| # |
Family |
MCID |
Name |
MIFTS |
| 1 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
52 |
| 2 |
|
CHL153 |
Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified |
5 |
| 3 |
|
FTL028 |
Fetal Retinoid Syndrome |
15 |
| 4 |
|
ACT091 |
Acitretin Embryopathy |
7 |
| 5 |
c
|
LYM145 |
Lymphatic Malformation 5 |
52 |
| 6 |
c
|
LYM144 |
Lymphatic Malformation 1 |
47 |
| 7 |
P
|
LYM127 |
Lymphatic Malformations |
44 |
| 8 |
P
|
PRG092 |
Pregnancy Loss, Recurrent 1 |
40 |
| 9 |
c
|
LYM150 |
Lymphatic Malformation 7 |
40 |
| 10 |
c
|
RRL003 |
Rare Lymphatic Malformation |
32 |
| 11 |
c
|
LYM147 |
Lymphatic Malformation 3 |
23 |
| 12 |
c
|
LYM148 |
Lymphatic Malformation 4 |
21 |
| 13 |
c
|
LYM146 |
Lymphatic Malformation 2 |
16 |
| 14 |
P
|
PRM252 |
Preimplantation Embryonic Lethality 1 |
21 |
| 15 |
|
TWN001 |
Twin-to-Twin Transfusion Syndrome |
46 |
| 16 |
|
NCH001 |
Nuchal Bleb, Familial |
24 |
| 17 |
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
45 |
| 18 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
44 |
| 19 |
|
CHL043 |
Childhood Embryonal Testis Carcinoma |
9 |
| 20 |
|
CRD031 |
Cardiomyopathy, Fatal Fetal, Due to Myocardial Calcification |
8 |
| 21 |
|
FTL004 |
Fetal Erythroblastosis |
37 |
| 22 |
|
OVR050 |
Ovarian Embryonal Carcinoma |
37 |
| 23 |
|
CHL026 |
Childhood Ovarian Embryonal Carcinoma |
8 |
| 24 |
c
|
ADL007 |
Adult Central Nervous System Embryonal Carcinoma |
8 |
| 25 |
|
FTL066 |
Fetal Akinesia Syndrome, X-Linked |
12 |
| 26 |
|
FTL011 |
Fetal Aminopterin Syndrome |
11 |
| 27 |
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
43 |
| 28 |
|
GRM001 |
Germ Cell and Embryonal Cancer |
31 |
| 29 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
21 |
| 30 |
c
|
PRM251 |
Preimplantation Embryonic Lethality 2 |
16 |
| 31 |
c
|
PRS137 |
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant |
12 |
| 32 |
|
PDT006 |
Pediatric Cns Embryonal Cell Carcinoma |
7 |
| 33 |
c
|
CTR102 |
Cataract 2, Multiple Types |
31 |
| 34 |
|
FTL016 |
Fetal Edema |
24 |
| 35 |
|
ORB002 |
Orbit Embryonal Rhabdomyosarcoma |
19 |
| 36 |
|
PRS010 |
Prostate Embryonal Rhabdomyosarcoma |
18 |
| 37 |
c
|
FTL035 |
Fetal Hemoglobin Quantitative Trait Locus 3 |
15 |
| 38 |
|
VLV013 |
Vulvar Childhood Botryoid-Type Embryonal Rhabdomyosarcoma |
6 |
| 39 |
|
NNC014 |
Non-Central Nervous System-Localized Embryonal Carcinoma |
5 |
| 40 |
c
|
RBN018 |
Robinow Syndrome, Autosomal Dominant 1 |
42 |
| 41 |
|
GCH018 |
Gaucher Disease, Perinatal Lethal |
39 |
| 42 |
c
|
FTL070 |
Fetal Akinesia Deformation Sequence 2 |
33 |
| 43 |
c
|
FTL071 |
Fetal Akinesia Deformation Sequence 3 |
23 |
| 44 |
c
|
FTL072 |
Fetal Akinesia Deformation Sequence 4 |
20 |
| 45 |
|
MRS006 |
Morse-Rawnsley-Sargent Syndrome |
4 |
| 46 |
|
EMB002 |
Embryoma |
45 |
| 47 |
|
ALC001 |
Alcohol-Related Birth Defect |
34 |
| 48 |
|
PRT001 |
Partial Fetal Alcohol Syndrome |
26 |
| 49 |
|
PRM208 |
Parameningeal Embryonal Rhabdomyosarcoma |
16 |
| 50 |
|
FTL021 |
Fetal Macrosomia |
43 |
| 51 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
42 |
| 52 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
38 |
| 53 |
c
|
CTR132 |
Cataract 3, Multiple Types |
38 |
| 54 |
c
|
NML025 |
Nemaline Myopathy 8 |
25 |
| 55 |
c
|
LTH047 |
Lethal Congenital Contracture Syndrome 3 |
25 |
| 56 |
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
25 |
| 57 |
|
PRV001 |
Parovarian Cyst |
24 |
| 58 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
23 |
| 59 |
|
FTL005 |
Fetal Adenoma |
21 |
| 60 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
21 |
| 61 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
20 |
| 62 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
20 |
| 63 |
|
MTR016 |
Maternal Hyperphenylalaninemia |
20 |
| 64 |
|
CCN012 |
Cocaine Antenatal Exposure |
15 |
| 65 |
|
FTL048 |
Fetal Lung Interstitial Tumor |
15 |
| 66 |
|
NNT022 |
Neonatal Ovarian Cyst |
14 |
| 67 |
|
RR2001 |
Ror2-Related Robinow Syndrome |
11 |
| 68 |
|
FTL020 |
Fetal Left Ventricular Aneurysm |
9 |
| 69 |
|
THY113 |
Thymic Aplasia with Fetal Death |
7 |
| 70 |
|
MXD015 |
Mixed Type Rhabdomyosarcoma |
5 |
| 71 |
|
RRG014 |
Rare Genetic Developmental Defect During Embryogenesis |
5 |
| 72 |
|
SMT021 |
Somatomedin, Embryonic |
4 |
| 73 |
|
FTL063 |
Fetal Nicotine Spectrum Disorder |
3 |
| 74 |
|
EMB017 |
Embryonal Tumor of Neuroepithelial Tissue |
3 |
| 75 |
|
NNR010 |
Non-Rare Developmental Anomalies During Embryogenesis |
3 |
| 76 |
|
OBS251 |
Obsolete: Embryonary Disorganization Syndrome |
2 |
| 77 |
|
OBS547 |
Obsolete: Idiopathic Hydrops Fetalis |
2 |
| 78 |
|
FTL025 |
Fetal Parainfluenza Virus Type 3 Syndrome |
1 |
| 79 |
|
FTL027 |
Fetal Phenothiazine Syndrome |
1 |
| 80 |
|
KPS004 |
Kaposi Sarcoma |
75 |
| 81 |
P
|
OST001 |
Osteopetrosis |
70 |
| 82 |
P
|
HYD006 |
Hydrocephalus |
68 |
| 83 |
P
|
PSD087 |
Pseudoxanthoma Elasticum |
67 |
| 84 |
P
|
CTR002 |
Cataract |
62 |
| 85 |
c
|
HYP604 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
62 |
| 86 |
|
GRG001 |
Greig Cephalopolysyndactyly Syndrome |
61 |
| 87 |
|
LCR014 |
Lacrimoauriculodentodigital Syndrome |
61 |
| 88 |
|
TKY002 |
Takayasu Arteritis |
61 |
| 89 |
|
RBR001 |
Roberts Syndrome |
61 |
| 90 |
P
|
CTS001 |
Cutis Laxa |
60 |
| 91 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
60 |
| 92 |
P
|
SYP003 |
Syphilis |
59 |
| 93 |
P
|
PLY006 |
Polydactyly |
58 |
| 94 |
|
NWB001 |
Newborn Respiratory Distress Syndrome |
58 |
| 95 |
|
DNN002 |
Donnai-Barrow Syndrome |
57 |
| 96 |
P
|
SLV001 |
Silver-Russell Syndrome |
55 |
| 97 |
c
|
GLC097 |
Glaucoma 3, Primary Congenital, a |
55 |
| 98 |
|
FRY006 |
Fryns Microphthalmia Syndrome |
55 |
| 99 |
|
WVR001 |
Weaver Syndrome |
54 |
| 100 |
P
|
HYP050 |
Hyperinsulinemic Hypoglycemia |
54 |
| 101 |
c
|
BRC078 |
Brachydactyly, Type A1 |
54 |
| 102 |
P
|
MTR003 |
Mitral Valve Stenosis |
54 |
| 103 |
|
BRN003 |
Branchiooculofacial Syndrome |
54 |
| 104 |
|
OLG003 |
Oligohydramnios |
53 |
| 105 |
|
MGL038 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
53 |
| 106 |
P
|
VND007 |
Van Der Woude Syndrome 1 |
52 |
| 107 |
c
|
BRC051 |
Brachydactyly, Type B1 |
51 |
| 108 |
|
OVR082 |
Overgrowth Syndrome |
51 |
| 109 |
c
|
HYP304 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
51 |
| 110 |
|
CHR005 |
Chorioamnionitis |
51 |
| 111 |
P
|
SYR001 |
Syringomyelia |
51 |
| 112 |
c
|
HYP601 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
51 |
| 113 |
P
|
OMP004 |
Omphalocele |
51 |
| 114 |
c
|
PST041 |
Posterior Urethral Valves |
50 |
| 115 |
P
|
NNT009 |
Neonatal Diabetes Mellitus |
50 |
| 116 |
c
|
SMP007 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
49 |
| 117 |
|
TRC109 |
Tracheoesophageal Fistula with or Without Esophageal Atresia |
49 |
| 118 |
P
|
FRN012 |
Frontometaphyseal Dysplasia |
49 |
| 119 |
|
47X002 |
47,xyy |
49 |
| 120 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
49 |
| 121 |
|
HYL004 |
Hyaline Fibromatosis Syndrome |
49 |
| 122 |
|
TRC062 |
Tricuspid Atresia |
49 |
| 123 |
|
JHN001 |
Johanson-Blizzard Syndrome |
49 |
| 124 |
|
KBG001 |
Kbg Syndrome |
49 |
| 125 |
|
PLY012 |
Polyhydramnios |
48 |
| 126 |
|
NNT012 |
Neonatal Jaundice |
48 |
| 127 |
c
|
SPN297 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
48 |
| 128 |
|
MTP034 |
Metaphyseal Chondrodysplasia, Jansen Type |
48 |
| 129 |
c
|
ICH069 |
Ichthyosis, Congenital, Autosomal Recessive 4b |
48 |
| 130 |
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
48 |
| 131 |
|
PLM041 |
Pulmonary Valve Stenosis |
48 |
| 132 |
|
PLC007 |
Placental Abruption |
47 |
| 133 |
c
|
HYD019 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
47 |
| 134 |
|
HMH004 |
Hemihyperplasia, Isolated |
47 |
| 135 |
P
|
DNR001 |
Duane Retraction Syndrome |
47 |
| 136 |
P
|
SMP003 |
Simpson-Golabi-Behmel Syndrome |
47 |
| 137 |
c
|
SPN310 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
47 |
| 138 |
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
46 |
| 139 |
P
|
HRN001 |
Horner's Syndrome |
46 |
| 140 |
P
|
KLF001 |
Kleefstra Syndrome |
46 |
| 141 |
P
|
SXD002 |
Sex Development Disorder |
45 |
| 142 |
|
MLY008 |
Molybdenum Cofactor Deficiency, Complementation Group a |
45 |
| 143 |
P
|
MGL030 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
45 |
| 144 |
c
|
HYP271 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
45 |
| 145 |
|
PTC002 |
Potocki-Lupski Syndrome |
45 |
| 146 |
P
|
SPN081 |
Spondylocostal Dysostosis, Autosomal Recessive |
45 |
| 147 |
|
CYN002 |
Cyanosis, Transient Neonatal |
45 |
| 148 |
|
THR009 |
Thrombocytopenia-Absent Radius Syndrome |
44 |
| 149 |
|
SHR098 |
Short-Rib Thoracic Dysplasia 12 |
44 |
| 150 |
P
|
OCY003 |
Oocyte Maturation Defect 1 |
44 |
| 151 |
|
PLC001 |
Placenta Accreta |
44 |
| 152 |
|
TRN044 |
Transposition of the Great Arteries |
44 |
| 153 |
|
RNS001 |
Raine Syndrome |
43 |
| 154 |
|
DYS018 |
Dysostosis |
43 |
| 155 |
c
|
LSS006 |
Lissencephaly 2 |
43 |
| 156 |
|
LYM029 |
Lymphedema-Distichiasis Syndrome |
43 |
| 157 |
|
DBT090 |
Diabetes and Deafness, Maternally Inherited |
43 |
| 158 |
c
|
RNG023 |
Ring Chromosome 7 |
43 |
| 159 |
P
|
RNG032 |
Ring Chromosome |
43 |
| 160 |
c
|
WRD031 |
Waardenburg Syndrome, Type 3 |
43 |
| 161 |
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
43 |
| 162 |
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
42 |
| 163 |
c
|
PRM032 |
Primary Congenital Glaucoma |
42 |
| 164 |
c
|
OST129 |
Osteopetrosis, Autosomal Recessive 2 |
42 |
| 165 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
41 |
| 166 |
|
GNT031 |
Genitopatellar Syndrome |
41 |
| 167 |
|
HYP332 |
Hypotrichosis, Congenital, with Juvenile Macular Dystrophy |
41 |
| 168 |
|
PLY100 |
Polyploidy |
41 |
| 169 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
40 |
| 170 |
|
MLT162 |
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects |
40 |
| 171 |
c
|
DNR003 |
Duane Retraction Syndrome 1 |
40 |
| 172 |
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
40 |
| 173 |
c
|
TRN032 |
Transient Neonatal Diabetes Mellitus |
40 |
| 174 |
|
PLL008 |
Pallister-Killian Syndrome |
39 |
| 175 |
|
CLF053 |
Cleft Palate with or Without Ankyloglossia, X-Linked |
39 |
| 176 |
c
|
OST126 |
Osteopetrosis, Autosomal Recessive 1 |
39 |
| 177 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
39 |
| 178 |
|
SCR035 |
Sacral Agenesis with Vertebral Anomalies |
39 |
| 179 |
|
MLL009 |
Mullerian Aplasia |
39 |
| 180 |
|
HYP223 |
Hypoplastic Right Heart Syndrome |
38 |
| 181 |
c
|
CTR096 |
Cataract 6, Multiple Types |
38 |
| 182 |
P
|
PLY148 |
Polydactyly, Preaxial Ii |
38 |
| 183 |
|
THR017 |
Thoracoabdominal Syndrome |
38 |
| 184 |
c
|
CTR130 |
Cataract 9, Multiple Types |
38 |
| 185 |
c
|
CNG033 |
Congenital Syphilis |
38 |
| 186 |
c
|
XFP001 |
Xfe Progeroid Syndrome |
38 |
| 187 |
c
|
KLF004 |
Kleefstra Syndrome 1 |
38 |
| 188 |
c
|
CTR103 |
Cataract 4, Multiple Types |
38 |
| 189 |
c
|
SCN006 |
Secondary Syphilis |
38 |
| 190 |
c
|
HYP349 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
38 |
| 191 |
c
|
SYN084 |
Synpolydactyly 1 |
38 |
| 192 |
|
KFM001 |
Kaufman Oculocerebrofacial Syndrome |
38 |
| 193 |
|
SHR120 |
Short Rib-Polydactyly Syndrome, Majewski Type |
37 |
| 194 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
37 |
| 195 |
|
48X005 |
48,xyyy |
37 |
| 196 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
37 |
| 197 |
P
|
LSS024 |
Lissencephaly with Cerebellar Hypoplasia |
37 |
| 198 |
|
HYP636 |
Hypocalcemic Vitamin D-Dependent Rickets |
37 |
| 199 |
|
ALB014 |
Alobar Holoprosencephaly |
37 |
| 200 |
c
|
MYS044 |
Myasthenic Syndrome, Congenital, 7, Presynaptic |
37 |
| 201 |
|
TBH001 |
Tibia, Hypoplasia or Aplasia of, with Polydactyly |
36 |
| 202 |
|
CHR518 |
Chromosome 9p Deletion Syndrome |
36 |
| 203 |
|
DSR012 |
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency |
36 |
| 204 |
|
PRT048 |
Partial Atrioventricular Canal |
36 |
| 205 |
|
RVL002 |
Ruvalcaba Syndrome |
36 |
| 206 |
|
SYN063 |
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction |
36 |
| 207 |
|
KGM001 |
Kagami-Ogata Syndrome |
36 |
| 208 |
|
CHR667 |
Chromosome 3pter-P25 Deletion Syndrome |
36 |
| 209 |
c
|
RBN020 |
Robinow Syndrome, Autosomal Dominant 3 |
36 |
| 210 |
P
|
SYN059 |
Syndactyly, Type V |
36 |
| 211 |
c
|
RHZ015 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
35 |
| 212 |
|
PLC009 |
Placenta Praevia |
35 |
| 213 |
c
|
CTR141 |
Cataract 21, Multiple Types |
35 |
| 214 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
35 |
| 215 |
|
PLT007 |
Palatopharyngeal Incompetence |
35 |
| 216 |
c
|
CTR118 |
Cataract 14, Multiple Types |
35 |
| 217 |
c
|
CTR170 |
Cataract 30, Multiple Types |
35 |
| 218 |
|
FCL090 |
Facial Cleft |
35 |
| 219 |
c
|
CTR174 |
Cataract 40 |
35 |
| 220 |
c
|
CTR122 |
Cataract 5, Multiple Types |
35 |
| 221 |
c
|
CTR115 |
Cataract 16, Multiple Types |
35 |
| 222 |
|
BRC004 |
Brachydactyly-Syndactyly Syndrome |
35 |
| 223 |
P
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
35 |
| 224 |
c
|
FRN049 |
Frontometaphyseal Dysplasia 1 |
34 |
| 225 |
|
CLF028 |
Cleft Soft Palate |
34 |
| 226 |
|
MDL020 |
Midline Interhemispheric Variant of Holoprosencephaly |
34 |
| 227 |
c
|
RNG020 |
Ring Chromosome 4 |
34 |
| 228 |
c
|
SMP005 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
34 |
| 229 |
c
|
CTR145 |
Cataract 44 |
34 |
| 230 |
|
PRT049 |
Partial Deletion of Y |
34 |
| 231 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
34 |
| 232 |
|
PTC001 |
Potocki-Shaffer Syndrome |
34 |
| 233 |
|
MCR096 |
Macrocephaly/autism Syndrome |
34 |
| 234 |
|
CHR377 |
Chromosome 10q26 Deletion Syndrome |
34 |
| 235 |
c
|
RNG004 |
Ring Chromosome 1 |
34 |
| 236 |
P
|
MXD016 |
Mixed Gonadal Dysgenesis |
34 |
| 237 |
|
ELS006 |
Elsahy-Waters Syndrome |
34 |
| 238 |
c
|
MNS014 |
Monosomy 22 |
33 |
| 239 |
|
NNT004 |
Neonatal Respiratory Failure |
33 |
| 240 |
|
MCR099 |
Microlissencephaly |
33 |
| 241 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
33 |
| 242 |
c
|
STS007 |
Sotos Syndrome 2 |
32 |
| 243 |
|
CRB147 |
Cerebellofaciodental Syndrome |
32 |
| 244 |
P
|
46X071 |
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect |
32 |
| 245 |
|
EMN001 |
Emanuel Syndrome |
32 |
| 246 |
|
INF021 |
Infant Gynecomastia |
32 |
| 247 |
|
JBR005 |
Joubert Syndrome with Ocular Anomalies |
32 |
| 248 |
c
|
VCT004 |
Vacterl Association with Hydrocephalus |
32 |
| 249 |
|
CHR589 |
Chromosome 17p13.3, Centromeric, Duplication Syndrome |
32 |
| 250 |
c
|
CTR129 |
Cataract 31, Multiple Types |
31 |
| 251 |
|
MLR023 |
Melorheostosis, Isolated |
31 |
| 252 |
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
31 |
| 253 |
P
|
AML065 |
Amelia |
31 |
| 254 |
c
|
ANT083 |
Anterior Segment Dysgenesis 7 |
31 |
| 255 |
|
ISL096 |
Isolated Klippel-Feil Syndrome |
31 |
| 256 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
31 |
| 257 |
|
PYR018 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
31 |
| 258 |
|
NNT005 |
Neonatal Candidiasis |
31 |
| 259 |
|
HYD048 |
Hydrocephalus with Stenosis of the Aqueduct of Sylvius |
30 |
| 260 |
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
30 |
| 261 |
|
PLM151 |
Pulmonary Arteriovenous Fistulas |
30 |
| 262 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
30 |
| 263 |
c
|
PRM022 |
Primary Syphilis |
30 |
| 264 |
|
MCR302 |
Macrostomia, Isolated |
30 |
| 265 |
P
|
SCL047 |
Sclerocornea |
30 |
| 266 |
|
LMB010 |
Lambert Syndrome |
30 |
| 267 |
|
ZTT001 |
Zttk Syndrome |
29 |
| 268 |
|
ATR088 |
Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects |
29 |
| 269 |
P
|
CRN249 |
Cornea Plana |
29 |
| 270 |
c
|
RNG008 |
Ring Chromosome 13 |
29 |
| 271 |
|
PLM059 |
Pulmonary Atresia with Ventricular Septal Defect |
29 |
| 272 |
|
ANR010 |
Aneurysm of Sinus of Valsalva |
29 |
| 273 |
c
|
CTR181 |
Cataract 18 |
29 |
| 274 |
P
|
ACR106 |
Acrocephalopolysyndactyly Type Iii |
29 |
| 275 |
c
|
ERL012 |
Early-Onset Glaucoma |
29 |
| 276 |
c
|
CTR095 |
Cataract 8, Multiple Types |
29 |
| 277 |
c
|
FRN048 |
Frontometaphyseal Dysplasia 2 |
28 |
| 278 |
|
MSC021 |
Mosaic Trisomy 9 |
28 |
| 279 |
|
ATS391 |
Autosomal Recessive Cutis Laxa Type Ii Classic Type |
28 |
| 280 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
28 |
| 281 |
|
DST008 |
Diastematomyelia |
28 |
| 282 |
c
|
DBT064 |
Diabetes Mellitus, Transient Neonatal, 1 |
28 |
| 283 |
c
|
CTR175 |
Cataract 24 |
28 |
| 284 |
|
ATY016 |
Atypical Werner Syndrome |
28 |
| 285 |
c
|
CTR166 |
Cataract 33, Multiple Types |
28 |
| 286 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
28 |
| 287 |
c
|
CTR113 |
Cataract 11, Multiple Types |
28 |
| 288 |
c
|
RNG016 |
Ring Chromosome 20 |
28 |
| 289 |
|
CMP035 |
Complete Atrioventricular Canal |
28 |
| 290 |
|
SPN125 |
Spondyloenchondrodysplasia |
28 |
| 291 |
|
49X001 |
49, Xxxxx |
28 |
| 292 |
|
TBL008 |
Tibial Hemimelia |
27 |
| 293 |
|
CHR270 |
Chromosome 9p Duplication |
27 |
| 294 |
|
TTR014 |
Tetrasomy 18p |
27 |
| 295 |
|
CRL006 |
Caroli Disease, Isolated |
27 |
| 296 |
P
|
PRG139 |
Progeroid Syndrome |
27 |
| 297 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
27 |
| 298 |
c
|
CTR158 |
Cataract 37 |
27 |
| 299 |
|
TTR012 |
Tetrasomy 9p |
27 |
| 300 |
|
CRN264 |
Craniosynostosis with Fibular Aplasia |
27 |
| 301 |
c
|
OST120 |
Osteopetrosis, Autosomal Recessive 5 |
27 |
| 302 |
|
PSD046 |
Pseudotrisomy 13 Syndrome |
27 |
| 303 |
c
|
OST137 |
Osteopetrosis, Autosomal Recessive 4 |
27 |
| 304 |
c
|
ERL002 |
Early Congenital Syphilis |
27 |
| 305 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
27 |
| 306 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
27 |
| 307 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
26 |
| 308 |
|
ATY022 |
Atypical Coarctation of Aorta |
26 |
| 309 |
|
UTR054 |
Uterine Hypoplasia |
26 |
| 310 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
26 |
| 311 |
c
|
CTR180 |
Cataract 22, Multiple Types |
26 |
| 312 |
|
FRN022 |
Frontofacionasal Dysplasia |
26 |
| 313 |
|
CLF046 |
Cleft Lip/palate with Abnormal Thumbs and Microcephaly |
26 |
| 314 |
|
CMP097 |
Complex Chromosomal Rearrangement |
26 |
| 315 |
c
|
PK3004 |
Pik3ca-Related Overgrowth Spectrum |
26 |
| 316 |
c
|
RNG017 |
Ring Chromosome 21 |
26 |
| 317 |
c
|
ACQ027 |
Acquired Cutis Laxa |
26 |
| 318 |
|
CHR588 |
Chromosome 8q22.1 Duplication Syndrome |
26 |
| 319 |
|
CHR524 |
Chromosome 16p13.3 Duplication Syndrome |
26 |
| 320 |
|
CHR268 |
Chromosome 8q Duplication |
26 |
| 321 |
c
|
FRN032 |
Frontonasal Dysplasia 3 |
26 |
| 322 |
c
|
RNG007 |
Ring Chromosome 12 |
25 |
| 323 |
|
MSC016 |
Mosaic Trisomy 14 |
25 |
| 324 |
c
|
DNR004 |
Duane Retraction Syndrome 2 |
25 |
| 325 |
c
|
CLR135 |
Ciliary Dyskinesia, Primary, 7 |
25 |
| 326 |
c
|
FRN037 |
Frontal Encephalocele |
25 |
| 327 |
|
BRC091 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
25 |
| 328 |
P
|
TRS029 |
Trisomy 1q |
25 |
| 329 |
|
TRC110 |
Tracheobronchial Stenosis, Congenital |
25 |
| 330 |
|
DPH012 |
Diphallia |
25 |
| 331 |
|
RCM003 |
Recombinant Chromosome 8 Syndrome |
25 |
| 332 |
|
OCL040 |
Oculomaxillofacial Dysostosis |
25 |
| 333 |
P
|
UNP013 |
Uniparental Disomy of Chromosome 1 |
25 |
| 334 |
c
|
LTC001 |
Late Congenital Syphilis |
25 |
| 335 |
|
MYM012 |
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism |
25 |
| 336 |
P
|
BLT016 |
Bilateral Polymicrogyria |
25 |
| 337 |
|
BCR002 |
Bicornuate Uterus |
25 |
| 338 |
c
|
SPN307 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
25 |
| 339 |
c
|
TYP003 |
Type I Ehlers-Danlos Syndrome |
25 |
| 340 |
|
KPR003 |
Keipert Syndrome |
25 |
| 341 |
|
PLY110 |
Polymicrogyria, Bilateral Temporooccipital |
25 |
| 342 |
c
|
RNG013 |
Ring Chromosome 18 |
25 |
| 343 |
c
|
MGL028 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
25 |
| 344 |
|
EPP020 |
Epiphyseal Dysplasia, Microcephaly, and Nystagmus |
24 |
| 345 |
c
|
HYD040 |
Hydrolethalus Syndrome 2 |
24 |
| 346 |
|
PRT131 |
Partial Trisomy Distal 4q |
24 |
| 347 |
c
|
CTR131 |
Cataract 17, Multiple Types |
24 |
| 348 |
P
|
VCT008 |
Vacterl with Hydrocephalus |
24 |
| 349 |
c
|
VND004 |
Van Der Woude Syndrome 2 |
24 |
| 350 |
|
MCR067 |
Microcoria, Congenital |
24 |
| 351 |
c
|
CTR111 |
Cataract 36 |
24 |
| 352 |
|
ASS004 |
Aase-Smith Syndrome I |
24 |
| 353 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
| 354 |
|
PNS015 |
Penoscrotal Transposition |
24 |
| 355 |
|
CHR487 |
Chromosome 8q21.11 Deletion Syndrome |
24 |
| 356 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
24 |
| 357 |
|
CHR502 |
Chromosome 17q12 Duplication Syndrome |
24 |
| 358 |
P
|
SPN236 |
Spina Bifida Cystica |
24 |
| 359 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
24 |
| 360 |
c
|
SYN140 |
Syndrome with 46,xy Disorder of Sex Development |
23 |
| 361 |
c
|
CTR136 |
Cataract 41 |
23 |
| 362 |
c
|
CTR110 |
Cataract 26, Multiple Types |
23 |
| 363 |
c
|
OST106 |
Osteopetrosis, Autosomal Recessive 8 |
23 |
| 364 |
c
|
SYN088 |
Synpolydactyly 2 |
23 |
| 365 |
c
|
CTR183 |
Cataract 38 |
23 |
| 366 |
|
HML054 |
Hemolytic Disease Due to Fetomaternal Alloimmunization |
23 |
| 367 |
c
|
DBT013 |
Diabetes Mellitus, 6q24-Related Transient Neonatal |
23 |
| 368 |
|
TTR021 |
Tetrasomy 21 |
23 |
| 369 |
|
CHR393 |
Chromosome 19p13.13 Deletion Syndrome |
23 |
| 370 |
|
48X002 |
48,xxxy Syndrome |
23 |
| 371 |
c
|
CTR125 |
Cataract 7 |
23 |
| 372 |
c
|
MGL029 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
23 |
| 373 |
c
|
MYS082 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
23 |
| 374 |
|
MMM002 |
Mammary-Digital-Nail Syndrome |
23 |
| 375 |
|
DVL022 |
Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair |
23 |
| 376 |
|
FMR017 |
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly |
23 |
| 377 |
|
FBL010 |
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome |
23 |
| 378 |
c
|
FCL056 |
Facial Paresis, Hereditary Congenital, 3 |
22 |
| 379 |
c
|
SPN215 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
22 |
| 380 |
c
|
CTR162 |
Cataract 47 |
22 |
| 381 |
c
|
CRB209 |
Cerebellar Malformation |
22 |
| 382 |
|
PLY116 |
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis |
22 |
| 383 |
|
PRP101 |
Peripheral Pulmonary Stenosis |
22 |
| 384 |
|
SPN141 |
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech |
22 |
| 385 |
c
|
CTR169 |
Cataract 29 |
22 |
| 386 |
|
MCR310 |
Microgastria-Limb Reduction Defects Association |
22 |
| 387 |
|
DFF022 |
Diffuse Neonatal Hemangiomatosis |
22 |
| 388 |
|
HYP212 |
Hypomandibular Faciocranial Dysostosis |
22 |
| 389 |
|
SYM024 |
Symphalangism, Distal |
22 |
| 390 |
|
CHR457 |
Chromosome 17p13.1 Deletion Syndrome |
22 |
| 391 |
|
SPN365 |
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies |
22 |
| 392 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
| 393 |
|
ADD006 |
Adducted Thumbs Syndrome |
22 |
| 394 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
22 |
| 395 |
c
|
APR009 |
Aprosencephaly Syndrome |
22 |
| 396 |
c
|
PLY137 |
Polydactyly, Preaxial Iii |
22 |
| 397 |
|
LMB014 |
Limb-Body Wall Complex |
22 |
| 398 |
|
PLY135 |
Polydactyly, Postaxial, with Progressive Myopia |
22 |
| 399 |
|
CHR266 |
Chromosome 8p23.1 Deletion |
22 |
| 400 |
c
|
DBT044 |
Diabetes Mellitus, Transient Neonatal, 3 |
22 |
| 401 |
|
CRB062 |
Cerebellar Hypoplasia with Endosteal Sclerosis |
22 |
| 402 |
c
|
CTR187 |
Cataract 48 |
22 |
| 403 |
|
CLB011 |
Coloboma of Macula with Type B Brachydactyly |
22 |
| 404 |
|
CHR620 |
Chromosome 16p11.2 Deletion Syndrome, 220-Kb |
21 |
| 405 |
c
|
OMP009 |
Omphalocele, Autosomal |
21 |
| 406 |
|
MSL005 |
Mseleni Joint Disease |
21 |
| 407 |
c
|
CTR163 |
Cataract 46, Juvenile-Onset |
21 |
| 408 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
21 |
| 409 |
|
SCH025 |
Schisis Association |
21 |
| 410 |
|
PHK008 |
Phakomatosis Cesioflammea |
21 |
| 411 |
|
EXT062 |
Extracranial Carotid Artery Aneurysm |
21 |
| 412 |
c
|
BRC053 |
Brachyolmia Type 2 |
21 |
| 413 |
|
BRN123 |
Branchial Arch Syndrome, X-Linked |
21 |
| 414 |
|
DND013 |
Dandy-Walker Malformation with Postaxial Polydactyly |
21 |
| 415 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
21 |
| 416 |
|
CHR610 |
Chromosome 10q22.3-Q23.2 Deletion Syndrome |
21 |
| 417 |
c
|
OST171 |
Osteopetrosis, Autosomal Dominant 3 |
21 |
| 418 |
|
CHR616 |
Chromosome 19q13.11 Deletion Syndrome, Distal |
21 |
| 419 |
|
SPN361 |
Spondylometaphyseal Dysplasia, Algerian Type |
21 |
| 420 |
c
|
HRN024 |
Horner Syndrome, Congenital |
21 |
| 421 |
c
|
45X001 |
45,x/46,xy Mixed Gonadal Dysgenesis |
21 |
| 422 |
c
|
46X011 |
46, Xy Disorders of Sexual Development |
20 |
| 423 |
c
|
SPN417 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
20 |
| 424 |
|
DPL007 |
Duplication of Urethra |
20 |
| 425 |
|
QDR002 |
Quadricuspid Aortic Valve |
20 |
| 426 |
c
|
LSS030 |
Lissencephaly 7 with Cerebellar Hypoplasia |
20 |
| 427 |
|
CMP039 |
Camptodactyly 1 |
20 |
| 428 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
20 |
| 429 |
c
|
CTR119 |
Cataract 32, Multiple Types |
20 |
| 430 |
|
CRN311 |
Coronary Ostial Stenosis or Atresia |
20 |
| 431 |
c
|
CTR144 |
Cataract 43 |
20 |
| 432 |
|
8P2002 |
8p23.1 Duplication Syndrome |
20 |
| 433 |
c
|
ANT087 |
Anterior Segment Dysgenesis 6 |
20 |
| 434 |
c
|
CTR159 |
Cataract 35 |
20 |
| 435 |
|
ULN005 |
Ulna and Fibula, Hypoplasia of |
20 |
| 436 |
|
SPL055 |
Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts |
20 |
| 437 |
|
ISL084 |
Isolated Trigonocephaly |
20 |
| 438 |
c
|
CTR097 |
Cataract 34, Multiple Types |
20 |
| 439 |
P
|
CHR200 |
Chromosome 16 Trisomy |
20 |
| 440 |
|
ATK002 |
Atkin-Flaitz Syndrome |
20 |
| 441 |
c
|
CTR185 |
Cataract 30 |
20 |
| 442 |
|
ACH039 |
Achalasia-Microcephaly Syndrome |
20 |
| 443 |
c
|
RNG012 |
Ring Chromosome 17 |
20 |
| 444 |
|
ANL024 |
Anal Atresia, Hypospadias, and Penoscrotal Inversion |
20 |
| 445 |
c
|
CTR106 |
Cataract 20, Multiple Types |
20 |
| 446 |
c
|
CTR139 |
Cataract 42 |
20 |
| 447 |
|
PTL010 |
Patella Aplasia-Hypoplasia |
19 |
| 448 |
|
CHR507 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
19 |
| 449 |
|
FMR013 |
Femoral Agenesis/hypoplasia |
19 |
| 450 |
|
CHR368 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
19 |
| 451 |
c
|
SCN048 |
Secondary Syringomyelia |
19 |
| 452 |
c
|
OCY002 |
Oocyte Maturation Defect 2 |
19 |
| 453 |
|
CHN067 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
19 |
| 454 |
c
|
FCL030 |
Facial Paresis, Hereditary Congenital, 1 |
19 |
| 455 |
|
NSL020 |
Nasal Glial Heterotopia |
19 |
| 456 |
c
|
OCY005 |
Oocyte Maturation Defect 4 |
19 |
| 457 |
c
|
CTR160 |
Cataract 45 |
19 |
| 458 |
|
CHR182 |
Chromosome 10p Duplication |
19 |
| 459 |
|
FBR087 |
Fibromatosis, Gingival, with Distinctive Facies |
19 |
| 460 |
|
MSC019 |
Mosaic Trisomy 7 |
19 |
| 461 |
P
|
PTR018 |
Paternal Uniparental Disomy of Chromosome 6 |
19 |
| 462 |
c
|
CMP071 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
19 |
| 463 |
c
|
CTR121 |
Cataract 25 |
19 |
| 464 |
c
|
UNP012 |
Uniparental Disomy of Chromosome 7 |
19 |
| 465 |
|
CNG009 |
Congenital Aortic Valve Stenosis |
19 |
| 466 |
c
|
ART158 |
Arthrogryposis Multiplex Congenita, Myogenic Type |
19 |
| 467 |
|
XLN086 |
X-Linked Ehlers-Danlos Syndrome |
19 |
| 468 |
c
|
ACR108 |
Acrocephalopolysyndactyly Type Iv |
19 |
| 469 |
|
CLR127 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
19 |
| 470 |
|
CRV063 |
Cervical Spina Bifida Aperta |
19 |
| 471 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
18 |
| 472 |
|
MYL044 |
Myelocystocele |
18 |
| 473 |
|
XQ2003 |
Xq25 Duplication Syndrome |
18 |
| 474 |
|
SCL051 |
Scalp Defects and Postaxial Polydactyly |
18 |
| 475 |
|
6QT002 |
6q Terminal Deletion Syndrome |
18 |
| 476 |
|
SMM003 |
Summitt Syndrome |
18 |
| 477 |
|
DST044 |
Distal Trisomy 14q |
18 |
| 478 |
P
|
HRD043 |
Hereditary Congenital Facial Paresis |
18 |
| 479 |
|
OMP008 |
Omphalocele-Cleft Palate Syndrome, Lethal |
18 |
| 480 |
|
BRC098 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
18 |
| 481 |
|
CHR416 |
Chromosome 17q Deletion |
18 |
| 482 |
|
2Q3005 |
2q31.1 Microdeletion Syndrome |
18 |
| 483 |
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
18 |
| 484 |
c
|
HYD042 |
Hydrocephalus, Autosomal Dominant |
18 |
| 485 |
c
|
DBT098 |
Diabetes Mellitus, Transient Neonatal, 2 |
18 |
| 486 |
|
VRR008 |
Verrucous Hemangioma |
18 |
| 487 |
c
|
CTR178 |
Cataract 27 |
18 |
| 488 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
18 |
| 489 |
c
|
CTR157 |
Cataract 28 |
18 |
| 490 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
18 |
| 491 |
|
ECT069 |
Ectodermal Dysplasia 8, Hair/tooth/nail Type |
18 |
| 492 |
|
CHR584 |
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-Mb |
18 |
| 493 |
|
MCR311 |
Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome |
18 |
| 494 |
c
|
SYN040 |
Synpolydactyly 3 |
17 |
| 495 |
|
CNG491 |
Congenital Portosystemic Shunt |
17 |
| 496 |
|
PLM067 |
Pulmonary Valves Agenesis |
17 |
| 497 |
|
DYS134 |
Dysspondyloenchondromatosis |
17 |
| 498 |
|
BLP042 |
Blepharoptosis, Myopia, and Ectopia Lentis |
17 |
| 499 |
|
WLS002 |
Wilson-Mikity Syndrome |
17 |
| 500 |
|
SXC007 |
Sex-Chromosome Anomaly |
17 |
| 501 |
|
THR109 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
17 |
| 502 |
|
CRV061 |
Cervicothoracic Spina Bifida Cystica |
17 |
| 503 |
|
THR084 |
Thoracolumbosacral Spina Bifida Cystica |
17 |
| 504 |
c
|
TTL008 |
Total Spina Bifida Cystica |
17 |
| 505 |
c
|
OCY006 |
Oocyte Maturation Defect 5 |
17 |
| 506 |
c
|
OCY007 |
Oocyte Maturation Defect 6 |
17 |
| 507 |
|
RTF001 |
Retiform Hemangioendothelioma |
17 |
| 508 |
P
|
XKP001 |
Xk Aprosencephaly |
17 |
| 509 |
|
EDN001 |
Edinburgh Malformation Syndrome |
17 |
| 510 |
|
CXR001 |
Coxoauricular Syndrome |
17 |
| 511 |
|
BRC094 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
17 |
| 512 |
|
MLT148 |
Multiple Pterygium Syndrome, X-Linked |
17 |
| 513 |
|
CRN192 |
Craniorhiny |
17 |
| 514 |
c
|
CTR128 |
Cataract 33 |
17 |
| 515 |
|
MCD004 |
Macdermot-Winter Syndrome |
17 |
| 516 |
|
SPN243 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
17 |
| 517 |
|
SLF012 |
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency |
17 |
| 518 |
c
|
UNP011 |
Uniparental Disomy of Chromosome 14 |
17 |
| 519 |
|
BLP011 |
Blepharophimosis with Ptosis, Syndactyly, and Short Stature |
17 |
| 520 |
|
ESS005 |
Essential Iris Atrophy |
16 |
| 521 |
|
PLY133 |
Polysyndactyly with Cardiac Malformation |
16 |
| 522 |
|
CNT104 |
Contractures, Congenital, Torticollis, and Malignant Hyperthermia |
16 |
| 523 |
|
PTN011 |
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies |
16 |
| 524 |
|
TRN017 |
Transient Neonatal Neutropenia |
16 |
| 525 |
|
1Q4001 |
1q44 Microdeletion Syndrome |
16 |
| 526 |
|
DST045 |
Distal Trisomy 6p |
16 |
| 527 |
|
16P004 |
16p13.11 Microduplication Syndrome |
16 |
| 528 |
c
|
CNG596 |
Congenital Ectropion |
16 |
| 529 |
c
|
BRC035 |
Brachydactyly Type A5 |
16 |
| 530 |
|
FCL064 |
Facial Dysmorphism with Multiple Malformations |
16 |
| 531 |
|
WHT005 |
White Forelock with Malformations |
16 |
| 532 |
|
CRN308 |
Coronary Arterial Fistula |
16 |
| 533 |
c
|
CNT108 |
Central Polydactyly |
16 |
| 534 |
|
CLB008 |
Coloboma of Eye Lens |
16 |
| 535 |
c
|
CHR180 |
Chromosome 10, Uniparental Disomy |
16 |
| 536 |
|
CTN032 |
Cutaneous Mastocytosis, Conductive Hearing Loss and Microtia |
16 |
| 537 |
|
ISL134 |
Isolated Craniosynostosis |
16 |
| 538 |
|
19P001 |
19p13.12 Microdeletion Syndrome |
16 |
| 539 |
|
RDL029 |
Radial Ray Hypoplasia with Choanal Atresia |
16 |
| 540 |
c
|
GLC052 |
Glaucoma 3, Primary Congenital, C |
16 |
| 541 |
c
|
OCY004 |
Oocyte Maturation Defect 3 |
16 |
| 542 |
|
CLF047 |
Cleft-Limb-Heart Malformation Syndrome |
16 |
| 543 |
c
|
TRC104 |
Trichorhinophalangeal Syndrome Type 1 and 3 |
16 |
| 544 |
|
MDL016 |
Midline Cervical Cleft |
16 |
| 545 |
|
7P2001 |
7p22.1 Microduplication Syndrome |
16 |
| 546 |
c
|
PST093 |
Posterior Hypospadias |
16 |
| 547 |
|
XLN232 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
16 |
| 548 |
|
PLY088 |
Polyvalvular Heart Disease Syndrome |
16 |
| 549 |
c
|
AML053 |
Amelia, Autosomal Recessive |
15 |
| 550 |
c
|
HYD067 |
Hydatidiform Mole, Recurrent, 3 |
15 |
| 551 |
|
THY105 |
Thyrocerebroretinal Syndrome |
15 |
| 552 |
|
APH014 |
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv |
15 |
| 553 |
|
SPN120 |
Spondylocamptodactyly |
15 |
| 554 |
|
DLT013 |
Deletion 5q35 |
15 |
| 555 |
|
CMP016 |
Camptobrachydactyly |
15 |
| 556 |
c
|
UNP008 |
Uniparental Disomy of Chromosome 15 |
15 |
| 557 |
|
SBM006 |
Submucosal Cleft Palate |
15 |
| 558 |
|
PFF010 |
Pfeiffer-Palm-Teller Syndrome |
15 |
| 559 |
|
CNG330 |
Congenital Megacalycosis |
15 |
| 560 |
|
SPN351 |
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition |
15 |
| 561 |
|
DST082 |
Distal Trisomy 10q |
15 |
| 562 |
|
HYP689 |
Hypomelia with Mullerian Duct Anomalies |
15 |
| 563 |
P
|
ZYG003 |
Zygodactyly 1 |
15 |
| 564 |
c
|
SPN122 |
Spondylocostal Dysostosis 2 |
15 |
| 565 |
|
CRD014 |
Cardiac Diverticulum |
15 |
| 566 |
|
ACR078 |
Acral Self-Healing Collodion Baby |
15 |
| 567 |
|
TRN046 |
Transverse Vaginal Septum |
15 |
| 568 |
|
CYS047 |
Cystic Fibrosis, Modifier of, 1 |
15 |
| 569 |
c
|
PRD028 |
Prader-Willi Syndrome Due to Maternal Uniparental Disomy of Chromosome 15 |
15 |
| 570 |
|
PHK006 |
Phakomatosis Pigmentokeratotica |
15 |
| 571 |
|
ALB022 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
15 |
| 572 |
|
MLT147 |
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull |
15 |
| 573 |
|
CRY029 |
Cryptomicrotia-Brachydactyly Syndrome |
15 |
| 574 |
|
INF059 |
Infundibulopelvic Dysgenesis |
15 |
| 575 |
|
PSD091 |
Pseudounicornuate Uterus |
15 |
| 576 |
c
|
FCL050 |
Facial Paresis, Hereditary Congenital, 2 |
15 |
| 577 |
|
ATR018 |
Atrial Septal Defect Ostium Primum |
14 |
| 578 |
c
|
ACQ026 |
Acquired Pseudoxanthoma Elasticum |
14 |
| 579 |
|
PRN057 |
Porencephaly, Cerebellar Hypoplasia, and Internal Malformations |
14 |
| 580 |
|
HMN034 |
Hemangiomas, Cavernous, of Face and Supraumbilical Midline Raphe |
14 |
| 581 |
|
MSC080 |
Mosaic Trisomy 12 |
14 |
| 582 |
|
ANR045 |
Aneurysm of Interventricular Septum |
14 |
| 583 |
|
WHB001 |
Wahab Syndrome |
14 |
| 584 |
c
|
MTR062 |
Maternal Uniparental Disomy of Chromosome 4 |
14 |
| 585 |
|
LNG081 |
Longitudinal Vaginal Septum |
14 |
| 586 |
|
THM021 |
Thumb Deformity and Alopecia |
14 |
| 587 |
P
|
ISL029 |
Isolated Anorectal Malformation |
14 |
| 588 |
|
MTP033 |
Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria |
14 |
| 589 |
c
|
MTR063 |
Maternal Uniparental Disomy of Chromosome 2 |
14 |
| 590 |
|
HYP727 |
Hypoglossia with Situs Inversus |
14 |
| 591 |
|
14Q001 |
14q12 Microdeletion Syndrome |
14 |
| 592 |
c
|
UNP007 |
Uniparental Disomy of Chromosome 6 |
14 |
| 593 |
|
MSC078 |
Mosaic Trisomy 17 |
14 |
| 594 |
|
DSP003 |
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions |
14 |
| 595 |
|
URC012 |
Urachal Sinus |
14 |
| 596 |
|
DST035 |
Distal Trisomy 18q |
14 |
| 597 |
|
URC013 |
Urachal Diverticulum |
13 |
| 598 |
|
IDP017 |
Idiopathic Dilatation of the Pulmonary Artery |
13 |
| 599 |
|
PRT184 |
Partial Deletion of the Long Arm of Chromosome 11 |
13 |
| 600 |
|
TBB005 |
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies |
13 |
| 601 |
P
|
ANT062 |
Anterior Urethral Valve |
13 |
| 602 |
|
3P2001 |
3p25.3 Microdeletion Syndrome |
13 |
| 603 |
|
NND006 |
Non-Distal Monosomy 20q |
13 |
| 604 |
|
BLT009 |
Bilateral Generalized Polymicrogyria |
13 |
| 605 |
c
|
UNP003 |
Uniparental Disomy of Chromosome 11 |
13 |
| 606 |
|
HLL014 |
Hallux Varus and Preaxial Polysyndactyly |
13 |
| 607 |
|
ART097 |
Aorto-Left Ventricular Tunnel |
13 |
| 608 |
|
PST104 |
Postaxial Oligodactyly, Tetramelic |
13 |
| 609 |
|
ULN014 |
Ulnar Hemimelia |
13 |
| 610 |
|
ISL128 |
Isolated Microspherophakia |
13 |
| 611 |
|
1P2001 |
1p21.3 Microdeletion Syndrome |
13 |
| 612 |
c
|
SCL053 |
Sclerocornea, Autosomal Dominant |
12 |
| 613 |
|
CRN204 |
Craniofacial Conodysplasia |
12 |
| 614 |
|
NSL021 |
Nasal Encephalocele |
12 |
| 615 |
|
CRN271 |
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism |
12 |
| 616 |
|
CNS012 |
Cono-Spondylar Dysplasia |
12 |
| 617 |
|
PRT213 |
Partial Duplication of Chromosome 19 |
12 |
| 618 |
|
ACH028 |
Acheiria |
12 |
| 619 |
|
ANN015 |
Anonychia with Flexural Pigmentation |
12 |
| 620 |
|
MND008 |
Mandibular Arteriovenous Malformation |
12 |
| 621 |
c
|
PRM168 |
Primary Syringomyelia |
12 |
| 622 |
|
ACR121 |
Acromelic Dysplasia |
12 |
| 623 |
|
6P2001 |
6p22 Microdeletion Syndrome |
12 |
| 624 |
|
CCH006 |
Cochleosaccular Degeneration with Progressive Cataracts |
12 |
| 625 |
c
|
CNG433 |
Congenital Cornea Plana |
12 |
| 626 |
|
ANN018 |
Anonychia, Total, with Microcephaly |
12 |
| 627 |
|
CNG423 |
Congenital Valvular Dysplasia |
12 |
| 628 |
|
CMP070 |
Complete Atrioventricular Canal-Left Heart Obstruction Syndrome |
12 |
| 629 |
|
HYP852 |
Hypocalcemic Rickets |
12 |
| 630 |
|
PRP103 |
Peripapillary Staphyloma |
12 |
| 631 |
|
MCR358 |
Microcephaly-Corpus Callosum and Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
12 |
| 632 |
c
|
MTR060 |
Maternal Uniparental Disomy of Chromosome 9 |
12 |
| 633 |
c
|
SPN123 |
Spondylocostal Dysostosis 3 |
12 |
| 634 |
c
|
PRD022 |
Prader-Willi Syndrome Due to Paternal Deletion of 15q11q13 Type 1 |
12 |
| 635 |
c
|
ATS448 |
Autosomal Recessive Brachyolmia |
11 |
| 636 |
|
PRT161 |
Partial Deletion of the Short Arm of Chromosome 3 |
11 |
| 637 |
|
MGC005 |
Megacystis-Megaureter Syndrome |
11 |
| 638 |
|
MCR295 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
11 |
| 639 |
|
CNG282 |
Congenital Knee Dislocation |
11 |
| 640 |
|
TRC112 |
Trochlea of the Humerus, Aplasia of |
11 |
| 641 |
|
ANM075 |
Anomalous Aortic Origin of Coronary Artery |
11 |
| 642 |
|
TNN014 |
Tunnel Subaortic Stenosis |
11 |
| 643 |
|
ANM076 |
Anomalous Aortic Origin of the Right Coronary Artery |
11 |
| 644 |
|
16P005 |
16p11.2p12.2 Microduplication Syndrome |
11 |
| 645 |
c
|
SLV022 |
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 |
11 |
| 646 |
|
XLN133 |
X-Linked Intellectual Disability, Shashi Type |
11 |
| 647 |
|
MSC090 |
Mosaic Trisomy 3 |
11 |
| 648 |
|
5Q3001 |
5q35 Microduplication Syndrome |
11 |
| 649 |
c
|
UNP004 |
Uniparental Disomy of Chromosome 2 |
11 |
| 650 |
|
CLF019 |
Cleft Palate Short Stature Vertebral Anomalies |
11 |
| 651 |
|
GZR001 |
Guizar Vasquez Sanchez Manzano Syndrome |
11 |
| 652 |
|
ONY006 |
Onychodystrophy-Anonychia |
11 |
| 653 |
|
SPN435 |
Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia |
11 |
| 654 |
P
|
CNG326 |
Congenital Primary Megaureter |
11 |
| 655 |
|
MSC084 |
Mosaic Genome-Wide Paternal Uniparental Disomy |
11 |
| 656 |
c
|
BCK012 |
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 |
11 |
| 657 |
|
GNN001 |
Genuine Diffuse Phlebectasia |
11 |
| 658 |
c
|
CTR025 |
Cataract, Total Congenital |
11 |
| 659 |
|
HRR003 |
Herrmann Opitz Craniosynostosis |
11 |
| 660 |
|
PRT206 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 9 |
11 |
| 661 |
|
SX2003 |
Six2-Related Frontonasal Dysplasia |
11 |
| 662 |
|
PRT185 |
Partial Deletion of the Long Arm of Chromosome 13 |
11 |
| 663 |
|
PRT163 |
Partial Deletion of the Short Arm of Chromosome 5 |
11 |
| 664 |
|
OSS015 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
11 |
| 665 |
|
SYM015 |
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers |
11 |
| 666 |
|
20Q001 |
20q13.33 Microdeletion Syndrome |
11 |
| 667 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
11 |
| 668 |
|
MSC087 |
Mosaic Trisomy 4 |
11 |
| 669 |
|
CNG279 |
Congenital Pseudoarthrosis of the Ulna |
10 |
| 670 |
|
9Q2003 |
9q21.13 Microdeletion Syndrome |
10 |
| 671 |
|
ABN012 |
Abnormal Origin of Right or Left Pulmonary Artery from the Aorta |
10 |
| 672 |
|
CNG575 |
Congenital Joint Dislocations |
10 |
| 673 |
|
CNG244 |
Congenital Laryngeal Cyst |
10 |
| 674 |
c
|
GLC032 |
Glaucoma, Hereditary |
10 |
| 675 |
|
PRT169 |
Partial Deletion of the Short Arm of Chromosome 11 |
10 |
| 676 |
|
ART130 |
Arthrogryposis with Hyperkeratosis |
10 |
| 677 |
c
|
ZYG005 |
Zygodactyly Type 4 |
10 |
| 678 |
c
|
SPN121 |
Spondylocostal Dysostosis 1 |
10 |
| 679 |
|
LWR014 |
Lower Limb Hypertrophy |
10 |
| 680 |
|
APD003 |
Apodia |
10 |
| 681 |
|
DYS208 |
Dysostosis with Brachydactyly |
10 |
| 682 |
|
PRM302 |
Paramedian Facial Cleft |
10 |
| 683 |
c
|
MTR057 |
Maternal Uniparental Disomy of Chromosome X |
10 |
| 684 |
c
|
CHR232 |
Chromosome 21, Uniparental Disomy |
10 |
| 685 |
|
LWR017 |
Lower Limb Malformation-Hypospadias Syndrome |
10 |
| 686 |
|
PRT200 |
Partial Duplication of the Long Arm of Chromosome 2 |
10 |
| 687 |
|
CRD171 |
Cordiform Uterus |
10 |
| 688 |
c
|
PRD025 |
Prader-Willi Syndrome Due to Imprinting Mutation |
10 |
| 689 |
|
PRT164 |
Partial Deletion of the Short Arm of Chromosome 8 |
10 |
| 690 |
|
XSM001 |
X Small Rings |
10 |
| 691 |
|
PRT167 |
Partial Deletion of the Short Arm of Chromosome 9 |
10 |
| 692 |
|
XQ1001 |
Xq12-Q13.3 Duplication Syndrome |
10 |
| 693 |
|
XLN149 |
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis |
10 |
| 694 |
|
PRT153 |
Partial Deletion of Chromosome 11 |
10 |
| 695 |
|
ART098 |
Aorto-Right Ventricular Tunnel |
10 |
| 696 |
c
|
CHR201 |
Chromosome 16, Uniparental Disomy |
10 |
| 697 |
|
CNG272 |
Congenital Achiasma |
10 |
| 698 |
c
|
ZYG006 |
Zygodactyly Type 2 |
9 |
| 699 |
|
PRT187 |
Partial Duplication of Chromosome X |
9 |
| 700 |
|
ISL047 |
Isolated Unilateral Hemispheric Cerebellar Hypoplasia |
9 |
| 701 |
|
DGS007 |
Digestive Duplication |
9 |
| 702 |
|
DST081 |
Distal Trisomy 11q |
9 |
| 703 |
|
2P2002 |
2p21 Microdeletion Syndrome Without Cystinuria |
9 |
| 704 |
c
|
MTR064 |
Maternal Uniparental Disomy of Chromosome 22 |
9 |
| 705 |
|
HLP030 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
9 |
| 706 |
|
ERL041 |
Early-Onset Zonular Cataract |
9 |
| 707 |
c
|
ATS065 |
Autosomal Dominant Coarctation of Aorta |
9 |
| 708 |
|
PRT145 |
Partial Deletion of Chromosome 3 |
9 |
| 709 |
c
|
SPN124 |
Spondylocostal Dysostosis 4 |
9 |
| 710 |
c
|
UNP010 |
Uniparental Disomy of Chromosome 13 |
9 |
| 711 |
|
BLK004 |
Blake Pouch Cyst |
9 |
| 712 |
|
CNG327 |
Congenital Epstein-Barr Virus Infection |
9 |
| 713 |
|
MLT171 |
Multiple Epiphyseal Dysplasia and Pseudoachondroplasia |
9 |
| 714 |
|
XLN142 |
X-Linked Intellectual Disability, Stevenson Type |
9 |
| 715 |
|
PRT154 |
Partial Deletion of Chromosome 18 |
9 |
| 716 |
|
PRT236 |
Partial Deletion of the Long Arm of Chromosome 15 |
9 |
| 717 |
|
PRT179 |
Partial Deletion of the Long Arm of Chromosome 6 |
9 |
| 718 |
|
MLH001 |
Melhem Fahl Syndrome |
9 |
| 719 |
|
PRT228 |
Partial Duplication of Chromosome 1 |
9 |
| 720 |
c
|
ACQ029 |
Acquired Porencephaly |
9 |
| 721 |
|
PRT231 |
Partial Duplication of Chromosome 4 |
9 |
| 722 |
c
|
PRT205 |
Partial Trisomy of the Long Arm of Chromosome 5 |
9 |
| 723 |
|
AML037 |
Amelia of Upper Limb |
9 |
| 724 |
c
|
SLV019 |
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 |
8 |
| 725 |
c
|
UNP009 |
Uniparental Disomy of Chromosome 20 |
8 |
| 726 |
|
DGS009 |
Digestive Tract Malformation |
8 |
| 727 |
|
PRT166 |
Partial Deletion of the Short Arm of Chromosome 10 |
8 |
| 728 |
|
SYN027 |
Syngnathia Cleft Palate |
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 |
|
BPR001 |
Bipartite Talus |
8 |
| 732 |
|
HMR031 |
Humeral Agenesis/hypoplasia |
8 |
| 733 |
|
CCH007 |
Cochleovestibular Dysplasia |
8 |
| 734 |
|
DBL018 |
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis |
8 |
| 735 |
c
|
PTR015 |
Paternal Uniparental Disomy of Chromosome X |
8 |
| 736 |
|
MTR084 |
Maternal Hyperthermia-Induced Birth Defects |
8 |
| 737 |
|
PRT225 |
Partial Duplication of Chromosome 17 |
8 |
| 738 |
c
|
KRN003 |
Kernicterus Due to Isoimmunization |
8 |
| 739 |
|
MCR294 |
Macrocephaly-Short Stature-Paraplegia Syndrome |
8 |
| 740 |
c
|
PRT182 |
Partial Monosomy of the Long Arm of Chromosome 9 |
8 |
| 741 |
|
PRT238 |
Partial Deletion of the Long Arm of Chromosome 17 |
8 |
| 742 |
|
ISL049 |
Isolated Dandy-Walker Malformation Without Hydrocephalus |
8 |
| 743 |
|
SVR046 |
Severe Lateral Tibial Bowing with Short Stature |
8 |
| 744 |
|
CNG318 |
Congenital Genu Recurvatum |
8 |
| 745 |
|
DNT049 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
8 |
| 746 |
|
OMP003 |
Omphalomesenteric Cyst |
8 |
| 747 |
c
|
OCY008 |
Oocyte Maturation Defect 7 |
8 |
| 748 |
|
PRT226 |
Partial Duplication of Chromosome 16 |
8 |
| 749 |
|
MYP110 |
Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome |
7 |
| 750 |
|
PRT197 |
Partial Duplication of the Long Arm of Chromosome 15 |
7 |
| 751 |
|
PRT203 |
Partial Duplication of the Long Arm of Chromosome 7 |
7 |
| 752 |
|
CNG517 |
Congenital Agenesis of the Scrotum |
7 |
| 753 |
|
NNS055 |
Non-Syndromic Preaxial Polydactyly |
7 |
| 754 |
|
DST084 |
Distal Trisomy 8q |
7 |
| 755 |
|
PRT235 |
Partial Deletion of the Long Arm of Chromosome 14 |
7 |
| 756 |
P
|
ATS109 |
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
7 |
| 757 |
|
LCR016 |
Lacrimal Drainage System Anomaly |
7 |
| 758 |
|
ARC019 |
Arachnodactyly - Intellectual Disability - Dysmorphism |
7 |
| 759 |
|
BNL004 |
Benallegue Lacete Syndrome |
7 |
| 760 |
|
UNC003 |
Unicervical Bicornuate Uterus |
7 |
| 761 |
|
MCR285 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
7 |
| 762 |
|
CHN051 |
Choanal Atresia, Unilateral |
7 |
| 763 |
|
PRT146 |
Partial Deletion of Chromosome 8 |
7 |
| 764 |
|
PRT149 |
Partial Deletion of Chromosome 7 |
7 |
| 765 |
|
PRT217 |
Partial Duplication of the Short Arm of Chromosome 4 |
7 |
| 766 |
|
PRT223 |
Partial Duplication of Chromosome 11 |
7 |
| 767 |
|
SLV016 |
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication |
7 |
| 768 |
|
MCR184 |
Macrodactyly of Fingers |
7 |
| 769 |
|
CNG289 |
Congenital Absence/hypoplasia of Thumb |
7 |
| 770 |
|
RDL020 |
Radio-Ulnar Synostosis, Bilateral |
7 |
| 771 |
|
PRT109 |
Partially Involuting Congenital Hemangioma |
7 |
| 772 |
c
|
PRD042 |
Prader-Willi-Like Syndrome Due to a Point Mutation |
7 |
| 773 |
|
CNG334 |
Congenital Esophageal Diverticulum |
7 |
| 774 |
c
|
PTR023 |
Paternal Uniparental Disomy of Chromosome 13 |
7 |
| 775 |
|
SPN082 |
Spina Bifida Hypospadias |
7 |
| 776 |
|
PRT216 |
Partial Trisomy of Chromosome 20 |
7 |
| 777 |
|
PRT244 |
Partial Deletion of the Short Arm of Chromosome 12 |
7 |
| 778 |
|
ISL064 |
Isolated Ankyloblepharon Filiforme Adnatum |
7 |
| 779 |
|
CNG107 |
Congenital Mitral Malformation |
7 |
| 780 |
|
MLF005 |
Malformation Syndrome with Short Stature |
7 |
| 781 |
P
|
TSS001 |
Tessier Number 5 Facial Cleft |
7 |
| 782 |
|
PRT143 |
Partial Deletion of Chromosome 5 |
7 |
| 783 |
|
21Q001 |
21q22.11q22.12 Microdeletion Syndrome |
7 |
| 784 |
c
|
MTR065 |
Maternal Uniparental Disomy of Chromosome 21 |
7 |
| 785 |
|
ECS003 |
Eec Syndrome and Related Disorders |
7 |
| 786 |
P
|
ISC012 |
Isochromosome Y |
7 |
| 787 |
|
MLT170 |
Multiple Congenital Anomalies/dysmorphic Syndrome |
6 |
| 788 |
|
PRT150 |
Partial Deletion of the Long Arm of Chromosome 12 |
6 |
| 789 |
|
PRT175 |
Partial Deletion of the Long Arm of Chromosome 2 |
6 |
| 790 |
|
1P3003 |
1p35.2 Microdeletion Syndrome |
6 |
| 791 |
|
URG006 |
Urogenital Tract Malformation |
6 |
| 792 |
|
ECT057 |
Ectasia of the Right Atrial Appendage |
6 |
| 793 |
|
HYP850 |
Hypoglossia/aglossia |
6 |
| 794 |
|
14Q003 |
14q11.2 Microduplication Syndrome |
6 |
| 795 |
|
PRT229 |
Partial Duplication of Chromosome 2 |
6 |
| 796 |
c
|
LRY048 |
Laryngotracheoesophageal Cleft Type 0 |
6 |
| 797 |
|
PHK010 |
Phakomatosis Spilorosea |
6 |
| 798 |
|
DST088 |
Distal Trisomy 1p36 |
6 |
| 799 |
|
SYN126 |
Syndromic Microspherophakia |
6 |
| 800 |
c
|
HYD017 |
Hydrocephalus Autosomal Recessive |
6 |
| 801 |
c
|
CHR179 |
Chromosome 1, Uniparental Disomy 1q12 Q21 |
6 |
| 802 |
|
CRN073 |
Coronary Arteries Congenital Malformation |
6 |
| 803 |
|
PRT139 |
Partial Bilateral Aplasia of the Mullerian Ducts |
6 |
| 804 |
c
|
PRD024 |
Prader-Willi Syndrome Due to Translocation |
6 |
| 805 |
|
PRT141 |
Partial Deletion of Chromosome 1 |
6 |
| 806 |
|
PRT158 |
Partial Deletion of the Short Arm of Chromosome 2 |
6 |
| 807 |
|
PRT172 |
Partial Deletion of the Short Arm of Chromosome 19 |
6 |
| 808 |
|
PRT176 |
Partial Deletion of the Long Arm of Chromosome 3 |
6 |
| 809 |
|
PRT189 |
Partial Duplication of the Long Arm of Chromosome 19 |
6 |
| 810 |
|
PRT192 |
Partial Duplication of the Long Arm of Chromosome 22 |
6 |
| 811 |
|
PRT209 |
Partial Duplication of the Short Arm of Chromosome 17 |
6 |
| 812 |
|
16Q002 |
16q24.1 Microdeletion Syndrome |
6 |
| 813 |
|
UPP009 |
Upper Limb Hypertrophy |
6 |
| 814 |
|
AML036 |
Amelia of Lower Limb |
6 |
| 815 |
|
14Q005 |
14q24.1q24.3 Microdeletion Syndrome |
6 |
| 816 |
|
9Q3001 |
9q31.1q31.3 Microdeletion Syndrome |
6 |
| 817 |
|
DBL016 |
Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy |
6 |
| 818 |
|
DST077 |
Distal Trisomy 22q |
6 |
| 819 |
c
|
SCN083 |
Secondary Early-Onset Glaucoma |
5 |
| 820 |
c
|
ATS003 |
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome |
5 |
| 821 |
|
ISL044 |
Isolated Arhinencephaly |
5 |
| 822 |
|
MLF009 |
Malformation of the Cerebellar Vermis |
5 |
| 823 |
|
PLM157 |
Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome |
5 |
| 824 |
|
3Q2005 |
3q26q27 Microdeletion Syndrome |
5 |
| 825 |
|
SYN096 |
Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication |
5 |
| 826 |
|
ATS356 |
Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome |
5 |
| 827 |
|
PRT249 |
Partial Autosomal Monosomy |
5 |
| 828 |
c
|
PTR020 |
Paternal Uniparental Disomy of Chromosome 20 |
5 |
| 829 |
|
DST067 |
Distal Monosomy 14q |
5 |
| 830 |
|
CNG438 |
Congenital Disorder of Glycosylation with Developmental Anomaly |
5 |
| 831 |
|
AGN009 |
Agenesis and Aplasia of Uterine Body |
5 |
| 832 |
|
FCL034 |
Facial Dermoid Cyst |
5 |
| 833 |
|
PRT168 |
Partial Deletion of the Short Arm of Chromosome 16 |
5 |
| 834 |
|
PRT195 |
Partial Duplication of the Long Arm of Chromosome 8 |
5 |
| 835 |
|
SPN268 |
Spondyloepimetaphyseal Dysplasia, Isidor Type |
5 |
| 836 |
|
JNT005 |
Joint Formation Defects |
5 |
| 837 |
|
SYN118 |
Syndrome with Limb Reduction Defects |
5 |
| 838 |
|
HMR036 |
Humero-Ulnar Synostosis, Unilateral |
5 |
| 839 |
|
HMR037 |
Humero-Ulnar Synostosis, Bilateral |
5 |
| 840 |
|
SPR139 |
Superior Celosomia |
5 |
| 841 |
|
DBL013 |
Double Outlet Right Ventricle with Non-Committed Subpulmonary Ventricular Septal Defect |
5 |
| 842 |
|
CNG537 |
Congenital Anomaly of the Tricuspid Valve Chordae |
5 |
| 843 |
c
|
PRM303 |
Primary Early-Onset Glaucoma |
5 |
| 844 |
|
ISL079 |
Isolated Encephalocele |
5 |
| 845 |
|
NNT001 |
Neonatal Infective Mastitis |
5 |
| 846 |
c
|
LSS019 |
Lissencephaly with Cerebellar Hypoplasia Type E |
5 |
| 847 |
c
|
LSS020 |
Lissencephaly with Cerebellar Hypoplasia Type B |
5 |
| 848 |
c
|
CHR251 |
Chromosome 5, Uniparental Disomy |
5 |
| 849 |
|
CLS021 |
Closed Iniencephaly |
5 |
| 850 |
|
LWM001 |
Low Implantation of Placenta |
4 |
| 851 |
|
NNS046 |
Non-Syndromic Urogenital Tract Malformation |
4 |
| 852 |
|
PRT142 |
Partial Deletion of Chromosome 4 |
4 |
| 853 |
|
PRT157 |
Partial Deletion of Chromosome 19 |
4 |
| 854 |
|
MCR280 |
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome |
4 |
| 855 |
|
CNG518 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
4 |
| 856 |
c
|
46X074 |
46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect |
4 |
| 857 |
c
|
PTR022 |
Paternal Uniparental Disomy of Chromosome 7 |
4 |
| 858 |
|
NND007 |
Non-Distal Monosomy 12q |
4 |
| 859 |
|
NND009 |
Non-Distal Trisomy 9q |
4 |
| 860 |
c
|
CNG593 |
Congenital Mitral Valve Insufficiency and/or Stenosis |
4 |
| 861 |
|
SPN233 |
Spondyloepimetaphyseal Dysplasia, Bieganski Type |
4 |
| 862 |
|
RDL025 |
Radial Deficiency-Tibial Hypoplasia Syndrome |
4 |
| 863 |
|
NSL027 |
Nasal Dorsum Fistula |
4 |
| 864 |
c
|
PRT188 |
Partial Trisomy of the Long Arm of Chromosome 20 |
4 |
| 865 |
|
PRT212 |
Partial Duplication of the Short Arm of Chromosome 16 |
4 |
| 866 |
|
PRT220 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 5 |
4 |
| 867 |
|
ISL046 |
Isolated Bilateral Hemispheric Cerebellar Hypoplasia |
4 |
| 868 |
|
ISL051 |
Isolated Partial Cerebellar Vermis Agenesis |
4 |
| 869 |
c
|
ISL052 |
Isolated Total Cerebellar Vermis Agenesis |
4 |
| 870 |
|
ABN008 |
Abnormal Origin of the Pulmonary Artery |
4 |
| 871 |
|
BCK010 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion |
4 |
| 872 |
|
CNG268 |
Congenital Primary Megaureter, Nonrefluxing and Unobstructed Form |
4 |
| 873 |
|
CNG269 |
Congenital Primary Megaureter, Refluxing Form |
4 |
| 874 |
|
CNG270 |
Congenital Primary Megaureter, Obstructed Form |
4 |
| 875 |
c
|
PRM147 |
Primary Megaureter, Adult-Onset Form |
4 |
| 876 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
| 877 |
|
CNG569 |
Congenital Disorder of Glycosylation with Cardiac Malformation As a Major Feature |
4 |
| 878 |
|
INT227 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
4 |
| 879 |
|
20Q002 |
20q11.2 Microduplication Syndrome |
4 |
| 880 |
|
MDL018 |
Madelung Deformity, Unilateral |
4 |
| 881 |
|
16P011 |
16p12.1p12.3 Triplication Syndrome |
4 |
| 882 |
|
CNG331 |
Congenital Bilateral Megacalycosis |
4 |
| 883 |
|
XLN147 |
X-Linked Intellectual Disability, Stoll Type |
4 |
| 884 |
|
ATR095 |
Atrial Appendage Anomaly |
4 |
| 885 |
|
DYS209 |
Dysostosis with Predominant Vertebral and Costal Involvement |
4 |
| 886 |
|
XLN157 |
X-Linked Intellectual Disability, Porteous Type |
4 |
| 887 |
|
ABN010 |
Abnormal Number of Coronary Ostia |
4 |
| 888 |
|
PRS139 |
Persistent Left Superior Vena Cava Connecting Through Coronary Sinus to Left-Sided Atrium |
4 |
| 889 |
|
MLF008 |
Malformation of the Cerebellar Hemispheres |
4 |
| 890 |
|
SBC038 |
Sub-Cortical Nodular Heterotopia |
4 |
| 891 |
|
CNG606 |
Congenital Aortic Valve Dysplasia |
4 |
| 892 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
4 |
| 893 |
|
MDN006 |
Median Cleft of the Upper Lip and Maxilla |
4 |
| 894 |
|
PRT156 |
Partial Deletion of Chromosome 20 |
4 |
| 895 |
|
PRT233 |
Partial Duplication of Chromosome 6 |
4 |
| 896 |
|
SGM005 |
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia |
4 |
| 897 |
|
HMZ005 |
Homozygous 2p21 Microdeletion Syndrome |
4 |
| 898 |
|
CNG316 |
Congenital Vertical Talus, Bilateral |
4 |
| 899 |
|
MYB004 |
Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome |
4 |
| 900 |
|
46X078 |
46,xx Disorder of Sex Development Induced by Androgens Excess |
4 |
| 901 |
c
|
PTR021 |
Paternal Uniparental Disomy of Chromosome 21 |
4 |
| 902 |
|
SYN156 |
Syndrome with Limb Malformations As a Major Feature |
4 |
| 903 |
|
SYN162 |
Syndromic Esophageal Malformation |
4 |
| 904 |
c
|
INT350 |
Intermediate Isolated Anorectal Malformation |
3 |
| 905 |
|
FRN038 |
Frontonasal Arteriovenous Malformation |
3 |
| 906 |
|
SYN111 |
Syndrome with a Cerebellar Malformation As Major Feature |
3 |
| 907 |
|
46X064 |
46,xy Disorder of Sex Development Induced by Maternal Exposure to Endocrine Disruptors |
3 |
| 908 |
|
INT248 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
3 |
| 909 |
|
INT305 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
3 |
| 910 |
|
SPR109 |
Supratip Dysplasia |
3 |
| 911 |
|
DYS207 |
Dysostosis with Brachydactyly Without Extraskeletal Manifestations |
3 |
| 912 |
|
NNS056 |
Non-Syndromic Complex Polydactyly |
3 |
| 913 |
|
STR075 |
Straddling or Overriding Tricuspid Valve |
3 |
| 914 |
|
BCK016 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication |
3 |
| 915 |
|
DYS210 |
Dysostosis with Predominant Craniofacial Involvement |
3 |
| 916 |
|
SYN142 |
Syndrome with Synostosis or Other Joint Formation Defect |
3 |
| 917 |
|
NNS060 |
Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy |
3 |
| 918 |
|
CNG349 |
Congenital Patent Ductus Arteriosus Aneurysm |
3 |
| 919 |
|
PLM119 |
Pulmonary Artery Coming from Patent Ductus Arteriosus |
3 |
| 920 |
|
CNG361 |
Congenital Supravalvular Mitral Ring |
3 |
| 921 |
|
MTR068 |
Mitral Valve Agenesis |
3 |
| 922 |
|
LNS007 |
Lens Shape Anomaly |
3 |
| 923 |
|
ANM025 |
Anomaly of the Mitral Subvalvular Apparatus |
3 |
| 924 |
c
|
GLC029 |
Glaucoma Type 1c |
3 |
| 925 |
c
|
GLC033 |
Glaucoma, Hereditary Adult Type 1a |
3 |
| 926 |
c
|
GLC034 |
Glaucoma, Hereditary Juvenile Type 1b |
3 |
| 927 |
c
|
GLC035 |
Glaucoma, Primary Infantile Type 3a |
3 |
| 928 |
|
NNS051 |
Non-Syndromic Urogenital Tract Malformation of Male |
3 |
| 929 |
|
PRR036 |
Pierre Robin Syndrome Associated with Collagen Disease |
3 |
| 930 |
|
PRR037 |
Pierre Robin Syndrome Associated with a Chromosomal Anomaly |
3 |
| 931 |
|
TRT023 |
Teratogenic Pierre Robin Syndrome |
3 |
| 932 |
P
|
YCH005 |
Y Chromosome Number Anomaly |
3 |
| 933 |
|
PRT232 |
Partial Trisomy/tetrasomy of Chromosome 5 |
3 |
| 934 |
|
EPB005 |
Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome |
3 |
| 935 |
|
CNG317 |
Congenital Genu Flexum |
3 |
| 936 |
|
CNG321 |
Congenital Elbow Dislocation, Bilateral |
3 |
| 937 |
|
DPH029 |
Diaphragmatic Hernia-Short Bowel-Asplenia Syndrome |
3 |
| 938 |
c
|
TTL013 |
Total Autosomal Trisomy |
3 |
| 939 |
|
ATS455 |
Autosomal Uniparental Disomy |
3 |
| 940 |
|
SXC005 |
Sex-Chromosome Number Anomaly |
3 |
| 941 |
|
SXC006 |
Sex-Chromosome Structural Anomaly |
3 |
| 942 |
|
SYN159 |
Syndromic Diaphragmatic or Abdominal Wall Malformation |
3 |
| 943 |
|
MLF003 |
Malformative Syndrome with Dentinogenesis Imperfecta |
3 |
| 944 |
|
NNS049 |
Non-Syndromic Uterovaginal Malformation |
3 |
| 945 |
c
|
46X067 |
46,xx Disorder of Gonadal Development |
3 |
| 946 |
|
NNS052 |
Non-Syndromic Urogenital Tract Malformation of Male and Female |
2 |
| 947 |
|
XCH003 |
X Chromosome Number Anomaly with Female Phenotype |
2 |
| 948 |
|
NNS065 |
Non-Syndromic Diaphragmatic or Abdominal Wall Malformation |
2 |
| 949 |
|
NNS066 |
Non-Syndromic Visceral Malformation |
2 |
| 950 |
|
NNS069 |
Non-Syndromic Esophageal Malformation |
2 |
| 951 |
|
EMB004 |
Embryonal Carcinoma |
57 |
| 952 |
c
|
WLM018 |
Wilms Tumor 5 |
63 |
| 953 |
P
|
FTL033 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
45 |
| 954 |
|
EMB006 |
Embryonal Testis Carcinoma |
35 |
| 955 |
c
|
FTL067 |
Fetal Hemoglobin Quantitative Trait Locus 6 |
28 |
| 956 |
P
|
CNT003 |
Central Nervous System Embryonal Carcinoma |
10 |
| 957 |
|
INT309 |
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin |
22 |
| 958 |
|
INT041 |
Intratubular Embryonal Carcinoma |
26 |
| 959 |
|
DFN191 |
Deafness, Congenital Heart Defects, and Posterior Embryotoxon |
20 |
| 960 |
c
|
FTL065 |
Fetal Hemoglobin Quantitative Trait Locus 5 |
15 |
| 961 |
c
|
WLM013 |
Wilms Tumor 1 |
69 |
| 962 |
c
|
WLM011 |
Wilms Tumor 6 |
38 |
| 963 |
|
EMB015 |
Embryonal Tumor with Multilayered Rosettes |
29 |
| 964 |
c
|
WLM005 |
Wilms Tumor 2 |
27 |
| 965 |
P
|
HRD009 |
Hereditary Wilms' Tumor |
26 |
| 966 |
c
|
WLM015 |
Wilms Tumor 3 |
18 |
| 967 |
c
|
WLM017 |
Wilms Tumor 4 |
18 |
| 968 |
c
|
FML094 |
Familial Wilms Tumor 2 |
9 |
| 969 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
6 |
| 970 |
|
TRT001 |
Teratocarcinoma |
44 |
| 971 |
P
|
END039 |
Endodermal Sinus Tumor |
44 |
| 972 |
c
|
ADL047 |
Adult Endodermal Sinus Tumor |
9 |
| 973 |
P
|
LFT003 |
Left Ventricular Noncompaction |
55 |
| 974 |
|
FTL012 |
Fetal and Neonatal Alloimmune Thrombocytopenia |
43 |
| 975 |
c
|
PRS122 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
38 |
| 976 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
35 |
| 977 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
33 |
| 978 |
c
|
LFT017 |
Left Ventricular Noncompaction 8 |
28 |
| 979 |
c
|
LFT018 |
Left Ventricular Noncompaction 10 |
25 |
| 980 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
21 |
| 981 |
c
|
FTL036 |
Fetal Hemoglobin Quantitative Trait Locus 2 |
18 |
| 982 |
c
|
LFT011 |
Left Ventricular Noncompaction 2 |
17 |
| 983 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
7 |
| 984 |
c
|
HYD046 |
Hydatidiform Mole, Recurrent, 1 |
62 |
| 985 |
P
|
PTN014 |
Patent Ductus Arteriosus 1 |
60 |
| 986 |
|
GRM005 |
Germ Cell Cancer |
47 |
| 987 |
|
EMB007 |
Embryonal Sarcoma |
42 |
| 988 |
|
HRD183 |
Hereditary Persistence of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
21 |
| 989 |
|
HRD180 |
Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
20 |
| 990 |
|
WLL022 |
Well-Differentiated Fetal Adenocarcinoma of the Lung |
16 |
| 991 |
P
|
FTL014 |
Fetal Brain Disruption Sequence |
11 |
| 992 |
c
|
FTL034 |
Fetal Hemoglobin Quantitative Trait Locus 4 |
11 |
| 993 |
|
HYD069 |
Hydrops Fetalis, Nonimmune, with Gracile Bones and Dysmorphism |
10 |
| 994 |
|
CHL030 |
Childhood Botryoid Rhabdomyosarcoma |
8 |
| 995 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma |
7 |
| 996 |
|
FTL017 |
Fetal Enterovirus Syndrome |
2 |
| 997 |
P
|
OST002 |
Osteoporosis |
79 |
| 998 |
|
APR006 |
Apert Syndrome |
70 |
| 999 |
c
|
EPL184 |
Epileptic Encephalopathy, Early Infantile, 6 |
68 |
| 1000 |
|
SMT004 |
Smith-Lemli-Opitz Syndrome |
67 |
| 1001 |
P
|
HLP001 |
Holoprosencephaly |
67 |
| 1002 |
c
|
MCL062 |
Mucolipidosis Ii Alpha/beta |
67 |
| 1003 |
|
STH001 |
Saethre-Chotzen Syndrome |
66 |
| 1004 |
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
| 1005 |
P
|
ANG001 |
Angelman Syndrome |
65 |
| 1006 |
P
|
MCK013 |
Meckel Syndrome, Type 1 |
64 |
| 1007 |
P
|
ART005 |
Arteriovenous Malformation |
63 |
| 1008 |
|
ART002 |
Arts Syndrome |
63 |
| 1009 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
63 |
| 1010 |
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
63 |
| 1011 |
|
HLT001 |
Holt-Oram Syndrome |
62 |
| 1012 |
c
|
BRD010 |
Bardet-Biedl Syndrome 1 |
61 |
| 1013 |
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
61 |
| 1014 |
c
|
MCL013 |
Mucolipidosis Iv |
60 |
| 1015 |
P
|
MLG056 |
Malignant Hyperthermia |
60 |
| 1016 |
|
MLT092 |
Multicentric Carpotarsal Osteolysis Syndrome |
60 |
| 1017 |
P
|
ERL057 |
Early Infantile Epileptic Encephalopathy |
60 |
| 1018 |
P
|
INT070 |
Intestinal Obstruction |
60 |
| 1019 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
| 1020 |
|
ANG020 |
Angiosarcoma |
59 |
| 1021 |
P
|
MCR256 |
Microphthalmia, Syndromic 9 |
59 |
| 1022 |
P
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
59 |
| 1023 |
|
CHR101 |
Char Syndrome |
58 |
| 1024 |
P
|
MTC069 |
Mitochondrial Disorders |
57 |
| 1025 |
|
SCH078 |
Schimmelpenning-Feuerstein-Mims Syndrome |
57 |
| 1026 |
|
BRN056 |
Bronchopulmonary Dysplasia |
57 |
| 1027 |
P
|
BTH005 |
Bethlem Myopathy 1 |
56 |
| 1028 |
c
|
HYP293 |
Hypophosphatasia, Adult |
56 |
| 1029 |
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
56 |
| 1030 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
55 |
| 1031 |
|
GRN034 |
Grange Syndrome |
55 |
| 1032 |
c
|
CNG216 |
Congenital Hydrocephalus |
55 |
| 1033 |
|
DBL002 |
Double Outlet Right Ventricle |
55 |
| 1034 |
|
OCL020 |
Ocular Cicatricial Pemphigoid |
55 |
| 1035 |
c
|
FRS014 |
Fraser Syndrome 1 |
55 |
| 1036 |
c
|
AML044 |
Amelogenesis Imperfecta, Type Ig |
55 |
| 1037 |
|
CLF004 |
Cleft Lip/palate |
55 |
| 1038 |
|
OST024 |
Osteoporosis-Pseudoglioma Syndrome |
55 |
| 1039 |
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
| 1040 |
P
|
PSD015 |
Pseudohypoparathyroidism |
54 |
| 1041 |
P
|
JNC001 |
Junctional Epidermolysis Bullosa |
54 |
| 1042 |
P
|
PTS002 |
Ptosis |
53 |
| 1043 |
|
EBS001 |
Ebstein Anomaly |
53 |
| 1044 |
P
|
PRS049 |
Persistent Mullerian Duct Syndrome |
53 |
| 1045 |
c
|
OST164 |
Osteoporosis, Juvenile |
53 |
| 1046 |
P
|
MRG008 |
Meier-Gorlin Syndrome 1 |
53 |
| 1047 |
P
|
VSC013 |
Visceral Heterotaxy |
53 |
| 1048 |
|
SPR004 |
Supravalvular Aortic Stenosis |
52 |
| 1049 |
|
ACR058 |
Acrofacial Dysostosis 1, Nager Type |
52 |
| 1050 |
|
GST009 |
Gastroschisis |
52 |
| 1051 |
|
ACR011 |
Acromesomelic Dysplasia, Maroteaux Type |
52 |
| 1052 |
|
DXT001 |
Dextrocardia |
52 |
| 1053 |
P
|
TRT010 |
Teratoma |
52 |
| 1054 |
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
51 |
| 1055 |
|
PLC008 |
Placenta Disease |
51 |
| 1056 |
|
RNL078 |
Renal Dysplasia |
51 |
| 1057 |
|
OCC006 |
Occipital Horn Syndrome |
51 |
| 1058 |
|
JCK001 |
Jackson-Weiss Syndrome |
51 |
| 1059 |
P
|
NML001 |
Nemaline Myopathy |
51 |
| 1060 |
c
|
ACH041 |
Achondrogenesis, Type Ii |
51 |
| 1061 |
|
VTR016 |
Vater/vacterl Association |
51 |
| 1062 |
|
DYG001 |
Dyggve-Melchior-Clausen Disease |
51 |
| 1063 |
c
|
EPD076 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
51 |
| 1064 |
c
|
EPL037 |
Epileptic Encephalopathy, Early Infantile, 1 |
50 |
| 1065 |
c
|
EHL078 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
50 |
| 1066 |
|
SPN028 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
50 |
| 1067 |
c
|
SPN330 |
Spondylocostal Dysostosis 5 |
49 |
| 1068 |
|
MYP136 |
Myopathy, Centronuclear, X-Linked |
49 |
| 1069 |
c
|
SHR075 |
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly |
49 |
| 1070 |
P
|
CNG499 |
Congenital Anomalies of Kidney and Urinary Tract 2 |
49 |
| 1071 |
|
PYL017 |
Pyle Disease |
48 |
| 1072 |
|
NRL002 |
Neurilemmomatosis |
48 |
| 1073 |
c
|
BRD016 |
Bardet-Biedl Syndrome 4 |
48 |
| 1074 |
c
|
NML003 |
Nemaline Myopathy 2 |
48 |
| 1075 |
c
|
NML002 |
Nemaline Myopathy 1 |
48 |
| 1076 |
P
|
AML002 |
Amelogenesis Imperfecta |
48 |
| 1077 |
|
PRP066 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease |
48 |
| 1078 |
|
HYR002 |
Hoyeraal Hreidarsson Syndrome |
48 |
| 1079 |
c
|
ACH033 |
Achondrogenesis, Type Ia |
48 |
| 1080 |
|
TTR011 |
Tetraploidy |
47 |
| 1081 |
P
|
KRN004 |
Kernicterus |
47 |
| 1082 |
P
|
CNG003 |
Congenital Dyserythropoietic Anemia |
47 |
| 1083 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
47 |
| 1084 |
P
|
GND004 |
Gonadal Dysgenesis |
47 |
| 1085 |
c
|
RBN022 |
Robinow Syndrome, Autosomal Recessive 1 |
47 |
| 1086 |
P
|
CRN074 |
Coronary Artery Aneurysm |
47 |
| 1087 |
P
|
CRN231 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
47 |
| 1088 |
|
MCR103 |
Microtia |
47 |
| 1089 |
|
YLL001 |
Yellow Nail Syndrome |
47 |
| 1090 |
c
|
MCK032 |
Meckel Syndrome, Type 3 |
47 |
| 1091 |
|
CRD002 |
Cri-Du-Chat Syndrome |
46 |
| 1092 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
46 |
| 1093 |
P
|
MCL001 |
Mucolipidosis |
46 |
| 1094 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
46 |
| 1095 |
P
|
CPL014 |
Capillary Malformation-Arteriovenous Malformation 1 |
46 |
| 1096 |
c
|
LKD019 |
Leukodystrophy, Hypomyelinating, 6 |
46 |
| 1097 |
|
NVS001 |
Neovascular Glaucoma |
46 |
| 1098 |
c
|
MLG081 |
Malignant Teratoma |
46 |
| 1099 |
|
SPN405 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
46 |
| 1100 |
c
|
BRD013 |
Bardet-Biedl Syndrome 12 |
46 |
| 1101 |
|
FBL008 |
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly |
45 |
| 1102 |
P
|
PRD037 |
Periodontal Ehlers-Danlos Syndrome |
45 |
| 1103 |
P
|
JVN008 |
Juvenile Glaucoma |
45 |
| 1104 |
c
|
TRC091 |
Trichorhinophalangeal Syndrome, Type Ii |
45 |
| 1105 |
|
MLT145 |
Multiple Enchondromatosis, Maffucci Type |
45 |
| 1106 |
|
VSD002 |
Vas Deferens, Congenital Bilateral Aplasia of |
45 |
| 1107 |
|
BHR002 |
Bohring-Opitz Syndrome |
45 |
| 1108 |
c
|
BRD044 |
Bardet-Biedl Syndrome 17 |
45 |
| 1109 |
c
|
PRS128 |
Persistent Mullerian Duct Syndrome, Types I and Ii |
45 |
| 1110 |
|
LRY022 |
Laryngoonychocutaneous Syndrome |
45 |
| 1111 |
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
45 |
| 1112 |
c
|
BRD018 |
Bardet-Biedl Syndrome 6 |
45 |
| 1113 |
c
|
46X001 |
46 Xy Gonadal Dysgenesis |
45 |
| 1114 |
P
|
CRN013 |
Craniodiaphyseal Dysplasia |
45 |
| 1115 |
c
|
CTR098 |
Cataract 1, Multiple Types |
45 |
| 1116 |
c
|
BRD015 |
Bardet-Biedl Syndrome 3 |
45 |
| 1117 |
c
|
BRD020 |
Bardet-Biedl Syndrome 8 |
45 |
| 1118 |
|
HND004 |
Hand-Foot-Genital Syndrome |
44 |
| 1119 |
|
STV003 |
Stuve-Wiedemann Syndrome |
44 |
| 1120 |
P
|
ACH011 |
Achondrogenesis |
44 |
| 1121 |
|
ASP004 |
Asphyxia Neonatorum |
44 |
| 1122 |
c
|
HLP023 |
Holoprosencephaly 1 |
44 |
| 1123 |
P
|
SYN075 |
Syngnathia |
44 |
| 1124 |
P
|
BRN006 |
Branchiootorenal Syndrome |
44 |
| 1125 |
c
|
BRD033 |
Bardet-Biedl Syndrome 13 |
44 |
| 1126 |
c
|
NML004 |
Nemaline Myopathy 3 |
44 |
| 1127 |
c
|
HYP793 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
44 |
| 1128 |
|
SHP005 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
44 |
| 1129 |
c
|
ACH042 |
Achondrogenesis, Type Ib |
44 |
| 1130 |
|
SHR044 |
Short Rib-Polydactyly Syndrome |
44 |
| 1131 |
c
|
EPL029 |
Epileptic Encephalopathy, Early Infantile, 9 |
44 |
| 1132 |
c
|
BRC052 |
Brachydactyly, Type B2 |
44 |
| 1133 |
P
|
ECT005 |
Ectropion |
44 |
| 1134 |
c
|
HLP026 |
Holoprosencephaly 3 |
43 |
| 1135 |
c
|
LKD015 |
Leukodystrophy, Hypomyelinating, 3 |
43 |
| 1136 |
c
|
USH035 |
Usher Syndrome Type 2 |
43 |
| 1137 |
c
|
BRD012 |
Bardet-Biedl Syndrome 11 |
43 |
| 1138 |
c
|
RNL122 |
Renal Hypodysplasia/aplasia 3 |
43 |
| 1139 |
c
|
MCK012 |
Meckel Syndrome, Type 6 |
43 |
| 1140 |
c
|
MLG147 |
Malignant Hyperthermia 1 |
43 |
| 1141 |
P
|
CRB154 |
Cerebrocostomandibular Syndrome |
43 |
| 1142 |
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
43 |
| 1143 |
c
|
46X002 |
46 Xx Gonadal Dysgenesis |
43 |
| 1144 |
c
|
BRD011 |
Bardet-Biedl Syndrome 10 |
43 |
| 1145 |
|
OVR112 |
Ovarian Germ Cell Cancer |
43 |
| 1146 |
c
|
HLP024 |
Holoprosencephaly 2 |
42 |
| 1147 |
|
WYR002 |
Weyers Acrofacial Dysostosis |
42 |
| 1148 |
c
|
HLP029 |
Holoprosencephaly 4 |
42 |
| 1149 |
|
MDL009 |
Medullary Sponge Kidney |
42 |
| 1150 |
P
|
CHR342 |
Chiari Malformation |
42 |
| 1151 |
|
BMR001 |
Boomerang Dysplasia |
42 |
| 1152 |
P
|
GLP001 |
Geleophysic Dysplasia |
42 |
| 1153 |
|
CNG069 |
Congenital Cytomegalovirus |
42 |
| 1154 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
42 |
| 1155 |
c
|
BRD017 |
Bardet-Biedl Syndrome 5 |
42 |
| 1156 |
|
TRP009 |
Triple X Syndrome |
42 |
| 1157 |
|
CHR492 |
Chromosome 13q14 Deletion Syndrome |
42 |
| 1158 |
c
|
BRD032 |
Bardet-Biedl Syndrome 14 |
42 |
| 1159 |
|
BRT059 |
Bartsocas-Papas Syndrome |
41 |
| 1160 |
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
41 |
| 1161 |
|
TRP014 |
Triploidy |
41 |
| 1162 |
|
CHR211 |
Chromosome 18p Deletion Syndrome |
41 |
| 1163 |
c
|
ANM043 |
Anemia, Congenital Dyserythropoietic, Type Ia |
41 |
| 1164 |
c
|
EPL025 |
Epileptic Encephalopathy, Early Infantile, 2 |
41 |
| 1165 |
c
|
SCP001 |
Sc Phocomelia Syndrome |
41 |
| 1166 |
c
|
HYP543 |
Hypoplastic Left Heart Syndrome 1 |
41 |
| 1167 |
c
|
CHR579 |
Chiari Malformation Type Ii |
41 |
| 1168 |
|
ACR043 |
Acromicric Dysplasia |
41 |
| 1169 |
|
LCR013 |
Lacrimal Duct Defect |
41 |
| 1170 |
c
|
CRN146 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
41 |
| 1171 |
c
|
MCK031 |
Meckel Syndrome, Type 2 |
41 |
| 1172 |
c
|
LKD009 |
Leukodystrophy, Hypomyelinating, 5 |
40 |
| 1173 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
40 |
| 1174 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
40 |
| 1175 |
|
SCH037 |
Schinzel-Giedion Midface Retraction Syndrome |
40 |
| 1176 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
40 |
| 1177 |
|
TRP006 |
Tarp Syndrome |
40 |
| 1178 |
c
|
BRN131 |
Branchiootorenal Syndrome 1 |
40 |
| 1179 |
c
|
NML005 |
Nemaline Myopathy 4 |
40 |
| 1180 |
c
|
BRD048 |
Bardet-Biedl Syndrome 18 |
40 |
| 1181 |
|
CRB142 |
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant |
39 |
| 1182 |
P
|
ECT045 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
39 |
| 1183 |
|
PLN006 |
Poland Syndrome |
39 |
| 1184 |
P
|
MCR364 |
Macrodactyly |
39 |
| 1185 |
c
|
ANT071 |
Anterior Segment Dysgenesis 4 |
39 |
| 1186 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
39 |
| 1187 |
c
|
BRD035 |
Bardet-Biedl Syndrome 15 |
39 |
| 1188 |
P
|
OMD003 |
Omodysplasia |
39 |
| 1189 |
|
GST052 |
Gestational Choriocarcinoma |
39 |
| 1190 |
|
CHR590 |
Chromosome 15q11-Q13 Duplication Syndrome |
39 |
| 1191 |
c
|
CNG513 |
Congenital Ptosis |
39 |
| 1192 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
39 |
| 1193 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
39 |
| 1194 |
|
ACR016 |
Acromesomelic Dysplasia |
39 |
| 1195 |
|
WHT019 |
White-Sutton Syndrome |
39 |
| 1196 |
c
|
EHL071 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
39 |
| 1197 |
|
ANM001 |
Anemia of Prematurity |
38 |
| 1198 |
|
CRY032 |
Carey-Fineman-Ziter Syndrome |
38 |
| 1199 |
c
|
NML006 |
Nemaline Myopathy 5 |
38 |
| 1200 |
|
CHR386 |
Chromosome 6pter-P24 Deletion Syndrome |
38 |
| 1201 |
|
ANT057 |
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis |
38 |
| 1202 |
c
|
MCK014 |
Meckel Syndrome, Type 5 |
38 |
| 1203 |
c
|
EPL023 |
Epileptic Encephalopathy, Early Infantile, 11 |
38 |
| 1204 |
|
OGD001 |
Ogden Syndrome |
38 |
| 1205 |
P
|
BRC003 |
Brachyolmia |
38 |
| 1206 |
|
BRT046 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
38 |
| 1207 |
|
TRC097 |
Tracheomalacia |
38 |
| 1208 |
c
|
EPL068 |
Epileptic Encephalopathy, Early Infantile, 7 |
38 |
| 1209 |
c
|
BRD047 |
Bardet-Biedl Syndrome 16 |
37 |
| 1210 |
c
|
EPL185 |
Epileptic Encephalopathy, Early Infantile, 39 |
37 |
| 1211 |
|
LTR009 |
Lateral Meningocele Syndrome |
37 |
| 1212 |
|
LRN006 |
Laurin-Sandrow Syndrome |
37 |
| 1213 |
P
|
PRR025 |
Perrault Syndrome |
37 |
| 1214 |
c
|
EPL027 |
Epileptic Encephalopathy, Early Infantile, 4 |
37 |
| 1215 |
|
ART127 |
Arthrogryposis Multiplex Congenita, Neurogenic Type |
37 |
| 1216 |
|
CRN088 |
Craniorachischisis |
37 |
| 1217 |
c
|
EPL097 |
Epileptic Encephalopathy, Early Infantile, 14 |
37 |
| 1218 |
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
37 |
| 1219 |
|
ASC009 |
Ascites, Chylous |
37 |
| 1220 |
c
|
MCK033 |
Meckel Syndrome, Type 4 |
36 |
| 1221 |
|
OST062 |
Osteoarthritis with Mild Chondrodysplasia |
36 |
| 1222 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
36 |
| 1223 |
|
CHN040 |
Choanal Atresia and Lymphedema |
36 |
| 1224 |
c
|
EPL026 |
Epileptic Encephalopathy, Early Infantile, 3 |
36 |
| 1225 |
c
|
ANM042 |
Anemia, Congenital Dyserythropoietic, Type Ii |
36 |
| 1226 |
c
|
WLL037 |
Weill-Marchesani Syndrome 2 |
36 |
| 1227 |
|
END059 |
Endocrine-Cerebroosteodysplasia |
36 |
| 1228 |
c
|
NJM002 |
Nijmegen Breakage Syndrome-Like Disorder |
36 |
| 1229 |
c
|
CHL142 |
Cholestasis, Intrahepatic, of Pregnancy 3 |
36 |
| 1230 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
36 |
| 1231 |
c
|
ECT041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
36 |
| 1232 |
|
CRD017 |
Cardiac Valvular Dysplasia, X-Linked |
36 |
| 1233 |
c
|
HTR021 |
Heterotaxy, Visceral, 5, Autosomal |
35 |
| 1234 |
c
|
EPL169 |
Epileptic Encephalopathy, Early Infantile, 36 |
35 |
| 1235 |
c
|
HLP028 |
Holoprosencephaly 5 |
35 |
| 1236 |
P
|
ENT005 |
Entropion |
35 |
| 1237 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
35 |
| 1238 |
|
CHR568 |
Chromosome 6q24-Q25 Deletion Syndrome |
35 |
| 1239 |
P
|
PLM149 |
Palmoplantar Keratoderma and Congenital Alopecia 2 |
35 |
| 1240 |
|
ACR009 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
35 |
| 1241 |
|
BLR028 |
Biliary Atresia, Extrahepatic |
35 |
| 1242 |
c
|
AML020 |
Amelogenesis Imperfecta, Type Iv |
35 |
| 1243 |
|
CHR226 |
Chromosome 1q41-Q42 Deletion Syndrome |
35 |
| 1244 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
35 |
| 1245 |
c
|
EPL119 |
Epileptic Encephalopathy, Early Infantile, 17 |
35 |
| 1246 |
|
ACR002 |
Acrocapitofemoral Dysplasia |
35 |
| 1247 |
|
CHR346 |
Chromosome 22q11.2 Deletion Syndrome, Distal |
35 |
| 1248 |
c
|
AML061 |
Amelogenesis Imperfecta, Type Ie |
35 |
| 1249 |
|
PLY036 |
Polyembryoma |
35 |
| 1250 |
|
HYP206 |
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive |
35 |
| 1251 |
|
CHR225 |
Chromosome 1q21.1 Duplication Syndrome |
35 |
| 1252 |
|
SPN360 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
34 |
| 1253 |
|
DND005 |
Dandy-Walker Complex |
34 |
| 1254 |
P
|
MTP005 |
Metaphyseal Anadysplasia |
34 |
| 1255 |
|
PYR012 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
34 |
| 1256 |
|
ISL109 |
Isolated Cleft Lip |
34 |
| 1257 |
|
ISL062 |
Isolated Plagiocephaly |
34 |
| 1258 |
c
|
EPL183 |
Epileptic Encephalopathy, Early Infantile, 50 |
34 |
| 1259 |
|
OLG021 |
Oligomeganephronia |
34 |
| 1260 |
|
DYS048 |
Dysplasia Epiphysealis Hemimelica |
34 |
| 1261 |
|
RFM001 |
Roifman Syndrome |
34 |
| 1262 |
|
ULN017 |
Ulna and Fibula, Absence of, with Severe Limb Deficiency |
34 |
| 1263 |
|
LMB008 |
Limb-Mammary Syndrome |
34 |
| 1264 |
c
|
BNM018 |
Bone Mineral Density Quantitative Trait Locus 3 |
34 |
| 1265 |
|
NGL001 |
Naegeli-Franceschetti-Jadassohn Syndrome |
33 |
| 1266 |
c
|
BRD045 |
Bardet-Biedl Syndrome 19 |
33 |
| 1267 |
P
|
CMP072 |
Camptodactyly Syndrome, Guadalajara, Type I |
33 |
| 1268 |
|
FCL084 |
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature |
33 |
| 1269 |
P
|
CHR084 |
Chromosomal Disease |
33 |
| 1270 |
|
CYS021 |
Cystic Adenomatoid Malformation of Lung |
33 |
| 1271 |
c
|
EPL117 |
Epileptic Encephalopathy, Early Infantile, 16 |
33 |
| 1272 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
33 |
| 1273 |
P
|
ALB023 |
Albinism, Ocular, with Sensorineural Deafness |
33 |
| 1274 |
c
|
FML084 |
Familial Porencephaly |
33 |
| 1275 |
|
MCR025 |
Microhydranencephaly |
33 |
| 1276 |
c
|
KNN009 |
Kenny-Caffey Syndrome, Type 1 |
33 |
| 1277 |
|
SCH030 |
Schneckenbecken Dysplasia |
33 |
| 1278 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
33 |
| 1279 |
|
SPN154 |
Spondyloperipheral Dysplasia |
33 |
| 1280 |
c
|
GLP003 |
Geleophysic Dysplasia 1 |
33 |
| 1281 |
|
BRN133 |
Bronchomalacia |
33 |
| 1282 |
c
|
ALB025 |
Albinism, Ocular, with Late-Onset Sensorineural Deafness |
32 |
| 1283 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
32 |
| 1284 |
|
OTD001 |
Otodental Dysplasia |
32 |
| 1285 |
|
ALZ030 |
Alazami Syndrome |
32 |
| 1286 |
|
CHR581 |
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb |
32 |
| 1287 |
c
|
EHL072 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
32 |
| 1288 |
|
PRP093 |
Pierpont Syndrome |
32 |
| 1289 |
|
PHC018 |
Phace Association |
32 |
| 1290 |
|
SPN302 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
32 |
| 1291 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
32 |
| 1292 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
32 |
| 1293 |
c
|
AML057 |
Amelogenesis Imperfecta, Type Iiia |
32 |
| 1294 |
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
32 |
| 1295 |
|
MSC020 |
Mosaic Trisomy 8 |
32 |
| 1296 |
c
|
BTH006 |
Bethlem Myopathy 2 |
32 |
| 1297 |
c
|
AML017 |
Amelogenesis Imperfecta, Type Ib |
32 |
| 1298 |
|
GLB024 |
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor |
32 |
| 1299 |
|
CHN019 |
Chand Syndrome |
31 |
| 1300 |
c
|
EPL123 |
Epileptic Encephalopathy, Early Infantile, 23 |
31 |
| 1301 |
|
PNC120 |
Pancreas, Dorsal, Agenesis of |
31 |
| 1302 |
|
CRB208 |
Cerebral Malformation |
31 |
| 1303 |
c
|
PSD104 |
Pseudohypoparathyroidism, Type Ii |
31 |
| 1304 |
|
TKN001 |
Takenouchi-Kosaki Syndrome |
31 |
| 1305 |
c
|
CPL015 |
Capillary Malformation-Arteriovenous Malformation 2 |
31 |
| 1306 |
c
|
RNG029 |
Ring Chromosome 14 Syndrome |
31 |
| 1307 |
|
CHR582 |
Chromosome 3q29 Duplication Syndrome |
31 |
| 1308 |
c
|
MCK034 |
Meckel Syndrome, Type 8 |
30 |
| 1309 |
|
DYS045 |
Dysosteosclerosis |
30 |
| 1310 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
30 |
| 1311 |
c
|
TRC093 |
Trichorhinophalangeal Syndrome, Type Iii |
30 |
| 1312 |
|
CRT069 |
Cortical Malformations, Occipital |
30 |
| 1313 |
|
PLM058 |
Pulmonary Atresia with Intact Ventricular Septum |
30 |
| 1314 |
|
MTR087 |
Maternal Uniparental Disomy |
30 |
| 1315 |
|
SPN012 |
Spindle Cell Hemangioma |
30 |
| 1316 |
c
|
ATS076 |
Autosomal Recessive Stickler Syndrome |
30 |
| 1317 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
30 |
| 1318 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
30 |
| 1319 |
|
IVC001 |
Ivic Syndrome |
30 |
| 1320 |
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
30 |
| 1321 |
c
|
GLP004 |
Geleophysic Dysplasia 2 |
30 |
| 1322 |
c
|
EHL083 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
30 |
| 1323 |
c
|
BNM030 |
Bone Mineral Density Quantitative Trait Locus 16 |
30 |
| 1324 |
|
AMN014 |
Aminopterin Syndrome Sine Aminopterin |
30 |
| 1325 |
c
|
ANM037 |
Anemia, Congenital Dyserythropoietic, Type Iii |
30 |
| 1326 |
P
|
VNM004 |
Van Maldergem Syndrome |
30 |
| 1327 |
|
ACR017 |
Acrofacial Dysostosis |
30 |
| 1328 |
|
MLL011 |
Mullerian Aplasia and Hyperandrogenism |
30 |
| 1329 |
c
|
HTR010 |
Heterotaxy, Visceral, 4, Autosomal |
30 |
| 1330 |
|
SPN352 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
29 |
| 1331 |
|
OCC011 |
Occipital Encephalocele |
29 |
| 1332 |
c
|
RNG018 |
Ring Chromosome 22 |
29 |
| 1333 |
|
CNS013 |
Constricting Bands, Congenital |
29 |
| 1334 |
|
DGT009 |
Digitotalar Dysmorphism |
29 |
| 1335 |
c
|
MLT138 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
29 |
| 1336 |
c
|
HLP025 |
Holoprosencephaly 9 |
29 |
| 1337 |
|
HYP364 |
Hyperostosis Frontalis Interna |
29 |
| 1338 |
|
WRF003 |
Warfarin Syndrome |
29 |
| 1339 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
29 |
| 1340 |
c
|
CNG509 |
Congenital Anomalies of Kidney and Urinary Tract 1 |
29 |
| 1341 |
|
JBR007 |
Joubert Syndrome with Renal Anomalies |
29 |
| 1342 |
|
UVL009 |
Uvula, Bifid |
29 |
| 1343 |
c
|
EPL024 |
Epileptic Encephalopathy, Early Infantile, 12 |
29 |
| 1344 |
|
CLF044 |
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly |
29 |
| 1345 |
c
|
PRR020 |
Perrault Syndrome 1 |
28 |
| 1346 |
c
|
EPL135 |
Epileptic Encephalopathy, Early Infantile, 27 |
28 |
| 1347 |
c
|
MLG151 |
Malignant Hyperthermia 5 |
28 |
| 1348 |
|
SPN391 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
28 |
| 1349 |
|
DSN002 |
Desanto-Shinawi Syndrome |
28 |
| 1350 |
c
|
MCR329 |
Microcephaly, Autosomal Dominant |
28 |
| 1351 |
c
|
LSS009 |
Lissencephaly 3 |
28 |
| 1352 |
|
INN003 |
Iniencephaly |
28 |
| 1353 |
c
|
EPL195 |
Epileptic Encephalopathy, Early Infantile, 53 |
28 |
| 1354 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
| 1355 |
c
|
ANM048 |
Anemia, Congenital Dyserythropoietic, Type Iv |
28 |
| 1356 |
c
|
BNM015 |
Bone Mineral Density Quantitative Trait Locus 18 |
28 |
| 1357 |
|
DFN039 |
Deafness-Infertility Syndrome |
28 |
| 1358 |
|
FTL007 |
Fetal Hydantoin Syndrome |
28 |
| 1359 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
28 |
| 1360 |
c
|
MCK035 |
Meckel Syndrome, Type 10 |
28 |
| 1361 |
|
CYS041 |
Cystic Angiomatosis of Bone, Diffuse |
28 |
| 1362 |
|
FRS007 |
Frias Syndrome |
28 |
| 1363 |
c
|
SYN060 |
Syndactyly, Type Iii |
28 |
| 1364 |
c
|
EPL082 |
Epileptic Encephalopathy, Early Infantile, 13 |
28 |
| 1365 |
c
|
RNG022 |
Ring Chromosome 6 |
28 |
| 1366 |
|
WLD004 |
Wildervanck Syndrome |
28 |
| 1367 |
c
|
NML007 |
Nemaline Myopathy 6 |
28 |
| 1368 |
c
|
NML022 |
Nemaline Myopathy 10 |
28 |
| 1369 |
c
|
HYP723 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1 |
28 |
| 1370 |
P
|
MTR051 |
Maternal Uniparental Disomy of Chromosome 1 |
28 |
| 1371 |
|
FCL047 |
Facial Clefting, Oblique, 1 |
28 |
| 1372 |
P
|
TTH021 |
Tethered Cord Syndrome |
28 |
| 1373 |
c
|
MCK028 |
Meckel Syndrome 13 |
28 |
| 1374 |
|
NBL001 |
Nablus Mask-Like Facial Syndrome |
27 |
| 1375 |
|
ISL061 |
Isolated Brachycephaly |
27 |
| 1376 |
|
LYM122 |
Lymphangiectasia, Pulmonary, Congenital |
27 |
| 1377 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
27 |
| 1378 |
c
|
MCR223 |
Microcephaly 10, Primary, Autosomal Recessive |
27 |
| 1379 |
c
|
HLP027 |
Holoprosencephaly 7 |
27 |
| 1380 |
|
RHM015 |
Rhombencephalosynapsis |
27 |
| 1381 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
27 |
| 1382 |
|
MSM004 |
Mesomelia-Synostoses Syndrome |
27 |
| 1383 |
c
|
RNG010 |
Ring Chromosome 15 |
27 |
| 1384 |
c
|
RNG015 |
Ring Chromosome 2 |
27 |
| 1385 |
c
|
LKD020 |
Leukodystrophy, Hypomyelinating, 10 |
27 |
| 1386 |
c
|
CRN303 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
27 |
| 1387 |
c
|
EPL038 |
Epileptic Encephalopathy, Early Infantile, 8 |
27 |
| 1388 |
|
CLF049 |
Cleft Lip and Alveolus |
27 |
| 1389 |
|
PRX085 |
Preaxial Hallucal Polydactyly |
27 |
| 1390 |
|
THR032 |
Thoracolaryngopelvic Dysplasia |
27 |
| 1391 |
c
|
PRR026 |
Perrault Syndrome 5 |
27 |
| 1392 |
|
CRT028 |
Cor Triatriatum |
27 |
| 1393 |
c
|
HLP016 |
Holoprosencephaly 11 |
27 |
| 1394 |
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
27 |
| 1395 |
c
|
EPL172 |
Epileptic Encephalopathy, Early Infantile, 42 |
27 |
| 1396 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
27 |
| 1397 |
|
PLM013 |
Pulmonary Immaturity |
27 |
| 1398 |
c
|
HYP698 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 |
27 |
| 1399 |
|
12Q002 |
12q14 Microdeletion Syndrome |
27 |
| 1400 |
c
|
EPL173 |
Epileptic Encephalopathy, Early Infantile, 47 |
27 |
| 1401 |
c
|
BRD050 |
Bardet-Biedl Syndrome 21 |
27 |
| 1402 |
c
|
EPL151 |
Epileptic Encephalopathy, Early Infantile, 31 |
27 |
| 1403 |
|
HRY005 |
Hairy Elbows |
27 |
| 1404 |
c
|
MRG010 |
Meier-Gorlin Syndrome 3 |
26 |
| 1405 |
|
FTL073 |
Fetal Anticonvulsant Syndrome |
26 |
| 1406 |
|
WLL012 |
Williams-Beuren Region Duplication Syndrome |
26 |
| 1407 |
P
|
RNL123 |
Renal Agenesis, Bilateral |
26 |
| 1408 |
|
MCR315 |
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis |
26 |
| 1409 |
|
URC005 |
Urachal Cyst |
26 |
| 1410 |
P
|
RCR026 |
Recurrent Hydatidiform Mole |
26 |
| 1411 |
|
NRD028 |
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies |
26 |
| 1412 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
26 |
| 1413 |
c
|
LKD016 |
Leukodystrophy, Hypomyelinating, 9 |
26 |
| 1414 |
c
|
ADL057 |
Adult Teratoma |
26 |
| 1415 |
|
MCR354 |
Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures |
26 |
| 1416 |
c
|
HTR009 |
Heterotaxy, Visceral, 2, Autosomal |
26 |
| 1417 |
c
|
EPL028 |
Epileptic Encephalopathy, Early Infantile, 5 |
26 |
| 1418 |
|
FTL064 |
Fetal Methylmercury Syndrome |
26 |
| 1419 |
c
|
EPL181 |
Epileptic Encephalopathy, Early Infantile, 44 |
26 |
| 1420 |
P
|
HYP714 |
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3 |
26 |
| 1421 |
c
|
TRS012 |
Trisomy 22 |
26 |
| 1422 |
|
CNG506 |
Congenital Amyoplasia |
26 |
| 1423 |
|
FTL062 |
Fetal Iodine Deficiency Disorder |
26 |
| 1424 |
P
|
PLM069 |
Pulmonary Venous Return Anomaly |
26 |
| 1425 |
c
|
MRG015 |
Meier-Gorlin Syndrome 7 |
26 |
| 1426 |
|
CHR229 |
Chromosome 20p Duplication |
26 |
| 1427 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
26 |
| 1428 |
|
CNG489 |
Congenital Herpes Simplex Virus Infection |
26 |
| 1429 |
|
WSM003 |
Weismann-Netter Syndrome |
26 |
| 1430 |
c
|
EPL159 |
Epileptic Encephalopathy, Early Infantile, 34 |
26 |
| 1431 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
26 |
| 1432 |
c
|
EPL099 |
Epileptic Encephalopathy, Early Infantile, 15 |
26 |
| 1433 |
|
UNL005 |
Unilateral Polymicrogyria |
25 |
| 1434 |
c
|
EPL127 |
Epileptic Encephalopathy, Early Infantile, 21 |
25 |
| 1435 |
|
ACR039 |
Acromegaloid Hypertrichosis Syndrome |
25 |
| 1436 |
|
BLP041 |
Blepharochalasis and Double Lip |
25 |
| 1437 |
|
MYP038 |
Myopathy, Congenital, Compton-North |
25 |
| 1438 |
|
CHR190 |
Chromosome 12p Duplication |
25 |
| 1439 |
|
MCR321 |
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation |
25 |
| 1440 |
c
|
CTR116 |
Cataract 15, Multiple Types |
25 |
| 1441 |
c
|
MNS008 |
Monosomy 21 |
25 |
| 1442 |
c
|
EPL130 |
Epileptic Encephalopathy, Early Infantile, 26 |
25 |
| 1443 |
|
NNG001 |
Non-Gestational Choriocarcinoma |
25 |
| 1444 |
c
|
EPL189 |
Epileptic Encephalopathy, Early Infantile, 37 |
25 |
| 1445 |
c
|
EPL182 |
Epileptic Encephalopathy, Early Infantile, 54 |
25 |
| 1446 |
c
|
PRR022 |
Perrault Syndrome 2 |
25 |
| 1447 |
|
16Q001 |
16q24.3 Microdeletion Syndrome |
25 |
| 1448 |
|
THR101 |
Thrombocytopenia, Paris-Trousseau Type |
25 |
| 1449 |
|
CHR248 |
Chromosome 4p Duplication |
25 |
| 1450 |
c
|
NML010 |
Nemaline Myopathy 7 |
25 |
| 1451 |
|
ISL087 |
Isolated Oxycephaly |
25 |
| 1452 |
|
CRB211 |
Cerebral Cortical Dysplasia |
25 |
| 1453 |
P
|
PHC014 |
Phocomelia |
25 |
| 1454 |
|
KPR002 |
Kapur-Toriello Syndrome |
25 |
| 1455 |
c
|
LKD021 |
Leukodystrophy, Hypomyelinating, 11 |
25 |
| 1456 |
|
CLN022 |
Colonic Atresia |
25 |
| 1457 |
P
|
PRC050 |
Pericardium Disease |
25 |
| 1458 |
c
|
PRR024 |
Perrault Syndrome 3 |
25 |
| 1459 |
c
|
FRS016 |
Fraser Syndrome 2 |
25 |
| 1460 |
|
PGD001 |
Pagod Syndrome |
25 |
| 1461 |
c
|
EPL193 |
Epileptic Encephalopathy, Early Infantile, 35 |
25 |
| 1462 |
c
|
CRN220 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
25 |
| 1463 |
c
|
PRR021 |
Perrault Syndrome 4 |
25 |
| 1464 |
c
|
EPL157 |
Epileptic Encephalopathy, Early Infantile, 30 |
25 |
| 1465 |
c
|
AML047 |
Amelogenesis Imperfecta, Type Ia |
25 |
| 1466 |
|
NSP016 |
Nasopalpebral Lipoma-Coloboma Syndrome |
25 |
| 1467 |
|
PRT043 |
Parietal Foramina with Cleidocranial Dysplasia |
25 |
| 1468 |
c
|
EPL102 |
Epileptic Encephalopathy, Early Infantile, 18 |
25 |
| 1469 |
c
|
FCL046 |
Focal Facial Dermal Dysplasia 4 |
25 |
| 1470 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
25 |
| 1471 |
c
|
MRG011 |
Meier-Gorlin Syndrome 4 |
24 |
| 1472 |
|
CHR265 |
Chromosome 8p Duplication |
24 |
| 1473 |
c
|
EPL178 |
Epileptic Encephalopathy, Early Infantile, 51 |
24 |
| 1474 |
|
CHN045 |
Chondrodysplasia with Joint Dislocations, Gpapp Type |
24 |
| 1475 |
|
CHR212 |
Chromosome 18p Duplication |
24 |
| 1476 |
|
CLF048 |
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features |
24 |
| 1477 |
|
OCL030 |
Oculoauriculofrontonasal Syndrome |
24 |
| 1478 |
c
|
BNM016 |
Bone Mineral Density Quantitative Trait Locus 1 |
24 |
| 1479 |
|
NNG002 |
Non-Gestational Ovarian Choriocarcinoma |
24 |
| 1480 |
c
|
CTR182 |
Cataract 23, Multiple Types |
24 |
| 1481 |
c
|
EPL139 |
Epileptic Encephalopathy, Early Infantile, 28 |
24 |
| 1482 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
24 |
| 1483 |
|
HGH023 |
High Bone Mass Osteogenesis Imperfecta |
24 |
| 1484 |
|
LBN004 |
Liebenberg Syndrome |
24 |
| 1485 |
c
|
CTR124 |
Cataract 10, Multiple Types |
24 |
| 1486 |
|
CHR209 |
Chromosome 17p Duplication |
24 |
| 1487 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
24 |
| 1488 |
c
|
EPL240 |
Epileptic Encephalopathy, Early Infantile, 75 |
24 |
| 1489 |
|
HRD037 |
Hardikar Syndrome |
24 |
| 1490 |
|
SPS207 |
Spastic Paraplegia and Psychomotor Retardation with or Without Seizures |
24 |
| 1491 |
c
|
MLG148 |
Malignant Hyperthermia 2 |
24 |
| 1492 |
c
|
HYD041 |
Hydatidiform Mole, Recurrent, 2 |
24 |
| 1493 |
c
|
RNG021 |
Ring Chromosome 5 |
24 |
| 1494 |
|
ULN023 |
Ulnar Hypoplasia |
24 |
| 1495 |
|
PTR034 |
Paternal Uniparental Disomy |
24 |
| 1496 |
c
|
EPL156 |
Epileptic Encephalopathy, Early Infantile, 33 |
24 |
| 1497 |
|
HLP019 |
Holoprosencephaly, Semilobar, with Craniosynostosis |
24 |
| 1498 |
c
|
EPL146 |
Epileptic Encephalopathy, Early Infantile, 32 |
24 |
| 1499 |
|
MTP023 |
Metaphyseal Dysplasia with Maxillary Hypoplasia with or Without Brachydactyly |
24 |
| 1500 |
c
|
CHR565 |
Chromosomal Deletion Syndrome |
24 |
| 1501 |
c
|
LKD022 |
Leukodystrophy, Hypomyelinating, 13 |
24 |
| 1502 |
c
|
EPL175 |
Epileptic Encephalopathy, Early Infantile, 43 |
24 |
| 1503 |
|
YNH001 |
Yuan-Harel-Lupski Syndrome |
24 |
| 1504 |
|
DGR006 |
Digeorge Syndrome/velocardiofacial Syndrome Complex 2 |
24 |
| 1505 |
c
|
CTR105 |
Cataract 12, Multiple Types |
24 |
| 1506 |
c
|
EPL179 |
Epileptic Encephalopathy, Early Infantile, 52 |
24 |
| 1507 |
|
HLZ001 |
Holzgreve Syndrome |
24 |
| 1508 |
c
|
EPL191 |
Epileptic Encephalopathy, Early Infantile, 48 |
24 |
| 1509 |
c
|
HYP831 |
Hyperparathyroidism, Transient Neonatal |
24 |
| 1510 |
c
|
EPL211 |
Epileptic Encephalopathy, Early Infantile, 56 |
24 |
| 1511 |
c
|
MRG009 |
Meier-Gorlin Syndrome 2 |
23 |
| 1512 |
c
|
BRD051 |
Bardet-Biedl Syndrome 20 |
23 |
| 1513 |
c
|
RNG024 |
Ring Chromosome 8 |
23 |
| 1514 |
c
|
EPL125 |
Epileptic Encephalopathy, Early Infantile, 24 |
23 |
| 1515 |
c
|
EPL233 |
Epileptic Encephalopathy, Early Infantile, 69 |
23 |
| 1516 |
c
|
MRG014 |
Meier-Gorlin Syndrome 6 |
23 |
| 1517 |
c
|
EPL190 |
Epileptic Encephalopathy, Early Infantile, 49 |
23 |
| 1518 |
|
CHR621 |
Chromosome 16p11.2 Deletion Syndrome, 593-Kb |
23 |
| 1519 |
c
|
JVN025 |
Juvenile Primary Osteoporosis |
23 |
| 1520 |
P
|
ART034 |
Aortopulmonary Window |
23 |
| 1521 |
|
RDL039 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
23 |
| 1522 |
c
|
GLP007 |
Geleophysic Dysplasia 3 |
23 |
| 1523 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
23 |
| 1524 |
|
HRT018 |
Heart-Hand Syndrome, Slovenian Type |
23 |
| 1525 |
c
|
NML021 |
Nemaline Myopathy 9 |
23 |
| 1526 |
c
|
ANM049 |
Anemia, Congenital Dyserythropoietic, Type Ib |
23 |
| 1527 |
c
|
HTR018 |
Heterotaxy, Visceral, 7, Autosomal |
23 |
| 1528 |
|
CHR498 |
Chromosome 16p11.2 Duplication Syndrome |
23 |
| 1529 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
23 |
| 1530 |
|
CHR252 |
Chromosome 5p Duplication |
23 |
| 1531 |
c
|
DKP001 |
Dk Phocomelia Syndrome |
23 |
| 1532 |
c
|
EPL153 |
Epileptic Encephalopathy, Early Infantile, 29 |
23 |
| 1533 |
c
|
EPL223 |
Epileptic Encephalopathy, Early Infantile, 64 |
23 |
| 1534 |
c
|
EPL126 |
Epileptic Encephalopathy, Early Infantile, 19 |
23 |
| 1535 |
c
|
HTR023 |
Heterotaxy, Visceral, 6, Autosomal |
23 |
| 1536 |
|
TTR016 |
Tetra-Amelia Syndrome |
23 |
| 1537 |
c
|
HLP022 |
Holoprosencephaly 8 |
23 |
| 1538 |
c
|
EPL194 |
Epileptic Encephalopathy, Early Infantile, 55 |
23 |
| 1539 |
|
INT312 |
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies |
23 |
| 1540 |
|
SCH055 |
Schilbach-Rott Syndrome |
23 |
| 1541 |
|
ORF053 |
Orofacial Clefting Syndrome |
23 |
| 1542 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
23 |
| 1543 |
c
|
LKD023 |
Leukodystrophy, Hypomyelinating, 12 |
23 |
| 1544 |
c
|
EPL222 |
Epileptic Encephalopathy, Early Infantile, 63 |
23 |
| 1545 |
c
|
LKD030 |
Leukodystrophy, Hypomyelinating, 17 |
23 |
| 1546 |
|
CHN050 |
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia |
23 |
| 1547 |
|
OSB001 |
Osebold-Remondini Syndrome |
23 |
| 1548 |
|
CMB084 |
Combined Oxidative Phosphorylation Deficiency 34 |
23 |
| 1549 |
c
|
CCK004 |
Cockayne Syndrome Type Iii |
23 |
| 1550 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
23 |
| 1551 |
c
|
EPL234 |
Epileptic Encephalopathy, Early Infantile, 70 |
23 |
| 1552 |
|
LLS001 |
Lelis Syndrome |
22 |
| 1553 |
|
VNT030 |
Ventriculomegaly with Cystic Kidney Disease |
22 |
| 1554 |
c
|
EPL180 |
Epileptic Encephalopathy, Early Infantile, 41 |
22 |
| 1555 |
|
RDL022 |
Radial Hemimelia |
22 |
| 1556 |
c
|
LKD031 |
Leukodystrophy, Hypomyelinating, 18 |
22 |
| 1557 |
c
|
EPL232 |
Epileptic Encephalopathy, Early Infantile, 68 |
22 |
| 1558 |
c
|
EPL241 |
Epileptic Encephalopathy, Early Infantile, 76 |
22 |
| 1559 |
c
|
ORF041 |
Orofaciodigital Syndrome X |
22 |
| 1560 |
c
|
AML048 |
Amelogenesis Imperfecta, Type Ih |
22 |
| 1561 |
c
|
RNG019 |
Ring Chromosome 3 |
22 |
| 1562 |
|
DPL009 |
Duplication of the Pituitary Gland |
22 |
| 1563 |
c
|
BRN086 |
Branchiootorenal Syndrome 2 |
22 |
| 1564 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
22 |
| 1565 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
22 |
| 1566 |
c
|
EPL221 |
Epileptic Encephalopathy, Early Infantile, 62 |
22 |
| 1567 |
P
|
ERL043 |
Early-Onset Nuclear Cataract |
22 |
| 1568 |
c
|
PTN013 |
Patent Ductus Arteriosus 2 |
22 |
| 1569 |
|
CHR586 |
Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb |
22 |
| 1570 |
|
JNT001 |
Joint Laxity, Familial |
22 |
| 1571 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
22 |
| 1572 |
|
CRB165 |
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation |
22 |
| 1573 |
c
|
EPL224 |
Epileptic Encephalopathy, Early Infantile, 65 |
22 |
| 1574 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
22 |
| 1575 |
c
|
MRG012 |
Meier-Gorlin Syndrome 5 |
22 |
| 1576 |
c
|
ACR105 |
Acrofrontofacionasal Dysostosis 2 |
22 |
| 1577 |
c
|
FRS015 |
Fraser Syndrome 3 |
22 |
| 1578 |
c
|
EPL216 |
Epileptic Encephalopathy, Early Infantile, 59 |
22 |
| 1579 |
c
|
BRN138 |
Branchiootorenal Spectrum Disorder |
22 |
| 1580 |
c
|
MCK020 |
Meckel Syndrome, Type 11 |
22 |
| 1581 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
22 |
| 1582 |
c
|
EPL171 |
Epileptic Encephalopathy, Early Infantile, 38 |
22 |
| 1583 |
c
|
EPL176 |
Epileptic Encephalopathy, Early Infantile, 46 |
22 |
| 1584 |
c
|
HYP517 |
Hypoplastic Left Heart Syndrome 2 |
22 |
| 1585 |
c
|
AML018 |
Amelogenesis Imperfecta, Type Ic |
22 |
| 1586 |
|
SPN189 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
22 |
| 1587 |
|
MLT173 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability |
21 |
| 1588 |
c
|
EPL174 |
Epileptic Encephalopathy, Early Infantile, 45 |
21 |
| 1589 |
|
DFF027 |
Diffuse Lymphatic Malformation |
21 |
| 1590 |
|
CRS011 |
Criss-Cross Heart |
21 |
| 1591 |
c
|
CRN306 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
21 |
| 1592 |
c
|
MLG149 |
Malignant Hyperthermia 3 |
21 |
| 1593 |
c
|
EPL235 |
Epileptic Encephalopathy, Early Infantile, 71 |
21 |
| 1594 |
c
|
EPL229 |
Epileptic Encephalopathy, Early Infantile, 67 |
21 |
| 1595 |
|
DFN308 |
Deafness, Progressive, with Stapes Fixation |
21 |
| 1596 |
c
|
MLG150 |
Malignant Hyperthermia 4 |
21 |
| 1597 |
c
|
EPL218 |
Epileptic Encephalopathy, Early Infantile, 60 |
21 |
| 1598 |
|
ORB019 |
Orbital Margin, Hypoplasia of |
21 |
| 1599 |
|
ALR004 |
Alar Cleft, Isolated |
21 |
| 1600 |
|
VNF001 |
Vein of Galen Aneurysm |
21 |
| 1601 |
|
BLT020 |
Bilateral Multicystic Dysplastic Kidney |
21 |
| 1602 |
c
|
MCK036 |
Meckel Syndrome, Type 9 |
21 |
| 1603 |
|
IST006 |
Isotretinoin Syndrome |
21 |
| 1604 |
|
LNG101 |
Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome |
21 |
| 1605 |
c
|
HTR020 |
Heterotaxy, Visceral, 8, Autosomal |
21 |
| 1606 |
|
ECT085 |
Ectopia Cordis |
21 |
| 1607 |
c
|
EPL219 |
Epileptic Encephalopathy, Early Infantile, 61 |
21 |
| 1608 |
c
|
AML059 |
Amelogenesis Imperfecta, Type Ij |
21 |
| 1609 |
|
OPT058 |
Optic Disc Anomalies with Retinal and/or Macular Dystrophy |
21 |
| 1610 |
c
|
EPL238 |
Epileptic Encephalopathy, Early Infantile, 73 |
21 |
| 1611 |
|
DPR014 |
Diprosopus |
21 |
| 1612 |
|
MSM019 |
Mesomelic Dysplasia, Savarirayan Type |
21 |
| 1613 |
c
|
EPL239 |
Epileptic Encephalopathy, Early Infantile, 74 |
20 |
| 1614 |
c
|
INT005 |
Intermediate Malignant Teratoma |
20 |
| 1615 |
c
|
EPL226 |
Epileptic Encephalopathy, Early Infantile, 66 |
20 |
| 1616 |
c
|
RNG025 |
Ring Chromosome 9 |
20 |
| 1617 |
c
|
EPL215 |
Epileptic Encephalopathy, Early Infantile, 58 |
20 |
| 1618 |
|
TTR019 |
Tetrasomy 5p |
20 |
| 1619 |
|
CHN064 |
Chondrodysplasia-Pseudohermaphroditism Syndrome |
20 |
| 1620 |
c
|
AML050 |
Amelogenesis Imperfecta, Type if |
20 |
| 1621 |
|
ATR053 |
Atresia of Urethra |
20 |
| 1622 |
|
RTH002 |
Rutherfurd Syndrome |
20 |
| 1623 |
c
|
EPL237 |
Epileptic Encephalopathy, Early Infantile, 72 |
20 |
| 1624 |
|
SPL057 |
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects |
20 |
| 1625 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
20 |
| 1626 |
|
CRT061 |
Cor Triatriatum Dexter |
20 |
| 1627 |
c
|
EPL177 |
Epileptic Encephalopathy, Early Infantile, 40 |
20 |
| 1628 |
|
MSC017 |
Mosaic Trisomy 22 |
20 |
| 1629 |
|
ERM001 |
Ermine Phenotype |
20 |
| 1630 |
|
TBL030 |
Tibial Aplasia-Ectrodactyly Syndrome |
20 |
| 1631 |
c
|
MTP014 |
Metaphyseal Anadysplasia 2 |
20 |
| 1632 |
|
8PN001 |
8p Inverted Duplication/deletion Syndrome |
20 |
| 1633 |
c
|
RNL099 |
Renal Hypodysplasia/aplasia 2 |
20 |
| 1634 |
|
SYN112 |
Syndromic Microphthalmia-Anophthalmia-Coloboma |
20 |
| 1635 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
20 |
| 1636 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
19 |
| 1637 |
c
|
MLG152 |
Malignant Hyperthermia 6 |
19 |
| 1638 |
|
CHR483 |
Chromosome 3q13.31 Deletion Syndrome |
19 |
| 1639 |
c
|
CHR227 |
Chromosome 20 Trisomy |
19 |
| 1640 |
|
CHR241 |
Chromosome 2q24 Microdeletion Syndrome |
19 |
| 1641 |
c
|
ATS454 |
Autosomal Trisomy |
19 |
| 1642 |
c
|
RNG006 |
Ring Chromosome 11 |
19 |
| 1643 |
c
|
EPL213 |
Epileptic Encephalopathy, Early Infantile, 57 |
19 |
| 1644 |
|
PRG122 |
Prognathism, Mandibular |
19 |
| 1645 |
|
DRM042 |
Dermatoosteolysis, Kirghizian Type |
19 |
| 1646 |
|
CRB161 |
Cerebellar Ataxia and Ectodermal Dysplasia |
19 |
| 1647 |
|
FCL068 |
Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome |
19 |
| 1648 |
c
|
PRR033 |
Perrault Syndrome 6 |
19 |
| 1649 |
|
RGH010 |
Right Ventricular Hypoplasia, Isolated |
19 |
| 1650 |
|
ODN020 |
Odontoma-Dysphagia Syndrome |
19 |
| 1651 |
c
|
MRG016 |
Meier-Gorlin Syndrome 8 |
19 |
| 1652 |
|
PRR029 |
Pierre Robin Syndrome and Oligodactyly |
19 |
| 1653 |
|
UNL014 |
Unilateral Multicystic Dysplastic Kidney |
18 |
| 1654 |
|
FTL018 |
Fetal Indomethacin Syndrome |
18 |
| 1655 |
|
SPL056 |
Split-Foot Deformity with Mandibulofacial Dysostosis |
18 |
| 1656 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
18 |
| 1657 |
|
CLF033 |
Cleft Mitral Valve |
18 |
| 1658 |
|
OCL057 |
Oculotrichodysplasia |
18 |
| 1659 |
|
ZCH002 |
Zechi-Ceide Syndrome |
18 |
| 1660 |
|
PLD002 |
Pilodental Dysplasia with Refractive Errors |
18 |
| 1661 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
18 |
| 1662 |
|
HMF007 |
Hemifacial Hyperplasia with Strabismus |
18 |
| 1663 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
18 |
| 1664 |
|
1QD001 |
1q Duplications |
18 |
| 1665 |
|
EPB002 |
Epiblepharon |
18 |
| 1666 |
|
FCD002 |
Faciodigitogenital Syndrome, Autosomal Recessive |
18 |
| 1667 |
|
LMB057 |
Lumbosacral Spina Bifida Aperta |
18 |
| 1668 |
|
MCR307 |
Microspherophakia-Metaphyseal Dysplasia |
18 |
| 1669 |
|
PRM334 |
Primary Bone Dysplasia with Increased Bone Density |
18 |
| 1670 |
|
ATR019 |
Atrial Septal Defect Sinus Venosus |
18 |
| 1671 |
|
KPS005 |
Kaposiform Lymphangiomatosis |
18 |
| 1672 |
P
|
ATS469 |
Autosomal Monosomy |
18 |
| 1673 |
|
DST059 |
Distal Trisomy 17q |
18 |
| 1674 |
|
SBR011 |
Subaortic Stenosis--Short Stature Syndrome |
18 |
| 1675 |
|
PSD103 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies |
17 |
| 1676 |
|
UPN001 |
Upington Disease |
17 |
| 1677 |
c
|
PRG096 |
Pregnancy Loss, Recurrent 2 |
17 |
| 1678 |
|
RDL030 |
Radial-Renal Syndrome |
17 |
| 1679 |
|
CHR612 |
Chromosome 15q14 Deletion Syndrome |
17 |
| 1680 |
|
DST037 |
Distal Monosomy 9p |
17 |
| 1681 |
c
|
AML064 |
Amelogenesis Imperfecta, Type Iiic |
17 |
| 1682 |
|
MMB012 |
Membranous Cranial Ossification, Delayed |
17 |
| 1683 |
|
HLP020 |
Holoprosencephaly with Fetal Akinesia/hypokinesia Sequence |
17 |
| 1684 |
|
MCR303 |
Macrosomia with Microphthalmia, Lethal |
17 |
| 1685 |
|
ILL003 |
Illum Syndrome |
17 |
| 1686 |
|
SMS004 |
Simosa Craniofacial Syndrome |
17 |
| 1687 |
|
UPP007 |
Upper Thoracic Spina Bifida Cystica |
17 |
| 1688 |
|
UPP008 |
Upper Thoracic Spina Bifida Aperta |
17 |
| 1689 |
|
THR085 |
Thoracolumbosacral Spina Bifida Aperta |
17 |
| 1690 |
|
ANR043 |
Aniridia and Absent Patella |
17 |
| 1691 |
|
MSC081 |
Mosaic Trisomy 15 |
17 |
| 1692 |
|
DRL001 |
Dural Sinus Malformation |
17 |
| 1693 |
|
TBL027 |
Tubulinopathy-Associated Dysgyria |
17 |
| 1694 |
c
|
RNG014 |
Ring Chromosome 19 |
17 |
| 1695 |
|
FBL018 |
Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities |
17 |
| 1696 |
|
CMP074 |
Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye |
17 |
| 1697 |
|
ANM074 |
Anomalous Origin of Coronary Artery from the Pulmonary Artery |
17 |
| 1698 |
c
|
RNG011 |
Ring Chromosome 16 |
17 |
| 1699 |
|
ANG067 |
Angioma, Hereditary Neurocutaneous |
17 |
| 1700 |
c
|
HLP021 |
Holoprosencephaly 6 |
17 |
| 1701 |
c
|
BNM031 |
Bone Mineral Density Quantitative Trait Locus 17 |
17 |
| 1702 |
|
MSM018 |
Mesomelic Limb Shortening and Bowing |
17 |
| 1703 |
c
|
NNS019 |
Nonsyndromic Holoprosencephaly |
17 |
| 1704 |
|
CMM018 |
Common Mesentery |
17 |
| 1705 |
c
|
CNG540 |
Congenital Anomalies of Kidney and Urinary Tract 3 |
16 |
| 1706 |
|
BND017 |
Bone Dysplasia, Lethal, Holmgren Type |
16 |
| 1707 |
|
SPS192 |
Spastic Paraparesis and Deafness |
16 |
| 1708 |
|
CLF034 |
Cleft Hard Palate |
16 |
| 1709 |
|
ISL118 |
Isolated Tracheoesophageal Fistula |
16 |
| 1710 |
|
CNT114 |
Central Nervous System Malformation |
16 |
| 1711 |
|
BLT023 |
Bilateral Acute Depigmentation of the Iris |
16 |
| 1712 |
|
BKS002 |
Book Syndrome |
16 |
| 1713 |
c
|
PTS018 |
Ptosis, Hereditary Congenital 1 |
16 |
| 1714 |
|
TRG007 |
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet |
16 |
| 1715 |
|
AML012 |
Ameloonychohypohidrotic Syndrome |
16 |
| 1716 |
|
BWN005 |
Bowing of Long Bones Congenital |
16 |
| 1717 |
|
MTH070 |
Methimazole Antenatal Exposure |
16 |
| 1718 |
c
|
MTR067 |
Maternal Uniparental Disomy of Chromosome 16 |
16 |
| 1719 |
|
BMR004 |
Beemer Lethal Malformation Syndrome |
16 |
| 1720 |
|
TRS011 |
Trisomy 2 Mosaicism |
16 |
| 1721 |
|
CMP073 |
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia |
16 |
| 1722 |
|
ANR044 |
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation |
16 |
| 1723 |
|
DDL001 |
Didelphys Uterus |
16 |
| 1724 |
|
16P003 |
16p13.11 Microdeletion Syndrome |
16 |
| 1725 |
c
|
AML056 |
Amelogenesis Imperfecta, Type Iiib |
16 |
| 1726 |
|
DPH023 |
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects of Skull |
16 |
| 1727 |
|
HYD021 |
Hydrocephalus Obesity Hypogonadism |
16 |
| 1728 |
|
TLP002 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals |
16 |
| 1729 |
|
DYS183 |
Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas |
16 |
| 1730 |
|
PCT002 |
Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails |
16 |
| 1731 |
|
PYK001 |
Pyknoachondrogenesis |
16 |
| 1732 |
|
GTR012 |
Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies |
16 |
| 1733 |
|
HML049 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities |
16 |
| 1734 |
|
ULN021 |
Ulnar Hypoplasia with Lobster-Claw Deformity of Feet |
16 |
| 1735 |
|
TND002 |
Tendons, Extensor, of Fingers, Anomalous Insertion of |
16 |
| 1736 |
|
ENC043 |
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration |
16 |
| 1737 |
|
SBP005 |
Subpulmonary Stenosis |
15 |
| 1738 |
c
|
PTS010 |
Ptosis, Hereditary Congenital 2 |
15 |
| 1739 |
|
DSL002 |
Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism |
15 |
| 1740 |
|
XP2001 |
Xp22.3 Microdeletion Syndrome |
15 |
| 1741 |
|
OST148 |
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts |
15 |
| 1742 |
|
TTH022 |
Teeth, Congenital Absence of, with Taurodontia and Sparse Hair |
15 |
| 1743 |
|
ODN008 |
Odontomicronychial Dysplasia |
15 |
| 1744 |
c
|
PRG093 |
Pregnancy Loss, Recurrent 3 |
15 |
| 1745 |
|
LSS034 |
Lissencephaly Type Iii and Bone Dysplasia |
15 |
| 1746 |
|
ECT086 |
Ectrodactyly-Polydactyly |
15 |
| 1747 |
|
ESP040 |
Esophageal Duplication Cyst |
15 |
| 1748 |
|
VNT031 |
Ventricular Extrasystoles with Syncope, Perodactyly, and Robin Sequence |
15 |
| 1749 |
|
CRT079 |
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta |
15 |
| 1750 |
|
OST061 |
Osteosclerosis with Ichthyosis and Premature Ovarian Failure |
15 |
| 1751 |
c
|
HYD068 |
Hydatidiform Mole, Recurrent, 4 |
15 |
| 1752 |
|
VLF001 |
Velofacioskeletal Syndrome |
15 |
| 1753 |
|
ECT091 |
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type |
15 |
| 1754 |
|
NDL022 |
Nodular Neuronal Heterotopia |
15 |
| 1755 |
|
PRT237 |
Partial Deletion of the Long Arm of Chromosome 16 |
15 |
| 1756 |
|
3Q2006 |
3q27.3 Microdeletion Syndrome |
15 |
| 1757 |
P
|
LTH050 |
Lethal Chondrodysplasia |
15 |
| 1758 |
c
|
CTR176 |
Cataract, Age-Related Nuclear |
15 |
| 1759 |
|
HYD051 |
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis |
15 |
| 1760 |
|
ECT087 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
15 |
| 1761 |
c
|
HTR012 |
Heterotaxy, Visceral, 3, Autosomal |
15 |
| 1762 |
|
MCR242 |
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma |
15 |
| 1763 |
|
OVR110 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
15 |
| 1764 |
|
ADC008 |
Adactylia, Unilateral |
15 |
| 1765 |
|
CMP079 |
Complete Septate Uterus |
15 |
| 1766 |
|
RDL028 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, and Maxillary Diastema |
15 |
| 1767 |
|
FRN047 |
Frontonasal Dysplasia with Alar Clefts |
15 |
| 1768 |
|
TYS007 |
Tyshchenko Syndrome |
15 |
| 1769 |
|
RNL109 |
Renal Hypoplasia, Bilateral |
15 |
| 1770 |
|
SPS196 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy |
14 |
| 1771 |
|
PRB002 |
Proboscis Lateralis |
14 |
| 1772 |
|
PRR030 |
Pierre Robin Sequence with Facial and Digital Anomalies |
14 |
| 1773 |
|
PHL009 |
Phalangeal Microgeodic Syndrome |
14 |
| 1774 |
c
|
MTR061 |
Maternal Uniparental Disomy of Chromosome 6 |
14 |
| 1775 |
|
CMP098 |
Complex Vascular Malformation with Associated Anomalies |
14 |
| 1776 |
c
|
ISC010 |
Isochromosome Yp |
14 |
| 1777 |
|
20Q003 |
20q11.2 Microdeletion Syndrome |
14 |
| 1778 |
|
PRS111 |
Persistent Fifth Aortic Arch |
14 |
| 1779 |
c
|
BNM021 |
Bone Mineral Density Quantitative Trait Locus 7 |
14 |
| 1780 |
c
|
SLV020 |
Silver-Russell Syndrome Due to a Point Mutation |
14 |
| 1781 |
|
BNK001 |
Banki Syndrome |
14 |
| 1782 |
|
PSD102 |
Pseudohermaphroditism, Female, with Skeletal Anomalies |
14 |
| 1783 |
|
UMB001 |
Umbilical Cord Ulceration and Intestinal Atresia |
14 |
| 1784 |
|
FRT004 |
Fourth Branchial Cleft Anomaly |
14 |
| 1785 |
|
RCT033 |
Rectal Duplication |
14 |
| 1786 |
|
49X005 |
49, Xxxyy Syndrome |
14 |
| 1787 |
|
VCL007 |
Vocal Cord Paralysis and Ptosis |
14 |
| 1788 |
|
DST069 |
Distal Monosomy 12q |
14 |
| 1789 |
|
EPP005 |
Epiphyseal Dysplasia Hearing Loss Dysmorphism |
13 |
| 1790 |
c
|
PTR011 |
Paternal Uniparental Disomy of Chromosome 1 |
13 |
| 1791 |
|
CMP022 |
Camptodactyly Taurinuria |
13 |
| 1792 |
|
MSC079 |
Mosaic Trisomy 1 |
13 |
| 1793 |
c
|
CMP100 |
Campomelic Dysplasia and Related Disorders |
13 |
| 1794 |
|
CRY037 |
Cryptophthalmia |
13 |
| 1795 |
|
PRT178 |
Partial Deletion of the Long Arm of Chromosome 5 |
13 |
| 1796 |
|
RDL031 |
Radial Aplasia, X-Linked |
13 |
| 1797 |
|
GRH002 |
Graham Boyle Troxell Syndrome |
13 |
| 1798 |
|
CRN310 |
Cranial Malformation |
13 |
| 1799 |
|
20P001 |
20p12.3 Microdeletion Syndrome |
13 |
| 1800 |
c
|
RNG031 |
Ring Chromosome Y Syndrome |
13 |
| 1801 |
|
CNG344 |
Congenital Anomaly of the Inferior Vena Cava |
13 |
| 1802 |
|
CNG587 |
Congenital Limb Malformation |
13 |
| 1803 |
|
CNG235 |
Congenital Microgastria |
13 |
| 1804 |
|
8P1001 |
8p11.2 Deletion Syndrome |
13 |
| 1805 |
|
DST038 |
Distal Monosomy 7q36 |
13 |
| 1806 |
|
LBR027 |
Laubry-Pezzi Syndrome |
13 |
| 1807 |
|
SCL050 |
Scoliosis, Arachnodactyly, and Blindness |
13 |
| 1808 |
P
|
FRS017 |
Fraser-Like Syndrome |
13 |
| 1809 |
|
VNB001 |
Van Benthem-Driessen-Hanveld Syndrome |
13 |
| 1810 |
|
LTR017 |
Lateral Facial Cleft |
13 |
| 1811 |
|
11Q001 |
11q22.2q22.3 Microdeletion Syndrome |
12 |
| 1812 |
|
49X004 |
49,xyyyy Syndrome |
12 |
| 1813 |
|
PLT010 |
Pili Torti Onychodysplasia |
12 |
| 1814 |
|
TRN045 |
True Unicornuate Uterus |
12 |
| 1815 |
|
VRT011 |
Vertebral Fusion, Posterior Lumbosacral, with Blepharoptosis |
12 |
| 1816 |
c
|
ORF006 |
Orofaciodigital Syndrome 13 |
12 |
| 1817 |
|
XP2002 |
Xp22.13p22.2 Duplication Syndrome |
12 |
| 1818 |
|
GLS016 |
Glossopalatine Ankylosis |
12 |
| 1819 |
|
PRM319 |
Primary Bone Dysplasia |
12 |
| 1820 |
|
ISL111 |
Isolated Arrhinia |
12 |
| 1821 |
|
BRN122 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
12 |
| 1822 |
|
CNG335 |
Congenital Ectropion Uveae |
12 |
| 1823 |
c
|
CNG343 |
Congenital Coronary Artery Aneurysm |
12 |
| 1824 |
|
PRT180 |
Partial Deletion of the Long Arm of Chromosome 7 |
12 |
| 1825 |
|
LPM011 |
Lip, Median Nodule of Upper |
12 |
| 1826 |
|
DVR007 |
Diverticulosis of Bowel, Hernia, and Retinal Detachment |
12 |
| 1827 |
|
APR008 |
Aprosencephaly and Cerebellar Dysgenesis |
12 |
| 1828 |
|
CTR151 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
12 |
| 1829 |
|
DNC006 |
Diencephalic-Mesencephalic Junction Dysplasia |
12 |
| 1830 |
|
FNG014 |
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature |
12 |
| 1831 |
|
NND003 |
Non-Distal Trisomy 10q |
12 |
| 1832 |
c
|
RRC022 |
Rare Chromosomal Anomaly |
12 |
| 1833 |
|
CRN307 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
12 |
| 1834 |
|
THR083 |
Third Branchial Cleft Anomaly |
12 |
| 1835 |
|
CLF040 |
Cleft Lip-Retinopathy Syndrome |
11 |
| 1836 |
|
PTR014 |
Paternal 20q13.2q13.3 Microdeletion Syndrome |
11 |
| 1837 |
|
CNG357 |
Congenital Symblepharon |
11 |
| 1838 |
|
10Q002 |
10q22.3q23.3 Microduplication Syndrome |
11 |
| 1839 |
|
DPL010 |
Duplication of the Esophagus |
11 |
| 1840 |
c
|
BNM017 |
Bone Mineral Density Quantitative Trait Locus 2 |
11 |
| 1841 |
|
SPS188 |
Spastic Paraplegia-Paget Disease of Bone Syndrome |
11 |
| 1842 |
c
|
MTC199 |
Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis |
11 |
| 1843 |
c
|
TRS033 |
Trisomy 18-Like Syndrome |
11 |
| 1844 |
|
PRT186 |
Partial Duplication of the Long Arm of Chromosome X |
11 |
| 1845 |
|
OST142 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
11 |
| 1846 |
|
MDL028 |
Midline Cerebral Malformation |
11 |
| 1847 |
|
DST055 |
Distal 22q11.2 Microduplication Syndrome |
11 |
| 1848 |
|
CRV060 |
Cervical Dermoid Cyst |
11 |
| 1849 |
c
|
CNG455 |
Congenital Aortopulmonary Window |
11 |
| 1850 |
c
|
CHR161 |
Chiari Malformation Type 3 |
11 |
| 1851 |
|
PRS112 |
Persistent Eustachian Valve |
11 |
| 1852 |
|
HYP671 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
11 |
| 1853 |
|
DST052 |
Distal 7q11.23 Microduplication Syndrome |
11 |
| 1854 |
c
|
PRM246 |
Primary Tethered Cord Syndrome |
11 |
| 1855 |
|
MCR186 |
Microtriplication 11q24.1 |
10 |
| 1856 |
c
|
RRD018 |
Rare Disease with Pierre Robin Syndrome |
10 |
| 1857 |
|
ERL036 |
Early-Onset Posterior Subcapsular Cataract |
10 |
| 1858 |
c
|
BNM023 |
Bone Mineral Density Quantitative Trait Locus 9 |
10 |
| 1859 |
c
|
BNM024 |
Bone Mineral Density Quantitative Trait Locus 10 |
10 |
| 1860 |
c
|
BNM026 |
Bone Mineral Density Quantitative Trait Locus 12 |
10 |
| 1861 |
c
|
BNM028 |
Bone Mineral Density Quantitative Trait Locus 14 |
10 |
| 1862 |
|
PRT165 |
Partial Deletion of the Short Arm of Chromosome 7 |
10 |
| 1863 |
|
ATS453 |
Autosomal Anomaly |
10 |
| 1864 |
|
PHN013 |
Phenobarbital Antenatal Exposure |
10 |
| 1865 |
|
46X015 |
46,xy Ovotesticular Disorder of Sex Development |
10 |
| 1866 |
|
OST114 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
10 |
| 1867 |
|
THN011 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
10 |
| 1868 |
|
ERL027 |
Early-Onset Non-Syndromic Cataract |
10 |
| 1869 |
|
MSC088 |
Mosaic Trisomy 5 |
10 |
| 1870 |
|
LRY034 |
Laryngotracheal Angioma |
10 |
| 1871 |
|
PRT144 |
Partial Deletion of Chromosome 2 |
10 |
| 1872 |
|
NND005 |
Non-Distal Trisomy 13q |
10 |
| 1873 |
|
PRT160 |
Partial Deletion of the Short Arm of Chromosome 4 |
10 |
| 1874 |
|
INV014 |
Inverse Klippel-Trenaunay Syndrome |
10 |
| 1875 |
c
|
BNM019 |
Bone Mineral Density Quantitative Trait Locus 5 |
10 |
| 1876 |
|
RNL107 |
Renal Dysplasia, Bilateral |
10 |
| 1877 |
|
4P1001 |
4p16.3 Microduplication Syndrome |
10 |
| 1878 |
c
|
FML317 |
Familial Monosomy 7 Syndrome |
10 |
| 1879 |
|
NND004 |
Non-Distal Monosomy 10q |
10 |
| 1880 |
|
DST079 |
Distal Trisomy 5q |
10 |
| 1881 |
|
DST089 |
Distal Trisomy 3p |
10 |
| 1882 |
c
|
ANG059 |
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 |
10 |
| 1883 |
|
DNN007 |
Duane Anomaly-Myopathy-Scoliosis Syndrome |
10 |
| 1884 |
|
PRC042 |
Parachute Tricuspid Valve |
10 |
| 1885 |
|
CRN207 |
Coronary Sinus Stenosis |
10 |
| 1886 |
|
PRC041 |
Pericardial and Diaphragmatic Defect |
10 |
| 1887 |
c
|
BNM025 |
Bone Mineral Density Quantitative Trait Locus 11 |
10 |
| 1888 |
c
|
BNM027 |
Bone Mineral Density Quantitative Trait Locus 13 |
10 |
| 1889 |
|
PRT204 |
Partial Duplication of the Long Arm of Chromosome 4 |
10 |
| 1890 |
|
CNT102 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
10 |
| 1891 |
|
SYN143 |
Syndromic Telecanthus |
10 |
| 1892 |
c
|
AML063 |
Amelogenesis Imperfecta Type 2a1 |
10 |
| 1893 |
|
SYN148 |
Syndromic Aniridia |
10 |
| 1894 |
|
PRT215 |
Partial Duplication of the Short Arm of Chromosome 2 |
10 |
| 1895 |
c
|
RRR004 |
Rare Arteriovenous Malformation |
10 |
| 1896 |
|
ANG057 |
Angioosteohypotrophic Syndrome |
10 |
| 1897 |
|
DST085 |
Distal Trisomy 2q |
10 |
| 1898 |
|
PTS015 |
Ptosis-Upper Ocular Movement Limitation-Absence of Lacrimal Punctum Syndrome |
9 |
| 1899 |
|
PRT106 |
Partial Duplication of the Short Arm of Chromosome X |
9 |
| 1900 |
c
|
PTL011 |
Patella, Familial Recurrent Dislocation of |
9 |
| 1901 |
c
|
BNM014 |
Bone Mineral Density Quantitative Trait Locus 4 |
9 |
| 1902 |
c
|
BNM020 |
Bone Mineral Density Quantitative Trait Locus 6 |
9 |
| 1903 |
|
RRV006 |
Rare Venous Malformation |
9 |
| 1904 |
|
DST071 |
Distal Monosomy 19p13.3 |
9 |
| 1905 |
|
PRT219 |
Partial Duplication of the Short Arm of Chromosome 6 |
9 |
| 1906 |
|
DST076 |
Distal Trisomy 13q |
9 |
| 1907 |
|
ARC022 |
Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome |
9 |
| 1908 |
|
MRR013 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
9 |
| 1909 |
|
XLN204 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
9 |
| 1910 |
|
INV017 |
Inverse Marcus-Gunn Phenomenon |
9 |
| 1911 |
|
OST144 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
9 |
| 1912 |
c
|
CNG398 |
Congenital Pulmonary Airway Malformation Type 1 |
9 |
| 1913 |
|
PRT218 |
Partial Duplication of the Short Arm of Chromosome 3 |
9 |
| 1914 |
|
PRT162 |
Partial Deletion of the Short Arm of Chromosome 6 |
9 |
| 1915 |
|
PRT202 |
Partial Duplication of the Long Arm of Chromosome 6 |
9 |
| 1916 |
c
|
MCR185 |
Macrodactyly of Toes |
9 |
| 1917 |
c
|
CNG249 |
Congenital Pulmonary Venous Return Anomaly |
9 |
| 1918 |
c
|
SCN085 |
Secondary Ectropion |
9 |
| 1919 |
|
DST078 |
Distal Trisomy 6q |
9 |
| 1920 |
|
DVL026 |
Developmental Defect of the Eye |
9 |
| 1921 |
|
ECT107 |
Ectasia of the Left Atrial Appendage |
9 |
| 1922 |
c
|
CNG251 |
Congenital Pericardium Anomaly |
9 |
| 1923 |
|
9Q3002 |
9q33.3q34.11 Microdeletion Syndrome |
9 |
| 1924 |
|
ESP045 |
Esophageal Malformation |
9 |
| 1925 |
c
|
ANG052 |
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 |
9 |
| 1926 |
P
|
PRT196 |
Partial Trisomy of the Long Arm of Chromosome 16 |
9 |
| 1927 |
|
TBF001 |
Tibio-Fibular Synostosis |
9 |
| 1928 |
|
ACC010 |
Accessory Tricuspid Valve Tissue |
9 |
| 1929 |
|
DYS044 |
Dysmorphism Cleft Palate Loose Skin |
9 |
| 1930 |
|
CNT077 |
Central Bilateral Macrogyria |
9 |
| 1931 |
|
PRT241 |
Partial Deletion of the Long Arm of Chromosome 20 |
9 |
| 1932 |
|
DST057 |
Distal Trisomy 19q |
9 |
| 1933 |
|
RNL106 |
Renal Dysplasia, Unilateral |
9 |
| 1934 |
|
OST146 |
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome |
9 |
| 1935 |
P
|
PRM337 |
Primary Osteolysis |
8 |
| 1936 |
|
FRN052 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
8 |
| 1937 |
|
PRT174 |
Partial Deletion of the Long Arm of Chromosome 1 |
8 |
| 1938 |
|
CNG288 |
Congenital Absence of Upper Arm and Forearm with Hand Present |
8 |
| 1939 |
|
DST090 |
Distal Trisomy 2p |
8 |
| 1940 |
|
TRS020 |
Tarsal Kink Syndrome |
8 |
| 1941 |
P
|
PRT183 |
Partial Monosomy of the Long Arm of Chromosome 10 |
8 |
| 1942 |
|
PRT230 |
Partial Duplication of Chromosome 3 |
8 |
| 1943 |
|
MCR301 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
8 |
| 1944 |
|
PRT199 |
Partial Duplication of the Long Arm of Chromosome 13 |
8 |
| 1945 |
|
ERL042 |
Early-Onset Partial Cataract |
8 |
| 1946 |
|
OTM002 |
Otomandibular Dysplasia |
8 |
| 1947 |
c
|
ANG053 |
Angelman Syndrome Due to Maternal 15q11q13 Deletion |
8 |
| 1948 |
|
PRT171 |
Partial Deletion of the Short Arm of Chromosome 18 |
8 |
| 1949 |
|
SPN341 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
8 |
| 1950 |
c
|
PTR019 |
Paternal Uniparental Disomy of Chromosome 5 |
8 |
| 1951 |
|
ISL028 |
Isolated Cerebellar Vermis Hypoplasia |
8 |
| 1952 |
|
PRT152 |
Partial Deletion of Chromosome 10 |
8 |
| 1953 |
|
PRT207 |
Partial Duplication of the Short Arm of Chromosome 7 |
8 |
| 1954 |
|
ISL108 |
Isolated Splenogonadal Fusion |
8 |
| 1955 |
|
SYN127 |
Syndromic Ectopia Lentis |
8 |
| 1956 |
|
RRC028 |
Rare Congenital Non-Syndromic Heart Malformation |
8 |
| 1957 |
|
DST087 |
Distal Trisomy 7p |
8 |
| 1958 |
|
PRT159 |
Partial Deletion of the Short Arm of Chromosome 1 |
8 |
| 1959 |
|
CRN208 |
Coronary Sinus Atresia |
8 |
| 1960 |
|
PRT234 |
Partial Duplication of Chromosome 7 |
8 |
| 1961 |
c
|
SLV015 |
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 |
8 |
| 1962 |
|
PRT138 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
8 |
| 1963 |
|
INT355 |
Intercalary Limb Defects |
7 |
| 1964 |
|
3Q2004 |
3q26 Microduplication Syndrome |
7 |
| 1965 |
|
PLY086 |
Polyrrhinia |
7 |
| 1966 |
|
PRT151 |
Partial Deletion of Chromosome 16 |
7 |
| 1967 |
|
PRT222 |
Partial Duplication of Chromosome 8 |
7 |
| 1968 |
|
SYN147 |
Syndromic Ankyloblepharon Filiforme Adnatum |
7 |
| 1969 |
|
PRT181 |
Partial Deletion of the Long Arm of Chromosome 8 |
7 |
| 1970 |
c
|
CRB078 |
Cerebrocostomandibular-Like Syndrome |
7 |
| 1971 |
c
|
PRT190 |
Partial Trisomy of the Long Arm of Chromosome 18 |
7 |
| 1972 |
c
|
ISC013 |
Isochromosomy Yq |
7 |
| 1973 |
P
|
RRC010 |
Rare Capillary Malformation |
7 |
| 1974 |
P
|
PRT170 |
Partial Monosomy of the Short Arm of Chromosome 17 |
7 |
| 1975 |
|
PRT177 |
Partial Deletion of the Long Arm of Chromosome 4 |
7 |
| 1976 |
c
|
PRT173 |
Partial Monosomy of the Short Arm of Chromosome 20 |
7 |
| 1977 |
|
RNN007 |
Reunion Island Larsen-Like Syndrome |
7 |
| 1978 |
|
PHK009 |
Phakomatosis Cesiomarmorata |
7 |
| 1979 |
c
|
MTR079 |
Maternal Uniparental Disomy of Chromosome 13 |
7 |
| 1980 |
|
PRN015 |
Perinatal Intestinal Perforation |
7 |
| 1981 |
|
PRT193 |
Partial Duplication of the Long Arm of Chromosome 11 |
7 |
| 1982 |
c
|
CHR162 |
Chiari Malformation Type 4 |
6 |
| 1983 |
|
CMM016 |
Commissural Lip Fistula |
6 |
| 1984 |
|
PRT242 |
Partial Deletion of the Long Arm of Chromosome 21 |
6 |
| 1985 |
|
DST058 |
Distal Monosomy 12p |
6 |
| 1986 |
|
DST074 |
Distal Trisomy 20q |
6 |
| 1987 |
|
DST075 |
Distal Trisomy 16q |
6 |
| 1988 |
c
|
RNL090 |
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion |
6 |
| 1989 |
|
CLS025 |
Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
6 |
| 1990 |
|
CLS027 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Simple Virilizing Form |
6 |
| 1991 |
|
CLS028 |
Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, Salt Wasting Form |
6 |
| 1992 |
|
XLN221 |
X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-to-Disc Ratio Syndrome |
6 |
| 1993 |
|
NNS047 |
Non-Syndromic Cerebral Malformation Due to Abnormal Neuronal Migration |
6 |
| 1994 |
|
7Q3001 |
7q31 Microdeletion Syndrome |
6 |
| 1995 |
|
PRT148 |
Partial Deletion of Chromosome 6 |
6 |
| 1996 |
|
DST054 |
Distal 17p13.3 Microdeletion Syndrome |
6 |
| 1997 |
|
ATY043 |
Atypical Norrie Disease Due to Xp11.3 Microdeletion |
6 |
| 1998 |
c
|
KLN007 |
Koolen-De Vries Syndrome Due to a Point Mutation |
6 |
| 1999 |
|
IDP088 |
Idiopathic Isolated Micropenis |
6 |
| 2000 |
|
TBL020 |
Tubular Duplication of the Esophagus |
6 |
| 2001 |
|
NSN002 |
Nose and Cavum Anomaly |
6 |
| 2002 |
c
|
ANG058 |
Angelman Syndrome Due to a Point Mutation |
6 |
| 2003 |
c
|
RRD061 |
Rare Disorder with Ptosis |
6 |
| 2004 |
|
PRT147 |
Partial Deletion of Chromosome 9 |
6 |
| 2005 |
|
PRT211 |
Partial Duplication of the Short Arm of Chromosome 11 |
6 |
| 2006 |
|
12Q001 |
12q15q21.1 Microdeletion Syndrome |
6 |
| 2007 |
|
EXT047 |
Extralobar Congenital Pulmonary Sequestration |
6 |
| 2008 |
|
PRT098 |
Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia with Posterior Fossa Cysts Syndrome |
6 |
| 2009 |
|
GST110 |
Gastroduodenal Malformation |
6 |
| 2010 |
|
TRC084 |
Tricuspid Valve Agenesis |
6 |
| 2011 |
|
DST066 |
Distal Monosomy 20q |
6 |
| 2012 |
|
DST073 |
Distal Monosomy 7p |
6 |
| 2013 |
|
DST083 |
Distal Trisomy 9q |
6 |
| 2014 |
|
LNS008 |
Lens Position Anomaly |
6 |
| 2015 |
|
SYN155 |
Syndromic Anorectal Malformation |
6 |
| 2016 |
c
|
YCH004 |
Y Chromosomal Anomaly |
5 |
| 2017 |
|
MDN007 |
Median Cleft Lip/mandibule |
5 |
| 2018 |
|
PRT155 |
Partial Deletion of Chromosome 17 |
5 |
| 2019 |
|
PRM320 |
Primary Bone Dysplasia with Micromelia |
5 |
| 2020 |
|
FBL015 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
5 |
| 2021 |
|
MTP038 |
Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome |
5 |
| 2022 |
|
LSS032 |
Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome |
5 |
| 2023 |
|
DRG019 |
Drug-Related Renal Tubular Dysgenesis |
5 |
| 2024 |
|
PRM332 |
Primary Bone Dysplasia with Defective Bone Mineralization |
5 |
| 2025 |
|
PRM333 |
Primary Bone Dysplasia with Decreased Bone Density |
5 |
| 2026 |
|
NNT057 |
Neonatal Osteosclerotic Dysplasia |
5 |
| 2027 |
|
PRM335 |
Primary Bone Dysplasia with Multiple Joint Dislocations |
5 |
| 2028 |
|
PRM336 |
Primary Bone Dysplasia with Disorganized Development of Skeletal Components |
5 |
| 2029 |
|
SLN010 |
Slender Bone Dysplasia |
5 |
| 2030 |
|
CNG601 |
Congenital Tricuspid Malformation |
5 |
| 2031 |
|
BCR005 |
Bicervical Bicornuate Uterus and Blind Hemivagina |
5 |
| 2032 |
|
PRT191 |
Partial Duplication of the Long Arm of Chromosome 17 |
5 |
| 2033 |
c
|
PRT194 |
Partial Trisomy of the Long Arm of Chromosome 9 |
5 |
| 2034 |
|
PRT198 |
Partial Duplication of the Long Arm of Chromosome 14 |
5 |
| 2035 |
|
PRT227 |
Partial Deletion of the Long Arm of Chromosome 22 |
5 |
| 2036 |
|
PRT240 |
Partial Deletion of the Long Arm of Chromosome 19 |
5 |
| 2037 |
|
SPN269 |
Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type |
5 |
| 2038 |
|
CNG571 |
Congenital Disorder of Glycosylation-Related Bone Disorder |
5 |
| 2039 |
|
ISL117 |
Isolated Congenital Radial Head Dislocation |
5 |
| 2040 |
|
CNG583 |
Congenital Urachal Anomaly |
5 |
| 2041 |
|
STR107 |
Sterol Biosynthesis Disorder |
5 |
| 2042 |
|
DST070 |
Distal Monosomy 4q |
5 |
| 2043 |
|
UNV004 |
Univentricular Heart with Single Atrio-Ventricular Valve |
5 |
| 2044 |
|
CNG353 |
Congenital Partial Agenesis of Pericardium |
5 |
| 2045 |
|
CNG354 |
Congenital Complete Agenesis of Pericardium |
5 |
| 2046 |
|
SYN144 |
Syndromic Outer Canthal Malposition |
5 |
| 2047 |
|
SYN145 |
Syndromic Epicanthus |
5 |
| 2048 |
|
CRN313 |
Corneodysgenesis |
5 |
| 2049 |
|
SYN097 |
Syndromic Urogenital Tract Malformation |
5 |
| 2050 |
|
NNC007 |
Non-Classic Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency |
5 |
| 2051 |
c
|
LSS022 |
Lissencephaly with Cerebellar Hypoplasia Type D |
5 |
| 2052 |
c
|
LSS023 |
Lissencephaly with Cerebellar Hypoplasia Type C |
5 |
| 2053 |
|
ISL106 |
Isolated Congenital Microcephaly |
5 |
| 2054 |
|
PRP094 |
Propylthiouracil Embryofetopathy |
5 |
| 2055 |
|
SYN160 |
Syndromic Intestinal Malformation |
5 |
| 2056 |
c
|
ATS022 |
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract |
4 |
| 2057 |
|
LWS004 |
Low Isolated Anorectal Malformation |
4 |
| 2058 |
c
|
TSS003 |
Tessier Number 6 Facial Cleft |
4 |
| 2059 |
|
PRT201 |
Partial Duplication of the Long Arm of Chromosome 3 |
4 |
| 2060 |
|
MXD034 |
Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations |
4 |
| 2061 |
|
2P1003 |
2p13.2 Microdeletion Syndrome |
4 |
| 2062 |
|
CNG577 |
Congenital Deformities of Limbs |
4 |
| 2063 |
|
PRT245 |
Partial Deletion of Chromosome 12 |
4 |
| 2064 |
|
CNT081 |
Contractures-Webbed Neck-Micrognathia-Hypoplastic Nipples Syndrome |
4 |
| 2065 |
|
MCR188 |
Macrodactyly of Fingers, Unilateral |
4 |
| 2066 |
|
MCR190 |
Macrodactyly of Toes, Unilateral |
4 |
| 2067 |
|
CDL007 |
Caudal Regression-Sirenomelia Spectrum |
4 |
| 2068 |
|
ARX004 |
Arx-Related Encephalopathy-Brain Malformation Spectrum |
4 |
| 2069 |
|
4Q2002 |
4q25 Proximal Deletion Syndrome |
4 |
| 2070 |
|
LRP007 |
Lrp5-Related Primary Osteoporosis |
4 |
| 2071 |
|
RRC020 |
Rare Congenital Anomaly of Ventricular Septum |
4 |
| 2072 |
|
RSP024 |
Respiratory or Mediastinal Malformation |
4 |
| 2073 |
|
SYN141 |
Syndromic Renal or Urinary Tract Malformation |
4 |
| 2074 |
|
RRP026 |
Rare Palpebral Disorder |
4 |
| 2075 |
|
RRT022 |
Rare Atrial Defect and Interatrial Communication |
4 |
| 2076 |
|
MLT174 |
Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome |
4 |
| 2077 |
|
MLT175 |
Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability |
4 |
| 2078 |
c
|
TTL014 |
Total Autosomal Monosomy |
4 |
| 2079 |
c
|
RRD045 |
Rare Disorder with Ectropion |
4 |
| 2080 |
c
|
BLT012 |
Bilateral Renal Agenesis Dominant Type |
4 |
| 2081 |
|
PRR038 |
Pierre Robin Syndrome Associated with Bone Disease |
4 |
| 2082 |
|
PNN004 |
Pinnae Fistula or Cyst |
4 |
| 2083 |
|
CNG391 |
Congenital Pseudoarthrosis of the Limbs |
4 |
| 2084 |
|
PRT210 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 18 |
4 |
| 2085 |
|
PRT224 |
Partial Trisomy/tetrasomy of the Short Arm of Chromosome 12 |
4 |
| 2086 |
|
MRF016 |
Marfanoid Habitus-Inguinal Hernia-Advanced Bone Age Syndrome |
4 |
| 2087 |
|
PRT247 |
Partial Duplication of the Short Arm of Chromosome 19 |
4 |
| 2088 |
c
|
RRD027 |
Rare Disease with Malignant Hyperthermia |
4 |
| 2089 |
|
ISL130 |
Isolated Congenital Entropion |
4 |
| 2090 |
|
STR109 |
Structural Developmental Eye Defect |
4 |
| 2091 |
|
XLN155 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
4 |
| 2092 |
|
LNS009 |
Lens Size Anomaly |
4 |
| 2093 |
|
CNG598 |
Congenital Malformation of the Eye with Glaucoma As a Major Feature |
4 |
| 2094 |
c
|
XND001 |
X and Y Chromosomal Anomaly |
4 |
| 2095 |
c
|
RRD046 |
Rare Disorder with Entropion |
4 |
| 2096 |
|
HYP506 |
Hypoplasia of the Mitral Valve Annulus |
4 |
| 2097 |
|
HGH040 |
High Isolated Anorectal Malformation |
4 |
| 2098 |
|
ISL107 |
Isolated Congenital Syngnathia |
4 |
| 2099 |
c
|
XCH002 |
X Chromosome Number Anomaly |
4 |
| 2100 |
|
MLF006 |
Malformation of the Neurenteric Canal, Spinal Cord and Column |
4 |
| 2101 |
|
PRT243 |
Partial Duplication of the Short Arm of Chromosome 1 |
4 |
| 2102 |
|
CNG576 |
Congenital Deformities of Fingers |
4 |
| 2103 |
|
SPG003 |
Spigelian Hernia-Cryptorchidism Syndrome |
4 |
| 2104 |
|
CNG315 |
Congenital Vertical Talus, Unilateral |
4 |
| 2105 |
|
MCR187 |
Macrodactyly of Fingers, Bilateral |
4 |
| 2106 |
|
MCR189 |
Macrodactyly of Toes, Bilateral |
4 |
| 2107 |
|
LTH049 |
Lethal Multiple Congenital Anomalies/dysmorphic Syndrome |
4 |
| 2108 |
|
OVR126 |
Overgrowth or Tall Stature Syndrome with Skeletal Involvement |
4 |
| 2109 |
|
GNT161 |
Genetic Inflammatory or Rheumatoid-Like Osteoarthropathy |
4 |
| 2110 |
|
RNF001 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
4 |
| 2111 |
|
DPH030 |
Diaphragmatic or Abdominal Wall Malformation |
4 |
| 2112 |
|
NNS058 |
Non-Syndromic Renal or Urinary Tract Malformation |
4 |
| 2113 |
|
ENC035 |
Encircling Double Aortic Arch |
4 |
| 2114 |
|
SYN157 |
Syndromic Respiratory or Mediastinal Malformation |
4 |
| 2115 |
|
NNS064 |
Non-Syndromic Central Nervous System Malformation |
4 |
| 2116 |
c
|
SYN028 |
Syngnathia Multiple Anomalies |
3 |
| 2117 |
|
SYN102 |
Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature |
3 |
| 2118 |
|
MTR085 |
|
