Search results for "anophthalmia "

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

178 hits were found for 'anophthalmia '

# Family MCID Name MIFTS Score
1
P MCR241 Microphthalmia, Syndromic 3 33 6.253
2
FRY006 Fryns Microphthalmia Syndrome 36 4.763
3
MCR013 Microphthalmia 57 4.596
4
MCR165 Microphthalmia with Limb Anomalies 32 4.393
5
ANP019 Anophthalmos with Limb Anomalies 23 3.969
6
c MCR256 Microphthalmia, Syndromic 9 44 3.656
7
c MCR251 Microphthalmia, Syndromic 6 29 3.162
8
ANP020 Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome 7 3.107
9
P ANP022 Anophthalmia/microphthalmia 24 2.889
10
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 12 2.553
11
c MCR137 Microphthalmia, Isolated 2 25 2.528
12
c MCR252 Microphthalmia, Syndromic 5 27 1.860
13
MNT008 Mental Retardation Anophthalmia Craniosynostosis 2 1.860
14
ANP012 Anophthalmia Cleft Lip Palate Hypothalamic Disorder 1 1.835
15
ANP013 Anophthalmia Cleft Palate Micrognathia 1 1.835
16
ANP014 Anophthalmia Esophageal Atresia Cryptorchidism 1 1.835
17
ANP016 Anophthalmia Microcephaly Hypogonadism 1 1.835
18
PX6001 Pax6-Related Anophthalmia 3 1.835
19
MCR273 Microphthalmia/anophthalmia/coloboma Spectrum 1 1.835
20
c RXR001 Rax-Related Anophthalmia/microphthalmia 3 1.835
21
c MCR114 Microphthalmia, Isolated 3 21 1.805
22
P PLZ001 Pelizaeus-Merzbacher Disease 63 1.766
23
c MCR109 Microphthalmia, Isolated 4 29 1.766
24
CLB026 Colobomatous Microphthalmia 28 1.766
25
ARR003 Arroyo Garcia Cimadevilla Syndrome 3 1.766
26
SMS002 Samson Viljoen Syndrome 5 1.766
27
P ESP024 Esophagitis 62 0.170
28
ESP020 Esophageal Atresia 48 0.163
29
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 41 0.149
30
CLF001 Cleft Lip 48 0.141
31
c MCR263 Microphthalmia, Syndromic 1 35 0.133
32
HYP080 Hypogonadism 54 0.124
33
WDS002 Woods Syndrome 30 0.115
34
HYP064 Hypogonadotropism 38 0.105
35
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.094
36
FCL009 Focal Dermal Hypoplasia 52 0.094
37
CRY002 Cryptorchidism 61 0.094
38
MNT006 Manitoba Oculotrichoanal Syndrome 26 0.094
39
P PLY006 Polydactyly 56 0.094
40
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 13 0.094
41
c MCR261 Microphthalmia, Syndromic 2 35 0.081
42
HMF006 Hemifacial Microsomia 54 0.081
43
c MCR227 Microphthalmia, Syndromic 14 22 0.081
44
c MCR212 Microphthalmia, Syndromic 12 22 0.081
45
P APL006 Aplasia Cutis Congenita 48 0.081
46
GRW007 Growth Hormone Deficiency 49 0.081
47
PTT001 Pituitary Hypoplasia 29 0.081
48
ECT006 Ectodermal Dysplasia 46 0.081
49
GST063 Gastric Cancer Risk After H. Pylori Infection 52 0.067
50
ACN011 Acne 63 0.067
51
P HYD006 Hydrocephalus 68 0.067
52
c THR092 Thrombophilia Due to Thrombin Defect 56 0.067
53
CLF027 Cleft Palate, Isolated 56 0.067
54
INT146 Intervertebral Disc Disease 59 0.067
55
URB001 Urbach-Wiethe Disease 48 0.067
56
GST023 Gastric Ulcer 56 0.067
57
P ALP009 Alopecia Areata 62 0.067
58
THR016 Thrombophlebitis 55 0.067
59
APH001 Aphthous Stomatitis 62 0.067
60
PPT005 Peptic Ulcer Disease 58 0.067
61
P MCR010 Microcephaly 60 0.067
62
P CRN037 Craniosynostosis 66 0.067
63
c MCR245 Microphthalmia, Syndromic 8 26 0.067
64
GNG013 Gingivitis 61 0.067
65
C2D001 C2 Deficiency 45 0.067
66
APP008 Appendicitis 61 0.067
67
RCT015 Reactive Arthritis 65 0.067
68
OCL034 Oculocerebrocutaneous Syndrome 29 0.067
69
P ENC008 Encephalocele 48 0.067
70
CNC002 Cinca Syndrome 55 0.067
71
SCB001 Scabies 45 0.067
72
P DDN001 Duodenal Ulcer 51 0.067
73
KLN001 Klinefelter's Syndrome 52 0.067
74
IRR003 Irritant Dermatitis 45 0.067
75
SMT006 Somatoform Disorder 52 0.067
76
P THR015 Thrombophilia 59 0.067
77
c MCR217 Microphthalmia, Syndromic 11 22 0.067
78
ADL030 Adult-Onset Still's Disease 57 0.067
79
VLV011 Vulvovaginal Candidiasis 47 0.067
80
SCH002 Schnitzler Syndrome 47 0.067
81
OST017 Osteomyelitis 60 0.067
82
SLC006 Silicosis 53 0.067
83
c MCR228 Microphthalmia, Syndromic 13 22 0.067
84
TNS005 Tonsillitis 58 0.067
85
EXS013 Exstrophy-Epispadias Complex 33 0.067
86
MGL003 Megalocornea 28 0.067
87
INT075 Intracranial Hypertension 52 0.067
88
PRS012 Pars Planitis 43 0.067
89
ANH003 Anhaptoglobinemia 24 0.067
90
BCT002 Bacterial Vaginosis 53 0.067
91
C4B001 C4b Deficiency 32 0.067
92
MCR103 Microtia 37 0.067
93
HYP085 Hypothalamic Disease 43 0.067
94
STC008 Stocco Dos Santos Syndrome 10 0.067
95
VLV042 Vulvar Vestibulitis Syndrome 43 0.067
96
BCT015 Bacteremia 50 0.067
97
P ATR005 Atrophic Gastritis 47 0.067
98
ORL013 Oral Lichen Planus 53 0.067
99
TRY001 Trypanosomiasis 51 0.067
100
ASP003 Aseptic Meningitis 51 0.067
101
PRS115 Prosthetic Joint Infection 45 0.067
102
CRB164 Cerebrooculonasal Syndrome 15 0.067
103
PMP004 Pemphigus Foliaceus 42 0.067
104
P AGG001 Aggressive Periodontitis 49 0.067
105
CTS005 Catastrophic Antiphospholipid Syndrome 39 0.067
106
CMP009 Complement Deficiency 39 0.067
107
DNG001 Dengue Shock Syndrome 41 0.067
108
LMB050 Limbal Stem Cell Deficiency 44 0.067
109
EXT033 Extrapulmonary Tuberculosis 45 0.067
110
PRN039 Paraneoplastic Syndromes 42 0.067
111
STC004 Stachybotrys Chartarum 38 0.067
112
CRS001 Crescentic Glomerulonephritis 41 0.067
113
IDP064 Idiopathic Neutropenia 43 0.067
114
DPH006 Diaphragmatic Eventration 28 0.067
115
CHR005 Chorioamnionitis 47 0.067
116
CHR053 Chronic Follicular Conjunctivitis 27 0.067
117
RTR008 Root Resorption 41 0.067
118
OST008 Osteosclerotic Myeloma 37 0.067
119
MNN021 Meningococcemia 35 0.067
120
SKN016 Skin Disease 69 0.047
121
P RBN001 Rubinstein-Taybi Syndrome 65 0.047
122
ETH011 Ethylmalonic Encephalopathy 57 0.047
123
P MCK022 Meckel Syndrome 1 54 0.047
124
ACR008 Acrocallosal Syndrome 51 0.047
125
CHR103 Charge Syndrome 64 0.047
126
ANR002 Aniridia 62 0.047
127
P FRS003 Fraser Syndrome 58 0.047
128
BRN003 Branchiooculofacial Syndrome 51 0.047
129
ACR041 Acromelic Frontonasal Dysostosis 45 0.047
130
SNG010 Single Median Maxillary Central Incisor 52 0.047
131
P CNJ013 Conjunctivitis 65 0.047
132
PTS001 Patau Syndrome 49 0.047
133
P HYP086 Hypothyroidism 63 0.047
134
ABL002 Ablepharon-Macrostomia Syndrome 51 0.047
135
SLP005 Sleep Disorder 52 0.047
136
OPT037 Optic Nerve Hypoplasia 50 0.047
137
P HLP001 Holoprosencephaly 62 0.047
138
c HLP009 Holoprosencephaly-9 25 0.047
139
ADR038 Adermatoglyphia 39 0.047
140
EYD002 Eye Disease 62 0.047
141
P ATS049 Autism Susceptibility, X-Linked 2 34 0.047
142
ANN002 Anencephaly 50 0.047
143
c MCR127 Microphthalmia with Coloboma 5 19 0.047
144
c JBR031 Joubert Syndrome 21 23 0.047
145
c MCR262 Microphthalmia, Syndromic 4 21 0.047
146
OMP004 Omphalocele 51 0.047
147
P CLB027 Coloboma, Ocular 28 0.047
148
P SYN001 Syndactyly 49 0.047
149
P INT063 Intellectual Disability 46 0.047
150
P CTR002 Cataract 57 0.047
151
HYD001 Hydranencephaly 35 0.047
152
LRN003 Learning Disability 49 0.047
153
P SYN075 Syngnathia 26 0.047
154
c CLB022 Coloboma, Ocular, Autosomal Recessive 16 0.047
155
DXT001 Dextrocardia 44 0.047
156
c MCK018 Meckel Syndrome 8 19 0.047
157
P MNN007 Meningocele 37 0.047
158
ISL003 Isolated Growth Hormone Deficiency 39 0.047
159
CHR224 Chromosome 1q Duplication 21 0.047
160
BRT030 Birth Defects 44 0.047
161
ALV006 Alveolar Capillary Dysplasia 32 0.047
162
P SCL047 Sclerocornea 27 0.047
163
MCR310 Microgastria-Limb Reduction Defects Association 16 0.047
164
CHR587 Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included 14 0.047
165
CMB021 Combined Pituitary Hormone Deficiency 36 0.047
166
c MCR124 Microphthalmia, Isolated 1 13 0.047
167
TRS011 Trisomy 2 Mosaicism 14 0.047
168
GLB003 Globe Disease 34 0.047
169
c CNG216 Congenital Hydrocephalus 35 0.047
170
OBS004 Obstructive Hydrocephalus 33 0.047
171
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 10 0.047
172
AST008 Asternia 11 0.047
173
NRN002 Neuronitis 40 0.047
174
P ISL020 Isolated Microphthalmia 24 0.047
175
SKD001 Sakoda Complex 4 0.047
176
CRY010 Cryptophthalmos 23 0.047
177
P XLN007 X-Linked Disease 34 0.047
178
MNT033 Mental Retardation X-Linked Dysmorphism 10 0.047