# |
Family |
MCID |
Name |
MIFTS |
1 |
|
FTL028 |
Fetal Retinoid Syndrome |
25 |
2 |
P
|
PRG092 |
Pregnancy Loss, Recurrent 1 |
45 |
3 |
|
CHL179 |
Childhood Cns Embryonal Cell Carcinoma |
8 |
4 |
|
TWN001 |
Twin-to-Twin Transfusion Syndrome |
39 |
5 |
P
|
PRM252 |
Preimplantation Embryonic Lethality 1 |
26 |
6 |
|
CHL043 |
Childhood Embryonal Testis Carcinoma |
8 |
7 |
c
|
FTL070 |
Fetal Akinesia Deformation Sequence 2 |
38 |
8 |
c
|
FTL072 |
Fetal Akinesia Deformation Sequence 4 |
36 |
9 |
c
|
FTL071 |
Fetal Akinesia Deformation Sequence 3 |
31 |
10 |
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
11 |
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
42 |
12 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
40 |
13 |
c
|
ADL007 |
Adult Central Nervous System Embryonal Carcinoma |
7 |
14 |
|
FTL004 |
Fetal Erythroblastosis |
36 |
15 |
|
FTL066 |
Fetal Akinesia Syndrome, X-Linked |
14 |
16 |
|
FTL011 |
Fetal Aminopterin Syndrome |
12 |
17 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
60 |
18 |
|
NCH001 |
Nuchal Bleb, Familial |
31 |
19 |
|
ORB002 |
Orbit Embryonal Rhabdomyosarcoma |
30 |
20 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
25 |
21 |
|
INT041 |
Intratubular Embryonal Carcinoma |
25 |
22 |
|
DFN191 |
Deafness, Congenital Heart Defects, and Posterior Embryotoxon |
24 |
23 |
c
|
PRM251 |
Preimplantation Embryonic Lethality 2 |
18 |
24 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
53 |
25 |
c
|
PNT057 |
Pontocerebellar Hypoplasia, Type 1e |
52 |
26 |
|
GCH018 |
Gaucher Disease, Perinatal Lethal |
50 |
27 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
50 |
28 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
49 |
29 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
48 |
30 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
47 |
31 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
32 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
46 |
33 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
45 |
34 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
44 |
35 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
44 |
36 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
43 |
37 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
41 |
38 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
41 |
39 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
38 |
40 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
41 |
c
|
PNT053 |
Pontocerebellar Hypoplasia, Type 13 |
35 |
42 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
34 |
43 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
34 |
44 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
34 |
45 |
c
|
CTR102 |
Cataract 2, Multiple Types |
33 |
46 |
c
|
PNT059 |
Pontocerebellar Hypoplasia, Type 16 |
31 |
47 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
30 |
48 |
c
|
PNT056 |
Pontocerebellar Hypoplasia, Type 15 |
29 |
49 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
28 |
50 |
|
PRS010 |
Prostate Embryonal Rhabdomyosarcoma |
28 |
51 |
c
|
PNT055 |
Pontocerebellar Hypoplasia, Type 14 |
26 |
52 |
|
MTR016 |
Maternal Hyperphenylalaninemia |
23 |
53 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
22 |
54 |
c
|
PNT058 |
Pontocerebellar Hypoplasia, Type 1f |
21 |
55 |
c
|
PNT060 |
Pontocerebellar Hypoplasia, Type 17 |
21 |
56 |
|
CRD031 |
Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification |
7 |
57 |
|
VLV013 |
Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma |
5 |
58 |
|
NNC014 |
Non-Central Nervous System-Localized Embryonal Carcinoma |
5 |
59 |
|
FTL076 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, and Dysmorphic Facies |
25 |
60 |
P
|
CTR002 |
Cataract |
60 |
61 |
|
BLS003 |
Blastoma |
48 |
62 |
c
|
CTR103 |
Cataract 4, Multiple Types |
47 |
63 |
c
|
CTR096 |
Cataract 6, Multiple Types |
44 |
64 |
c
|
CTR118 |
Cataract 14, Multiple Types |
40 |
65 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
66 |
c
|
CTR170 |
Cataract 30, Multiple Types |
39 |
67 |
c
|
CTR174 |
Cataract 40 |
38 |
68 |
c
|
CTR113 |
Cataract 11, Multiple Types |
38 |
69 |
c
|
CTR145 |
Cataract 44 |
37 |
70 |
c
|
CTR129 |
Cataract 31, Multiple Types |
36 |
71 |
c
|
CTR181 |
Cataract 18 |
35 |
72 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
73 |
c
|
CTR183 |
Cataract 38 |
34 |
74 |
|
ALC036 |
Alcohol-Related Birth Defects |
34 |
75 |
c
|
CTR095 |
Cataract 8, Multiple Types |
34 |
76 |
c
|
CTR131 |
Cataract 17, Multiple Types |
32 |
77 |
c
|
CTR187 |
Cataract 48 |
32 |
78 |
c
|
CTR111 |
Cataract 36 |
32 |
79 |
c
|
CTR185 |
Cataract 30 |
32 |
80 |
c
|
CTR175 |
Cataract 24 |
30 |
81 |
c
|
CTR119 |
Cataract 32, Multiple Types |
30 |
82 |
c
|
CTR141 |
Cataract 21, Multiple Types |
29 |
83 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
84 |
c
|
CTR166 |
Cataract 33, Multiple Types |
26 |
85 |
c
|
CTR121 |
Cataract 25 |
26 |
86 |
c
|
CTR097 |
Cataract 34, Multiple Types |
26 |
87 |
|
PRM208 |
Parameningeal Embryonal Rhabdomyosarcoma |
25 |
88 |
|
PRT001 |
Partial Fetal Alcohol Syndrome |
24 |
89 |
c
|
CTR169 |
Cataract 29 |
24 |
90 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
91 |
c
|
CTR162 |
Cataract 47 |
23 |
92 |
c
|
CTR157 |
Cataract 28 |
23 |
93 |
|
CCN012 |
Cocaine Antenatal Exposure |
23 |
94 |
c
|
CTR158 |
Cataract 37 |
23 |
95 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
96 |
c
|
CTR106 |
Cataract 20, Multiple Types |
22 |
97 |
c
|
CTR110 |
Cataract 26, Multiple Types |
22 |
98 |
c
|
CTR160 |
Cataract 45 |
21 |
99 |
c
|
CTR144 |
Cataract 43 |
21 |
100 |
c
|
CTR178 |
Cataract 27 |
21 |
101 |
c
|
CTR128 |
Cataract 33 |
20 |
102 |
c
|
CTR159 |
Cataract 35 |
20 |
103 |
|
HRD180 |
Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
20 |
104 |
c
|
CTR139 |
Cataract 42 |
20 |
105 |
c
|
CTR190 |
Cataract 49 |
18 |
106 |
|
CHL183 |
Childhood Infratentorial Embryonal Tumor with Multilayered Rosettes, C19mc-Altered |
8 |
107 |
|
CHL185 |
Childhood Embryonal Tumor with Multilayered Rosettes, C19mc-Altered |
8 |
108 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
5 |
109 |
|
CHL161 |
Childhood Supratentorial Embryonal Tumor with Multilayered Rosettes, C19mc-Altered |
5 |
110 |
|
FTL077 |
Fetal Akinesia Deformation Sequence Syndrome X-Linked |
4 |
111 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
112 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
61 |
113 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
59 |
114 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
52 |
115 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
116 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
117 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
118 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
49 |
119 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
120 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
48 |
121 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
47 |
122 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
47 |
123 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
47 |
124 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
125 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
126 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
127 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
45 |
128 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
129 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
45 |
130 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
131 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
42 |
132 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
42 |
133 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
42 |
134 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
42 |
135 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
136 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
137 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
40 |
138 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
40 |
139 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
40 |
140 |
|
FTL021 |
Fetal Macrosomia |
39 |
141 |
c
|
CTR132 |
Cataract 3, Multiple Types |
39 |
142 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
37 |
143 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
36 |
144 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
145 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
146 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
35 |
147 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
34 |
148 |
P
|
ART169 |
Arthrogryposis Multiplex Congenita 6 |
31 |
149 |
|
PLY036 |
Polyembryoma |
28 |
150 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
151 |
c
|
CNG626 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive |
27 |
152 |
c
|
ART167 |
Arthrogryposis Multiplex Congenita 5 |
27 |
153 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
154 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
155 |
|
PRV001 |
Parovarian Cyst |
25 |
156 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
157 |
c
|
CNG627 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant |
24 |
158 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
159 |
|
FTL005 |
Fetal Adenoma |
21 |
160 |
|
SLC041 |
Selective Intrauterine Growth Restriction |
19 |
161 |
|
MCR070 |
Microcornea, Glaucoma, and Absent Frontal Sinuses |
19 |
162 |
c
|
ART171 |
Arthrogryposis Multiplex Congenita-3 |
14 |
163 |
c
|
ART170 |
Arthrogryposis Multiplex Congenita-1 |
13 |
164 |
c
|
RR2001 |
Ror2-Related Robinow Syndrome |
13 |
165 |
c
|
ADL102 |
Adult Embryonal Tumor with Multilayered Rosettes, C19mc-Altered |
13 |
166 |
|
NNT022 |
Neonatal Ovarian Cyst |
12 |
167 |
c
|
ART172 |
Arthrogryposis Multiplex Congenita-4 |
12 |
168 |
c
|
FTL034 |
Fetal Hemoglobin Quantitative Trait Locus 4 |
10 |
169 |
|
HYD069 |
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism |
10 |
170 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
171 |
|
THY113 |
Thymic Aplasia with Fetal Death |
8 |
172 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
173 |
|
MXD015 |
Mixed Type Rhabdomyosarcoma |
6 |
174 |
|
FTL020 |
Fetal Left Ventricular Aneurysm |
4 |
175 |
|
SMT021 |
Somatomedin, Embryonic |
4 |
176 |
|
FTL063 |
Fetal Nicotine Spectrum Disorder |
3 |
177 |
|
CHL153 |
Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified |
3 |
178 |
|
FTL017 |
Fetal Enterovirus Syndrome |
2 |
179 |
|
FTL025 |
Fetal Parainfluenza Virus Type 3 Syndrome |
1 |
180 |
|
FTL027 |
Fetal Phenothiazine Syndrome |
1 |
181 |
P
|
HRT032 |
Heart Disease |
80 |
182 |
|
BSL036 |
Basal Cell Nevus Syndrome |
74 |
183 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
70 |
184 |
P
|
RTH006 |
Rothmund-Thomson Syndrome, Type 2 |
69 |
185 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
67 |
186 |
|
CHR103 |
Charge Syndrome |
66 |
187 |
|
RBR002 |
Roberts-Sc Phocomelia Syndrome |
66 |
188 |
|
HJD001 |
Hajdu-Cheney Syndrome |
64 |
189 |
P
|
BTH005 |
Bethlem Myopathy 1 |
64 |
190 |
P
|
PRD006 |
Prader-Willi Syndrome |
62 |
191 |
|
STR039 |
Sturge-Weber Syndrome |
62 |
192 |
|
WLK001 |
Walker-Warburg Syndrome |
61 |
193 |
P
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
61 |
194 |
|
MRS002 |
Marshall Syndrome |
61 |
195 |
P
|
CRN323 |
Cranioectodermal Dysplasia |
60 |
196 |
P
|
CMR001 |
Camurati-Engelmann Disease |
60 |
197 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
59 |
198 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
199 |
|
ACH043 |
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans |
59 |
200 |
P
|
PLY006 |
Polydactyly |
59 |
201 |
P
|
VNT002 |
Ventricular Septal Defect |
58 |
202 |
P
|
ATR010 |
Atrial Heart Septal Defect |
58 |
203 |
P
|
CTS001 |
Cutis Laxa |
57 |
204 |
P
|
SMP007 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
57 |
205 |
|
CLF004 |
Cleft Lip/palate |
57 |
206 |
|
MND021 |
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome |
57 |
207 |
P
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
56 |
208 |
|
3MC003 |
3mc Syndrome |
56 |
209 |
|
BRN003 |
Branchiooculofacial Syndrome |
55 |
210 |
c
|
BRC078 |
Brachydactyly, Type A1 |
54 |
211 |
|
TRC062 |
Tricuspid Atresia |
54 |
212 |
c
|
RHZ011 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
54 |
213 |
|
MSC077 |
Muscle Eye Brain Disease |
54 |
214 |
P
|
KLN006 |
Koolen-De Vries Syndrome |
54 |
215 |
|
BWN001 |
Bowen-Conradi Syndrome |
53 |
216 |
|
LPD016 |
Lipoid Proteinosis of Urbach and Wiethe |
52 |
217 |
P
|
TBH003 |
Teebi Hypertelorism Syndrome 1 |
52 |
218 |
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
52 |
219 |
P
|
VND002 |
Van Der Woude Syndrome |
52 |
220 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
51 |
221 |
|
PRL023 |
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome |
51 |
222 |
c
|
SHR068 |
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly |
51 |
223 |
|
THR009 |
Thrombocytopenia-Absent Radius Syndrome |
51 |
224 |
|
KFM001 |
Kaufman Oculocerebrofacial Syndrome |
50 |
225 |
c
|
WRD020 |
Waardenburg Syndrome, Type 4a |
50 |
226 |
|
CHR005 |
Chorioamnionitis |
50 |
227 |
|
MLY008 |
Molybdenum Cofactor Deficiency, Complementation Group a |
50 |
228 |
|
DND001 |
Dandy-Walker Syndrome |
50 |
229 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
50 |
230 |
|
OLG003 |
Oligohydramnios |
50 |
231 |
c
|
CRN108 |
Cranioectodermal Dysplasia 1 |
49 |
232 |
P
|
MLT140 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
49 |
233 |
|
MRG013 |
Mirage Syndrome |
49 |
234 |
c
|
WRD032 |
Waardenburg Syndrome, Type 2a |
49 |
235 |
|
DYS160 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
49 |
236 |
c
|
DFN036 |
Deafness, X-Linked 2 |
48 |
237 |
|
JCB001 |
Jacobsen Syndrome |
48 |
238 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
48 |
239 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
47 |
240 |
|
FLP001 |
Filippi Syndrome |
47 |
241 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
242 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
243 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
47 |
244 |
|
PTC001 |
Potocki-Shaffer Syndrome |
47 |
245 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
246 |
c
|
WRD024 |
Waardenburg Syndrome, Type 4c |
47 |
247 |
|
DSM017 |
Desmoplastic Nodular Medulloblastoma |
47 |
248 |
|
PLY012 |
Polyhydramnios |
47 |
249 |
|
CHR518 |
Chromosome 9p Deletion Syndrome |
46 |
250 |
|
MCR173 |
Microform Holoprosencephaly |
46 |
251 |
c
|
XFP001 |
Xfe Progeroid Syndrome |
46 |
252 |
P
|
CRC039 |
Coarctation of Aorta |
46 |
253 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
254 |
P
|
PLY148 |
Polydactyly, Preaxial Ii |
45 |
255 |
|
CDG001 |
Cdags Syndrome |
45 |
256 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
45 |
257 |
c
|
CHR408 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
45 |
258 |
c
|
OST136 |
Osteopetrosis, Autosomal Recessive 7 |
45 |
259 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
260 |
c
|
CRN111 |
Cranioectodermal Dysplasia 4 |
45 |
261 |
|
PLC008 |
Placenta Disease |
45 |
262 |
|
TTR011 |
Tetraploidy |
45 |
263 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
45 |
264 |
P
|
SYN075 |
Syngnathia |
45 |
265 |
|
HYP791 |
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate |
45 |
266 |
|
ELS006 |
Elsahy-Waters Syndrome |
44 |
267 |
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
44 |
268 |
|
PLC001 |
Placenta Accreta |
44 |
269 |
c
|
OST134 |
Osteopetrosis, Autosomal Recessive 6 |
44 |
270 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
44 |
271 |
P
|
PRD037 |
Periodontal Ehlers-Danlos Syndrome |
44 |
272 |
|
KGM001 |
Kagami-Ogata Syndrome |
43 |
273 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
43 |
274 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
43 |
275 |
c
|
SMP005 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
43 |
276 |
|
SBV001 |
Subvalvular Aortic Stenosis |
43 |
277 |
c
|
SHR071 |
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly |
43 |
278 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
42 |
279 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
42 |
280 |
c
|
MCP051 |
Mucopolysaccharidosis, Type Ix |
42 |
281 |
|
CHR382 |
Chromosome 18q Deletion Syndrome |
42 |
282 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
42 |
283 |
c
|
CNG404 |
Congenital Heart Defects, Multiple Types, 4 |
41 |
284 |
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
285 |
|
KTL001 |
Keutel Syndrome |
40 |
286 |
|
CRP033 |
Corpus Callosum, Agenesis of, with Abnormal Genitalia |
40 |
287 |
c
|
EHL071 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
40 |
288 |
|
PLC009 |
Placenta Praevia |
40 |
289 |
|
MBD001 |
Mbd5 Haploinsufficiency |
40 |
290 |
|
TRP014 |
Triploidy |
39 |
291 |
P
|
MTP001 |
Metaphyseal Dysplasia |
39 |
292 |
|
INT232 |
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
39 |
293 |
c
|
VND007 |
Van Der Woude Syndrome 1 |
39 |
294 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
39 |
295 |
P
|
SYN012 |
Synpolydactyly |
38 |
296 |
|
FCL047 |
Facial Clefting, Oblique, 1 |
38 |
297 |
c
|
CRN109 |
Cranioectodermal Dysplasia 2 |
38 |
298 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
38 |
299 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
38 |
300 |
|
PLL008 |
Pallister-Killian Syndrome |
38 |
301 |
|
CHR589 |
Chromosome 17p13.3, Centromeric, Duplication Syndrome |
38 |
302 |
|
DSN002 |
Desanto-Shinawi Syndrome |
38 |
303 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
38 |
304 |
|
SHR109 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities |
37 |
305 |
c
|
45X001 |
45,x/46,xy Mixed Gonadal Dysgenesis |
37 |
306 |
c
|
BTH006 |
Bethlem Myopathy 2 |
37 |
307 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
37 |
308 |
|
FCL045 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
37 |
309 |
|
CHR377 |
Chromosome 10q26 Deletion Syndrome |
36 |
310 |
c
|
WRD019 |
Waardenburg Syndrome, Type 4b |
36 |
311 |
|
HYP636 |
Hypocalcemic Vitamin D-Dependent Rickets |
36 |
312 |
|
EMN001 |
Emanuel Syndrome |
36 |
313 |
P
|
MXD016 |
Mixed Gonadal Dysgenesis |
35 |
314 |
c
|
WRD022 |
Waardenburg Syndrome, Type 2d |
35 |
315 |
|
FCL090 |
Facial Cleft |
35 |
316 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
35 |
317 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
34 |
318 |
c
|
WRD029 |
Waardenburg Syndrome, Type 2b |
34 |
319 |
|
49X010 |
49,xxxxx Syndrome |
34 |
320 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
321 |
|
SPN189 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
34 |
322 |
P
|
CHR200 |
Chromosome 16 Trisomy |
33 |
323 |
c
|
VNT028 |
Ventricular Septal Defect 1 |
33 |
324 |
|
CHR379 |
Chromosome 15q26-Qter Deletion Syndrome |
33 |
325 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
33 |
326 |
|
SPN012 |
Spindle Cell Hemangioma |
33 |
327 |
|
CRR017 |
Curry-Jones Syndrome |
32 |
328 |
|
RVL002 |
Ruvalcaba Syndrome |
32 |
329 |
|
CHN075 |
Chondrodysplasia Punctata, Brachytelephalangic, Autosomal |
32 |
330 |
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
32 |
331 |
c
|
RNG018 |
Ring Chromosome 22 |
32 |
332 |
|
CLF049 |
Cleft Lip and Alveolus |
32 |
333 |
c
|
HYD040 |
Hydrolethalus Syndrome 2 |
32 |
334 |
|
SGR001 |
Sugarman Brachydactyly |
31 |
335 |
c
|
RNG017 |
Ring Chromosome 21 |
31 |
336 |
|
ACR017 |
Acrofacial Dysostosis |
31 |
337 |
|
HLZ001 |
Holzgreve Syndrome |
31 |
338 |
|
CHR390 |
Chromosome 14q11-Q22 Deletion Syndrome |
30 |
339 |
|
CLR127 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
30 |
340 |
c
|
MNS014 |
Monosomy 22 |
30 |
341 |
|
CHR270 |
Chromosome 9p Duplication |
30 |
342 |
c
|
RNG004 |
Ring Chromosome 1 |
30 |
343 |
|
RGH010 |
Right Ventricular Hypoplasia, Isolated |
30 |
344 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
345 |
|
ATY016 |
Atypical Werner Syndrome |
30 |
346 |
|
CHR229 |
Chromosome 20p Duplication |
30 |
347 |
|
FRS007 |
Frias Syndrome |
30 |
348 |
|
MCR302 |
Macrostomia, Isolated |
30 |
349 |
|
PSD046 |
Pseudotrisomy 13 Syndrome |
29 |
350 |
|
PRT048 |
Partial Atrioventricular Canal |
29 |
351 |
c
|
FRN032 |
Frontonasal Dysplasia 3 |
29 |
352 |
|
RGH006 |
Right Aortic Arch |
29 |
353 |
c
|
WRD026 |
Waardenburg Syndrome, Type 2c |
29 |
354 |
|
CHR209 |
Chromosome 17p Duplication |
29 |
355 |
|
ISL096 |
Isolated Klippel-Feil Syndrome |
29 |
356 |
c
|
CNG520 |
Congenital Heart Defects, Multiple Types, 6 |
29 |
357 |
|
SPN133 |
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations |
29 |
358 |
|
HMF010 |
Hemifacial Microsomia with Radial Defects |
29 |
359 |
|
NSP016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
29 |
360 |
|
CHR707 |
Chromosome 13q33-Q34 Deletion Syndrome |
28 |
361 |
|
UNV002 |
Univentricular Heart |
28 |
362 |
|
CHR190 |
Chromosome 12p Duplication |
28 |
363 |
|
CHR266 |
Chromosome 8p23.1 Deletion |
28 |
364 |
|
NBL001 |
Nablus Mask-Like Facial Syndrome |
28 |
365 |
|
MSC016 |
Mosaic Trisomy 14 |
28 |
366 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
28 |
367 |
|
CBB002 |
Cobb Syndrome |
28 |
368 |
c
|
SHR115 |
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly |
28 |
369 |
|
16Q001 |
16q24.3 Microdeletion Syndrome |
28 |
370 |
|
OST153 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
28 |
371 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
27 |
372 |
|
NNS135 |
Non-Syndromic Sagittal Craniosynostosis |
27 |
373 |
|
FNT003 |
Fountain Syndrome |
27 |
374 |
c
|
CRN110 |
Cranioectodermal Dysplasia 3 |
27 |
375 |
c
|
SHR129 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
27 |
376 |
|
HLP031 |
Holoprosencephaly 12 with or Without Pancreatic Agenesis |
27 |
377 |
c
|
MYS082 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
27 |
378 |
c
|
MCK028 |
Meckel Syndrome 13 |
27 |
379 |
c
|
ATR093 |
Atrial Heart Septal Defect 7 |
27 |
380 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
27 |
381 |
c
|
CNG511 |
Congenital Heart Defects, Multiple Types, 2 |
26 |
382 |
|
DGR006 |
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 |
26 |
383 |
P
|
SPN236 |
Spina Bifida Cystica |
26 |
384 |
|
NNN007 |
Non-Involuting Congenital Hemangioma |
26 |
385 |
|
OCL030 |
Oculoauriculofrontonasal Syndrome |
26 |
386 |
c
|
CTR105 |
Cataract 12, Multiple Types |
26 |
387 |
|
STN006 |
Steinfeld Syndrome |
26 |
388 |
|
ULN023 |
Ulnar Hypoplasia |
26 |
389 |
|
PRT091 |
Partial Cryptophthalmia |
26 |
390 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
391 |
P
|
CRB210 |
Cerebrofacial Arteriovenous Metameric Syndrome |
25 |
392 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
25 |
393 |
c
|
CNG521 |
Congenital Heart Defects, Multiple Types, 5 |
25 |
394 |
P
|
PRG139 |
Progeroid Syndrome |
25 |
395 |
|
SPN361 |
Spondylometaphyseal Dysplasia, Algerian Type |
25 |
396 |
c
|
MYS084 |
Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive |
25 |
397 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
25 |
398 |
|
NNT005 |
Neonatal Candidiasis |
25 |
399 |
|
MLL022 |
Mullerian Derivatives, Persistence of, with Lymphangiectasia and Postaxial Polydactyly |
25 |
400 |
|
CRT028 |
Cor Triatriatum |
25 |
401 |
|
PRP090 |
Peripheral Dysostosis |
24 |
402 |
|
RDS004 |
Rud Syndrome |
24 |
403 |
|
DPR014 |
Diprosopus |
24 |
404 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
24 |
405 |
|
OST151 |
Osteoporosis and Oculocutaneous Hypopigmentation Syndrome |
24 |
406 |
|
MMM002 |
Mammary-Digital-Nail Syndrome |
24 |
407 |
|
ACL002 |
Acalvaria |
24 |
408 |
c
|
TBH004 |
Teebi Hypertelorism Syndrome 2 |
24 |
409 |
|
OCL070 |
Oculopalatocerebral Syndrome |
24 |
410 |
c
|
MCK037 |
Meckel Syndrome 14 |
24 |
411 |
|
5Q3002 |
5q31.3 Microdeletion Syndrome |
24 |
412 |
|
CNG506 |
Congenital Amyoplasia |
24 |
413 |
c
|
CNG616 |
Congenital Heart Defects, Multiple Types, 7 |
24 |
414 |
|
DST037 |
Distal Monosomy 9p |
23 |
415 |
|
HYP212 |
Hypomandibular Faciocranial Dysostosis |
23 |
416 |
|
DND013 |
Dandy-Walker Malformation with Postaxial Polydactyly |
23 |
417 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
418 |
c
|
CMR006 |
Camurati-Engelmann Disease, Type 2 |
23 |
419 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
23 |
420 |
|
ORB019 |
Orbital Margin, Hypoplasia of |
23 |
421 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
23 |
422 |
c
|
HYD041 |
Hydatidiform Mole, Recurrent, 2 |
23 |
423 |
|
6QT002 |
6q Terminal Deletion Syndrome |
23 |
424 |
|
CNG357 |
Congenital Symblepharon |
23 |
425 |
|
MSC089 |
Mosaic Monosomy X |
22 |
426 |
|
HMH003 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
22 |
427 |
|
MLP006 |
Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type |
22 |
428 |
|
TRT015 |
Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia |
22 |
429 |
|
OCL083 |
Oculogastrointestinal Neurodevelopmental Syndrome |
22 |
430 |
|
PLY133 |
Polysyndactyly with Cardiac Malformation |
22 |
431 |
|
2Q3005 |
2q31.1 Microdeletion Syndrome |
22 |
432 |
|
INF021 |
Infant Gynecomastia |
22 |
433 |
|
PTR028 |
Pterygia, Mental Retardation, and Distinctive Craniofacial Features |
22 |
434 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
22 |
435 |
|
ATR018 |
Atrial Septal Defect Ostium Primum |
21 |
436 |
|
ERM001 |
Ermine Phenotype |
21 |
437 |
|
HYD053 |
Hydrocephalus with Associated Malformations |
21 |
438 |
|
SPN117 |
Spinocerebellar Degeneration and Corneal Dystrophy |
21 |
439 |
|
CRN224 |
Craniofaciofrontodigital Syndrome |
21 |
440 |
|
MLT173 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability |
21 |
441 |
|
GRW034 |
Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction |
21 |
442 |
|
LBR027 |
Laubry-Pezzi Syndrome |
21 |
443 |
|
FBL018 |
Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities |
21 |
444 |
|
MSC017 |
Mosaic Trisomy 22 |
21 |
445 |
|
MSC019 |
Mosaic Trisomy 7 |
21 |
446 |
|
CHR159 |
Charlie M Syndrome |
20 |
447 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
20 |
448 |
|
SPN353 |
Spondylometaphyseal Dysplasia, X-Linked |
20 |
449 |
|
DYR002 |
Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion |
20 |
450 |
c
|
OCY005 |
Oocyte Maturation Defect 4 |
20 |
451 |
|
ART056 |
Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay |
20 |
452 |
c
|
WRD034 |
Waardenburg Syndrome, Type 2f |
20 |
453 |
|
ODN020 |
Odontoma-Dysphagia Syndrome |
20 |
454 |
|
ECT085 |
Ectopia Cordis |
20 |
455 |
|
DYS134 |
Dysspondyloenchondromatosis |
20 |
456 |
|
MTR087 |
Maternal Uniparental Disomy |
20 |
457 |
c
|
ACQ027 |
Acquired Cutis Laxa |
20 |
458 |
|
DYS135 |
Dysphagia Lusoria |
20 |
459 |
|
TRS011 |
Trisomy 2 Mosaicism |
20 |
460 |
|
THK001 |
Thakker-Donnai Syndrome |
20 |
461 |
|
GNC010 |
Genochondromatosis |
20 |
462 |
|
SBP003 |
Subependymal Nodular Heterotopia |
19 |
463 |
c
|
BRC053 |
Brachyolmia Type 2 |
19 |
464 |
|
CRN311 |
Coronary Ostial Stenosis or Atresia |
19 |
465 |
|
ABS020 |
Absent Eyebrows and Eyelashes with Mental Retardation |
19 |
466 |
|
PNH003 |
Pinheiro Freire-Maia Miranda Syndrome |
19 |
467 |
|
VNT031 |
Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence |
19 |
468 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
19 |
469 |
c
|
PST077 |
Posterior Meningocele |
19 |
470 |
c
|
GLC032 |
Glaucoma, Hereditary |
19 |
471 |
|
20Q003 |
20q11.2 Microdeletion Syndrome |
19 |
472 |
|
DFN305 |
Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy |
19 |
473 |
|
CLF047 |
Cleft-Limb-Heart Malformation Syndrome |
19 |
474 |
|
PLY134 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies |
19 |
475 |
|
20P002 |
20p13 Microdeletion Syndrome |
19 |
476 |
P
|
MTR062 |
Maternal Uniparental Disomy of Chromosome 4 |
19 |
477 |
|
MYL044 |
Myelocystocele |
19 |
478 |
|
GMS002 |
Gms Syndrome |
19 |
479 |
|
DFN309 |
Deafness, Conductive, with Ptosis and Skeletal Anomalies |
19 |
480 |
|
BRC094 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
19 |
481 |
|
CLD006 |
Cleidorhizomelic Syndrome |
19 |
482 |
|
DST038 |
Distal Monosomy 7q36 |
18 |
483 |
c
|
ANG052 |
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 |
18 |
484 |
c
|
MTR051 |
Maternal Uniparental Disomy of Chromosome 1 |
18 |
485 |
|
HYP727 |
Hypoglossia with Situs Inversus |
18 |
486 |
c
|
CNG385 |
Congenital Heart Defects, Multiple Types, 3 |
18 |
487 |
|
MSC079 |
Mosaic Trisomy 1 |
18 |
488 |
|
CLF034 |
Cleft Hard Palate |
18 |
489 |
|
CNG347 |
Congenital Tricuspid Stenosis |
18 |
490 |
|
DLT013 |
Deletion 5q35 |
18 |
491 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
18 |
492 |
c
|
KLN007 |
Koolen-De Vries Syndrome Due to a Point Mutation |
18 |
493 |
|
RDL028 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema |
18 |
494 |
|
HYD049 |
Hydrocephalus with Cerebellar Agenesis |
18 |
495 |
|
SPN120 |
Spondylocamptodactyly |
18 |
496 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
18 |
497 |
|
CNG586 |
Congenital Tricuspid Valve Dysplasia |
18 |
498 |
P
|
CHR180 |
Chromosome 10, Uniparental Disomy |
18 |
499 |
|
CHR188 |
Chromosome 11q Duplication |
18 |
500 |
|
WHT005 |
White Forelock with Malformations |
18 |
501 |
c
|
TTL008 |
Total Spina Bifida Cystica |
18 |
502 |
|
CRV064 |
Cervicothoracic Spina Bifida Aperta |
18 |
503 |
c
|
BSL030 |
Basal Encephalocele |
18 |
504 |
|
FCL087 |
Facial Infiltrating Lipomatosis |
18 |
505 |
|
9P1001 |
9p13 Microdeletion Syndrome |
17 |
506 |
|
LRS009 |
Larsen-Like Syndrome, Lethal Type |
17 |
507 |
|
PTR034 |
Paternal Uniparental Disomy |
17 |
508 |
|
49X005 |
49, Xxxyy Syndrome |
17 |
509 |
|
HYP479 |
Hyperinsulinism Due to Hnf4a Deficiency |
17 |
510 |
c
|
MTR061 |
Maternal Uniparental Disomy of Chromosome 6 |
17 |
511 |
|
DST055 |
Distal 22q11.2 Microduplication Syndrome |
17 |
512 |
|
MDL016 |
Midline Cervical Cleft |
17 |
513 |
|
NNS113 |
Non-Syndromic Posterior Hypospadias |
17 |
514 |
|
KMM002 |
Kommerell Diverticulum |
17 |
515 |
|
8Q1001 |
8q12 Microduplication Syndrome |
17 |
516 |
|
ISL118 |
Isolated Tracheoesophageal Fistula |
17 |
517 |
|
5Q3001 |
5q35 Microduplication Syndrome |
17 |
518 |
|
LVC001 |
Levic Stefanovic Nikolic Syndrome |
17 |
519 |
|
MLT147 |
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull |
16 |
520 |
c
|
PTR011 |
Paternal Uniparental Disomy of Chromosome 1 |
16 |
521 |
|
BRC092 |
Brachytelephalangy with Characteristic Facies and Kallmann Syndrome |
16 |
522 |
|
INT089 |
Intellectual Deficit - Short Stature - Hypertelorism |
16 |
523 |
|
ADC008 |
Adactylia, Unilateral |
16 |
524 |
|
SHN001 |
Shone Complex |
16 |
525 |
|
DST079 |
Distal Trisomy 5q |
16 |
526 |
|
XP2002 |
Xp22.13p22.2 Duplication Syndrome |
16 |
527 |
|
6Q1002 |
6q16 Microdeletion Syndrome |
16 |
528 |
|
PTS017 |
Ptosis, Strabismus, and Ectopic Pupils |
16 |
529 |
|
SCR022 |
Sacral Meningocele Conotruncal Heart Defects |
16 |
530 |
|
CNS012 |
Cono-Spondylar Dysplasia |
16 |
531 |
|
DBL010 |
Double-Orifice Mitral Valve |
16 |
532 |
|
CRY029 |
Cryptomicrotia-Brachydactyly Syndrome |
16 |
533 |
|
20Q001 |
20q13.33 Microdeletion Syndrome |
16 |
534 |
|
14Q005 |
14q24.1q24.3 Microdeletion Syndrome |
16 |
535 |
|
ANP015 |
Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies |
16 |
536 |
|
NND003 |
Non-Distal Trisomy 10q |
16 |
537 |
|
WHB001 |
Wahab Syndrome |
16 |
538 |
|
PTR014 |
Paternal 20q13.2q13.3 Microdeletion Syndrome |
16 |
539 |
|
MTP021 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
16 |
540 |
|
ERL037 |
Early-Onset Lamellar Cataract |
16 |
541 |
|
NNS096 |
Non-Syndromic Anorectal Malformation |
15 |
542 |
|
EXT038 |
Extrasystoles Short Stature Hyperpigmentation Microcephaly |
15 |
543 |
|
CYS047 |
Cystic Fibrosis, Modifier of, 1 |
15 |
544 |
|
NND005 |
Non-Distal Trisomy 13q |
15 |
545 |
|
MCR358 |
Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
15 |
546 |
|
KLL013 |
Kallmann Syndrome-Heart Disease Syndrome |
15 |
547 |
|
10Q002 |
10q22.3q23.3 Microduplication Syndrome |
15 |
548 |
c
|
ISC010 |
Isochromosome Yp |
15 |
549 |
c
|
MTR060 |
Maternal Uniparental Disomy of Chromosome 9 |
15 |
550 |
c
|
ADL101 |
Adult-Onset Steinert Myotonic Dystrophy |
15 |
551 |
|
ISL108 |
Isolated Splenogonadal Fusion |
15 |
552 |
|
RCT033 |
Rectal Duplication |
15 |
553 |
|
LPM011 |
Lip, Median Nodule of Upper |
15 |
554 |
|
DST071 |
Distal Monosomy 19p13.3 |
14 |
555 |
|
MCR186 |
Microtriplication 11q24.1 |
14 |
556 |
|
IMP019 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
14 |
557 |
|
ISL054 |
Isolated Congenitally Uncorrected Transposition of the Great Arteries |
14 |
558 |
c
|
GLC052 |
Glaucoma 3, Primary Congenital, C |
14 |
559 |
P
|
ANT062 |
Anterior Urethral Valve |
14 |
560 |
|
SYN112 |
Syndromic Microphthalmia-Anophthalmia-Coloboma |
14 |
561 |
|
MCR295 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
14 |
562 |
|
VRT011 |
Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis |
14 |
563 |
|
MSC088 |
Mosaic Trisomy 5 |
14 |
564 |
|
MSC087 |
Mosaic Trisomy 4 |
14 |
565 |
c
|
ELN002 |
Eln-Related Cutis Laxa |
14 |
566 |
|
ATX036 |
Ataxia-Photosensitivity-Short Stature Syndrome |
14 |
567 |
c
|
LTH052 |
Lethal Recessive Chondrodysplasia |
14 |
568 |
|
ANR041 |
Aniridia-Intellectual Disability Syndrome |
13 |
569 |
|
PRT206 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 |
13 |
570 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
13 |
571 |
|
URC012 |
Urachal Sinus |
13 |
572 |
|
FRY005 |
Fryns Smeets Thiry Syndrome |
13 |
573 |
|
SPN150 |
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism |
13 |
574 |
|
MND008 |
Mandibular Arteriovenous Malformation |
13 |
575 |
|
CRN204 |
Craniofacial Conodysplasia |
13 |
576 |
c
|
ORF005 |
Orofaciodigital Syndrome 12 |
13 |
577 |
|
CNG235 |
Congenital Microgastria |
13 |
578 |
|
CRN194 |
Cranial Meningocele |
13 |
579 |
|
TRN017 |
Transient Neonatal Neutropenia |
13 |
580 |
|
4P1001 |
4p16.3 Microduplication Syndrome |
13 |
581 |
|
SXC004 |
Sex Chromosome Disorder of Sex Development |
13 |
582 |
c
|
ZYG006 |
Zygodactyly Type 2 |
13 |
583 |
|
INT300 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
13 |
584 |
|
PRT162 |
Partial Deletion of the Short Arm of Chromosome 6 |
12 |
585 |
|
MRR013 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
12 |
586 |
|
PST111 |
Posterior Fossa Malformation |
12 |
587 |
|
ATL016 |
Atelencephaly |
12 |
588 |
P
|
PRT183 |
Partial Monosomy of the Long Arm of Chromosome 10 |
12 |
589 |
|
LWR017 |
Lower Limb Malformation-Hypospadias Syndrome |
12 |
590 |
|
LRY034 |
Laryngotracheal Angioma |
12 |
591 |
|
MLT170 |
Multiple Congenital Anomalies/dysmorphic Syndrome |
12 |
592 |
|
MCR184 |
Macrodactyly of Fingers |
12 |
593 |
|
PRT178 |
Partial Deletion of the Long Arm of Chromosome 5 |
12 |
594 |
|
CRV060 |
Cervical Dermoid Cyst |
12 |
595 |
|
SVR082 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
12 |
596 |
|
ARC022 |
Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome |
12 |
597 |
|
AML036 |
Amelia of Lower Limb |
12 |
598 |
c
|
HLL012 |
Hallermann-Streiff-Like Syndrome |
12 |
599 |
|
INT396 |
Internal Carotid Absence |
11 |
600 |
c
|
MLT172 |
Multiple Metaphyseal Dysplasia |
11 |
601 |
|
DST090 |
Distal Trisomy 2p |
11 |
602 |
|
PRT163 |
Partial Deletion of the Short Arm of Chromosome 5 |
11 |
603 |
|
CNG277 |
Congenital Pseudoarthrosis of the Fibula |
11 |
604 |
|
NRL025 |
Neural Tube Closure Defect |
11 |
605 |
|
ISL128 |
Isolated Microspherophakia |
11 |
606 |
|
PRT144 |
Partial Deletion of Chromosome 2 |
11 |
607 |
c
|
PTR015 |
Paternal Uniparental Disomy of Chromosome X |
11 |
608 |
|
CNG244 |
Congenital Laryngeal Cyst |
11 |
609 |
|
CRN310 |
Cranial Malformation |
11 |
610 |
c
|
UNP004 |
Uniparental Disomy of Chromosome 2 |
11 |
611 |
|
CNG575 |
Congenital Joint Dislocations |
11 |
612 |
|
PRT153 |
Partial Deletion of Chromosome 11 |
11 |
613 |
|
PRT215 |
Partial Duplication of the Short Arm of Chromosome 2 |
11 |
614 |
|
XLN157 |
X-Linked Intellectual Disability, Porteous Type |
11 |
615 |
|
XLN210 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
11 |
616 |
c
|
CNG620 |
Congenital-Onset Steinert Myotonic Dystrophy |
11 |
617 |
|
CNG318 |
Congenital Genu Recurvatum |
11 |
618 |
|
DPL010 |
Duplication of the Esophagus |
11 |
619 |
|
PRT152 |
Partial Deletion of Chromosome 10 |
10 |
620 |
c
|
ATS065 |
Autosomal Dominant Coarctation of Aorta |
10 |
621 |
|
PRT185 |
Partial Deletion of the Long Arm of Chromosome 13 |
10 |
622 |
|
CNG272 |
Congenital Achiasma |
10 |
623 |
|
PRT164 |
Partial Deletion of the Short Arm of Chromosome 8 |
10 |
624 |
c
|
PRT205 |
Partial Trisomy of the Long Arm of Chromosome 5 |
10 |
625 |
c
|
UNP007 |
Uniparental Disomy of Chromosome 6 |
10 |
626 |
|
PRT151 |
Partial Deletion of Chromosome 16 |
10 |
627 |
|
PRT204 |
Partial Duplication of the Long Arm of Chromosome 4 |
10 |
628 |
|
CNG517 |
Congenital Agenesis of the Scrotum |
10 |
629 |
|
ATS453 |
Autosomal Anomaly |
10 |
630 |
|
PRT187 |
Partial Duplication of Chromosome X |
10 |
631 |
|
SYN155 |
Syndromic Anorectal Malformation |
10 |
632 |
|
ACC010 |
Accessory Tricuspid Valve Tissue |
10 |
633 |
|
PRT145 |
Partial Deletion of Chromosome 3 |
10 |
634 |
|
ART098 |
Aorto-Right Ventricular Tunnel |
10 |
635 |
|
PRT228 |
Partial Duplication of Chromosome 1 |
10 |
636 |
|
PRS112 |
Persistent Eustachian Valve |
10 |
637 |
c
|
ISC013 |
Isochromosomy Yq |
10 |
638 |
|
2P2002 |
2p21 Microdeletion Syndrome Without Cystinuria |
10 |
639 |
|
PRT159 |
Partial Deletion of the Short Arm of Chromosome 1 |
10 |
640 |
|
PRT230 |
Partial Duplication of Chromosome 3 |
9 |
641 |
|
ESP045 |
Esophageal Malformation |
9 |
642 |
|
DST077 |
Distal Trisomy 22q |
9 |
643 |
|
DST054 |
Distal 17p13.3 Microdeletion Syndrome |
9 |
644 |
|
PRT208 |
Partial Duplication of the Short Arm of Chromosome 8 |
9 |
645 |
|
UPP009 |
Upper Limb Hypertrophy |
9 |
646 |
|
OTM002 |
Otomandibular Dysplasia |
9 |
647 |
|
PRT207 |
Partial Duplication of the Short Arm of Chromosome 7 |
9 |
648 |
|
CRN208 |
Coronary Sinus Atresia |
9 |
649 |
|
BNL004 |
Benallegue Lacete Syndrome |
9 |
650 |
c
|
UNP003 |
Uniparental Disomy of Chromosome 11 |
8 |
651 |
|
PRT154 |
Partial Deletion of Chromosome 18 |
8 |
652 |
|
DST075 |
Distal Trisomy 16q |
8 |
653 |
|
TRS020 |
Tarsal Kink Syndrome |
8 |
654 |
|
ARC019 |
Arachnodactyly - Intellectual Disability - Dysmorphism |
8 |
655 |
|
PRT203 |
Partial Duplication of the Long Arm of Chromosome 7 |
8 |
656 |
|
DZX005 |
Diazoxide-Resistant Hyperinsulinism |
8 |
657 |
P
|
PRT196 |
Partial Trisomy of the Long Arm of Chromosome 16 |
8 |
658 |
|
PRT177 |
Partial Deletion of the Long Arm of Chromosome 4 |
8 |
659 |
|
EN1001 |
En1-Related Dorsoventral Syndrome |
8 |
660 |
|
DST067 |
Distal Monosomy 14q |
8 |
661 |
|
URG006 |
Urogenital Tract Malformation |
8 |
662 |
|
ISL049 |
Isolated Dandy-Walker Malformation Without Hydrocephalus |
8 |
663 |
|
PRT143 |
Partial Deletion of Chromosome 5 |
8 |
664 |
P
|
PRT173 |
Partial Monosomy of the Short Arm of Chromosome 20 |
8 |
665 |
|
CMP057 |
Complete Cryptophthalmia |
8 |
666 |
|
BPR001 |
Bipartite Talus |
8 |
667 |
|
PRT181 |
Partial Deletion of the Long Arm of Chromosome 8 |
8 |
668 |
|
PRT209 |
Partial Duplication of the Short Arm of Chromosome 17 |
8 |
669 |
|
DST083 |
Distal Trisomy 9q |
8 |
670 |
|
DST074 |
Distal Trisomy 20q |
8 |
671 |
|
PRT198 |
Partial Duplication of the Long Arm of Chromosome 14 |
8 |
672 |
c
|
PTR020 |
Paternal Uniparental Disomy of Chromosome 20 |
8 |
673 |
|
PRT211 |
Partial Duplication of the Short Arm of Chromosome 11 |
8 |
674 |
P
|
TSS001 |
Tessier Number 5 Facial Cleft |
8 |
675 |
|
DST058 |
Distal Monosomy 12p |
8 |
676 |
|
DST073 |
Distal Monosomy 7p |
8 |
677 |
|
HMR031 |
Humeral Agenesis/hypoplasia |
8 |
678 |
|
PRT148 |
Partial Deletion of Chromosome 6 |
7 |
679 |
c
|
PRT190 |
Partial Trisomy of the Long Arm of Chromosome 18 |
7 |
680 |
|
PRT141 |
Partial Deletion of Chromosome 1 |
7 |
681 |
|
PRT175 |
Partial Deletion of the Long Arm of Chromosome 2 |
7 |
682 |
|
PRT244 |
Partial Deletion of the Short Arm of Chromosome 12 |
7 |
683 |
|
SPN435 |
Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia |
7 |
684 |
|
3Q2005 |
3q26q27 Microdeletion Syndrome |
7 |
685 |
|
LPT012 |
Leptomyelolipoma |
7 |
686 |
|
ATY043 |
Atypical Norrie Disease Due to Xp11.3 Microdeletion |
7 |
687 |
|
DST070 |
Distal Monosomy 4q |
7 |
688 |
|
LNG112 |
Longitudinal Limb Defect |
7 |
689 |
|
PRT212 |
Partial Duplication of the Short Arm of Chromosome 16 |
7 |
690 |
|
ISL106 |
Isolated Congenital Microcephaly |
7 |
691 |
|
CHR512 |
Cheirospondyloenchondromatosis |
7 |
692 |
|
NND007 |
Non-Distal Monosomy 12q |
7 |
693 |
P
|
ISC012 |
Isochromosome Y |
7 |
694 |
|
SPL072 |
Split Cord Malformation, Composite Type |
6 |
695 |
P
|
CHR690 |
Chromosome Y Structural Anomaly |
6 |
696 |
|
PRT158 |
Partial Deletion of the Short Arm of Chromosome 2 |
6 |
697 |
|
FRN038 |
Frontonasal Arteriovenous Malformation |
6 |
698 |
|
PRT155 |
Partial Deletion of Chromosome 17 |
6 |
699 |
|
PRT172 |
Partial Deletion of the Short Arm of Chromosome 19 |
6 |
700 |
c
|
PRT188 |
Partial Trisomy of the Long Arm of Chromosome 20 |
6 |
701 |
|
PRT229 |
Partial Duplication of Chromosome 2 |
6 |
702 |
|
PRT245 |
Partial Deletion of Chromosome 12 |
6 |
703 |
|
CNG576 |
Congenital Deformities of Fingers |
6 |
704 |
|
ATS356 |
Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome |
6 |
705 |
|
MLF005 |
Malformation Syndrome with Short Stature |
6 |
706 |
c
|
LSS020 |
Lissencephaly with Cerebellar Hypoplasia Type B |
6 |
707 |
|
NLX005 |
Neu-Laxova Syndrome Due to Phosphoserine Aminotransferase Deficiency |
6 |
708 |
|
SPN437 |
Spondylodysplastic Dysplasia |
6 |
709 |
c
|
DNS012 |
Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum |
6 |
710 |
|
DBL020 |
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect |
6 |
711 |
|
ENC035 |
Encircling Double Aortic Arch |
6 |
712 |
|
SYN118 |
Syndrome with Limb Reduction Defects |
6 |
713 |
|
SVR113 |
Severe Lateral Tibial Bowing-Short Stature-Mild Winged Scapula-Mild Facial Dysmorphism Syndrome |
6 |
714 |
|
PRT240 |
Partial Deletion of the Long Arm of Chromosome 19 |
6 |
715 |
c
|
TSS003 |
Tessier Number 6 Facial Cleft |
6 |
716 |
|
PHK010 |
Phakomatosis Spilorosea |
6 |
717 |
|
MYB004 |
Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome |
6 |
718 |
|
CNT081 |
Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome |
6 |
719 |
|
NSL027 |
Nasal Dorsum Fistula |
6 |
720 |
|
PRT142 |
Partial Deletion of Chromosome 4 |
6 |
721 |
|
PRT253 |
Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia |
6 |
722 |
|
CNG592 |
Congenital Aortic Valve Atresia |
5 |
723 |
|
NNS143 |
Non-Syndromic Non-Specific Multisutural Craniosynostosis |
5 |
724 |
c
|
CHR179 |
Chromosome 1, Uniparental Disomy 1q12 Q21 |
5 |
725 |
|
ABS021 |
Absence of Uterine Body |
5 |
726 |
|
DZX003 |
Diazoxide-Resistant Diffuse Hyperinsulinism |
5 |
727 |
|
UTR055 |
Uterine Cervical Aplasia and Agenesis |
5 |
728 |
|
RDL020 |
Radio-Ulnar Synostosis, Bilateral |
5 |
729 |
|
NNS147 |
Non-Syndromic Unilambdoid Craniosynostosis |
5 |
730 |
c
|
PRM303 |
Primary Early-Onset Glaucoma |
5 |
731 |
c
|
SCN083 |
Secondary Early-Onset Glaucoma |
5 |
732 |
|
CDL007 |
Caudal Regression-Sirenomelia Spectrum |
5 |
733 |
|
PRT109 |
Partially Involuting Congenital Hemangioma |
5 |
734 |
|
LNS008 |
Lens Position Anomaly |
5 |
735 |
|
ISL153 |
Isolated Congenital Aglossia |
5 |
736 |
|
SBD003 |
Sbds-Related Severe Neonatal Spondylometaphyseal Dysplasia |
5 |
737 |
|
SPG003 |
Spigelian Hernia-Cryptorchidism Syndrome |
5 |
738 |
|
PRT156 |
Partial Deletion of Chromosome 20 |
5 |
739 |
c
|
PTR021 |
Paternal Uniparental Disomy of Chromosome 21 |
5 |
740 |
|
MDN006 |
Median Cleft of the Upper Lip and Maxilla |
5 |
741 |
|
LWM001 |
Low Implantation of Placenta |
5 |
742 |
|
ISL107 |
Isolated Congenital Syngnathia |
5 |
743 |
|
PRT210 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 |
5 |
744 |
|
PRT220 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 |
5 |
745 |
|
MLT175 |
Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability |
5 |
746 |
|
DPH029 |
Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome |
5 |
747 |
|
PRT224 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 |
5 |
748 |
|
PRT233 |
Partial Duplication of Chromosome 6 |
5 |
749 |
|
NNS046 |
Non-Syndromic Urogenital Tract Malformation |
5 |
750 |
|
RDL019 |
Radio-Ulnar Synostosis, Unilateral |
5 |
751 |
|
DBL013 |
Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect |
5 |
752 |
c
|
GLC033 |
Glaucoma, Hereditary Adult Type 1a |
5 |
753 |
|
NNS139 |
Non-Syndromic Bicoronal and Metopic Craniosynostosis |
5 |
754 |
|
MTR068 |
Mitral Valve Agenesis |
5 |
755 |
|
CNG601 |
Congenital Tricuspid Malformation |
5 |
756 |
c
|
GLC035 |
Glaucoma, Primary Infantile Type 3a |
5 |
757 |
|
ANM025 |
Anomaly of the Mitral Subvalvular Apparatus |
5 |
758 |
|
ART160 |
Arterial Duct Anomaly |
5 |
759 |
|
ISL046 |
Isolated Bilateral Hemispheric Cerebellar Hypoplasia |
5 |
760 |
c
|
GLC029 |
Glaucoma Type 1c |
5 |
761 |
|
CNG360 |
Congenital Unguarded Mitral Orifice |
5 |
762 |
c
|
GLC034 |
Glaucoma, Hereditary Juvenile Type 1b |
5 |
763 |
c
|
TTL013 |
Total Autosomal Trisomy |
5 |
764 |
|
ERL042 |
Early-Onset Partial Cataract |
5 |
765 |
|
NNT001 |
Neonatal Infective Mastitis |
4 |
766 |
|
CNG606 |
Congenital Aortic Valve Dysplasia |
4 |
767 |
|
PRT232 |
Partial Trisomy/tetrasomy of Chromosome 5 |
4 |
768 |
|
PRT214 |
Partial Trisomy/tetrasomy of Chromosome 18 |
4 |
769 |
|
MCR188 |
Macrodactyly of Fingers, Unilateral |
4 |
770 |
|
MCR190 |
Macrodactyly of Toes, Unilateral |
4 |
771 |
|
46X076 |
46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen |
4 |
772 |
|
ATS455 |
Autosomal Uniparental Disomy |
4 |
773 |
|
EPB005 |
Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome |
4 |
774 |
|
PRT221 |
Partial Trisomy/tetrasomy of Chromosome 9 |
4 |
775 |
|
46X069 |
46,xx Disorder of Sex Development Induced by Endogenous Maternal-Derived Androgen |
4 |
776 |
|
ENC071 |
Encephaloclastic Disorder |
4 |
777 |
|
NNS110 |
Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Prostatic Type |
4 |
778 |
|
CNG341 |
Congenital Anomaly of the Coronary Sinus |
4 |
779 |
|
TRC124 |
True Congenital Shoulder Dislocation |
4 |
780 |
|
ISL051 |
Isolated Partial Cerebellar Vermis Agenesis |
4 |
781 |
|
CNG361 |
Congenital Supravalvular Mitral Ring |
4 |
782 |
|
PRX103 |
Preaxial Digit Brachydactyly-Webbed Fingers |
4 |
783 |
c
|
ISL052 |
Isolated Total Cerebellar Vermis Agenesis |
4 |
784 |
c
|
XND001 |
X and Y Chromosomal Anomaly |
4 |
785 |
|
ASC011 |
Ascending Aorta Anomaly |
4 |
786 |
|
MCR189 |
Macrodactyly of Toes, Bilateral |
4 |
787 |
|
NNS107 |
Non-Syndromic Anorectal Malformation Without Fistula |
4 |
788 |
c
|
CHR691 |
Chromosome X Structural Anomaly |
4 |
789 |
c
|
SYN028 |
Syngnathia Multiple Anomalies |
4 |
790 |
|
CNG315 |
Congenital Vertical Talus, Unilateral |
4 |
791 |
|
CNG577 |
Congenital Deformities of Limbs |
4 |
792 |
c
|
CHR201 |
Chromosome 16, Uniparental Disomy |
3 |
793 |
c
|
CHR251 |
Chromosome 5, Uniparental Disomy |
3 |
794 |
|
SYN166 |
Syndrome with a Dandy-Walker Malformation As a Major Feature |
3 |
795 |
|
CRV059 |
Cervicofacial Fibrochondroma |
3 |
796 |
|
NNS056 |
Non-Syndromic Complex Polydactyly |
3 |
797 |
|
DYS206 |
Dysostosis with Brachydactyly with Extraskeletal Manifestations |
3 |
798 |
|
DYS203 |
Dysostosis with Combined Reduction Defects of Upper and Lower Limbs |
3 |
799 |
|
CLD020 |
Cleidocranial Dysplasia and Isolated Cranial Ossification Defect |
3 |
800 |
|
46X064 |
46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors |
3 |
801 |
|
HRT042 |
Heart Position Anomaly |
3 |
802 |
|
PRL049 |
Paralytic Facial Malformation |
3 |
803 |
|
CNG322 |
Congenital Elbow Dislocation, Unilateral |
3 |
804 |
|
SXC006 |
Sex-Chromosome Structural Anomaly |
3 |
805 |
|
NNS103 |
Non-Syndromic Anorectal Malformation with Rectal Stenosis |
3 |
806 |
|
NNS065 |
Non-Syndromic Diaphragmatic or Abdominal Wall Malformation |
3 |
807 |
|
CNG321 |
Congenital Elbow Dislocation, Bilateral |
3 |
808 |
|
NNS100 |
Non-Syndromic Anorectal Malformation with Anal Stenosis |
3 |
809 |
|
NNS066 |
Non-Syndromic Visceral Malformation |
3 |
810 |
c
|
CHR232 |
Chromosome 21, Uniparental Disomy |
3 |
811 |
|
SYN167 |
Syndrome with Microcephaly As a Major Feature |
3 |
812 |
|
NNS106 |
Non-Syndromic Cloacal Malformation |
2 |
813 |
|
NNS050 |
Non-Syndromic Urogenital Tract Malformation of Female |
2 |
814 |
|
PLY186 |
Polysomy of X Chromosome |
2 |
815 |
|
XCH001 |
X Chromosome Number Anomaly with Male Phenotype |
2 |
816 |
|
EMB004 |
Embryonal Carcinoma |
55 |
817 |
P
|
FTL033 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
52 |
818 |
c
|
WLM018 |
Wilms Tumor 5 |
66 |
819 |
|
EMB006 |
Embryonal Testis Carcinoma |
31 |
820 |
c
|
FTL067 |
Fetal Hemoglobin Quantitative Trait Locus 6 |
25 |
821 |
P
|
CNT003 |
Central Nervous System Embryonal Carcinoma |
9 |
822 |
c
|
LYM145 |
Lymphatic Malformation 5 |
52 |
823 |
c
|
LYM144 |
Lymphatic Malformation 1 |
48 |
824 |
c
|
LYM161 |
Lymphatic Malformation 12 |
42 |
825 |
c
|
LYM150 |
Lymphatic Malformation 7 |
34 |
826 |
P
|
RRL003 |
Rare Lymphatic Malformation |
31 |
827 |
c
|
LYM147 |
Lymphatic Malformation 3 |
24 |
828 |
c
|
LYM148 |
Lymphatic Malformation 4 |
24 |
829 |
c
|
LYM159 |
Lymphatic Malformation 10 |
21 |
830 |
c
|
LYM158 |
Lymphatic Malformation 9 |
19 |
831 |
c
|
LYM160 |
Lymphatic Malformation 11 |
17 |
832 |
c
|
LYM146 |
Lymphatic Malformation 2 |
16 |
833 |
|
OVR050 |
Ovarian Embryonal Carcinoma |
34 |
834 |
|
CHL026 |
Childhood Ovarian Embryonal Carcinoma |
8 |
835 |
c
|
WLM013 |
Wilms Tumor 1 |
68 |
836 |
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
50 |
837 |
|
EMB015 |
Embryonal Tumor with Multilayered Rosettes |
29 |
838 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
29 |
839 |
c
|
WLM011 |
Wilms Tumor 6 |
27 |
840 |
c
|
WLM005 |
Wilms Tumor 2 |
26 |
841 |
|
GRM001 |
Germ Cell and Embryonal Cancer |
23 |
842 |
c
|
WLM017 |
Wilms Tumor 4 |
21 |
843 |
c
|
WLM015 |
Wilms Tumor 3 |
19 |
844 |
c
|
FTL065 |
Fetal Hemoglobin Quantitative Trait Locus 5 |
16 |
845 |
c
|
FML094 |
Familial Wilms Tumor 2 |
15 |
846 |
c
|
FTL035 |
Fetal Hemoglobin Quantitative Trait Locus 3 |
15 |
847 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
6 |
848 |
c
|
RBN022 |
Robinow Syndrome, Autosomal Recessive 1 |
56 |
849 |
c
|
RBN018 |
Robinow Syndrome, Autosomal Dominant 1 |
49 |
850 |
|
FTL012 |
Fetal and Neonatal Alloimmune Thrombocytopenia |
47 |
851 |
c
|
RST025 |
Restrictive Dermopathy 1 |
42 |
852 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
42 |
853 |
|
TRT001 |
Teratocarcinoma |
39 |
854 |
P
|
RST003 |
Restrictive Dermopathy |
36 |
855 |
c
|
RBN023 |
Robinow Syndrome, Autosomal Recessive 2 |
27 |
856 |
c
|
RST026 |
Restrictive Dermopathy 2 |
21 |
857 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
8 |
858 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
859 |
|
GRM005 |
Germ Cell Cancer |
45 |
860 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
38 |
861 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
36 |
862 |
c
|
LTH047 |
Lethal Congenital Contracture Syndrome 3 |
28 |
863 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
26 |
864 |
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
25 |
865 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
25 |
866 |
|
HRD183 |
Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
22 |
867 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
22 |
868 |
c
|
FTL036 |
Fetal Hemoglobin Quantitative Trait Locus 2 |
16 |
869 |
|
END020 |
Endocardial Fibroelastosis |
57 |
870 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
35 |
871 |
|
SPR031 |
Sprengel Deformity |
32 |
872 |
c
|
SYN073 |
Syngap1-Related Intellectual Disability |
32 |
873 |
|
EMB007 |
Embryonal Sarcoma |
23 |
874 |
c
|
INT307 |
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation |
19 |
875 |
c
|
HVP001 |
Hivep2-Related Intellectual Disability |
18 |
876 |
c
|
BCL018 |
Bcl11a-Related Intellectual Disability |
15 |
877 |
|
FTL048 |
Fetal Lung Interstitial Tumor |
14 |
878 |
c
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
14 |
879 |
c
|
ATS348 |
Autosomal Dominant Intellectual Disability 30 |
13 |
880 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
13 |
881 |
P
|
FTL014 |
Fetal Brain Disruption Sequence |
11 |
882 |
|
CHL030 |
Childhood Botryoid Rhabdomyosarcoma |
11 |
883 |
P
|
RRN017 |
Rare Intellectual Disability |
10 |
884 |
c
|
WCR002 |
Wac-Related Intellectual Disability |
9 |
885 |
c
|
WDR002 |
Wdr26-Related Intellectual Disability |
9 |
886 |
c
|
TRR002 |
Trio-Related Intellectual Disability |
9 |
887 |
c
|
PPP001 |
Ppp2r5d-Related Intellectual Disability |
8 |
888 |
|
RRG014 |
Rare Genetic Developmental Defect During Embryogenesis |
7 |
889 |
c
|
DDX001 |
Ddx3x-Related Intellectual Disability |
4 |
890 |
|
EMB017 |
Embryonal Tumor of Neuroepithelial Tissue |
4 |
891 |
|
NRL016 |
Neural Tube Defects |
77 |
892 |
|
SCH036 |
Scheie Syndrome |
75 |
893 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
894 |
P
|
DYS007 |
Dyskeratosis Congenita |
69 |
895 |
P
|
SHW006 |
Shwachman-Diamond Syndrome 1 |
68 |
896 |
P
|
CWD010 |
Cowden Syndrome |
68 |
897 |
P
|
JVN014 |
Juvenile Polyposis Syndrome |
68 |
898 |
P
|
PSD087 |
Pseudoxanthoma Elasticum |
68 |
899 |
P
|
ALP004 |
Alport Syndrome |
67 |
900 |
P
|
ART005 |
Arteriovenous Malformation |
65 |
901 |
P
|
HRP006 |
Herpes Simplex |
64 |
902 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
64 |
903 |
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
904 |
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
905 |
|
WLL001 |
Williams-Beuren Syndrome |
63 |
906 |
P
|
CMP005 |
Campomelic Dysplasia |
62 |
907 |
|
SCH078 |
Schimmelpenning-Feuerstein-Mims Syndrome |
62 |
908 |
P
|
NRB001 |
Neuroblastoma |
62 |
909 |
P
|
SYP003 |
Syphilis |
60 |
910 |
|
ESP020 |
Esophageal Atresia |
59 |
911 |
c
|
OST122 |
Osteogenesis Imperfecta, Type Iii |
59 |
912 |
P
|
MYR002 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
59 |
913 |
|
MLN014 |
Melnick-Needles Syndrome |
59 |
914 |
c
|
EHL073 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
59 |
915 |
P
|
INT070 |
Intestinal Obstruction |
58 |
916 |
|
PLM070 |
Pulmonic Stenosis |
58 |
917 |
|
ANS023 |
Anus, Imperforate |
58 |
918 |
c
|
STC015 |
Stickler Syndrome, Type I |
57 |
919 |
P
|
WLF004 |
Wolfram Syndrome |
57 |
920 |
|
DXT001 |
Dextrocardia |
57 |
921 |
|
PRS055 |
Pierson Syndrome |
57 |
922 |
|
BRN056 |
Bronchopulmonary Dysplasia |
57 |
923 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
57 |
924 |
P
|
VNB005 |
Van Buchem Disease |
56 |
925 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
56 |
926 |
|
MCN007 |
Meconium Aspiration Syndrome |
56 |
927 |
P
|
CLS054 |
Classic Ehlers-Danlos Syndrome |
56 |
928 |
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
55 |
929 |
|
CHR101 |
Char Syndrome |
55 |
930 |
|
BLD129 |
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
55 |
931 |
c
|
OTS013 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
55 |
932 |
|
CCT002 |
Cicatricial Pemphigoid |
55 |
933 |
|
MLL018 |
Miller-Dieker Lissencephaly Syndrome |
55 |
934 |
|
LYM029 |
Lymphedema-Distichiasis Syndrome |
54 |
935 |
c
|
LKD019 |
Leukodystrophy, Hypomyelinating, 6 |
53 |
936 |
P
|
FNG006 |
Feingold Syndrome 1 |
53 |
937 |
P
|
PTS002 |
Ptosis |
53 |
938 |
P
|
PRR016 |
Pierre Robin Syndrome |
53 |
939 |
c
|
USH035 |
Usher Syndrome Type 2 |
53 |
940 |
c
|
BRC079 |
Brachydactyly, Type A2 |
53 |
941 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
53 |
942 |
P
|
RCS002 |
Recessive Dystrophic Epidermolysis Bullosa |
53 |
943 |
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
53 |
944 |
|
PST049 |
Postaxial Acrofacial Dysostosis |
52 |
945 |
c
|
EPP017 |
Epiphyseal Dysplasia, Multiple, 1 |
52 |
946 |
|
HMH004 |
Hemihyperplasia, Isolated |
52 |
947 |
|
YNS002 |
Yunis-Varon Syndrome |
52 |
948 |
P
|
MGC008 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
52 |
949 |
|
DNR002 |
Duane-Radial Ray Syndrome |
52 |
950 |
|
JHN001 |
Johanson-Blizzard Syndrome |
52 |
951 |
P
|
FRN012 |
Frontometaphyseal Dysplasia |
52 |
952 |
|
MTC018 |
Metachondromatosis |
52 |
953 |
|
MYL020 |
Myelomeningocele |
52 |
954 |
c
|
ACH042 |
Achondrogenesis, Type Ib |
52 |
955 |
|
WLF002 |
Wolf-Hirschhorn Syndrome |
52 |
956 |
c
|
EHL080 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
52 |
957 |
|
ABL002 |
Ablepharon-Macrostomia Syndrome |
52 |
958 |
|
CKT002 |
Cakut |
51 |
959 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
51 |
960 |
|
HYP789 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
51 |
961 |
c
|
CNG513 |
Congenital Ptosis |
51 |
962 |
P
|
BRC006 |
Brachydactyly |
51 |
963 |
|
INT276 |
Interatrial Communication |
51 |
964 |
c
|
LKD009 |
Leukodystrophy, Hypomyelinating, 5 |
50 |
965 |
P
|
MNN007 |
Meningocele |
50 |
966 |
|
OHD005 |
Ohdo Syndrome, Sbbys Variant |
50 |
967 |
P
|
ANX007 |
Anauxetic Dysplasia 1 |
50 |
968 |
P
|
MCL001 |
Mucolipidosis |
50 |
969 |
|
PLY161 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
50 |
970 |
|
NNT012 |
Neonatal Jaundice |
50 |
971 |
|
SPN405 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
50 |
972 |
c
|
JBR004 |
Joubert Syndrome 2 |
50 |
973 |
P
|
APL006 |
Aplasia Cutis Congenita |
49 |
974 |
P
|
FBR025 |
Fibrochondrogenesis |
49 |
975 |
c
|
ACH033 |
Achondrogenesis, Type Ia |
49 |
976 |
c
|
JBR012 |
Joubert Syndrome 5 |
48 |
977 |
|
CRN049 |
Craniolenticulosutural Dysplasia |
48 |
978 |
c
|
EPD076 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
48 |
979 |
|
CHN065 |
Choanal Atresia, Posterior |
48 |
980 |
c
|
JBR013 |
Joubert Syndrome 8 |
48 |
981 |
c
|
DYS152 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
48 |
982 |
|
OGD001 |
Ogden Syndrome |
48 |
983 |
|
MCR096 |
Macrocephaly/autism Syndrome |
48 |
984 |
c
|
EPD071 |
Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
47 |
985 |
c
|
JBR025 |
Joubert Syndrome 17 |
47 |
986 |
c
|
LKD020 |
Leukodystrophy, Hypomyelinating, 10 |
47 |
987 |
c
|
CTR098 |
Cataract 1, Multiple Types |
47 |
988 |
|
BLD130 |
Bladder Exstrophy |
47 |
989 |
c
|
JBR024 |
Joubert Syndrome 14 |
47 |
990 |
|
DXT002 |
Dextrocardia with Situs Inversus |
47 |
991 |
c
|
WRD031 |
Waardenburg Syndrome, Type 3 |
46 |
992 |
c
|
MCK030 |
Meckel Syndrome, Type 7 |
46 |
993 |
|
ECT026 |
Ectopic Pregnancy |
46 |
994 |
|
AYM001 |
Ayme-Gripp Syndrome |
46 |
995 |
|
SPN289 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
46 |
996 |
|
VTR016 |
Vater/vacterl Association |
46 |
997 |
P
|
GLP001 |
Geleophysic Dysplasia |
46 |
998 |
|
ACR012 |
Aicardi Syndrome |
46 |
999 |
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
1000 |
c
|
EHL074 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
46 |
1001 |
c
|
DYS143 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
46 |
1002 |
c
|
JBR043 |
Joubert Syndrome 32 |
46 |
1003 |
c
|
JBR031 |
Joubert Syndrome 21 |
46 |
1004 |
c
|
EPP013 |
Epiphyseal Dysplasia, Multiple, 5 |
46 |
1005 |
|
OLV004 |
Oliver-Mcfarlane Syndrome |
46 |
1006 |
P
|
OVR076 |
Ovarian Dysgenesis 2 |
46 |
1007 |
c
|
FBR029 |
Fibrochondrogenesis 1 |
46 |
1008 |
|
CHR074 |
Choriocarcinoma |
46 |
1009 |
P
|
OMP004 |
Omphalocele |
45 |
1010 |
c
|
DYS141 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
45 |
1011 |
|
END059 |
Endocrine-Cerebroosteodysplasia |
45 |
1012 |
c
|
JBR022 |
Joubert Syndrome 20 |
45 |
1013 |
|
TRC026 |
Tracheal Disease |
45 |
1014 |
|
MCN017 |
Meconium Ileus |
45 |
1015 |
c
|
JBR011 |
Joubert Syndrome 7 |
45 |
1016 |
|
CHR583 |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
45 |
1017 |
c
|
CTR182 |
Cataract 23, Multiple Types |
44 |
1018 |
|
WLL012 |
Williams-Beuren Region Duplication Syndrome |
44 |
1019 |
|
MLY009 |
Molybdenum Cofactor Deficiency, Complementation Group B |
44 |
1020 |
|
PLC007 |
Placental Abruption |
44 |
1021 |
c
|
JBR026 |
Joubert Syndrome 15 |
44 |
1022 |
c
|
JBR042 |
Joubert Syndrome 23 |
44 |
1023 |
c
|
GLP003 |
Geleophysic Dysplasia 1 |
43 |
1024 |
c
|
JBR016 |
Joubert Syndrome 10 |
43 |
1025 |
c
|
DYS147 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
43 |
1026 |
c
|
CTR130 |
Cataract 9, Multiple Types |
43 |
1027 |
c
|
LSS009 |
Lissencephaly 3 |
43 |
1028 |
|
LYM094 |
Lymphedema, Primary, with Myelodysplasia |
43 |
1029 |
|
CHR211 |
Chromosome 18p Deletion Syndrome |
43 |
1030 |
c
|
ACR126 |
Acromesomelic Dysplasia 2c |
42 |
1031 |
c
|
LKD023 |
Leukodystrophy, Hypomyelinating, 12 |
42 |
1032 |
c
|
ALP105 |
Alport Syndrome 2, Autosomal Recessive |
42 |
1033 |
c
|
ALP104 |
Alport Syndrome 3, Autosomal Dominant |
42 |
1034 |
P
|
OVR082 |
Overgrowth Syndrome |
42 |
1035 |
c
|
CNG033 |
Congenital Syphilis |
42 |
1036 |
c
|
DYS149 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
42 |
1037 |
|
CHR523 |
Chromosome 15q11.2 Deletion Syndrome |
42 |
1038 |
|
DPH019 |
Diaphanospondylodysostosis |
42 |
1039 |
|
PLY100 |
Polyploidy |
42 |
1040 |
|
CMP035 |
Complete Atrioventricular Canal |
42 |
1041 |
c
|
ACR127 |
Acromesomelic Dysplasia 2b |
41 |
1042 |
|
MDL009 |
Medullary Sponge Kidney |
41 |
1043 |
|
HMC030 |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
41 |
1044 |
c
|
LKD015 |
Leukodystrophy, Hypomyelinating, 3 |
41 |
1045 |
c
|
GLP004 |
Geleophysic Dysplasia 2 |
41 |
1046 |
P
|
RDL002 |
Radioulnar Synostosis |
41 |
1047 |
c
|
NRB010 |
Neuroblastoma 1 |
41 |
1048 |
|
IFP002 |
Ifap Syndrome 1, with or Without Bresheck Syndrome |
41 |
1049 |
c
|
LKD016 |
Leukodystrophy, Hypomyelinating, 9 |
41 |
1050 |
|
VND005 |
Van Den Ende-Gupta Syndrome |
41 |
1051 |
c
|
FRN049 |
Frontometaphyseal Dysplasia 1 |
41 |
1052 |
P
|
MSC134 |
Musculocontractural Ehlers-Danlos Syndrome |
41 |
1053 |
|
CHL073 |
Cholestasis-Lymphedema Syndrome |
41 |
1054 |
P
|
BRT062 |
Bartsocas-Papas Syndrome 1 |
40 |
1055 |
|
ARC008 |
Auriculo-Condylar Syndrome |
40 |
1056 |
|
PLY110 |
Polymicrogyria, Bilateral Temporooccipital |
40 |
1057 |
c
|
JBR015 |
Joubert Syndrome 6 |
40 |
1058 |
|
FRY002 |
Fryns Syndrome |
40 |
1059 |
|
NGL001 |
Naegeli-Franceschetti-Jadassohn Syndrome |
40 |
1060 |
c
|
JBR030 |
Joubert Syndrome 22 |
40 |
1061 |
|
CHR590 |
Chromosome 15q11-Q13 Duplication Syndrome |
40 |
1062 |
c
|
ORF038 |
Orofaciodigital Syndrome Iii |
40 |
1063 |
c
|
OVR075 |
Ovarian Dysgenesis 1 |
40 |
1064 |
c
|
RHZ004 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
40 |
1065 |
|
NNN033 |
Noonan Syndrome and Noonan-Related Syndrome |
40 |
1066 |
c
|
DYS173 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
39 |
1067 |
|
EPD117 |
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous |
39 |
1068 |
|
ISL121 |
Isolated Split Hand-Split Foot Malformation |
39 |
1069 |
|
DST008 |
Diastematomyelia |
39 |
1070 |
|
SPN358 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
39 |
1071 |
c
|
APL023 |
Aplasia Cutis Congenita, Nonsyndromic |
39 |
1072 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
39 |
1073 |
c
|
FBR030 |
Fibrochondrogenesis 2 |
39 |
1074 |
c
|
EHL086 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
39 |
1075 |
c
|
CRT070 |
Cortical Dysplasia, Complex, with Other Brain Malformations 1 |
39 |
1076 |
|
PYL017 |
Pyle Disease |
39 |
1077 |
c
|
JBR028 |
Joubert Syndrome 13 |
39 |
1078 |
c
|
DYS174 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
39 |
1079 |
c
|
JBR037 |
Joubert Syndrome 26 |
39 |
1080 |
|
ATY022 |
Atypical Coarctation of Aorta |
39 |
1081 |
c
|
JBR027 |
Joubert Syndrome 16 |
39 |
1082 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
39 |
1083 |
|
THR017 |
Thoracoabdominal Syndrome |
39 |
1084 |
P
|
SNG014 |
Singleton-Merten Syndrome |
39 |
1085 |
c
|
PK3004 |
Pik3ca-Related Overgrowth Spectrum |
38 |
1086 |
c
|
DNT021 |
Dent Disease 2 |
38 |
1087 |
c
|
LKD022 |
Leukodystrophy, Hypomyelinating, 13 |
38 |
1088 |
c
|
RBN020 |
Robinow Syndrome, Autosomal Dominant 3 |
38 |
1089 |
P
|
NNP021 |
Nanophthalmos |
38 |
1090 |
|
MLC004 |
Mulchandani-Bhoj-Conlin Syndrome |
38 |
1091 |
c
|
RNL092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
37 |
1092 |
|
CHR225 |
Chromosome 1q21.1 Duplication Syndrome |
37 |
1093 |
c
|
LKD021 |
Leukodystrophy, Hypomyelinating, 11 |
37 |
1094 |
P
|
RNL059 |
Renal-Hepatic-Pancreatic Dysplasia |
37 |
1095 |
c
|
JBR036 |
Joubert Syndrome 25 |
37 |
1096 |
c
|
BRC062 |
Brachydactyly, Type D |
37 |
1097 |
|
MHR002 |
Mohr Syndrome |
37 |
1098 |
c
|
GLP007 |
Geleophysic Dysplasia 3 |
37 |
1099 |
c
|
JBR021 |
Joubert Syndrome 18 |
37 |
1100 |
c
|
SCN006 |
Secondary Syphilis |
37 |
1101 |
|
ODN009 |
Odontoonychodermal Dysplasia |
37 |
1102 |
P
|
CNG041 |
Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
36 |
1103 |
P
|
SCL047 |
Sclerocornea |
36 |
1104 |
c
|
JBR040 |
Joubert Syndrome 30 |
36 |
1105 |
c
|
FRN048 |
Frontometaphyseal Dysplasia 2 |
36 |
1106 |
|
RBN014 |
Robin Sequence with Cleft Mandible and Limb Anomalies |
36 |
1107 |
c
|
DYS150 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
36 |
1108 |
c
|
DVL097 |
Developmental and Epileptic Encephalopathy 73 |
36 |
1109 |
|
CYS021 |
Cystic Adenomatoid Malformation of Lung |
36 |
1110 |
P
|
CRN074 |
Coronary Artery Aneurysm |
36 |
1111 |
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
36 |
1112 |
|
ISL109 |
Isolated Cleft Lip |
36 |
1113 |
c
|
46X057 |
46,xy Sex Reversal 8 |
35 |
1114 |
|
STL007 |
Steel Syndrome |
35 |
1115 |
|
HYD048 |
Hydrocephalus with Stenosis of the Aqueduct of Sylvius |
35 |
1116 |
c
|
WLL040 |
Weill-Marchesani Syndrome 4 |
35 |
1117 |
c
|
BRC075 |
Brachydactyly, Type A1, C |
35 |
1118 |
|
NVL003 |
Nivelon-Nivelon-Mabille Syndrome |
35 |
1119 |
|
ABR009 |
Abruzzo-Erickson Syndrome |
35 |
1120 |
c
|
SYN084 |
Synpolydactyly 1 |
35 |
1121 |
c
|
JBR045 |
Joubert Syndrome 33 |
35 |
1122 |
c
|
DFN147 |
Deafness, X-Linked 4 |
35 |
1123 |
|
OSB001 |
Osebold-Remondini Syndrome |
35 |
1124 |
|
ANM001 |
Anemia of Prematurity |
35 |
1125 |
|
ICH066 |
Ichthyosis--Cheek--Eyebrow Syndrome |
34 |
1126 |
c
|
DFN194 |
Deafness, X-Linked 1 |
34 |
1127 |
c
|
BRC060 |
Brachydactyly, Type E2 |
34 |
1128 |
|
SYN063 |
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction |
34 |
1129 |
c
|
JBR014 |
Joubert Syndrome 9 |
34 |
1130 |
c
|
XLN004 |
X-Linked Nonsyndromic Deafness |
34 |
1131 |
c
|
CNG100 |
Congenital Herpes Simplex |
34 |
1132 |
P
|
ACR072 |
Acrorenal Syndrome |
34 |
1133 |
c
|
LYM149 |
Lymphatic Malformation 6 |
34 |
1134 |
c
|
ANX008 |
Anauxetic Dysplasia 2 |
34 |
1135 |
|
LSC003 |
Luscan-Lumish Syndrome |
33 |
1136 |
c
|
BRC099 |
Brachydactyly, Type A4 |
33 |
1137 |
|
BRN055 |
Bronchogenic Cyst |
33 |
1138 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
33 |
1139 |
P
|
OTP008 |
Otopalatodigital Syndrome Spectrum Disorder |
33 |
1140 |
c
|
SNG011 |
Singleton-Merten Syndrome 1 |
33 |
1141 |
|
PRG023 |
Progeroid Short Stature with Pigmented Nevi |
33 |
1142 |
|
PSD030 |
Pseudodiastrophic Dysplasia |
33 |
1143 |
|
LRY047 |
Laryngeal Abductor Paralysis |
33 |
1144 |
c
|
BRC047 |
Bruck Syndrome 1 |
33 |
1145 |
|
HRD037 |
Hardikar Syndrome |
33 |
1146 |
c
|
CRT074 |
Cortical Dysplasia, Complex, with Other Brain Malformations 6 |
33 |
1147 |
c
|
CRT067 |
Cortical Dysplasia, Complex, with Other Brain Malformations 2 |
33 |
1148 |
|
SCH055 |
Schilbach-Rott Syndrome |
32 |
1149 |
|
OHD003 |
Ohdo Syndrome, X-Linked |
32 |
1150 |
P
|
CMP072 |
Camptodactyly Syndrome, Guadalajara, Type I |
32 |
1151 |
c
|
DFN370 |
Deafness, X-Linked 7 |
32 |
1152 |
c
|
DFN276 |
Deafness, X-Linked 6 |
32 |
1153 |
c
|
NRB015 |
Neuroblastoma 2 |
32 |
1154 |
|
RFM002 |
Roifman-Chitayat Syndrome |
32 |
1155 |
|
RPD006 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
32 |
1156 |
|
TTR012 |
Tetrasomy 9p |
32 |
1157 |
c
|
BRC105 |
Brachydactyly, Type A1, D |
32 |
1158 |
c
|
PRM022 |
Primary Syphilis |
32 |
1159 |
|
LMB010 |
Lambert Syndrome |
31 |
1160 |
c
|
CTR124 |
Cataract 10, Multiple Types |
31 |
1161 |
c
|
CNG514 |
Congenital Radioulnar Synostosis |
31 |
1162 |
|
12Q002 |
12q14 Microdeletion Syndrome |
31 |
1163 |
c
|
LTC001 |
Late Congenital Syphilis |
31 |
1164 |
|
ANR010 |
Aneurysm of Sinus of Valsalva |
31 |
1165 |
|
MCR324 |
Microphthalmia/coloboma and Skeletal Dysplasia Syndrome |
31 |
1166 |
|
EMP011 |
Emphysema, Congenital Lobar |
31 |
1167 |
c
|
DYS040 |
Dyskeratosis Congenita Autosomal Recessive |
31 |
1168 |
|
TTR014 |
Tetrasomy 18p |
31 |
1169 |
|
MTC100 |
Metacarpal 4-5 Fusion |
31 |
1170 |
P
|
PRC050 |
Pericardium Disease |
31 |
1171 |
|
CHR265 |
Chromosome 8p Duplication |
30 |
1172 |
|
PRX085 |
Preaxial Hallucal Polydactyly |
30 |
1173 |
|
UVL009 |
Uvula, Bifid |
30 |
1174 |
P
|
CRN249 |
Cornea Plana |
30 |
1175 |
c
|
JBR039 |
Joubert Syndrome 28 |
30 |
1176 |
c
|
CHR227 |
Chromosome 20 Trisomy |
30 |
1177 |
|
MCR067 |
Microcoria, Congenital |
30 |
1178 |
|
SVR061 |
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome |
30 |
1179 |
c
|
DNC007 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
30 |
1180 |
c
|
JVN034 |
Juvenile Polyposis of Infancy |
30 |
1181 |
|
CRP028 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence |
30 |
1182 |
c
|
FNG009 |
Feingold Syndrome 2 |
30 |
1183 |
|
MSM004 |
Mesomelia-Synostoses Syndrome |
30 |
1184 |
|
NSL017 |
Nasolacrimal Duct Cyst |
29 |
1185 |
c
|
MLT141 |
Multiple Epiphyseal Dysplasia Due to Collagen 9 Anomaly |
29 |
1186 |
c
|
BRC108 |
Brachydactyly, Type A3 |
29 |
1187 |
|
HYP728 |
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia |
29 |
1188 |
|
RCM003 |
Recombinant Chromosome 8 Syndrome |
29 |
1189 |
|
RHM015 |
Rhombencephalosynapsis |
29 |
1190 |
c
|
RNG022 |
Ring Chromosome 6 |
29 |
1191 |
|
CHR483 |
Chromosome 3q13.31 Deletion Syndrome |
29 |
1192 |
|
PNL023 |
Penile Agenesis |
29 |
1193 |
P
|
TRS029 |
Trisomy 1q |
29 |
1194 |
c
|
RNG007 |
Ring Chromosome 12 |
29 |
1195 |
c
|
DYS144 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
29 |
1196 |
|
CHR182 |
Chromosome 10p Duplication |
29 |
1197 |
c
|
NRB014 |
Neuroblastoma 3 |
28 |
1198 |
c
|
DFN146 |
Deafness, X-Linked 3 |
28 |
1199 |
|
CHR586 |
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb |
28 |
1200 |
|
49X004 |
49,xyyyy Syndrome |
28 |
1201 |
|
CHR621 |
Chromosome 16p11.2 Deletion Syndrome, 593-Kb |
28 |
1202 |
|
SYS006 |
Say Syndrome |
28 |
1203 |
|
CRN272 |
Craniometadiaphyseal Dysplasia |
28 |
1204 |
c
|
SHW007 |
Shwachman-Diamond Syndrome 2 |
28 |
1205 |
|
NSY001 |
N Syndrome |
28 |
1206 |
|
EXT062 |
Extracranial Carotid Artery Aneurysm |
28 |
1207 |
c
|
ERL002 |
Early Congenital Syphilis |
28 |
1208 |
|
CHR212 |
Chromosome 18p Duplication |
28 |
1209 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
28 |
1210 |
|
SPN328 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
28 |
1211 |
c
|
LKD030 |
Leukodystrophy, Hypomyelinating, 17 |
28 |
1212 |
|
HYP180 |
Hypertrichosis Lanuginosa Congenita |
28 |
1213 |
|
ACR102 |
Acrorenal-Mandibular Syndrome |
28 |
1214 |
|
CHR369 |
Chromosome Xq28 Duplication Syndrome |
27 |
1215 |
|
FTL064 |
Fetal Methylmercury Syndrome |
27 |
1216 |
|
CHR010 |
Chorioangioma |
27 |
1217 |
|
ISL011 |
Isolated Aniridia |
27 |
1218 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
27 |
1219 |
|
ORF053 |
Orofacial Clefting Syndrome |
27 |
1220 |
P
|
PST016 |
Posterior Polar Cataract |
27 |
1221 |
c
|
JBR044 |
Joubert Syndrome 31 |
27 |
1222 |
|
CLN022 |
Colonic Atresia |
27 |
1223 |
P
|
RNG032 |
Ring Chromosome |
27 |
1224 |
|
SHR097 |
Short Tarsus with Absence of Lower Eyelashes |
27 |
1225 |
c
|
RNL095 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
27 |
1226 |
|
KYP002 |
Kyphomelic Dysplasia |
27 |
1227 |
|
PRT131 |
Partial Trisomy Distal 4q |
27 |
1228 |
|
ATR055 |
Atrial Septal Aneurysm |
27 |
1229 |
|
PRT043 |
Parietal Foramina with Cleidocranial Dysplasia |
27 |
1230 |
c
|
CRT068 |
Cortical Dysplasia, Complex, with Other Brain Malformations 3 |
26 |
1231 |
c
|
CTR116 |
Cataract 15, Multiple Types |
26 |
1232 |
c
|
MCK026 |
Meckel Syndrome 12 |
26 |
1233 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
26 |
1234 |
|
HYP490 |
Hyperinsulinism Due to Hnf1a Deficiency |
26 |
1235 |
c
|
LKD031 |
Leukodystrophy, Hypomyelinating, 18 |
26 |
1236 |
c
|
OCY003 |
Oocyte Maturation Defect 1 |
26 |
1237 |
c
|
JBR049 |
Joubert Syndrome 37 |
26 |
1238 |
|
NVR001 |
Nievergelt Syndrome |
26 |
1239 |
c
|
RDL040 |
Radioulnar Synostosis, Nonsyndromic |
26 |
1240 |
P
|
ADD006 |
Adducted Thumbs Syndrome |
26 |
1241 |
c
|
CRT073 |
Cortical Dysplasia, Complex, with Other Brain Malformations 5 |
25 |
1242 |
c
|
MGC012 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
25 |
1243 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
25 |
1244 |
|
46X054 |
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs |
25 |
1245 |
c
|
NNP011 |
Nanophthalmos 2 |
25 |
1246 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
25 |
1247 |
|
CHR241 |
Chromosome 2q24 Microdeletion Syndrome |
25 |
1248 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
25 |
1249 |
|
NNS133 |
Non-Syndromic Metopic Craniosynostosis |
25 |
1250 |
|
ATR017 |
Atrial Septal Defect Coronary Sinus |
25 |
1251 |
|
MCD002 |
Mcdonough Syndrome |
25 |
1252 |
|
LRY046 |
Laryngeal Web, Familial |
25 |
1253 |
c
|
ANX011 |
Anauxetic Dysplasia 3 |
25 |
1254 |
|
8PN001 |
8p Inverted Duplication/deletion Syndrome |
25 |
1255 |
|
DRM041 |
Dermoid Cysts, Familial Frontonasal |
25 |
1256 |
c
|
INT407 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
25 |
1257 |
P
|
OCY002 |
Oocyte Maturation Defect 2 |
25 |
1258 |
|
MCR309 |
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia |
25 |
1259 |
c
|
OVR107 |
Ovarian Dysgenesis 4 |
25 |
1260 |
c
|
ACR105 |
Acrofrontofacionasal Dysostosis 2 |
24 |
1261 |
c
|
NNP012 |
Nanophthalmos 4 |
24 |
1262 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
1263 |
c
|
MGC009 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
24 |
1264 |
c
|
CRT089 |
Cortical Dysplasia, Complex, with Other Brain Malformations 10 |
24 |
1265 |
c
|
MNS008 |
Monosomy 21 |
24 |
1266 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
1267 |
P
|
PHC014 |
Phocomelia |
24 |
1268 |
|
AML065 |
Amelia |
24 |
1269 |
c
|
JBR038 |
Joubert Syndrome 27 |
24 |
1270 |
|
CHR555 |
Chromosome 3p- Syndrome |
24 |
1271 |
|
ATR019 |
Atrial Septal Defect Sinus Venosus |
24 |
1272 |
|
BLP009 |
Blepharonasofacial Malformation Syndrome |
24 |
1273 |
|
16P003 |
16p13.11 Microdeletion Syndrome |
24 |
1274 |
|
NRF010 |
Neurofaciodigitorenal Syndrome |
24 |
1275 |
c
|
RNG006 |
Ring Chromosome 11 |
24 |
1276 |
|
MND027 |
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia |
24 |
1277 |
|
SYM024 |
Symphalangism, Distal |
24 |
1278 |
c
|
SNG012 |
Singleton-Merten Syndrome 2 |
24 |
1279 |
|
ART166 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum |
24 |
1280 |
c
|
DKP001 |
Dk Phocomelia Syndrome |
24 |
1281 |
|
LLS001 |
Lelis Syndrome |
24 |
1282 |
c
|
JBR050 |
Joubert Syndrome 38 |
24 |
1283 |
c
|
DNC008 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
24 |
1284 |
|
CMB063 |
Combined Oxidative Phosphorylation Deficiency 25 |
24 |
1285 |
c
|
LKD032 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
23 |
1286 |
c
|
RNG015 |
Ring Chromosome 2 |
23 |
1287 |
|
NNT021 |
Neonatal Meningitis |
23 |
1288 |
c
|
CTR136 |
Cataract 41 |
23 |
1289 |
|
SPL055 |
Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts |
23 |
1290 |
|
SCH031 |
Scholte Syndrome |
23 |
1291 |
|
IST006 |
Isotretinoin Syndrome |
23 |
1292 |
|
TBL030 |
Tibial Aplasia-Ectrodactyly Syndrome |
23 |
1293 |
c
|
LKD035 |
Leukodystrophy, Hypomyelinating, 22 |
23 |
1294 |
|
STR088 |
Stratton-Parker Syndrome |
23 |
1295 |
c
|
JBR048 |
Joubert Syndrome 36 |
23 |
1296 |
c
|
RNG019 |
Ring Chromosome 3 |
23 |
1297 |
|
CRB144 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
23 |
1298 |
|
UTR054 |
Uterine Hypoplasia |
23 |
1299 |
|
MTR027 |
Mitral Atresia |
23 |
1300 |
c
|
BRT063 |
Bartsocas-Papas Syndrome 2 |
23 |
1301 |
|
CMP039 |
Camptodactyly 1 |
23 |
1302 |
|
HMM005 |
Hemimelia |
23 |
1303 |
|
CHR612 |
Chromosome 15q14 Deletion Syndrome |
23 |
1304 |
c
|
CRT071 |
Cortical Dysplasia, Complex, with Other Brain Malformations 4 |
23 |
1305 |
c
|
JBR051 |
Joubert Syndrome 39 |
23 |
1306 |
|
VRR008 |
Verrucous Hemangioma |
22 |
1307 |
|
CRN156 |
Craniofacioskeletal Syndrome |
22 |
1308 |
P
|
CMP082 |
Complex Cortical Dysplasia with Other Brain Malformations |
22 |
1309 |
|
SPT023 |
Septate Uterus |
22 |
1310 |
c
|
OCY004 |
Oocyte Maturation Defect 3 |
22 |
1311 |
c
|
CRT087 |
Cortical Dysplasia, Complex, with Other Brain Malformations 9 |
22 |
1312 |
c
|
MNS011 |
Monosomy 9q22.3 |
22 |
1313 |
|
ULN014 |
Ulnar Hemimelia |
22 |
1314 |
|
CHR610 |
Chromosome 10q22.3-Q23.2 Deletion Syndrome |
22 |
1315 |
P
|
YLN003 |
Y-Linked Deafness |
22 |
1316 |
c
|
JBR052 |
Joubert Syndrome 40 |
22 |
1317 |
|
MCR274 |
Microcephalic Primordial Dwarfism, Montreal Type |
22 |
1318 |
|
ULN005 |
Ulna and Fibula, Hypoplasia of |
22 |
1319 |
c
|
MGC011 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
22 |
1320 |
|
PCM001 |
Pacman Dysplasia |
22 |
1321 |
c
|
TRS012 |
Trisomy 22 |
22 |
1322 |
|
DBL007 |
Double Outlet Left Ventricle |
22 |
1323 |
|
DST045 |
Distal Trisomy 6p |
22 |
1324 |
c
|
OVR102 |
Ovarian Dysgenesis 3 |
22 |
1325 |
|
CNG009 |
Congenital Aortic Valve Stenosis |
22 |
1326 |
c
|
OVR119 |
Ovarian Dysgenesis 7 |
22 |
1327 |
|
ERY043 |
Euryblepharon |
22 |
1328 |
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
22 |
1329 |
c
|
LKD033 |
Leukodystrophy, Hypomyelinating, 20 |
21 |
1330 |
P
|
PTR018 |
Paternal Uniparental Disomy of Chromosome 6 |
21 |
1331 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
21 |
1332 |
|
9Q3002 |
9q33.3q34.11 Microdeletion Syndrome |
21 |
1333 |
c
|
LKD034 |
Leukodystrophy, Hypomyelinating, 21 |
21 |
1334 |
|
SMM003 |
Summitt Syndrome |
21 |
1335 |
|
FCD002 |
Faciodigitogenital Syndrome, Autosomal Recessive |
21 |
1336 |
|
DST059 |
Distal Trisomy 17q |
21 |
1337 |
c
|
LYM155 |
Lymphatic Malformation 8 |
21 |
1338 |
|
DST044 |
Distal Trisomy 14q |
21 |
1339 |
c
|
NNP017 |
Nanophthalmos 1 |
21 |
1340 |
|
PRR029 |
Pierre Robin Syndrome and Oligodactyly |
21 |
1341 |
|
RHZ012 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
21 |
1342 |
|
PHS030 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
21 |
1343 |
|
EHL036 |
Ehlers-Danlos/osteogenesis Imperfecta Syndrome |
21 |
1344 |
|
1Q4001 |
1q44 Microdeletion Syndrome |
21 |
1345 |
|
BRC093 |
Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction |
21 |
1346 |
c
|
RNL099 |
Renal Hypodysplasia/aplasia 2 |
21 |
1347 |
|
CRN308 |
Coronary Arterial Fistula |
21 |
1348 |
|
LVC002 |
Levocardia |
21 |
1349 |
c
|
BRC080 |
Brachydactyly, Type A1, B |
21 |
1350 |
c
|
OVR127 |
Ovarian Dysgenesis 9 |
21 |
1351 |
|
EDN001 |
Edinburgh Malformation Syndrome |
20 |
1352 |
|
1QD001 |
1q Duplications |
20 |
1353 |
P
|
DNC006 |
Diencephalic-Mesencephalic Junction Dysplasia |
20 |
1354 |
|
19P001 |
19p13.12 Microdeletion Syndrome |
20 |
1355 |
P
|
ERL043 |
Early-Onset Nuclear Cataract |
20 |
1356 |
c
|
OVR115 |
Ovarian Dysgenesis 5 |
20 |
1357 |
|
CNT104 |
Contractures, Congenital, Torticollis, and Malignant Hyperthermia |
20 |
1358 |
c
|
ANG053 |
Angelman Syndrome Due to Maternal 15q11q13 Deletion |
20 |
1359 |
|
MNS012 |
Monostotic Fibrous Dysplasia |
20 |
1360 |
c
|
LKD037 |
Leukodystrophy, Hypomyelinating, 24 |
20 |
1361 |
|
8P1001 |
8p11.2 Deletion Syndrome |
20 |
1362 |
c
|
SLV022 |
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 |
20 |
1363 |
|
PSD103 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies |
20 |
1364 |
|
PLY088 |
Polyvalvular Heart Disease Syndrome |
20 |
1365 |
|
FTL058 |
Fetal Trimethadione Syndrome |
20 |
1366 |
|
17Q012 |
17q24.2 Microdeletion Syndrome |
20 |
1367 |
|
BMR004 |
Beemer Lethal Malformation Syndrome |
20 |
1368 |
|
OCL057 |
Oculotrichodysplasia |
20 |
1369 |
|
MCR317 |
Macrophthalmia, Colobomatous, with Microcornea |
20 |
1370 |
|
CNG101 |
Congenital Human Immunodeficiency Virus |
20 |
1371 |
|
SVR009 |
Seaver Cassidy Syndrome |
20 |
1372 |
c
|
RNG011 |
Ring Chromosome 16 |
19 |
1373 |
|
NSL020 |
Nasal Glial Heterotopia |
19 |
1374 |
c
|
OVR120 |
Ovarian Dysgenesis 8 |
19 |
1375 |
c
|
MGC010 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
19 |
1376 |
c
|
ADD007 |
Adducted Thumbs, Congenital |
19 |
1377 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
1378 |
|
GTR012 |
Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies |
19 |
1379 |
c
|
ATS454 |
Autosomal Trisomy |
19 |
1380 |
|
ANG057 |
Angioosteohypotrophic Syndrome |
19 |
1381 |
|
KNS006 |
Kniest-Like Dysplasia, Lethal |
19 |
1382 |
|
BLT023 |
Bilateral Acute Depigmentation of the Iris |
19 |
1383 |
|
CRV062 |
Cervical Spina Bifida Cystica |
19 |
1384 |
|
OST047 |
Osteopenia and Sparse Hair |
19 |
1385 |
|
CHR363 |
Chromosome 17q23.1-Q23.2 Duplication Syndrome |
19 |
1386 |
|
ART113 |
Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability |
19 |
1387 |
|
MLN018 |
Moloney Syndrome |
19 |
1388 |
c
|
DFN372 |
Deafness, Y-Linked 2 |
19 |
1389 |
|
FRY007 |
Fryns Macrocephaly |
19 |
1390 |
|
SKL031 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
19 |
1391 |
P
|
ATS469 |
Autosomal Monosomy |
19 |
1392 |
|
SPN132 |
Spondyloepimetaphyseal Dysplasia with Hypotrichosis |
19 |
1393 |
|
SXC007 |
Sex-Chromosome Anomaly |
18 |
1394 |
c
|
OVR118 |
Ovarian Dysgenesis 6 |
18 |
1395 |
c
|
PRG093 |
Pregnancy Loss, Recurrent 3 |
18 |
1396 |
c
|
PTS018 |
Ptosis, Hereditary Congenital 1 |
18 |
1397 |
|
LMB056 |
Lumbosacral Spina Bifida Cystica |
18 |
1398 |
|
SPN243 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
18 |
1399 |
c
|
OCY006 |
Oocyte Maturation Defect 5 |
18 |
1400 |
|
TTR021 |
Tetrasomy 21 |
18 |
1401 |
|
HYD051 |
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis |
18 |
1402 |
|
PLY132 |
Polysyndactyly, Crossed |
18 |
1403 |
|
3Q2006 |
3q27.3 Microdeletion Syndrome |
18 |
1404 |
|
PTN009 |
Patent Urachus |
18 |
1405 |
c
|
MTR063 |
Maternal Uniparental Disomy of Chromosome 2 |
18 |
1406 |
|
DST069 |
Distal Monosomy 12q |
18 |
1407 |
|
HRS037 |
Hirschsprung Disease with Type D Brachydactyly |
18 |
1408 |
|
TRN013 |
Transient Neonatal Thrombocytopenia |
18 |
1409 |
|
BRC096 |
Brachydactyly-Distal Symphalangism Syndrome |
18 |
1410 |
c
|
OCY007 |
Oocyte Maturation Defect 6 |
18 |
1411 |
|
MSC086 |
Mesocardia |
18 |
1412 |
|
HLL011 |
Hall-Riggs Syndrome |
18 |
1413 |
|
SPR065 |
Supernumerary Nostril |
18 |
1414 |
c
|
RNL129 |
Renal Hypodysplasia/aplasia 4 |
18 |
1415 |
c
|
OVR128 |
Ovarian Dysgenesis 10 |
18 |
1416 |
|
UPP007 |
Upper Thoracic Spina Bifida Cystica |
18 |
1417 |
|
UPP008 |
Upper Thoracic Spina Bifida Aperta |
18 |
1418 |
|
CNG240 |
Congenital Unilateral Hypoplasia of Depressor Anguli Oris |
18 |
1419 |
c
|
OMP009 |
Omphalocele, Autosomal |
18 |
1420 |
|
ULN021 |
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet |
18 |
1421 |
|
DYS128 |
Dysplasia of Head of Femur, Meyer Type |
18 |
1422 |
|
HYP689 |
Hypomelia with Mullerian Duct Anomalies |
18 |
1423 |
|
CCH006 |
Cochleosaccular Degeneration with Progressive Cataracts |
18 |
1424 |
|
AMN013 |
Aminopterin/methotrexate Embryofetopathy |
18 |
1425 |
|
PRM238 |
Primary Intralymphatic Angioendothelioma |
17 |
1426 |
|
20P001 |
20p12.3 Microdeletion Syndrome |
17 |
1427 |
|
CNG284 |
Congenital Pseudoarthrosis of the Tibia |
17 |
1428 |
|
MSC080 |
Mosaic Trisomy 12 |
17 |
1429 |
|
MSC078 |
Mosaic Trisomy 17 |
17 |
1430 |
|
SYN116 |
Syndromic Obesity |
17 |
1431 |
c
|
DFN186 |
Deafness, Y-Linked 1 |
17 |
1432 |
c
|
SM1001 |
Sim1-Related Prader-Willi-Like Syndrome |
17 |
1433 |
|
CMP097 |
Complex Chromosomal Rearrangement |
17 |
1434 |
|
11Q001 |
11q22.2q22.3 Microdeletion Syndrome |
17 |
1435 |
c
|
PRG096 |
Pregnancy Loss, Recurrent 2 |
17 |
1436 |
|
6P2001 |
6p22 Microdeletion Syndrome |
17 |
1437 |
|
TYS007 |
Tyshchenko Syndrome |
17 |
1438 |
|
DST035 |
Distal Trisomy 18q |
17 |
1439 |
c
|
OCY008 |
Oocyte Maturation Defect 7 |
17 |
1440 |
|
RDL031 |
Radial Aplasia, X-Linked |
17 |
1441 |
|
HMF003 |
Hemifacial Myohyperplasia |
17 |
1442 |
|
16P005 |
16p11.2p12.2 Microduplication Syndrome |
17 |
1443 |
c
|
SLV015 |
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 |
17 |
1444 |
c
|
BRC037 |
Brachydactyly Type A7 |
17 |
1445 |
|
NNS132 |
Non-Syndromic Craniosynostosis |
17 |
1446 |
|
EPP005 |
Epiphyseal Dysplasia Hearing Loss Dysmorphism |
17 |
1447 |
|
ODN021 |
Odontotrichoungual-Digital-Palmar Syndrome |
16 |
1448 |
c
|
ERL044 |
Early-Onset Posterior Polar Cataract |
16 |
1449 |
|
PLM065 |
Pulmonary Supravalvular Stenosis |
16 |
1450 |
c
|
CNG433 |
Congenital Cornea Plana |
16 |
1451 |
|
1P2001 |
1p21.3 Microdeletion Syndrome |
16 |
1452 |
|
HYP497 |
Hyperphalangy |
16 |
1453 |
|
ALB022 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
16 |
1454 |
c
|
OCY013 |
Oocyte Maturation Defect 12 |
16 |
1455 |
|
DRM038 |
Dermotrichic Syndrome |
16 |
1456 |
c
|
OCY010 |
Oocyte Maturation Defect 9 |
16 |
1457 |
|
DDL001 |
Didelphys Uterus |
16 |
1458 |
|
DSP003 |
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions |
16 |
1459 |
|
SBP005 |
Subpulmonary Stenosis |
16 |
1460 |
|
OLV003 |
Olivopontocerebellar Atrophy Deafness |
16 |
1461 |
c
|
OCY009 |
Oocyte Maturation Defect 8 |
16 |
1462 |
|
INT226 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
16 |
1463 |
|
HYP494 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
16 |
1464 |
|
FRN047 |
Frontonasal Dysplasia with Alar Clefts |
16 |
1465 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
16 |
1466 |
|
OVR110 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
16 |
1467 |
|
CNG067 |
Congenital Cystic Eye |
16 |
1468 |
|
XSM001 |
X Small Rings |
16 |
1469 |
|
ESP040 |
Esophageal Duplication Cyst |
16 |
1470 |
|
ISL120 |
Isolated Cerebellar Agenesis |
16 |
1471 |
c
|
PTS010 |
Ptosis, Hereditary Congenital 2 |
16 |
1472 |
|
PST104 |
Postaxial Oligodactyly, Tetramelic |
15 |
1473 |
|
PLT010 |
Pili Torti Onychodysplasia |
15 |
1474 |
|
DFN014 |
Deafness Nephritis Anorectal Malformation |
15 |
1475 |
|
9Q2003 |
9q21.13 Microdeletion Syndrome |
15 |
1476 |
|
CNT114 |
Central Nervous System Malformation |
15 |
1477 |
|
CNG288 |
Congenital Absence of Upper Arm and Forearm with Hand Present |
15 |
1478 |
|
MCR242 |
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma |
15 |
1479 |
|
MTP017 |
Metaphyseal Chondrodysplasia, Kaitila Type |
15 |
1480 |
|
ACH028 |
Acheiria |
15 |
1481 |
|
PRS111 |
Persistent Fifth Aortic Arch |
15 |
1482 |
|
HYP671 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
15 |
1483 |
|
GND006 |
Gonadal Dysgenesis Xy Type Associated Anomalies |
15 |
1484 |
|
APR008 |
Aprosencephaly and Cerebellar Dysgenesis |
15 |
1485 |
c
|
OCY011 |
Oocyte Maturation Defect 10 |
15 |
1486 |
|
FTL024 |
Fetal Minoxidil Syndrome |
15 |
1487 |
|
PRT165 |
Partial Deletion of the Short Arm of Chromosome 7 |
15 |
1488 |
|
LNG081 |
Longitudinal Vaginal Septum |
15 |
1489 |
|
BRN122 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
15 |
1490 |
|
FML224 |
Familial Idiopathic Dilatation of the Right Atrium |
15 |
1491 |
|
XYL001 |
Xylt1-Cdg |
15 |
1492 |
|
PRX083 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
15 |
1493 |
c
|
NRB012 |
Neuroblastoma 5 |
15 |
1494 |
|
XQ1001 |
Xq12-Q13.3 Duplication Syndrome |
15 |
1495 |
|
AML037 |
Amelia of Upper Limb |
14 |
1496 |
|
CRB211 |
Cerebral Cortical Dysplasia |
14 |
1497 |
|
NDL022 |
Nodular Neuronal Heterotopia |
14 |
1498 |
|
FRT004 |
Fourth Branchial Cleft Anomaly |
14 |
1499 |
|
TRC112 |
Trochlea of the Humerus, Aplasia of |
14 |
1500 |
|
20Q002 |
20q11.2 Microduplication Syndrome |
14 |
1501 |
|
MSC084 |
Mosaic Genome-Wide Paternal Uniparental Disomy |
14 |
1502 |
|
JXT004 |
Juxtaposition of the Atrial Appendages |
14 |
1503 |
|
ISC019 |
Ischiovertebral Syndrome |
14 |
1504 |
c
|
NRB016 |
Neuroblastoma 7 |
14 |
1505 |
|
SBM006 |
Submucosal Cleft Palate |
14 |
1506 |
|
CCN010 |
Cocaine Embryofetopathy |
14 |
1507 |
|
CLB032 |
Coloboma of Macula and Skeletal Anomalies |
14 |
1508 |
|
CHN047 |
Chondroectodermal Dysplasia with Night Blindness |
14 |
1509 |
|
DST052 |
Distal 7q11.23 Microduplication Syndrome |
14 |
1510 |
|
LTR017 |
Lateral Facial Cleft |
14 |
1511 |
P
|
LTH050 |
Lethal Chondrodysplasia |
14 |
1512 |
|
MTR084 |
Maternal Hyperthermia-Induced Birth Defects |
14 |
1513 |
|
CRB061 |
Cerebellar Hypoplasia Tapetoretinal Degeneration |
14 |
1514 |
P
|
LRY049 |
Laryngotracheoesophageal Cleft Type 4 |
14 |
1515 |
c
|
ACQ026 |
Acquired Pseudoxanthoma Elasticum |
14 |
1516 |
|
9Q3001 |
9q31.1q31.3 Microdeletion Syndrome |
14 |
1517 |
|
14Q003 |
14q11.2 Microduplication Syndrome |
14 |
1518 |
|
INT305 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
14 |
1519 |
|
FRS008 |
Froster-Huch Syndrome |
14 |
1520 |
P
|
CNG396 |
Congenital Pulmonary Airway Malformation Type 2 |
14 |
1521 |
|
ANN018 |
Anonychia, Total, with Microcephaly |
14 |
1522 |
c
|
MTR057 |
Maternal Uniparental Disomy of Chromosome X |
14 |
1523 |
|
CNG335 |
Congenital Ectropion Uveae |
14 |
1524 |
c
|
OCY012 |
Oocyte Maturation Defect 11 |
14 |
1525 |
|
FNG014 |
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature |
14 |
1526 |
|
ART130 |
Arthrogryposis with Hyperkeratosis |
14 |
1527 |
c
|
TNX002 |
Tnxb-Related Classical-Like Ehlers-Danlos Syndrome |
14 |
1528 |
|
ECT107 |
Ectasia of the Left Atrial Appendage |
14 |
1529 |
|
INF188 |
Inferior Vena Cava Interruption Without Azygos Continuation |
14 |
1530 |
|
PRP103 |
Peripapillary Staphyloma |
14 |
1531 |
|
HRR003 |
Herrmann Opitz Craniosynostosis |
13 |
1532 |
|
MCR299 |
Microlissencephaly-Micromelia Syndrome |
13 |
1533 |
|
CRN087 |
Craniomicromelic Syndrome |
13 |
1534 |
c
|
CTR176 |
Cataract, Age-Related Nuclear |
13 |
1535 |
|
CNG587 |
Congenital Limb Malformation |
13 |
1536 |
c
|
NNP008 |
Nanophthalmos 3 |
13 |
1537 |
|
THR083 |
Third Branchial Cleft Anomaly |
13 |
1538 |
|
GLB019 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
13 |
1539 |
|
TRN045 |
True Unicornuate Uterus |
13 |
1540 |
|
SHR090 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
13 |
1541 |
|
PRT184 |
Partial Deletion of the Long Arm of Chromosome 11 |
13 |
1542 |
|
XLN144 |
X-Linked Intellectual Disability, Seemanova Type |
13 |
1543 |
|
CRT077 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
13 |
1544 |
|
CNG282 |
Congenital Knee Dislocation |
13 |
1545 |
|
CNG344 |
Congenital Anomaly of the Inferior Vena Cava |
13 |
1546 |
c
|
NRB011 |
Neuroblastoma 4 |
13 |
1547 |
|
ERL036 |
Early-Onset Posterior Subcapsular Cataract |
13 |
1548 |
|
AGN011 |
Agenesis of the Superior Vena Cava |
13 |
1549 |
c
|
INT382 |
Intermediate Atrioventricular Septal Defect |
12 |
1550 |
|
PRT180 |
Partial Deletion of the Long Arm of Chromosome 7 |
12 |
1551 |
|
CLF040 |
Cleft Lip-Retinopathy Syndrome |
12 |
1552 |
c
|
GJC002 |
Gjc2-Related Late-Onset Primary Lymphedema |
12 |
1553 |
|
INT357 |
Intestinal Malformation |
12 |
1554 |
|
THC006 |
Thickened Earlobes-Conductive Deafness Syndrome |
12 |
1555 |
|
PRT237 |
Partial Deletion of the Long Arm of Chromosome 16 |
12 |
1556 |
c
|
CNG343 |
Congenital Coronary Artery Aneurysm |
12 |
1557 |
|
PRT169 |
Partial Deletion of the Short Arm of Chromosome 11 |
12 |
1558 |
|
PRC041 |
Pericardial and Diaphragmatic Defect |
12 |
1559 |
|
FRN052 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
12 |
1560 |
|
DST089 |
Distal Trisomy 3p |
12 |
1561 |
c
|
TRS033 |
Trisomy 18-Like Syndrome |
12 |
1562 |
|
ANK018 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
12 |
1563 |
|
SYM014 |
Symbrachydactyly of Hands and Feet |
12 |
1564 |
c
|
NRB013 |
Neuroblastoma 6 |
12 |
1565 |
|
PRT186 |
Partial Duplication of the Long Arm of Chromosome X |
12 |
1566 |
|
PRT138 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
12 |
1567 |
c
|
BCK012 |
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 |
12 |
1568 |
|
DST081 |
Distal Trisomy 11q |
12 |
1569 |
|
CLF038 |
Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome |
12 |
1570 |
|
XLN142 |
X-Linked Intellectual Disability, Stevenson Type |
12 |
1571 |
c
|
VNB003 |
Van Buchem Disease Type 2 |
12 |
1572 |
|
CNG279 |
Congenital Pseudoarthrosis of the Ulna |
11 |
1573 |
c
|
MTR067 |
Maternal Uniparental Disomy of Chromosome 16 |
11 |
1574 |
|
DYS176 |
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome |
11 |
1575 |
c
|
CTD001 |
Ctdp1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
11 |
1576 |
|
DST085 |
Distal Trisomy 2q |
11 |
1577 |
|
UNL012 |
Unilateral Hemispheric Polymicrogyria |
11 |
1578 |
|
PRT200 |
Partial Duplication of the Long Arm of Chromosome 2 |
11 |
1579 |
|
CNG352 |
Congenital Stenosis of the Inferior Vena Cava |
11 |
1580 |
|
TNN014 |
Tunnel Subaortic Stenosis |
11 |
1581 |
|
ACR121 |
Acromelic Dysplasia |
11 |
1582 |
|
PRN048 |
Prenatal Benign Hypophosphatasia |
11 |
1583 |
|
DST057 |
Distal Trisomy 19q |
11 |
1584 |
|
DST076 |
Distal Trisomy 13q |
11 |
1585 |
c
|
DYS225 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
11 |
1586 |
|
SBR012 |
Subaortic Stenosis, Membranous |
11 |
1587 |
|
CNG327 |
Congenital Epstein-Barr Virus Infection |
11 |
1588 |
|
PRT106 |
Partial Duplication of the Short Arm of Chromosome X |
11 |
1589 |
|
FCL058 |
Facial Arteriovenous Malformation |
11 |
1590 |
|
CHL160 |
Childhood-Onset Steinert Myotonic Dystrophy |
11 |
1591 |
|
ONY006 |
Onychodystrophy-Anonychia |
11 |
1592 |
c
|
PTR019 |
Paternal Uniparental Disomy of Chromosome 5 |
11 |
1593 |
|
INT248 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
11 |
1594 |
|
MRN008 |
Marin-Amat Syndrome |
11 |
1595 |
|
PRT166 |
Partial Deletion of the Short Arm of Chromosome 10 |
11 |
1596 |
|
PRC042 |
Parachute Tricuspid Valve |
11 |
1597 |
|
PYR042 |
Pyramidal Molars-Abnormal Upper Lip Syndrome |
10 |
1598 |
|
SPL071 |
Split Cord Malformation Type Ii |
10 |
1599 |
|
LFT022 |
Left Sided Atrial Isomerism |
10 |
1600 |
c
|
RRR004 |
Rare Arteriovenous Malformation |
10 |
1601 |
|
PRT202 |
Partial Duplication of the Long Arm of Chromosome 6 |
10 |
1602 |
|
DBR003 |
Dobrow Syndrome |
10 |
1603 |
|
3Q2004 |
3q26 Microduplication Syndrome |
10 |
1604 |
c
|
CNG406 |
Congenital Pulmonary Airway Malformation Type 0 |
10 |
1605 |
|
PRT171 |
Partial Deletion of the Short Arm of Chromosome 18 |
10 |
1606 |
c
|
PTL011 |
Patella, Familial Recurrent Dislocation of |
10 |
1607 |
|
MCR301 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
10 |
1608 |
|
PRM302 |
Paramedian Facial Cleft |
10 |
1609 |
|
DST078 |
Distal Trisomy 6q |
10 |
1610 |
|
SYN027 |
Syngnathia Cleft Palate |
10 |
1611 |
c
|
PRT182 |
Partial Monosomy of the Long Arm of Chromosome 9 |
10 |
1612 |
|
FML336 |
Familial Patent Arterial Duct |
10 |
1613 |
|
CRN207 |
Coronary Sinus Stenosis |
10 |
1614 |
|
PRT160 |
Partial Deletion of the Short Arm of Chromosome 4 |
10 |
1615 |
c
|
EZH001 |
Ezh2-Related Overgrowth |
10 |
1616 |
|
PRT231 |
Partial Duplication of Chromosome 4 |
10 |
1617 |
c
|
BRC035 |
Brachydactyly Type A5 |
10 |
1618 |
|
PRT167 |
Partial Deletion of the Short Arm of Chromosome 9 |
10 |
1619 |
|
BLK004 |
Blake Pouch Cyst |
10 |
1620 |
|
XLN252 |
X-Linked Severe Syndromic Thoracic Aortic Aneurysm and Dissection |
10 |
1621 |
|
KLH007 |
Klhl7-Related Bohring-Opitz-Like/cold-Induced Sweating-Like Overlap Syndrome |
10 |
1622 |
|
PRT179 |
Partial Deletion of the Long Arm of Chromosome 6 |
10 |
1623 |
|
PRT236 |
Partial Deletion of the Long Arm of Chromosome 15 |
10 |
1624 |
|
PRT249 |
Partial Autosomal Monosomy |
10 |
1625 |
|
OMP003 |
Omphalomesenteric Cyst |
9 |
1626 |
c
|
SCN085 |
Secondary Ectropion |
9 |
1627 |
|
INV017 |
Inverse Marcus-Gunn Phenomenon |
9 |
1628 |
|
PRT218 |
Partial Duplication of the Short Arm of Chromosome 3 |
9 |
1629 |
|
PRT195 |
Partial Duplication of the Long Arm of Chromosome 8 |
9 |
1630 |
|
DST088 |
Distal Trisomy 1p36 |
9 |
1631 |
c
|
FML317 |
Familial Monosomy 7 Syndrome |
9 |
1632 |
P
|
PRM337 |
Primary Osteolysis |
9 |
1633 |
c
|
MTR064 |
Maternal Uniparental Disomy of Chromosome 22 |
9 |
1634 |
|
PRT238 |
Partial Deletion of the Long Arm of Chromosome 17 |
9 |
1635 |
|
PRT241 |
Partial Deletion of the Long Arm of Chromosome 20 |
9 |
1636 |
|
DST087 |
Distal Trisomy 7p |
9 |
1637 |
|
PRT225 |
Partial Duplication of Chromosome 17 |
9 |
1638 |
|
CNG355 |
Congenital Eyelid Retraction |
9 |
1639 |
|
TRC108 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
9 |
1640 |
|
ISL071 |
Isolated Congenital Ectropion |
9 |
1641 |
c
|
CRB128 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 |
9 |
1642 |
|
MXD041 |
Mixed Cystic Lymphatic Malformation |
9 |
1643 |
c
|
LCL023 |
Localized Dystrophic Epidermolysis Bullosa |
9 |
1644 |
|
HRS009 |
Hirschsprung Nail Hypoplasia Dysmorphism |
9 |
1645 |
|
PRT235 |
Partial Deletion of the Long Arm of Chromosome 14 |
9 |
1646 |
|
CLS028 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form |
9 |
1647 |
|
PRT226 |
Partial Duplication of Chromosome 16 |
9 |
1648 |
|
CNG287 |
Congenital Absence of Both Forearm and Hand |
9 |
1649 |
|
JNT005 |
Joint Formation Defects |
9 |
1650 |
|
PRT239 |
Partial Deletion of the Long Arm of Chromosome 18 |
9 |
1651 |
c
|
MTR065 |
Maternal Uniparental Disomy of Chromosome 21 |
9 |
1652 |
|
CNG602 |
Congenital Anomaly of the Great Arteries |
9 |
1653 |
|
PRT146 |
Partial Deletion of Chromosome 8 |
8 |
1654 |
|
PRT242 |
Partial Deletion of the Long Arm of Chromosome 21 |
8 |
1655 |
|
PHK009 |
Phakomatosis Cesiomarmorata |
8 |
1656 |
|
MTP038 |
Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome |
8 |
1657 |
|
PRT197 |
Partial Duplication of the Long Arm of Chromosome 15 |
8 |
1658 |
|
PRT217 |
Partial Duplication of the Short Arm of Chromosome 4 |
8 |
1659 |
c
|
LRY050 |
Laryngotracheoesophageal Cleft Type 2 |
8 |
1660 |
|
CHN052 |
Choanal Atresia, Bilateral |
8 |
1661 |
|
CCH012 |
Cochleovestibular Malformation |
8 |
1662 |
|
DGS009 |
Digestive Tract Malformation |
8 |
1663 |
c
|
EDR001 |
Eed-Related Overgrowth |
8 |
1664 |
c
|
SCL053 |
Sclerocornea, Autosomal Dominant |
8 |
1665 |
c
|
CRB127 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 3 |
8 |
1666 |
c
|
ISL038 |
Isolated Focal Cortical Dysplasia Type Ib |
8 |
1667 |
|
EXT043 |
External Auditory Canal Aplasia/hypoplasia |
8 |
1668 |
|
PRT149 |
Partial Deletion of Chromosome 7 |
8 |
1669 |
|
PRT199 |
Partial Duplication of the Long Arm of Chromosome 13 |
8 |
1670 |
|
PRT234 |
Partial Duplication of Chromosome 7 |
8 |
1671 |
|
PRT174 |
Partial Deletion of the Long Arm of Chromosome 1 |
8 |
1672 |
|
PRT223 |
Partial Duplication of Chromosome 11 |
8 |
1673 |
|
PRT150 |
Partial Deletion of the Long Arm of Chromosome 12 |
8 |
1674 |
|
1P3003 |
1p35.2 Microdeletion Syndrome |
8 |
1675 |
|
PRT176 |
Partial Deletion of the Long Arm of Chromosome 3 |
8 |
1676 |
|
PRT219 |
Partial Duplication of the Short Arm of Chromosome 6 |
8 |
1677 |
|
ISL023 |
Isolated Congenital Auditory Ossicle Malformation |
8 |
1678 |
|
CNG249 |
Congenital Pulmonary Venous Return Anomaly |
8 |
1679 |
|
PRT192 |
Partial Duplication of the Long Arm of Chromosome 22 |
8 |
1680 |
|
12Q001 |
12q15q21.1 Microdeletion Syndrome |
8 |
1681 |
c
|
PRT194 |
Partial Trisomy of the Long Arm of Chromosome 9 |
8 |
1682 |
c
|
KRN003 |
Kernicterus Due to Isoimmunization |
8 |
1683 |
|
DZX006 |
Diazoxide-Resistant Focal Hyperinsulinism |
7 |
1684 |
|
7Q3001 |
7q31 Microdeletion Syndrome |
7 |
1685 |
|
FML352 |
Familial Scaphocephaly Syndrome |
7 |
1686 |
|
NND009 |
Non-Distal Trisomy 9q |
7 |
1687 |
|
LCR016 |
Lacrimal Drainage System Anomaly |
7 |
1688 |
|
TBL020 |
Tubular Duplication of the Esophagus |
7 |
1689 |
|
IDP088 |
Idiopathic Isolated Micropenis |
7 |
1690 |
|
ECS003 |
Eec Syndrome and Related Disorders |
7 |
1691 |
|
HYP850 |
Hypoglossia/aglossia |
7 |
1692 |
|
CNG286 |
Congenital Absence of Thigh and Lower Leg with Foot Present |
7 |
1693 |
c
|
PRT170 |
Partial Monosomy of the Short Arm of Chromosome 17 |
7 |
1694 |
|
SYN096 |
Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication |
7 |
1695 |
|
CNG610 |
Congenital Hypoplasia of Thumb |
7 |
1696 |
|
PRM160 |
Premature Closure of the Arterial Duct |
7 |
1697 |
c
|
46X063 |
46,xy Disorder of Sex Development Due to Impaired Androgen Production |
7 |
1698 |
c
|
MTR079 |
Maternal Uniparental Disomy of Chromosome 13 |
7 |
1699 |
c
|
PTR022 |
Paternal Uniparental Disomy of Chromosome 7 |
7 |
1700 |
|
PRT168 |
Partial Deletion of the Short Arm of Chromosome 16 |
7 |
1701 |
c
|
PTR023 |
Paternal Uniparental Disomy of Chromosome 13 |
7 |
1702 |
c
|
CNG251 |
Congenital Pericardium Anomaly |
7 |
1703 |
c
|
LSS019 |
Lissencephaly with Cerebellar Hypoplasia Type E |
7 |
1704 |
|
PRT147 |
Partial Deletion of Chromosome 9 |
7 |
1705 |
|
PRT216 |
Partial Trisomy of Chromosome 20 |
7 |
1706 |
|
PRT213 |
Partial Duplication of Chromosome 19 |
7 |
1707 |
|
PRT201 |
Partial Duplication of the Long Arm of Chromosome 3 |
7 |
1708 |
|
PRT222 |
Partial Duplication of Chromosome 8 |
7 |
1709 |
c
|
ATS003 |
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome |
6 |
1710 |
|
PRS138 |
Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium |
6 |
1711 |
|
OKH001 |
Okihiro Syndrome Due to a Point Mutation |
6 |
1712 |
|
PRT189 |
Partial Duplication of the Long Arm of Chromosome 19 |
6 |
1713 |
|
PRT191 |
Partial Duplication of the Long Arm of Chromosome 17 |
6 |
1714 |
|
GST110 |
Gastroduodenal Malformation |
6 |
1715 |
c
|
LSS023 |
Lissencephaly with Cerebellar Hypoplasia Type C |
6 |
1716 |
|
CMM026 |
Common Cystic Lymphatic Malformation |
6 |
1717 |
|
CNG345 |
Congenital Anomaly of Superior Vena Cava |
6 |
1718 |
|
ERL041 |
Early-Onset Zonular Cataract |
6 |
1719 |
|
FCL034 |
Facial Dermoid Cyst |
6 |
1720 |
|
LWR011 |
Lower Lip Fistula |
6 |
1721 |
c
|
BCK011 |
Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion |
6 |
1722 |
c
|
CLS057 |
Celsr1-Related Late-Onset Primary Lymphedema |
6 |
1723 |
|
RRT021 |
Rare Otorhinolaryngological Malformation |
6 |
1724 |
c
|
TTL014 |
Total Autosomal Monosomy |
6 |
1725 |
|
ISL044 |
Isolated Arhinencephaly |
6 |
1726 |
|
FML194 |
Familial Clubfoot with or Without Associated Lower Limb Anomalies |
6 |
1727 |
|
DBL016 |
Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy |
6 |
1728 |
|
PRT248 |
Partial Autosomal Trisomy/tetrasomy |
6 |
1729 |
|
PRT157 |
Partial Deletion of Chromosome 19 |
6 |
1730 |
|
EXT047 |
Extralobar Congenital Pulmonary Sequestration |
6 |
1731 |
c
|
RRD061 |
Rare Disorder with Ptosis |
6 |
1732 |
|
PLM178 |
Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome |
6 |
1733 |
|
TRM028 |
Terminal Transverse Limb Defect |
6 |
1734 |
|
NNS064 |
Non-Syndromic Central Nervous System Malformation |
5 |
1735 |
|
NSN002 |
Nose and Cavum Anomaly |
5 |
1736 |
|
PRT227 |
Partial Deletion of the Long Arm of Chromosome 22 |
5 |
1737 |
|
PRT243 |
Partial Duplication of the Short Arm of Chromosome 1 |
5 |
1738 |
|
ISL117 |
Isolated Congenital Radial Head Dislocation |
5 |
1739 |
|
NNS148 |
Non-Syndromic Unisutural Craniosynostosis |
5 |
1740 |
|
CNG353 |
Congenital Partial Agenesis of Pericardium |
5 |
1741 |
|
PRT139 |
Partial Bilateral Aplasia of the Mullerian Ducts |
5 |
1742 |
|
CNG317 |
Congenital Genu Flexum |
5 |
1743 |
|
ABN010 |
Abnormal Number of Coronary Ostia |
5 |
1744 |
|
BCK010 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion |
5 |
1745 |
|
CNG582 |
Congenital Disorder of Glycosylation with Deafness As a Major Feature |
5 |
1746 |
|
FNG012 |
Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome |
5 |
1747 |
|
MLP009 |
Malposition of a Coronary Ostium |
5 |
1748 |
|
KDM002 |
Kdm3b-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome |
5 |
1749 |
c
|
KLH006 |
Klhl7-Related Bohring-Opitz-Like Syndrome |
5 |
1750 |
|
SPR109 |
Supratip Dysplasia |
5 |
1751 |
|
STR075 |
Straddling or Overriding Tricuspid Valve |
5 |
1752 |
|
CNG537 |
Congenital Anomaly of the Tricuspid Valve Chordae |
5 |
1753 |
P
|
PRM346 |
Primary Lymphedema Without Systemic or Visceral Involvement |
5 |
1754 |
|
LTH049 |
Lethal Multiple Congenital Anomalies/dysmorphic Syndrome |
5 |
1755 |
|
SYN160 |
Syndromic Intestinal Malformation |
5 |
1756 |
|
SYN097 |
Syndromic Urogenital Tract Malformation |
5 |
1757 |
|
RRP026 |
Rare Palpebral Disorder |
5 |
1758 |
P
|
YCH005 |
Y Chromosome Number Anomaly |
5 |
1759 |
|
PRT247 |
Partial Duplication of the Short Arm of Chromosome 19 |
5 |
1760 |
|
HMZ005 |
Homozygous 2p21 Microdeletion Syndrome |
5 |
1761 |
|
MDN007 |
Median Cleft Lip/mandibule |
5 |
1762 |
|
CNG493 |
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome |
5 |
1763 |
|
PRM134 |
Primary Laryngeal Lymphangioma |
5 |
1764 |
|
ISL130 |
Isolated Congenital Entropion |
5 |
1765 |
|
SYN156 |
Syndrome with Limb Malformations As a Major Feature |
5 |
1766 |
|
NNS062 |
Non-Syndromic Limb Malformation |
5 |
1767 |
c
|
XCH002 |
X Chromosome Number Anomaly |
5 |
1768 |
|
NNS142 |
Non-Syndromic Multisutural Craniosynostosis |
5 |
1769 |
|
ISL127 |
Isolated Blepharochalasis |
5 |
1770 |
c
|
ISL039 |
Isolated Focal Cortical Dysplasia Type Ic |
5 |
1771 |
P
|
ISL048 |
Isolated Cerebellar Vermis Agenesis |
5 |
1772 |
|
SYN144 |
Syndromic Outer Canthal Malposition |
5 |
1773 |
|
CRN313 |
Corneodysgenesis |
5 |
1774 |
|
OVR117 |
Overgrowth Syndrome with 2q37 Translocation |
5 |
1775 |
|
APR011 |
Aprosencephaly/atelencephaly Spectrum |
5 |
1776 |
|
RSP024 |
Respiratory or Mediastinal Malformation |
5 |
1777 |
|
NNS137 |
Non-Syndromic Pansynostosis |
5 |
1778 |
|
NNS104 |
Non-Syndromic Anorectal Malformation with Rectovesical Fistula |
4 |
1779 |
|
STR107 |
Sterol Biosynthesis Disorder |
4 |
1780 |
|
ATR096 |
Atrioventricular Valve Anomaly |
4 |
1781 |
|
VSC061 |
Vascular Anomaly or Angioma |
4 |
1782 |
c
|
ATS022 |
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract |
4 |
1783 |
|
CYS048 |
Cysts and Fistulae of the Face and Oral Cavity |
4 |
1784 |
|
NNS108 |
Non-Syndromic Anorectal Malformation with Rectourethral Fistula |
4 |
1785 |
|
CNG598 |
Congenital Malformation of the Eye with Glaucoma As a Major Feature |
4 |
1786 |
|
DRG019 |
Drug-Related Renal Tubular Dysgenesis |
4 |
1787 |
|
SYN162 |
Syndromic Esophageal Malformation |
4 |
1788 |
c
|
46X062 |
46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect |
4 |
1789 |
|
CNG270 |
Congenital Primary Megaureter, Obstructed Form |
4 |
1790 |
|
MCR377 |
Microblepharon-Ablephara Syndrome |
4 |
1791 |
|
CNG331 |
Congenital Bilateral Megacalycosis |
4 |
1792 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
1793 |
|
OTH025 |
Other Syndrome with Lissencephaly As a Major Feature |
4 |
1794 |
|
NNS111 |
Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Bulbar Type |
4 |
1795 |
P
|
46X065 |
46,xy Disorder of Gonadal Development |
4 |
1796 |
|
OVR124 |
Overgrowth/obesity Syndrome |
4 |
1797 |
|
NNS109 |
Non-Syndromic Anorectal Malformation with Perineal Fistula |
4 |
1798 |
|
CNG269 |
Congenital Primary Megaureter, Refluxing Form |
4 |
1799 |
c
|
PRM147 |
Primary Megaureter, Adult-Onset Form |
4 |
1800 |
|
CMM017 |
Communicating Congenital Bronchopulmonary-Foregut Malformation |
4 |
1801 |
|
DPH030 |
Diaphragmatic or Abdominal Wall Malformation |
4 |
1802 |
|
MLF008 |
Malformation of the Cerebellar Hemispheres |
4 |
1803 |
|
SYN147 |
Syndromic Ankyloblepharon Filiforme Adnatum |
4 |
1804 |
|
CNG268 |
Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form |
4 |
1805 |
|
LNS009 |
Lens Size Anomaly |
4 |
1806 |
|
MCR187 |
Macrodactyly of Fingers, Bilateral |
4 |
1807 |
|
46X070 |
46,xx Disorder of Sex Development Induced by Fetoplacental Androgens Excess |
4 |
1808 |
|
SYN159 |
Syndromic Diaphragmatic or Abdominal Wall Malformation |
4 |
1809 |
|
SXC005 |
Sex-Chromosome Number Anomaly |
4 |
1810 |
|
EYL007 |
Eyelid Border Anomaly |
4 |
1811 |
|
ORM003 |
Oromandibular-Limb Anomalies Syndrome |
4 |
1812 |
|
HYP178 |
Hyperthermia Induced Defects |
4 |
1813 |
|
SYN161 |
Syndromic Visceral Malformation |
4 |
1814 |
|
NNS053 |
Non Syndromic Limb Overgrowth |
4 |
1815 |
|
CNG316 |
Congenital Vertical Talus, Bilateral |
4 |
1816 |
|
NNS060 |
Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy |
3 |
1817 |
|
CMP099 |
Complete Hemimelia |
3 |
1818 |
|
DYS202 |
Dysostosis with Limb Anomaly As a Major Feature |
3 |
1819 |
|
DYS207 |
Dysostosis with Brachydactyly Without Extraskeletal Manifestations |
3 |
1820 |
|
SYN163 |
Syndromic Gastroduodenal Malformation |
3 |
1821 |
|
TRT023 |
Teratogenic Pierre Robin Syndrome |
3 |
1822 |
|
MSM021 |
Mesomelic and Rhizo-Mesomelic Dysplasia |
3 |
1823 |
|
NNS068 |
Non-Syndromic Intestinal Malformation |
3 |
1824 |
|
SYN130 |
Syndromic Lacrimal System Disorder |
3 |
1825 |
|
NNS098 |
Non-Syndromic Anorectal Malformation with Rectovaginal Fistula |
3 |
1826 |
|
MLF007 |
Malformation Syndrome with Hamartosis |
3 |
1827 |
|
PRR037 |
Pierre Robin Syndrome Associated with a Chromosomal Anomaly |
3 |
1828 |
|
INF180 |
Infantile Hemangioma of Rare Localization |
3 |
1829 |
|
OTH026 |
Other Syndrome with a Central Nervous System Malformation As a Major Feature |
3 |
1830 |
|
NNS051 |
Non-Syndromic Urogenital Tract Malformation of Male |
3 |
1831 |
|
NNS102 |
Non-Syndromic Anorectal Malformation with Rectal Atresia |
3 |
1832 |
|
ISL152 |
Isolated Congenital Hypoglossia |
3 |
1833 |
|
PRR039 |
Pierre Robin Syndrome Associated with Branchial Archs Anomalies |
3 |
1834 |
|
NNS099 |
Non-Syndromic Anorectal Malformation with H-Type Fistula |
3 |
1835 |
|
NNS069 |
Non-Syndromic Esophageal Malformation |
3 |
1836 |
|
PRR036 |
Pierre Robin Syndrome Associated with Collagen Disease |
3 |
1837 |
|
CNT113 |
Central Nervous System Cystic Malformation |
3 |
1838 |
|
NNS105 |
Non-Syndromic Anorectal Malformation with Vestibular Fistula |
3 |
1839 |
c
|
46X067 |
46,xx Disorder of Gonadal Development |
3 |
1840 |
|
TRN077 |
Transposition of the Great Arteries and Conotruncal Cardiac Anomaly |
3 |
1841 |
|
NNS052 |
Non-Syndromic Urogenital Tract Malformation of Male and Female |
2 |
1842 |
|
CHR693 |
Chromosomal Disease with Overgrowth |
2 |
1843 |
|
ISL162 |
Isolated Female Hypospadias |
2 |
1844 |
|
XCH003 |
X Chromosome Number Anomaly with Female Phenotype |
2 |
1845 |
|
SYN107 |
Syndrome or Malformation Associated with Head and Neck Malformations |
2 |
1846 |
P
|
TST021 |
Testicular Germ Cell Tumor |
58 |
1847 |
c
|
TST046 |
Testicular Germ Cell Tumor 1 |
32 |
1848 |
|
UND001 |
Undifferentiated Embryonal Sarcoma of the Liver |
21 |
1849 |
c
|
HYD046 |
Hydatidiform Mole, Recurrent, 1 |
60 |
1850 |
P
|
END039 |
Endodermal Sinus Tumor |
44 |
1851 |
P
|
RCR026 |
Recurrent Hydatidiform Mole |
23 |
1852 |
c
|
ADL047 |
Adult Endodermal Sinus Tumor |
7 |
1853 |
|
SPR008 |
Supratentorial Primitive Neuroectodermal Tumor |
41 |
1854 |
c
|
PRS122 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
41 |
1855 |
|
MLT178 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
38 |
1856 |
|
CNT115 |
Central Nervous System Embryonal Tumor |
24 |
1857 |
|
WLL022 |
Well-Differentiated Fetal Adenocarcinoma of the Lung |
17 |
1858 |
c
|
PRS137 |
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant |
11 |
1859 |
P
|
HYP086 |
Hypothyroidism |
68 |
1860 |
c
|
CNG006 |
Congenital Hypothyroidism |
64 |
1861 |
P
|
LFT003 |
Left Ventricular Noncompaction |
55 |
1862 |
|
GRC001 |
Gracile Syndrome |
53 |
1863 |
c
|
NML025 |
Nemaline Myopathy 8 |
40 |
1864 |
P
|
EMB018 |
Embryonal Tumor with Multilayered Rosettes, C19mc-Altered |
39 |
1865 |
c
|
LFT017 |
Left Ventricular Noncompaction 8 |
29 |
1866 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
29 |
1867 |
c
|
HYP488 |
Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function |
28 |
1868 |
c
|
LFT018 |
Left Ventricular Noncompaction 10 |
28 |
1869 |
c
|
CNT101 |
Central Congenital Hypothyroidism |
26 |
1870 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
20 |
1871 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
19 |
1872 |
c
|
LFT011 |
Left Ventricular Noncompaction 2 |
19 |
1873 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
16 |
1874 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
1875 |
c
|
CNG543 |
Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies |
14 |
1876 |
c
|
RRH009 |
Rare Hypothyroidism |
12 |
1877 |
c
|
CNG591 |
Congenital Hypothyroidism Due to Developmental Anomaly |
8 |
1878 |
|
CHL048 |
Childhood Teratocarcinoma of the Testis |
6 |
1879 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma |
6 |
1880 |
c
|
TRN076 |
Transient Congenital Hypothyroidism Due to Neonatal Factor |
5 |
1881 |
c
|
HYP232 |
Hypothyroidism Due to Iodide Transport Defect |
5 |
1882 |
c
|
TRN075 |
Transient Congenital Hypothyroidism Due to Maternal Factor |
5 |
1883 |
c
|
RRD014 |
Rare Adult Hypothyroidism |
4 |
1884 |
P
|
OST002 |
Osteoporosis |
82 |
1885 |
|
PHN003 |
Phenylketonuria |
76 |
1886 |
P
|
DMN001 |
Diamond-Blackfan Anemia |
74 |
1887 |
|
BRT054 |
Brittle Bone Disorder |
73 |
1888 |
P
|
CRD224 |
Cardiofaciocutaneous Syndrome 1 |
70 |
1889 |
P
|
TRN020 |
Turner Syndrome |
70 |
1890 |
|
PPL049 |
Papillon-Lefevre Syndrome |
70 |
1891 |
|
CST001 |
Costello Syndrome |
70 |
1892 |
c
|
MCL062 |
Mucolipidosis Ii Alpha/beta |
69 |
1893 |
|
BLM001 |
Bloom Syndrome |
66 |
1894 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
66 |
1895 |
|
ACH004 |
Achondroplasia |
66 |
1896 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
66 |
1897 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
65 |
1898 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
65 |
1899 |
c
|
DMN023 |
Diamond-Blackfan Anemia 1 |
64 |
1900 |
c
|
ANM038 |
Anemia, Autoimmune Hemolytic |
64 |
1901 |
P
|
HML002 |
Hemolytic Anemia |
63 |
1902 |
P
|
OST001 |
Osteopetrosis |
63 |
1903 |
P
|
LKD017 |
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism |
63 |
1904 |
|
PHL006 |
Phelan-Mcdermid Syndrome |
63 |
1905 |
c
|
USH036 |
Usher Syndrome, Type I |
63 |
1906 |
P
|
USH001 |
Usher Syndrome |
62 |
1907 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
62 |
1908 |
c
|
LYS019 |
Loeys-Dietz Syndrome 1 |
62 |
1909 |
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
61 |
1910 |
|
ENC044 |
Enchondromatosis, Multiple, Ollier Type |
61 |
1911 |
|
CRN051 |
Craniofacial Microsomia |
61 |
1912 |
c
|
MCP004 |
Mucopolysaccharidosis Iv |
61 |
1913 |
|
DBL002 |
Double Outlet Right Ventricle |
61 |
1914 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
60 |
1915 |
|
CNG184 |
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects |
60 |
1916 |
P
|
HMN010 |
Hemangioma |
60 |
1917 |
|
HYP706 |
Hypermobile Ehlers-Danlos Syndrome |
60 |
1918 |
|
RGH009 |
Right Atrial Isomerism |
60 |
1919 |
P
|
MCR010 |
Microcephaly |
59 |
1920 |
c
|
LPD033 |
Lipodystrophy, Congenital Generalized, Type 2 |
59 |
1921 |
|
TTZ003 |
Tietz Albinism-Deafness Syndrome |
59 |
1922 |
c
|
LYS021 |
Loeys-Dietz Syndrome 3 |
59 |
1923 |
c
|
ORF040 |
Orofaciodigital Syndrome Viii |
59 |
1924 |
|
OCC006 |
Occipital Horn Syndrome |
59 |
1925 |
|
DFN344 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome |
59 |
1926 |
c
|
LSS005 |
Lissencephaly 1 |
59 |
1927 |
c
|
SPN330 |
Spondylocostal Dysostosis 5 |
58 |
1928 |
c
|
CCK008 |
Cockayne Syndrome a |
58 |
1929 |
|
BLR001 |
Biliary Atresia |
58 |
1930 |
|
SPN028 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
58 |
1931 |
|
EPP024 |
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus |
57 |
1932 |
|
CRN276 |
Corneal Endothelial Dystrophy |
57 |
1933 |
|
MCR013 |
Microphthalmia |
57 |
1934 |
P
|
BRN006 |
Branchiootorenal Syndrome |
57 |
1935 |
P
|
CRP023 |
Carpenter Syndrome 1 |
57 |
1936 |
P
|
JNC001 |
Junctional Epidermolysis Bullosa |
57 |
1937 |
P
|
MLT007 |
Multiple Epiphyseal Dysplasia |
57 |
1938 |
|
DNN002 |
Donnai-Barrow Syndrome |
57 |
1939 |
c
|
MCP048 |
Mucopolysaccharidosis, Type Ivb |
56 |
1940 |
P
|
VSC013 |
Visceral Heterotaxy |
56 |
1941 |
P
|
CCH009 |
Coach Syndrome 1 |
56 |
1942 |
P
|
OTS014 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
56 |
1943 |
P
|
EPD116 |
Epidermolysis Bullosa, Junctional 5b, with Pyloric Atresia |
56 |
1944 |
|
LRN001 |
Laurence-Moon Syndrome |
56 |
1945 |
P
|
INT099 |
Intrahepatic Cholestasis of Pregnancy |
56 |
1946 |
|
FCL081 |
Focal Cortical Dysplasia, Type Ii |
56 |
1947 |
|
CMP034 |
Complete Androgen Insensitivity Syndrome |
56 |
1948 |
|
KBG001 |
Kbg Syndrome |
55 |
1949 |
c
|
ANM043 |
Anemia, Congenital Dyserythropoietic, Type Ia |
55 |
1950 |
|
PLC005 |
Placental Insufficiency |
55 |
1951 |
c
|
USH037 |
Usher Syndrome, Type Iia |
55 |
1952 |
|
VCS001 |
Vici Syndrome |
55 |
1953 |
P
|
MTR003 |
Mitral Valve Stenosis |
55 |
1954 |
|
CNN011 |
Cenani-Lenz Syndactyly Syndrome |
55 |
1955 |
|
OPT054 |
Opitz-Kaveggia Syndrome |
55 |
1956 |
c
|
LYS018 |
Loeys-Dietz Syndrome 2 |
55 |
1957 |
P
|
HYP050 |
Hyperinsulinemic Hypoglycemia |
55 |
1958 |
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
55 |
1959 |
c
|
LPD032 |
Lipodystrophy, Congenital Generalized, Type 1 |
54 |
1960 |
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
54 |
1961 |
|
MGL038 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
54 |
1962 |
c
|
OST164 |
Osteoporosis, Juvenile |
54 |
1963 |
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
54 |
1964 |
|
ACR058 |
Acrofacial Dysostosis 1, Nager Type |
54 |
1965 |
c
|
ACH041 |
Achondrogenesis, Type Ii |
54 |
1966 |
|
OCL008 |
Oculopharyngeal Muscular Dystrophy |
54 |
1967 |
|
CRD180 |
Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma |
54 |
1968 |
c
|
LYS017 |
Loeys-Dietz Syndrome 4 |
53 |
1969 |
c
|
ANM042 |
Anemia, Congenital Dyserythropoietic, Type Ii |
53 |
1970 |
|
FRY006 |
Fryns Microphthalmia Syndrome |
53 |
1971 |
P
|
MRT010 |
Martsolf Syndrome 1 |
53 |
1972 |
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
52 |
1973 |
c
|
ICH069 |
Ichthyosis, Congenital, Autosomal Recessive 4b |
52 |
1974 |
P
|
ANN002 |
Anencephaly |
52 |
1975 |
c
|
SPN310 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
52 |
1976 |
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
52 |
1977 |
|
SCH068 |
Schwartz-Jampel Syndrome, Type 1 |
52 |
1978 |
|
CLF037 |
Cleft Lip/palate-Ectodermal Dysplasia Syndrome |
52 |
1979 |
P
|
DSR090 |
Disorder of Sexual Development |
52 |
1980 |
|
GLY031 |
Glycoproteinosis |
52 |
1981 |
c
|
BRC051 |
Brachydactyly, Type B1 |
51 |
1982 |
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
51 |
1983 |
|
PLM041 |
Pulmonary Valve Stenosis |
51 |
1984 |
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
51 |
1985 |
P
|
KRT028 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
51 |
1986 |
|
ACR002 |
Acrocapitofemoral Dysplasia |
51 |
1987 |
|
EHL079 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
51 |
1988 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
50 |
1989 |
c
|
USH040 |
Usher Syndrome, Type Id |
50 |
1990 |
c
|
LYS020 |
Loeys-Dietz Syndrome 5 |
50 |
1991 |
|
CNT056 |
Cantu Syndrome |
50 |
1992 |
c
|
OST126 |
Osteopetrosis, Autosomal Recessive 1 |
50 |
1993 |
|
MLB001 |
Mulibrey Nanism |
50 |
1994 |
|
HYR002 |
Hoyeraal Hreidarsson Syndrome |
50 |
1995 |
P
|
VHW001 |
Vohwinkel Syndrome |
50 |
1996 |
P
|
HYD033 |
Hydrolethalus Syndrome 1 |
50 |
1997 |
P
|
ACH011 |
Achondrogenesis |
50 |
1998 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
50 |
1999 |
|
WDM004 |
Wiedemann-Steiner Syndrome |
50 |
2000 |
P
|
HLL001 |
Hallermann-Streiff Syndrome |
50 |
2001 |
|
GLD006 |
Goldberg-Shprintzen Syndrome |
50 |
2002 |
|
MRS004 |
Marshall-Smith Syndrome |
50 |
2003 |
P
|
PRT042 |
Parietal Foramina |
50 |
2004 |
P
|
KLF001 |
Kleefstra Syndrome |
49 |
2005 |
|
ACR043 |
Acromicric Dysplasia |
49 |
2006 |
c
|
NNN028 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 |
49 |
2007 |
c
|
BRC109 |
Brachydactyly, Type E1 |
49 |
2008 |
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
49 |
2009 |
c
|
MCR239 |
Microcephaly 5, Primary, Autosomal Recessive |
49 |
2010 |
P
|
ORF001 |
Orofaciodigital Syndrome |
49 |
2011 |
P
|
CNG003 |
Congenital Dyserythropoietic Anemia |
48 |
2012 |
c
|
USH039 |
Usher Syndrome, Type Ic |
48 |
2013 |
c
|
CNG027 |
Congenital Hemolytic Anemia |
48 |
2014 |
|
CRR002 |
Currarino Syndrome |
48 |
2015 |
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
2016 |
|
PLY024 |
Polymicrogyria |
48 |
2017 |
P
|
GND004 |
Gonadal Dysgenesis |
48 |
2018 |
|
MCR103 |
Microtia |
48 |
2019 |
|
CRB142 |
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant |
48 |
2020 |
|
OLV001 |
Olivopontocerebellar Atrophy |
48 |
2021 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
48 |
2022 |
|
KNG004 |
King-Denborough Syndrome |
48 |
2023 |
|
HYP059 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
48 |
2024 |
|
SPN402 |
Spinal Muscular Atrophy, X-Linked 2 |
48 |
2025 |
c
|
OST129 |
Osteopetrosis, Autosomal Recessive 2 |
48 |
2026 |
|
HYP596 |
Hypophosphatasia, Childhood |
48 |
2027 |
c
|
USH020 |
Usher Syndrome, Type Iic |
48 |
2028 |
c
|
CRN134 |
Cornelia De Lange Syndrome 2 |
47 |
2029 |
|
LBR025 |
Lobar Holoprosencephaly |
47 |
2030 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
47 |
2031 |
c
|
ANT085 |
Anterior Segment Dysgenesis 5 |
47 |
2032 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
47 |
2033 |
c
|
BRW009 |
Brown-Vialetto-Van Laere Syndrome 1 |
47 |
2034 |
|
CHR492 |
Chromosome 13q14 Deletion Syndrome |
47 |
2035 |
|
MLL011 |
Mullerian Aplasia and Hyperandrogenism |
47 |
2036 |
|
CRB147 |
Cerebellofaciodental Syndrome |
47 |
2037 |
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
2038 |
c
|
OST120 |
Osteopetrosis, Autosomal Recessive 5 |
47 |
2039 |
|
WHT019 |
White-Sutton Syndrome |
46 |
2040 |
c
|
BRN131 |
Branchiootorenal Syndrome 1 |
46 |
2041 |
|
VNS013 |
Venous Malformations, Multiple Cutaneous and Mucosal |
46 |
2042 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
46 |
2043 |
|
SHR044 |
Short Rib-Polydactyly Syndrome |
46 |
2044 |
c
|
BRW008 |
Brown-Vialetto-Van Laere Syndrome 2 |
46 |
2045 |
c
|
HYP349 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
46 |
2046 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
46 |
2047 |
c
|
MCR124 |
Microphthalmia, Isolated 1 |
46 |
2048 |
P
|
PRX021 |
Proximal Symphalangism |
46 |
2049 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
46 |
2050 |
c
|
USH041 |
Usher Syndrome, Type if |
45 |
2051 |
c
|
MCR247 |
Microcephaly 1, Primary, Autosomal Recessive |
45 |
2052 |
|
CYS002 |
Cystic Lymphangioma |
45 |
2053 |
c
|
DMN021 |
Diamond-Blackfan Anemia 6 |
45 |
2054 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
45 |
2055 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
45 |
2056 |
c
|
DMN029 |
Diamond-Blackfan Anemia 11 |
45 |
2057 |
P
|
SPN016 |
Spondylocostal Dysostosis |
45 |
2058 |
P
|
HRN001 |
Horner's Syndrome |
44 |
2059 |
|
DYS018 |
Dysostosis |
44 |
2060 |
P
|
SYN060 |
Syndactyly, Type Iii |
44 |
2061 |
|
FNT005 |
Fontaine Progeroid Syndrome |
44 |
2062 |
|
MDD010 |
Middle Ear Disease |
44 |
2063 |
c
|
USH021 |
Usher Syndrome, Type Iid |
44 |
2064 |
|
DRM021 |
Dermatopathia Pigmentosa Reticularis |
44 |
2065 |
|
SPN030 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
44 |
2066 |
|
PLY062 |
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy |
44 |
2067 |
c
|
SPN297 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
44 |
2068 |
|
MCR099 |
Microlissencephaly |
44 |
2069 |
|
SPN251 |
Spondyloenchondrodysplasia with Immune Dysregulation |
44 |
2070 |
|
CHR667 |
Chromosome 3pter-P25 Deletion Syndrome |
44 |
2071 |
|
CHR594 |
Chromosome 3q29 Deletion Syndrome |
44 |
2072 |
P
|
PLM158 |
Palmoplantar Keratoderma and Congenital Alopecia 1 |
44 |
2073 |
P
|
ECT005 |
Ectropion |
44 |
2074 |
c
|
SYN061 |
Syndactyly, Type Iv |
44 |
2075 |
|
PLC003 |
Placental Site Trophoblastic Tumor |
44 |
2076 |
P
|
NNN037 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair |
44 |
2077 |
P
|
CMM008 |
Communicating Hydrocephalus |
43 |
2078 |
c
|
USH042 |
Usher Syndrome, Type Ig |
43 |
2079 |
c
|
ANM080 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
43 |
2080 |
c
|
ORF027 |
Orofacial Cleft 11 |
43 |
2081 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
43 |
2082 |
|
CLF028 |
Cleft Soft Palate |
43 |
2083 |
c
|
BRC052 |
Brachydactyly, Type B2 |
43 |
2084 |
|
EKN001 |
Eiken Syndrome |
43 |
2085 |
|
RBF003 |
Riboflavin Transporter Deficiency |
43 |
2086 |
c
|
MCR223 |
Microcephaly 10, Primary, Autosomal Recessive |
43 |
2087 |
|
HML058 |
Hemolytic Disease of Fetus and Newborn, Rh-Induced |
43 |
2088 |
c
|
USH044 |
Usher Syndrome, Type Iiib |
42 |
2089 |
|
TRS002 |
Tarsal-Carpal Coalition Syndrome |
42 |
2090 |
c
|
DMN006 |
Diamond-Blackfan Anemia 3 |
42 |
2091 |
c
|
MCR255 |
Microcephaly 9, Primary, Autosomal Recessive |
42 |
2092 |
c
|
CRN220 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
42 |
2093 |
P
|
ORF002 |
Orofacial Cleft |
42 |
2094 |
c
|
CHL116 |
Cholestasis, Intrahepatic, of Pregnancy, 1 |
42 |
2095 |
|
CHR502 |
Chromosome 17q12 Duplication Syndrome |
41 |
2096 |
c
|
MCR320 |
Microcephaly 17, Primary, Autosomal Recessive |
41 |
2097 |
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
41 |
2098 |
c
|
ANM048 |
Anemia, Congenital Dyserythropoietic, Type Iv |
41 |
2099 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
41 |
2100 |
c
|
MCR137 |
Microphthalmia, Isolated 2 |
41 |
2101 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
41 |
2102 |
c
|
MCR122 |
Microphthalmia, Isolated 5 |
41 |
2103 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
41 |
2104 |
c
|
CHL142 |
Cholestasis, Intrahepatic, of Pregnancy 3 |
41 |
2105 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
41 |
2106 |
c
|
CHR505 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
41 |
2107 |
|
KPR003 |
Keipert Syndrome |
41 |
2108 |
c
|
EPP012 |
Epiphyseal Dysplasia, Multiple, 2 |
41 |
2109 |
|
ACR122 |
Aica-Ribosuria Due to Atic Deficiency |
41 |
2110 |
c
|
OST137 |
Osteopetrosis, Autosomal Recessive 4 |
41 |
2111 |
P
|
CRN013 |
Craniodiaphyseal Dysplasia |
41 |
2112 |
c
|
ANM049 |
Anemia, Congenital Dyserythropoietic, Type Ib |
40 |
2113 |
|
DSR012 |
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency |
40 |
2114 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
40 |
2115 |
c
|
SPN081 |
Spondylocostal Dysostosis, Autosomal Recessive |
40 |
2116 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
40 |
2117 |
c
|
MCR236 |
Microcephaly 13, Primary, Autosomal Recessive |
40 |
2118 |
|
CHR704 |
Chromosome 16p11.2 Deletion Syndrome |
40 |
2119 |
P
|
CRB045 |
Cerebellar Hypoplasia |
40 |
2120 |
c
|
DMN017 |
Diamond-Blackfan Anemia 10 |
40 |
2121 |
P
|
PRM018 |
Primary Hypertrophic Osteoarthropathy |
40 |
2122 |
|
CHR396 |
Chromosome 2p16.1-P15 Deletion Syndrome |
40 |
2123 |
|
FML307 |
Familial Calcium Pyrophosphate Deposition |
40 |
2124 |
|
NNT004 |
Neonatal Respiratory Failure |
39 |
2125 |
c
|
PRM212 |
Primary Microcephaly |
39 |
2126 |
|
PRG080 |
Progressive Non-Infectious Anterior Vertebral Fusion |
39 |
2127 |
|
VRH001 |
Verheij Syndrome |
39 |
2128 |
|
PRT049 |
Partial Deletion of Y |
39 |
2129 |
|
RJS001 |
Ruijs-Aalfs Syndrome |
39 |
2130 |
|
AKL001 |
Au-Kline Syndrome |
39 |
2131 |
|
48X003 |
48,xxyy Syndrome |
39 |
2132 |
c
|
HTR021 |
Heterotaxy, Visceral, 5, Autosomal |
39 |
2133 |
|
PHC018 |
Phace Association |
39 |
2134 |
c
|
PLY149 |
Polydactyly, Preaxial Iv |
39 |
2135 |
|
EPD072 |
Epidermolysis Bullosa Dystrophica, Pretibial |
39 |
2136 |
c
|
46X002 |
46 Xx Gonadal Dysgenesis |
38 |
2137 |
c
|
TRC093 |
Trichorhinophalangeal Syndrome, Type Iii |
38 |
2138 |
c
|
MCR250 |
Microcephaly 6, Primary, Autosomal Recessive |
38 |
2139 |
P
|
OMD003 |
Omodysplasia |
38 |
2140 |
c
|
MCR238 |
Microcephaly 7, Primary, Autosomal Recessive |
38 |
2141 |
c
|
SCN005 |
Secondary Hypertrophic Osteoarthropathy |
38 |
2142 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
38 |
2143 |
|
ACH001 |
Acheiropody |
38 |
2144 |
|
ART030 |
Aortic Arch Interruption |
38 |
2145 |
|
PRP093 |
Pierpont Syndrome |
38 |
2146 |
|
CRD221 |
Cardiospondylocarpofacial Syndrome |
38 |
2147 |
P
|
ACR106 |
Acrocephalopolysyndactyly Type Iii |
38 |
2148 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
38 |
2149 |
c
|
DMN020 |
Diamond-Blackfan Anemia 8 |
38 |
2150 |
|
CTL005 |
Catel-Manzke Syndrome |
38 |
2151 |
c
|
DMN024 |
Diamond-Blackfan Anemia 7 |
38 |
2152 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
37 |
2153 |
c
|
SPN215 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
37 |
2154 |
|
PLT007 |
Palatopharyngeal Incompetence |
37 |
2155 |
|
EPD022 |
Epidermolysis Bullosa Pruriginosa |
37 |
2156 |
c
|
MCR211 |
Microphthalmia, Isolated 6 |
37 |
2157 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
37 |
2158 |
c
|
ZMM002 |
Zimmermann-Laband Syndrome 1 |
37 |
2159 |
c
|
EPP009 |
Epiphyseal Dysplasia, Multiple, 6 |
37 |
2160 |
c
|
SCK029 |
Seckel Syndrome 7 |
37 |
2161 |
P
|
PRR032 |
Pura-Related Neurodevelopmental Disorders |
37 |
2162 |
c
|
MCR314 |
Microcephaly 16, Primary, Autosomal Recessive |
37 |
2163 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
37 |
2164 |
c
|
MCR270 |
Microcephaly 14, Primary, Autosomal Recessive |
37 |
2165 |
|
SPT016 |
Septopreoptic Holoprosencephaly |
37 |
2166 |
c
|
FRN033 |
Frontonasal Dysplasia 2 |
37 |
2167 |
c
|
MCR322 |
Microcephaly 18, Primary, Autosomal Dominant |
37 |
2168 |
c
|
PRT059 |
Parietal Foramina 1 |
36 |
2169 |
|
DFN358 |
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia |
36 |
2170 |
c
|
EPD123 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
36 |
2171 |
|
BCH004 |
Bachmann-Bupp Syndrome |
36 |
2172 |
c
|
THN010 |
Thanatophoric Dysplasia, Type Ii |
36 |
2173 |
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
36 |
2174 |
|
ECT007 |
Ectodermal Dysplasia/skin Fragility Syndrome |
36 |
2175 |
|
MCR354 |
Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures |
36 |
2176 |
P
|
LSS030 |
Lissencephaly 7 with Cerebellar Hypoplasia |
36 |
2177 |
|
LNG040 |
Langer Mesomelic Dysplasia |
36 |
2178 |
|
PLM013 |
Pulmonary Immaturity |
36 |
2179 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
36 |
2180 |
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
36 |
2181 |
c
|
MCR109 |
Microphthalmia, Isolated 4 |
36 |
2182 |
|
INT585 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
35 |
2183 |
c
|
RTH007 |
Rothmund-Thomson Syndrome, Type 1 |
35 |
2184 |
|
CHN045 |
Chondrodysplasia with Joint Dislocations, Gpapp Type |
35 |
2185 |
|
OCL033 |
Oculocerebral Syndrome with Hypopigmentation |
35 |
2186 |
|
AMN014 |
Aminopterin Syndrome Sine Aminopterin |
35 |
2187 |
c
|
MCR246 |
Microcephaly 12, Primary, Autosomal Recessive |
35 |
2188 |
|
CHR381 |
Chromosome 17q23.1-Q23.2 Deletion Syndrome |
35 |
2189 |
|
48X002 |
48,xxxy Syndrome |
35 |
2190 |
|
HYP674 |
Hyperostosis Cranialis Interna |
35 |
2191 |
|
CHR076 |
Choriocarcinoma of the Testis |
35 |
2192 |
c
|
CRD164 |
Cardiofaciocutaneous Syndrome 3 |
35 |
2193 |
c
|
OST106 |
Osteopetrosis, Autosomal Recessive 8 |
34 |
2194 |
|
ODN025 |
Odontochondrodysplasia 1 |
34 |
2195 |
P
|
MTR080 |
Mitral Valve Prolapse 1 |
34 |
2196 |
c
|
NNN027 |
Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 |
34 |
2197 |
|
SLF015 |
Self-Improving Collodion Baby |
34 |
2198 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
34 |
2199 |
|
PST063 |
Postsynaptic Congenital Myasthenic Syndromes |
34 |
2200 |
|
CYS041 |
Cystic Angiomatosis of Bone, Diffuse |
34 |
2201 |
c
|
MCR356 |
Microcephaly 19, Primary, Autosomal Recessive |
34 |
2202 |
|
CHR226 |
Chromosome 1q41-Q42 Deletion Syndrome |
34 |
2203 |
c
|
CRP022 |
Carpenter Syndrome 2 |
34 |
2204 |
c
|
ISL165 |
Isolated Microphthalmia 3 |
34 |
2205 |
|
CHR524 |
Chromosome 16p13.3 Duplication Syndrome |
34 |
2206 |
c
|
USH031 |
Usher Syndrome, Type Ij |
34 |
2207 |
c
|
EPP015 |
Epiphyseal Dysplasia, Multiple, 3 |
33 |
2208 |
c
|
MCR249 |
Microcephaly 11, Primary, Autosomal Recessive |
33 |
2209 |
c
|
BNM015 |
Bone Mineral Density Quantitative Trait Locus 18 |
33 |
2210 |
c
|
CRD167 |
Cardiofaciocutaneous Syndrome 4 |
33 |
2211 |
c
|
DMN018 |
Diamond-Blackfan Anemia 5 |
33 |
2212 |
|
CBB005 |
Cobblestone Lissencephaly |
33 |
2213 |
c
|
VHW003 |
Vohwinkel Syndrome, Variant Form |
33 |
2214 |
|
ACR099 |
Acrofacial Dysostosis, Catania Type |
33 |
2215 |
P
|
CHR084 |
Chromosomal Disease |
33 |
2216 |
|
CHR582 |
Chromosome 3q29 Duplication Syndrome |
33 |
2217 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
33 |
2218 |
P
|
MCR364 |
Macrodactyly |
33 |
2219 |
c
|
RNG008 |
Ring Chromosome 13 |
33 |
2220 |
P
|
ZMM001 |
Zimmermann-Laband Syndrome |
33 |
2221 |
c
|
MCR254 |
Microcephaly 4, Primary, Autosomal Recessive |
33 |
2222 |
|
SKR001 |
Skraban-Deardorff Syndrome |
33 |
2223 |
c
|
CRD163 |
Cardiofaciocutaneous Syndrome 2 |
32 |
2224 |
|
XLN206 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
32 |
2225 |
|
ALC002 |
Alcohol-Related Neurodevelopmental Disorder |
32 |
2226 |
c
|
BNM018 |
Bone Mineral Density Quantitative Trait Locus 3 |
32 |
2227 |
|
SZR027 |
Seizures, Cortical Blindness, and Microcephaly Syndrome |
32 |
2228 |
c
|
PRT060 |
Parietal Foramina 2 |
32 |
2229 |
|
LMB014 |
Limb-Body Wall Complex |
32 |
2230 |
|
NNS061 |
Non-Syndromic Pontocerebellar Hypoplasia |
32 |
2231 |
P
|
BRW001 |
Brown-Vialetto-Van Laere Syndrome |
32 |
2232 |
P
|
NNT042 |
Neonatal Lupus Erythematosus |
32 |
2233 |
c
|
HTR010 |
Heterotaxy, Visceral, 4, Autosomal |
32 |
2234 |
c
|
DMN005 |
Diamond-Blackfan Anemia 2 |
32 |
2235 |
c
|
GLL040 |
Galloway-Mowat Syndrome 3 |
32 |
2236 |
c
|
DMN049 |
Diamond-Blackfan Anemia 20 |
32 |
2237 |
c
|
KRT078 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
32 |
2238 |
|
FMR018 |
Femoral-Facial Syndrome |
31 |
2239 |
P
|
BND014 |
Bone Development Disease |
31 |
2240 |
|
LYM122 |
Lymphangiectasia, Pulmonary, Congenital |
31 |
2241 |
|
ENC047 |
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum |
31 |
2242 |
|
MSC021 |
Mosaic Trisomy 9 |
31 |
2243 |
|
RCH002 |
Richards-Rundle Syndrome |
31 |
2244 |
c
|
ORF048 |
Orofacial Cleft 1 |
31 |
2245 |
|
CZC002 |
Czech Dysplasia |
31 |
2246 |
P
|
ANG013 |
Angioma Serpiginosum |
31 |
2247 |
|
ALG027 |
Al-Gazali-Bakalinova Syndrome |
31 |
2248 |
|
SHR124 |
Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures |
31 |
2249 |
|
CPL012 |
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/generalized Overgrowth |
31 |
2250 |
|
JBR032 |
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy |
30 |
2251 |
c
|
SYM022 |
Symphalangism, Proximal, 1a |
30 |
2252 |
c
|
ANN020 |
Anencephaly 1 |
30 |
2253 |
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
30 |
2254 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
30 |
2255 |
c
|
VCT004 |
Vacterl Association with Hydrocephalus |
30 |
2256 |
|
MYP163 |
Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay |
30 |
2257 |
|
THR101 |
Thrombocytopenia, Paris-Trousseau Type |
30 |
2258 |
|
BFD002 |
Bifid Nose with or Without Anorectal and Renal Anomalies |
30 |
2259 |
|
CRT069 |
Cortical Malformations, Occipital |
30 |
2260 |
c
|
ORF014 |
Orofacial Cleft 5 |
30 |
2261 |
|
DFN039 |
Deafness-Infertility Syndrome |
30 |
2262 |
c
|
BRN086 |
Branchiootorenal Syndrome 2 |
30 |
2263 |
|
INT428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
29 |
2264 |
c
|
HYP520 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
29 |
2265 |
c
|
SPN307 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
29 |
2266 |
|
STP011 |
Stapes Ankylosis with Broad Thumbs and Toes |
29 |
2267 |
|
FRN022 |
Frontofacionasal Dysplasia |
29 |
2268 |
c
|
ORF028 |
Orofacial Cleft 10 |
29 |
2269 |
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
29 |
2270 |
c
|
DMN022 |
Diamond-Blackfan Anemia 9 |
29 |
2271 |
|
CHR248 |
Chromosome 4p Duplication |
29 |
2272 |
|
YNH001 |
Yuan-Harel-Lupski Syndrome |
29 |
2273 |
|
SPN136 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
29 |
2274 |
|
ACR025 |
Acrocephalopolydactylous Dysplasia |
29 |
2275 |
|
XLN232 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
29 |
2276 |
c
|
RNG020 |
Ring Chromosome 4 |
28 |
2277 |
c
|
BFD005 |
Bifid Nose, Autosomal Recessive |
28 |
2278 |
|
FBL014 |
Fibular Hemimelia |
28 |
2279 |
P
|
ACR093 |
Acrofrontofacionasal Dysostosis |
28 |
2280 |
|
CHN019 |
Chand Syndrome |
28 |
2281 |
|
CHR399 |
Chromosome 4q21 Deletion Syndrome |
28 |
2282 |
P
|
VCT008 |
Vacterl with Hydrocephalus |
28 |
2283 |
|
IDP062 |
Idiopathic Syringomyelia |
28 |
2284 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
28 |
2285 |
|
CHR219 |
Chromosome 19q13.11 Deletion Syndrome |
28 |
2286 |
|
FTL029 |
Fetal Thalidomide Syndrome |
28 |
2287 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
2288 |
c
|
USH045 |
Usher Syndrome, Type Iv |
28 |
2289 |
|
MCR326 |
Microcephaly-Micromelia Syndrome |
28 |
2290 |
|
LBN004 |
Liebenberg Syndrome |
28 |
2291 |
c
|
DMN019 |
Diamond-Blackfan Anemia 4 |
28 |
2292 |
|
OPH015 |
Ophn1 Syndrome |
28 |
2293 |
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
28 |
2294 |
c
|
BLT007 |
Bilateral Frontal Polymicrogyria |
28 |
2295 |
c
|
NNT025 |
Neonatal Systemic Lupus Erythematosus |
28 |
2296 |
|
ICH062 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
28 |
2297 |
|
FTL073 |
Fetal Anticonvulsant Syndrome |
27 |
2298 |
c
|
HTR009 |
Heterotaxy, Visceral, 2, Autosomal |
27 |
2299 |
|
OCC011 |
Occipital Encephalocele |
27 |
2300 |
P
|
VNM004 |
Van Maldergem Syndrome |
27 |
2301 |
|
LPB001 |
Lipoblastoma |
27 |
2302 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
27 |
2303 |
|
CHR366 |
Chromosome 5p13 Duplication Syndrome |
27 |
2304 |
|
WSM003 |
Weismann-Netter Syndrome |
27 |
2305 |
|
RDL022 |
Radial Hemimelia |
27 |
2306 |
|
APR009 |
Aprosencephaly Syndrome |
27 |
2307 |
|
CRN200 |
Craniosynostosis and Dental Anomalies |
27 |
2308 |
|
KPS005 |
Kaposiform Lymphangiomatosis |
27 |
2309 |
|
FMR017 |
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly |
27 |
2310 |
|
CHR393 |
Chromosome 19p13.13 Deletion Syndrome |
27 |
2311 |
|
CHR252 |
Chromosome 5p Duplication |
26 |
2312 |
|
VGN031 |
Vaginal Atresia |
26 |
2313 |
c
|
RNG013 |
Ring Chromosome 18 |
26 |
2314 |
c
|
HTR020 |
Heterotaxy, Visceral, 8, Autosomal |
26 |
2315 |
c
|
MCR219 |
Microphthalmia, Isolated 8 |
26 |
2316 |
|
MTP033 |
Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria |
26 |
2317 |
|
HYD054 |
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation |
26 |
2318 |
|
ACR107 |
Acrofacial Dysostosis, Palagonia Type |
26 |
2319 |
c
|
GLL042 |
Galloway-Mowat Syndrome 5 |
26 |
2320 |
c
|
HTR023 |
Heterotaxy, Visceral, 6, Autosomal |
26 |
2321 |
|
MCR123 |
Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy |
26 |
2322 |
c
|
SLV020 |
Silver-Russell Syndrome Due to a Point Mutation |
26 |
2323 |
P
|
ZYG003 |
Zygodactyly 1 |
26 |
2324 |
|
PGD001 |
Pagod Syndrome |
26 |
2325 |
c
|
SYN088 |
Synpolydactyly 2 |
26 |
2326 |
|
NNS134 |
Non-Syndromic Bicoronal Craniosynostosis |
26 |
2327 |
c
|
MTR077 |
Mitral Valve Prolapse 2 |
26 |
2328 |
|
CMD005 |
Cimdag Syndrome |
26 |
2329 |
c
|
CHD006 |
Chd2-Related Neurodevelopmental Disorders |
26 |
2330 |
|
CRN268 |
Craniostenosis, Sagittal, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis |
26 |
2331 |
c
|
EPD124 |
Epidermolysis Bullosa, Junctional 5a, Intermediate |
26 |
2332 |
c
|
MCR382 |
Microcephaly 26, Primary, Autosomal Dominant |
25 |
2333 |
c
|
HTR018 |
Heterotaxy, Visceral, 7, Autosomal |
25 |
2334 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
2335 |
|
DFF022 |
Diffuse Neonatal Hemangiomatosis |
25 |
2336 |
|
MNT256 |
Mental Retardation, Buenos Aires Type |
25 |
2337 |
|
FCL046 |
Focal Facial Dermal Dysplasia 4 |
25 |
2338 |
c
|
HYP759 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
25 |
2339 |
c
|
ORF046 |
Orofaciodigital Syndrome Xvi |
25 |
2340 |
c
|
FRN037 |
Frontal Encephalocele |
25 |
2341 |
c
|
ORF025 |
Orofacial Cleft 6 |
25 |
2342 |
c
|
GLL045 |
Galloway-Mowat Syndrome 6 |
25 |
2343 |
c
|
ORF023 |
Orofacial Cleft 4 |
25 |
2344 |
c
|
GLL046 |
Galloway-Mowat Syndrome 7 |
25 |
2345 |
|
DFF027 |
Diffuse Lymphatic Malformation |
25 |
2346 |
|
RNL039 |
Renal Dysplasia-Limb Defects Syndrome |
25 |
2347 |
P
|
BLT016 |
Bilateral Polymicrogyria |
25 |
2348 |
|
AXL004 |
Axial Mesodermal Dysplasia Spectrum |
25 |
2349 |
c
|
BNM016 |
Bone Mineral Density Quantitative Trait Locus 1 |
25 |
2350 |
c
|
SYM019 |
Symphalangism, Proximal, 1b |
25 |
2351 |
|
ATR053 |
Atresia of Urethra |
25 |
2352 |
|
PRB002 |
Proboscis Lateralis |
25 |
2353 |
|
UNL005 |
Unilateral Polymicrogyria |
25 |
2354 |
c
|
CNG455 |
Congenital Aortopulmonary Window |
25 |
2355 |
|
BRN129 |
Branchial Cleft Anomalies |
25 |
2356 |
c
|
ORF051 |
Orofaciodigital Syndrome Xvii |
25 |
2357 |
c
|
DMN045 |
Diamond-Blackfan Anemia-Like |
25 |
2358 |
|
CHR416 |
Chromosome 17q Deletion |
25 |
2359 |
c
|
GLL041 |
Galloway-Mowat Syndrome 4 |
25 |
2360 |
|
LRY028 |
Laryngocele |
25 |
2361 |
|
NNG001 |
Non-Gestational Choriocarcinoma |
25 |
2362 |
|
INV022 |
Inverted Duplicated Chromosome 15 Syndrome |
25 |
2363 |
c
|
MCR360 |
Microcephaly 20, Primary, Autosomal Recessive |
25 |
2364 |
|
ART037 |
Arthrogryposis and Ectodermal Dysplasia |
24 |
2365 |
c
|
LYS031 |
Loeys-Dietz Syndrome 6 |
24 |
2366 |
|
IST007 |
Isotretinoin Embryopathy-Like Syndrome |
24 |
2367 |
c
|
ORF047 |
Orofacial Cleft 15 |
24 |
2368 |
c
|
CCH010 |
Coach Syndrome 2 |
24 |
2369 |
P
|
VTM003 |
Vitamin Metabolic Disorder |
24 |
2370 |
|
OST117 |
Osteomesopyknosis |
24 |
2371 |
|
TTR019 |
Tetrasomy 5p |
24 |
2372 |
|
HYP638 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
24 |
2373 |
c
|
ORF045 |
Orofaciodigital Syndrome Xv |
24 |
2374 |
|
ATX037 |
Ataxia-Deafness-Retardation Syndrome |
24 |
2375 |
c
|
DMN028 |
Diamond-Blackfan Anemia 12 |
24 |
2376 |
|
ANG066 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
24 |
2377 |
c
|
MCR243 |
Microcephaly 8, Primary, Autosomal Recessive |
24 |
2378 |
|
SPL057 |
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects |
24 |
2379 |
|
CHR703 |
Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb |
24 |
2380 |
c
|
SPN417 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
23 |
2381 |
c
|
MYR005 |
Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1 |
23 |
2382 |
|
ANL024 |
Anal Atresia, Hypospadias, and Penoscrotal Inversion |
23 |
2383 |
|
LWR016 |
Lowry-Maclean Syndrome |
23 |
2384 |
c
|
GLL053 |
Galloway-Mowat Syndrome 10 |
23 |
2385 |
|
CLV012 |
Clavicle, Pseudarthrosis of, Congenital |
23 |
2386 |
c
|
BNM030 |
Bone Mineral Density Quantitative Trait Locus 16 |
23 |
2387 |
c
|
46X011 |
46, Xy Disorders of Sexual Development |
23 |
2388 |
c
|
MCR361 |
Microcephaly 21, Primary, Autosomal Recessive |
23 |
2389 |
c
|
EPP026 |
Epiphyseal Dysplasia, Multiple, 7 |
23 |
2390 |
c
|
ORF016 |
Orofacial Cleft 8 |
23 |
2391 |
c
|
CRB209 |
Cerebellar Malformation |
23 |
2392 |
c
|
ZMM003 |
Zimmermann-Laband Syndrome 2 |
23 |
2393 |
|
CRS011 |
Criss-Cross Heart |
23 |
2394 |
P
|
ISL020 |
Isolated Microphthalmia |
23 |
2395 |
c
|
CCH011 |
Coach Syndrome 3 |
23 |
2396 |
|
PLV015 |
Pelvis-Shoulder Dysplasia |
23 |
2397 |
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
23 |
2398 |
|
PLY135 |
Polydactyly, Postaxial, with Progressive Myopia |
23 |
2399 |
|
ACR019 |
Acropectoral Syndrome |
23 |
2400 |
c
|
GLL047 |
Galloway-Mowat Syndrome 8 |
23 |
2401 |
|
BRC020 |
Brachydactylous Dwarfism Mseleni Type |
23 |
2402 |
|
NNG002 |
Non-Gestational Ovarian Choriocarcinoma |
23 |
2403 |
c
|
DMN030 |
Diamond-Blackfan Anemia 13 |
23 |
2404 |
c
|
EPD125 |
Epidermolysis Bullosa, Junctional 6, with Pyloric Atresia |
23 |
2405 |
c
|
MRT011 |
Martsolf Syndrome 2 |
22 |
2406 |
c
|
OST171 |
Osteopetrosis, Autosomal Dominant 3 |
22 |
2407 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
22 |
2408 |
c
|
RNG021 |
Ring Chromosome 5 |
22 |
2409 |
P
|
ART034 |
Aortopulmonary Window |
22 |
2410 |
c
|
HRN024 |
Horner Syndrome, Congenital |
22 |
2411 |
c
|
ACQ004 |
Acquired Hemangioma |
22 |
2412 |
|
FBR087 |
Fibromatosis, Gingival, with Distinctive Facies |
22 |
2413 |
|
SCH025 |
Schisis Association |
22 |
2414 |
|
CYN002 |
Cyanosis, Transient Neonatal |
22 |
2415 |
c
|
HTR029 |
Heterotaxy, Visceral, 12, Autosomal |
22 |
2416 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
22 |
2417 |
|
INT231 |
Intellectual Disability - Athetosis - Microphthalmia |
22 |
2418 |
|
NTH002 |
Nathalie Syndrome |
22 |
2419 |
|
CRT060 |
Cor Triatriatum Sinister |
22 |
2420 |
|
VNT039 |
Ventriculomegaly and Arthrogryposis |
22 |
2421 |
P
|
CNG326 |
Congenital Primary Megaureter |
22 |
2422 |
c
|
PTN013 |
Patent Ductus Arteriosus 2 |
22 |
2423 |
|
XLN085 |
X-Linked Complicated Spastic Paraplegia Type 1 |
22 |
2424 |
c
|
EPD122 |
Epidermolysis Bullosa, Junctional 3b, Severe |
22 |
2425 |
c
|
MCR383 |
Microcephaly 27, Primary, Autosomal Dominant |
22 |
2426 |
c
|
RNG012 |
Ring Chromosome 17 |
22 |
2427 |
|
CNG260 |
Congenital Enterovirus Infection |
22 |
2428 |
c
|
PLY137 |
Polydactyly, Preaxial Iii |
22 |
2429 |
|
UNC015 |
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly |
22 |
2430 |
c
|
MCR362 |
Microcephaly 22, Primary, Autosomal Recessive |
22 |
2431 |
|
ABN012 |
Abnormal Origin of Right or Left Pulmonary Artery from the Aorta |
22 |
2432 |
|
CRN076 |
Crane-Heise Syndrome |
22 |
2433 |
|
FBR101 |
Fibrous Dysplasia / Mccune-Albright Syndrome |
22 |
2434 |
c
|
ZMM004 |
Zimmermann-Laband Syndrome 3 |
22 |
2435 |
|
CRT061 |
Cor Triatriatum Dexter |
21 |
2436 |
c
|
ANG059 |
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 |
21 |
2437 |
|
ATK002 |
Atkin-Flaitz Syndrome |
21 |
2438 |
|
THM006 |
Thumb Deformity, Alopecia, Pigmentation Anomaly |
21 |
2439 |
|
CHR584 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb |
21 |
2440 |
|
MSM019 |
Mesomelic Dysplasia, Savarirayan Type |
21 |
2441 |
c
|
MTR083 |
Mitral Valve Prolapse 3 |
21 |
2442 |
|
FTL018 |
Fetal Indomethacin Syndrome |
21 |
2443 |
|
TBT001 |
Tabatznik Syndrome |
21 |
2444 |
|
PLM116 |
Pulmonary Artery Hypoplasia |
21 |
2445 |
|
ACH039 |
Achalasia-Microcephaly Syndrome |
21 |
2446 |
c
|
USH030 |
Usher Syndrome, Type Ik |
21 |
2447 |
c
|
JVN025 |
Juvenile Primary Osteoporosis |
21 |
2448 |
|
CNG519 |
Congenital Gerbode Defect |
21 |
2449 |
|
PHK008 |
Phakomatosis Cesioflammea |
21 |
2450 |
c
|
EPD120 |
Epidermolysis Bullosa, Junctional 2b, Severe |
21 |
2451 |
|
MTC181 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
21 |
2452 |
|
ULN024 |
Ulnar/fibular Ray Defect and Brachydactyly |
21 |
2453 |
|
CRB163 |
Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome |
21 |
2454 |
|
FCC003 |
Faciocardiomelic Dysplasia, Lethal |
21 |
2455 |
c
|
ORF039 |
Orofaciodigital Syndrome Vii |
21 |
2456 |
|
SYN106 |
Syndromic Craniosynostosis |
21 |
2457 |
c
|
MCR372 |
Microcephaly 25, Primary, Autosomal Recessive |
21 |
2458 |
|
TRP024 |
Triphalangeal Thumbs with Brachyectrodactyly |
21 |
2459 |
|
PRN057 |
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations |
20 |
2460 |
c
|
DMN040 |
Diamond-Blackfan Anemia 16 |
20 |
2461 |
|
7P2001 |
7p22.1 Microduplication Syndrome |
20 |
2462 |
|
PLY050 |
Polymicrogyria with Optic Nerve Hypoplasia |
20 |
2463 |
c
|
ACR103 |
Acrofrontofacionasal Dysostosis 1 |
20 |
2464 |
c
|
LTN015 |
Late-Onset Junctional Epidermolysis Bullosa |
20 |
2465 |
c
|
GLL052 |
Galloway-Mowat Syndrome 9 |
20 |
2466 |
|
PCH004 |
Pachygyria, Frontotemporal |
20 |
2467 |
|
MCR304 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs |
20 |
2468 |
|
PLD002 |
Pilodental Dysplasia with Refractive Errors |
20 |
2469 |
c
|
ACR108 |
Acrocephalopolysyndactyly Type Iv |
20 |
2470 |
c
|
ORF049 |
Orofacial Cleft 3 |
20 |
2471 |
|
CHN067 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
20 |
2472 |
c
|
ORF050 |
Orofacial Cleft 2 |
20 |
2473 |
|
PHV001 |
Phaver Syndrome |
20 |
2474 |
|
MYC060 |
Mycophenolate Mofetil Embryopathy |
20 |
2475 |
|
HMR016 |
Humeroradioulnar Synostosis |
20 |
2476 |
c
|
MCR363 |
Microcephaly 23, Primary, Autosomal Recessive |
20 |
2477 |
c
|
EPD121 |
Epidermolysis Bullosa, Junctional 3a, Intermediate |
20 |
2478 |
c
|
HYD070 |
Hydrocephalus, Congenital Communicating, 1 |
20 |
2479 |
|
OMP008 |
Omphalocele-Cleft Palate Syndrome, Lethal |
20 |
2480 |
c
|
DMN039 |
Diamond-Blackfan Anemia 17 |
20 |
2481 |
|
THR109 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
20 |
2482 |
|
UNL014 |
Unilateral Multicystic Dysplastic Kidney |
20 |
2483 |
|
21Q001 |
21q22.11q22.12 Microdeletion Syndrome |
20 |
2484 |
|
SCL051 |
Scalp Defects and Postaxial Polydactyly |
20 |
2485 |
|
MCR311 |
Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome |
20 |
2486 |
c
|
CMP088 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
20 |
2487 |
c
|
ANN021 |
Anencephaly 2 |
20 |
2488 |
c
|
DMN047 |
Diamond-Blackfan Anemia 18 |
20 |
2489 |
|
MCR305 |
Microcephaly with Cervical Spine Fusion Anomalies |
19 |
2490 |
|
CLF042 |
Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease |
19 |
2491 |
c
|
RNG014 |
Ring Chromosome 19 |
19 |
2492 |
c
|
EPD119 |
Epidermolysis Bullosa, Junctional 2a, Intermediate |
19 |
2493 |
|
CRV063 |
Cervical Spina Bifida Aperta |
19 |
2494 |
|
PHK006 |
Phakomatosis Pigmentokeratotica |
19 |
2495 |
c
|
MCR368 |
Microcephaly 24, Primary, Autosomal Recessive |
19 |
2496 |
|
APH014 |
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv |
19 |
2497 |
|
ISL154 |
Isolated Exencephaly |
19 |
2498 |
c
|
TRC104 |
Trichorhinophalangeal Syndrome Type 1 and 3 |
19 |
2499 |
|
QDR002 |
Quadricuspid Aortic Valve |
19 |
2500 |
c
|
MLG144 |
Malignant Hemangioma |
19 |
2501 |
|
19P003 |
19p13.3 Microduplication Syndrome |
19 |
2502 |
c
|
MCR391 |
Microcephaly 29, Primary, Autosomal Recessive |
19 |
2503 |
|
MCR303 |
Macrosomia with Microphthalmia, Lethal |
19 |
2504 |
|
NRN022 |
Neurenteric Cyst |
19 |
2505 |
|
CTS042 |
Cutis Laxa, Neonatal, with Marfanoid Phenotype |
19 |
2506 |
c
|
MCR108 |
Microphthalmia, Isolated 7 |
19 |
2507 |
c
|
USH043 |
Usher Syndrome, Type Ih |
19 |
2508 |
|
APH015 |
Aphalangy with Hemivertebrae |
19 |
2509 |
|
CXR001 |
Coxoauricular Syndrome |
19 |
2510 |
|
DFN312 |
Deafness, Congenital, with Vitiligo and Achalasia |
19 |
2511 |
|
CNG609 |
Congenital Left Ventricular Aneurysm |
19 |
2512 |
c
|
DMN050 |
Diamond-Blackfan Anemia 21 |
19 |
2513 |
|
DFN311 |
Deafness-Craniofacial Syndrome |
18 |
2514 |
|
SPL056 |
Split-Foot Deformity with Mandibulofacial Dysostosis |
18 |
2515 |
c
|
DMN048 |
Diamond-Blackfan Anemia 19 |
18 |
2516 |
|
THR033 |
Thoracomelic Dysplasia |
18 |
2517 |
|
LMB057 |
Lumbosacral Spina Bifida Aperta |
18 |
2518 |
c
|
46X060 |
46,xx Disorder of Sex Development |
18 |
2519 |
c
|
CNG578 |
Congenital Hemangioma |
18 |
2520 |
|
SHR023 |
Short Stature Syndrome, Brussels Type |
18 |
2521 |
|
ISL155 |
Isolated Anencephaly |
18 |
2522 |
P
|
BMN001 |
Biemond Syndrome |
18 |
2523 |
|
SYM011 |
Symphalangism with Multiple Anomalies of Hands and Feet |
18 |
2524 |
c
|
HYD067 |
Hydatidiform Mole, Recurrent, 3 |
18 |
2525 |
|
CRN192 |
Craniorhiny |
18 |
2526 |
c
|
MLT031 |
Multiple Epiphyseal Dysplasia, Recessive |
18 |
2527 |
|
TRG007 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet |
18 |
2528 |
c
|
TTL009 |
Total Spina Bifida Aperta |
18 |
2529 |
|
THY105 |
Thyrocerebroretinal Syndrome |
18 |
2530 |
c
|
USH046 |
Usher Syndrome, Type 1m |
18 |
2531 |
|
CRL002 |
Curly Hair-Acral Keratoderma-Caries Syndrome |
18 |
2532 |
c
|
INT498 |
Intellectual Developmental Disorder, X-Linked, Syndromic 9 |
18 |
2533 |
c
|
MCR386 |
Microcephaly 28, Primary, Autosomal Recessive |
18 |
2534 |
|
DYS049 |
Dysplastic Cortical Hyperostosis |
18 |
2535 |
|
VTR017 |
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency |
18 |
2536 |
|
UMB001 |
Umbilical Cord Ulceration and Intestinal Atresia |
18 |
2537 |
|
FML254 |
Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion |
18 |
2538 |
|
CRV061 |
Cervicothoracic Spina Bifida Cystica |
18 |
2539 |
|
THR084 |
Thoracolumbosacral Spina Bifida Cystica |
18 |
2540 |
|
THR085 |
Thoracolumbosacral Spina Bifida Aperta |
18 |
2541 |
|
TTR010 |
Tetramelic Monodactyly |
18 |
2542 |
|
HML049 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities |
18 |
2543 |
|
PHC009 |
Phocomelia Ectrodactyly Deafness Sinus Arrhythmia |
18 |
2544 |
c
|
HYD068 |
Hydatidiform Mole, Recurrent, 4 |
18 |
2545 |
|
ECT087 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
18 |
2546 |
|
MLT144 |
Multiple Epiphyseal Dysplasia with Robin Phenotype |
18 |
2547 |
|
3P2001 |
3p25.3 Microdeletion Syndrome |
18 |
2548 |
|
INF155 |
Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
17 |
2549 |
|
MCR042 |
Microbrachycephaly Ptosis Cleft Lip |
17 |
2550 |
|
ACT206 |
Acitretin/etretinate Embryopathy |
17 |
2551 |
|
ATR084 |
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects |
17 |
2552 |
|
ESS005 |
Essential Iris Atrophy |
17 |
2553 |
|
CMP077 |
Composite Hemangioendothelioma |
17 |
2554 |
|
ISL133 |
Isolated Epispadias |
17 |
2555 |
|
CNG330 |
Congenital Megacalycosis |
17 |
2556 |
|
RTF001 |
Retiform Hemangioendothelioma |
17 |
2557 |
c
|
SYN040 |
Synpolydactyly 3 |
17 |
2558 |
c
|
ORF031 |
Orofacial Cleft 14 |
17 |
2559 |
|
PLM045 |
Palmer Pagon Syndrome |
17 |
2560 |
c
|
SX2003 |
Six2-Related Frontonasal Dysplasia |
17 |
2561 |
P
|
CNG600 |
Congenital Arteriovenous Fistula |
17 |
2562 |
|
ART091 |
Aorto-Ventricular Tunnel |
17 |
2563 |
c
|
CNG621 |
Congenital Myasthenic Syndrome 7 |
17 |
2564 |
|
NPH082 |
Nephrosis with Deafness and Urinary Tract and Digital Malformations |
17 |
2565 |
|
HYD055 |
Hydroxylysinuria |
17 |
2566 |
|
RDL029 |
Radial Ray Hypoplasia with Choanal Atresia |
17 |
2567 |
c
|
BNM031 |
Bone Mineral Density Quantitative Trait Locus 17 |
17 |
2568 |
c
|
ANM081 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
17 |
2569 |
|
CRY037 |
Cryptophthalmia |
17 |
2570 |
|
DST082 |
Distal Trisomy 10q |
17 |
2571 |
|
MRF015 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
17 |
2572 |
|
AZY001 |
Azygos Continuation of the Inferior Vena Cava |
17 |
2573 |
|
MRF018 |
Marfanoid Habitus with Microcephaly and Glomerulonephritis |
17 |
2574 |
|
WHT022 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrom |
17 |
2575 |
c
|
CNT108 |
Central Polydactyly |
17 |
2576 |
|
VNB001 |
Van Benthem-Driessen-Hanveld Syndrome |
17 |
2577 |
|
ODN008 |
Odontomicronychial Dysplasia |
17 |
2578 |
|
CRN258 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
17 |
2579 |
|
FRS011 |
First Branchial Cleft Anomaly |
17 |
2580 |
|
LNG102 |
Long-Thumb Brachydactyly Syndrome |
17 |
2581 |
|
SPN351 |
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition |
16 |
2582 |
|
PLY086 |
Polyrrhinia |
16 |
2583 |
c
|
GRN052 |
Grin2b-Related Neurodevelopmental Disorder |
16 |
2584 |
|
HLL014 |
Hallux Varus and Preaxial Polysyndactyly |
16 |
2585 |
|
ANR045 |
Aneurysm of Interventricular Septum |
16 |
2586 |
|
IMM129 |
Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis |
16 |
2587 |
c
|
ANG028 |
Angioma Serpiginosum, Autosomal Dominant |
16 |
2588 |
|
CRN101 |
Craniosynostosis Philadelphia Type |
16 |
2589 |
|
ECT016 |
Ectodermal Dysplasia Blindness |
16 |
2590 |
|
ADR047 |
Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone |
16 |
2591 |
c
|
JVN036 |
Juvenile Sialidosis Type 2 |
16 |
2592 |
|
ALG003 |
Al Gazali Aziz Salem Syndrome |
16 |
2593 |
|
FXG002 |
Foxg1 Syndrome Due to 14q12 Microdeletion |
16 |
2594 |
c
|
PRT113 |
Parietal Foramina 3 |
16 |
2595 |
c
|
PPP004 |
Ppp2r1a-Related Neurodevelopmental Disorder |
16 |
2596 |
|
THR030 |
Thoraco Abdominal Enteric Duplication |
16 |
2597 |
|
SPN346 |
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability |
16 |
2598 |
|
ERL040 |
Early-Onset Sutural Cataract |
16 |
2599 |
|
DND020 |
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy |
16 |
2600 |
|
HLL006 |
Halal Setton Wang Syndrome |
16 |
2601 |
|
16P011 |
16p12.1p12.3 Triplication Syndrome |
15 |
2602 |
|
BNK001 |
Banki Syndrome |
15 |
2603 |
|
CMP079 |
Complete Septate Uterus |
15 |
2604 |
|
APL011 |
Aplasia Cutis Myopia |
15 |
2605 |
|
DFN300 |
Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome |
15 |
2606 |
|
SLV016 |
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication |
15 |
2607 |
|
CLF033 |
Cleft Mitral Valve |
15 |
2608 |
|
TTH023 |
Teeth, Noneruption of, with Maxillary Hypoplasia and Genu Valgum |
15 |
2609 |
c
|
RRD018 |
Rare Disease with Pierre Robin Syndrome |
15 |
2610 |
c
|
ORF029 |
Orofacial Cleft 13 |
15 |
2611 |
|
ANM076 |
Anomalous Aortic Origin of the Right Coronary Artery |
15 |
2612 |
|
BTT012 |
Battaglia-Neri Syndrome |
15 |
2613 |
|
IDP017 |
Idiopathic Dilatation of the Pulmonary Artery |
15 |
2614 |
|
PHL009 |
Phalangeal Microgeodic Syndrome |
15 |
2615 |
|
ACR027 |
Acrodysplasia Scoliosis |
15 |
2616 |
|
LRY030 |
Larynx Atresia |
15 |
2617 |
c
|
ANG058 |
Angelman Syndrome Due to a Point Mutation |
15 |
2618 |
|
EXS015 |
Exostoses with Anetodermia and Brachydactyly, Type E |
15 |
2619 |
|
NGH023 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
15 |
2620 |
c
|
SCN087 |
Scn3a-Related Neurodevelopmental Disorder |
15 |
2621 |
|
CRN307 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
14 |
2622 |
|
THM018 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
14 |
2623 |
|
ACC011 |
Accessory Mitral Valve Tissue |
14 |
2624 |
|
11P002 |
11p15.4 Microduplication Syndrome |
14 |
2625 |
|
HYP660 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
14 |
2626 |
|
CMP022 |
Camptodactyly Taurinuria |
14 |
2627 |
|
BRC089 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
14 |
2628 |
|
CMP098 |
Complex Vascular Malformation with Associated Anomalies |
14 |
2629 |
|
CRN271 |
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism |
14 |
2630 |
|
SCL050 |
Scoliosis, Arachnodactyly, and Blindness |
14 |
2631 |
|
PCH017 |
Pachygyria-Intellectual Disability-Epilepsy Syndrome |
14 |
2632 |
c
|
ATS448 |
Autosomal Recessive Brachyolmia |
14 |
2633 |
c
|
GLL043 |
Galloway-Mowat Syndrome 2 |
14 |
2634 |
|
ETH013 |
Euthyroid Graves Orbitopathy |
14 |
2635 |
|
KLM001 |
Klumpke Paralysis |
14 |
2636 |
c
|
CLC009 |
Clcn7-Related Osteopetrosis |
14 |
2637 |
|
HYP482 |
Hyperinsulinism Due to Ucp2 Deficiency |
14 |
2638 |
|
NND004 |
Non-Distal Monosomy 10q |
14 |
2639 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
14 |
2640 |
|
ANM075 |
Anomalous Aortic Origin of Coronary Artery |
14 |
2641 |
|
CDL001 |
Caudal Appendage Deafness |
14 |
2642 |
|
ANM077 |
Anomalous Aortic Origin of the Left Coronary Artery |
14 |
2643 |
|
MCR285 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
14 |
2644 |
c
|
ORF020 |
Orofacial Cleft 12 |
14 |
2645 |
c
|
HTR012 |
Heterotaxy, Visceral, 3, Autosomal |
14 |
2646 |
|
SPN464 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
13 |
2647 |
c
|
RRC022 |
Rare Chromosomal Anomaly |
13 |
2648 |
c
|
ORF054 |
Orofaciodigital Syndrome Xix |
13 |
2649 |
|
MCR367 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
13 |
2650 |
|
EPP018 |
Epiphyseal Dysplasia, Multiple, with Miniepiphyses |
13 |
2651 |
c
|
PLM183 |
Pulmonary Hypoplasia, Familial Primary |
13 |
2652 |
c
|
MCR185 |
Macrodactyly of Toes |
13 |
2653 |
|
MSC090 |
Mosaic Trisomy 3 |
13 |
2654 |
|
OST114 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
13 |
2655 |
c
|
ORF024 |
Orofacial Cleft 9 |
13 |
2656 |
|
DNN007 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
13 |
2657 |
c
|
SYN050 |
Syndactyly Type 6 |
13 |
2658 |
|
TRC057 |
Trichoodontoonychial Dysplasia |
13 |
2659 |
|
ISL111 |
Isolated Arrhinia |
13 |
2660 |
|
XLN145 |
X-Linked Intellectual Disability, Pai Type |
13 |
2661 |
|
PRT087 |
Parietal Encephalocele |
13 |
2662 |
|
ART097 |
Aorto-Left Ventricular Tunnel |
13 |
2663 |
|
APD003 |
Apodia |
13 |
2664 |
c
|
CNG253 |
Congenital Communicating Hydrocephalus |
12 |
2665 |
|
MGC005 |
Megacystis-Megaureter Syndrome |
12 |
2666 |
|
MCR357 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
12 |
2667 |
|
HLP030 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
12 |
2668 |
|
CRP029 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
12 |
2669 |
|
MLH001 |
Melhem Fahl Syndrome |
12 |
2670 |
|
LWR014 |
Lower Limb Hypertrophy |
12 |
2671 |
|
XLN156 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
12 |
2672 |
c
|
DSR027 |
Disorders of Vitamin D Metabolism |
12 |
2673 |
|
INT227 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
12 |
2674 |
c
|
HML041 |
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction |
12 |
2675 |
|
THN011 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
12 |
2676 |
|
PRT111 |
Partial Septate Uterus |
12 |
2677 |
c
|
RRH032 |
Rare Hemolytic Anemia |
12 |
2678 |
P
|
ISL045 |
Isolated Focal Cortical Dysplasia Type I |
12 |
2679 |
c
|
BNM021 |
Bone Mineral Density Quantitative Trait Locus 7 |
12 |
2680 |
|
ISL056 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
11 |
2681 |
c
|
ZYG007 |
Zygodactyly Type 3 |
11 |
2682 |
|
PTS015 |
Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome |
11 |
2683 |
|
SVR086 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
11 |
2684 |
|
MSC130 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
11 |
2685 |
c
|
BRN138 |
Branchiootorenal Spectrum Disorder |
11 |
2686 |
|
CNG535 |
Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome |
11 |
2687 |
c
|
CNG405 |
Congenital Pulmonary Airway Malformation Type 4 |
11 |
2688 |
c
|
GNB002 |
Gnb5-Related Neurodevelopmental Disorder |
11 |
2689 |
c
|
MLT142 |
Multiple Epiphyseal Dysplasia, Autosomal Dominant |
11 |
2690 |
|
CNG278 |
Congenital Pseudoarthrosis of the Radius |
11 |
2691 |
|
FML329 |
Familial Caudal Dysgenesis |
11 |
2692 |
|
HYP489 |
Hypotrichosis-Deafness Syndrome |
11 |
2693 |
P
|
BFD004 |
Bifid Nose, Autosomal Dominant |
11 |
2694 |
|
SBC038 |
Sub-Cortical Nodular Heterotopia |
11 |
2695 |
c
|
HNR003 |
Hnrnpu-Related Neurodevelopmental Disorder |
11 |
2696 |
|
HMR042 |
Humero-Ulnar Synostosis |
11 |
2697 |
|
LCL024 |
Localized Dystrophic Epidermolysis Bullosa, Nails Only |
11 |
2698 |
|
HYP852 |
Hypocalcemic Rickets |
11 |
2699 |
|
DGS007 |
Digestive Duplication |
11 |
2700 |
c
|
ISL040 |
Isolated Focal Cortical Dysplasia Type Ia |
10 |
2701 |
|
CNG283 |
Congenital Pseudoarthrosis of the Femur |
10 |
2702 |
c
|
ZYG005 |
Zygodactyly Type 4 |
10 |
2703 |
c
|
GRN056 |
Grin1-Related Neurodevelopmental Disorder |
10 |
2704 |
|
TBF001 |
Tibio-Fibular Synostosis |
10 |
2705 |
|
XLN147 |
X-Linked Intellectual Disability, Stoll Type |
10 |
2706 |
c
|
HNR004 |
Hnrnph2-Related Neurodevelopmental Disorder |
10 |
2707 |
c
|
ATN031 |
Atn1-Related Neurodevelopmental Disorder |
10 |
2708 |
|
XLN207 |
X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome |
10 |
2709 |
c
|
DDX004 |
Ddx3x-Related Neurodevelopmental Disorder |
10 |
2710 |
|
MXL013 |
Maxillary Arteriovenous Malformation |
10 |
2711 |
|
16Q002 |
16q24.1 Microdeletion Syndrome |
10 |
2712 |
|
TRG018 |
Trigonocephaly-Broad Thumbs Syndrome |
10 |
2713 |
|
DST084 |
Distal Trisomy 8q |
10 |
2714 |
|
DVL026 |
Developmental Defect of the Eye |
10 |
2715 |
|
FBL017 |
Fibular Dimelia-Diplopodia Syndrome |
10 |
2716 |
|
NNS059 |
Non-Syndromic Limb Reduction Defect |
10 |
2717 |
|
PLR014 |
Pleuro-Pericardial Cyst |
10 |
2718 |
|
CLS027 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form |
10 |
2719 |
c
|
BNM026 |
Bone Mineral Density Quantitative Trait Locus 12 |
10 |
2720 |
|
MLT171 |
Multiple Epiphyseal Dysplasia and Pseudoachondroplasia |
9 |
2721 |
c
|
ACQ029 |
Acquired Porencephaly |
9 |
2722 |
c
|
STD003 |
Setd1b-Related Neurodevelopmental Disorder |
9 |
2723 |
|
ISL064 |
Isolated Ankyloblepharon Filiforme Adnatum |
9 |
2724 |
|
CNG359 |
Congenitally Uncorrected Transposition of the Great Arteries with Coarctation |
9 |
2725 |
c
|
BNM017 |
Bone Mineral Density Quantitative Trait Locus 2 |
9 |
2726 |
|
GST021 |
Gestational Uterine Corpus Choriocarcinoma |
9 |
2727 |
|
NNR005 |
Non-Rhizomelic Chondrodysplasia Punctata |
9 |
2728 |
|
ISL058 |
Isolated Anencephaly/exencephaly |
9 |
2729 |
|
TRF003 |
Traf7-Associated Heart Defect-Digital Anomalies-Facial Dysmorphism-Motor and Speech Delay Syndrome |
9 |
2730 |
|
ART161 |
Aortic Malformation |
9 |
2731 |
c
|
BNM024 |
Bone Mineral Density Quantitative Trait Locus 10 |
9 |
2732 |
|
ISL050 |
Isolated Dandy-Walker Malformation with Hydrocephalus |
9 |
2733 |
|
NNS146 |
Non-Syndromic Unicoronal Craniosynostosis |
9 |
2734 |
|
ISL028 |
Isolated Cerebellar Vermis Hypoplasia |
9 |
2735 |
c
|
PPP002 |
Ppp2r5d-Related Neurodevelopmental Disorder |
9 |
2736 |
c
|
LRP007 |
Lrp5-Related Primary Osteoporosis |
9 |
2737 |
|
ISL022 |
Isolated Congenital Nasal Pyriform Aperture Stenosis |
9 |
2738 |
|
OKH002 |
Okihiro Syndrome Due to 20q13 Microdeletion |
8 |
2739 |
|
CNG334 |
Congenital Esophageal Diverticulum |
8 |
2740 |
c
|
LRY051 |
Laryngotracheoesophageal Cleft Type 1 |
8 |
2741 |
c
|
BNM028 |
Bone Mineral Density Quantitative Trait Locus 14 |
8 |
2742 |
c
|
BNM027 |
Bone Mineral Density Quantitative Trait Locus 13 |
8 |
2743 |
|
CNG290 |
Congenital Absence of Both Lower Leg and Foot |
8 |
2744 |
c
|
BNM019 |
Bone Mineral Density Quantitative Trait Locus 5 |
8 |
2745 |
c
|
BNM023 |
Bone Mineral Density Quantitative Trait Locus 9 |
8 |
2746 |
|
CRN073 |
Coronary Arteries Congenital Malformation |
8 |
2747 |
|
SBR010 |
Subaortic Course of Innominate Vein |
8 |
2748 |
|
ISL047 |
Isolated Unilateral Hemispheric Cerebellar Hypoplasia |
8 |
2749 |
c
|
RRB006 |
Rare Bone Development Disorder |
8 |
2750 |
|
NNS054 |
Non-Syndromic Postaxial Polydactyly |
8 |
2751 |
|
SYN127 |
Syndromic Ectopia Lentis |
8 |
2752 |
|
CMM016 |
Commissural Lip Fistula |
7 |
2753 |
c
|
BNM020 |
Bone Mineral Density Quantitative Trait Locus 6 |
7 |
2754 |
|
2P1003 |
2p13.2 Microdeletion Syndrome |
7 |
2755 |
c
|
BNM014 |
Bone Mineral Density Quantitative Trait Locus 4 |
7 |
2756 |
c
|
BNM025 |
Bone Mineral Density Quantitative Trait Locus 11 |
7 |
2757 |
|
CNG583 |
Congenital Urachal Anomaly |
7 |
2758 |
|
PRM335 |
Primary Bone Dysplasia with Multiple Joint Dislocations |
7 |
2759 |
|
PLM157 |
Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome |
7 |
2760 |
|
NNS055 |
Non-Syndromic Preaxial Polydactyly |
7 |
2761 |
c
|
BCK015 |
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 |
7 |
2762 |
|
ECT057 |
Ectasia of the Right Atrial Appendage |
7 |
2763 |
|
DYS208 |
Dysostosis with Brachydactyly |
7 |
2764 |
|
EPH004 |
Ephb4-Related Lymphatic-Related Hydrops Fetalis |
7 |
2765 |
|
ISL034 |
Isolated Megalencephaly |
7 |
2766 |
|
FTL049 |
Fetal Carbamazepine Syndrome |
7 |
2767 |
|
4Q2002 |
4q25 Proximal Deletion Syndrome |
7 |
2768 |
|
CNG107 |
Congenital Mitral Malformation |
7 |
2769 |
|
PRN015 |
Perinatal Intestinal Perforation |
7 |
2770 |
c
|
RRC006 |
Rare Acquired Hemolytic Anemia |
7 |
2771 |
c
|
HML055 |
Hemolytic Anemia Due to an Erythrocyte Nucleotide Metabolism Disorder |
7 |
2772 |
|
ISL079 |
Isolated Encephalocele |
7 |
2773 |
c
|
LSS018 |
Lissencephaly with Cerebellar Hypoplasia Type F |
7 |
2774 |
c
|
LSS021 |
Lissencephaly with Cerebellar Hypoplasia Type a |
7 |
2775 |
|
CNG351 |
Congenital Partial Pulmonary Venous Return Anomaly |
7 |
2776 |
|
PRM320 |
Primary Bone Dysplasia with Micromelia |
7 |
2777 |
|
DZX004< |