# |
Family |
MCID |
Name |
MIFTS |
1 |
|
FTL028 |
Fetal Retinoid Syndrome |
15 |
2 |
c
|
LYM144 |
Lymphatic Malformation 1 |
48 |
3 |
c
|
LYM145 |
Lymphatic Malformation 5 |
45 |
4 |
c
|
LYM150 |
Lymphatic Malformation 7 |
40 |
5 |
P
|
PRG092 |
Pregnancy Loss, Recurrent 1 |
40 |
6 |
P
|
RRL003 |
Rare Lymphatic Malformation |
31 |
7 |
c
|
LYM147 |
Lymphatic Malformation 3 |
23 |
8 |
c
|
LYM148 |
Lymphatic Malformation 4 |
22 |
9 |
c
|
LYM146 |
Lymphatic Malformation 2 |
16 |
10 |
P
|
PRM252 |
Preimplantation Embryonic Lethality 1 |
21 |
11 |
|
TWN001 |
Twin-to-Twin Transfusion Syndrome |
45 |
12 |
|
NCH001 |
Nuchal Bleb, Familial |
24 |
13 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
43 |
14 |
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
43 |
15 |
|
EMB006 |
Embryonal Testis Carcinoma |
31 |
16 |
|
PDT006 |
Pediatric Cns Embryonal Cell Carcinoma |
8 |
17 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
53 |
18 |
|
FTL004 |
Fetal Erythroblastosis |
31 |
19 |
c
|
ADL007 |
Adult Central Nervous System Embryonal Carcinoma |
7 |
20 |
c
|
FTL072 |
Fetal Akinesia Deformation Sequence 4 |
38 |
21 |
c
|
FTL070 |
Fetal Akinesia Deformation Sequence 2 |
36 |
22 |
c
|
FTL071 |
Fetal Akinesia Deformation Sequence 3 |
28 |
23 |
|
FTL066 |
Fetal Akinesia Syndrome, X-Linked |
14 |
24 |
|
FTL011 |
Fetal Aminopterin Syndrome |
11 |
25 |
|
ACT091 |
Acitretin Embryopathy |
7 |
26 |
|
CHL153 |
Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified |
5 |
27 |
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
44 |
28 |
|
INT041 |
Intratubular Embryonal Carcinoma |
25 |
29 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
24 |
30 |
|
DFN191 |
Deafness, Congenital Heart Defects, and Posterior Embryotoxon |
20 |
31 |
c
|
PRM251 |
Preimplantation Embryonic Lethality 2 |
16 |
32 |
c
|
PRS137 |
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant |
11 |
33 |
c
|
CTR102 |
Cataract 2, Multiple Types |
31 |
34 |
|
ORB002 |
Orbit Embryonal Rhabdomyosarcoma |
30 |
35 |
|
PRS010 |
Prostate Embryonal Rhabdomyosarcoma |
27 |
36 |
|
MTR016 |
Maternal Hyperphenylalaninemia |
19 |
37 |
c
|
FTL035 |
Fetal Hemoglobin Quantitative Trait Locus 3 |
15 |
38 |
|
CRD031 |
Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification |
8 |
39 |
|
VLV013 |
Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma |
5 |
40 |
|
NNC014 |
Non-Central Nervous System-Localized Embryonal Carcinoma |
5 |
41 |
c
|
RBN018 |
Robinow Syndrome, Autosomal Dominant 1 |
51 |
42 |
|
GCH018 |
Gaucher Disease, Perinatal Lethal |
41 |
43 |
|
EMB002 |
Embryoma |
38 |
44 |
|
ALC001 |
Alcohol-Related Birth Defect |
36 |
45 |
|
PRM208 |
Parameningeal Embryonal Rhabdomyosarcoma |
28 |
46 |
|
PRT001 |
Partial Fetal Alcohol Syndrome |
24 |
47 |
|
FTL021 |
Fetal Macrosomia |
42 |
48 |
c
|
CTR132 |
Cataract 3, Multiple Types |
41 |
49 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
40 |
50 |
c
|
NML025 |
Nemaline Myopathy 8 |
36 |
51 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
35 |
52 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
34 |
53 |
c
|
LTH047 |
Lethal Congenital Contracture Syndrome 3 |
27 |
54 |
c
|
DYR001 |
Dyrk1a-Related Intellectual Disability Syndrome |
25 |
55 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
24 |
56 |
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
24 |
57 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
23 |
58 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
21 |
59 |
|
PRV001 |
Parovarian Cyst |
21 |
60 |
|
FTL005 |
Fetal Adenoma |
20 |
61 |
c
|
SYN073 |
Syngap1-Related Intellectual Disability |
17 |
62 |
c
|
BCL018 |
Bcl11a-Related Intellectual Disability |
15 |
63 |
|
CCN012 |
Cocaine Antenatal Exposure |
14 |
64 |
|
NNT022 |
Neonatal Ovarian Cyst |
14 |
65 |
c
|
RR2001 |
Ror2-Related Robinow Syndrome |
13 |
66 |
c
|
CSK002 |
Cask-Related Intellectual Disability |
13 |
67 |
|
HYD069 |
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism |
11 |
68 |
P
|
FTL014 |
Fetal Brain Disruption Sequence |
11 |
69 |
c
|
FTL034 |
Fetal Hemoglobin Quantitative Trait Locus 4 |
11 |
70 |
c
|
HVP001 |
Hivep2-Related Intellectual Disability |
10 |
71 |
c
|
TRR002 |
Trio-Related Intellectual Disability |
10 |
72 |
c
|
WCR002 |
Wac-Related Intellectual Disability |
10 |
73 |
c
|
WDR002 |
Wdr26-Related Intellectual Disability |
9 |
74 |
P
|
RRN017 |
Rare Intellectual Disability |
9 |
75 |
c
|
ATS410 |
Autosomal Dominant Intellectual Disability 49 |
8 |
76 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
8 |
77 |
|
CHL030 |
Childhood Botryoid Rhabdomyosarcoma |
8 |
78 |
|
THY113 |
Thymic Aplasia with Fetal Death |
8 |
79 |
c
|
PPP001 |
Ppp2r5d-Related Intellectual Disability |
8 |
80 |
c
|
INT307 |
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation |
7 |
81 |
c
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
6 |
82 |
c
|
ATS348 |
Autosomal Dominant Intellectual Disability 30 |
5 |
83 |
|
RRG014 |
Rare Genetic Developmental Defect During Embryogenesis |
5 |
84 |
|
MXD015 |
Mixed Type Rhabdomyosarcoma |
5 |
85 |
c
|
SN3001 |
Sin3a-Related Intellectual Disability Syndrome |
5 |
86 |
|
SMT021 |
Somatomedin, Embryonic |
4 |
87 |
c
|
ACS002 |
Acsl4-Related Intellectual Disability |
3 |
88 |
c
|
ARX002 |
Arx-Related Intellectual Disability |
3 |
89 |
c
|
DDX001 |
Ddx3x-Related Intellectual Disability |
3 |
90 |
|
FTL063 |
Fetal Nicotine Spectrum Disorder |
3 |
91 |
|
FTL020 |
Fetal Left Ventricular Aneurysm |
3 |
92 |
|
FTL017 |
Fetal Enterovirus Syndrome |
2 |
93 |
|
FTL025 |
Fetal Parainfluenza Virus Type 3 Syndrome |
1 |
94 |
|
FTL027 |
Fetal Phenothiazine Syndrome |
1 |
95 |
|
KPS004 |
Kaposi Sarcoma |
75 |
96 |
|
DWN001 |
Down Syndrome |
70 |
97 |
P
|
OST001 |
Osteopetrosis |
70 |
98 |
P
|
TRN020 |
Turner Syndrome |
67 |
99 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
66 |
100 |
P
|
LYS001 |
Loeys-Dietz Syndrome |
65 |
101 |
P
|
CTS001 |
Cutis Laxa |
65 |
102 |
|
RBR001 |
Roberts Syndrome |
64 |
103 |
|
INC021 |
Incontinentia Pigmenti |
63 |
104 |
|
CNT061 |
Conotruncal Heart Malformations |
63 |
105 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
63 |
106 |
P
|
ECT006 |
Ectodermal Dysplasia |
62 |
107 |
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
61 |
108 |
P
|
STS008 |
Sotos Syndrome 1 |
61 |
109 |
|
PTN001 |
Patent Foramen Ovale |
60 |
110 |
|
CFF002 |
Coffin-Lowry Syndrome |
60 |
111 |
|
OST024 |
Osteoporosis-Pseudoglioma Syndrome |
60 |
112 |
|
KLP010 |
Klippel-Trenaunay-Weber Syndrome |
59 |
113 |
|
WVR001 |
Weaver Syndrome |
59 |
114 |
P
|
PLY006 |
Polydactyly |
59 |
115 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
116 |
P
|
SYP003 |
Syphilis |
58 |
117 |
|
CSY001 |
C Syndrome |
58 |
118 |
c
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
58 |
119 |
|
NWB001 |
Newborn Respiratory Distress Syndrome |
58 |
120 |
P
|
VND007 |
Van Der Woude Syndrome 1 |
58 |
121 |
|
MBS002 |
Moebius Syndrome |
57 |
122 |
c
|
OTS013 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
57 |
123 |
c
|
PRX059 |
Peroxisome Biogenesis Disorder 1a |
56 |
124 |
c
|
BRC078 |
Brachydactyly, Type A1 |
56 |
125 |
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
55 |
126 |
|
EBS001 |
Ebstein Anomaly |
55 |
127 |
|
DFN344 |
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome |
55 |
128 |
c
|
OST163 |
Osteopetrosis, Autosomal Recessive 3 |
55 |
129 |
P
|
FNG006 |
Feingold Syndrome 1 |
55 |
130 |
|
DXT001 |
Dextrocardia |
55 |
131 |
|
CHR101 |
Char Syndrome |
55 |
132 |
|
CLF004 |
Cleft Lip/palate |
54 |
133 |
|
TRC062 |
Tricuspid Atresia |
54 |
134 |
c
|
SPN297 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
54 |
135 |
|
LTR009 |
Lateral Meningocele Syndrome |
53 |
136 |
P
|
CRN276 |
Corneal Endothelial Dystrophy |
52 |
137 |
|
MGL038 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
52 |
138 |
P
|
TRT010 |
Teratoma |
52 |
139 |
|
KGM001 |
Kagami-Ogata Syndrome |
51 |
140 |
|
OLG003 |
Oligohydramnios |
51 |
141 |
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
51 |
142 |
|
BRN003 |
Branchiooculofacial Syndrome |
51 |
143 |
P
|
HYP040 |
Hypospadias |
51 |
144 |
|
INC018 |
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia |
51 |
145 |
|
CHR005 |
Chorioamnionitis |
51 |
146 |
P
|
FRN012 |
Frontometaphyseal Dysplasia |
50 |
147 |
c
|
OST126 |
Osteopetrosis, Autosomal Recessive 1 |
49 |
148 |
|
CHN065 |
Choanal Atresia, Posterior |
49 |
149 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
48 |
150 |
|
PLC007 |
Placental Abruption |
48 |
151 |
|
MCR209 |
Microcephaly, Epilepsy, and Diabetes Syndrome |
47 |
152 |
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
47 |
153 |
|
SHP005 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
47 |
154 |
c
|
SHR068 |
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly |
47 |
155 |
|
MLY008 |
Molybdenum Cofactor Deficiency, Complementation Group a |
47 |
156 |
P
|
CRC039 |
Coarctation of Aorta |
47 |
157 |
c
|
OPT051 |
Opitz Gbbb Syndrome, Type I |
47 |
158 |
c
|
SPN310 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
46 |
159 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
46 |
160 |
|
CHR492 |
Chromosome 13q14 Deletion Syndrome |
46 |
161 |
P
|
MGL030 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
46 |
162 |
|
PLY012 |
Polyhydramnios |
46 |
163 |
|
HYP231 |
Hypothalamic Hamartomas |
46 |
164 |
|
CHR543 |
Chromosome 2q37 Deletion Syndrome |
46 |
165 |
P
|
PRX021 |
Proximal Symphalangism |
46 |
166 |
P
|
PRT042 |
Parietal Foramina |
46 |
167 |
|
PLC001 |
Placenta Accreta |
46 |
168 |
c
|
OST137 |
Osteopetrosis, Autosomal Recessive 4 |
45 |
169 |
|
ACR012 |
Aicardi Syndrome |
45 |
170 |
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
171 |
P
|
CMM008 |
Communicating Hydrocephalus |
45 |
172 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
45 |
173 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
174 |
c
|
XFP001 |
Xfe Progeroid Syndrome |
45 |
175 |
c
|
OST120 |
Osteopetrosis, Autosomal Recessive 5 |
45 |
176 |
|
ISL121 |
Isolated Split Hand-Split Foot Malformation |
45 |
177 |
|
MLC004 |
Mulchandani-Bhoj-Conlin Syndrome |
44 |
178 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
44 |
179 |
c
|
OST129 |
Osteopetrosis, Autosomal Recessive 2 |
44 |
180 |
|
CTY001 |
Cat Eye Syndrome |
44 |
181 |
|
MCR173 |
Microform Holoprosencephaly |
44 |
182 |
|
NNC002 |
Nance-Horan Syndrome |
44 |
183 |
|
MCR096 |
Macrocephaly/autism Syndrome |
44 |
184 |
c
|
RNG023 |
Ring Chromosome 7 |
44 |
185 |
c
|
ORT011 |
Orthostatic Hypotension 1 |
44 |
186 |
|
FNT005 |
Fontaine Progeroid Syndrome |
44 |
187 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
43 |
188 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
43 |
189 |
c
|
MLG081 |
Malignant Teratoma |
43 |
190 |
c
|
EHL087 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
43 |
191 |
|
LBR025 |
Lobar Holoprosencephaly |
43 |
192 |
|
KPS002 |
Kaposiform Hemangioendothelioma |
43 |
193 |
|
OLV004 |
Oliver-Mcfarlane Syndrome |
43 |
194 |
P
|
SPN081 |
Spondylocostal Dysostosis, Autosomal Recessive |
43 |
195 |
c
|
MNT319 |
Mental Retardation, Autosomal Dominant 20 |
42 |
196 |
|
BNB002 |
Bainbridge-Ropers Syndrome |
42 |
197 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
41 |
198 |
c
|
PST041 |
Posterior Urethral Valves |
41 |
199 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
41 |
200 |
c
|
SCN006 |
Secondary Syphilis |
40 |
201 |
c
|
FRN049 |
Frontometaphyseal Dysplasia 1 |
40 |
202 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
40 |
203 |
c
|
SHR071 |
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly |
40 |
204 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
40 |
205 |
|
MDL020 |
Midline Interhemispheric Variant of Holoprosencephaly |
40 |
206 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
40 |
207 |
|
CHR583 |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
40 |
208 |
c
|
CNG033 |
Congenital Syphilis |
40 |
209 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
39 |
210 |
|
PLC009 |
Placenta Praevia |
39 |
211 |
c
|
CTR130 |
Cataract 9, Multiple Types |
39 |
212 |
|
DXT002 |
Dextrocardia with Situs Inversus |
39 |
213 |
|
48X005 |
48,xyyy |
39 |
214 |
|
THR017 |
Thoracoabdominal Syndrome |
39 |
215 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
39 |
216 |
P
|
MNN007 |
Meningocele |
39 |
217 |
|
HYP636 |
Hypocalcemic Vitamin D-Dependent Rickets |
39 |
218 |
|
CHR518 |
Chromosome 9p Deletion Syndrome |
38 |
219 |
|
CRP035 |
Corpus Callosum, Partial Agenesis of, X-Linked |
38 |
220 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
38 |
221 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
38 |
222 |
|
CHR390 |
Chromosome 14q11-Q22 Deletion Syndrome |
38 |
223 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
38 |
224 |
|
CLF053 |
Cleft Palate with or Without Ankyloglossia, X-Linked |
37 |
225 |
|
RVL002 |
Ruvalcaba Syndrome |
37 |
226 |
P
|
OMD003 |
Omodysplasia |
37 |
227 |
c
|
BNG093 |
Benign Teratoma |
37 |
228 |
|
HMM004 |
Hamamy Syndrome |
37 |
229 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
37 |
230 |
|
CRP030 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia |
37 |
231 |
c
|
PRX063 |
Peroxisome Biogenesis Disorder 2a |
36 |
232 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
36 |
233 |
c
|
SCK029 |
Seckel Syndrome 7 |
36 |
234 |
c
|
MND002 |
Mandibuloacral Dysplasia with Type B Lipodystrophy |
36 |
235 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
36 |
236 |
|
PLY036 |
Polyembryoma |
36 |
237 |
|
CHR501 |
Chromosome 17q12 Deletion Syndrome |
36 |
238 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
36 |
239 |
c
|
PRX055 |
Peroxisome Biogenesis Disorder 11a |
36 |
240 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
36 |
241 |
c
|
EHL075 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
35 |
242 |
c
|
OST106 |
Osteopetrosis, Autosomal Recessive 8 |
35 |
243 |
c
|
FRN048 |
Frontometaphyseal Dysplasia 2 |
35 |
244 |
|
SYN063 |
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction |
35 |
245 |
|
OCL076 |
Oculopharyngodistal Myopathy 1 |
35 |
246 |
c
|
RBN020 |
Robinow Syndrome, Autosomal Dominant 3 |
35 |
247 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
35 |
248 |
P
|
MXD016 |
Mixed Gonadal Dysgenesis |
35 |
249 |
c
|
MNS014 |
Monosomy 22 |
35 |
250 |
c
|
PRT059 |
Parietal Foramina 1 |
34 |
251 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
34 |
252 |
P
|
CMP072 |
Camptodactyly Syndrome, Guadalajara, Type I |
34 |
253 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
34 |
254 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
34 |
255 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
34 |
256 |
|
EMN001 |
Emanuel Syndrome |
34 |
257 |
|
FCL090 |
Facial Cleft |
34 |
258 |
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
34 |
259 |
c
|
RNG020 |
Ring Chromosome 4 |
33 |
260 |
c
|
ADL057 |
Adult Teratoma |
33 |
261 |
P
|
ACR072 |
Acrorenal Syndrome |
33 |
262 |
|
FLP001 |
Filippi Syndrome |
33 |
263 |
c
|
45X001 |
45,x/46,xy Mixed Gonadal Dysgenesis |
33 |
264 |
|
ZTT001 |
Zttk Syndrome |
33 |
265 |
|
WTT002 |
Witteveen-Kolk Syndrome |
33 |
266 |
c
|
SYM022 |
Symphalangism, Proximal, 1a |
33 |
267 |
|
CHR523 |
Chromosome 15q11.2 Deletion Syndrome |
33 |
268 |
c
|
PRX051 |
Peroxisome Biogenesis Disorder 6a |
33 |
269 |
|
PRT049 |
Partial Deletion of Y |
33 |
270 |
|
PRG023 |
Progeroid Short Stature with Pigmented Nevi |
33 |
271 |
|
BRN133 |
Bronchomalacia |
33 |
272 |
c
|
BRC099 |
Brachydactyly, Type A4 |
32 |
273 |
|
MTP028 |
Metaphyseal Dysplasia, Spahr Type |
32 |
274 |
c
|
PRX054 |
Peroxisome Biogenesis Disorder 12a |
32 |
275 |
P
|
SCL047 |
Sclerocornea |
32 |
276 |
|
SPN012 |
Spindle Cell Hemangioma |
32 |
277 |
c
|
LTC001 |
Late Congenital Syphilis |
32 |
278 |
c
|
46X071 |
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect |
32 |
279 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
32 |
280 |
P
|
EHL083 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
32 |
281 |
|
TRC035 |
Tracheal Agenesis |
31 |
282 |
c
|
PRX057 |
Peroxisome Biogenesis Disorder 4a |
31 |
283 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
31 |
284 |
|
48X003 |
48,xxyy Syndrome |
31 |
285 |
c
|
SYN060 |
Syndactyly, Type Iii |
31 |
286 |
|
CHR226 |
Chromosome 1q41-Q42 Deletion Syndrome |
31 |
287 |
|
SDD002 |
Sudden Infant Death with Dysgenesis of the Testes Syndrome |
31 |
288 |
|
CDL005 |
Caudal Duplication Anomaly |
31 |
289 |
|
OCL033 |
Oculocerebral Syndrome with Hypopigmentation |
31 |
290 |
|
INF021 |
Infant Gynecomastia |
31 |
291 |
c
|
RNG008 |
Ring Chromosome 13 |
31 |
292 |
c
|
PRX048 |
Peroxisome Biogenesis Disorder 10a |
31 |
293 |
c
|
PRM022 |
Primary Syphilis |
31 |
294 |
c
|
PRT060 |
Parietal Foramina 2 |
31 |
295 |
c
|
PRX065 |
Peroxisome Biogenesis Disorder 3a |
30 |
296 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
30 |
297 |
|
ANR010 |
Aneurysm of Sinus of Valsalva |
30 |
298 |
c
|
MYS044 |
Myasthenic Syndrome, Congenital, 7, Presynaptic |
30 |
299 |
|
PLM058 |
Pulmonary Atresia with Intact Ventricular Septum |
30 |
300 |
c
|
SYN061 |
Syndactyly, Type Iv |
30 |
301 |
|
MSC021 |
Mosaic Trisomy 9 |
30 |
302 |
c
|
RNG018 |
Ring Chromosome 22 |
30 |
303 |
P
|
MTR051 |
Maternal Uniparental Disomy of Chromosome 1 |
30 |
304 |
c
|
PRX050 |
Peroxisome Biogenesis Disorder 9b |
30 |
305 |
|
AML065 |
Amelia |
30 |
306 |
|
PYR018 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
30 |
307 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
30 |
308 |
|
DGT009 |
Digitotalar Dysmorphism |
29 |
309 |
c
|
PRX046 |
Peroxisome Biogenesis Disorder 7a |
29 |
310 |
P
|
VNM004 |
Van Maldergem Syndrome |
29 |
311 |
P
|
ACR106 |
Acrocephalopolysyndactyly Type Iii |
29 |
312 |
c
|
VNT028 |
Ventricular Septal Defect 1 |
29 |
313 |
|
ART158 |
Arthrogryposis Multiplex Congenita, Myogenic Type |
29 |
314 |
|
CNG437 |
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay |
29 |
315 |
c
|
RNG005 |
Ring Chromosome 10 |
29 |
316 |
c
|
PRX043 |
Peroxisome Biogenesis Disorder 6b |
29 |
317 |
|
SKR001 |
Skraban-Deardorff Syndrome |
29 |
318 |
c
|
HYD040 |
Hydrolethalus Syndrome 2 |
29 |
319 |
|
MCR321 |
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation |
29 |
320 |
|
CRN264 |
Craniosynostosis with Fibular Aplasia |
29 |
321 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
29 |
322 |
|
CHR399 |
Chromosome 4q21 Deletion Syndrome |
29 |
323 |
P
|
PRG139 |
Progeroid Syndrome |
28 |
324 |
|
TTR023 |
Tetraamelia-Multiple Malformations Syndrome |
28 |
325 |
|
WLD004 |
Wildervanck Syndrome |
28 |
326 |
|
SPN328 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
28 |
327 |
|
CHN045 |
Chondrodysplasia with Joint Dislocations, Gpapp Type |
28 |
328 |
|
UVL009 |
Uvula, Bifid |
28 |
329 |
|
NNT005 |
Neonatal Candidiasis |
28 |
330 |
|
CHR229 |
Chromosome 20p Duplication |
28 |
331 |
|
HYP728 |
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia |
28 |
332 |
|
CHR265 |
Chromosome 8p Duplication |
28 |
333 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
27 |
334 |
c
|
PRX091 |
Peroxisome Biogenesis Disorder 8a |
27 |
335 |
c
|
PRX052 |
Peroxisome Biogenesis Disorder 13a |
27 |
336 |
P
|
TRS029 |
Trisomy 1q |
27 |
337 |
|
CHR268 |
Chromosome 8q Duplication |
27 |
338 |
|
48X001 |
48, Xxxx |
27 |
339 |
|
CHR588 |
Chromosome 8q22.1 Duplication Syndrome |
27 |
340 |
c
|
PRX053 |
Peroxisome Biogenesis Disorder 14b |
27 |
341 |
c
|
PRX058 |
Peroxisome Biogenesis Disorder 4b |
27 |
342 |
c
|
RNG007 |
Ring Chromosome 12 |
27 |
343 |
|
FMR016 |
Femur-Fibula-Ulna Syndrome |
27 |
344 |
c
|
PRX047 |
Peroxisome Biogenesis Disorder 5b |
27 |
345 |
|
MYM012 |
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism |
27 |
346 |
|
CLF046 |
Cleft Lip/palate with Abnormal Thumbs and Microcephaly |
27 |
347 |
|
RCM003 |
Recombinant Chromosome 8 Syndrome |
27 |
348 |
|
CHR010 |
Chorioangioma |
27 |
349 |
P
|
ACR093 |
Acrofrontofacionasal Dysostosis |
27 |
350 |
|
ECT089 |
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia |
27 |
351 |
|
EPP020 |
Epiphyseal Dysplasia, Microcephaly, and Nystagmus |
27 |
352 |
|
ASS004 |
Aase-Smith Syndrome I |
27 |
353 |
|
MSC016 |
Mosaic Trisomy 14 |
26 |
354 |
c
|
RNG015 |
Ring Chromosome 2 |
26 |
355 |
c
|
ORT012 |
Orthostatic Hypotension 2 |
26 |
356 |
c
|
ACQ029 |
Acquired Porencephaly |
26 |
357 |
|
HYP180 |
Hypertrichosis Lanuginosa Congenita |
26 |
358 |
P
|
RCR026 |
Recurrent Hydatidiform Mole |
26 |
359 |
|
HMF010 |
Hemifacial Microsomia with Radial Defects |
26 |
360 |
|
BLP041 |
Blepharochalasis and Double Lip |
26 |
361 |
|
CRT028 |
Cor Triatriatum |
26 |
362 |
P
|
PRX064 |
Peroxisome Biogenesis Disorder 2b |
26 |
363 |
P
|
PST016 |
Posterior Polar Cataract |
26 |
364 |
|
CDG001 |
Cdags Syndrome |
26 |
365 |
|
PGD001 |
Pagod Syndrome |
26 |
366 |
|
BRC091 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
26 |
367 |
c
|
SHR115 |
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly |
26 |
368 |
c
|
PRX066 |
Peroxisome Biogenesis Disorder 3b |
26 |
369 |
|
CHR621 |
Chromosome 16p11.2 Deletion Syndrome, 593-Kb |
26 |
370 |
|
HRD037 |
Hardikar Syndrome |
26 |
371 |
|
PNL023 |
Penile Agenesis |
25 |
372 |
c
|
ACQ027 |
Acquired Cutis Laxa |
25 |
373 |
|
CHR212 |
Chromosome 18p Duplication |
25 |
374 |
c
|
SPN307 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
25 |
375 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
25 |
376 |
c
|
PTN012 |
Patent Ductus Arteriosus 3 |
25 |
377 |
P
|
PRM227 |
Primary Orthostatic Hypotension |
25 |
378 |
c
|
TRS012 |
Trisomy 22 |
25 |
379 |
c
|
MGL028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
25 |
380 |
|
DGR006 |
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 |
25 |
381 |
|
CMP097 |
Complex Chromosomal Rearrangement |
25 |
382 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
383 |
c
|
FNG009 |
Feingold Syndrome 2 |
25 |
384 |
c
|
PRX062 |
Peroxisome Biogenesis Disorder 8b |
25 |
385 |
c
|
PRX056 |
Peroxisome Biogenesis Disorder 11b |
25 |
386 |
c
|
MYS082 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
25 |
387 |
c
|
ERL002 |
Early Congenital Syphilis |
25 |
388 |
|
KLP016 |
Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism |
25 |
389 |
|
CHR252 |
Chromosome 5p Duplication |
24 |
390 |
c
|
RNG017 |
Ring Chromosome 21 |
24 |
391 |
c
|
SYM019 |
Symphalangism, Proximal, 1b |
24 |
392 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
24 |
393 |
|
MCR067 |
Microcoria, Congenital |
24 |
394 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
24 |
395 |
c
|
PRX068 |
Peroxisome Biogenesis Disorder 7b |
24 |
396 |
|
BCR002 |
Bicornuate Uterus |
24 |
397 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
24 |
398 |
|
DFF022 |
Diffuse Neonatal Hemangiomatosis |
24 |
399 |
P
|
UNP013 |
Uniparental Disomy of Chromosome 1 |
24 |
400 |
c
|
ATS451 |
Autosomal Recessive Cutis Laxa Type 2 |
24 |
401 |
|
INT337 |
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies |
23 |
402 |
|
BRN129 |
Branchial Cleft Anomalies |
23 |
403 |
|
ACR101 |
Acrocraniofacial Dysostosis |
23 |
404 |
c
|
ACR103 |
Acrofrontofacionasal Dysostosis 1 |
23 |
405 |
|
PRT091 |
Partial Cryptophthalmia |
23 |
406 |
c
|
ACR105 |
Acrofrontofacionasal Dysostosis 2 |
23 |
407 |
|
RGH006 |
Right Aortic Arch |
23 |
408 |
|
ADD006 |
Adducted Thumbs Syndrome |
23 |
409 |
P
|
SPN236 |
Spina Bifida Cystica |
23 |
410 |
|
HYP212 |
Hypomandibular Faciocranial Dysostosis |
23 |
411 |
|
SPL054 |
Splenogonadal Fusion with Limb Defects and Micrognathia |
23 |
412 |
|
FCC002 |
Faciocardiorenal Syndrome |
23 |
413 |
|
CHR610 |
Chromosome 10q22.3-Q23.2 Deletion Syndrome |
23 |
414 |
P
|
SYN140 |
Syndrome with 46,xy Disorder of Sex Development |
23 |
415 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
23 |
416 |
|
CMP104 |
Complete Atrioventricular Septal Defect with Ventricular Hypoplasia |
23 |
417 |
c
|
HYD041 |
Hydatidiform Mole, Recurrent, 2 |
23 |
418 |
c
|
SPN215 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
23 |
419 |
c
|
MGL029 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
23 |
420 |
|
SCH031 |
Scholte Syndrome |
22 |
421 |
|
TTR021 |
Tetrasomy 21 |
22 |
422 |
|
SYM024 |
Symphalangism, Distal |
22 |
423 |
c
|
INT005 |
Intermediate Malignant Teratoma |
22 |
424 |
|
2Q3005 |
2q31.1 Microdeletion Syndrome |
22 |
425 |
|
PLY135 |
Polydactyly, Postaxial, with Progressive Myopia |
22 |
426 |
|
8PN001 |
8p Inverted Duplication/deletion Syndrome |
22 |
427 |
c
|
PTN013 |
Patent Ductus Arteriosus 2 |
22 |
428 |
|
HFN001 |
Hao-Fountain Syndrome |
22 |
429 |
|
LMB014 |
Limb-Body Wall Complex |
22 |
430 |
|
INT231 |
Intellectual Disability - Athetosis - Microphthalmia |
22 |
431 |
c
|
OST171 |
Osteopetrosis, Autosomal Dominant 3 |
21 |
432 |
|
ORB019 |
Orbital Margin, Hypoplasia of |
21 |
433 |
|
HMH003 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
21 |
434 |
|
MSM019 |
Mesomelic Dysplasia, Savarirayan Type |
21 |
435 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
21 |
436 |
|
MSL005 |
Mseleni Joint Disease |
21 |
437 |
c
|
PLY137 |
Polydactyly, Preaxial Iii |
21 |
438 |
|
ACR019 |
Acropectoral Syndrome |
21 |
439 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
21 |
440 |
c
|
ANT087 |
Anterior Segment Dysgenesis 6 |
21 |
441 |
|
MCR308 |
Microcephalic Primordial Dwarfism, Toriello Type |
21 |
442 |
|
MLT173 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability |
21 |
443 |
|
ULN005 |
Ulna and Fibula, Hypoplasia of |
21 |
444 |
|
CLV012 |
Clavicle, Pseudarthrosis of, Congenital |
21 |
445 |
|
XQ2003 |
Xq25 Duplication Syndrome |
21 |
446 |
|
CHR368 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
21 |
447 |
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
21 |
448 |
|
BRC098 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
21 |
449 |
c
|
SPN417 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
21 |
450 |
|
CRN076 |
Crane-Heise Syndrome |
20 |
451 |
|
PLM116 |
Pulmonary Artery Hypoplasia |
20 |
452 |
|
ANM074 |
Anomalous Origin of Coronary Artery from the Pulmonary Artery |
20 |
453 |
|
ECT085 |
Ectopia Cordis |
20 |
454 |
|
CRT061 |
Cor Triatriatum Dexter |
20 |
455 |
|
DST037 |
Distal Monosomy 9p |
20 |
456 |
c
|
MNS011 |
Monosomy 9q22.3 |
20 |
457 |
|
DPL007 |
Duplication of Urethra |
20 |
458 |
|
DST044 |
Distal Trisomy 14q |
20 |
459 |
c
|
PRX089 |
Peroxisome Biogenesis Disorder 10b |
20 |
460 |
|
ULN024 |
Ulnar/fibular Ray Defect and Brachydactyly |
19 |
461 |
c
|
RNG012 |
Ring Chromosome 17 |
19 |
462 |
|
SBR011 |
Subaortic Stenosis--Short Stature Syndrome |
19 |
463 |
c
|
ATS454 |
Autosomal Trisomy |
19 |
464 |
|
CRB161 |
Cerebellar Ataxia and Ectodermal Dysplasia |
19 |
465 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
19 |
466 |
|
BRC093 |
Brachydactyly, Preaxial, with Hallux Varus and Thumb Abduction |
19 |
467 |
|
CHR182 |
Chromosome 10p Duplication |
19 |
468 |
|
SMM003 |
Summitt Syndrome |
19 |
469 |
|
CHR584 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb |
19 |
470 |
|
19P001 |
19p13.12 Microdeletion Syndrome |
19 |
471 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
19 |
472 |
|
PLD002 |
Pilodental Dysplasia with Refractive Errors |
19 |
473 |
|
NSL017 |
Nasolacrimal Duct Cyst |
19 |
474 |
|
MLT148 |
Multiple Pterygium Syndrome, X-Linked |
19 |
475 |
|
XLN232 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
19 |
476 |
c
|
RNG006 |
Ring Chromosome 11 |
19 |
477 |
c
|
ACR108 |
Acrocephalopolysyndactyly Type Iv |
19 |
478 |
|
DST045 |
Distal Trisomy 6p |
19 |
479 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
19 |
480 |
c
|
STS009 |
Sotos Syndrome 3 |
18 |
481 |
|
CRV063 |
Cervical Spina Bifida Aperta |
18 |
482 |
|
NSL020 |
Nasal Glial Heterotopia |
18 |
483 |
|
MSC019 |
Mosaic Trisomy 7 |
18 |
484 |
|
SCL051 |
Scalp Defects and Postaxial Polydactyly |
18 |
485 |
|
OMP008 |
Omphalocele-Cleft Palate Syndrome, Lethal |
18 |
486 |
|
KNS006 |
Kniest-Like Dysplasia, Lethal |
18 |
487 |
c
|
UNP012 |
Uniparental Disomy of Chromosome 7 |
18 |
488 |
|
MSC081 |
Mosaic Trisomy 15 |
18 |
489 |
|
RHZ012 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
18 |
490 |
|
ORM001 |
Oro-Mandibular-Limb Hypogenesis Syndrome |
18 |
491 |
|
CNG284 |
Congenital Pseudoarthrosis of the Tibia |
18 |
492 |
|
NNR005 |
Non-Rhizomelic Chondrodysplasia Punctata |
18 |
493 |
|
SPN132 |
Spondyloepimetaphyseal Dysplasia with Hypotrichosis |
18 |
494 |
c
|
ECT114 |
Ectodermal Dysplasia 10b |
18 |
495 |
|
MCD004 |
Macdermot-Winter Syndrome |
18 |
496 |
|
21Q001 |
21q22.11q22.12 Microdeletion Syndrome |
18 |
497 |
c
|
ERL044 |
Early-Onset Posterior Polar Cataract |
18 |
498 |
|
BLT023 |
Bilateral Acute Depigmentation of the Iris |
18 |
499 |
|
BLP042 |
Blepharoptosis, Myopia, and Ectopia Lentis |
18 |
500 |
|
VNT031 |
Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence |
18 |
501 |
|
FRY007 |
Fryns Macrocephaly |
18 |
502 |
|
CRN224 |
Craniofaciofrontodigital Syndrome |
18 |
503 |
|
PLY088 |
Polyvalvular Heart Disease Syndrome |
18 |
504 |
|
BRC090 |
Brachydactyly-Ectrodactyly with Fibular Aplasia or Hypoplasia |
18 |
505 |
|
SPN243 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
18 |
506 |
|
INV022 |
Inverted Duplicated Chromosome 15 Syndrome |
18 |
507 |
|
FCL064 |
Facial Dysmorphism with Multiple Malformations |
17 |
508 |
|
PLY133 |
Polysyndactyly with Cardiac Malformation |
17 |
509 |
|
EPB002 |
Epiblepharon |
17 |
510 |
c
|
MTR062 |
Maternal Uniparental Disomy of Chromosome 4 |
17 |
511 |
|
CXR001 |
Coxoauricular Syndrome |
17 |
512 |
|
DYS180 |
Dyschondrosteosis and Nephritis |
17 |
513 |
c
|
SYN040 |
Synpolydactyly 3 |
17 |
514 |
|
1QD001 |
1q Duplications |
17 |
515 |
|
TBB005 |
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies |
17 |
516 |
|
ABS016 |
Absence of the Pulmonary Artery |
17 |
517 |
|
SYM011 |
Symphalangism with Multiple Anomalies of Hands and Feet |
17 |
518 |
|
GND012 |
Gonadal Dysgenesis, Xy Type, with Associated Anomalies |
17 |
519 |
c
|
TTL009 |
Total Spina Bifida Aperta |
17 |
520 |
|
CNG108 |
Congenital Mitral Stenosis |
17 |
521 |
|
PLM067 |
Pulmonary Valves Agenesis |
17 |
522 |
|
DPH023 |
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull |
17 |
523 |
c
|
PST077 |
Posterior Meningocele |
17 |
524 |
|
DST069 |
Distal Monosomy 12q |
17 |
525 |
|
THR033 |
Thoracomelic Dysplasia |
17 |
526 |
|
SXC007 |
Sex-Chromosome Anomaly |
17 |
527 |
c
|
MTR063 |
Maternal Uniparental Disomy of Chromosome 2 |
17 |
528 |
|
SPN353 |
Spondylometaphyseal Dysplasia, X-Linked |
17 |
529 |
|
KMM002 |
Kommerell Diverticulum |
16 |
530 |
c
|
MTR061 |
Maternal Uniparental Disomy of Chromosome 6 |
16 |
531 |
c
|
CMP088 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
16 |
532 |
|
TRS011 |
Trisomy 2 Mosaicism |
16 |
533 |
|
14Q001 |
14q12 Microdeletion Syndrome |
16 |
534 |
|
HYD051 |
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis |
16 |
535 |
|
DYS049 |
Dysplastic Cortical Hyperostosis |
16 |
536 |
|
CRV066 |
Cervical Aortic Arch |
16 |
537 |
|
PLM065 |
Pulmonary Supravalvular Stenosis |
16 |
538 |
|
PRN057 |
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations |
16 |
539 |
|
MCR358 |
Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
16 |
540 |
c
|
UNP011 |
Uniparental Disomy of Chromosome 14 |
16 |
541 |
|
ALB022 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
16 |
542 |
c
|
HYD068 |
Hydatidiform Mole, Recurrent, 4 |
16 |
543 |
|
PTN009 |
Patent Urachus |
16 |
544 |
|
MTP033 |
Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria |
16 |
545 |
|
CLD006 |
Cleidorhizomelic Syndrome |
16 |
546 |
|
49X005 |
49, Xxxyy Syndrome |
16 |
547 |
|
CMP016 |
Camptobrachydactyly |
16 |
548 |
c
|
PST093 |
Posterior Hypospadias |
16 |
549 |
c
|
PRT113 |
Parietal Foramina 3 |
16 |
550 |
|
LRS009 |
Larsen-Like Syndrome, Lethal Type |
16 |
551 |
|
MRF018 |
Marfanoid Habitus with Microcephaly and Glomerulonephritis |
16 |
552 |
|
NNS061 |
Non-Syndromic Pontocerebellar Hypoplasia |
16 |
553 |
|
6Q1002 |
6q16 Microdeletion Syndrome |
16 |
554 |
c
|
ISC010 |
Isochromosome Yp |
16 |
555 |
c
|
CHR180 |
Chromosome 10, Uniparental Disomy |
16 |
556 |
|
8P1001 |
8p11.2 Deletion Syndrome |
15 |
557 |
c
|
CNT108 |
Central Polydactyly |
15 |
558 |
|
11Q001 |
11q22.2q22.3 Microdeletion Syndrome |
15 |
559 |
|
20P002 |
20p13 Microdeletion Syndrome |
15 |
560 |
|
XP2002 |
Xp22.13p22.2 Duplication Syndrome |
15 |
561 |
|
MDL016 |
Midline Cervical Cleft |
15 |
562 |
|
TRM028 |
Terminal Transverse Limb Defect |
15 |
563 |
|
5Q3002 |
5q31.3 Microdeletion Syndrome |
15 |
564 |
|
CYS047 |
Cystic Fibrosis, Modifier of, 1 |
15 |
565 |
c
|
HYD070 |
Hydrocephalus, Congenital Communicating, 1 |
15 |
566 |
|
EXT058 |
Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly |
15 |
567 |
|
DST038 |
Distal Monosomy 7q36 |
15 |
568 |
|
DSP003 |
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions |
15 |
569 |
|
49X004 |
49,xyyyy Syndrome |
15 |
570 |
|
RDL028 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema |
15 |
571 |
|
20P001 |
20p12.3 Microdeletion Syndrome |
15 |
572 |
|
PRR030 |
Pierre Robin Sequence with Facial and Digital Anomalies |
15 |
573 |
c
|
UNP008 |
Uniparental Disomy of Chromosome 15 |
15 |
574 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
15 |
575 |
|
CNS012 |
Cono-Spondylar Dysplasia |
15 |
576 |
P
|
ISL029 |
Isolated Anorectal Malformation |
15 |
577 |
c
|
LGB002 |
Leg, Absence Deformity of, with Congenital Cataract |
15 |
578 |
|
ESP040 |
Esophageal Duplication Cyst |
15 |
579 |
c
|
CLC009 |
Clcn7-Related Osteopetrosis |
15 |
580 |
c
|
SX2003 |
Six2-Related Frontonasal Dysplasia |
15 |
581 |
|
TRN046 |
Transverse Vaginal Septum |
15 |
582 |
|
PHK006 |
Phakomatosis Pigmentokeratotica |
14 |
583 |
c
|
UNP007 |
Uniparental Disomy of Chromosome 6 |
14 |
584 |
|
6P2001 |
6p22 Microdeletion Syndrome |
14 |
585 |
|
16P011 |
16p12.1p12.3 Triplication Syndrome |
14 |
586 |
|
PRT161 |
Partial Deletion of the Short Arm of Chromosome 3 |
14 |
587 |
|
19P003 |
19p13.3 Microduplication Syndrome |
14 |
588 |
|
CMP103 |
Complete Atrioventricular Septal Defect-Tetralogy of Fallot |
14 |
589 |
|
PSD091 |
Pseudounicornuate Uterus |
14 |
590 |
|
MNS013 |
Monosomy 13q34 |
14 |
591 |
c
|
HYP545 |
Hypospadias 3, Autosomal |
14 |
592 |
c
|
MTR060 |
Maternal Uniparental Disomy of Chromosome 9 |
14 |
593 |
|
HLL014 |
Hallux Varus and Preaxial Polysyndactyly |
14 |
594 |
|
MSC078 |
Mosaic Trisomy 17 |
14 |
595 |
|
PRS111 |
Persistent Fifth Aortic Arch |
14 |
596 |
|
PST111 |
Posterior Fossa Malformation |
14 |
597 |
|
16P005 |
16p11.2p12.2 Microduplication Syndrome |
14 |
598 |
|
PRT165 |
Partial Deletion of the Short Arm of Chromosome 7 |
14 |
599 |
|
20Q001 |
20q13.33 Microdeletion Syndrome |
14 |
600 |
|
FRT004 |
Fourth Branchial Cleft Anomaly |
13 |
601 |
|
10Q002 |
10q22.3q23.3 Microduplication Syndrome |
13 |
602 |
P
|
LRY049 |
Laryngotracheoesophageal Cleft Type 4 |
13 |
603 |
|
RCT033 |
Rectal Duplication |
13 |
604 |
|
PRM238 |
Primary Intralymphatic Angioendothelioma |
13 |
605 |
|
ATX036 |
Ataxia-Photosensitivity-Short Stature Syndrome |
13 |
606 |
c
|
CHN027 |
Chondrodysplasia Lethal Recessive |
13 |
607 |
|
ATL016 |
Atelencephaly |
13 |
608 |
|
CHR188 |
Chromosome 11q Duplication |
13 |
609 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
13 |
610 |
|
SYM015 |
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers |
13 |
611 |
|
NND003 |
Non-Distal Trisomy 10q |
13 |
612 |
|
IMP019 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
13 |
613 |
|
CNG241 |
Congenital Laryngeal Palsy |
13 |
614 |
|
CRN087 |
Craniomicromelic Syndrome |
13 |
615 |
c
|
SLV020 |
Silver-Russell Syndrome Due to a Point Mutation |
13 |
616 |
P
|
ANT062 |
Anterior Urethral Valve |
13 |
617 |
|
PRT087 |
Parietal Encephalocele |
13 |
618 |
|
DST052 |
Distal 7q11.23 Microduplication Syndrome |
13 |
619 |
|
BLT009 |
Bilateral Generalized Polymicrogyria |
13 |
620 |
|
CRN310 |
Cranial Malformation |
13 |
621 |
|
DST079 |
Distal Trisomy 5q |
13 |
622 |
|
FNG014 |
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature |
13 |
623 |
c
|
UNP003 |
Uniparental Disomy of Chromosome 11 |
12 |
624 |
|
CNG587 |
Congenital Limb Malformation |
12 |
625 |
|
CNG519 |
Congenital Gerbode Defect |
12 |
626 |
|
PRC041 |
Pericardial and Diaphragmatic Defect |
12 |
627 |
|
MTR084 |
Maternal Hyperthermia-Induced Birth Defects |
12 |
628 |
|
XSM001 |
X Small Rings |
12 |
629 |
|
9Q3001 |
9q31.1q31.3 Microdeletion Syndrome |
12 |
630 |
|
CNT102 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
12 |
631 |
c
|
CNG253 |
Congenital Communicating Hydrocephalus |
12 |
632 |
|
CNG235 |
Congenital Microgastria |
12 |
633 |
|
DNN007 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
12 |
634 |
|
INT294 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
12 |
635 |
c
|
TRS033 |
Trisomy 18-Like Syndrome |
12 |
636 |
|
LTR017 |
Lateral Facial Cleft |
12 |
637 |
|
ANN018 |
Anonychia, Total, with Microcephaly |
12 |
638 |
c
|
CRN068 |
Corneal Endothelial Dystrophy Type 2 |
12 |
639 |
|
IDP062 |
Idiopathic Syringomyelia |
12 |
640 |
|
CNG335 |
Congenital Ectropion Uveae |
12 |
641 |
|
CLF040 |
Cleft Lip-Retinopathy Syndrome |
12 |
642 |
|
ANM075 |
Anomalous Aortic Origin of Coronary Artery |
12 |
643 |
|
MSC090 |
Mosaic Trisomy 3 |
12 |
644 |
|
LFT022 |
Left Sided Atrial Isomerism |
12 |
645 |
|
ERL036 |
Early-Onset Posterior Subcapsular Cataract |
12 |
646 |
|
DST071 |
Distal Monosomy 19p13.3 |
12 |
647 |
|
SXC004 |
Sex Chromosome Disorder of Sex Development |
12 |
648 |
|
MND008 |
Mandibular Arteriovenous Malformation |
12 |
649 |
|
LWR017 |
Lower Limb Malformation-Hypospadias Syndrome |
12 |
650 |
|
ACH028 |
Acheiria |
12 |
651 |
c
|
SCL053 |
Sclerocornea, Autosomal Dominant |
12 |
652 |
|
PRT213 |
Partial Duplication of Chromosome 19 |
12 |
653 |
|
UNL006 |
Unilateral Focal Polymicrogyria |
12 |
654 |
|
HYP852 |
Hypocalcemic Rickets |
12 |
655 |
|
CRN194 |
Cranial Meningocele |
11 |
656 |
|
ARC022 |
Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome |
11 |
657 |
|
CNG282 |
Congenital Knee Dislocation |
11 |
658 |
|
XLN142 |
X-Linked Intellectual Disability, Stevenson Type |
11 |
659 |
|
MGC005 |
Megacystis-Megaureter Syndrome |
11 |
660 |
c
|
UNP004 |
Uniparental Disomy of Chromosome 2 |
11 |
661 |
|
TNN014 |
Tunnel Subaortic Stenosis |
11 |
662 |
|
PRT200 |
Partial Duplication of the Long Arm of Chromosome 2 |
11 |
663 |
|
SVR086 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
11 |
664 |
|
DPL010 |
Duplication of the Esophagus |
11 |
665 |
c
|
ISL040 |
Isolated Focal Cortical Dysplasia Type Ia |
11 |
666 |
|
MSC084 |
Mosaic Genome-Wide Paternal Uniparental Disomy |
11 |
667 |
c
|
ZYG005 |
Zygodactyly Type 4 |
10 |
668 |
|
ABN012 |
Abnormal Origin of Right or Left Pulmonary Artery from the Aorta |
10 |
669 |
|
PRT215 |
Partial Duplication of the Short Arm of Chromosome 2 |
10 |
670 |
|
CNG279 |
Congenital Pseudoarthrosis of the Ulna |
10 |
671 |
|
CNG277 |
Congenital Pseudoarthrosis of the Fibula |
10 |
672 |
|
ISL154 |
Isolated Exencephaly |
10 |
673 |
|
SLV018 |
Silver-Russell Syndrome Due to 11p15 Microduplication |
10 |
674 |
|
INT248 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
10 |
675 |
|
PRT204 |
Partial Duplication of the Long Arm of Chromosome 4 |
10 |
676 |
|
PRT138 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
10 |
677 |
|
LWR014 |
Lower Limb Hypertrophy |
10 |
678 |
|
PRT111 |
Partial Septate Uterus |
10 |
679 |
c
|
ATS065 |
Autosomal Dominant Coarctation of Aorta |
10 |
680 |
|
PRT144 |
Partial Deletion of Chromosome 2 |
10 |
681 |
c
|
PTR015 |
Paternal Uniparental Disomy of Chromosome X |
10 |
682 |
|
PRT160 |
Partial Deletion of the Short Arm of Chromosome 4 |
10 |
683 |
|
PRM302 |
Paramedian Facial Cleft |
10 |
684 |
c
|
PTL011 |
Patella, Familial Recurrent Dislocation of |
10 |
685 |
c
|
CHR232 |
Chromosome 21, Uniparental Disomy |
10 |
686 |
|
4P1001 |
4p16.3 Microduplication Syndrome |
10 |
687 |
c
|
ERL039 |
Early-Onset Anterior Polar Cataract |
10 |
688 |
|
DST089 |
Distal Trisomy 3p |
10 |
689 |
|
XLN147 |
X-Linked Intellectual Disability, Stoll Type |
10 |
690 |
|
MLH001 |
Melhem Fahl Syndrome |
10 |
691 |
|
MCR301 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
10 |
692 |
|
DST078 |
Distal Trisomy 6q |
10 |
693 |
c
|
PTR019 |
Paternal Uniparental Disomy of Chromosome 5 |
9 |
694 |
|
ART161 |
Aortic Malformation |
9 |
695 |
|
BLR023 |
Biliary Atresia with Splenic Malformation Syndrome |
9 |
696 |
P
|
PRT196 |
Partial Trisomy of the Long Arm of Chromosome 16 |
9 |
697 |
|
APD003 |
Apodia |
9 |
698 |
|
SYN148 |
Syndromic Aniridia |
9 |
699 |
|
PRT162 |
Partial Deletion of the Short Arm of Chromosome 6 |
9 |
700 |
|
FBL017 |
Fibular Dimelia-Diplopodia Syndrome |
9 |
701 |
c
|
CHR201 |
Chromosome 16, Uniparental Disomy |
9 |
702 |
|
PRT153 |
Partial Deletion of Chromosome 11 |
9 |
703 |
|
DGS007 |
Digestive Duplication |
9 |
704 |
|
HMR042 |
Humero-Ulnar Synostosis |
9 |
705 |
c
|
MTR064 |
Maternal Uniparental Disomy of Chromosome 22 |
9 |
706 |
c
|
UNP010 |
Uniparental Disomy of Chromosome 13 |
9 |
707 |
P
|
PRT183 |
Partial Monosomy of the Long Arm of Chromosome 10 |
9 |
708 |
|
2P2002 |
2p21 Microdeletion Syndrome Without Cystinuria |
9 |
709 |
|
PRT202 |
Partial Duplication of the Long Arm of Chromosome 6 |
9 |
710 |
|
CNG327 |
Congenital Epstein-Barr Virus Infection |
9 |
711 |
|
MLT171 |
Multiple Epiphyseal Dysplasia and Pseudoachondroplasia |
9 |
712 |
|
PRT154 |
Partial Deletion of Chromosome 18 |
9 |
713 |
|
PRT207 |
Partial Duplication of the Short Arm of Chromosome 7 |
9 |
714 |
|
DVL026 |
Developmental Defect of the Eye |
9 |
715 |
|
PRT171 |
Partial Deletion of the Short Arm of Chromosome 18 |
9 |
716 |
|
ECT107 |
Ectasia of the Left Atrial Appendage |
9 |
717 |
c
|
UNP009 |
Uniparental Disomy of Chromosome 20 |
9 |
718 |
|
OMP003 |
Omphalomesenteric Cyst |
8 |
719 |
c
|
ISC013 |
Isochromosomy Yq |
8 |
720 |
|
PRN048 |
Prenatal Benign Hypophosphatasia |
8 |
721 |
|
PRT203 |
Partial Duplication of the Long Arm of Chromosome 7 |
8 |
722 |
|
PRT241 |
Partial Deletion of the Long Arm of Chromosome 20 |
8 |
723 |
|
ISL049 |
Isolated Dandy-Walker Malformation Without Hydrocephalus |
8 |
724 |
|
PRT231 |
Partial Duplication of Chromosome 4 |
8 |
725 |
|
DGS009 |
Digestive Tract Malformation |
8 |
726 |
|
PRT166 |
Partial Deletion of the Short Arm of Chromosome 10 |
8 |
727 |
|
PRT174 |
Partial Deletion of the Long Arm of Chromosome 1 |
8 |
728 |
|
PRT181 |
Partial Deletion of the Long Arm of Chromosome 8 |
8 |
729 |
|
PRT208 |
Partial Duplication of the Short Arm of Chromosome 8 |
8 |
730 |
|
PRT239 |
Partial Deletion of the Long Arm of Chromosome 18 |
8 |
731 |
|
DST090 |
Distal Trisomy 2p |
8 |
732 |
|
DBL018 |
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis |
8 |
733 |
|
PRT230 |
Partial Duplication of Chromosome 3 |
8 |
734 |
c
|
PRT190 |
Partial Trisomy of the Long Arm of Chromosome 18 |
8 |
735 |
|
NNS055 |
Non-Syndromic Preaxial Polydactyly |
8 |
736 |
|
ISL022 |
Isolated Congenital Nasal Pyriform Aperture Stenosis |
8 |
737 |
|
ISL028 |
Isolated Cerebellar Vermis Hypoplasia |
8 |
738 |
|
PRT152 |
Partial Deletion of Chromosome 10 |
8 |
739 |
|
PRT199 |
Partial Duplication of the Long Arm of Chromosome 13 |
8 |
740 |
|
PRT238 |
Partial Deletion of the Long Arm of Chromosome 17 |
8 |
741 |
c
|
SLV015 |
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 |
8 |
742 |
|
SVR046 |
Severe Lateral Tibial Bowing with Short Stature |
8 |
743 |
|
AML037 |
Amelia of Upper Limb |
8 |
744 |
|
DST087 |
Distal Trisomy 7p |
8 |
745 |
|
CRN208 |
Coronary Sinus Atresia |
7 |
746 |
|
PRT234 |
Partial Duplication of Chromosome 7 |
7 |
747 |
|
IDP088 |
Idiopathic Isolated Micropenis |
7 |
748 |
|
MXL013 |
Maxillary Arteriovenous Malformation |
7 |
749 |
P
|
ISC012 |
Isochromosome Y |
7 |
750 |
|
DST084 |
Distal Trisomy 8q |
7 |
751 |
|
NNS059 |
Non-Syndromic Limb Reduction Defect |
7 |
752 |
|
PRT235 |
Partial Deletion of the Long Arm of Chromosome 14 |
7 |
753 |
|
ARC019 |
Arachnodactyly - Intellectual Disability - Dysmorphism |
7 |
754 |
|
UNC003 |
Unicervical Bicornuate Uterus |
7 |
755 |
|
PRT149 |
Partial Deletion of Chromosome 7 |
7 |
756 |
|
PRT175 |
Partial Deletion of the Long Arm of Chromosome 2 |
7 |
757 |
|
PRT217 |
Partial Duplication of the Short Arm of Chromosome 4 |
7 |
758 |
|
PRT223 |
Partial Duplication of Chromosome 11 |
7 |
759 |
|
TRG018 |
Trigonocephaly-Broad Thumbs Syndrome |
7 |
760 |
c
|
CNG476 |
Congenital Systemic Arteriovenous Fistula |
7 |
761 |
|
CNG287 |
Congenital Absence of Both Forearm and Hand |
7 |
762 |
|
ATR096 |
Atrioventricular Valve Anomaly |
7 |
763 |
|
PRT216 |
Partial Trisomy of Chromosome 20 |
7 |
764 |
|
DYR002 |
Dyrk1a-Related Intellectual Disability Syndrome Due to 21q22.13q22.2 Microdeletion |
7 |
765 |
|
PRT244 |
Partial Deletion of the Short Arm of Chromosome 12 |
7 |
766 |
|
CNG286 |
Congenital Absence of Thigh and Lower Leg with Foot Present |
7 |
767 |
|
CNG610 |
Congenital Hypoplasia of Thumb |
7 |
768 |
|
ISL064 |
Isolated Ankyloblepharon Filiforme Adnatum |
7 |
769 |
|
CNG107 |
Congenital Mitral Malformation |
6 |
770 |
P
|
TSS001 |
Tessier Number 5 Facial Cleft |
6 |
771 |
|
ECS003 |
Eec Syndrome and Related Disorders |
6 |
772 |
|
KRS001 |
Krauss Herman Holmes Syndrome |
6 |
773 |
|
PRT150 |
Partial Deletion of the Long Arm of Chromosome 12 |
6 |
774 |
|
PRT242 |
Partial Deletion of the Long Arm of Chromosome 21 |
6 |
775 |
|
CNG259 |
Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation |
6 |
776 |
|
INT355 |
Intercalary Limb Defects |
6 |
777 |
|
12Q001 |
12q15q21.1 Microdeletion Syndrome |
6 |
778 |
|
ISL153 |
Isolated Congenital Aglossia |
6 |
779 |
|
DST075 |
Distal Trisomy 16q |
6 |
780 |
|
LPT012 |
Leptomyelolipoma |
6 |
781 |
|
ECT057 |
Ectasia of the Right Atrial Appendage |
6 |
782 |
|
HYP850 |
Hypoglossia/aglossia |
6 |
783 |
|
ATY043 |
Atypical Norrie Disease Due to Xp11.3 Microdeletion |
6 |
784 |
|
PRT191 |
Partial Duplication of the Long Arm of Chromosome 17 |
6 |
785 |
c
|
LRY048 |
Laryngotracheoesophageal Cleft Type 0 |
6 |
786 |
|
DST088 |
Distal Trisomy 1p36 |
6 |
787 |
c
|
CHR179 |
Chromosome 1, Uniparental Disomy 1q12 Q21 |
5 |
788 |
|
CRN073 |
Coronary Arteries Congenital Malformation |
5 |
789 |
|
PRT139 |
Partial Bilateral Aplasia of the Mullerian Ducts |
5 |
790 |
|
EXT043 |
External Auditory Canal Aplasia/hypoplasia |
5 |
791 |
|
PRT141 |
Partial Deletion of Chromosome 1 |
5 |
792 |
|
PRT147 |
Partial Deletion of Chromosome 9 |
5 |
793 |
|
PRT158 |
Partial Deletion of the Short Arm of Chromosome 2 |
5 |
794 |
|
PRT168 |
Partial Deletion of the Short Arm of Chromosome 16 |
5 |
795 |
|
PRT211 |
Partial Duplication of the Short Arm of Chromosome 11 |
5 |
796 |
|
EXT047 |
Extralobar Congenital Pulmonary Sequestration |
5 |
797 |
|
RDL020 |
Radio-Ulnar Synostosis, Bilateral |
5 |
798 |
|
ACR083 |
Acrofacial Dysostosis, Kennedy-Teebi Type |
5 |
799 |
|
TRC084 |
Tricuspid Valve Agenesis |
5 |
800 |
|
DST066 |
Distal Monosomy 20q |
5 |
801 |
|
LNS008 |
Lens Position Anomaly |
5 |
802 |
|
CNG602 |
Congenital Anomaly of the Great Arteries |
5 |
803 |
|
PRS138 |
Persistent Left Superior Vena Cava Connecting to the Roof of Left-Sided Atrium |
5 |
804 |
|
PLM157 |
Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome |
5 |
805 |
|
INT285 |
Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome |
5 |
806 |
|
3Q2005 |
3q26q27 Microdeletion Syndrome |
5 |
807 |
|
SYN096 |
Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication |
5 |
808 |
|
MTP038 |
Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome |
5 |
809 |
|
ATS356 |
Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome |
5 |
810 |
|
PRT249 |
Partial Autosomal Monosomy |
5 |
811 |
c
|
PTR020 |
Paternal Uniparental Disomy of Chromosome 20 |
5 |
812 |
|
PRT195 |
Partial Duplication of the Long Arm of Chromosome 8 |
5 |
813 |
|
PRT227 |
Partial Deletion of the Long Arm of Chromosome 22 |
5 |
814 |
|
GLB027 |
Global Cerebellar Malformation |
5 |
815 |
c
|
BCK011 |
Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion |
5 |
816 |
|
SYN118 |
Syndrome with Limb Reduction Defects |
5 |
817 |
|
DST070 |
Distal Monosomy 4q |
5 |
818 |
|
DST073 |
Distal Monosomy 7p |
5 |
819 |
|
UNV004 |
Univentricular Heart with Single Atrio-Ventricular Valve |
5 |
820 |
c
|
PRD027 |
Prader-Willi Syndrome Due to Paternal 15q11q13 Deletion |
5 |
821 |
|
NNT001 |
Neonatal Infective Mastitis |
5 |
822 |
|
SYN097 |
Syndromic Urogenital Tract Malformation |
5 |
823 |
c
|
LSS020 |
Lissencephaly with Cerebellar Hypoplasia Type B |
5 |
824 |
c
|
LSS023 |
Lissencephaly with Cerebellar Hypoplasia Type C |
5 |
825 |
c
|
CHR251 |
Chromosome 5, Uniparental Disomy |
4 |
826 |
|
CLS021 |
Closed Iniencephaly |
4 |
827 |
|
SYN168 |
Syndrome with a Cerebellar Malformation As a Major Feature |
4 |
828 |
|
LWM001 |
Low Implantation of Placenta |
4 |
829 |
|
PRT142 |
Partial Deletion of Chromosome 4 |
4 |
830 |
|
PRT157 |
Partial Deletion of Chromosome 19 |
4 |
831 |
|
CNG577 |
Congenital Deformities of Limbs |
4 |
832 |
|
CNG316 |
Congenital Vertical Talus, Bilateral |
4 |
833 |
|
MCR188 |
Macrodactyly of Fingers, Unilateral |
4 |
834 |
|
MCR190 |
Macrodactyly of Toes, Unilateral |
4 |
835 |
|
CDL007 |
Caudal Regression-Sirenomelia Spectrum |
4 |
836 |
|
46X076 |
46,xx Disorder of Sex Development Induced by Maternal-Derived Androgen |
4 |
837 |
|
RSP024 |
Respiratory or Mediastinal Malformation |
4 |
838 |
|
NND007 |
Non-Distal Monosomy 12q |
4 |
839 |
|
MLT174 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome |
4 |
840 |
|
MLT175 |
Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability |
4 |
841 |
c
|
TTL014 |
Total Autosomal Monosomy |
4 |
842 |
c
|
46X062 |
46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect |
4 |
843 |
c
|
46X074 |
46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect |
4 |
844 |
|
CRD212 |
Cardiac Anomalies-Heterotaxy Syndrome |
4 |
845 |
|
NSL027 |
Nasal Dorsum Fistula |
4 |
846 |
|
PNN004 |
Pinnae Fistula or Cyst |
4 |
847 |
c
|
PRT188 |
Partial Trisomy of the Long Arm of Chromosome 20 |
4 |
848 |
|
PRT210 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 |
4 |
849 |
|
PRT220 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 |
4 |
850 |
|
ISL035 |
Isolated Amyelia |
4 |
851 |
|
ISL046 |
Isolated Bilateral Hemispheric Cerebellar Hypoplasia |
4 |
852 |
|
ISL051 |
Isolated Partial Cerebellar Vermis Agenesis |
4 |
853 |
c
|
ISL052 |
Isolated Total Cerebellar Vermis Agenesis |
4 |
854 |
|
ABN008 |
Abnormal Origin of the Pulmonary Artery |
4 |
855 |
|
CNG270 |
Congenital Primary Megaureter, Obstructed Form |
4 |
856 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
857 |
|
CNG569 |
Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature |
4 |
858 |
|
PRT247 |
Partial Duplication of the Short Arm of Chromosome 19 |
4 |
859 |
|
ISL126 |
Isolated Iridoschisis |
4 |
860 |
|
CNG331 |
Congenital Bilateral Megacalycosis |
4 |
861 |
|
DPH030 |
Diaphragmatic or Abdominal Wall Malformation |
4 |
862 |
|
DYS209 |
Dysostosis with Predominant Vertebral and Costal Involvement |
4 |
863 |
|
XLN157 |
X-Linked Intellectual Disability, Porteous Type |
4 |
864 |
|
MLP009 |
Malposition of a Coronary Ostium |
4 |
865 |
|
MCR377 |
Microblepharon-Ablephara Syndrome |
4 |
866 |
|
LNS009 |
Lens Size Anomaly |
4 |
867 |
|
MLF008 |
Malformation of the Cerebellar Hemispheres |
4 |
868 |
|
SBC038 |
Sub-Cortical Nodular Heterotopia |
4 |
869 |
|
CNG606 |
Congenital Aortic Valve Dysplasia |
4 |
870 |
|
MDN006 |
Median Cleft of the Upper Lip and Maxilla |
4 |
871 |
|
PRT233 |
Partial Duplication of Chromosome 6 |
4 |
872 |
|
SGM005 |
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia |
4 |
873 |
|
SPG003 |
Spigelian Hernia-Cryptorchidism Syndrome |
4 |
874 |
|
CNG315 |
Congenital Vertical Talus, Unilateral |
4 |
875 |
|
MCR189 |
Macrodactyly of Toes, Bilateral |
4 |
876 |
|
46X078 |
46,xx Disorder of Sex Development Induced by Androgens Excess |
4 |
877 |
c
|
PTR021 |
Paternal Uniparental Disomy of Chromosome 21 |
4 |
878 |
c
|
INT350 |
Intermediate Isolated Anorectal Malformation |
3 |
879 |
P
|
46X065 |
46,xy Disorder of Gonadal Development |
3 |
880 |
|
DYS202 |
Dysostosis with Limb Anomaly As a Major Feature |
3 |
881 |
|
DYS203 |
Dysostosis with Combined Reduction Defects of Upper and Lower Limbs |
3 |
882 |
|
OVR117 |
Overgrowth Syndrome with 2q37 Translocation |
3 |
883 |
|
CMP099 |
Complete Hemimelia |
3 |
884 |
|
SYN130 |
Syndromic Lacrimal System Disorder |
3 |
885 |
|
ART160 |
Arterial Duct Anomaly |
3 |
886 |
|
STR076 |
Straddling and/or Overriding Mitral Valve |
3 |
887 |
|
PLM119 |
Pulmonary Artery Coming from Patent Ductus Arteriosus |
3 |
888 |
|
MTR068 |
Mitral Valve Agenesis |
3 |
889 |
|
ANM025 |
Anomaly of the Mitral Subvalvular Apparatus |
3 |
890 |
|
PRR036 |
Pierre Robin Syndrome Associated with Collagen Disease |
3 |
891 |
|
PRR039 |
Pierre Robin Syndrome Associated with Branchial Archs Anomalies |
3 |
892 |
|
PRL049 |
Paralytic Facial Malformation |
3 |
893 |
P
|
YCH005 |
Y Chromosome Number Anomaly |
3 |
894 |
|
PRT214 |
Partial Trisomy/tetrasomy of Chromosome 18 |
3 |
895 |
|
CNG317 |
Congenital Genu Flexum |
3 |
896 |
|
CNG322 |
Congenital Elbow Dislocation, Unilateral |
3 |
897 |
|
ISL152 |
Isolated Congenital Hypoglossia |
3 |
898 |
|
ATS455 |
Autosomal Uniparental Disomy |
3 |
899 |
|
SXC005 |
Sex-Chromosome Number Anomaly |
3 |
900 |
|
NNS062 |
Non-Syndromic Limb Malformation |
3 |
901 |
|
NNS065 |
Non-Syndromic Diaphragmatic or Abdominal Wall Malformation |
3 |
902 |
|
SYN161 |
Syndromic Visceral Malformation |
3 |
903 |
|
NNS049 |
Non-Syndromic Uterovaginal Malformation |
3 |
904 |
|
GLP005 |
Glioependymal/ependymal Cyst |
3 |
905 |
c
|
46X067 |
46,xx Disorder of Gonadal Development |
3 |
906 |
|
ANM078 |
Anomaly of the Coronary Ostia |
3 |
907 |
|
PLM194 |
Pulmonary Artery or Pulmonary Branch Anomaly |
3 |
908 |
P
|
LGB001 |
Leg Absence Deformity Cataract |
2 |
909 |
|
NNS050 |
Non-Syndromic Urogenital Tract Malformation of Female |
2 |
910 |
|
PLY186 |
Polysomy of X Chromosome |
2 |
911 |
|
XCH003 |
X Chromosome Number Anomaly with Female Phenotype |
2 |
912 |
|
NNS053 |
Non Syndromic Limb Overgrowth |
2 |
913 |
|
PRT248 |
Partial Autosomal Trisomy/tetrasomy |
2 |
914 |
|
NNS066 |
Non-Syndromic Visceral Malformation |
2 |
915 |
|
EMB004 |
Embryonal Carcinoma |
56 |
916 |
c
|
WLM018 |
Wilms Tumor 5 |
61 |
917 |
P
|
FTL033 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
45 |
918 |
|
CHL043 |
Childhood Embryonal Testis Carcinoma |
8 |
919 |
c
|
FTL067 |
Fetal Hemoglobin Quantitative Trait Locus 6 |
28 |
920 |
P
|
CNT003 |
Central Nervous System Embryonal Carcinoma |
10 |
921 |
|
OVR050 |
Ovarian Embryonal Carcinoma |
35 |
922 |
|
CHL026 |
Childhood Ovarian Embryonal Carcinoma |
8 |
923 |
|
INT309 |
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin |
24 |
924 |
|
GRM001 |
Germ Cell and Embryonal Cancer |
29 |
925 |
c
|
FTL065 |
Fetal Hemoglobin Quantitative Trait Locus 5 |
15 |
926 |
c
|
WLM013 |
Wilms Tumor 1 |
65 |
927 |
P
|
EPN001 |
Ependymoblastoma |
44 |
928 |
c
|
WLM011 |
Wilms Tumor 6 |
37 |
929 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
29 |
930 |
c
|
WLM005 |
Wilms Tumor 2 |
28 |
931 |
c
|
WLM017 |
Wilms Tumor 4 |
19 |
932 |
c
|
WLM015 |
Wilms Tumor 3 |
18 |
933 |
c
|
ADL045 |
Adult Ependymoblastoma |
14 |
934 |
c
|
FML094 |
Familial Wilms Tumor 2 |
9 |
935 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
6 |
936 |
|
TRT001 |
Teratocarcinoma |
45 |
937 |
P
|
END039 |
Endodermal Sinus Tumor |
44 |
938 |
c
|
ADL047 |
Adult Endodermal Sinus Tumor |
8 |
939 |
P
|
LFT003 |
Left Ventricular Noncompaction |
54 |
940 |
|
FTL012 |
Fetal and Neonatal Alloimmune Thrombocytopenia |
44 |
941 |
c
|
PRS122 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
39 |
942 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
35 |
943 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
35 |
944 |
c
|
LFT017 |
Left Ventricular Noncompaction 8 |
28 |
945 |
c
|
LFT018 |
Left Ventricular Noncompaction 10 |
26 |
946 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
20 |
947 |
c
|
LFT011 |
Left Ventricular Noncompaction 2 |
18 |
948 |
c
|
FTL036 |
Fetal Hemoglobin Quantitative Trait Locus 2 |
16 |
949 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
7 |
950 |
c
|
HYD046 |
Hydatidiform Mole, Recurrent, 1 |
59 |
951 |
|
GRM005 |
Germ Cell Cancer |
47 |
952 |
|
SPR008 |
Supratentorial Primitive Neuroectodermal Tumor |
43 |
953 |
|
EMB007 |
Embryonal Sarcoma |
41 |
954 |
|
CNT115 |
Central Nervous System Embryonal Tumor |
23 |
955 |
|
HRD183 |
Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
22 |
956 |
|
HRD180 |
Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
20 |
957 |
|
FTL048 |
Fetal Lung Interstitial Tumor |
14 |
958 |
|
EMB017 |
Embryonal Tumor of Neuroepithelial Tissue |
3 |
959 |
P
|
OST002 |
Osteoporosis |
74 |
960 |
|
SCH036 |
Scheie Syndrome |
72 |
961 |
P
|
FML011 |
Familial Adenomatous Polyposis |
72 |
962 |
|
CNT097 |
Central Hypoventilation Syndrome, Congenital |
71 |
963 |
|
LPD012 |
Lipoid Congenital Adrenal Hyperplasia |
70 |
964 |
|
APR006 |
Apert Syndrome |
70 |
965 |
P
|
CRD224 |
Cardiofaciocutaneous Syndrome 1 |
70 |
966 |
P
|
JVN014 |
Juvenile Polyposis Syndrome |
68 |
967 |
P
|
ECT062 |
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
67 |
968 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
67 |
969 |
P
|
HLP001 |
Holoprosencephaly |
67 |
970 |
|
STH001 |
Saethre-Chotzen Syndrome |
67 |
971 |
P
|
MLG056 |
Malignant Hyperthermia |
67 |
972 |
c
|
FML346 |
Familial Adenomatous Polyposis 1 |
66 |
973 |
P
|
ART005 |
Arteriovenous Malformation |
65 |
974 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
65 |
975 |
P
|
HRP006 |
Herpes Simplex |
65 |
976 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
65 |
977 |
|
HJD001 |
Hajdu-Cheney Syndrome |
64 |
978 |
|
HLT001 |
Holt-Oram Syndrome |
63 |
979 |
|
NNN026 |
Noonan Syndrome with Multiple Lentigines |
62 |
980 |
|
OCC006 |
Occipital Horn Syndrome |
60 |
981 |
P
|
CMR001 |
Camurati-Engelmann Disease |
59 |
982 |
P
|
SPN309 |
Spinocerebellar Ataxia 6 |
59 |
983 |
|
MYP136 |
Myopathy, Centronuclear, X-Linked |
59 |
984 |
|
ACH043 |
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans |
59 |
985 |
c
|
SPN301 |
Spinocerebellar Ataxia 2 |
58 |
986 |
P
|
INT070 |
Intestinal Obstruction |
58 |
987 |
|
SPR004 |
Supravalvular Aortic Stenosis |
58 |
988 |
|
MYR002 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
58 |
989 |
|
BRN056 |
Bronchopulmonary Dysplasia |
57 |
990 |
|
PLM070 |
Pulmonic Stenosis |
57 |
991 |
|
CRN005 |
Craniofrontonasal Syndrome |
57 |
992 |
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
57 |
993 |
P
|
LKD017 |
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism |
57 |
994 |
c
|
HYP292 |
Hypophosphatasia, Infantile |
57 |
995 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
56 |
996 |
P
|
MTC069 |
Mitochondrial Disorders |
56 |
997 |
P
|
PSD015 |
Pseudohypoparathyroidism |
56 |
998 |
|
PPL025 |
Popliteal Pterygium Syndrome |
56 |
999 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
56 |
1000 |
|
PYC001 |
Pycnodysostosis |
56 |
1001 |
|
MCN007 |
Meconium Aspiration Syndrome |
55 |
1002 |
P
|
MRG008 |
Meier-Gorlin Syndrome 1 |
55 |
1003 |
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
1004 |
|
CNN011 |
Cenani-Lenz Syndactyly Syndrome |
55 |
1005 |
P
|
AML002 |
Amelogenesis Imperfecta |
55 |
1006 |
|
MWT001 |
Mowat-Wilson Syndrome |
54 |
1007 |
|
RST011 |
Restrictive Dermopathy, Lethal |
54 |
1008 |
c
|
AML044 |
Amelogenesis Imperfecta, Type Ig |
54 |
1009 |
c
|
RBN022 |
Robinow Syndrome, Autosomal Recessive 1 |
54 |
1010 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
53 |
1011 |
|
GST009 |
Gastroschisis |
53 |
1012 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
1013 |
c
|
OST164 |
Osteoporosis, Juvenile |
53 |
1014 |
c
|
HLP023 |
Holoprosencephaly 1 |
53 |
1015 |
P
|
PTS002 |
Ptosis |
53 |
1016 |
|
NNT012 |
Neonatal Jaundice |
53 |
1017 |
|
MLB001 |
Mulibrey Nanism |
53 |
1018 |
c
|
MCR258 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
53 |
1019 |
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
1020 |
|
CLB010 |
Coloboma of Macula |
52 |
1021 |
c
|
EPD076 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
52 |
1022 |
c
|
HYP293 |
Hypophosphatasia, Adult |
52 |
1023 |
c
|
ACH041 |
Achondrogenesis, Type Ii |
52 |
1024 |
c
|
SPN291 |
Spinocerebellar Ataxia 7 |
52 |
1025 |
c
|
LKD019 |
Leukodystrophy, Hypomyelinating, 6 |
52 |
1026 |
c
|
ANM043 |
Anemia, Congenital Dyserythropoietic, Type Ia |
52 |
1027 |
|
STV003 |
Stuve-Wiedemann Syndrome |
51 |
1028 |
|
JCK001 |
Jackson-Weiss Syndrome |
51 |
1029 |
|
WYR002 |
Weyers Acrofacial Dysostosis |
51 |
1030 |
|
NRL002 |
Neurilemmomatosis |
51 |
1031 |
|
MLL018 |
Miller-Dieker Lissencephaly Syndrome |
51 |
1032 |
c
|
BRC051 |
Brachydactyly, Type B1 |
51 |
1033 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
51 |
1034 |
P
|
OVR082 |
Overgrowth Syndrome |
50 |
1035 |
P
|
MTR003 |
Mitral Valve Stenosis |
50 |
1036 |
|
VTR016 |
Vater/vacterl Association |
50 |
1037 |
|
PLC008 |
Placenta Disease |
50 |
1038 |
P
|
ACH011 |
Achondrogenesis |
50 |
1039 |
c
|
HLP025 |
Holoprosencephaly 9 |
50 |
1040 |
P
|
OMP004 |
Omphalocele |
50 |
1041 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
50 |
1042 |
|
RNL078 |
Renal Dysplasia |
50 |
1043 |
c
|
SPN311 |
Spinocerebellar Ataxia 13 |
50 |
1044 |
c
|
FML347 |
Familial Adenomatous Polyposis 2 |
49 |
1045 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
49 |
1046 |
c
|
SPN207 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
49 |
1047 |
c
|
ANM042 |
Anemia, Congenital Dyserythropoietic, Type Ii |
49 |
1048 |
c
|
HLP024 |
Holoprosencephaly 2 |
49 |
1049 |
|
CRD002 |
Cri-Du-Chat Syndrome |
49 |
1050 |
c
|
ACH042 |
Achondrogenesis, Type Ib |
49 |
1051 |
|
47X002 |
47,xyy |
49 |
1052 |
|
ACR043 |
Acromicric Dysplasia |
49 |
1053 |
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
49 |
1054 |
P
|
CNG003 |
Congenital Dyserythropoietic Anemia |
49 |
1055 |
c
|
SPN330 |
Spondylocostal Dysostosis 5 |
49 |
1056 |
P
|
CRN231 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
49 |
1057 |
c
|
SPN106 |
Spinocerebellar Ataxia 5 |
49 |
1058 |
|
SPN405 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
49 |
1059 |
|
ACR002 |
Acrocapitofemoral Dysplasia |
48 |
1060 |
c
|
DSB006 |
Desbuquois Dysplasia 1 |
48 |
1061 |
P
|
CPL014 |
Capillary Malformation-Arteriovenous Malformation 1 |
48 |
1062 |
|
DPN005 |
Du Pan Syndrome |
48 |
1063 |
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
1064 |
|
HND004 |
Hand-Foot-Genital Syndrome |
48 |
1065 |
|
SHR044 |
Short Rib-Polydactyly Syndrome |
48 |
1066 |
P
|
MCL001 |
Mucolipidosis |
48 |
1067 |
c
|
HLP026 |
Holoprosencephaly 3 |
48 |
1068 |
|
SHR098 |
Short-Rib Thoracic Dysplasia 12 |
48 |
1069 |
|
WRS002 |
Warsaw Breakage Syndrome |
47 |
1070 |
|
ECT007 |
Ectodermal Dysplasia/skin Fragility Syndrome |
47 |
1071 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
47 |
1072 |
|
HLS003 |
Helsmoortel-Van Der Aa Syndrome |
47 |
1073 |
|
BHR002 |
Bohring-Opitz Syndrome |
47 |
1074 |
c
|
SPN105 |
Spinocerebellar Ataxia 4 |
47 |
1075 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
47 |
1076 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
47 |
1077 |
|
MTC018 |
Metachondromatosis |
47 |
1078 |
c
|
HLP016 |
Holoprosencephaly 11 |
47 |
1079 |
|
TTR011 |
Tetraploidy |
47 |
1080 |
c
|
CNG216 |
Congenital Hydrocephalus |
47 |
1081 |
P
|
KRN004 |
Kernicterus |
47 |
1082 |
|
OST062 |
Osteoarthritis with Mild Chondrodysplasia |
47 |
1083 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
47 |
1084 |
|
BRT059 |
Bartsocas-Papas Syndrome |
46 |
1085 |
|
DYG001 |
Dyggve-Melchior-Clausen Disease |
46 |
1086 |
c
|
46X082 |
46,xy Sex Reversal |
46 |
1087 |
c
|
CTR098 |
Cataract 1, Multiple Types |
46 |
1088 |
|
HYR002 |
Hoyeraal Hreidarsson Syndrome |
46 |
1089 |
c
|
ACH033 |
Achondrogenesis, Type Ia |
46 |
1090 |
c
|
SCP001 |
Sc Phocomelia Syndrome |
46 |
1091 |
c
|
LKD009 |
Leukodystrophy, Hypomyelinating, 5 |
46 |
1092 |
|
MLL011 |
Mullerian Aplasia and Hyperandrogenism |
46 |
1093 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
46 |
1094 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
45 |
1095 |
P
|
HRN001 |
Horner's Syndrome |
45 |
1096 |
|
VSD002 |
Vas Deferens, Congenital Bilateral Aplasia of |
45 |
1097 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
45 |
1098 |
c
|
SPN273 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
45 |
1099 |
|
LRN006 |
Laurin-Sandrow Syndrome |
45 |
1100 |
P
|
OCY003 |
Oocyte Maturation Defect 1 |
45 |
1101 |
c
|
SPN097 |
Spinocerebellar Ataxia 23 |
45 |
1102 |
c
|
HLP028 |
Holoprosencephaly 5 |
45 |
1103 |
c
|
SPN314 |
Spinocerebellar Ataxia 10 |
45 |
1104 |
P
|
DSR089 |
Disorders of Sexual Development |
45 |
1105 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
45 |
1106 |
c
|
RHZ014 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
45 |
1107 |
|
LNZ003 |
Lenz-Majewski Hyperostotic Dwarfism |
45 |
1108 |
|
OVR112 |
Ovarian Germ Cell Cancer |
45 |
1109 |
|
HMH004 |
Hemihyperplasia, Isolated |
45 |
1110 |
c
|
SPN305 |
Spinocerebellar Ataxia 11 |
45 |
1111 |
c
|
EPP014 |
Epiphyseal Dysplasia, Multiple, 4 |
45 |
1112 |
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
45 |
1113 |
c
|
RNL122 |
Renal Hypodysplasia/aplasia 3 |
44 |
1114 |
|
HRT030 |
Hartsfield Syndrome |
44 |
1115 |
|
LRY022 |
Laryngoonychocutaneous Syndrome |
44 |
1116 |
c
|
CHR579 |
Chiari Malformation Type Ii |
44 |
1117 |
|
PRL023 |
Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome |
44 |
1118 |
c
|
HLP029 |
Holoprosencephaly 4 |
44 |
1119 |
c
|
EPP013 |
Epiphyseal Dysplasia, Multiple, 5 |
44 |
1120 |
P
|
PLM149 |
Palmoplantar Keratoderma and Congenital Alopecia 2 |
44 |
1121 |
|
SCH030 |
Schneckenbecken Dysplasia |
44 |
1122 |
c
|
MLG147 |
Malignant Hyperthermia 1 |
43 |
1123 |
c
|
SPN261 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
43 |
1124 |
c
|
ECT058 |
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive |
43 |
1125 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
1126 |
P
|
SYN075 |
Syngnathia |
43 |
1127 |
P
|
EPT020 |
Epithelioid Hemangioendothelioma |
43 |
1128 |
|
ELS006 |
Elsahy-Waters Syndrome |
43 |
1129 |
|
FBL008 |
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly |
43 |
1130 |
|
STL007 |
Steel Syndrome |
43 |
1131 |
|
CRN212 |
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome |
43 |
1132 |
|
MCR103 |
Microtia |
43 |
1133 |
|
GNT031 |
Genitopatellar Syndrome |
42 |
1134 |
|
SPN302 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
42 |
1135 |
c
|
SPN295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
42 |
1136 |
|
PTC001 |
Potocki-Shaffer Syndrome |
42 |
1137 |
P
|
VND001 |
Vein Disease |
42 |
1138 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
42 |
1139 |
|
END059 |
Endocrine-Cerebroosteodysplasia |
42 |
1140 |
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
42 |
1141 |
|
ACR011 |
Acromesomelic Dysplasia, Maroteaux Type |
42 |
1142 |
|
TRP014 |
Triploidy |
42 |
1143 |
|
YLL001 |
Yellow Nail Syndrome |
42 |
1144 |
P
|
MLT065 |
Multicentric Osteolysis, Nodulosis, and Arthropathy |
42 |
1145 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
1146 |
P
|
ECT005 |
Ectropion |
42 |
1147 |
|
MLT084 |
Multicystic Dysplastic Kidney |
42 |
1148 |
c
|
SPN214 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
42 |
1149 |
P
|
RNG032 |
Ring Chromosome |
42 |
1150 |
|
CRY032 |
Carey-Fineman-Ziter Syndrome |
42 |
1151 |
|
BLD129 |
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
41 |
1152 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
41 |
1153 |
P
|
CHR342 |
Chiari Malformation |
41 |
1154 |
c
|
BRC052 |
Brachydactyly, Type B2 |
41 |
1155 |
|
ACR009 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
41 |
1156 |
|
VLP002 |
Valproate Embryopathy |
41 |
1157 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
41 |
1158 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
41 |
1159 |
P
|
CRN013 |
Craniodiaphyseal Dysplasia |
41 |
1160 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
41 |
1161 |
c
|
HNF003 |
Hnf1b-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
41 |
1162 |
c
|
LKD020 |
Leukodystrophy, Hypomyelinating, 10 |
41 |
1163 |
|
LCR013 |
Lacrimal Duct Defect |
41 |
1164 |
c
|
SPN304 |
Spinocerebellar Ataxia 8 |
41 |
1165 |
|
ABR009 |
Abruzzo-Erickson Syndrome |
41 |
1166 |
|
OGD001 |
Ogden Syndrome |
41 |
1167 |
c
|
SPN284 |
Spinocerebellar Ataxia 38 |
41 |
1168 |
c
|
SPN288 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
40 |
1169 |
c
|
SPN096 |
Spinocerebellar Ataxia 21 |
40 |
1170 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
40 |
1171 |
|
BRT046 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
40 |
1172 |
c
|
SPN104 |
Spinocerebellar Ataxia 34 |
40 |
1173 |
c
|
SPN290 |
Spinocerebellar Ataxia 15 |
40 |
1174 |
|
MDL009 |
Medullary Sponge Kidney |
40 |
1175 |
c
|
MLT138 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
40 |
1176 |
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
40 |
1177 |
|
CRD017 |
Cardiac Valvular Dysplasia, X-Linked |
40 |
1178 |
c
|
HLP027 |
Holoprosencephaly 7 |
40 |
1179 |
|
MJD001 |
Majeed Syndrome |
40 |
1180 |
c
|
AML057 |
Amelogenesis Imperfecta, Type Iiia |
40 |
1181 |
P
|
MCR364 |
Macrodactyly |
40 |
1182 |
c
|
LKD015 |
Leukodystrophy, Hypomyelinating, 3 |
40 |
1183 |
|
PLY100 |
Polyploidy |
40 |
1184 |
c
|
CRD163 |
Cardiofaciocutaneous Syndrome 2 |
39 |
1185 |
P
|
ECT045 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
39 |
1186 |
c
|
SPN266 |
Spinocerebellar Ataxia 35 |
39 |
1187 |
|
EKN001 |
Eiken Syndrome |
39 |
1188 |
c
|
SYN084 |
Synpolydactyly 1 |
39 |
1189 |
P
|
BRC003 |
Brachyolmia |
39 |
1190 |
P
|
ECT067 |
Ectodermal Dysplasia 4, Hair/nail Type |
39 |
1191 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
39 |
1192 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
39 |
1193 |
c
|
LKD018 |
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism |
38 |
1194 |
c
|
ANM049 |
Anemia, Congenital Dyserythropoietic, Type Ib |
38 |
1195 |
|
HLZ001 |
Holzgreve Syndrome |
38 |
1196 |
|
TRC026 |
Tracheal Disease |
38 |
1197 |
c
|
CHL142 |
Cholestasis, Intrahepatic, of Pregnancy 3 |
38 |
1198 |
|
ISL109 |
Isolated Cleft Lip |
38 |
1199 |
c
|
ANM037 |
Anemia, Congenital Dyserythropoietic, Type Iii |
37 |
1200 |
c
|
SPN258 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
37 |
1201 |
|
CLF028 |
Cleft Soft Palate |
37 |
1202 |
c
|
AML017 |
Amelogenesis Imperfecta, Type Ib |
37 |
1203 |
|
SPN391 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
37 |
1204 |
|
CHR502 |
Chromosome 17q12 Duplication Syndrome |
37 |
1205 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
1206 |
|
AML066 |
Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome |
37 |
1207 |
c
|
LKD023 |
Leukodystrophy, Hypomyelinating, 12 |
37 |
1208 |
|
ANT057 |
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis |
37 |
1209 |
c
|
ECT072 |
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant |
37 |
1210 |
|
ACR016 |
Acromesomelic Dysplasia |
37 |
1211 |
c
|
ANM048 |
Anemia, Congenital Dyserythropoietic, Type Iv |
37 |
1212 |
c
|
ATS282 |
Autosomal Recessive Malignant Osteopetrosis |
37 |
1213 |
c
|
LKD021 |
Leukodystrophy, Hypomyelinating, 11 |
37 |
1214 |
|
PLC006 |
Placental Choriocarcinoma |
36 |
1215 |
c
|
STC013 |
Stickler Syndrome, Type Ii |
36 |
1216 |
|
GRN034 |
Grange Syndrome |
36 |
1217 |
|
CHR346 |
Chromosome 22q11.2 Deletion Syndrome, Distal |
36 |
1218 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
36 |
1219 |
|
GST052 |
Gestational Choriocarcinoma |
36 |
1220 |
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
36 |
1221 |
|
DYS045 |
Dysosteosclerosis |
36 |
1222 |
c
|
SPN283 |
Spinocerebellar Ataxia 37 |
36 |
1223 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
36 |
1224 |
c
|
RBN008 |
Rubinstein-Taybi Syndrome 2 |
36 |
1225 |
c
|
AML061 |
Amelogenesis Imperfecta, Type Ie |
36 |
1226 |
|
NNT004 |
Neonatal Respiratory Failure |
36 |
1227 |
P
|
MTP001 |
Metaphyseal Dysplasia |
36 |
1228 |
c
|
RHZ015 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
35 |
1229 |
c
|
CRD164 |
Cardiofaciocutaneous Syndrome 3 |
35 |
1230 |
|
HMM005 |
Hemimelia |
35 |
1231 |
c
|
WLL037 |
Weill-Marchesani Syndrome 2 |
35 |
1232 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
35 |
1233 |
c
|
ECT041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
35 |
1234 |
c
|
SPN381 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
35 |
1235 |
c
|
CRD167 |
Cardiofaciocutaneous Syndrome 4 |
35 |
1236 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
35 |
1237 |
c
|
OMD001 |
Omodysplasia 1 |
35 |
1238 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
35 |
1239 |
|
ULN017 |
Ulna and Fibula, Absence of, with Severe Limb Deficiency |
35 |
1240 |
|
ALZ030 |
Alazami Syndrome |
35 |
1241 |
c
|
AML047 |
Amelogenesis Imperfecta, Type Ia |
35 |
1242 |
|
TTH004 |
Tethered Spinal Cord Syndrome |
35 |
1243 |
|
PRP093 |
Pierpont Syndrome |
35 |
1244 |
c
|
LKD016 |
Leukodystrophy, Hypomyelinating, 9 |
35 |
1245 |
c
|
CRN146 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
35 |
1246 |
c
|
46X057 |
46,xy Sex Reversal 8 |
35 |
1247 |
|
RFM001 |
Roifman Syndrome |
35 |
1248 |
c
|
SPN377 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
35 |
1249 |
P
|
ENT005 |
Entropion |
34 |
1250 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
34 |
1251 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
34 |
1252 |
c
|
RNG004 |
Ring Chromosome 1 |
34 |
1253 |
|
HYP351 |
Hypertrichosis Universalis Congenita, Ambras Type |
34 |
1254 |
|
OSB001 |
Osebold-Remondini Syndrome |
34 |
1255 |
|
ATY022 |
Atypical Coarctation of Aorta |
34 |
1256 |
|
DYS048 |
Dysplasia Epiphysealis Hemimelica |
34 |
1257 |
c
|
KNN009 |
Kenny-Caffey Syndrome, Type 1 |
34 |
1258 |
P
|
KYP005 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
34 |
1259 |
c
|
AML050 |
Amelogenesis Imperfecta, Type if |
34 |
1260 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
34 |
1261 |
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
34 |
1262 |
|
PST063 |
Postsynaptic Congenital Myasthenic Syndromes |
34 |
1263 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
34 |
1264 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
33 |
1265 |
|
MCR025 |
Microhydranencephaly |
33 |
1266 |
c
|
SPN200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
33 |
1267 |
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
33 |
1268 |
|
CHR225 |
Chromosome 1q21.1 Duplication Syndrome |
33 |
1269 |
c
|
ATL012 |
Atelosteogenesis, Type Iii |
33 |
1270 |
|
CYS021 |
Cystic Adenomatoid Malformation of Lung |
33 |
1271 |
|
MSC020 |
Mosaic Trisomy 8 |
33 |
1272 |
|
OTD001 |
Otodental Dysplasia |
33 |
1273 |
c
|
BNM018 |
Bone Mineral Density Quantitative Trait Locus 3 |
33 |
1274 |
c
|
MRG009 |
Meier-Gorlin Syndrome 2 |
33 |
1275 |
|
CHR581 |
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb |
32 |
1276 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
32 |
1277 |
|
MYP038 |
Myopathy, Congenital, Compton-North |
32 |
1278 |
P
|
DSB002 |
Desbuquois Dysplasia |
32 |
1279 |
|
SPN154 |
Spondyloperipheral Dysplasia |
32 |
1280 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
32 |
1281 |
|
FMR018 |
Femoral-Facial Syndrome |
32 |
1282 |
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
32 |
1283 |
c
|
FML084 |
Familial Porencephaly |
32 |
1284 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
32 |
1285 |
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
32 |
1286 |
c
|
ECT065 |
Ectodermal Dysplasia 7, Hair/nail Type |
31 |
1287 |
c
|
DSB005 |
Desbuquois Dysplasia 2 |
31 |
1288 |
|
ACR017 |
Acrofacial Dysostosis |
31 |
1289 |
c
|
SPN094 |
Spinocerebellar Ataxia 18 |
31 |
1290 |
c
|
JVN034 |
Juvenile Polyposis of Infancy |
31 |
1291 |
c
|
RNG029 |
Ring Chromosome 14 Syndrome |
31 |
1292 |
c
|
PSD104 |
Pseudohypoparathyroidism, Type Ii |
31 |
1293 |
c
|
ECT066 |
Ectodermal Dysplasia 9, Hair/nail Type |
31 |
1294 |
|
ANM001 |
Anemia of Prematurity |
31 |
1295 |
c
|
SPN292 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
31 |
1296 |
|
CLF044 |
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly |
31 |
1297 |
c
|
CPL015 |
Capillary Malformation-Arteriovenous Malformation 2 |
31 |
1298 |
|
ATY016 |
Atypical Werner Syndrome |
31 |
1299 |
|
CBB005 |
Cobblestone Lissencephaly |
31 |
1300 |
|
OPT058 |
Optic Disc Anomalies with Retinal and/or Macular Dystrophy |
31 |
1301 |
|
EPP022 |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness |
31 |
1302 |
P
|
CHR084 |
Chromosomal Disease |
30 |
1303 |
|
MCR354 |
Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures |
30 |
1304 |
|
WRF003 |
Warfarin Syndrome |
30 |
1305 |
|
TTR014 |
Tetrasomy 18p |
30 |
1306 |
|
SPN352 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
30 |
1307 |
P
|
ATS382 |
Autosomal Dominant Tubulointerstitial Kidney Disease |
30 |
1308 |
|
SPR031 |
Sprengel Deformity |
30 |
1309 |
|
MTR087 |
Maternal Uniparental Disomy |
30 |
1310 |
c
|
HYP723 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 |
30 |
1311 |
|
TTR012 |
Tetrasomy 9p |
30 |
1312 |
c
|
MRG010 |
Meier-Gorlin Syndrome 3 |
30 |
1313 |
|
EPD072 |
Epidermolysis Bullosa Dystrophica, Pretibial |
30 |
1314 |
|
CLF049 |
Cleft Lip and Alveolus |
30 |
1315 |
|
JBR032 |
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy |
30 |
1316 |
|
PLM013 |
Pulmonary Immaturity |
30 |
1317 |
P
|
HYP714 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
30 |
1318 |
c
|
CRN303 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
29 |
1319 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
29 |
1320 |
c
|
BNM015 |
Bone Mineral Density Quantitative Trait Locus 18 |
29 |
1321 |
|
12Q002 |
12q14 Microdeletion Syndrome |
29 |
1322 |
P
|
PRC050 |
Pericardium Disease |
29 |
1323 |
c
|
AML018 |
Amelogenesis Imperfecta, Type Ic |
29 |
1324 |
|
FTL007 |
Fetal Hydantoin Syndrome |
29 |
1325 |
c
|
FML339 |
Familial Adenomatous Polyposis 4 |
29 |
1326 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
29 |
1327 |
|
HYP364 |
Hyperostosis Frontalis Interna |
29 |
1328 |
|
RHM015 |
Rhombencephalosynapsis |
29 |
1329 |
|
PLM059 |
Pulmonary Atresia with Ventricular Septal Defect |
29 |
1330 |
c
|
SPN098 |
Spinocerebellar Ataxia 25 |
29 |
1331 |
|
CHR270 |
Chromosome 9p Duplication |
29 |
1332 |
|
PYR025 |
Pyruvate Dehydrogenase E2 Deficiency |
29 |
1333 |
|
DFN039 |
Deafness-Infertility Syndrome |
29 |
1334 |
|
WLL012 |
Williams-Beuren Region Duplication Syndrome |
29 |
1335 |
c
|
HYP698 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
29 |
1336 |
|
FRS007 |
Frias Syndrome |
29 |
1337 |
c
|
MRG016 |
Meier-Gorlin Syndrome 8 |
28 |
1338 |
|
PSD046 |
Pseudotrisomy 13 Syndrome |
28 |
1339 |
|
LYM122 |
Lymphangiectasia, Pulmonary, Congenital |
28 |
1340 |
|
49X001 |
49, Xxxxx |
28 |
1341 |
c
|
RNG022 |
Ring Chromosome 6 |
28 |
1342 |
|
MSM004 |
Mesomelia-Synostoses Syndrome |
28 |
1343 |
|
PRX085 |
Preaxial Hallucal Polydactyly |
28 |
1344 |
c
|
MLG151 |
Malignant Hyperthermia 5 |
28 |
1345 |
P
|
CRN249 |
Cornea Plana |
28 |
1346 |
|
UNV002 |
Univentricular Heart |
28 |
1347 |
|
NSP016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
28 |
1348 |
|
NBL001 |
Nablus Mask-Like Facial Syndrome |
28 |
1349 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
28 |
1350 |
c
|
FML299 |
Familial Adenomatous Polyposis 3 |
28 |
1351 |
|
16Q001 |
16q24.3 Microdeletion Syndrome |
28 |
1352 |
c
|
SPN313 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
28 |
1353 |
c
|
SPN298 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
28 |
1354 |
|
HYP561 |
Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness |
28 |
1355 |
|
CLF048 |
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features |
28 |
1356 |
|
ACR102 |
Acrorenal-Mandibular Syndrome |
28 |
1357 |
c
|
SPN431 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
27 |
1358 |
c
|
SPN427 |
Spinocerebellar Ataxia 48 |
27 |
1359 |
c
|
CLR135 |
Ciliary Dyskinesia, Primary, 7 |
27 |
1360 |
|
CNG506 |
Congenital Amyoplasia |
27 |
1361 |
|
BRN055 |
Bronchogenic Cyst |
27 |
1362 |
c
|
MRG011 |
Meier-Gorlin Syndrome 4 |
27 |
1363 |
|
CBB002 |
Cobb Syndrome |
27 |
1364 |
|
CHR190 |
Chromosome 12p Duplication |
27 |
1365 |
|
NRD028 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies |
27 |
1366 |
c
|
ECT068 |
Ectodermal Dysplasia 6, Hair/nail Type |
27 |
1367 |
|
SPN358 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
27 |
1368 |
|
KPS005 |
Kaposiform Lymphangiomatosis |
27 |
1369 |
|
YNH001 |
Yuan-Harel-Lupski Syndrome |
27 |
1370 |
c
|
RNG010 |
Ring Chromosome 15 |
27 |
1371 |
|
CHR209 |
Chromosome 17p Duplication |
27 |
1372 |
|
NNN033 |
Noonan Syndrome and Noonan-Related Syndrome |
27 |
1373 |
c
|
RNG016 |
Ring Chromosome 20 |
27 |
1374 |
|
DPH012 |
Diphallia |
27 |
1375 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
27 |
1376 |
|
SHR103 |
Short Stature, Developmental Delay, and Congenital Heart Defects |
27 |
1377 |
|
XLN235 |
X-Linked Intellectual Disability with Marfanoid Habitus |
27 |
1378 |
c
|
ECT064 |
Ectodermal Dysplasia 5, Hair/nail Type |
27 |
1379 |
|
HRY005 |
Hairy Elbows |
27 |
1380 |
|
FCL078 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs |
26 |
1381 |
P
|
RNL123 |
Renal Agenesis, Bilateral |
26 |
1382 |
c
|
ORF041 |
Orofaciodigital Syndrome X |
26 |
1383 |
c
|
RNG024 |
Ring Chromosome 8 |
26 |
1384 |
|
KPR002 |
Kapur-Toriello Syndrome |
26 |
1385 |
|
CHR457 |
Chromosome 17p13.1 Deletion Syndrome |
26 |
1386 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
26 |
1387 |
|
MCR302 |
Macrostomia, Isolated |
26 |
1388 |
c
|
ATS312 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related |
26 |
1389 |
|
CHR498 |
Chromosome 16p11.2 Duplication Syndrome |
26 |
1390 |
P
|
PLM069 |
Pulmonary Venous Return Anomaly |
26 |
1391 |
c
|
MLG145 |
Malignant Epithelioid Hemangioendothelioma |
26 |
1392 |
|
WSM003 |
Weismann-Netter Syndrome |
26 |
1393 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
26 |
1394 |
c
|
PK3004 |
Pik3ca-Related Overgrowth Spectrum |
26 |
1395 |
|
CHR248 |
Chromosome 4p Duplication |
26 |
1396 |
c
|
CRN220 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
26 |
1397 |
|
SPN415 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
26 |
1398 |
|
LBN004 |
Liebenberg Syndrome |
26 |
1399 |
|
THR101 |
Thrombocytopenia, Paris-Trousseau Type |
26 |
1400 |
|
CHR393 |
Chromosome 19p13.13 Deletion Syndrome |
26 |
1401 |
|
PNS015 |
Penoscrotal Transposition |
26 |
1402 |
P
|
OTP008 |
Otopalatodigital Syndrome Spectrum Disorder |
26 |
1403 |
|
SPS207 |
Spastic Paraplegia and Psychomotor Retardation with or Without Seizures |
26 |
1404 |
c
|
SPN420 |
Spinocerebellar Ataxia 46 |
26 |
1405 |
c
|
LKD031 |
Leukodystrophy, Hypomyelinating, 18 |
26 |
1406 |
c
|
BSL030 |
Basal Encephalocele |
26 |
1407 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
25 |
1408 |
|
URC005 |
Urachal Cyst |
25 |
1409 |
|
NNG002 |
Non-Gestational Ovarian Choriocarcinoma |
25 |
1410 |
c
|
CTR182 |
Cataract 23, Multiple Types |
25 |
1411 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
25 |
1412 |
|
CLN022 |
Colonic Atresia |
25 |
1413 |
|
ACR039 |
Acromegaloid Hypertrichosis Syndrome |
25 |
1414 |
|
FCL047 |
Facial Clefting, Oblique, 1 |
25 |
1415 |
c
|
FCL046 |
Focal Facial Dermal Dysplasia 4 |
25 |
1416 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
25 |
1417 |
|
NNG001 |
Non-Gestational Choriocarcinoma |
25 |
1418 |
|
HGH023 |
High Bone Mass Osteogenesis Imperfecta |
25 |
1419 |
|
CHR266 |
Chromosome 8p23.1 Deletion |
25 |
1420 |
|
CHR366 |
Chromosome 5p13 Duplication Syndrome |
25 |
1421 |
c
|
CTR116 |
Cataract 15, Multiple Types |
25 |
1422 |
c
|
MRG015 |
Meier-Gorlin Syndrome 7 |
25 |
1423 |
c
|
MCK028 |
Meckel Syndrome 13 |
25 |
1424 |
c
|
MRG012 |
Meier-Gorlin Syndrome 5 |
25 |
1425 |
c
|
MRG014 |
Meier-Gorlin Syndrome 6 |
25 |
1426 |
c
|
CTR105 |
Cataract 12, Multiple Types |
25 |
1427 |
|
MCR253 |
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or Without Secondary Glaucoma |
25 |
1428 |
|
CRB165 |
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation |
25 |
1429 |
|
DPL009 |
Duplication of the Pituitary Gland |
24 |
1430 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
24 |
1431 |
c
|
MLG148 |
Malignant Hyperthermia 2 |
24 |
1432 |
c
|
HYP831 |
Hyperparathyroidism, Transient Neonatal |
24 |
1433 |
|
CGN001 |
Cogan-Reese Syndrome |
24 |
1434 |
|
STN006 |
Steinfeld Syndrome |
24 |
1435 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
24 |
1436 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
1437 |
c
|
BNM016 |
Bone Mineral Density Quantitative Trait Locus 1 |
24 |
1438 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
24 |
1439 |
c
|
RNG013 |
Ring Chromosome 18 |
24 |
1440 |
|
CHR159 |
Charlie M Syndrome |
24 |
1441 |
|
RDL039 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
24 |
1442 |
c
|
LKD022 |
Leukodystrophy, Hypomyelinating, 13 |
24 |
1443 |
|
SCH055 |
Schilbach-Rott Syndrome |
24 |
1444 |
P
|
PHC014 |
Phocomelia |
24 |
1445 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
24 |
1446 |
|
LLS001 |
Lelis Syndrome |
24 |
1447 |
|
HRT018 |
Heart-Hand Syndrome, Slovenian Type |
23 |
1448 |
|
OCL070 |
Oculopalatocerebral Syndrome |
23 |
1449 |
c
|
SPN372 |
Spinocerebellar Ataxia 43 |
23 |
1450 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
23 |
1451 |
c
|
SPN323 |
Spinocerebellar Ataxia 41 |
23 |
1452 |
c
|
CRN306 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
23 |
1453 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
23 |
1454 |
|
BLP009 |
Blepharonasofacial Malformation Syndrome |
23 |
1455 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
23 |
1456 |
c
|
CNG100 |
Congenital Herpes Simplex |
23 |
1457 |
c
|
DKP001 |
Dk Phocomelia Syndrome |
23 |
1458 |
|
FMR017 |
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly |
23 |
1459 |
c
|
SPN384 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
23 |
1460 |
|
CHN050 |
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia |
23 |
1461 |
|
PRP090 |
Peripheral Dysostosis |
23 |
1462 |
c
|
CTR136 |
Cataract 41 |
23 |
1463 |
|
OST117 |
Osteomesopyknosis |
23 |
1464 |
|
CRN104 |
Craniotelencephalic Dysplasia |
23 |
1465 |
|
PTR034 |
Paternal Uniparental Disomy |
23 |
1466 |
|
TTR019 |
Tetrasomy 5p |
23 |
1467 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
23 |
1468 |
c
|
RNG021 |
Ring Chromosome 5 |
23 |
1469 |
c
|
LKD030 |
Leukodystrophy, Hypomyelinating, 17 |
23 |
1470 |
|
CRS011 |
Criss-Cross Heart |
23 |
1471 |
|
SPL057 |
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects |
23 |
1472 |
P
|
ERL043 |
Early-Onset Nuclear Cataract |
23 |
1473 |
|
HML054 |
Hemolytic Disease Due to Fetomaternal Alloimmunization |
22 |
1474 |
|
FCL067 |
Focal Facial Dermal Dysplasia 1, Brauer Type |
22 |
1475 |
|
8P2002 |
8p23.1 Duplication Syndrome |
22 |
1476 |
c
|
JVN025 |
Juvenile Primary Osteoporosis |
22 |
1477 |
|
INT095 |
Internal Carotid Agenesis |
22 |
1478 |
|
PTL010 |
Patella Aplasia-Hypoplasia |
22 |
1479 |
|
DPR014 |
Diprosopus |
22 |
1480 |
|
MTC100 |
Metacarpal 4-5 Fusion |
22 |
1481 |
|
LNG101 |
Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome |
22 |
1482 |
c
|
AML048 |
Amelogenesis Imperfecta, Type Ih |
22 |
1483 |
c
|
HLP022 |
Holoprosencephaly 8 |
22 |
1484 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
22 |
1485 |
c
|
MLG149 |
Malignant Hyperthermia 3 |
22 |
1486 |
|
ATR017 |
Atrial Septal Defect Coronary Sinus |
22 |
1487 |
|
ACR107 |
Acrofacial Dysostosis, Palagonia Type |
22 |
1488 |
|
LRY028 |
Laryngocele |
22 |
1489 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
22 |
1490 |
c
|
RNG019 |
Ring Chromosome 3 |
22 |
1491 |
|
CHN040 |
Choanal Atresia and Lymphedema |
22 |
1492 |
|
CHR241 |
Chromosome 2q24 Microdeletion Syndrome |
22 |
1493 |
|
6QT002 |
6q Terminal Deletion Syndrome |
21 |
1494 |
c
|
OCY004 |
Oocyte Maturation Defect 3 |
21 |
1495 |
c
|
PLD003 |
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
21 |
1496 |
c
|
HRN024 |
Horner Syndrome, Congenital |
21 |
1497 |
|
CLR127 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
21 |
1498 |
c
|
BNM030 |
Bone Mineral Density Quantitative Trait Locus 16 |
21 |
1499 |
c
|
BRC053 |
Brachyolmia Type 2 |
21 |
1500 |
|
SPN228 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
21 |
1501 |
P
|
PTR018 |
Paternal Uniparental Disomy of Chromosome 6 |
21 |
1502 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
21 |
1503 |
c
|
HLP021 |
Holoprosencephaly 6 |
21 |
1504 |
c
|
MLG150 |
Malignant Hyperthermia 4 |
21 |
1505 |
|
ILL003 |
Illum Syndrome |
21 |
1506 |
|
13Q001 |
13q12.3 Microdeletion Syndrome |
21 |
1507 |
c
|
CCK004 |
Cockayne Syndrome Type Iii |
21 |
1508 |
|
CRB062 |
Cerebellar Hypoplasia with Endosteal Sclerosis |
21 |
1509 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
21 |
1510 |
|
MND027 |
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia |
21 |
1511 |
|
LYM123 |
Lymphedema-Hypoparathyroidism Syndrome |
21 |
1512 |
|
EXT062 |
Extracranial Carotid Artery Aneurysm |
21 |
1513 |
c
|
CMR006 |
Camurati-Engelmann Disease, Type 2 |
21 |
1514 |
|
TBL030 |
Tibial Aplasia-Ectrodactyly Syndrome |
21 |
1515 |
c
|
ATS254 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
21 |
1516 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
21 |
1517 |
c
|
ATS310 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related |
21 |
1518 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
21 |
1519 |
|
FTL018 |
Fetal Indomethacin Syndrome |
20 |
1520 |
|
SPS188 |
Spastic Paraplegia-Paget Disease of Bone Syndrome |
20 |
1521 |
P
|
SPN237 |
Spina Bifida Aperta |
20 |
1522 |
|
IST006 |
Isotretinoin Syndrome |
20 |
1523 |
|
THY106 |
Thyroglossal Duct Cyst, Familial |
20 |
1524 |
|
PRT131 |
Partial Trisomy Distal 4q |
20 |
1525 |
|
DRM042 |
Dermatoosteolysis, Kirghizian Type |
20 |
1526 |
|
CMP039 |
Camptodactyly 1 |
20 |
1527 |
|
ALR004 |
Alar Cleft, Isolated |
20 |
1528 |
|
MTR027 |
Mitral Atresia |
20 |
1529 |
|
OCL071 |
Oculocerebral Hypopigmentation Syndrome of Preus |
20 |
1530 |
|
VNF001 |
Vein of Galen Aneurysm |
20 |
1531 |
|
FCL068 |
Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome |
20 |
1532 |
|
CHR416 |
Chromosome 17q Deletion |
20 |
1533 |
|
ATR053 |
Atresia of Urethra |
20 |
1534 |
c
|
46X011 |
46, Xy Disorders of Sexual Development |
20 |
1535 |
|
ART162 |
Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum |
20 |
1536 |
|
CRN311 |
Coronary Ostial Stenosis or Atresia |
20 |
1537 |
c
|
OMP009 |
Omphalocele, Autosomal |
20 |
1538 |
|
RTH002 |
Rutherfurd Syndrome |
20 |
1539 |
|
MZB001 |
Mazabraud Syndrome |
20 |
1540 |
c
|
CMP071 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
20 |
1541 |
|
TRC114 |
Trichodental Dysplasia |
20 |
1542 |
c
|
RNG025 |
Ring Chromosome 9 |
20 |
1543 |
|
PRM334 |
Primary Bone Dysplasia with Increased Bone Density |
20 |
1544 |
|
DST059 |
Distal Trisomy 17q |
20 |
1545 |
c
|
OCY002 |
Oocyte Maturation Defect 2 |
20 |
1546 |
|
PRG122 |
Prognathism, Mandibular |
20 |
1547 |
|
FCD002 |
Faciodigitogenital Syndrome, Autosomal Recessive |
19 |
1548 |
|
MSC017 |
Mosaic Trisomy 22 |
19 |
1549 |
P
|
CHR200 |
Chromosome 16 Trisomy |
19 |
1550 |
|
CHR612 |
Chromosome 15q14 Deletion Syndrome |
19 |
1551 |
|
ODN020 |
Odontoma-Dysphagia Syndrome |
19 |
1552 |
|
ECT069 |
Ectodermal Dysplasia 8, Hair/tooth/nail Type |
19 |
1553 |
c
|
AML064 |
Amelogenesis Imperfecta, Type Iiic |
19 |
1554 |
|
HLP020 |
Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence |
19 |
1555 |
|
FCL066 |
Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type |
19 |
1556 |
|
PSD103 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies |
19 |
1557 |
|
PRR029 |
Pierre Robin Syndrome and Oligodactyly |
19 |
1558 |
c
|
OCY005 |
Oocyte Maturation Defect 4 |
19 |
1559 |
|
CNT104 |
Contractures, Congenital, Torticollis, and Malignant Hyperthermia |
19 |
1560 |
c
|
MLG152 |
Malignant Hyperthermia 6 |
19 |
1561 |
|
1Q4001 |
1q44 Microdeletion Syndrome |
19 |
1562 |
|
HYD021 |
Hydrocephalus Obesity Hypogonadism |
19 |
1563 |
|
AML012 |
Ameloonychohypohidrotic Syndrome |
19 |
1564 |
|
DBL007 |
Double Outlet Left Ventricle |
19 |
1565 |
c
|
CHR227 |
Chromosome 20 Trisomy |
19 |
1566 |
|
16P004 |
16p13.11 Microduplication Syndrome |
19 |
1567 |
|
16P003 |
16p13.11 Microdeletion Syndrome |
19 |
1568 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
1569 |
|
VRR008 |
Verrucous Hemangioma |
19 |
1570 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
19 |
1571 |
|
CRV062 |
Cervical Spina Bifida Cystica |
19 |
1572 |
|
HMF007 |
Hemifacial Hyperplasia with Strabismus |
18 |
1573 |
|
EDN001 |
Edinburgh Malformation Syndrome |
18 |
1574 |
|
GTR012 |
Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies |
18 |
1575 |
|
STT008 |
Steatocystoma Multiplex with Natal Teeth |
18 |
1576 |
|
SPC024 |
Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease |
18 |
1577 |
|
PYK001 |
Pyknoachondrogenesis |
18 |
1578 |
|
RDL030 |
Radial-Renal Syndrome |
18 |
1579 |
|
SND006 |
Sonoda Syndrome |
18 |
1580 |
|
UNL014 |
Unilateral Multicystic Dysplastic Kidney |
18 |
1581 |
c
|
OCY007 |
Oocyte Maturation Defect 6 |
18 |
1582 |
|
17Q012 |
17q24.2 Microdeletion Syndrome |
18 |
1583 |
|
HMR016 |
Humeroradioulnar Synostosis |
18 |
1584 |
|
MCR317 |
Macrophthalmia, Colobomatous, with Microcornea |
18 |
1585 |
|
ANR043 |
Aniridia and Absent Patella |
18 |
1586 |
c
|
ATS311 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related |
18 |
1587 |
|
CNG347 |
Congenital Tricuspid Stenosis |
18 |
1588 |
c
|
HYD067 |
Hydatidiform Mole, Recurrent, 3 |
18 |
1589 |
|
MCR303 |
Macrosomia with Microphthalmia, Lethal |
18 |
1590 |
|
MTH070 |
Methimazole Antenatal Exposure |
17 |
1591 |
|
DFN307 |
Deafness-Oligodontia Syndrome |
17 |
1592 |
|
7P2001 |
7p22.1 Microduplication Syndrome |
17 |
1593 |
c
|
LKD032 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
17 |
1594 |
c
|
PTS018 |
Ptosis, Hereditary Congenital 1 |
17 |
1595 |
|
TBL027 |
Tubulinopathy-Associated Dysgyria |
17 |
1596 |
c
|
PRG096 |
Pregnancy Loss, Recurrent 2 |
17 |
1597 |
|
NDL022 |
Nodular Neuronal Heterotopia |
17 |
1598 |
c
|
PRG093 |
Pregnancy Loss, Recurrent 3 |
17 |
1599 |
P
|
ATS469 |
Autosomal Monosomy |
17 |
1600 |
|
PLY134 |
Polydactyly, Postaxial, with Dental and Vertebral Anomalies |
17 |
1601 |
c
|
TTL008 |
Total Spina Bifida Cystica |
17 |
1602 |
|
DBL010 |
Double-Orifice Mitral Valve |
17 |
1603 |
|
CRN192 |
Craniorhiny |
17 |
1604 |
c
|
OCY006 |
Oocyte Maturation Defect 5 |
17 |
1605 |
|
ACR078 |
Acral Self-Healing Collodion Baby |
17 |
1606 |
|
MSC079 |
Mosaic Trisomy 1 |
17 |
1607 |
|
HND012 |
Handigodu Joint Disease |
17 |
1608 |
|
BKS002 |
Book Syndrome |
17 |
1609 |
|
SPS196 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
17 |
1610 |
|
TRN017 |
Transient Neonatal Neutropenia |
17 |
1611 |
|
ENC043 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
17 |
1612 |
|
HML049 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities |
17 |
1613 |
|
DSL002 |
Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism |
17 |
1614 |
|
PTN011 |
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies |
17 |
1615 |
|
BRC095 |
Brachydactyly, Mononen Type |
17 |
1616 |
|
CMP073 |
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia |
17 |
1617 |
|
XP2001 |
Xp22.3 Microdeletion Syndrome |
17 |
1618 |
c
|
BNM031 |
Bone Mineral Density Quantitative Trait Locus 17 |
17 |
1619 |
|
GNC010 |
Genochondromatosis |
17 |
1620 |
|
RTF001 |
Retiform Hemangioendothelioma |
17 |
1621 |
|
TRG007 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet |
17 |
1622 |
|
THM021 |
Thumb Deformity and Alopecia |
17 |
1623 |
|
LSS034 |
Lissencephaly Type Iii and Bone Dysplasia |
16 |
1624 |
P
|
CNG600 |
Congenital Arteriovenous Fistula |
16 |
1625 |
c
|
RNG014 |
Ring Chromosome 19 |
16 |
1626 |
|
CLB018 |
Coloboma of Eyelid |
16 |
1627 |
c
|
SPN111 |
Spinocerebellar Ataxia Autosomal Recessive 5 |
16 |
1628 |
c
|
RNG011 |
Ring Chromosome 16 |
16 |
1629 |
c
|
CNG433 |
Congenital Cornea Plana |
16 |
1630 |
c
|
SPN440 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
16 |
1631 |
|
EPP005 |
Epiphyseal Dysplasia Hearing Loss Dysmorphism |
16 |
1632 |
|
NND006 |
Non-Distal Monosomy 20q |
16 |
1633 |
|
TLP002 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals |
16 |
1634 |
|
UMB001 |
Umbilical Cord Ulceration and Intestinal Atresia |
16 |
1635 |
|
CMM018 |
Common Mesentery |
16 |
1636 |
c
|
NNS019 |
Nonsyndromic Holoprosencephaly |
16 |
1637 |
|
MLT147 |
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull |
16 |
1638 |
|
HRS037 |
Hirschsprung Disease with Type D Brachydactyly |
16 |
1639 |
|
CLF034 |
Cleft Hard Palate |
16 |
1640 |
|
VLF001 |
Velofacioskeletal Syndrome |
16 |
1641 |
|
8Q1001 |
8q12 Microduplication Syndrome |
16 |
1642 |
|
LNG102 |
Long-Thumb Brachydactyly Syndrome |
16 |
1643 |
|
FRS011 |
First Branchial Cleft Anomaly |
16 |
1644 |
c
|
PTR011 |
Paternal Uniparental Disomy of Chromosome 1 |
16 |
1645 |
|
ISL118 |
Isolated Tracheoesophageal Fistula |
16 |
1646 |
|
CMP077 |
Composite Hemangioendothelioma |
16 |
1647 |
|
CNT114 |
Central Nervous System Malformation |
16 |
1648 |
|
ERL040 |
Early-Onset Sutural Cataract |
16 |
1649 |
|
ECT091 |
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type |
16 |
1650 |
|
DDL001 |
Didelphys Uterus |
16 |
1651 |
|
BWN005 |
Bowing of Long Bones Congenital |
16 |
1652 |
c
|
AML056 |
Amelogenesis Imperfecta, Type Iiib |
16 |
1653 |
|
PLY132 |
Polysyndactyly, Crossed |
16 |
1654 |
c
|
OCY008 |
Oocyte Maturation Defect 7 |
16 |
1655 |
|
ECT087 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
16 |
1656 |
|
HYP727 |
Hypoglossia with Situs Inversus |
16 |
1657 |
|
ATR084 |
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects |
16 |
1658 |
|
DST035 |
Distal Trisomy 18q |
16 |
1659 |
|
TRN013 |
Transient Neonatal Thrombocytopenia |
15 |
1660 |
c
|
MTR067 |
Maternal Uniparental Disomy of Chromosome 16 |
15 |
1661 |
|
ERL037 |
Early-Onset Lamellar Cataract |
15 |
1662 |
|
HRS038 |
Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features |
15 |
1663 |
|
CLB008 |
Coloboma of Eye Lens |
15 |
1664 |
|
CRN269 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation |
15 |
1665 |
|
ORL024 |
Oral and Digital Anomalies with Ichthyosis |
15 |
1666 |
|
CRY029 |
Cryptomicrotia-Brachydactyly Syndrome |
15 |
1667 |
c
|
PTS010 |
Ptosis, Hereditary Congenital 2 |
15 |
1668 |
|
PTS017 |
Ptosis, Strabismus, and Ectopic Pupils |
15 |
1669 |
|
OST061 |
Osteosclerosis with Ichthyosis and Premature Ovarian Failure |
15 |
1670 |
|
MCR242 |
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma |
15 |
1671 |
|
SBM006 |
Submucosal Cleft Palate |
15 |
1672 |
c
|
CTR176 |
Cataract, Age-Related Nuclear |
15 |
1673 |
c
|
RRM002 |
Rrm2b-Related Mitochondrial Disease |
15 |
1674 |
|
FRN047 |
Frontonasal Dysplasia with Alar Clefts |
15 |
1675 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
15 |
1676 |
|
BLT020 |
Bilateral Multicystic Dysplastic Kidney |
15 |
1677 |
|
CNG067 |
Congenital Cystic Eye |
15 |
1678 |
|
WHB001 |
Wahab Syndrome |
15 |
1679 |
|
SCR022 |
Sacral Meningocele Conotruncal Heart Defects |
14 |
1680 |
|
OVR110 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
14 |
1681 |
|
ANR045 |
Aneurysm of Interventricular Septum |
14 |
1682 |
|
DLT013 |
Deletion 5q35 |
14 |
1683 |
|
CNG518 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
14 |
1684 |
|
PSD102 |
Pseudohermaphroditism, Female, with Skeletal Anomalies |
14 |
1685 |
|
CMP079 |
Complete Septate Uterus |
14 |
1686 |
|
THR030 |
Thoraco Abdominal Enteric Duplication |
14 |
1687 |
|
DRM038 |
Dermotrichic Syndrome |
14 |
1688 |
|
MTP017 |
Metaphyseal Chondrodysplasia, Kaitila Type |
14 |
1689 |
|
MSC080 |
Mosaic Trisomy 12 |
14 |
1690 |
|
RNL109 |
Renal Hypoplasia, Bilateral |
14 |
1691 |
|
DST055 |
Distal 22q11.2 Microduplication Syndrome |
14 |
1692 |
|
PTR014 |
Paternal 20q13.2q13.3 Microdeletion Syndrome |
14 |
1693 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
14 |
1694 |
|
ART130 |
Arthrogryposis with Hyperkeratosis |
14 |
1695 |
|
BNK001 |
Banki Syndrome |
14 |
1696 |
|
PRB002 |
Proboscis Lateralis |
14 |
1697 |
|
PLT010 |
Pili Torti Onychodysplasia |
14 |
1698 |
|
PHL009 |
Phalangeal Microgeodic Syndrome |
14 |
1699 |
|
CRY037 |
Cryptophthalmia |
14 |
1700 |
|
SCL050 |
Scoliosis, Arachnodactyly, and Blindness |
14 |
1701 |
|
ARC020 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
14 |
1702 |
|
GRH002 |
Graham Boyle Troxell Syndrome |
14 |
1703 |
|
ISL128 |
Isolated Microspherophakia |
13 |
1704 |
|
CCN010 |
Cocaine Embryofetopathy |
13 |
1705 |
|
MCR186 |
Microtriplication 11q24.1 |
13 |
1706 |
|
URC012 |
Urachal Sinus |
13 |
1707 |
|
ANN015 |
Anonychia with Flexural Pigmentation |
13 |
1708 |
|
URC013 |
Urachal Diverticulum |
13 |
1709 |
|
ISL111 |
Isolated Arrhinia |
13 |
1710 |
c
|
BNM021 |
Bone Mineral Density Quantitative Trait Locus 7 |
13 |
1711 |
P
|
DFN296 |
Deafness-Onychodystrophy Syndrome |
13 |
1712 |
|
SBP003 |
Subependymal Nodular Heterotopia |
13 |
1713 |
|
CRN271 |
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism |
13 |
1714 |
|
CMP022 |
Camptodactyly Taurinuria |
13 |
1715 |
|
PRT237 |
Partial Deletion of the Long Arm of Chromosome 16 |
13 |
1716 |
|
DFN310 |
Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy |
13 |
1717 |
|
5Q3001 |
5q35 Microduplication Syndrome |
13 |
1718 |
|
RRC028 |
Rare Congenital Non-Syndromic Heart Malformation |
13 |
1719 |
|
PRT184 |
Partial Deletion of the Long Arm of Chromosome 11 |
13 |
1720 |
|
PRT206 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 |
13 |
1721 |
|
EXS015 |
Exostoses with Anetodermia and Brachydactyly, Type E |
13 |
1722 |
|
GZR001 |
Guizar Vasquez Sanchez Manzano Syndrome |
13 |
1723 |
|
DVR007 |
Diverticulosis of Bowel, Hernia, and Retinal Detachment |
13 |
1724 |
|
PRM319 |
Primary Bone Dysplasia |
13 |
1725 |
|
VRT011 |
Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis |
13 |
1726 |
|
LRY034 |
Laryngotracheal Angioma |
13 |
1727 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
13 |
1728 |
|
PRT178 |
Partial Deletion of the Long Arm of Chromosome 5 |
13 |
1729 |
|
OST142 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
13 |
1730 |
|
KLM001 |
Klumpke Paralysis |
13 |
1731 |
c
|
MTR057 |
Maternal Uniparental Disomy of Chromosome X |
13 |
1732 |
|
20Q002 |
20q11.2 Microduplication Syndrome |
13 |
1733 |
|
ART097 |
Aorto-Left Ventricular Tunnel |
12 |
1734 |
c
|
CMP100 |
Campomelic Dysplasia and Related Disorders |
12 |
1735 |
c
|
SLV022 |
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 |
12 |
1736 |
|
PRP103 |
Peripapillary Staphyloma |
12 |
1737 |
|
HYP671 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
12 |
1738 |
|
NND005 |
Non-Distal Trisomy 13q |
12 |
1739 |
|
XQ1001 |
Xq12-Q13.3 Duplication Syndrome |
12 |
1740 |
|
LBR027 |
Laubry-Pezzi Syndrome |
12 |
1741 |
|
LPM011 |
Lip, Median Nodule of Upper |
12 |
1742 |
|
TRN045 |
True Unicornuate Uterus |
12 |
1743 |
|
GLS016 |
Glossopalatine Ankylosis |
12 |
1744 |
|
SHR090 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
12 |
1745 |
|
NND004 |
Non-Distal Monosomy 10q |
12 |
1746 |
|
FBL015 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
12 |
1747 |
c
|
EZH001 |
Ezh2-Related Overgrowth |
12 |
1748 |
|
PRT180 |
Partial Deletion of the Long Arm of Chromosome 7 |
12 |
1749 |
|
PRT186 |
Partial Duplication of the Long Arm of Chromosome X |
12 |
1750 |
|
XLN204 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
12 |
1751 |
|
ANM077 |
Anomalous Aortic Origin of the Left Coronary Artery |
11 |
1752 |
|
OST144 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
11 |
1753 |
|
MDL028 |
Midline Cerebral Malformation |
11 |
1754 |
c
|
RRC022 |
Rare Chromosomal Anomaly |
11 |
1755 |
|
THR083 |
Third Branchial Cleft Anomaly |
11 |
1756 |
|
FRN052 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
11 |
1757 |
c
|
INT382 |
Intermediate Atrioventricular Septal Defect |
11 |
1758 |
|
DYS044 |
Dysmorphism Cleft Palate Loose Skin |
11 |
1759 |
c
|
MLT172 |
Multiple Metaphyseal Dysplasia |
11 |
1760 |
c
|
CNG249 |
Congenital Pulmonary Venous Return Anomaly |
11 |
1761 |
c
|
MTC199 |
Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis |
11 |
1762 |
|
INV014 |
Inverse Klippel-Trenaunay Syndrome |
11 |
1763 |
|
PTS015 |
Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome |
11 |
1764 |
c
|
BNM017 |
Bone Mineral Density Quantitative Trait Locus 2 |
11 |
1765 |
|
MCR357 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
11 |
1766 |
c
|
BCK012 |
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 |
11 |
1767 |
|
MTP011 |
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth |
11 |
1768 |
|
ONY006 |
Onychodystrophy-Anonychia |
11 |
1769 |
|
CRV060 |
Cervical Dermoid Cyst |
11 |
1770 |
|
PRT185 |
Partial Deletion of the Long Arm of Chromosome 13 |
11 |
1771 |
|
THN011 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
11 |
1772 |
c
|
CNG405 |
Congenital Pulmonary Airway Malformation Type 4 |
11 |
1773 |
c
|
RRD018 |
Rare Disease with Pierre Robin Syndrome |
10 |
1774 |
|
CNT077 |
Central Bilateral Macrogyria |
10 |
1775 |
|
MRN008 |
Marin-Amat Syndrome |
10 |
1776 |
|
PRT163 |
Partial Deletion of the Short Arm of Chromosome 5 |
10 |
1777 |
|
MSC087 |
Mosaic Trisomy 4 |
10 |
1778 |
c
|
CHR161 |
Chiari Malformation Type 3 |
10 |
1779 |
c
|
BNM023 |
Bone Mineral Density Quantitative Trait Locus 9 |
10 |
1780 |
c
|
BNM024 |
Bone Mineral Density Quantitative Trait Locus 10 |
10 |
1781 |
c
|
BNM026 |
Bone Mineral Density Quantitative Trait Locus 12 |
10 |
1782 |
c
|
BNM028 |
Bone Mineral Density Quantitative Trait Locus 14 |
10 |
1783 |
c
|
MCR185 |
Macrodactyly of Toes |
10 |
1784 |
|
CNG575 |
Congenital Joint Dislocations |
10 |
1785 |
|
CNG244 |
Congenital Laryngeal Cyst |
10 |
1786 |
|
ATS453 |
Autosomal Anomaly |
10 |
1787 |
|
PRT169 |
Partial Deletion of the Short Arm of Chromosome 11 |
10 |
1788 |
|
PRT219 |
Partial Duplication of the Short Arm of Chromosome 6 |
10 |
1789 |
|
PRM246 |
Primary Tethered Cord Syndrome |
10 |
1790 |
|
MCR184 |
Macrodactyly of Fingers |
10 |
1791 |
|
MSC088 |
Mosaic Trisomy 5 |
10 |
1792 |
c
|
EDR001 |
Eed-Related Overgrowth |
10 |
1793 |
c
|
BNM019 |
Bone Mineral Density Quantitative Trait Locus 5 |
10 |
1794 |
c
|
FML317 |
Familial Monosomy 7 Syndrome |
10 |
1795 |
c
|
ISC017 |
Isca2-Related Mitochondrial Disorder |
10 |
1796 |
|
PRT164 |
Partial Deletion of the Short Arm of Chromosome 8 |
10 |
1797 |
|
PRT179 |
Partial Deletion of the Long Arm of Chromosome 6 |
10 |
1798 |
|
PRC042 |
Parachute Tricuspid Valve |
10 |
1799 |
c
|
CNG251 |
Congenital Pericardium Anomaly |
10 |
1800 |
c
|
BNM025 |
Bone Mineral Density Quantitative Trait Locus 11 |
9 |
1801 |
c
|
BNM027 |
Bone Mineral Density Quantitative Trait Locus 13 |
9 |
1802 |
|
SYN027 |
Syngnathia Cleft Palate |
9 |
1803 |
|
CNG392 |
Congenital Pulmonary Veins Atresia or Stenosis |
9 |
1804 |
|
ANG057 |
Angioosteohypotrophic Syndrome |
9 |
1805 |
c
|
RRR004 |
Rare Arteriovenous Malformation |
9 |
1806 |
c
|
AML063 |
Amelogenesis Imperfecta Type 2a1 |
9 |
1807 |
c
|
PRT205 |
Partial Trisomy of the Long Arm of Chromosome 5 |
9 |
1808 |
|
DST085 |
Distal Trisomy 2q |
9 |
1809 |
|
RRV006 |
Rare Venous Malformation |
9 |
1810 |
|
PRT187 |
Partial Duplication of Chromosome X |
9 |
1811 |
|
SYN143 |
Syndromic Telecanthus |
9 |
1812 |
|
DST081 |
Distal Trisomy 11q |
9 |
1813 |
|
PRT106 |
Partial Duplication of the Short Arm of Chromosome X |
9 |
1814 |
c
|
BNM014 |
Bone Mineral Density Quantitative Trait Locus 4 |
9 |
1815 |
c
|
BNM020 |
Bone Mineral Density Quantitative Trait Locus 6 |
9 |
1816 |
|
CNG272 |
Congenital Achiasma |
9 |
1817 |
|
CNG490 |
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome |
9 |
1818 |
|
PNC130 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
9 |
1819 |
|
SPN341 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
9 |
1820 |
|
DST076 |
Distal Trisomy 13q |
9 |
1821 |
|
INV017 |
Inverse Marcus-Gunn Phenomenon |
9 |
1822 |
|
PRT218 |
Partial Duplication of the Short Arm of Chromosome 3 |
9 |
1823 |
|
PRT145 |
Partial Deletion of Chromosome 3 |
9 |
1824 |
|
PRT167 |
Partial Deletion of the Short Arm of Chromosome 9 |
9 |
1825 |
|
RNL107 |
Renal Dysplasia, Bilateral |
9 |
1826 |
c
|
SCN085 |
Secondary Ectropion |
9 |
1827 |
|
PRT236 |
Partial Deletion of the Long Arm of Chromosome 15 |
9 |
1828 |
|
PRT159 |
Partial Deletion of the Short Arm of Chromosome 1 |
9 |
1829 |
|
PRT228 |
Partial Duplication of Chromosome 1 |
8 |
1830 |
|
ISL047 |
Isolated Unilateral Hemispheric Cerebellar Hypoplasia |
8 |
1831 |
|
MLT170 |
Multiple Congenital Anomalies/dysmorphic Syndrome |
8 |
1832 |
|
ESP045 |
Esophageal Malformation |
8 |
1833 |
|
PRT197 |
Partial Duplication of the Long Arm of Chromosome 15 |
8 |
1834 |
|
DST057 |
Distal Trisomy 19q |
8 |
1835 |
|
RNL106 |
Renal Dysplasia, Unilateral |
8 |
1836 |
|
CNG359 |
Congenitally Uncorrected Transposition of the Great Arteries with Coarctation |
8 |
1837 |
|
SYN127 |
Syndromic Ectopia Lentis |
8 |
1838 |
|
CNG517 |
Congenital Agenesis of the Scrotum |
8 |
1839 |
|
CCH007 |
Cochleovestibular Dysplasia |
8 |
1840 |
P
|
PRM337 |
Primary Osteolysis |
8 |
1841 |
|
RNL108 |
Renal Hypoplasia, Unilateral |
8 |
1842 |
|
3Q2004 |
3q26 Microduplication Syndrome |
8 |
1843 |
|
TRS020 |
Tarsal Kink Syndrome |
8 |
1844 |
|
PRT225 |
Partial Duplication of Chromosome 17 |
8 |
1845 |
|
ISL108 |
Isolated Splenogonadal Fusion |
8 |
1846 |
|
CNG334 |
Congenital Esophageal Diverticulum |
8 |
1847 |
c
|
KRN003 |
Kernicterus Due to Isoimmunization |
8 |
1848 |
|
PRT177 |
Partial Deletion of the Long Arm of Chromosome 4 |
8 |
1849 |
c
|
PRT182 |
Partial Monosomy of the Long Arm of Chromosome 9 |
8 |
1850 |
|
CNG318 |
Congenital Genu Recurvatum |
8 |
1851 |
P
|
RRC010 |
Rare Capillary Malformation |
7 |
1852 |
P
|
PRT173 |
Partial Monosomy of the Short Arm of Chromosome 20 |
7 |
1853 |
|
PRT226 |
Partial Duplication of Chromosome 16 |
7 |
1854 |
P
|
NNS070 |
Non-Syndromic Cerebral Malformation |
7 |
1855 |
|
PLY086 |
Polyrrhinia |
7 |
1856 |
|
PRT151 |
Partial Deletion of Chromosome 16 |
7 |
1857 |
|
SPN437 |
Spondylodysplastic Dysplasia |
7 |
1858 |
|
BNL004 |
Benallegue Lacete Syndrome |
7 |
1859 |
|
ORF053 |
Orofacial Clefting Syndrome |
7 |
1860 |
|
PRT146 |
Partial Deletion of Chromosome 8 |
7 |
1861 |
|
CNG288 |
Congenital Absence of Upper Arm and Forearm with Hand Present |
7 |
1862 |
c
|
BCK015 |
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 |
7 |
1863 |
c
|
PTR023 |
Paternal Uniparental Disomy of Chromosome 13 |
7 |
1864 |
c
|
PRT170 |
Partial Monosomy of the Short Arm of Chromosome 17 |
7 |
1865 |
|
FTL049 |
Fetal Carbamazepine Syndrome |
7 |
1866 |
|
URG006 |
Urogenital Tract Malformation |
7 |
1867 |
|
MLF005 |
Malformation Syndrome with Short Stature |
6 |
1868 |
|
PRT143 |
Partial Deletion of Chromosome 5 |
6 |
1869 |
|
14Q003 |
14q11.2 Microduplication Syndrome |
6 |
1870 |
|
OKH001 |
Okihiro Syndrome Due to a Point Mutation |
6 |
1871 |
|
PRT189 |
Partial Duplication of the Long Arm of Chromosome 19 |
6 |
1872 |
|
RNN007 |
Reunion Island Larsen-Like Syndrome |
6 |
1873 |
c
|
MTR065 |
Maternal Uniparental Disomy of Chromosome 21 |
6 |
1874 |
c
|
MTR079 |
Maternal Uniparental Disomy of Chromosome 13 |
6 |
1875 |
|
PRN015 |
Perinatal Intestinal Perforation |
6 |
1876 |
c
|
YCH004 |
Y Chromosomal Anomaly |
6 |
1877 |
c
|
CHR162 |
Chiari Malformation Type 4 |
6 |
1878 |
c
|
CRB128 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 1 |
6 |
1879 |
|
CMM016 |
Commissural Lip Fistula |
6 |
1880 |
|
DST058 |
Distal Monosomy 12p |
6 |
1881 |
|
DST074 |
Distal Trisomy 20q |
6 |
1882 |
c
|
RNL090 |
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion |
6 |
1883 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
6 |
1884 |
|
CLS025 |
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
6 |
1885 |
|
CLS027 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form |
6 |
1886 |
|
CLS028 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form |
6 |
1887 |
|
UPP009 |
Upper Limb Hypertrophy |
6 |
1888 |
c
|
NNS047 |
Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration |
6 |
1889 |
|
7Q3001 |
7q31 Microdeletion Syndrome |
6 |
1890 |
|
PRT148 |
Partial Deletion of Chromosome 6 |
6 |
1891 |
|
DST054 |
Distal 17p13.3 Microdeletion Syndrome |
6 |
1892 |
|
PRT222 |
Partial Duplication of Chromosome 8 |
6 |
1893 |
|
PRT229 |
Partial Duplication of Chromosome 2 |
6 |
1894 |
c
|
KLN007 |
Koolen-De Vries Syndrome Due to a Point Mutation |
6 |
1895 |
c
|
PTR022 |
Paternal Uniparental Disomy of Chromosome 7 |
6 |
1896 |
|
TBL020 |
Tubular Duplication of the Esophagus |
6 |
1897 |
|
NSN002 |
Nose and Cavum Anomaly |
6 |
1898 |
c
|
RRD061 |
Rare Disorder with Ptosis |
6 |
1899 |
c
|
CRB127 |
Cerebrofacial Arteriovenous Metameric Syndrome Type 3 |
5 |
1900 |
|
CLB023 |
Coloboma of Inferior Eyelid |
5 |
1901 |
|
PRT172 |
Partial Deletion of the Short Arm of Chromosome 19 |
5 |
1902 |
|
PRT176 |
Partial Deletion of the Long Arm of Chromosome 3 |
5 |
1903 |
|
PRT192 |
Partial Duplication of the Long Arm of Chromosome 22 |
5 |
1904 |
|
PRT201 |
Partial Duplication of the Long Arm of Chromosome 3 |
5 |
1905 |
|
PRT209 |
Partial Duplication of the Short Arm of Chromosome 17 |
5 |
1906 |
|
INT186 |
Intralobar Congenital Pulmonary Sequestration |
5 |
1907 |
|
CNG582 |
Congenital Disorder of Glycosylation with Deafness As a Major Feature |
5 |
1908 |
|
DBL020 |
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect |
5 |
1909 |
|
DBL016 |
Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy |
5 |
1910 |
|
DST077 |
Distal Trisomy 22q |
5 |
1911 |
|
DST083 |
Distal Trisomy 9q |
5 |
1912 |
|
SYN155 |
Syndromic Anorectal Malformation |
5 |
1913 |
|
SYN145 |
Syndromic Epicanthus |
5 |
1914 |
|
MLF009 |
Malformation of the Cerebellar Vermis |
5 |
1915 |
|
PRT155 |
Partial Deletion of Chromosome 17 |
5 |
1916 |
|
PRT212 |
Partial Duplication of the Short Arm of Chromosome 16 |
5 |
1917 |
|
PRM320 |
Primary Bone Dysplasia with Micromelia |
5 |
1918 |
|
LSS032 |
Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome |
5 |
1919 |
|
DRG019 |
Drug-Related Renal Tubular Dysgenesis |
5 |
1920 |
|
DST067 |
Distal Monosomy 14q |
5 |
1921 |
|
PRM332 |
Primary Bone Dysplasia with Defective Bone Mineralization |
5 |
1922 |
|
PRM333 |
Primary Bone Dysplasia with Decreased Bone Density |
5 |
1923 |
|
NNT057 |
Neonatal Osteosclerotic Dysplasia |
5 |
1924 |
|
PRM335 |
Primary Bone Dysplasia with Multiple Joint Dislocations |
5 |
1925 |
|
PRM336 |
Primary Bone Dysplasia with Disorganized Development of Skeletal Components |
5 |
1926 |
|
SLN010 |
Slender Bone Dysplasia |
5 |
1927 |
|
RGH007 |
Right Inferior Vena Cava Connecting to Left-Sided Atrium |
5 |
1928 |
|
CNG601 |
Congenital Tricuspid Malformation |
5 |
1929 |
|
CNG438 |
Congenital Disorder of Glycosylation with Developmental Anomaly |
5 |
1930 |
|
BCR005 |
Bicervical Bicornuate Uterus and Blind Hemivagina |
5 |
1931 |
|
ABS021 |
Absence of Uterine Body |
5 |
1932 |
|
PRR038 |
Pierre Robin Syndrome Associated with Bone Disease |
5 |
1933 |
c
|
PRT194 |
Partial Trisomy of the Long Arm of Chromosome 9 |
5 |
1934 |
|
PRT198 |
Partial Duplication of the Long Arm of Chromosome 14 |
5 |
1935 |
|
PRT240 |
Partial Deletion of the Long Arm of Chromosome 19 |
5 |
1936 |
|
CNG571 |
Congenital Disorder of Glycosylation-Related Bone Disorder |
5 |
1937 |
|
ISL117 |
Isolated Congenital Radial Head Dislocation |
5 |
1938 |
|
CNG583 |
Congenital Urachal Anomaly |
5 |
1939 |
|
STR107 |
Sterol Biosynthesis Disorder |
5 |
1940 |
|
STR109 |
Structural Developmental Eye Defect |
5 |
1941 |
|
CNG353 |
Congenital Partial Agenesis of Pericardium |
5 |
1942 |
|
SYN169 |
Syndrome with a Central Nervous System Malformation As a Major Feature |
5 |
1943 |
|
NNC007 |
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
5 |
1944 |
|
ERL060 |
Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia |
5 |
1945 |
c
|
LSS018 |
Lissencephaly with Cerebellar Hypoplasia Type F |
5 |
1946 |
|
ISL106 |
Isolated Congenital Microcephaly |
4 |
1947 |
c
|
ATS022 |
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract |
4 |
1948 |
|
NNS046 |
Non-Syndromic Urogenital Tract Malformation |
4 |
1949 |
|
LWS004 |
Low Isolated Anorectal Malformation |
4 |
1950 |
c
|
TSS003 |
Tessier Number 6 Facial Cleft |
4 |
1951 |
|
MDN007 |
Median Cleft Lip/mandibule |
4 |
1952 |
|
MXD034 |
Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations |
4 |
1953 |
|
2P1003 |
2p13.2 Microdeletion Syndrome |
4 |
1954 |
|
PRT245 |
Partial Deletion of Chromosome 12 |
4 |
1955 |
|
CNT081 |
Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome |
4 |
1956 |
|
MCR280 |
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome |
4 |
1957 |
|
ARX004 |
Arx-Related Encephalopathy-Brain Malformation Spectrum |
4 |
1958 |
|
4Q2002 |
4q25 Proximal Deletion Syndrome |
4 |
1959 |
|
RRC020 |
Rare Congenital Anomaly of Ventricular Septum |
4 |
1960 |
|
NND009 |
Non-Distal Trisomy 9q |
4 |
1961 |
|
SYN141 |
Syndromic Renal or Urinary Tract Malformation |
4 |
1962 |
|
RRP026 |
Rare Palpebral Disorder |
4 |
1963 |
|
RRT022 |
Rare Atrial Defect and Interatrial Communication |
4 |
1964 |
c
|
CNG593 |
Congenital Mitral Valve Insufficiency and/or Stenosis |
4 |
1965 |
c
|
RRD045 |
Rare Disorder with Ectropion |
4 |
1966 |
c
|
RRD027 |
Rare Disease with Malignant Hyperthermia |
4 |
1967 |
c
|
BLT012 |
Bilateral Renal Agenesis Dominant Type |
4 |
1968 |
|
PRT224 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 |
4 |
1969 |
|
SYN166 |
Syndrome with a Dandy-Walker Malformation As a Major Feature |
4 |
1970 |
|
MRF016 |
Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome |
4 |
1971 |
|
ISL130 |
Isolated Congenital Entropion |
4 |
1972 |
|
PRS139 |
Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium |
4 |
1973 |
|
ISL071 |
Isolated Congenital Ectropion |
4 |
1974 |
|
CNG598 |
Congenital Malformation of the Eye with Glaucoma As a Major Feature |
4 |
1975 |
|
OTH025 |
Other Syndrome with Lissencephaly As a Major Feature |
4 |
1976 |
c
|
XND001 |
X and Y Chromosomal Anomaly |
4 |
1977 |
c
|
RRD046 |
Rare Disorder with Entropion |
4 |
1978 |
|
HGH040 |
High Isolated Anorectal Malformation |
4 |
1979 |
|
ISL107 |
Isolated Congenital Syngnathia |
4 |
1980 |
|
PRT156 |
Partial Deletion of Chromosome 20 |
4 |
1981 |
c
|
XCH002 |
X Chromosome Number Anomaly |
4 |
1982 |
|
MLF006 |
Malformation of the Neurenteric Canal, Spinal Cord and Column |
4 |
1983 |
|
PRT243 |
Partial Duplication of the Short Arm of Chromosome 1 |
4 |
1984 |
|
HMZ005 |
Homozygous 2p21 Microdeletion Syndrome |
4 |
1985 |
|
CNG576 |
Congenital Deformities of Fingers |
4 |
1986 |
|
MCR187 |
Macrodactyly of Fingers, Bilateral |
4 |
1987 |
|
LTH049 |
Lethal Multiple Congenital Anomalies/dysmorphic Syndrome |
4 |
1988 |
|
OVR126 |
Overgrowth or Tall Stature Syndrome with Skeletal Involvement |
4 |
1989 |
|
GNT161 |
Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy |
4 |
1990 |
|
MYB004 |
Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome |
4 |
1991 |
|
NNS058 |
Non-Syndromic Renal or Urinary Tract Malformation |
4 |
1992 |
|
SYN156 |
Syndrome with Limb Malformations As a Major Feature |
4 |
1993 |
|
SYN157 |
Syndromic Respiratory or Mediastinal Malformation |
4 |
1994 |
|
NNS064 |
Non-Syndromic Central Nervous System Malformation |
4 |
1995 |
|
SYN159 |
Syndromic Diaphragmatic or Abdominal Wall Malformation |
4 |
1996 |
|
SYN162 |
Syndromic Esophageal Malformation |
4 |
1997 |
c
|
SYN028 |
Syngnathia Multiple Anomalies |
3 |
1998 |
|
MLF004 |
Malformation Syndrome with Odontal and/or Periodontal Component |
3 |
1999 |
|
MTR085 |
Maternal Disease-Related Embryofetopathy |
3 |
2000 |
c
|
CNG565 |
Congenital Systemic Veins Anomaly |
3 |
2001 |
|
TRC124 |
True Congenital Shoulder Dislocation |
3 |
2002 |
|
DYS206 |
Dysostosis with Brachydactyly with Extraskeletal Manifestations |
3 |
2003 |
|
CNG493 |
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome |
3 |
2004 |
|
ISL132 |
Isolated Megalopapilla |
3 |
2005 |
|
ANT090 |
Anterior Segment Developmental Abnormality with Extraocular Manifestations |
3 |
2006 |
|
RRT021 |
Rare Otorhinolaryngological Malformation |
3 |
2007 |
|
CNG341 |
Congenital Anomaly of the Coronary Sinus |
3 |
2008 |
|
STR075 |
Straddling or Overriding Tricuspid Valve |
3 |
2009 |
|
PTL012 |
Patellar Dysostosis |
3 |
2010 |
|
NNS060 |
Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy |
3 |
2011 |
|
CNG349 |
Congenital Patent Ductus Arteriosus Aneurysm |
3 |
2012 |
|
CNG361 |
Congenital Supravalvular Mitral Ring |
3 |
2013 |
|
LNS007 |
Lens Shape Anomaly |
3 |
2014 |
|
HRT042 |
Heart Position Anomaly |
3 |
2015 |
|
SYN163 |
Syndromic Gastroduodenal Malformation |
3 |
2016 |
|
PSD120 |
Pseudohypoparathyroidism Without Albright Hereditary Osteodystrophy |
3 |
2017 |
|
RRV004 |
Rare Vaginal Malformation |
3 |
2018 |
|
NNS051 |
Non-Syndromic Urogenital Tract Malformation of Male |
3 |
2019 |
|
PRR037 |
Pierre Robin Syndrome Associated with a Chromosomal Anomaly |
3 |
2020 |
|
TRT023 |
Teratogenic Pierre Robin Syndrome |
3 |
2021 |
|
RRS007 |
Rare Syndrome with Cardiac Malformations |
3 |
2022 |
|
PRT221 |
Partial Trisomy/tetrasomy of Chromosome 9 |
3 |
2023 |
|
PRT232 |
Partial Trisomy/tetrasomy of Chromosome 5 |
3 |
2024 |
|
LPM014 |
Lipoma Associated with Neurospinal Dysraphism |
3 |
2025 |
|
OTH026 |
Other Syndrome with a Central Nervous System Malformation As a Major Feature |
3 |
2026 |
|
CNT113 |
Central Nervous System Cystic Malformation |
3 |
2027 |
|
INF180 |
Infantile Hemangioma of Rare Localization |
3 |
2028 |
|
EPB005 |
Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome |
3 |
2029 |
c
|
MTC198 |
Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes |
3 |
2030 |
|
CNG321 |
Congenital Elbow Dislocation, Bilateral |
3 |
2031 |
|
RRC017 |
Rare Capillary Malformation with Associated Anomalies |
3 |
2032 |
|
DPH029 |
Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome |
3 |
2033 |
c
|
TTL013 |
Total Autosomal Trisomy |
3 |
2034 |
|
SXC006 |
Sex-Chromosome Structural Anomaly |
3 |
2035 |
P
|
CHR690 |
Chromosome Y Structural Anomaly |
3 |
2036 |
c
|
CHR691 |
Chromosome X Structural Anomaly |
3 |
2037 |
|
MLF007 |
Malformation Syndrome with Hamartosis |
3 |
2038 |
|
CRN315 |
Cranial Nerve and Nuclear Aplasia |
3 |
2039 |
|
NNS063 |
Non-Syndromic Respiratory or Mediastinal Malformation |
3 |
2040 |
c
|
PLM183 |
Pulmonary Hypoplasia, Familial Primary |
3 |
2041 |
|
RRD017 |
Rare Developmental Defect with Connective Tissue Involvement |
3 |
2042 |
|
RRH012 |
Rare Head and Neck Malformation |
3 |
2043 |
|
PNN007 |
Pinnae and External Auditory Canal Anomaly |
3 |
2044 |
|
TXC022 |
Toxic or Drug-Related Embryofetopathy |
3 |
2045 |
|
ENC071 |
Encephaloclastic Disorder |
3 |
2046 |
|
SYN167 |
Syndrome with Microcephaly As a Major Feature |
3 |
2047 |
|
RRD038 |
Rare Disorder with Hirschsprung Disease As a Major Feature |
3 |
2048 |
|
TRN077 |
Transposition of the Great Arteries and Conotruncal Cardiac Anomaly |
3 |
2049 |
|
NNS067 |
Non-Syndromic Gastroduodenal Malformation |
3 |
2050 |
|
NNS052 |
Non-Syndromic Urogenital Tract Malformation of Male and Female |
2 |
2051 |
|
SYN107 |
Syndrome or Malformation Associated with Head and Neck Malformations |
2 |
2052 |
|
ORM003 |
Oromandibular-Limb Anomalies Syndrome |
2 |
2053 |
|
XCH001 |
X Chromosome Number Anomaly with Male Phenotype |
2 |
2054 |
|
CHR693 |
Chromosomal Disease with Overgrowth |
2 |
2055 |
|
NNS069 |
Non-Syndromic Esophageal Malformation |
2 |
2056 |
P
|
TST021 |
Testicular Germ Cell Tumor |
60 |
2057 |
c
|
TST046 |
Testicular Germ Cell Tumor 1 |
29 |
2058 |
|
UND001 |
Undifferentiated Embryonal Sarcoma of the Liver |
30 |
2059 |
P
|
MDL005 |
Medulloblastoma |
77 |
2060 |
|
GRC001 |
Gracile Syndrome |
47 |
2061 |
c
|
ADL023 |
Adult Medulloblastoma |
44 |
2062 |
|
WLL022 |
Well-Differentiated Fetal Adenocarcinoma of the Lung |
16 |
2063 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma |
7 |
2064 |
|
CHL048 |
Childhood Teratocarcinoma of the Testis |
6 |
2065 |
|
NRL016 |
Neural Tube Defects |
82 |
2066 |
|
MRF001 |
Marfan Syndrome |
77 |
2067 |
|
PHN003 |
Phenylketonuria |
75 |
2068 |
P
|
TTR001 |
Tetralogy of Fallot |
70 |
2069 |
P
|
DMN001 |
Diamond-Blackfan Anemia |
69 |
2070 |
P
|
ANG001 |
Angelman Syndrome |
69 |
2071 |
P
|
CRN037 |
Craniosynostosis |
68 |
2072 |
|
CST001 |
Costello Syndrome |
68 |
2073 |
P
|
KBK002 |
Kabuki Syndrome 1 |
67 |
2074 |
P
|
CRB048 |
Cerebral Cavernous Malformations |
67 |
2075 |
P
|
DYS007 |
Dyskeratosis Congenita |
67 |
2076 |
|
FCL009 |
Focal Dermal Hypoplasia |
66 |
2077 |
|
AND002 |
Androgen Insensitivity Syndrome |
66 |
2078 |
c
|
MCL013 |
Mucolipidosis Iv |
66 |
2079 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
65 |
2080 |
|
CRN036 |
Craniopharyngioma |
65 |
2081 |
P
|
PSD087 |
Pseudoxanthoma Elasticum |
65 |
2082 |
P
|
CLD001 |
Cleidocranial Dysplasia |
65 |
2083 |
P
|
ART062 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
65 |
2084 |
P
|
CMP005 |
Campomelic Dysplasia |
64 |
2085 |
|
NRR002 |
Norrie Disease |
64 |
2086 |
|
SPT006 |
Septooptic Dysplasia |
64 |
2087 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
63 |
2088 |
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
63 |
2089 |
P
|
CFF008 |
Coffin-Siris Syndrome 1 |
63 |
2090 |
|
ELL001 |
Ellis-Van Creveld Syndrome |
62 |
2091 |
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
2092 |
|
DNH001 |
Donohue Syndrome |
62 |
2093 |
P
|
DNT020 |
Dent Disease 1 |
62 |
2094 |
P
|
THN009 |
Thanatophoric Dysplasia, Type I |
62 |
2095 |
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
62 |
2096 |
|
SCH078 |
Schimmelpenning-Feuerstein-Mims Syndrome |
62 |
2097 |
P
|
CRN038 |
Carney Complex Variant |
61 |
2098 |
P
|
HYP035 |
Hypophosphatasia |
61 |
2099 |
|
ART141 |
Arteriovenous Malformations of the Brain |
61 |
2100 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
61 |
2101 |
c
|
HYP304 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
61 |
2102 |
P
|
HMN010 |
Hemangioma |
61 |
2103 |
|
PYR022 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
60 |
2104 |
|
CNG410 |
Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly |
60 |
2105 |
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
2106 |
|
STR039 |
Sturge-Weber Syndrome |
60 |
2107 |
P
|
WLF004 |
Wolfram Syndrome |
60 |
2108 |
P
|
CTR002 |
Cataract |
60 |
2109 |
|
WLF002 |
Wolf-Hirschhorn Syndrome |
59 |
2110 |
|
PRN019 |
Perinatal Necrotizing Enterocolitis |
59 |
2111 |
P
|
ADM011 |
Adams-Oliver Syndrome |
59 |
2112 |
|
MNK003 |
Muenke Syndrome |
59 |
2113 |
|
PSD012 |
Pseudoachondroplasia |
58 |
2114 |
|
FCL081 |
Focal Cortical Dysplasia, Type Ii |
58 |
2115 |
P
|
MLT007 |
Multiple Epiphyseal Dysplasia |
58 |
2116 |
|
MCS006 |
Macs Syndrome |
58 |
2117 |
|
DST005 |
Diastrophic Dysplasia |
58 |
2118 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
58 |
2119 |
|
DNY001 |
Denys-Drash Syndrome |
57 |
2120 |
P
|
ZLL001 |
Zellweger Syndrome |
57 |
2121 |
c
|
OTP007 |
Otopalatodigital Syndrome, Type Ii |
57 |
2122 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
57 |
2123 |
|
ARS001 |
Aarskog-Scott Syndrome |
57 |
2124 |
|
ENC044 |
Enchondromatosis, Multiple, Ollier Type |
57 |
2125 |
c
|
LSS005 |
Lissencephaly 1 |
56 |
2126 |
|
DNN002 |
Donnai-Barrow Syndrome |
56 |