
47
KRT004 Keratitis 70 0.083
48
SPS057 Spasticity 42 0.083
49
LWS003 Lowe Syndrome 61 0.081
50
P ESP024 Esophagitis 62 0.080
51
P RTN008 Retinitis Pigmentosa 79 0.079
52
CTR135 Cataract 40, X-Linked 22 0.079
53
P RTN024 Retinoblastoma 75 0.077
54
P WRB002 Warburg Micro Syndrome 1 37 0.077
55
ADP007 Adie Pupil 34 0.077
56
P PRS062 Persistent Hyperplastic Primary Vitreous 37 0.075
57
CRN230 Corneal Opacification and Other Ocular Anomalies 21 0.072
58
ALB002 Albinism 43 0.071
59
P HRT032 Heart Disease 76 0.069
60
CRB045 Cerebellar Hypoplasia 48 0.069
61
P MSC005 Muscular Dystrophy 64 0.068
62
HYP064 Hypogonadotropism 38 0.067
63
P HYP265 Hypotonia 39 0.066
64
OCL048 Oculoauricular Syndrome 27 0.066
65
GLC006 Galactosemia 67 0.066
66
P OCL013 Oculodentodigital Dysplasia 59 0.066
67
BRN003 Branchiooculofacial Syndrome 40 0.066
68
P CRD011 Cardiomyopathy 67 0.066
69
c PND001 Pain Disorder 55 0.064
70
c CNG124 Congenital Rubella 40 0.064
71
P RFS001 Refsum Disease 62 0.064
72
ABL002 Ablepharon-Macrostomia Syndrome 57 0.064
73
NRR002 Norrie Disease 61 0.063
74
GRW007 Growth Hormone Deficiency 48 0.063
75
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22 0.063
76
SRC014 Sarcoma 66 0.062
77
TWN003 Townes-Brocks Syndrome 53 0.062
78
OPT037 Optic Nerve Hypoplasia 52 0.062
79
P FRN036 Frontonasal Dysplasia 1 31 0.062
80
c CHN039 Chondrodysplasia Punctata, X-Linked Dominant 40 0.061
81
P RTH001 Rothmund-Thomson Syndrome 57 0.061
82
AMB002 Amblyopia 46 0.061
83
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.060
84
P BRC006 Brachydactyly 52 0.060
85
ECT006 Ectodermal Dysplasia 47 0.060
86
APH010 Aphakia, Congenital Primary 43 0.060
87
DNR002 Duane-Radial Ray Syndrome 43 0.060
88
NRN002 Neuronitis 42 0.060
89
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 26 0.060
90
P HYP087 Hypotrichosis 45 0.059
91
P VTR010 Vitreoretinochoroidopathy 32 0.059
92
FVL006 Foveal Hypoplasia 1 22 0.059
93
SKN023 Skin Tag 46 0.057
94
ACR012 Aicardi Syndrome 45 0.057
95
SPN331 Spondyloocular Syndrome 27 0.057
96
c FNC027 Fanconi Anemia, Complementation Group a 73 0.056
97
PTS001 Patau Syndrome 49 0.056
98
SPL039 Split Foot 33 0.056
99
PRT036 Peritonitis 62 0.056
100
INC021 Incontinentia Pigmenti 60 0.056
101
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.054
102
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 35 0.054
103
BSL036 Basal Cell Nevus Syndrome 65 0.053
104
RBR001 Roberts Syndrome 59 0.053
105
SLP005 Sleep Disorder 53 0.053
106
LRN003 Learning Disability 51 0.053
107
P HYP348 Hyperglycinuria 33 0.053
108
FRN022 Frontofacionasal Dysplasia 24 0.053
109
c WRB003 Warburg Micro Syndrome 2 20 0.053
110
BRN107 Branchiootorenal Syndrome 1, with or Without Cataracts 44 0.052
111
KLN001 Klinefelter's Syndrome 55 0.051
112
PPL048 Papillorenal Syndrome 35 0.051
113
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33 0.051
114
GRC002 Gracile Bone Dysplasia 27 0.051
115
P CCK001 Cockayne Syndrome 59 0.050
116
SNS001 Sensorineural Hearing Loss 57 0.050
117
P ADM011 Adams-Oliver Syndrome 48 0.050
118
ACR041 Acromelic Frontonasal Dysostosis 46 0.050
119
BRT030 Birth Defects 43 0.050
120
P LKM002 Leukemia 70 0.049
121
P PNC044 Pancreatitis 60 0.049
122
P MCK022 Meckel Syndrome 1 53 0.049
123
P TRC072 Treacher Collins Syndrome 1 52 0.049
124
P CRV039 Cervicitis 44 0.049
125
DYS018 Dysostosis 44 0.049
126
P AML002 Amelogenesis Imperfecta 43 0.049
127
CHR078 Chorioretinitis 41 0.049
128
BLT001 Bilateral Retinoblastoma 37 0.049
129
CHR492 Chromosome 13q14 Deletion Syndrome 34 0.049
130
c WRB004 Warburg Micro Syndrome 3 20 0.049
131
c WRB005 Warburg Micro Syndrome 4 18 0.049
132
RDR002 Rodrigues Blindness 15 0.049
133
P HYD006 Hydrocephalus 67 0.047
134
P NGH001 Night Blindness 49 0.047
135
RNP001 Renpenning Syndrome 48 0.047
136
DBW001 Dubowitz Syndrome 46 0.047
137
c CNG021 Congenital Toxoplasmosis 46 0.047
138
P TRC086 Trichohepatoenteric Syndrome 1 46 0.047
139
P CNT061 Conotruncal Heart Malformations 62 0.044
140
DRM013 Dermoid Cyst 43 0.044
141
CTY001 Cat Eye Syndrome 42 0.044
142
MLN013 Melanoma Metastasis 40 0.044
143
SPL040 Split Hand 37 0.044
144
CHN065 Choanal Atresia, Posterior 33 0.044
145
EXS013 Exstrophy-Epispadias Complex 30 0.044
146
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29 0.044
147
c HYD043 Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 27 0.044
148
MST020 Mast Cell Activation Syndrome 24 0.044
149
c OCL047 Oculodentodigital Dysplasia, Autosomal Recessive 21 0.044
150
OPT058 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 19 0.044
151
OCL070 Oculopalatocerebral Syndrome 16 0.044
152
CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 11 0.044
153
SKN016 Skin Disease 68 0.043
154
P VLC001 Velocardiofacial Syndrome 62 0.043
155
P DNT015 Dent Disease 61 0.043
156
BHC003 Behcet Syndrome 61 0.043
157
OST024 Osteoporosis-Pseudoglioma Syndrome 54 0.043
158
KRT002 Keratomalacia 54 0.043
159
AMN006 Aminoaciduria 42 0.043
160
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.043
161
c CRB101 Cerebrooculofacioskeletal Syndrome 1 35 0.043
162
CHR103 Charge Syndrome 64 0.040
163
P THL005 Thalassemia 61 0.040
164
P CRN139 Cornelia De Lange Syndrome 1 60 0.040
165
CHY002 Chylomicron Retention Disease 59 0.040
166
CYS010 Cystinosis 51 0.040
167
P SCH018 Schizencephaly 51 0.040
168
CRN245 Craniosynostosis, Philadelphia Type 50 0.040
169
JCB001 Jacobsen Syndrome 48 0.040
170
c ORF040 Orofaciodigital Syndrome Viii 48 0.040
171
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 0.040
172
HYP691 Hypomelanosis of Ito 42 0.040
173
P MSC022 Mosaic Variegated Aneuploidy Syndrome 42 0.040
174
CHR594 Chromosome 3q29 Deletion Syndrome 36 0.040
175
CLB003 Coloboma of Optic Nerve 36 0.040
176
NLX002 Neu-Laxova Syndrome1 34 0.040
177
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 34 0.040
178
OPT001 Optic Disk Drusen 28 0.040
179
P ATX010 Ataxia Neuropathy Spectrum 28 0.040
180
c BNG021 Benign Essential Hypertension 28 0.040
181
CHR582 Chromosome 3q29 Duplication Syndrome 24 0.040
182
OCL033 Oculocerebral Syndrome with Hypopigmentation 24 0.040
183
c CRB098 Cerebrooculofacioskeletal Syndrome 2 21 0.040
184
CHR487 Chromosome 8q21.11 Deletion Syndrome 21 0.040
185
c CRB099 Cerebrooculofacioskeletal Syndrome 3 17 0.040
186
CHR583 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 15 0.040
187
MLT147 Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 13 0.040
188
NRL016 Neural Tube Defects 76 0.035
189
URN010 Urinary Tract Obstruction 56 0.035
190
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.035
191
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 54 0.035
192
URN009 Urinary System Disease 53 0.035
193
P PYL005 Pyelonephritis 52 0.035
194
IMP002 Imperforate Anus 52 0.035
195
TRY001 Trypanosomiasis 52 0.035
196
GLL032 Galloway-Mowat Syndrome 50 0.035
197
FCL010 Focal Epithelial Hyperplasia 48 0.035
198
SKL014 Skeletal Dysplasia 46 0.035
199
P MRD002 Marden-Walker Syndrome 46 0.035
200
SKL017 Skeletal Dysplasias 45 0.035
201
P XRD013 Xeroderma Pigmentosum, Group B 45 0.035
202
PHY002 Physical Disorder 44 0.035
203
HYP017 Hypophosphatemia 42 0.035
204
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 42 0.035
205
c XRD014 Xeroderma Pigmentosum, Group G 39 0.035
206
c 3MT015 3-Methylglutaconic Aciduria, Type I 39 0.035
207
c CCK006 Cockayne Syndrome, Type B 37 0.035
208
NRL018 Neural Tube Defects, Folate-Sensitive 36 0.035
209
MYH012 Myhre Syndrome 35 0.035
210
BLK001 Balkan Nephropathy 33 0.035
211
P CLB027 Coloboma, Ocular 33 0.035
212
ACT003 Acute Kidney Tubular Necrosis 31 0.035
213
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.035
214
c HYD047 Hydrocephalus, Nonsyndromic, Autosomal Recessive 27 0.035
215
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.035
216
c KNN007 Kenny-Caffey Syndrome, Type 2 25 0.035
217
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.035
218
CNG133 Congenital Varicella Syndrome 24 0.035
219
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.035
220
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 23 0.035
221
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 23 0.035
222
c ADM007 Adams-Oliver Syndrome 2 22 0.035
223
HYP213 Hypomelanotic Disorder 21 0.035
224
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 0.035
225
c FML302 Familial Schizencephaly, Shh-Related 20 0.035
226
KPR002 Kapur-Toriello Syndrome 18 0.035
227
c MCR244 Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 17 0.035
228
P NNP011 Nanophthalmos 2 17 0.035
229
P MNS011 Monosomy 9q22.3 14 0.035
230
c BNG076 Benign Exophthalmos Syndrome 14 0.035
231
CHR241 Chromosome 2q24 Microdeletion Syndrome 13 0.035
232
MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 7 0.035