Search results for "anophthalmia "

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

185 hits were found for 'anophthalmia '

# Family MCID Name MIFTS Score
1
P MCR241 Microphthalmia, Syndromic 3 32 6.226
2
FRY006 Fryns Microphthalmia Syndrome 34 4.744
3
MCR013 Microphthalmia 59 4.562
4
MCR165 Microphthalmia with Limb Anomalies 32 4.388
5
ANP019 Anophthalmos with Limb Anomalies 22 3.965
6
c MCR256 Microphthalmia, Syndromic 9 42 3.636
7
c MCR251 Microphthalmia, Syndromic 6 28 3.158
8
ANP020 Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome 6 3.103
9
P ANP022 Anophthalmia/microphthalmia 30 2.872
10
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 11 2.549
11
c MCR137 Microphthalmia, Isolated 2 27 2.525
12
c MCR252 Microphthalmia, Syndromic 5 26 1.857
13
MNT008 Mental Retardation Anophthalmia Craniosynostosis 2 1.857
14
c MCR114 Microphthalmia, Isolated 3 22 1.832
15
PX6001 Pax6-Related Anophthalmia 2 1.832
16
c RXR001 Rax-Related Anophthalmia/microphthalmia 2 1.832
17
ANP012 Anophthalmia Cleft Lip Palate Hypothalamic Disorder 2 1.832
18
ANP013 Anophthalmia Cleft Palate Micrognathia 2 1.832
19
ANP014 Anophthalmia Esophageal Atresia Cryptorchidism 2 1.832
20
ANP016 Anophthalmia Microcephaly Hypogonadism 2 1.832
21
MCR273 Microphthalmia/anophthalmia/coloboma Spectrum 1 1.832
22
P PLZ001 Pelizaeus-Merzbacher Disease 64 1.764
23
CLB026 Colobomatous Microphthalmia 28 1.764
24
c MCR109 Microphthalmia, Isolated 4 22 1.764
25
SMS002 Samson Viljoen Syndrome 4 1.764
26
ARR003 Arroyo Garcia Cimadevilla Syndrome 2 1.764
27
P ESP024 Esophagitis 62 0.147
28
ESP020 Esophageal Atresia 49 0.139
29
CLF001 Cleft Lip 49 0.131
30
c MCR263 Microphthalmia, Syndromic 1 34 0.131
31
HYP080 Hypogonadism 54 0.104
32
WDS002 Woods Syndrome 30 0.104
33
P PLY006 Polydactyly 55 0.093
34
FCL009 Focal Dermal Hypoplasia 54 0.093
35
CLF004 Cleft Lip/palate 46 0.093
36
HYP064 Hypogonadotropism 38 0.093
37
MNT006 Manitoba Oculotrichoanal Syndrome 25 0.093
38
CRY002 Cryptorchidism 62 0.080
39
HMF006 Hemifacial Microsomia 54 0.080
40
GRW007 Growth Hormone Deficiency 48 0.080
41
c MCR261 Microphthalmia, Syndromic 2 33 0.080
42
PTT001 Pituitary Hypoplasia 31 0.080
43
c MCR227 Microphthalmia, Syndromic 14 22 0.080
44
c MCR212 Microphthalmia, Syndromic 12 22 0.080
45
P HYD006 Hydrocephalus 67 0.066
46
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 0.066
47
P APL006 Aplasia Cutis Congenita 48 0.066
48
P ENC008 Encephalocele 47 0.066
49
ECT006 Ectodermal Dysplasia 47 0.066
50
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 38 0.066
51
MCR103 Microtia 37 0.066
52
OCL034 Oculocerebrocutaneous Syndrome 28 0.066
53
DPH006 Diaphragmatic Eventration 27 0.066
54
ECS001 Eec Syndrome 27 0.066
55
c MCR245 Microphthalmia, Syndromic 8 25 0.066
56
c MCR217 Microphthalmia, Syndromic 11 21 0.066
57
c MCR228 Microphthalmia, Syndromic 13 21 0.066
58
CRB164 Cerebrooculonasal Syndrome 15 0.066
59
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 15 0.066
60
SKN016 Skin Disease 68 0.046
61
P MNN013 Meningitis 65 0.046
62
P CNJ013 Conjunctivitis 65 0.046
63
P HYP086 Hypothyroidism 65 0.046
64
P CRN037 Craniosynostosis 65 0.046
65
P RBN001 Rubinstein-Taybi Syndrome 65 0.046
66
CHR103 Charge Syndrome 64 0.046
67
ACN011 Acne 63 0.046
68
EYD002 Eye Disease 63 0.046
69
P HLP001 Holoprosencephaly 62 0.046
70
APH001 Aphthous Stomatitis 62 0.046
71
INT146 Intervertebral Disc Disease 62 0.046
72
P ALP009 Alopecia Areata 61 0.046
73
ANR002 Aniridia 60 0.046
74
GNG013 Gingivitis 60 0.046
75
ETH011 Ethylmalonic Encephalopathy 59 0.046
76
OST017 Osteomyelitis 59 0.046
77
P THR015 Thrombophilia 59 0.046
78
P MCR010 Microcephaly 58 0.046
79
P GST044 Gastritis 58 0.046
80
TNS005 Tonsillitis 58 0.046
81
P CTR002 Cataract 57 0.046
82
P FRS003 Fraser Syndrome 57 0.046
83
ABL002 Ablepharon-Macrostomia Syndrome 57 0.046
84
ADL030 Adult-Onset Still's Disease 57 0.046
85
PPT005 Peptic Ulcer Disease 56 0.046
86
c THR092 Thrombophilia Due to Thrombin Defect 56 0.046
87
CLF027 Cleft Palate, Isolated 56 0.046
88
CNC002 Cinca Syndrome 56 0.046
89
KLN001 Klinefelter's Syndrome 55 0.046
90
c PND001 Pain Disorder 55 0.046
91
GST023 Gastric Ulcer 55 0.046
92
P LRY019 Laryngitis 55 0.046
93
DSS008 Disease of Mental Health 55 0.046
94
c BCT007 Bacterial Meningitis 54 0.046
95
MVL001 Mevalonic Aciduria 54 0.046
96
P INT063 Intellectual Disability 53 0.046
97
SLP005 Sleep Disorder 53 0.046
98
SMT006 Somatoform Disorder 53 0.046
99
INT075 Intracranial Hypertension 53 0.046
100
SLC006 Silicosis 53 0.046
101
P MCK022 Meckel Syndrome 1 53 0.046
102
SNG010 Single Median Maxillary Central Incisor 53 0.046
103
GST063 Gastric Cancer Risk After H. Pylori Infection 53 0.046
104
OPT037 Optic Nerve Hypoplasia 52 0.046
105
ANN002 Anencephaly 52 0.046
106
TRY001 Trypanosomiasis 52 0.046
107
BCT002 Bacterial Vaginosis 51 0.046
108
ACR008 Acrocallosal Syndrome 51 0.046
109
P DDN001 Duodenal Ulcer 51 0.046
110
ASP003 Aseptic Meningitis 51 0.046
111
LRN003 Learning Disability 51 0.046
112
OMP004 Omphalocele 50 0.046
113
IGG001 Iga Glomerulonephritis 50 0.046
114
SCH002 Schnitzler Syndrome 49 0.046
115
PTS001 Patau Syndrome 49 0.046
116
URB001 Urbach-Wiethe Disease 48 0.046
117
ADR038 Adermatoglyphia 48 0.046
118
BCT015 Bacteremia 48 0.046
119
CHR005 Chorioamnionitis 48 0.046
120
VLV011 Vulvovaginal Candidiasis 46 0.046
121
ACR041 Acromelic Frontonasal Dysostosis 46 0.046
122
IRR003 Irritant Dermatitis 46 0.046
123
SCB001 Scabies 45 0.046
124
LMB050 Limbal Stem Cell Deficiency 45 0.046
125
IDP064 Idiopathic Neutropenia 45 0.046
126
P ATR005 Atrophic Gastritis 45 0.046
127
C2D001 C2 Deficiency 44 0.046
128
ISL003 Isolated Growth Hormone Deficiency 44 0.046
129
EXT033 Extrapulmonary Tuberculosis 44 0.046
130
HYP085 Hypothalamic Disease 44 0.046
131
DXT001 Dextrocardia 44 0.046
132
NSS002 Neisseria Meningitidis Infection 43 0.046
133
VLV042 Vulvar Vestibulitis Syndrome 43 0.046
134
DNG001 Dengue Shock Syndrome 43 0.046
135
PRS115 Prosthetic Joint Infection 43 0.046
136
BRT030 Birth Defects 43 0.046
137
NRN002 Neuronitis 42 0.046
138
RTR008 Root Resorption 41 0.046
139
CRS001 Crescentic Glomerulonephritis 41 0.046
140
CTS005 Catastrophic Antiphospholipid Syndrome 41 0.046
141
BRN003 Branchiooculofacial Syndrome 40 0.046
142
3MC002 3mc Syndrome 1 40 0.046
143
CMP009 Complement Deficiency 39 0.046
144
MNN021 Meningococcemia 38 0.046
145
STR002 Streptococcal Meningitis 38 0.046
146
MNN032 Meningococcal Meningitis 38 0.046
147
STC004 Stachybotrys Chartarum 37 0.046
148
NNT024 Neonatal Stroke 37 0.046
149
P MNN007 Meningocele 36 0.046
150
c CNG216 Congenital Hydrocephalus 36 0.046
151
CMB021 Combined Pituitary Hormone Deficiency 36 0.046
152
OST008 Osteosclerotic Myeloma 36 0.046
153
GLB003 Globe Disease 35 0.046
154
OBS004 Obstructive Hydrocephalus 35 0.046
155
P ATS049 Autism Susceptibility, X-Linked 2 35 0.046
156
P XLN007 X-Linked Disease 34 0.046
157
HYD001 Hydranencephaly 34 0.046
158
P CLB027 Coloboma, Ocular 33 0.046
159
HYP586 Hypogonadotropic Hypogonadism 7 Without Anosmia 33 0.046
160
C4B001 C4b Deficiency 31 0.046
161
EXS013 Exstrophy-Epispadias Complex 30 0.046
162
ALV006 Alveolar Capillary Dysplasia 30 0.046
163
MGL003 Megalocornea 28 0.046
164
P SCL047 Sclerocornea 26 0.046
165
CHR053 Chronic Follicular Conjunctivitis 26 0.046
166
P SYN075 Syngnathia 25 0.046
167
P ISL020 Isolated Microphthalmia 25 0.046
168
c HLP009 Holoprosencephaly-9 24 0.046
169
ANH003 Anhaptoglobinemia 24 0.046
170
CRY010 Cryptophthalmos 24 0.046
171
c JBR031 Joubert Syndrome 21 24 0.046
172
c MCR262 Microphthalmia, Syndromic 4 20 0.046
173
c MCK018 Meckel Syndrome 8 19 0.046
174
CHR224 Chromosome 1q Duplication 19 0.046
175
c MCR127 Microphthalmia with Coloboma 5 18 0.046
176
MCR310 Microgastria-Limb Reduction Defects Association 16 0.046
177
c MCR124 Microphthalmia, Isolated 1 16 0.046
178
c CLB022 Coloboma, Ocular, Autosomal Recessive 15 0.046
179
CHR587 Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included 14 0.046
180
MNT033 Mental Retardation X-Linked Dysmorphism 12 0.046
181
TRS011 Trisomy 2 Mosaicism 12 0.046
182
STC008 Stocco Dos Santos Syndrome 10 0.046
183
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 9 0.046
184
AST008 Asternia 8 0.046
185
SKD001 Sakoda Complex 4 0.046