Search results for "anophthalmia "

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

145 hits were found for 'anophthalmia '

# Family MCID Name MIFTS Score
1
P MCR241 Microphthalmia, Syndromic 3 32 6.343
2
MCR165 Microphthalmia with Limb Anomalies 41 6.037
3
FRY006 Fryns Microphthalmia Syndrome 36 4.838
4
MCR013 Microphthalmia 60 4.686
5
c MCR256 Microphthalmia, Syndromic 9 42 3.702
6
c MCR251 Microphthalmia, Syndromic 6 28 3.232
7
ANP020 Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome 6 3.155
8
P ANP022 Anophthalmia/microphthalmia 31 2.945
9
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 6 2.594
10
c MCR137 Microphthalmia, Isolated 2 27 2.566
11
ANP019 Anophthalmos with Limb Anomalies 10 2.534
12
c MCR252 Microphthalmia, Syndromic 5 27 1.893
13
MNT008 Mental Retardation Anophthalmia Craniosynostosis 2 1.893
14
c MCR114 Microphthalmia, Isolated 3 22 1.866
15
PX6001 Pax6-Related Anophthalmia 2 1.866
16
c RXR001 Rax-Related Anophthalmia/microphthalmia 2 1.866
17
ANP012 Anophthalmia Cleft Lip Palate Hypothalamic Disorder 2 1.866
18
ANP013 Anophthalmia Cleft Palate Micrognathia 2 1.866
19
ANP014 Anophthalmia Esophageal Atresia Cryptorchidism 2 1.866
20
ANP016 Anophthalmia Microcephaly Hypogonadism 2 1.866
21
MCR273 Microphthalmia/anophthalmia/coloboma Spectrum 1 1.866
22
CLB026 Colobomatous Microphthalmia 29 1.792
23
c MCR109 Microphthalmia, Isolated 4 22 1.792
24
SMS002 Samson Viljoen Syndrome 5 1.792
25
ARR003 Arroyo Garcia Cimadevilla Syndrome 2 1.792
26
P ESP024 Esophagitis 61 0.160
27
ESP020 Esophageal Atresia 50 0.152
28
CLF001 Cleft Lip 50 0.143
29
c MCR263 Microphthalmia, Syndromic 1 34 0.143
30
HYP080 Hypogonadism 53 0.113
31
WDS002 Woods Syndrome 27 0.113
32
MNT006 Manitoba Oculotrichoanal Syndrome 25 0.113
33
P PLY006 Polydactyly 56 0.101
34
HMF006 Hemifacial Microsomia 55 0.101
35
FCL009 Focal Dermal Hypoplasia 54 0.101
36
CLF004 Cleft Lip/palate 46 0.101
37
HYP064 Hypogonadotropism 37 0.101
38
CRY002 Cryptorchidism 60 0.088
39
GRW007 Growth Hormone Deficiency 50 0.088
40
c MCR261 Microphthalmia, Syndromic 2 34 0.088
41
PTT001 Pituitary Hypoplasia 31 0.088
42
c MCR212 Microphthalmia, Syndromic 12 24 0.088
43
c MCR227 Microphthalmia, Syndromic 14 23 0.088
44
CRB164 Cerebrooculonasal Syndrome 14 0.088
45
P HYD006 Hydrocephalus 66 0.072
46
P HLP001 Holoprosencephaly 63 0.072
47
CHR103 Charge Syndrome 62 0.072
48
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 0.072
49
P FRS003 Fraser Syndrome 56 0.072
50
P MCK022 Meckel Syndrome 1 54 0.072
51
ECT006 Ectodermal Dysplasia 52 0.072
52
P APL006 Aplasia Cutis Congenita 52 0.072
53
PTS001 Patau Syndrome 49 0.072
54
P ENC008 Encephalocele 48 0.072
55
ECS001 Eec Syndrome 39 0.072
56
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 37 0.072
57
MCR103 Microtia 37 0.072
58
OCL034 Oculocerebrocutaneous Syndrome 27 0.072
59
DPH006 Diaphragmatic Eventration 27 0.072
60
c MCR245 Microphthalmia, Syndromic 8 25 0.072
61
c MCR217 Microphthalmia, Syndromic 11 22 0.072
62
c MCR228 Microphthalmia, Syndromic 13 22 0.072
63
c MCR262 Microphthalmia, Syndromic 4 20 0.072
64
CHR224 Chromosome 1q Duplication 19 0.072
65
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 15 0.072
66
CHR587 Chromosome 16p11.2 Deletion Syndrome, 593-Kb Autism, Susceptibility to, 14a, Included 13 0.072
67
SKN016 Skin Disease 66 0.051
68
P CRN037 Craniosynostosis 66 0.051
69
CNR002 Cone-Rod Dystrophy 64 0.051
70
P CNJ013 Conjunctivitis 64 0.051
71
P ANR002 Aniridia 64 0.051
72
P RBN001 Rubinstein-Taybi Syndrome 64 0.051
73
P HYP086 Hypothyroidism 64 0.051
74
P LBR001 Leber Congenital Amaurosis 61 0.051
75
EYD002 Eye Disease 61 0.051
76
P CTR002 Cataract 58 0.051
77
P MCR010 Microcephaly 58 0.051
78
ABL002 Ablepharon-Macrostomia Syndrome 57 0.051
79
ETH011 Ethylmalonic Encephalopathy 56 0.051
80
CLF027 Cleft Palate, Isolated 55 0.051
81
ANN002 Anencephaly 54 0.051
82
c PND001 Pain Disorder 54 0.051
83
SLP005 Sleep Disorder 53 0.051
84
RTN018 Retinal Disease 53 0.051
85
P SYN001 Syndactyly 53 0.051
86
SNG010 Single Median Maxillary Central Incisor 52 0.051
87
ACR008 Acrocallosal Syndrome 52 0.051
88
ISL003 Isolated Growth Hormone Deficiency 52 0.051
89
OPT037 Optic Nerve Hypoplasia 52 0.051
90
OMP004 Omphalocele 50 0.051
91
KLN001 Klinefelter's Syndrome 50 0.051
92
LRN003 Learning Disability 49 0.051
93
URB001 Urbach-Wiethe Disease 49 0.051
94
P INT063 Intellectual Disability 49 0.051
95
P KRT007 Keratoconus 48 0.051
96
ADR038 Adermatoglyphia 46 0.051
97
ACR041 Acromelic Frontonasal Dysostosis 45 0.051
98
c LBR014 Leber Congenital Amaurosis 4 44 0.051
99
HYP085 Hypothalamic Disease 44 0.051
100
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.051
101
DXT001 Dextrocardia 43 0.051
102
BRT030 Birth Defects 43 0.051
103
BRN003 Branchiooculofacial Syndrome 41 0.051
104
c ACH036 Achromatopsia-3 41 0.051
105
NRN002 Neuronitis 41 0.051
106
c LBR019 Leber Congenital Amaurosis 9 40 0.051
107
c CNG216 Congenital Hydrocephalus 37 0.051
108
CMB021 Combined Pituitary Hormone Deficiency 37 0.051
109
HRD016 Hereditary Retinal Dystrophy 36 0.051
110
P MNN007 Meningocele 36 0.051
111
c LBR007 Leber Congenital Amaurosis 12 35 0.051
112
HYD001 Hydranencephaly 35 0.051
113
P CLB027 Coloboma, Ocular 35 0.051
114
c LBR005 Leber Congenital Amaurosis 10 35 0.051
115
OBS004 Obstructive Hydrocephalus 34 0.051
116
P XLN007 X-Linked Disease 34 0.051
117
ALV006 Alveolar Capillary Dysplasia 33 0.051
118
P ATS049 Autism Susceptibility, X-Linked 2 33 0.051
119
GLB003 Globe Disease 32 0.051
120
c MCR124 Microphthalmia, Isolated 1 31 0.051
121
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 29 0.051
122
MGL003 Megalocornea 28 0.051
123
P SCL047 Sclerocornea 27 0.051
124
PRT032 Partial Central Choroid Dystrophy 26 0.051
125
c HLP009 Holoprosencephaly-9 25 0.051
126
P ISL020 Isolated Microphthalmia 25 0.051
127
FRS007 Frias Syndrome 25 0.051
128
HRD019 Hereditary Choroidal Atrophy 25 0.051
129
P SYN075 Syngnathia 25 0.051
130
c JBR031 Joubert Syndrome 21 25 0.051
131
CRY010 Cryptophthalmos 24 0.051
132
BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 23 0.051
133
MGL026 Megalocornea 1, X-Linked 21 0.051
134
c RP6001 Rpe65-Related Leber Congenital Amaurosis 21 0.051
135
c APL013 Aipl1-Related Leber Congenital Amaurosis 20 0.051
136
c MCK018 Meckel Syndrome 8 19 0.051
137
c MCR127 Microphthalmia with Coloboma 5 19 0.051
138
c CLB022 Coloboma, Ocular, Autosomal Recessive 15 0.051
139
MCR310 Microgastria-Limb Reduction Defects Association 14 0.051
140
TRS011 Trisomy 2 Mosaicism 14 0.051
141
AST008 Asternia 10 0.051
142
STC008 Stocco Dos Santos Syndrome 10 0.051
143
MNT033 Mental Retardation X-Linked Dysmorphism 10 0.051
144
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 9 0.051
145
SKD001 Sakoda Complex 4 0.051