# |
Family |
MCID |
Name |
MIFTS |
1 |
c
|
JBR027 |
Joubert Syndrome 16 |
39 |
2 |
|
HRD090 |
Harderoporphyria |
28 |
3 |
|
FRG013 |
Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) |
18 |
4 |
P
|
PRS040 |
Prostate Cancer |
97 |
5 |
c
|
ALZ065 |
Alzheimer Disease, Familial, 1 |
87 |
6 |
c
|
LKM061 |
Leukemia, Acute Myeloid |
82 |
7 |
c
|
MNN043 |
Meningioma, Familial |
81 |
8 |
c
|
DLT002 |
Dilated Cardiomyopathy |
79 |
9 |
|
OTT002 |
Otitis Media |
78 |
10 |
P
|
LYN001 |
Lynch Syndrome |
77 |
11 |
|
PHN003 |
Phenylketonuria |
76 |
12 |
P
|
ALG028 |
Alagille Syndrome 1 |
74 |
13 |
P
|
DMN001 |
Diamond-Blackfan Anemia |
74 |
14 |
P
|
ASP006 |
Aspergillosis |
73 |
15 |
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
16 |
P
|
TYS001 |
Tay-Sachs Disease |
71 |
17 |
|
MLT157 |
Multiple System Atrophy 1 |
71 |
18 |
|
MYL005 |
Myelofibrosis |
71 |
19 |
|
DWN001 |
Down Syndrome |
71 |
20 |
P
|
HML033 |
Hemolytic Uremic Syndrome, Atypical 1 |
70 |
21 |
|
CST001 |
Costello Syndrome |
70 |
22 |
P
|
KRB001 |
Krabbe Disease |
69 |
23 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
69 |
24 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
25 |
|
PLY001 |
Polycythemia Vera |
68 |
26 |
|
DMN031 |
Dementia, Lewy Body |
68 |
27 |
P
|
CWD010 |
Cowden Syndrome |
68 |
28 |
|
MLT163 |
Multiple Pterygium Syndrome, Escobar Variant |
68 |
29 |
|
MLD001 |
Melioidosis |
68 |
30 |
P
|
GCH001 |
Gaucher's Disease |
68 |
31 |
|
LYM007 |
Lymphangioleiomyomatosis |
68 |
32 |
P
|
OCL013 |
Oculodentodigital Dysplasia |
67 |
33 |
|
IMM106 |
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked |
67 |
34 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
67 |
35 |
P
|
ALP004 |
Alport Syndrome |
67 |
36 |
P
|
CLC063 |
Celiac Disease 1 |
67 |
37 |
P
|
MYP004 |
Myopathy |
67 |
38 |
|
CRB037 |
Cerebral Palsy |
66 |
39 |
P
|
CRB048 |
Cerebral Cavernous Malformations |
66 |
40 |
c
|
HRD002 |
Hereditary Angioedema |
66 |
41 |
P
|
GLC113 |
Galactosemia I |
66 |
42 |
|
ACH022 |
Achalasia-Addisonianism-Alacrima Syndrome |
66 |
43 |
P
|
DYS154 |
Dystonia |
66 |
44 |
|
CRN296 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
65 |
45 |
P
|
CRG003 |
Crigler-Najjar Syndrome, Type I |
65 |
46 |
c
|
DMN023 |
Diamond-Blackfan Anemia 1 |
64 |
47 |
|
BLS001 |
Blau Syndrome |
64 |
48 |
P
|
MTR014 |
Motor Neuron Disease |
64 |
49 |
P
|
EHL001 |
Ehlers-Danlos Syndrome |
64 |
50 |
|
MGL001 |
Megaloblastic Anemia |
64 |
51 |
|
MYL009 |
Myelodysplastic Syndrome |
64 |
52 |
|
LYM017 |
Lyme Disease |
64 |
53 |
|
BP1002 |
Bap1 Tumor Predisposition Syndrome |
63 |
54 |
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
63 |
55 |
|
BTN003 |
Biotinidase Deficiency |
63 |
56 |
|
INC021 |
Incontinentia Pigmenti |
63 |
57 |
P
|
OST001 |
Osteopetrosis |
63 |
58 |
P
|
ACR001 |
Aicardi-Goutieres Syndrome |
63 |
59 |
P
|
PRX003 |
Paroxysmal Nocturnal Hemoglobinuria |
63 |
60 |
|
CRN239 |
Carnitine Deficiency, Systemic Primary |
63 |
61 |
P
|
HYP069 |
Hyperparathyroidism |
63 |
62 |
|
CHG001 |
Chagas Disease |
63 |
63 |
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
64 |
|
AND019 |
Andersen Cardiodysrhythmic Periodic Paralysis |
62 |
65 |
P
|
TRC072 |
Treacher Collins Syndrome 1 |
62 |
66 |
|
PLG002 |
Plague |
62 |
67 |
c
|
PSR021 |
Psoriasis 14, Pustular |
62 |
68 |
|
LCR014 |
Lacrimoauriculodentodigital Syndrome |
61 |
69 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
61 |
70 |
P
|
TMR018 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
61 |
71 |
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
61 |
72 |
P
|
NTR004 |
Neutropenia |
61 |
73 |
|
DRR014 |
Darier-White Disease |
61 |
74 |
|
KLP010 |
Klippel-Trenaunay-Weber Syndrome |
61 |
75 |
c
|
LYN005 |
Lynch Syndrome 1 |
61 |
76 |
P
|
CRN052 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
61 |
77 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
61 |
78 |
|
MWT001 |
Mowat-Wilson Syndrome |
61 |
79 |
P
|
PRD008 |
Periodontitis |
61 |
80 |
|
HNC001 |
Henoch-Schoenlein Purpura |
61 |
81 |
P
|
DRM010 |
Dermatomyositis |
61 |
82 |
|
DNH001 |
Donohue Syndrome |
61 |
83 |
|
ADN001 |
Adenosine Deaminase Deficiency |
61 |
84 |
P
|
LPS004 |
Lupus Erythematosus |
61 |
85 |
P
|
THR005 |
Thrombotic Thrombocytopenic Purpura |
60 |
86 |
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
60 |
87 |
|
DPM001 |
Dopamine Beta-Hydroxylase Deficiency |
60 |
88 |
|
LCT022 |
Lecithin:cholesterol Acyltransferase Deficiency |
60 |
89 |
P
|
CTR002 |
Cataract |
60 |
90 |
|
LND001 |
Landau-Kleffner Syndrome |
60 |
91 |
P
|
HMN010 |
Hemangioma |
60 |
92 |
|
CYC010 |
Cyclic Neutropenia |
60 |
93 |
P
|
CHL002 |
Childhood Absence Epilepsy |
60 |
94 |
P
|
SYP003 |
Syphilis |
60 |
95 |
P
|
EPS003 |
Episodic Ataxia |
60 |
96 |
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
97 |
|
CHL067 |
Cholecystitis |
60 |
98 |
|
ESP020 |
Esophageal Atresia |
59 |
99 |
|
STT001 |
Status Epilepticus |
59 |
100 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
101 |
|
DYS164 |
Dyskeratosis Congenita, X-Linked |
59 |
102 |
c
|
LSS005 |
Lissencephaly 1 |
59 |
103 |
P
|
LKD001 |
Leukodystrophy |
59 |
104 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
59 |
105 |
c
|
CRD184 |
Ceroid Lipofuscinosis, Neuronal, 5 |
59 |
106 |
|
AMY027 |
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 |
59 |
107 |
|
CHR072 |
Chordoma |
59 |
108 |
|
GLC012 |
Galactosialidosis |
59 |
109 |
c
|
ANG070 |
Angioedema, Hereditary, 1 |
59 |
110 |
P
|
MYR002 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
59 |
111 |
|
SDD001 |
Sudden Infant Death Syndrome |
59 |
112 |
c
|
EPS042 |
Episodic Ataxia, Type 1 |
58 |
113 |
|
DYS192 |
Dystonia, Dopa-Responsive |
58 |
114 |
P
|
STC001 |
Stickler Syndrome |
58 |
115 |
P
|
PLY041 |
Polymyositis |
58 |
116 |
|
SCH014 |
Schistosomiasis |
58 |
117 |
c
|
SVR003 |
Severe Congenital Neutropenia |
58 |
118 |
P
|
INT070 |
Intestinal Obstruction |
58 |
119 |
P
|
VNT002 |
Ventricular Septal Defect |
58 |
120 |
|
CCC001 |
Coccidioidomycosis |
58 |
121 |
c
|
GCH017 |
Gaucher Disease, Type Iii |
58 |
122 |
|
INS023 |
Insensitivity to Pain, Congenital, with Anhidrosis |
58 |
123 |
|
CHK001 |
Chikungunya |
58 |
124 |
c
|
STC015 |
Stickler Syndrome, Type I |
57 |
125 |
|
HYL004 |
Hyaline Fibromatosis Syndrome |
57 |
126 |
|
ALL001 |
Allan-Herndon-Dudley Syndrome |
57 |
127 |
P
|
BRT004 |
Bartter Disease |
57 |
128 |
|
ANT024 |
Anthrax Disease |
57 |
129 |
P
|
ALT001 |
Alternating Hemiplegia of Childhood |
57 |
130 |
|
CRB150 |
Cerebral Creatine Deficiency Syndrome 2 |
57 |
131 |
|
DHY002 |
Dihydropyrimidine Dehydrogenase Deficiency |
57 |
132 |
c
|
PRM012 |
Primary Polycythemia |
57 |
133 |
|
PRL032 |
Perlman Syndrome |
57 |
134 |
P
|
CRP023 |
Carpenter Syndrome 1 |
57 |
135 |
|
PRN038 |
Prune Belly Syndrome |
57 |
136 |
|
DNN002 |
Donnai-Barrow Syndrome |
57 |
137 |
P
|
ACT117 |
Acute Myelomonocytic Leukemia |
57 |
138 |
P
|
ATR001 |
Atrioventricular Septal Defect |
56 |
139 |
|
NRN004 |
Neuroendocrine Tumor |
56 |
140 |
P
|
SCL018 |
Scoliosis |
56 |
141 |
|
TXC002 |
Toxic Encephalopathy |
56 |
142 |
c
|
CRD183 |
Ceroid Lipofuscinosis, Neuronal, 2 |
56 |
143 |
P
|
TMT001 |
Timothy Syndrome |
56 |
144 |
c
|
HMC009 |
Hemochromatosis Type 2 |
56 |
145 |
|
HDN003 |
Head and Neck Cancer |
56 |
146 |
c
|
ALZ056 |
Alzheimer Disease 3 |
56 |
147 |
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
56 |
148 |
c
|
CHL119 |
Cholangitis, Primary Sclerosing |
56 |
149 |
c
|
INT072 |
Intestinal Pseudo-Obstruction |
56 |
150 |
c
|
OST163 |
Osteopetrosis, Autosomal Recessive 3 |
56 |
151 |
P
|
ALP008 |
Alopecia |
56 |
152 |
|
CHR105 |
Choreoacanthocytosis |
56 |
153 |
|
PNL019 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities |
56 |
154 |
|
TRC023 |
Trichinosis |
55 |
155 |
c
|
GLC111 |
Galactosemia Ii |
55 |
156 |
|
HDR002 |
Hidradenitis Suppurativa |
55 |
157 |
|
BLD129 |
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
55 |
158 |
P
|
FRN036 |
Frontonasal Dysplasia 1 |
55 |
159 |
P
|
ANG015 |
Angioedema |
55 |
160 |
|
MLL018 |
Miller-Dieker Lissencephaly Syndrome |
55 |
161 |
c
|
KLF004 |
Kleefstra Syndrome 1 |
54 |
162 |
|
ERD001 |
Erdheim-Chester Disease |
54 |
163 |
|
RSP023 |
Rasopathy |
54 |
164 |
|
OHD004 |
Ohdo Syndrome |
54 |
165 |
|
NCT003 |
N-Acetylglutamate Synthase Deficiency |
54 |
166 |
|
MGL038 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
54 |
167 |
|
OPT082 |
Opitz Gbbb Syndrome |
54 |
168 |
|
ENC055 |
Encephalopathy, Ethylmalonic |
54 |
169 |
|
GLL028 |
Gillespie Syndrome |
54 |
170 |
P
|
DDN001 |
Duodenal Ulcer |
54 |
171 |
P
|
ICH004 |
Ichthyosis |
54 |
172 |
|
OCL008 |
Oculopharyngeal Muscular Dystrophy |
54 |
173 |
|
SYN007 |
Synovitis |
54 |
174 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
175 |
|
MTC020 |
Mitochondrial Complex Ii Deficiency |
53 |
176 |
P
|
CRB154 |
Cerebrocostomandibular Syndrome |
53 |
177 |
|
PRS127 |
Pearson Marrow-Pancreas Syndrome |
53 |
178 |
P
|
PRR016 |
Pierre Robin Syndrome |
53 |
179 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
53 |
180 |
|
AGN003 |
Agenesis of the Corpus Callosum with Peripheral Neuropathy |
53 |
181 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
52 |
182 |
|
TCL025 |
T-Cell Immunodeficiency with Thymic Aplasia |
52 |
183 |
c
|
STN011 |
Sting-Associated Vasculopathy with Onset in Infancy |
52 |
184 |
|
ADL104 |
Adult T-Cell Leukemia/lymphoma |
52 |
185 |
P
|
ANN002 |
Anencephaly |
52 |
186 |
c
|
PRG011 |
Progressive Myoclonus Epilepsy |
52 |
187 |
P
|
HMP007 |
Hemophilia |
52 |
188 |
|
MYC087 |
Mycoplasma Pneumoniae Pneumonia |
52 |
189 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
52 |
190 |
|
CLF037 |
Cleft Lip/palate-Ectodermal Dysplasia Syndrome |
52 |
191 |
|
STS002 |
Situs Inversus |
52 |
192 |
c
|
MYL058 |
Myeloproliferative Syndrome, Transient |
51 |
193 |
P
|
LCT001 |
Lactic Acidosis |
51 |
194 |
|
TRP002 |
Tropical Spastic Paraparesis |
51 |
195 |
P
|
JVN008 |
Juvenile Glaucoma |
51 |
196 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
197 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
51 |
198 |
c
|
PRD040 |
Periodontitis, Chronic |
51 |
199 |
|
HYP789 |
Hypophosphatemic Rickets with Hypercalciuria, Hereditary |
51 |
200 |
P
|
ALP061 |
Alopecia, Androgenetic, 1 |
51 |
201 |
|
MLT134 |
Multiple Pterygium Syndrome, Lethal Type |
51 |
202 |
P
|
MTC235 |
Mitochondrial Disease |
51 |
203 |
c
|
CWD008 |
Cowden Syndrome 6 |
50 |
204 |
|
MTH077 |
Methylmalonic Aciduria, Cbla Type |
50 |
205 |
|
BNB002 |
Bainbridge-Ropers Syndrome |
50 |
206 |
|
HMC040 |
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency |
50 |
207 |
P
|
JVN007 |
Juvenile Absence Epilepsy |
50 |
208 |
P
|
VSC065 |
Visceral Myopathy 1 |
50 |
209 |
c
|
PSD047 |
Pseudo-Turner Syndrome |
50 |
210 |
|
WDM004 |
Wiedemann-Steiner Syndrome |
50 |
211 |
P
|
ANX007 |
Anauxetic Dysplasia 1 |
50 |
212 |
|
PLY161 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
50 |
213 |
|
ENC010 |
Encephalocraniocutaneous Lipomatosis |
50 |
214 |
c
|
HYP513 |
Hypogonadotropic Hypogonadism 1 with or Without Anosmia |
50 |
215 |
|
SHR098 |
Short-Rib Thoracic Dysplasia 12 |
50 |
216 |
c
|
SCN007 |
Secondary Hyperparathyroidism |
50 |
217 |
c
|
INV001 |
Invasive Aspergillosis |
49 |
218 |
|
MHR001 |
Mohr-Tranebjaerg Syndrome |
49 |
219 |
P
|
KLF001 |
Kleefstra Syndrome |
49 |
220 |
c
|
46X049 |
46,xy Sex Reversal 2 |
49 |
221 |
|
ACR043 |
Acromicric Dysplasia |
49 |
222 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
49 |
223 |
c
|
LYN009 |
Lynch Syndrome 5 |
49 |
224 |
|
ALV007 |
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
49 |
225 |
c
|
EPS017 |
Episodic Ataxia, Type 6 |
49 |
226 |
|
MTH078 |
Methylmalonic Aciduria, Cblb Type |
49 |
227 |
|
MCR359 |
Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss |
49 |
228 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
49 |
229 |
c
|
HYP575 |
Hypotrichosis 7 |
49 |
230 |
|
PRC003 |
Proctitis |
49 |
231 |
P
|
PRR002 |
Pure Red-Cell Aplasia |
49 |
232 |
c
|
GNR039 |
Generalized Epilepsy with Febrile Seizures Plus, Type 2 |
49 |
233 |
|
EPD015 |
Epidemic Typhus |
49 |
234 |
P
|
ORF001 |
Orofaciodigital Syndrome |
49 |
235 |
|
SHP005 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
48 |
236 |
c
|
ALZ049 |
Alzheimer Disease 2 |
48 |
237 |
|
NCR004 |
Nocardiosis |
48 |
238 |
P
|
CNG003 |
Congenital Dyserythropoietic Anemia |
48 |
239 |
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
240 |
c
|
ALZ054 |
Alzheimer Disease 4 |
48 |
241 |
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
48 |
242 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
48 |
243 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
48 |
244 |
c
|
VNM003 |
Van Maldergem Syndrome 1 |
48 |
245 |
|
SPR010 |
Sporotrichosis |
48 |
246 |
|
IMM252 |
Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation |
48 |
247 |
c
|
ALZ045 |
Alzheimer Disease 9 |
48 |
248 |
|
PLM019 |
Pleomorphic Liposarcoma |
48 |
249 |
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
48 |
250 |
c
|
CRG004 |
Crigler-Najjar Syndrome, Type Ii |
48 |
251 |
|
SPN252 |
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy |
48 |
252 |
c
|
VNW008 |
Von Willebrand Disease, Type 3 |
47 |
253 |
P
|
KLP003 |
Klippel-Feil Syndrome |
47 |
254 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
47 |
255 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
47 |
256 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
257 |
c
|
EPS034 |
Episodic Ataxia, Type 5 |
47 |
258 |
c
|
DYS191 |
Dystonia 1, Torsion, Autosomal Dominant |
47 |
259 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
47 |
260 |
|
BRN062 |
Burn-Mckeown Syndrome |
47 |
261 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
47 |
262 |
c
|
GNR043 |
Generalized Epilepsy with Febrile Seizures Plus, Type 7 |
47 |
263 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
47 |
264 |
c
|
3MT015 |
3-Methylglutaconic Aciduria, Type I |
47 |
265 |
c
|
LNG050 |
Long Qt Syndrome 5 |
47 |
266 |
c
|
AMY069 |
Amyotrophic Lateral Sclerosis 21 |
47 |
267 |
|
ALB014 |
Alobar Holoprosencephaly |
47 |
268 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
47 |
269 |
c
|
CTR098 |
Cataract 1, Multiple Types |
47 |
270 |
c
|
ACR116 |
Aicardi-Goutieres Syndrome 1 |
47 |
271 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
47 |
272 |
|
LCK001 |
Locked-in Syndrome |
47 |
273 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
47 |
274 |
|
CHR543 |
Chromosome 2q37 Deletion Syndrome |
47 |
275 |
c
|
ANG071 |
Angioedema, Hereditary, 3 |
47 |
276 |
|
HST006 |
Histidinemia |
47 |
277 |
P
|
C3G002 |
C3 Glomerulopathy |
46 |
278 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
46 |
279 |
c
|
GCH013 |
Gaucher Disease, Type Iiic |
46 |
280 |
P
|
SCL009 |
Sclerosing Cholangitis |
46 |
281 |
P
|
PSD003 |
Pseudohypoaldosteronism |
46 |
282 |
|
SPN289 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
46 |
283 |
|
ACT113 |
Acute Myeloblastic Leukemia with Maturation |
46 |
284 |
P
|
GLP001 |
Geleophysic Dysplasia |
46 |
285 |
c
|
HYP243 |
Hyperparathyroidism 1 |
46 |
286 |
c
|
MYP081 |
Myopathy, Myofibrillar, 6 |
46 |
287 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
46 |
288 |
|
HMS001 |
Hemosiderosis |
46 |
289 |
c
|
BRW008 |
Brown-Vialetto-Van Laere Syndrome 2 |
46 |
290 |
c
|
XFP001 |
Xfe Progeroid Syndrome |
46 |
291 |
|
NLS001 |
Nelson Syndrome |
46 |
292 |
P
|
GLL032 |
Galloway-Mowat Syndrome |
46 |
293 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
46 |
294 |
|
MDL020 |
Midline Interhemispheric Variant of Holoprosencephaly |
46 |
295 |
c
|
ACT076 |
Acute Myocarditis |
46 |
296 |
P
|
PLL002 |
Pellagra |
46 |
297 |
P
|
SPN202 |
Spinocerebellar Ataxia, X-Linked 1 |
46 |
298 |
|
MLL002 |
Miller Fisher Syndrome |
45 |
299 |
c
|
LNG051 |
Long Qt Syndrome 6 |
45 |
300 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
45 |
301 |
|
GLS004 |
Glossopharyngeal Neuralgia |
45 |
302 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
45 |
303 |
|
WHP001 |
Whipple Disease |
45 |
304 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
45 |
305 |
P
|
MRC003 |
Mercury Poisoning |
45 |
306 |
c
|
DMN021 |
Diamond-Blackfan Anemia 6 |
45 |
307 |
|
DDF001 |
Dedifferentiated Liposarcoma |
45 |
308 |
|
GNT031 |
Genitopatellar Syndrome |
45 |
309 |
c
|
DMN029 |
Diamond-Blackfan Anemia 11 |
45 |
310 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
45 |
311 |
c
|
ALZ062 |
Alzheimer Disease 19 |
45 |
312 |
c
|
CRN240 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
45 |
313 |
|
PST027 |
Postencephalitic Parkinson Disease |
45 |
314 |
|
CHR583 |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
45 |
315 |
c
|
JVN003 |
Juvenile Xanthogranuloma |
45 |
316 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
45 |
317 |
|
WRN004 |
Wrinkly Skin Syndrome |
44 |
318 |
|
SPS004 |
Spastic Quadriplegia |
44 |
319 |
P
|
HRN001 |
Horner's Syndrome |
44 |
320 |
|
47X004 |
47 Xxx Syndrome |
44 |
321 |
c
|
CTR182 |
Cataract 23, Multiple Types |
44 |
322 |
P
|
HRT030 |
Hartsfield Syndrome |
44 |
323 |
|
WLL012 |
Williams-Beuren Region Duplication Syndrome |
44 |
324 |
c
|
SCK009 |
Seckel Syndrome 1 |
44 |
325 |
P
|
BLP003 |
Blepharospasm |
44 |
326 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
44 |
327 |
P
|
PST059 |
Pustular Psoriasis |
44 |
328 |
P
|
MYC026 |
Myoclonus Epilepsy |
44 |
329 |
c
|
CRB094 |
Cerebral Cavernous Malformations 3 |
44 |
330 |
|
VNC001 |
Von Economo's Disease |
44 |
331 |
c
|
SYS043 |
Systemic Lupus Erythematosus 1 |
44 |
332 |
|
WLD008 |
Wild-Type Amyloidosis |
43 |
333 |
P
|
CMM008 |
Communicating Hydrocephalus |
43 |
334 |
|
BTY001 |
Butyrylcholinesterase Deficiency |
43 |
335 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
43 |
336 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
43 |
337 |
c
|
GLP003 |
Geleophysic Dysplasia 1 |
43 |
338 |
|
PLM021 |
Pilomyxoid Astrocytoma |
43 |
339 |
|
DMN007 |
D-Minus Hemolytic Uremic Syndrome |
43 |
340 |
c
|
WRB004 |
Warburg Micro Syndrome 3 |
43 |
341 |
|
RTN072 |
Retinohepatoendocrinologic Syndrome |
43 |
342 |
c
|
LYN006 |
Lynch Syndrome 2 |
43 |
343 |
c
|
CTR130 |
Cataract 9, Multiple Types |
43 |
344 |
c
|
DYS119 |
Dystonia 9 |
43 |
345 |
|
CSL001 |
Causalgia |
43 |
346 |
|
ATR013 |
Atrichia with Papular Lesions |
43 |
347 |
c
|
ANM033 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
43 |
348 |
c
|
HYD019 |
Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius |
43 |
349 |
c
|
LYN008 |
Lynch Syndrome 4 |
43 |
350 |
c
|
CLR068 |
Ciliary Dyskinesia, Primary, 5 |
43 |
351 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
43 |
352 |
|
SPN119 |
Spondylarthropathy |
43 |
353 |
|
CHR211 |
Chromosome 18p Deletion Syndrome |
43 |
354 |
|
TRN021 |
Transaldolase Deficiency |
43 |
355 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
42 |
356 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
42 |
357 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
42 |
358 |
c
|
CRB191 |
Cerebral Cavernous Malformations 2 |
42 |
359 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
42 |
360 |
|
DBT022 |
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism |
42 |
361 |
|
CRB108 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
42 |
362 |
|
SPT005 |
Spotted Fever |
42 |
363 |
c
|
AML057 |
Amelogenesis Imperfecta, Type Iiia |
42 |
364 |
|
TRS002 |
Tarsal-Carpal Coalition Syndrome |
42 |
365 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
42 |
366 |
|
GRN017 |
Granulocytopenia |
42 |
367 |
c
|
ALP105 |
Alport Syndrome 2, Autosomal Recessive |
42 |
368 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
42 |
369 |
c
|
ALP104 |
Alport Syndrome 3, Autosomal Dominant |
42 |
370 |
c
|
DMN006 |
Diamond-Blackfan Anemia 3 |
42 |
371 |
|
MNG006 |
Monogenic Diabetes |
42 |
372 |
|
HMP009 |
Haemophilus Influenzae |
42 |
373 |
P
|
OVR082 |
Overgrowth Syndrome |
42 |
374 |
c
|
CNG033 |
Congenital Syphilis |
42 |
375 |
c
|
ATM022 |
Autoimmune Myocarditis |
42 |
376 |
|
PLG004 |
Plagiocephaly |
42 |
377 |
P
|
PRK105 |
Parkinsonism-Dystonia 1, Infantile-Onset |
42 |
378 |
|
PLY100 |
Polyploidy |
42 |
379 |
|
PTT037 |
Pituitary Tumors |
42 |
380 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
42 |
381 |
|
CMP035 |
Complete Atrioventricular Canal |
42 |
382 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
42 |
383 |
P
|
HRD018 |
Hair Disease |
42 |
384 |
|
CHR502 |
Chromosome 17q12 Duplication Syndrome |
41 |
385 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
41 |
386 |
|
HMC030 |
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
41 |
387 |
|
GNR035 |
Generalized Juvenile Polyposis/juvenile Polyposis Coli |
41 |
388 |
c
|
ANM048 |
Anemia, Congenital Dyserythropoietic, Type Iv |
41 |
389 |
c
|
NRC010 |
Narcolepsy 2 |
41 |
390 |
|
OCL015 |
Oculomotor Apraxia |
41 |
391 |
c
|
SCK010 |
Seckel Syndrome 4 |
41 |
392 |
P
|
LMB024 |
Limbic Encephalitis |
41 |
393 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
41 |
394 |
c
|
GLP004 |
Geleophysic Dysplasia 2 |
41 |
395 |
P
|
RDL002 |
Radioulnar Synostosis |
41 |
396 |
|
BBN001 |
Bubonic Plague |
41 |
397 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
41 |
398 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
41 |
399 |
|
MLY010 |
Molybdenum Cofactor Deficiency, Complementation Group C |
41 |
400 |
c
|
GNR038 |
Generalized Epilepsy with Febrile Seizures Plus, Type 1 |
41 |
401 |
c
|
PRS136 |
Prostate Cancer, Hereditary, 6 |
41 |
402 |
|
INT450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
41 |
403 |
c
|
CLR094 |
Ciliary Dyskinesia, Primary, 28 |
41 |
404 |
|
VND005 |
Van Den Ende-Gupta Syndrome |
41 |
405 |
|
ARG001 |
Argentine Hemorrhagic Fever |
41 |
406 |
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
407 |
|
STR007 |
Stress Polycythemia |
41 |
408 |
|
KDN007 |
Kidney Clear Cell Sarcoma |
41 |
409 |
c
|
PRS130 |
Prostate Cancer, Hereditary, 8 |
41 |
410 |
|
ACR122 |
Aica-Ribosuria Due to Atic Deficiency |
41 |
411 |
c
|
OST137 |
Osteopetrosis, Autosomal Recessive 4 |
41 |
412 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
40 |
413 |
P
|
HYP087 |
Hypotrichosis |
40 |
414 |
c
|
ANM049 |
Anemia, Congenital Dyserythropoietic, Type Ib |
40 |
415 |
c
|
SCK015 |
Seckel Syndrome 2 |
40 |
416 |
c
|
CLR135 |
Ciliary Dyskinesia, Primary, 7 |
40 |
417 |
c
|
CLR114 |
Ciliary Dyskinesia, Primary, 30 |
40 |
418 |
|
LTH002 |
Lathosterolosis |
40 |
419 |
|
LKN008 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
40 |
420 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
40 |
421 |
|
PHH001 |
Phaeohyphomycosis |
40 |
422 |
c
|
CTR118 |
Cataract 14, Multiple Types |
40 |
423 |
|
CHR286 |
Chronic Neutrophilic Leukemia |
40 |
424 |
c
|
HYP525 |
Hypotrichosis 2 |
40 |
425 |
P
|
OGC005 |
Oguchi Disease |
40 |
426 |
|
CHR590 |
Chromosome 15q11-Q13 Duplication Syndrome |
40 |
427 |
c
|
ACQ012 |
Acquired Angioedema |
40 |
428 |
|
NNS097 |
Non-Specific Early-Onset Epileptic Encephalopathy |
40 |
429 |
P
|
CRB045 |
Cerebellar Hypoplasia |
40 |
430 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
40 |
431 |
|
HYP737 |
Hyperhidrosis, Gustatory |
40 |
432 |
|
TLP001 |
Talipes Equinovarus |
40 |
433 |
P
|
MYG005 |
Myoglobinuria |
40 |
434 |
c
|
DMN017 |
Diamond-Blackfan Anemia 10 |
40 |
435 |
|
CHR396 |
Chromosome 2p16.1-P15 Deletion Syndrome |
40 |
436 |
|
HYP267 |
Hyperchlorhidrosis, Isolated |
40 |
437 |
P
|
CNG024 |
Congenital Nystagmus |
40 |
438 |
c
|
BLP048 |
Blepharospasm, Benign Essential |
40 |
439 |
c
|
HYP581 |
Hypotrichosis 6 |
40 |
440 |
c
|
LYN007 |
Lynch Syndrome 8 |
40 |
441 |
P
|
CLS010 |
Cluster Headache |
39 |
442 |
c
|
KLF005 |
Kleefstra Syndrome 2 |
39 |
443 |
|
EPD117 |
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous |
39 |
444 |
|
NRM018 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
39 |
445 |
|
PRG080 |
Progressive Non-Infectious Anterior Vertebral Fusion |
39 |
446 |
c
|
WRB005 |
Warburg Micro Syndrome 4 |
39 |
447 |
c
|
EHL084 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
39 |
448 |
c
|
CTR132 |
Cataract 3, Multiple Types |
39 |
449 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
39 |
450 |
|
SPS019 |
Spastic Paraparesis |
39 |
451 |
c
|
CTR115 |
Cataract 16, Multiple Types |
39 |
452 |
|
RJS001 |
Ruijs-Aalfs Syndrome |
39 |
453 |
|
SYN086 |
Synostoses, Tarsal, Carpal, and Digital |
39 |
454 |
c
|
SYS061 |
Systemic Lupus Erythematosus 16 |
39 |
455 |
P
|
STN012 |
Sting-Associated Vasculopathy, Infantile-Onset |
39 |
456 |
|
ATY022 |
Atypical Coarctation of Aorta |
39 |
457 |
|
THR017 |
Thoracoabdominal Syndrome |
39 |
458 |
c
|
SVR110 |
Severe Congenital Neutropenia 4 |
39 |
459 |
c
|
HYP559 |
Hypotrichosis 8 |
39 |
460 |
|
MTC141 |
Mitochondrial Complex V Deficiency, Nuclear Type 5 |
39 |
461 |
P
|
SPL061 |
Split Hand-Foot Malformation |
39 |
462 |
|
GLC024 |
Glucose Transporter Type 1 Deficiency Syndrome |
39 |
463 |
c
|
CTR170 |
Cataract 30, Multiple Types |
39 |
464 |
|
OTF004 |
Otofaciocervical Syndrome 1 |
39 |
465 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
39 |
466 |
c
|
CLR066 |
Ciliary Dyskinesia, Primary, 2 |
38 |
467 |
|
OCH001 |
Ochronosis |
38 |
468 |
|
LPD026 |
Lipedema |
38 |
469 |
|
ESN015 |
Eosinophilic Fasciitis |
38 |
470 |
|
SFT003 |
Soft Tissue Sarcoma |
38 |
471 |
|
ANG060 |
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps |
38 |
472 |
|
PRK066 |
Parkinsonism with Spasticity, X-Linked |
38 |
473 |
c
|
CLR140 |
Ciliary Dyskinesia, Primary, 40 |
38 |
474 |
P
|
OMD003 |
Omodysplasia |
38 |
475 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
38 |
476 |
|
ORN001 |
Ornithosis |
38 |
477 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
478 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
38 |
479 |
|
HMC014 |
Homocysteinemia |
38 |
480 |
|
WBR001 |
Weber Syndrome |
38 |
481 |
c
|
GLC083 |
Glaucoma 3, Primary Infantile, B |
38 |
482 |
c
|
BRT038 |
Baraitser-Winter Syndrome 1 |
38 |
483 |
c
|
DMN020 |
Diamond-Blackfan Anemia 8 |
38 |
484 |
c
|
ACR091 |
Aicardi-Goutieres Syndrome 4 |
38 |
485 |
c
|
STC013 |
Stickler Syndrome, Type Ii |
38 |
486 |
|
ZTT001 |
Zttk Syndrome |
38 |
487 |
|
INT448 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
38 |
488 |
c
|
CLR091 |
Ciliary Dyskinesia, Primary, 14 |
38 |
489 |
|
CHL109 |
Childhood Apraxia of Speech |
38 |
490 |
c
|
PRS097 |
Prostate Cancer, Hereditary, 1 |
38 |
491 |
c
|
DYS172 |
Dystonia 27 |
38 |
492 |
|
SPN446 |
Spondylometaphyseal Dysplasia with Corneal Dystrophy |
38 |
493 |
P
|
NNP021 |
Nanophthalmos |
38 |
494 |
P
|
BRT040 |
Baraitser-Winter Syndrome |
38 |
495 |
|
MDM001 |
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency |
38 |
496 |
c
|
ATS282 |
Autosomal Recessive Malignant Osteopetrosis |
38 |
497 |
c
|
CWD004 |
Cowden Syndrome 5 |
38 |
498 |
c
|
ACR088 |
Aicardi-Goutieres Syndrome 3 |
38 |
499 |
c
|
DMN024 |
Diamond-Blackfan Anemia 7 |
38 |
500 |
c
|
CWD005 |
Cowden Syndrome 4 |
37 |
501 |
c
|
CTR145 |
Cataract 44 |
37 |
502 |
c
|
RNL092 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
37 |
503 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
37 |
504 |
c
|
DYS151 |
Dystonia 25 |
37 |
505 |
P
|
RNL059 |
Renal-Hepatic-Pancreatic Dysplasia |
37 |
506 |
c
|
VNM002 |
Van Maldergem Syndrome 2 |
37 |
507 |
P
|
YWS001 |
Yaws |
37 |
508 |
|
PLY138 |
Polymerase Proofreading-Related Adenomatous Polyposis |
37 |
509 |
c
|
ALZ058 |
Alzheimer Disease 11 |
37 |
510 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
37 |
511 |
P
|
ATS366 |
Autism X-Linked 2 |
37 |
512 |
|
SPN221 |
Spina Bifida Occulta |
37 |
513 |
|
RTC012 |
Reticuloendotheliosis, X-Linked |
37 |
514 |
|
NCR001 |
Necrotizing Ulcerative Gingivitis |
37 |
515 |
P
|
AVS003 |
Avascular Necrosis |
37 |
516 |
|
SPN415 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
37 |
517 |
c
|
GLP007 |
Geleophysic Dysplasia 3 |
37 |
518 |
|
GLL048 |
Glial Tumor |
37 |
519 |
c
|
SVR106 |
Severe Congenital Neutropenia 5 |
37 |
520 |
c
|
ACR092 |
Aicardi-Goutieres Syndrome 5 |
37 |
521 |
P
|
HMN032 |
Human Herpesvirus 8 |
37 |
522 |
c
|
KLP007 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
37 |
523 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
37 |
524 |
P
|
OSS001 |
Ossifying Fibroma |
37 |
525 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
37 |
526 |
c
|
SCN006 |
Secondary Syphilis |
37 |
527 |
c
|
EPS033 |
Episodic Ataxia, Type 8 |
37 |
528 |
c
|
SCK011 |
Seckel Syndrome 5 |
37 |
529 |
|
CRY019 |
Cryohydrocytosis |
37 |
530 |
|
MRF021 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
37 |
531 |
c
|
CLR105 |
Ciliary Dyskinesia, Primary, 20 |
37 |
532 |
|
SPC031 |
Specific Learning Disability |
37 |
533 |
|
SPT016 |
Septopreoptic Holoprosencephaly |
37 |
534 |
c
|
FRN033 |
Frontonasal Dysplasia 2 |
37 |
535 |
c
|
ACR081 |
Aicardi-Goutieres Syndrome 6 |
36 |
536 |
c
|
TRC071 |
Treacher Collins Syndrome 3 |
36 |
537 |
|
SPN438 |
Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy |
36 |
538 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
36 |
539 |
|
PRX090 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy |
36 |
540 |
|
BRC004 |
Brachydactyly-Syndactyly Syndrome |
36 |
541 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
36 |
542 |
P
|
NRL038 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 1 |
36 |
543 |
P
|
LSS030 |
Lissencephaly 7 with Cerebellar Hypoplasia |
36 |
544 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
36 |
545 |
c
|
DYS146 |
Dystonia 24 |
36 |
546 |
|
ATS391 |
Autosomal Recessive Cutis Laxa Type Ii Classic Type |
36 |
547 |
c
|
HYP507 |
Hypotrichosis 1 |
36 |
548 |
c
|
PRG141 |
Progressive Myoclonus Epilepsy 10 |
36 |
549 |
c
|
3MT007 |
3-Methylglutaconic Aciduria |
36 |
550 |
|
CLP005 |
Ciliopathy |
36 |
551 |
c
|
DVL097 |
Developmental and Epileptic Encephalopathy 73 |
36 |
552 |
c
|
ACR090 |
Aicardi-Goutieres Syndrome 2 |
36 |
553 |
|
CHR387 |
Chromosome Xp21 Deletion Syndrome |
36 |
554 |
P
|
DYS021 |
Dysautonomia |
36 |
555 |
c
|
ALG016 |
Alagille Syndrome 2 |
36 |
556 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
36 |
557 |
P
|
CNG048 |
Congenital Hepatic Fibrosis |
36 |
558 |
P
|
CXV002 |
Coxa Vara |
36 |
559 |
|
OTP003 |
Oto-Palatal-Digital Syndrome |
36 |
560 |
|
PRM206 |
Premature Aging Syndrome, Penttinen Type |
36 |
561 |
c
|
CTR129 |
Cataract 31, Multiple Types |
36 |
562 |
c
|
EPS037 |
Episodic Ataxia, Type 4 |
36 |
563 |
|
ISL109 |
Isolated Cleft Lip |
36 |
564 |
c
|
ATS025 |
Autosomal Dominant Progressive External Ophthalmoplegia |
36 |
565 |
|
INT020 |
Intravenous Leiomyomatosis |
35 |
566 |
c
|
CTR181 |
Cataract 18 |
35 |
567 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
35 |
568 |
c
|
3MT025 |
3-Methylglutaconic Aciduria, Type Viib |
35 |
569 |
|
CMB016 |
Combined Oxidative Phosphorylation Deficiency 5 |
35 |
570 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
35 |
571 |
|
TNG012 |
Tango2-Related Metabolic Encephalopathy and Arrhythmias |
35 |
572 |
c
|
OGC002 |
Oguchi Disease 2 |
35 |
573 |
c
|
INT414 |
Intellectual Developmental Disorder, X-Linked 29 |
35 |
574 |
c
|
WLL040 |
Weill-Marchesani Syndrome 4 |
35 |
575 |
c
|
CLR042 |
Ciliary Dyskinesia, Primary, 6 |
35 |
576 |
c
|
ALZ057 |
Alzheimer Disease 10 |
35 |
577 |
|
48X002 |
48,xxxy Syndrome |
35 |
578 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
579 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
35 |
580 |
|
MLT073 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
35 |
581 |
|
MYP035 |
Myopathy, Distal, with Anterior Tibial Onset |
35 |
582 |
c
|
HRD229 |
Hereditary Spastic Paraplegia 56 |
35 |
583 |
c
|
ART168 |
Arthrogryposis, Distal, Type 1c |
35 |
584 |
c
|
SPS092 |
Spastic Paraplegia 11 |
35 |
585 |
c
|
SBC035 |
Subacute Cutaneous Lupus Erythematosus |
35 |
586 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
35 |
587 |
c
|
OGC001 |
Oguchi Disease 1 |
35 |
588 |
P
|
BNG002 |
Benign Meningioma |
35 |
589 |
|
ASC009 |
Ascites, Chylous |
35 |
590 |
c
|
ALZ063 |
Alzheimer's Disease 1 |
35 |
591 |
|
CRT091 |
Creatine Deficiency Disorders |
35 |
592 |
c
|
EPL133 |
Epilepsy, Juvenile Absence 1 |
35 |
593 |
c
|
INT446 |
Intellectual Developmental Disorder, X-Linked 1 |
35 |
594 |
|
SBP004 |
Subependymoma |
35 |
595 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
34 |
596 |
|
DLT018 |
Dilution, Pigmentary |
34 |
597 |
c
|
OST106 |
Osteopetrosis, Autosomal Recessive 8 |
34 |
598 |
|
PDT025 |
Pediatric Multiple Sclerosis |
34 |
599 |
|
ODN025 |
Odontochondrodysplasia 1 |
34 |
600 |
c
|
CLR056 |
Ciliary Dyskinesia, Primary, 10 |
34 |
601 |
|
SDD002 |
Sudden Infant Death with Dysgenesis of the Testes Syndrome |
34 |
602 |
|
SZR028 |
Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome |
34 |
603 |
c
|
CTR122 |
Cataract 5, Multiple Types |
34 |
604 |
c
|
INT403 |
Intellectual Developmental Disorder, X-Linked 21 |
34 |
605 |
|
NRC005 |
Neuroacanthocytosis |
34 |
606 |
|
CTR014 |
Cataract Microcornea Syndrome |
34 |
607 |
c
|
CTR183 |
Cataract 38 |
34 |
608 |
|
CMP083 |
Complete Plasminogen Activator Inhibitor 1 Deficiency |
34 |
609 |
|
CHR178 |
Chromosomal Triplication |
34 |
610 |
c
|
CLR101 |
Ciliary Dyskinesia, Primary, 25 |
34 |
611 |
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
34 |
612 |
c
|
ATS076 |
Autosomal Recessive Stickler Syndrome |
34 |
613 |
c
|
CLR095 |
Ciliary Dyskinesia, Primary, 19 |
34 |
614 |
c
|
ADL027 |
Adult Dermatomyositis |
34 |
615 |
c
|
CLR098 |
Ciliary Dyskinesia, Primary, 27 |
34 |
616 |
|
ASB003 |
Asbestos Intoxication |
34 |
617 |
c
|
HYP577 |
Hypotrichosis 13 |
34 |
618 |
c
|
CRP022 |
Carpenter Syndrome 2 |
34 |
619 |
c
|
INF122 |
Infantile Krabbe Disease |
34 |
620 |
P
|
ACR072 |
Acrorenal Syndrome |
34 |
621 |
|
PRS120 |
Persistent Idiopathic Facial Pain |
34 |
622 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
34 |
623 |
|
GMS001 |
Gemistocytic Astrocytoma |
34 |
624 |
P
|
SPS012 |
Spastic Paraplegia 3a |
34 |
625 |
c
|
ANX008 |
Anauxetic Dysplasia 2 |
34 |
626 |
|
PSR016 |
Psoriatic Juvenile Idiopathic Arthritis |
34 |
627 |
|
CYT002 |
Cytokine Deficiency |
34 |
628 |
c
|
ACR084 |
Aicardi-Goutieres Syndrome 7 |
33 |
629 |
c
|
DYS145 |
Dystonia 23 |
33 |
630 |
|
LSC003 |
Luscan-Lumish Syndrome |
33 |
631 |
|
CNT057 |
Central Centrifugal Cicatricial Alopecia |
33 |
632 |
c
|
HRD226 |
Hereditary Spastic Paraplegia 49 |
33 |
633 |
|
BRN055 |
Bronchogenic Cyst |
33 |
634 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
33 |
635 |
c
|
DMN018 |
Diamond-Blackfan Anemia 5 |
33 |
636 |
|
PYR025 |
Pyruvate Dehydrogenase E2 Deficiency |
33 |
637 |
c
|
GNR034 |
Generalized Epilepsy with Febrile Seizures Plus, Type 9 |
33 |
638 |
c
|
PRS114 |
Prostate Cancer, Hereditary, 2 |
33 |
639 |
c
|
ACQ047 |
Acquired Methemoglobinemia |
33 |
640 |
|
NRD148 |
Neurodevelopmental Disorder with Epilepsy and Hemochromatosis |
33 |
641 |
c
|
VNT028 |
Ventricular Septal Defect 1 |
33 |
642 |
P
|
MCR364 |
Macrodactyly |
33 |
643 |
|
PRG023 |
Progeroid Short Stature with Pigmented Nevi |
33 |
644 |
|
PSD030 |
Pseudodiastrophic Dysplasia |
33 |
645 |
|
PLN005 |
Palindromic Rheumatism |
33 |
646 |
|
CHL078 |
Childhood-Onset Schizophrenia |
33 |
647 |
|
OXG001 |
Oxoglutarate Dehydrogenase Deficiency |
33 |
648 |
|
JVN033 |
Juvenile Nasopharyngeal Angiofibroma |
33 |
649 |
c
|
EPS015 |
Episodic Ataxia, Type 7 |
33 |
650 |
c
|
NTR054 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
33 |
651 |
|
CLS047 |
Classic Progressive Supranuclear Palsy Syndrome |
33 |
652 |
|
YHV001 |
You-Hoover-Fong Syndrome |
33 |
653 |
|
HGH041 |
High-Grade Astrocytoma |
33 |
654 |
|
FBR064 |
Febrile Infection-Related Epilepsy Syndrome |
33 |
655 |
c
|
HYP576 |
Hypotrichosis 4 |
33 |
656 |
c
|
CTR102 |
Cataract 2, Multiple Types |
33 |
657 |
|
CMB071 |
Combined Oxidative Phosphorylation Deficiency 27 |
33 |
658 |
c
|
MCR259 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 |
33 |
659 |
|
MCP039 |
Mucoepithelial Dysplasia, Hereditary |
33 |
660 |
|
SCH055 |
Schilbach-Rott Syndrome |
32 |
661 |
|
HMP028 |
Hemophagocytic Syndrome Associated with an Infection |
32 |
662 |
c
|
CTR131 |
Cataract 17, Multiple Types |
32 |
663 |
|
XLN206 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
32 |
664 |
|
OHD003 |
Ohdo Syndrome, X-Linked |
32 |
665 |
c
|
SPS025 |
Spastic Paraplegia 15 |
32 |
666 |
P
|
CMP072 |
Camptodactyly Syndrome, Guadalajara, Type I |
32 |
667 |
c
|
TRC073 |
Treacher Collins Syndrome 2 |
32 |
668 |
c
|
INT430 |
Intellectual Developmental Disorder, X-Linked 98 |
32 |
669 |
c
|
CLR125 |
Ciliary Dyskinesia, Primary, 33 |
32 |
670 |
|
ODN006 |
Odontoma |
32 |
671 |
|
RFM002 |
Roifman-Chitayat Syndrome |
32 |
672 |
c
|
INT342 |
Intellectual Developmental Disorder, X-Linked 108 |
32 |
673 |
P
|
FXG001 |
Foxg1 Syndrome |
32 |
674 |
|
LMB014 |
Limb-Body Wall Complex |
32 |
675 |
c
|
EPS014 |
Episodic Ataxia, Type 3 |
32 |
676 |
|
ADR023 |
Adrenomyodystrophy |
32 |
677 |
P
|
TRC034 |
Torch Syndrome |
32 |
678 |
P
|
NNT042 |
Neonatal Lupus Erythematosus |
32 |
679 |
|
CCN009 |
Cocaine Intoxication |
32 |
680 |
|
TTR012 |
Tetrasomy 9p |
32 |
681 |
|
END014 |
Endemic Typhus |
32 |
682 |
c
|
DMN005 |
Diamond-Blackfan Anemia 2 |
32 |
683 |
c
|
CTR187 |
Cataract 48 |
32 |
684 |
c
|
GLL040 |
Galloway-Mowat Syndrome 3 |
32 |
685 |
|
ALP048 |
Alopecia Totalis |
32 |
686 |
|
QLT008 |
Qualitative or Quantitative Defects of Dysferlin |
32 |
687 |
|
PCT001 |
Pectus Carinatum |
32 |
688 |
c
|
BRT039 |
Baraitser-Winter Syndrome 2 |
32 |
689 |
c
|
PRM022 |
Primary Syphilis |
32 |
690 |
c
|
PRP091 |
Porphyria Cutanea Tarda, Type I |
32 |
691 |
c
|
CTR111 |
Cataract 36 |
32 |
692 |
c
|
CTR185 |
Cataract 30 |
32 |
693 |
c
|
DMN049 |
Diamond-Blackfan Anemia 20 |
32 |
694 |
c
|
KRT078 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
32 |
695 |
c
|
INF185 |
Infantile Epilepsy Syndrome |
32 |
696 |
|
PMP009 |
Pemphigus Erythematosus |
31 |
697 |
|
HML052 |
Hemolytic Anemia, Nonspherocytic, Due to Hexokinase Deficiency |
31 |
698 |
c
|
EPL200 |
Epilepsy, Childhood Absence 1 |
31 |
699 |
|
ENC047 |
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum |
31 |
700 |
c
|
3MT021 |
3-Methylglutaconic Aciduria, Type Viii |
31 |
701 |
c
|
SVR104 |
Severe Congenital Neutropenia 7 |
31 |
702 |
|
HYP719 |
Hyperglycinemia, Lactic Acidosis, and Seizures |
31 |
703 |
|
MTR086 |
Motor Stereotypies |
31 |
704 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
31 |
705 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
31 |
706 |
c
|
SCK033 |
Seckel Syndrome 8 |
31 |
707 |
|
KLB004 |
Klebsiella Infection |
31 |
708 |
c
|
CLR069 |
Ciliary Dyskinesia, Primary, 8 |
31 |
709 |
P
|
VTR008 |
Vitreoretinal Degeneration |
31 |
710 |
c
|
CTR124 |
Cataract 10, Multiple Types |
31 |
711 |
|
CHR247 |
Chromosome 4p Deletion |
31 |
712 |
c
|
CNG514 |
Congenital Radioulnar Synostosis |
31 |
713 |
c
|
BNM010 |
Bone Marrow Failure Syndrome 1 |
31 |
714 |
|
ACT114 |
Acute Myeloblastic Leukemia Without Maturation |
31 |
715 |
c
|
LTC001 |
Late Congenital Syphilis |
31 |
716 |
|
VRS002 |
Virus-Associated Trichodysplasia Spinulosa |
31 |
717 |
|
MTH051 |
Methylmalonic Aciduria and Homocystinuria, Cblj Type |
31 |
718 |
|
RFS003 |
Refsum Disease, Infantile Form |
31 |
719 |
c
|
MYG007 |
Myoglobinuria, Recurrent |
31 |
720 |
|
PYR018 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
31 |
721 |
c
|
CLR116 |
Ciliary Dyskinesia, Primary, 29 |
31 |
722 |
|
TTR014 |
Tetrasomy 18p |
31 |
723 |
|
CRN266 |
Craniofacial Dyssynostosis with Short Stature |
31 |
724 |
|
GLM044 |
Glomerular Disease |
31 |
725 |
|
CHR487 |
Chromosome 8q21.11 Deletion Syndrome |
31 |
726 |
|
IMM237 |
Immunodeficiency 78 with Autoimmunity and Developmental Delay |
31 |
727 |
c
|
CLR138 |
Ciliary Dyskinesia, Primary, 38 |
31 |
728 |
|
ETH012 |
Ethylene Glycol Poisoning |
31 |
729 |
|
JBR032 |
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy |
30 |
730 |
c
|
ACQ042 |
Acquired Hemophilia a |
30 |
731 |
c
|
ALZ050 |
Alzheimer Disease 5 |
30 |
732 |
c
|
CLR143 |
Ciliary Dyskinesia, Primary, 43 |
30 |
733 |
|
LCT003 |
Lactocele |
30 |
734 |
|
MNN021 |
Meningococcemia |
30 |
735 |
P
|
HYP658 |
Hypoplastic Amelogenesis Imperfecta |
30 |
736 |
|
CHR265 |
Chromosome 8p Duplication |
30 |
737 |
c
|
ART060 |
Arthrogryposis, Distal, Type 1b |
30 |
738 |
c
|
ANN020 |
Anencephaly 1 |
30 |
739 |
|
RTB001 |
Rat Bite Fever |
30 |
740 |
P
|
CRN249 |
Cornea Plana |
30 |
741 |
c
|
INT419 |
Intellectual Developmental Disorder, X-Linked 30 |
30 |
742 |
|
MYC017 |
Mycobacterium Kansasii |
30 |
743 |
|
DRM043 |
Dermochondrocorneal Dystrophy |
30 |
744 |
|
PRX072 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
30 |
745 |
c
|
JVN034 |
Juvenile Polyposis of Infancy |
30 |
746 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
30 |
747 |
|
KYS001 |
Kyasanur Forest Disease |
30 |
748 |
c
|
SPS142 |
Spastic Ataxia 2, Autosomal Recessive |
30 |
749 |
P
|
HRD214 |
Hereditary Periodic Fever Syndrome |
30 |
750 |
c
|
PRS031 |
Prostate Carcinoma in Situ |
30 |
751 |
|
SNG003 |
Single Ventricular Heart |
30 |
752 |
c
|
VCT004 |
Vacterl Association with Hydrocephalus |
30 |
753 |
|
CND006 |
Candida Glabrata |
30 |
754 |
c
|
SCK032 |
Seckel Syndrome 6 |
30 |
755 |
|
XNT002 |
Xanthogranulomatous Cholecystitis |
30 |
756 |
|
MYC019 |
Mycobacterium Marinum |
30 |
757 |
|
RFR009 |
Refractory Cytopenia with Multilineage Dysplasia |
30 |
758 |
|
TTR013 |
Tetrasomy X |
30 |
759 |
|
FXD003 |
Fixed Drug Eruption |
30 |
760 |
|
RNL126 |
Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss |
30 |
761 |
c
|
INT425 |
Intellectual Developmental Disorder, X-Linked 19 |
30 |
762 |
c
|
ALT007 |
Alternating Hemiplegia of Childhood 2 |
30 |
763 |
|
HMN002 |
Human Granulocytic Anaplasmosis |
30 |
764 |
c
|
GLC115 |
Galactosemia Iv |
30 |
765 |
|
PHC006 |
Phacomatosis Pigmentovascularis |
30 |
766 |
|
GRN004 |
Granulomatous Amebic Encephalitis |
30 |
767 |
|
SPS016 |
Spasmodic Dysphonia |
29 |
768 |
c
|
OCL047 |
Oculodentodigital Dysplasia, Autosomal Recessive |
29 |
769 |
c
|
ATS204 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
29 |
770 |
c
|
FRN032 |
Frontonasal Dysplasia 3 |
29 |
771 |
c
|
MYG004 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
29 |
772 |
c
|
BRC108 |
Brachydactyly, Type A3 |
29 |
773 |
c
|
CLR067 |
Ciliary Dyskinesia, Primary, 4 |
29 |
774 |
|
HYP728 |
Hypertrichosis, Congenital Generalized, with or Without Gingival Hyperplasia |
29 |
775 |
|
RCM003 |
Recombinant Chromosome 8 Syndrome |
29 |
776 |
c
|
ALZ012 |
Alzheimer Disease 12 |
29 |
777 |
c
|
KLP008 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
29 |
778 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
29 |
779 |
c
|
SPN203 |
Spinocerebellar Ataxia, X-Linked 5 |
29 |
780 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
781 |
|
SCD003 |
Scedosporiosis |
29 |
782 |
|
WLD006 |
Wild Type Abeta2m Amyloidosis |
29 |
783 |
c
|
CLR106 |
Ciliary Dyskinesia, Primary, 26 |
29 |
784 |
c
|
RNG022 |
Ring Chromosome 6 |
29 |
785 |
c
|
CLR104 |
Ciliary Dyskinesia, Primary, 15 |
29 |
786 |
|
SHS001 |
Shashi-Pena Syndrome |
29 |
787 |
|
CHR483 |
Chromosome 3q13.31 Deletion Syndrome |
29 |
788 |
|
URD002 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due to |
29 |
789 |
P
|
TRS029 |
Trisomy 1q |
29 |
790 |
c
|
CLR059 |
Ciliary Dyskinesia, Primary, 13 |
29 |
791 |
c
|
RNG007 |
Ring Chromosome 12 |
29 |
792 |
c
|
CTR141 |
Cataract 21, Multiple Types |
29 |
793 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
794 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
29 |
795 |
|
QNQ002 |
Quinquaud Folliculitis Decalvans |
29 |
796 |
c
|
CWD009 |
Cowden Syndrome 7 |
29 |
797 |
|
PRX035 |
Paroxysmal Dyskinesia |
29 |
798 |
|
MD2001 |
Med23 |
29 |
799 |
|
HVR001 |
Haverhill Fever |
29 |
800 |
|
GRW039 |
Growth Retardation, Developmental Delay, and Facial Dysmorphism |
29 |
801 |
c
|
ATM068 |
Autoimmune Hypoparathyroidism |
29 |
802 |
c
|
MTC075 |
Metachromatic Leukodystrophy, Late Infantile Form |
29 |
803 |
c
|
DMN022 |
Diamond-Blackfan Anemia 9 |
29 |
804 |
|
STR033 |
Storm Syndrome |
29 |
805 |
|
YNH001 |
Yuan-Harel-Lupski Syndrome |
29 |
806 |
c
|
SPS091 |
Spastic Paraplegia 4 |
29 |
807 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
29 |
808 |
|
LCH014 |
Lichen Amyloidosis |
29 |
809 |
c
|
ATS314 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
29 |
810 |
|
CHR182 |
Chromosome 10p Duplication |
29 |
811 |
P
|
INH011 |
Inherited Bone Marrow Failure Syndromes |
28 |
812 |
c
|
ALZ059 |
Alzheimer Disease 13 |
28 |
813 |
|
MTH047 |
Methanol Poisoning |
28 |
814 |
|
49X004 |
49,xyyyy Syndrome |
28 |
815 |
|
CHR621 |
Chromosome 16p11.2 Deletion Syndrome, 593-Kb |
28 |
816 |
|
LPG001 |
Lipogranulomatosis |
28 |
817 |
|
ATR048 |
Atrial Tachyarrhythmia with Short Pr Interval |
28 |
818 |
c
|
ERL003 |
Early Onset Absence Epilepsy |
28 |
819 |
P
|
VCT008 |
Vacterl with Hydrocephalus |
28 |
820 |
|
HML021 |
Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency |
28 |
821 |
c
|
CLR123 |
Ciliary Dyskinesia, Primary, 37 |
28 |
822 |
c
|
ALT008 |
Alternating Hemiplegia of Childhood 1 |
28 |
823 |
c
|
SVR109 |
Severe Congenital Neutropenia 8 |
28 |
824 |
c
|
SPS013 |
Spastic Paraplegia 8 |
28 |
825 |
|
SYS006 |
Say Syndrome |
28 |
826 |
|
LJH001 |
Lujo Hemorrhagic Fever |
28 |
827 |
|
MRN002 |
Mooren's Ulcer |
28 |
828 |
|
CYT004 |
Cytomegalic Inclusion Disease |
28 |
829 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
28 |
830 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
28 |
831 |
c
|
BNM032 |
Bone Marrow Failure Syndrome 4 |
28 |
832 |
c
|
3MT023 |
3-Methylglutaconic Aciduria, Type Ix |
28 |
833 |
c
|
CLR097 |
Ciliary Dyskinesia, Primary, 23 |
28 |
834 |
c
|
SPN380 |
Spinal Muscular Atrophy with Congenital Bone Fractures 2 |
28 |
835 |
c
|
HML035 |
Hemolytic Uremic Syndrome, Atypical 2 |
28 |
836 |
c
|
PRG140 |
Progressive Myoclonus Epilepsy 4 |
28 |
837 |
c
|
INT434 |
Intellectual Developmental Disorder, X-Linked 12 |
28 |
838 |
|
DQR001 |
De Quervain Disease |
28 |
839 |
c
|
HYP528 |
Hypotrichosis 11 |
28 |
840 |
|
FTL029 |
Fetal Thalidomide Syndrome |
28 |
841 |
c
|
RNG005 |
Ring Chromosome 10 |
28 |
842 |
|
HLP004 |
Holoprosencephaly, Recurrent Infections, and Monocytosis |
28 |
843 |
c
|
DMN019 |
Diamond-Blackfan Anemia 4 |
28 |
844 |
c
|
ERL002 |
Early Congenital Syphilis |
28 |
845 |
|
PTC005 |
Pituicytoma |
28 |
846 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
28 |
847 |
|
LDD006 |
Ledderhose Disease |
28 |
848 |
|
KLB005 |
Kleeblattschaedel |
28 |
849 |
|
CHR212 |
Chromosome 18p Duplication |
28 |
850 |
|
GNT162 |
Genetic Non-Acquired Premature Ovarian Failure |
28 |
851 |
|
PNL002 |
Pineal Parenchymal Tumor of Intermediate Differentiation |
28 |
852 |
c
|
NRL039 |
Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 2 |
28 |
853 |
c
|
NNT025 |
Neonatal Systemic Lupus Erythematosus |
28 |
854 |
|
QLT002 |
Qualitative or Quantitative Defects of Dystrophin |
28 |
855 |
|
GLY054 |
Glycogen Storage Disease Due to Phosphorylase Kinase Deficiency |
28 |
856 |
|
FNC050 |
Functioning Gonadotropic Adenoma |
28 |
857 |
|
ICH062 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
28 |
858 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
27 |
859 |
c
|
CNG626 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive |
27 |
860 |
|
CHR369 |
Chromosome Xq28 Duplication Syndrome |
27 |
861 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
27 |
862 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
27 |
863 |
c
|
GNR040 |
Generalized Epilepsy with Febrile Seizures Plus, Type 4 |
27 |
864 |
P
|
VNM004 |
Van Maldergem Syndrome |
27 |
865 |
c
|
TMR020 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
27 |
866 |
c
|
ERL004 |
Early Yaws |
27 |
867 |
|
ORF053 |
Orofacial Clefting Syndrome |
27 |
868 |
c
|
CLR054 |
Ciliary Dyskinesia, Primary, 12 |
27 |
869 |
c
|
ACQ016 |
Acquired Pure Red Cell Aplasia |
27 |
870 |
P
|
PST016 |
Posterior Polar Cataract |
27 |
871 |
|
CNG065 |
Congenital Contractures |
27 |
872 |
c
|
BNM013 |
Bone Marrow Failure Syndrome 3 |
27 |
873 |
|
PLS031 |
Plastic Bronchitis |
27 |
874 |
|
BLV001 |
Bolivian Hemorrhagic Fever |
27 |
875 |
c
|
C3G003 |
C3 Glomerulopathy 3 |
27 |
876 |
|
RDL022 |
Radial Hemimelia |
27 |
877 |
c
|
PRX067 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
27 |
878 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
879 |
c
|
CTR180 |
Cataract 22, Multiple Types |
27 |
880 |
|
IQS001 |
Iqsec2 |
27 |
881 |
c
|
EPS048 |
Episodic Ataxia, Type 9 |
27 |
882 |
P
|
PLY187 |
Polyarticular Juvenile Idiopathic Arthritis |
27 |
883 |
|
MYC001 |
Myoclonic Cerebellar Dyssynergia |
27 |
884 |
P
|
SPN382 |
Spinal Muscular Atrophy with Congenital Bone Fractures 1 |
27 |
885 |
c
|
AML006 |
Amelogenesis Imperfecta Hypoplastic Type, Ig |
27 |
886 |
c
|
CLR092 |
Ciliary Dyskinesia, Primary, 18 |
27 |
887 |
c
|
MCR282 |
Microcephaly and Chorioretinopathy 1 |
27 |
888 |
|
MNN042 |
Meningioma, Radiation-Induced |
27 |
889 |
|
CHN053 |
Chondromyxoid Fibroma |
27 |
890 |
P
|
RNG032 |
Ring Chromosome |
27 |
891 |
c
|
HYP515 |
Hypotrichosis 3 |
27 |
892 |
c
|
HML034 |
Hemolytic Uremic Syndrome, Atypical 3 |
27 |
893 |
|
PRT085 |
Peritoneal Cystic Mesothelioma |
27 |
894 |
c
|
HYP578 |
Hypotrichosis 12 |
27 |
895 |
c
|
RNL095 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
27 |
896 |
|
CRY010 |
Cryptophthalmos |
27 |
897 |
c
|
CLR102 |
Ciliary Dyskinesia, Primary, 17 |
27 |
898 |
c
|
INT420 |
Intellectual Developmental Disorder, X-Linked 93 |
27 |
899 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
27 |
900 |
|
ATR055 |
Atrial Septal Aneurysm |
27 |
901 |
c
|
INT431 |
Intellectual Developmental Disorder, X-Linked 99 |
27 |
902 |
|
PRX097 |
Paroxysmal Dystonia |
27 |
903 |
c
|
HYP720 |
Hyperparathyroidism 4 |
27 |
904 |
c
|
ACR124 |
Aicardi-Goutieres Syndrome 9 |
27 |
905 |
c
|
ATS367 |
Autism X-Linked 3 |
26 |
906 |
|
XNT009 |
Xanthoma Disseminatum |
26 |
907 |
|
LNR004 |
Linear Porokeratosis |
26 |
908 |
c
|
HML037 |
Hemolytic Uremic Syndrome, Atypical 5 |
26 |
909 |
|
SPS093 |
Spastic Diplegia Cerebral Palsy |
26 |
910 |
|
CHR252 |
Chromosome 5p Duplication |
26 |
911 |
c
|
PRX094 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
26 |
912 |
c
|
PLZ002 |
Pelizaeus-Merzbacher-Like Disease |
26 |
913 |
|
NKJ001 |
Nakajo Syndrome |
26 |
914 |
c
|
CTR116 |
Cataract 15, Multiple Types |
26 |
915 |
|
SCR024 |
Sacrococcygeal Teratoma |
26 |
916 |
|
MTP033 |
Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria |
26 |
917 |
|
NRL008 |
Neural Crest Tumor |
26 |
918 |
|
KRB005 |
Krabbe Disease, Atypical, Due to Saposin a Deficiency |
26 |
919 |
|
HYD054 |
Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation |
26 |
920 |
|
ACR107 |
Acrofacial Dysostosis, Palagonia Type |
26 |
921 |
c
|
FRM005 |
Frmd7-Related Infantile Nystagmus |
26 |
922 |
c
|
CLR053 |
Ciliary Dyskinesia, Primary, 11 |
26 |
923 |
c
|
INT447 |
Intellectual Developmental Disorder, X-Linked 9 |
26 |
924 |
|
ELC001 |
Elective Mutism |
26 |
925 |
c
|
CLR117 |
Ciliary Dyskinesia, Primary, 32 |
26 |
926 |
c
|
TMR019 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
26 |
927 |
c
|
PRS080 |
Prostate Cancer, Hereditary, 7 |
26 |
928 |
c
|
GLL042 |
Galloway-Mowat Syndrome 5 |
26 |
929 |
c
|
VNT024 |
Ventricular Septal Defect 3 |
26 |
930 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
26 |
931 |
c
|
FBR079 |
Fibromatosis, Gingival, 2 |
26 |
932 |
|
FRN014 |
Fournier Gangrene |
26 |
933 |
|
ACT239 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
26 |
934 |
|
PTN004 |
Patent Ductus Venosus |
26 |
935 |
c
|
SLV020 |
Silver-Russell Syndrome Due to a Point Mutation |
26 |
936 |
|
CHR208 |
Chromosome 17p Deletion |
26 |
937 |
c
|
HML032 |
Hemolytic Uremic Syndrome, Atypical 4 |
26 |
938 |
c
|
CNG623 |
Congenital Disorder of Glycosylation, Type Iiw |
26 |
939 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
26 |
940 |
|
ICH011 |
Ichthyosis Follicularis Atrichia Photophobia Syndrome |
26 |
941 |
c
|
SYN088 |
Synpolydactyly 2 |
26 |
942 |
|
NNS134 |
Non-Syndromic Bicoronal Craniosynostosis |
26 |
943 |
c
|
ALZ016 |
Alzheimer Disease 8 |
26 |
944 |
|
CMD005 |
Cimdag Syndrome |
26 |
945 |
|
NNS011 |
Nonseminomatous Germ Cell Tumor |
26 |
946 |
c
|
ALZ014 |
Alzheimer Disease 16 |
26 |
947 |
c
|
CTR105 |
Cataract 12, Multiple Types |
26 |
948 |
c
|
CNG622 |
Congenital Disorder of Glycosylation, Type 2v |
26 |
949 |
c
|
RDL040 |
Radioulnar Synostosis, Nonsyndromic |
26 |
950 |
c
|
CTR166 |
Cataract 33, Multiple Types |
26 |
951 |
c
|
VSC066 |
Visceral Myopathy 2 |
26 |
952 |
P
|
ADD006 |
Adducted Thumbs Syndrome |
26 |
953 |
c
|
CTR121 |
Cataract 25 |
26 |
954 |
c
|
INT439 |
Intellectual Developmental Disorder, X-Linked 104 |
26 |
955 |
c
|
CTR097 |
Cataract 34, Multiple Types |
26 |
956 |
|
MYC014 |
Mycobacterium Chelonae |
25 |
957 |
|
ACT228 |
Acute Radiation Syndrome |
25 |
958 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
959 |
|
ANS017 |
Anosmia, Isolated Congenital |
25 |
960 |
c
|
PRG142 |
Progressive Myoclonus Epilepsy 3 |
25 |
961 |
c
|
CLR099 |
Ciliary Dyskinesia, Primary, 16 |
25 |
962 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
25 |
963 |
c
|
NNP011 |
Nanophthalmos 2 |
25 |
964 |
c
|
FRN037 |
Frontal Encephalocele |
25 |
965 |
|
CMB084 |
Combined Oxidative Phosphorylation Deficiency 34 |
25 |
966 |
|
SPN141 |
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech |
25 |
967 |
c
|
GLL045 |
Galloway-Mowat Syndrome 6 |
25 |
968 |
|
THY098 |
Thyroid Ectopia |
25 |
969 |
c
|
GLL046 |
Galloway-Mowat Syndrome 7 |
25 |
970 |
P
|
PRG139 |
Progeroid Syndrome |
25 |
971 |
c
|
INT442 |
Intellectual Developmental Disorder, X-Linked 106 |
25 |
972 |
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
25 |
973 |
|
NNS133 |
Non-Syndromic Metopic Craniosynostosis |
25 |
974 |
|
LYS029 |
Lysosomal Disease |
25 |
975 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
25 |
976 |
c
|
DYS212 |
Dystonia 30 |
25 |
977 |
|
HRP011 |
Herpes Zoster Ophthalmicus |
25 |
978 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
25 |
979 |
c
|
ANM032 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
25 |
980 |
|
GLC025 |
Galactorrhoea-Hyperprolactinaemia |
25 |
981 |
|
HYP181 |
Hypertrichosis Lanuginosa, Acquired |
25 |
982 |
|
ATR053 |
Atresia of Urethra |
25 |
983 |
|
MYC015 |
Mycobacterium Fortuitum |
25 |
984 |
c
|
INT413 |
Intellectual Developmental Disorder, X-Linked 63 |
25 |
985 |
c
|
ANX011 |
Anauxetic Dysplasia 3 |
25 |
986 |
c
|
KLF002 |
Kleefstra Syndrome Due to a Point Mutation |
25 |
987 |
|
8PN001 |
8p Inverted Duplication/deletion Syndrome |
25 |
988 |
c
|
ATS358 |
Autism X-Linked 6 |
25 |
989 |
P
|
PRK067 |
Porokeratosis 8, Disseminated Superficial Actinic Type |
25 |
990 |
c
|
PRS071 |
Prostate Cancer, Hereditary, 13 |
25 |
991 |
c
|
TRS025 |
Torsion Dystonia 2 |
25 |
992 |
c
|
DMN045 |
Diamond-Blackfan Anemia-Like |
25 |
993 |
c
|
BNM011 |
Bone Marrow Failure Syndrome 2 |
25 |
994 |
c
|
ALP099 |
Alopecia, Congenital |
25 |
995 |
c
|
SVR108 |
Severe Congenital Neutropenia 6 |
25 |
996 |
c
|
HML036 |
Hemolytic Uremic Syndrome, Atypical 6 |
25 |
997 |
c
|
ALZ015 |
Alzheimer Disease 6 |
25 |
998 |
|
CHR416 |
Chromosome 17q Deletion |
25 |
999 |
c
|
GLL041 |
Galloway-Mowat Syndrome 4 |
25 |
1000 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
25 |
1001 |
|
PRS115 |
Prosthetic Joint Infection |
25 |
1002 |
|
EF001 |
Eaf |
25 |
1003 |
|
INV022 |
Inverted Duplicated Chromosome 15 Syndrome |
25 |
1004 |
c
|
GNR046 |
Generalized Epilepsy with Febrile Seizures Plus, Type 10 |
25 |
1005 |
c
|
CLR107 |
Ciliary Dyskinesia, Primary, 24 |
25 |
1006 |
|
SPC030 |
Specific Language Disorder |
24 |
1007 |
|
PSD050 |
Pseudoxanthoma Elasticum, Forme Fruste |
24 |
1008 |
c
|
ACT259 |
Acute Myeloid Leukemia with T(6;9) (p23;q34.1) |
24 |
1009 |
c
|
ACR105 |
Acrofrontofacionasal Dysostosis 2 |
24 |
1010 |
c
|
NNP012 |
Nanophthalmos 4 |
24 |
1011 |
c
|
SCK037 |
Seckel Syndrome 9 |
24 |
1012 |
c
|
INT424 |
Intellectual Developmental Disorder, X-Linked 97 |
24 |
1013 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
1014 |
c
|
ANM027 |
Anemia, Hypochromic Microcytic, with Iron Overload 2 |
24 |
1015 |
c
|
ATS365 |
Autism X-Linked 1 |
24 |
1016 |
c
|
SCK038 |
Seckel Syndrome 10 |
24 |
1017 |
P
|
PLY188 |
Polyendocrinopathy |
24 |
1018 |
|
CNG429 |
Congenital Myasthenic Syndromes with Glycosylation Defect |
24 |
1019 |
|
RCK003 |
Rickettsialpox |
24 |
1020 |
c
|
CNG627 |
Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant |
24 |
1021 |
|
PRG116 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
24 |
1022 |
|
ART154 |
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development |
24 |
1023 |
|
MTP004 |
Metaphyseal Acroscyphodysplasia |
24 |
1024 |
c
|
ATS268 |
Autism X-Linked 4 |
24 |
1025 |
c
|
GLC054 |
Glaucoma 3, Primary Congenital, D |
24 |
1026 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
24 |
1027 |
c
|
INT427 |
Intellectual Developmental Disorder, X-Linked 90 |
24 |
1028 |
|
DRG016 |
Drug Induced Dyskinesia |
24 |
1029 |
|
SPR067 |
Sporadic Adult-Onset Ataxia of Unknown Etiology |
24 |
1030 |
c
|
CLR088 |
Ciliary Dyskinesia, Primary, 21 |
24 |
1031 |
|
PRN035 |
Perniosis |
24 |
1032 |
P
|
PHC014 |
Phocomelia |
24 |
1033 |
c
|
DYS068 |
Dystonia 7, Torsion |
24 |
1034 |
c
|
WLL038 |
Weill-Marchesani Syndrome 3 |
24 |
1035 |
|
16P004 |
16p13.11 Microduplication Syndrome |
24 |
1036 |
|
MLN084 |
Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation |
24 |
1037 |
|
CHR555 |
Chromosome 3p- Syndrome |
24 |
1038 |
P
|
PHC019 |
Pheochromocytoma-Paraganglioma |
24 |
1039 |
c
|
HRD212 |
Hereditary Episodic Ataxia |
24 |
1040 |
|
ATX037 |
Ataxia-Deafness-Retardation Syndrome |
24 |
1041 |
|
16P003 |
16p13.11 Microdeletion Syndrome |
24 |
1042 |
c
|
TRS027 |
Torsion Dystonia 4 |
24 |
1043 |
c
|
CTR169 |
Cataract 29 |
24 |
1044 |
c
|
INT426 |
Intellectual Developmental Disorder, X-Linked 41 |
24 |
1045 |
|
CLC053 |
Colchicine Poisoning |
24 |
1046 |
c
|
ATM066 |
Autoimmune Polyendocrinopathy Type 4 |
24 |
1047 |
c
|
DMN028 |
Diamond-Blackfan Anemia 12 |
24 |
1048 |
|
MYP104 |
Myopathy, Vacuolar, with Casq1 Aggregates |
24 |
1049 |
|
SNK001 |
Snakebite Envenomation |
24 |
1050 |
c
|
ACR123 |
Aicardi-Goutieres Syndrome 8 |
24 |
1051 |
c
|
INT397 |
Intellectual Developmental Disorder, X-Linked 50 |
24 |
1052 |
|
MST020 |
Mast Cell Activation Syndrome |
24 |
1053 |
|
TRC037 |
Tracheobronchomalacia |
24 |
1054 |
|
TRP020 |
Tropical Endomyocardial Fibrosis |
24 |
1055 |
c
|
SYS081 |
Systemic Lupus Erythematosus 17 |
24 |
1056 |
c
|
PRS117 |
Prostate Cancer, Hereditary, 11 |
24 |
1057 |
|
NPH027 |
Nipah Virus Encephalitis |
24 |
1058 |
c
|
CTR165 |
Cataract 19, Multiple Types |
24 |
1059 |
|
GGN004 |
Gigantomastia |
24 |
1060 |
c
|
INT411 |
Intellectual Developmental Disorder, X-Linked 72 |
24 |
1061 |
c
|
MCR272 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 |
24 |
1062 |
|
CHR703 |
Chromosome 17q11.2 Duplication Syndrome, 1.4-Mb |
24 |
1063 |
c
|
SPS042 |
Spastic Paraplegia 9 |
24 |
1064 |
c
|
CLR139 |
Ciliary Dyskinesia, Primary, 39 |
24 |
1065 |
c
|
CLR142 |
Ciliary Dyskinesia, Primary, 42 |
24 |
1066 |
|
DBL004 |
Double Discordia |
24 |
1067 |
c
|
DYS138 |
Dystonia 21 |
23 |
1068 |
c
|
CTR162 |
Cataract 47 |
23 |
1069 |
c
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
23 |
1070 |
c
|
INS009 |
Insulin-Resistance Type B |
23 |
1071 |
|
GNR023 |
Generalized Eruptive Histiocytosis |
23 |
1072 |
|
ANL024 |
Anal Atresia, Hypospadias, and Penoscrotal Inversion |
23 |
1073 |
c
|
SCN059 |
Secondary Sclerosing Cholangitis |
23 |
1074 |
|
FLL042 |
Folliculotropic Mycosis Fungoides |
23 |
1075 |
|
MYC013 |
Mycobacterium Abscessus |
23 |
1076 |
|
CHR158 |
Charles Bonnet Syndrome |
23 |
1077 |
c
|
CHL114 |
Chilblain Lupus 2 |
23 |
1078 |
|
NNT021 |
Neonatal Meningitis |
23 |
1079 |
c
|
NYS016 |
Nystagmus 7, Congenital, Autosomal Dominant |
23 |
1080 |
c
|
CRB226 |
Cerebral Cavernous Malformations 4 |
23 |
1081 |
c
|
GLL053 |
Galloway-Mowat Syndrome 10 |
23 |
1082 |
c
|
ALZ032 |
Alzheimer Disease 18 |
23 |
1083 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
23 |
1084 |
c
|
CTR136 |
Cataract 41 |
23 |
1085 |
|
CLV012 |
Clavicle, Pseudarthrosis of, Congenital |
23 |
1086 |
|
ATH004 |
Athetosis |
23 |
1087 |
c
|
ATS209 |
Autosomal Dominant Secondary Polycythemia |
23 |
1088 |
c
|
46X011 |
46, Xy Disorders of Sexual Development |
23 |
1089 |
|
HVY002 |
Heavy Metal Poisoning |
23 |
1090 |
|
HRD218 |
Hereditary Stomatocytosis |
23 |
1091 |
c
|
CTR157 |
Cataract 28 |
23 |
1092 |
P
|
ADL037 |
Adult Xanthogranuloma |
23 |
1093 |
c
|
MCR283 |
Microcephaly and Chorioretinopathy 2 |
23 |
1094 |
c
|
NTR056 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
23 |
1095 |
|
STR077 |
Streptococcal Toxic-Shock Syndrome |
23 |
1096 |
|
LMN011 |
Laminopathy |
23 |
1097 |
c
|
CTR158 |
Cataract 37 |
23 |
1098 |
|
STR088 |
Stratton-Parker Syndrome |
23 |
1099 |
c
|
CRB209 |
Cerebellar Malformation |
23 |
1100 |
|
CRS011 |
Criss-Cross Heart |
23 |
1101 |
|
LCT017 |
Lactate Dehydrogenase B Deficiency |
23 |
1102 |
|
SNN001 |
Sennetsu Fever |
23 |
1103 |
c
|
DYS219 |
Dystonia 33 |
23 |
1104 |
c
|
GNR013 |
Generalized Epilepsy with Febrile Seizures Plus, Type 6 |
23 |
1105 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
23 |
1106 |
|
MNT259 |
Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies |
23 |
1107 |
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
23 |
1108 |
c
|
ALZ053 |
Alzheimer Disease 7 |
23 |
1109 |
|
SDD004 |
Sudden Arrhythmia Death Syndrome |
23 |
1110 |
c
|
ANG072 |
Angioedema, Hereditary, 4 |
23 |
1111 |
c
|
CLR126 |
Ciliary Dyskinesia, Primary, 35 |
23 |
1112 |
c
|
GLL047 |
Galloway-Mowat Syndrome 8 |
23 |
1113 |
c
|
EPL136 |
Epilepsy, Childhood Absence 5 |
23 |
1114 |
|
FLY003 |
Flynn-Aird Syndrome |
23 |
1115 |
|
BRC020 |
Brachydactylous Dwarfism Mseleni Type |
23 |
1116 |
c
|
VNT026 |
Ventricular Septal Defect 2 |
23 |
1117 |
c
|
RDC016 |
Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset |
23 |
1118 |
|
CMP039 |
Camptodactyly 1 |
23 |
1119 |
|
CHR612 |
Chromosome 15q14 Deletion Syndrome |
23 |
1120 |
c
|
RFR014 |
Refractory Anemia with Excess Blasts Type 2 |
23 |
1121 |
c
|
DMN030 |
Diamond-Blackfan Anemia 13 |
23 |
1122 |
c
|
BNM033 |
Bone Marrow Failure Syndrome 5 |
23 |
1123 |
c
|
DYS216 |
Dystonia 32 |
23 |
1124 |
P
|
8P1002 |
8p11 Myeloproliferative Syndrome |
22 |
1125 |
|
CTR027 |
Cataract-Glaucoma |
22 |
1126 |
|
CNG113 |
Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency |
22 |
1127 |
c
|
RNG025 |
Ring Chromosome 9 |
22 |
1128 |
|
ADN085 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due to |
22 |
1129 |
c
|
ALZ060 |
Alzheimer Disease 14 |
22 |
1130 |
c
|
OST171 |
Osteopetrosis, Autosomal Dominant 3 |
22 |
1131 |
|
ANT065 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
22 |
1132 |
c
|
HRN024 |
Horner Syndrome, Congenital |
22 |
1133 |
P
|
RDC012 |
Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset |
22 |
1134 |
c
|
CTR184 |
Cataract 39, Multiple Types |
22 |
1135 |
c
|
ALZ031 |
Alzheimer Disease 17 |
22 |
1136 |
c
|
CHR059 |
Chronic Endophthalmitis |
22 |
1137 |
c
|
ACQ004 |
Acquired Hemangioma |
22 |
1138 |
|
FBR087 |
Fibromatosis, Gingival, with Distinctive Facies |
22 |
1139 |
|
SCH025 |
Schisis Association |
22 |
1140 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
22 |
1141 |
c
|
STC012 |
Stickler Syndrome, Type Iv |
22 |
1142 |
c
|
PRK106 |
Parkinsonism-Dystonia 2, Infantile-Onset |
22 |
1143 |
c
|
ACT195 |
Acute Myeloid Leukemia with T(9;11)(p22;q23) |
22 |
1144 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
22 |
1145 |
|
SPR064 |
Supernumerary Breasts |
22 |
1146 |
|
CHR368 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
22 |
1147 |
|
VSC014 |
Vascular Hyalinosis |
22 |
1148 |
c
|
CTR106 |
Cataract 20, Multiple Types |
22 |
1149 |
c
|
SYS040 |
Systemic Lupus Erythematosus 10 |
22 |
1150 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
22 |
1151 |
c
|
MCR244 |
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 |
22 |
1152 |
|
BLL015 |
Bullous Lichen Planus |
22 |
1153 |
c
|
SPR070 |
Sporadic Infantile Bilateral Striatal Necrosis |
22 |
1154 |
P
|
QLT011 |
Qualitative or Quantitative Defects of Sarcoglycan |
22 |
1155 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
22 |
1156 |
c
|
CLR145 |
Ciliary Dyskinesia, Primary, 45 |
22 |
1157 |
|
INT231 |
Intellectual Disability - Athetosis - Microphthalmia |
22 |
1158 |
|
ATH012 |
Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease |
22 |
1159 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
22 |
1160 |
|
PSD043 |
Pseudopelade of Brocq |
22 |
1161 |
|
HTT002 |
Hutterite Cerebroosteonephrodysplasia Syndrome |
22 |
1162 |
|
ULN014 |
Ulnar Hemimelia |
22 |
1163 |
|
NNT024 |
Neonatal Stroke |
22 |
1164 |
c
|
PRS070 |
Prostate Cancer, Hereditary, 12 |
22 |
1165 |
c
|
INT406 |
Intellectual Developmental Disorder, X-Linked 58 |
22 |
1166 |
|
PYT001 |
Pythiosis |
22 |
1167 |
c
|
CLR124 |
Ciliary Dyskinesia, Primary, 34 |
22 |
1168 |
c
|
3MT026 |
3-Methylglutaconic Aciduria, Type Viia |
22 |
1169 |
|
CHR610 |
Chromosome 10q22.3-Q23.2 Deletion Syndrome |
22 |
1170 |
c
|
CTR110 |
Cataract 26, Multiple Types |
22 |
1171 |
|
HYP641 |
Hypotrichosis Simplex of the Scalp |
22 |
1172 |
c
|
INT438 |
Intellectual Developmental Disorder, X-Linked 103 |
22 |
1173 |
|
DRG014 |
Drug-Induced Autoimmune Hemolytic Anemia |
22 |
1174 |
c
|
SCN048 |
Secondary Syringomyelia |
22 |
1175 |
c
|
DYS214 |
Dystonia 31 |
22 |
1176 |
c
|
EPL137 |
Epilepsy, Childhood Absence 6 |
22 |
1177 |
c
|
CNG618 |
Congenital Nystagmus 1 |
22 |
1178 |
|
ULN005 |
Ulna and Fibula, Hypoplasia of |
22 |
1179 |
|
ACT174 |
Acute Peripheral Arterial Occlusion |
22 |
1180 |
c
|
PRG143 |
Progressive Myoclonus Epilepsy 7 |
22 |
1181 |
c
|
TRS012 |
Trisomy 22 |
22 |
1182 |
|
LJN002 |
Lujan Syndrome |
22 |
1183 |
|
DST045 |
Distal Trisomy 6p |
22 |
1184 |
c
|
SYS038 |
Systemic Lupus Erythematosus 2 |
22 |
1185 |
c
|
RNG012 |
Ring Chromosome 17 |
22 |
1186 |
|
MCR308 |
Microcephalic Primordial Dwarfism, Toriello Type |
22 |
1187 |
|
CHR567 |
Chromosome 5q12 Deletion Syndrome |
22 |
1188 |
P
|
HRT017 |
Heart Tumor |
22 |
1189 |
|
HYP188 |
Hypnic Headache |
22 |
1190 |
c
|
SYS069 |
Systemic Lupus Erythematosus 6 |
22 |
1191 |
|
AML004 |
Ameloblastic Carcinoma |
22 |
1192 |
c
|
PLY065 |
Polyarticular Onset Juvenile Idiopathic Arthritis |
22 |
1193 |
c
|
GLC089 |
Glaucoma 3, Primary Congenital, E |
22 |
1194 |
|
NWD001 |
New Daily-Persistent Headache |
22 |
1195 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
21 |
1196 |
c
|
SBC004 |
Subacute Myeloid Leukemia |
21 |
1197 |
|
CYN003 |
Cyanide Poisoning |
21 |
1198 |
c
|
SLV019 |
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 |
21 |
1199 |
|
CRT061 |
Cor Triatriatum Dexter |
21 |
1200 |
|
CRN309 |
Cranial Neuralgia |
21 |
1201 |
|
RTR012 |
Retroperitoneal Liposarcoma |
21 |
1202 |
P
|
IDP049 |
Idiopathic Anterior Uveitis |
21 |
1203 |
|
LKN005 |
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema |
21 |
1204 |
P
|
PTR018 |
Paternal Uniparental Disomy of Chromosome 6 |
21 |
1205 |
c
|
TRC126 |
Treacher Collins Syndrome 4 |
21 |
1206 |
c
|
HYP832 |
Hypotrichosis 14 |
21 |
1207 |
P
|
CNG070 |
Congenital Dislocation of the Patella |
21 |
1208 |
|
MRF007 |
Marfanoid Hypermobility Syndrome |
21 |
1209 |
|
LWG005 |
Low-Grade Astrocytoma |
21 |
1210 |
c
|
INT445 |
Intellectual Developmental Disorder, X-Linked 107 |
21 |
1211 |
c
|
CTR160 |
Cataract 45 |
21 |
1212 |
|
TTR018 |
Tetragametic Chimerism |
21 |
1213 |
|
CCC003 |
Coccygodynia |
21 |
1214 |
c
|
CLR144 |
Ciliary Dyskinesia, Primary, 44 |
21 |
1215 |
c
|
STC020 |
Stickler Syndrome, Type Vi |
21 |
1216 |
|
SMM003 |
Summitt Syndrome |
21 |
1217 |
|
MSM019 |
Mesomelic Dysplasia, Savarirayan Type |
21 |
1218 |
|
MYP064 |
Myopericytoma |
21 |
1219 |
|
DST059 |
Distal Trisomy 17q |
21 |
1220 |
c
|
CLC048 |
Celiac Disease 3 |
21 |
1221 |
|
THM005 |
Thumb Deformity |
21 |
1222 |
c
|
NNP017 |
Nanophthalmos 1 |
21 |
1223 |
|
SPS087 |
Spasmus Nutans |
21 |
1224 |
|
PNH004 |
Panhypophysitis |
21 |
1225 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
21 |
1226 |
|
CNG519 |
Congenital Gerbode Defect |
21 |
1227 |
|
RTH002 |
Rutherfurd Syndrome |
21 |
1228 |
c
|
CTR144 |
Cataract 43 |
21 |
1229 |
|
TRC114 |
Trichodental Dysplasia |
21 |
1230 |
|
PDT027 |
Pediatric Ulcerative Colitis |
21 |
1231 |
c
|
CTR178 |
Cataract 27 |
21 |
1232 |
|
SYN149 |
Syndromic Rod-Cone Dystrophy |
21 |
1233 |
c
|
HRD198 |
Hereditary Dystonia |
21 |
1234 |
|
HMP027 |
Hemiparkinsonism-Hemiatrophy Syndrome |
21 |
1235 |
|
PPL053 |
Papillomatosis, Florid, of Nipple |
21 |
1236 |
|
HYP685 |
Hypergonadotropic Hypogonadism and Partial Alopecia |
21 |
1237 |
|
HST018 |
Histiocytosis, Progressive Mucinous |
21 |
1238 |
|
PDT041 |
Pediatric Arterial Ischemic Stroke |
21 |
1239 |
P
|
CTS012 |
Cutis Verticis Gyrata |
21 |
1240 |
c
|
PRG146 |
Progressive Myoclonus Epilepsy 9 |
21 |
1241 |
|
LNR010 |
Linear Lichen Planus |
21 |
1242 |
|
EPG004 |
Epignathus |
21 |
1243 |
|
ERY023 |
Erythroplakia |
21 |
1244 |
c
|
ZKV002 |
Zika Virus Congenital Syndrome |
21 |
1245 |
|
GLC039 |
Glucosephosphate Isomerase Deficiency |
21 |
1246 |
|
PST040 |
Posterior Column Ataxia |
21 |
1247 |
c
|
BNM034 |
Bone Marrow Failure Syndrome 6 |
21 |
1248 |
|
EXN003 |
Exencephaly |
21 |
1249 |
|
MYC021 |
Mycobacterium Xenopi |
21 |
1250 |
|
PST114 |
Postinfectious Cerebellitis |
21 |
1251 |
|
CRN308 |
Coronary Arterial Fistula |
21 |
1252 |
|
PNC059 |
Punctate Inner Choroidopathy |
21 |
1253 |
|
BRC046 |
Brachyphalangy, Polydactyly, and Tibial Aplasia/hypoplasia |
21 |
1254 |
|
BRT037 |
Brittle Diabetes |
21 |
1255 |
|
IDP034 |
Idiopathic Central Precocious Puberty |
21 |
1256 |
c
|
ADL071 |
Adult Krabbe Disease |
21 |
1257 |
|
CGT001 |
Ciguatera Fish Poisoning |
21 |
1258 |
|
BDY022 |
Body Integrity Dysphoria |
21 |
1259 |
|
SYN106 |
Syndromic Craniosynostosis |
21 |
1260 |
|
NNF008 |
Non-Functioning Paraganglioma |
21 |
1261 |
c
|
INT423 |
Intellectual Developmental Disorder, X-Linked 96 |
21 |
1262 |
c
|
DYS223 |
Dystonia 28 |
21 |
1263 |
c
|
DMN040 |
Diamond-Blackfan Anemia 16 |
20 |
1264 |
|
1QD001 |
1q Duplications |
20 |
1265 |
|
NDD001 |
Nodding Syndrome |
20 |
1266 |
|
HYP878 |
Hypomyelination of Early Myelinating Structures |
20 |
1267 |
c
|
HYP573 |
Hypotrichosis 5 |
20 |
1268 |
c
|
CTR128 |
Cataract 33 |
20 |
1269 |
c
|
SPN403 |
Spinocerebellar Ataxia, X-Linked 2 |
20 |
1270 |
c
|
DYS184 |
Dystonia 17, Torsion, Autosomal Recessive |
20 |
1271 |
c
|
ACR103 |
Acrofrontofacionasal Dysostosis 1 |
20 |
1272 |
c
|
CTR159 |
Cataract 35 |
20 |
1273 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
20 |
1274 |
|
FND006 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
20 |
1275 |
P
|
ERL043 |
Early-Onset Nuclear Cataract |
20 |
1276 |
c
|
NYS003 |
Nystagmus 2, Congenital, Autosomal Dominant |
20 |
1277 |
|
HTR005 |
Heterochromia Iridis |
20 |
1278 |
c
|
GLL052 |
Galloway-Mowat Syndrome 9 |
20 |
1279 |
c
|
ANM039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
20 |
1280 |
c
|
INT496 |
Intellectual Developmental Disorder, X-Linked 45 |
20 |
1281 |
c
|
ANG053 |
Angelman Syndrome Due to Maternal 15q11q13 Deletion |
20 |
1282 |
c
|
CTR139 |
Cataract 42 |
20 |
1283 |
|
ISD002 |
Isodicentric Chromosome 15 Syndrome |
20 |
1284 |
|
ENG004 |
Engraftment Syndrome |
20 |
1285 |
|
PRM157 |
Primary Progressive Freezing Gait |
20 |
1286 |
|
GRW021 |
Growing Teratoma Syndrome |
20 |
1287 |
|
CHN067 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
20 |
1288 |
c
|
ANG073 |
Angioedema, Hereditary, 5 |
20 |
1289 |
|
TRS010 |
Trisomy 17 Mosaicism |
20 |
1290 |
|
DSS012 |
Disseminated Infection with Mycobacterium Avium Complex |
20 |
1291 |
|
MTH086 |
Methotrexate Toxicity |
20 |
1292 |
|
ORF044 |
Orofacial Granulomatosis |
20 |
1293 |
|
8P1001 |
8p11.2 Deletion Syndrome |
20 |
1294 |
c
|
CLC046 |
Celiac Disease 5 |
20 |
1295 |
|
EGL001 |
Eagle Syndrome |
20 |
1296 |
|
PTR029 |
Pterygium, Antecubital |
20 |
1297 |
P
|
HRD209 |
Hereditary Angioedema with Normal C1inh |
20 |
1298 |
c
|
ANG074 |
Angioedema, Hereditary, 6 |
20 |
1299 |
c
|
PSR022 |
Psoriasis 15, Pustular |
20 |
1300 |
c
|
TLN010 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
20 |
1301 |
c
|
PRS081 |
Prostate Cancer, Hereditary, 9 |
20 |
1302 |
|
DST036 |
Distal Trisomy 15q |
20 |
1303 |
|
HMR016 |
Humeroradioulnar Synostosis |
20 |
1304 |
|
BMR004 |
Beemer Lethal Malformation Syndrome |
20 |
1305 |
c
|
ACQ027 |
Acquired Cutis Laxa |
20 |
1306 |
c
|
SVR103 |
Severe Congenital Neutropenia 1 |
20 |
1307 |
c
|
HYD070 |
Hydrocephalus, Congenital Communicating, 1 |
20 |
1308 |
|
CRY024 |
Crystal Arthropathies |
20 |
1309 |
|
ART109 |
Arterial Thoracic Outlet Syndrome |
20 |
1310 |
c
|
STC011 |
Stickler Syndrome, Type V |
20 |
1311 |
c
|
DMN039 |
Diamond-Blackfan Anemia 17 |
20 |
1312 |
|
BNG081 |
Benign Childhood Occipital Epilepsy, Panayiotopoulos Type |
20 |
1313 |
c
|
CMP088 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
20 |
1314 |
|
6PH001 |
6-Phosphogluconate Dehydrogenase Deficiency |
20 |
1315 |
|
EXT063 |
Extrapelvic Endometriosis |
20 |
1316 |
c
|
PRS134 |
Prostate Cancer, Hereditary, 3 |
20 |
1317 |
|
RCK009 |
Rickettsial Disease |
20 |
1318 |
|
HRP026 |
Herpetiform Pemphigus |
20 |
1319 |
|
PRG077 |
Progressive Nodular Histiocytosis |
20 |
1320 |
|
ESN012 |
Eosinophilic Cryptitis |
20 |
1321 |
c
|
ANN021 |
Anencephaly 2 |
20 |
1322 |
c
|
DMN047 |
Diamond-Blackfan Anemia 18 |
20 |
1323 |
|
PST047 |
Post-Traumatic Epilepsy |
20 |
1324 |
|
DSM006 |
Desmoplastic Infantile Ganglioglioma |
20 |
1325 |
c
|
INT492 |
Intellectual Developmental Disorder, X-Linked 2 |
20 |
1326 |
|
MYC088 |
Mycobacterium Avium Complex Infections |
20 |
1327 |
|
EPB002 |
Epiblepharon |
19 |
1328 |
|
MCR305 |
Microcephaly with Cervical Spine Fusion Anomalies |
19 |
1329 |
|
INT104 |
Intravascular Papillary Endothelial Hyperplasia |
19 |
1330 |
|
17Q009 |
17q12 Recurrent Deletion Syndrome |
19 |
1331 |
c
|
KLP006 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
19 |
1332 |
P
|
QLT041 |
Qualitative or Quantitative Defects of Alpha-Dystroglycan |
19 |
1333 |
c
|
SYS041 |
Systemic Lupus Erythematosus 9 |
19 |
1334 |
|
MLT131 |
Multifocal Atrial Tachycardia |
19 |
1335 |
c
|
ADD007 |
Adducted Thumbs, Congenital |
19 |
1336 |
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
1337 |
c
|
ATS454 |
Autosomal Trisomy |
19 |
1338 |
c
|
LTY001 |
Late Yaws |
19 |
1339 |
|
SLV018 |
Silver-Russell Syndrome Due to 11p15 Microduplication |
19 |
1340 |
|
PRM138 |
Pure Mitochondrial Myopathy |
19 |
1341 |
|
CNT088 |
Central Cloudy Dystrophy of Francois |
19 |
1342 |
c
|
PRS135 |
Prostate Cancer, Hereditary, 4 |
19 |
1343 |
|
IDP033 |
Idiopathic Edema |
19 |
1344 |
c
|
CLR147 |
Ciliary Dyskinesia, Primary, 46 |
19 |
1345 |
|
BLT023 |
Bilateral Acute Depigmentation of the Iris |
19 |
1346 |
|
CRV062 |
Cervical Spina Bifida Cystica |
19 |
1347 |
|
DSM005 |
Desmoplastic Infantile Astrocytoma |
19 |
1348 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
19 |
1349 |
|
CMP074 |
Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye |
19 |
1350 |
c
|
INT440 |
Intellectual Developmental Disorder, X-Linked 105 |
19 |
1351 |
|
PSD084 |
Pseudo-Meigs Syndrome |
19 |
1352 |
|
CHL084 |
Cholesterol Pneumonia |
19 |
1353 |
c
|
ATM115 |
Autoimmune Limbic Encephalitis |
19 |
1354 |
|
ISL154 |
Isolated Exencephaly |
19 |
1355 |
|
VLV042 |
Vulvar Vestibulitis Syndrome |
19 |
1356 |
|
IGG010 |
Igg4-Related Aortitis |
19 |
1357 |
c
|
MLG144 |
Malignant Hemangioma |
19 |
1358 |
c
|
PRM316 |
Primary Congenital Hypothyroidism |
19 |
1359 |
|
FTZ002 |
Fitz-Hugh-Curtis Syndrome |
19 |
1360 |
|
19P003 |
19p13.3 Microduplication Syndrome |
19 |
1361 |
c
|
TYS005 |
Tay-Sachs Disease, B1 Variant |
19 |
1362 |
c
|
ART175 |
Arthrogryposis, Distal, Type 11 |
19 |
1363 |
|
MCR303 |
Macrosomia with Microphthalmia, Lethal |
19 |
1364 |
c
|
CLR141 |
Ciliary Dyskinesia, Primary, 41 |
19 |
1365 |
c
|
ACT269 |
Acute Myeloid Leukemia with T(8;21); (q22; Q22.1) |
19 |
1366 |
|
BSL041 |
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant |
19 |
1367 |
|
CTS042 |
Cutis Laxa, Neonatal, with Marfanoid Phenotype |
19 |
1368 |
|
CYT017 |
Cytophagic Histiocytic Panniculitis |
19 |
1369 |
c
|
ANG076 |
Angioedema, Hereditary, 8 |
19 |
1370 |
|
PMP003 |
Pemphigus and Fogo Selvagem |
19 |
1371 |
P
|
ATS469 |
Autosomal Monosomy |
19 |
1372 |
c
|
INT433 |
Intellectual Developmental Disorder, X-Linked 101 |
19 |
1373 |
|
CXR001 |
Coxoauricular Syndrome |
19 |
1374 |
|
MTT004 |
Metatarsus Adductus |
19 |
1375 |
|
ACH040 |
Achoo Syndrome |
19 |
1376 |
P
|
WHS002 |
Whistling Face Syndrome, Recessive Form |
19 |
1377 |
|
CNG609 |
Congenital Left Ventricular Aneurysm |
19 |
1378 |
c
|
DMN050 |
Diamond-Blackfan Anemia 21 |
19 |
1379 |
c
|
ART054 |
Arthrogryposis, Distal, Type 2e |
18 |
1380 |
|
SXC007 |
Sex-Chromosome Anomaly |
18 |
1381 |
c
|
DMN048 |
Diamond-Blackfan Anemia 19 |
18 |
1382 |
|
LMB056 |
Lumbosacral Spina Bifida Cystica |
18 |
1383 |
|
LMB057 |
Lumbosacral Spina Bifida Aperta |
18 |
1384 |
c
|
CTR190 |
Cataract 49 |
18 |
1385 |
|
CRB203 |
Caribbean Parkinsonism |
18 |
1386 |
c
|
INT494 |
Intellectual Developmental Disorder, X-Linked 46 |
18 |
1387 |
|
TTR021 |
Tetrasomy 21 |
18 |
1388 |
|
MYS028 |
Myospherulosis |
18 |
1389 |
|
GLY085 |
Glycogen Storage Disease Due to Lactate Dehydrogenase Deficiency |
18 |
1390 |
|
PTY006 |
Pityriasis Lichenoides Et Varioliformis Acuta |
18 |
1391 |
|
HYD051 |
Hydrocephalus, Tall Stature, Joint Laxity, and Kyphoscoliosis |
18 |
1392 |
|
PTN011 |
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies |
18 |
1393 |
c
|
MCH012 |
Machado-Joseph Disease Type 1 |
18 |
1394 |
|
PLS037 |
Plasma Cell Tumor |
18 |
1395 |
|
PLZ007 |
Pelizaeus-Merzbacher Disease, Classic Form |
18 |
1396 |
c
|
CNG578 |
Congenital Hemangioma |
18 |
1397 |
|
3Q2006 |
3q27.3 Microdeletion Syndrome |
18 |
1398 |
P
|
CNG515 |
Congenital Zika Syndrome |
18 |
1399 |
c
|
HVP001 |
Hivep2-Related Intellectual Disability |
18 |
1400 |
|
GLC088 |
Glaucoma and Sleep Apnea |
18 |
1401 |
c
|
MTR063 |
Maternal Uniparental Disomy of Chromosome 2 |
18 |
1402 |
|
CTN031 |
Cutaneous Pseudolymphoma |
18 |
1403 |
|
ZBR001 |
Zebra Body Myopathy |
18 |
1404 |
|
LMB009 |
Lambdoid Synostosis |
18 |
1405 |
|
DST069 |
Distal Monosomy 12q |
18 |
1406 |
|
HRD208 |
Hereditary Angioedema with C1inh Deficiency |
18 |
1407 |
c
|
CLC037 |
Celiac Disease 4 |
18 |
1408 |
|
SYM011 |
Symphalangism with Multiple Anomalies of Hands and Feet |
18 |
1409 |
|
CHR257 |
Chromosome 6q Deletion |
18 |
1410 |
|
BRC096 |
Brachydactyly-Distal Symphalangism Syndrome |
18 |
1411 |
c
|
TTL009 |
Total Spina Bifida Aperta |
18 |
1412 |
|
MSC086 |
Mesocardia |
18 |
1413 |
|
NTL003 |
Notalgia Paresthetica |
18 |
1414 |
c
|
SPS248 |
Spastic Paraplegia 88, Autosomal Dominant |
18 |
1415 |
c
|
HYP311 |
Hyperparathyroidism 3 |
18 |
1416 |
|
DYS049 |
Dysplastic Cortical Hyperostosis |
18 |
1417 |
|
CHR199 |
Chromosome 15q Duplication |
18 |
1418 |
|
NND001 |
Nondystrophic Myotonia |
18 |
1419 |
|
PFF010 |
Pfeiffer-Palm-Teller Syndrome |
18 |
1420 |
|
RDC003 |
Red Cell Phospholipid Defect with Hemolysis |
18 |
1421 |
|
THR084 |
Thoracolumbosacral Spina Bifida Cystica |
18 |
1422 |
|
THR085 |
Thoracolumbosacral Spina Bifida Aperta |
18 |
1423 |
|
HRM025 |
Hermansky-Pudlak Syndrome Due to Bloc-1 Deficiency |
18 |
1424 |
c
|
SYS065 |
Systemic Lupus Erythematosus 11 |
18 |
1425 |
|
VND003 |
Van Den Bosch Syndrome |
18 |
1426 |
|
IDP041 |
Idiopathic Recurrent Pericarditis |
18 |
1427 |
|
CHR220 |
Chromosome 1p Deletion |
18 |
1428 |
|
CGH002 |
Cough Headache |
18 |
1429 |
|
GRV012 |
Grover's Disease |
18 |
1430 |
|
SYM006 |
Symmetrical Thalamic Calcifications |
18 |
1431 |
|
DYS053 |
Dystelephalangy |
18 |
1432 |
|
HHV001 |
Hhv-6 Encephalitis |
18 |
1433 |
c
|
SYS046 |
Systemic Lupus Erythematosus 3 |
18 |
1434 |
|
MLT144 |
Multiple Epiphyseal Dysplasia with Robin Phenotype |
18 |
1435 |
c
|
CLC040 |
Celiac Disease 6 |
18 |
1436 |
|
THN005 |
Thunderclap Headache |
17 |
1437 |
c
|
GNR042 |
Generalized Epilepsy with Febrile Seizures Plus, Type 8 |
17 |
1438 |
|
CNG284 |
Congenital Pseudoarthrosis of the Tibia |
17 |
1439 |
|
GRN042 |
Granulomatous Lobular Mastitis |
17 |
1440 |
c
|
TLN009 |
Telangiectasia, Hereditary Hemorrhagic, Type 3 |
17 |
1441 |
|
MSC078 |
Mosaic Trisomy 17 |
17 |
1442 |
c
|
TRN055 |
Turner Syndrome Due to Structural X Chromosome Anomalies |
17 |
1443 |
c
|
ANG075 |
Angioedema, Hereditary, 7 |
17 |
1444 |
P
|
CRY006 |
Cryofibrinogenemia |
17 |
1445 |
c
|
PLL014 |
Pellagra-Like Syndrome |
17 |
1446 |
|
MTG002 |
Mutagen Sensitivity |
17 |
1447 |
|
PRN056 |
Parana Hard-Skin Syndrome |
17 |
1448 |
c
|
SBC039 |
Subacute Cerebellar Degeneration |
17 |
1449 |
|
CLS032 |
Clostridium Perfringens Infection |
17 |
1450 |
|
LNP001 |
Loin Pain Hematuria Syndrome |
17 |
1451 |
|
ALP067 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
17 |
1452 |
|
WYR003 |
Weyers Ulnar Ray/oligodactyly Syndrome |
17 |
1453 |
|
MXL011 |
Maxillofacial Dysostosis |
17 |
1454 |
|
RMT001 |
Remitting Seronegative Symmetrical Synovitis with Pitting Edema |
17 |
1455 |
c
|
KLL005 |
Kallmann Syndrome 3 |
17 |
1456 |
|
CMP097 |
Complex Chromosomal Rearrangement |
17 |
1457 |
|
RTF001 |
Retiform Hemangioendothelioma |
17 |
1458 |
|
WND005 |
Wound Myiasis |
17 |
1459 |
|
CHS007 |
Chester Porphyria |
17 |
1460 |
c
|
SYS048 |
Systemic Lupus Erythematosus 8 |
17 |
1461 |
|
11Q001 |
11q22.2q22.3 Microdeletion Syndrome |
17 |
1462 |
|
EXT050 |
Extraneural Perineurioma |
17 |
1463 |
c
|
ACQ053 |
Acquired Neutropenia |
17 |
1464 |
c
|
INT432 |
Intellectual Developmental Disorder, X-Linked 100 |
17 |
1465 |
c
|
SYN040 |
Synpolydactyly 3 |
17 |
1466 |
c
|
MYG006 |
Myoglobinuria, Autosomal Dominant |
17 |
1467 |
c
|
SX2003 |
Six2-Related Frontonasal Dysplasia |
17 |
1468 |
|
MDL024 |
Madelung Deformity |
17 |
1469 |
|
ACT170 |
Acute Ackee Fruit Intoxication |
17 |
1470 |
|
PRP069 |
Purpura Simplex |
17 |
1471 |
|
CRN287 |
Carnitine Deficiency, Myopathic |
17 |
1472 |
|
TRP010 |
Treponema Infection |
17 |
1473 |
|
6P2001 |
6p22 Microdeletion Syndrome |
17 |
1474 |
|
LCT008 |
Lactate Dehydrogenase Deficiency |
17 |
1475 |
|
LTN011 |
Late-Onset Isolated Acth Deficiency |
17 |
1476 |
|
DST035 |
Distal Trisomy 18q |
17 |
1477 |
|
ODN005 |
Odontogenic Myxoma |
17 |
1478 |
|
HMF003 |
Hemifacial Myohyperplasia |
17 |
1479 |
|
16P005 |
16p11.2p12.2 Microduplication Syndrome |
17 |
1480 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
17 |
1481 |
c
|
SLV015 |
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 |
17 |
1482 |
c
|
KLL007 |
Kallmann Syndrome 5 |
17 |
1483 |
c
|
ANM081 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
17 |
1484 |
c
|
INT485 |
Intellectual Developmental Disorder, X-Linked 23 |
17 |
1485 |
|
CHR235 |
Chromosome 22q Deletion |
17 |
1486 |
|
INF182 |
Infection-Related Hemolytic Uremic Syndrome |
17 |
1487 |
|
DST082 |
Distal Trisomy 10q |
17 |
1488 |
|
LWF001 |
Low-Flow Priapism |
17 |
1489 |
|
MRF015 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
17 |
1490 |
|
CLL035 |
Collagen Type Iii Glomerulopathy |
17 |
1491 |
|
ETN003 |
Eating Reflex Epilepsy |
17 |
1492 |
|
ALN006 |
Alien Hand Syndrome |
17 |
1493 |
|
QLT009 |
Qualitative or Quantitative Defects of Caveolin-3 |
17 |
1494 |
|
CHR249 |
Chromosome 4q Deletion |
17 |
1495 |
|
ENC045 |
Encephalopathy, Recurrent, of Childhood |
17 |
1496 |
|
ANN014 |
Annular Lichen Planus |
17 |
1497 |
|
PRM187 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
17 |
1498 |
|
LMB071 |
Lambotte Syndrome |
17 |
1499 |
c
|
SYS053 |
Systemic Lupus Erythematosus 5 |
17 |
1500 |
|
MSP003 |
Misophonia |
17 |
1501 |
c
|
FBR077 |
Fibromatosis, Gingival, 3 |
17 |
1502 |
|
STC004 |
Stachybotrys Chartarum |
17 |
1503 |
P
|
PRM210 |
Primary Lipodystrophy |
17 |
1504 |
|
FRS011 |
First Branchial Cleft Anomaly |
17 |
1505 |
|
CLC064 |
Calcifying Aponeurotic Fibroma |
17 |
1506 |
|
ALP092 |
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan |
17 |
1507 |
|
CSK001 |
Cask-Related Disorders |
16 |
1508 |
c
|
ERL044 |
Early-Onset Posterior Polar Cataract |
16 |
1509 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
16 |
1510 |
c
|
SYS051 |
Systemic Lupus Erythematosus 4 |
16 |
1511 |
|
INT102 |
Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity |
16 |
1512 |
|
CHR183 |
Chromosome 10q Deletion |
16 |
1513 |
c
|
PRG148 |
Progressive Myoclonus Epilepsy 1a |
16 |
1514 |
c
|
CNG433 |
Congenital Cornea Plana |
16 |
1515 |
c
|
CHR688 |
Chronic Acquired Demyelinating Polyneuropathy |
16 |
1516 |
|
HLL014 |
Hallux Varus and Preaxial Polysyndactyly |
16 |
1517 |
|
CRV046 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction |
16 |
1518 |
c
|
KLP012 |
Klippel-Feil Syndrome 1 |
16 |
1519 |
|
CTN020 |
Cutaneous Sclerosis |
16 |
1520 |
|
MYX011 |
Myxozoa |
16 |
1521 |
|
IRS009 |
Iris Hypoplasia with Glaucoma |
16 |
1522 |
|
MYC016 |
Mycobacterium Gordonae |
16 |
1523 |
|
MYL074 |
Myelodysplastic Syndrome with Excess Blasts |
16 |
1524 |
|
GMB001 |
Gombo Syndrome |
16 |
1525 |
|
TRP027 |
Triphalangeal Thumb, Nonopposable |
16 |
1526 |
|
DRM038 |
Dermotrichic Syndrome |
16 |
1527 |
c
|
CLC039 |
Celiac Disease 13 |
16 |
1528 |
|
EPL161 |
Epilepsy, Reading |
16 |
1529 |
|
CHR264 |
Chromosome 8p Deletion |
16 |
1530 |
|
DSP003 |
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions |
16 |
1531 |
|
ALD006 |
Aldred Syndrome |
16 |
1532 |
|
PSD026 |
Pseudoainhum |
16 |
1533 |
|
HSH001 |
Hashimoto-Pritzker Syndrome |
16 |
1534 |
|
LTH004 |
Lathyrism |
16 |
1535 |
|
RDT014 |
Radiation Myelitis |
16 |
1536 |
c
|
TRN047 |
Transient Congenital Hypothyroidism |
16 |
1537 |
|
LKT001 |
Leukotriene C4 Synthase Deficiency |
16 |
1538 |
c
|
CLC045 |
Celiac Disease 2 |
16 |
1539 |
|
PLR025 |
Pleuroparenchymal Fibroelastosis |
16 |
1540 |
|
PSD079 |
Pseudoangiomatous Stromal Hyperplasia |
16 |
1541 |
c
|
INF119 |
Infantile Mercury Poisoning |
16 |
1542 |
|
CHR250 |
Chromosome 4q Duplication |
16 |
1543 |
|
VRB002 |
Variably Protease-Sensitive Prionopathy |
16 |
1544 |
|
ITR003 |
Iatrogenic Creutzfeldt-Jakob Disease |
16 |
1545 |
|
MCR340 |
Microcephaly, Corpus Callosum Dysgenesis, and Cleft Lip/palate |
16 |
1546 |
c
|
FCL065 |
Facial Palsy, Familial Recurrent Peripheral |
16 |
1547 |
|
FXG002 |
Foxg1 Syndrome Due to 14q12 Microdeletion |
16 |
1548 |
|
BLD072 |
Bleeding Disorder, East Texas Type |
16 |
1549 |
c
|
ATS177 |
Autism X-Linked 5 |
16 |
1550 |
|
INT302 |
Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth |
16 |
1551 |
c
|
LTN017 |
Late-Infantile/juvenile Krabbe Disease |
16 |
1552 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
16 |
1553 |
c
|
INT490 |
Intellectual Developmental Disorder, X-Linked 73 |
16 |
1554 |
|
OVR110 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
16 |
1555 |
c
|
SYS055 |
Systemic Lupus Erythematosus 12 |
16 |
1556 |
|
SPN346 |
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability |
16 |
1557 |
c
|
ALP036 |
Alopecia, Androgenetic, 2 |
16 |
1558 |
|
ATS285 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
16 |
1559 |
|
CRN324 |
Corneal Endotheliitis |
16 |
1560 |
|
RDT004 |
Radiation Induced Brachial Plexopathy |
16 |
1561 |
|
MTT008 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
16 |
1562 |
|
ESP040 |
Esophageal Duplication Cyst |
16 |
1563 |
|
FBR091 |
Fibroblastic Rheumatism |
16 |
1564 |
c
|
SVR105 |
Severe Congenital Neutropenia 2 |
16 |
1565 |
|
CHR556 |
Chromosome 3q Duplication |
16 |
1566 |
c
|
LMN017 |
Lmnb1-Related Autosomal Dominant Leukodystrophy |
16 |
1567 |
|
DBL009 |
Double Inferior Vena Cava |
16 |
1568 |
|
CHR239 |
Chromosome 2q Deletion |
16 |
1569 |
|
ATS112 |
Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity |
16 |
1570 |
|
PRX095 |
Proximal Myopathy with Focal Depletion of Mitochondria |
16 |
1571 |
|
ASR001 |
Asrar Facharzt Haque Syndrome |
15 |
1572 |
|
GRN021 |
Granulomatous Rosacea |
15 |
1573 |
|
ANL019 |
Anal Sphincter Dysplasia |
15 |
1574 |
|
PST104 |
Postaxial Oligodactyly, Tetramelic |
15 |
1575 |
|
TRG017 |
Trigeminal Trophic Syndrome |
15 |
1576 |
c
|
MTC199 |
Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis |
15 |
1577 |
|
CHR261 |
Chromosome 7p Duplication |
15 |
1578 |
|
DFN014 |
Deafness Nephritis Anorectal Malformation |
15 |
1579 |
|
9Q2003 |
9q21.13 Microdeletion Syndrome |
15 |
1580 |
|
PST037 |
Pasteurella Multocida Infection |
15 |
1581 |
c
|
PRM369 |
Primary Acquired Pure Red Cell Aplasia |
15 |
1582 |
|
CHR198 |
Chromosome 15q Deletion |
15 |
1583 |
|
HPS001 |
Hip Subluxation |
15 |
1584 |
|
DGT004 |
Digitalis Poisoning |
15 |
1585 |
|
IDP023 |
Idiopathic Subglottic Tracheal Stenosis |
15 |
1586 |
|
CHR214 |
Chromosome 18q Duplication |
15 |
1587 |
c
|
PST110 |
Posterior Corneal Dystrophy |
15 |
1588 |
|
MCD003 |
Mcdowall Syndrome |
15 |
1589 |
|
KSZ002 |
Kosztolanyi Syndrome |
15 |
1590 |
|
KCN010 |
Kcnq2-Related Disorders |
15 |
1591 |
|
CNG288 |
Congenital Absence of Upper Arm and Forearm with Hand Present |
15 |
1592 |
|
CLF033 |
Cleft Mitral Valve |
15 |
1593 |
c
|
HYP551 |
Hypotrichosis 9 |
15 |
1594 |
|
CHR181 |
Chromosome 10p Deletion |
15 |
1595 |
c
|
INT487 |
Intellectual Developmental Disorder, X-Linked 14 |
15 |
1596 |
c
|
INT499 |
Intellectual Developmental Disorder, X-Linked 95 |
15 |
1597 |
|
CHR238 |
Chromosome 2p Duplication |
15 |
1598 |
|
BSL013 |
Basaloid Follicular Hamartoma |
15 |
1599 |
c
|
RRD018 |
Rare Disease with Pierre Robin Syndrome |
15 |
1600 |
|
HYP468 |
Hyperkeratosis-Hyperpigmentation Syndrome |
15 |
1601 |
c
|
HRN019 |
Hair-an Syndrome |
15 |
1602 |
|
MYC018 |
Mycobacterium Malmoense |
15 |
1603 |
c
|
HYP544 |
Hypotrichosis 10 |
15 |
1604 |
|
GSB001 |
Gas Bloat Syndrome |
15 |
1605 |
|
CHR195 |
Chromosome 14q Deletion |
15 |
1606 |
|
OLG014 |
Oligocone Trichromacy |
15 |
1607 |
c
|
INT495 |
Intellectual Developmental Disorder, X-Linked 77 |
15 |
1608 |
|
ISL072 |
Isolated Levocardia |
15 |
1609 |
|
FTL024 |
Fetal Minoxidil Syndrome |
15 |
1610 |
|
CHR258 |
Chromosome 6q Duplication |
15 |
1611 |
|
PRT165 |
Partial Deletion of the Short Arm of Chromosome 7 |
15 |
1612 |
|
BTT012 |
Battaglia-Neri Syndrome |
15 |
1613 |
|
PRS132 |
Parasomnia, Sleep Bruxism Type |
15 |
1614 |
|
CRT056 |
Carotidynia |
15 |
1615 |
c
|
DYS194 |
Dysautonomia-Like Disorder |
15 |
1616 |
|
LGR001 |
Laugier-Hunziker Syndrome |
15 |
1617 |
|
CHR256 |
Chromosome 6p Duplication |
15 |
1618 |
|
ANG034 |
Angiosarcoma of the Scalp |
15 |
1619 |
|
INF184 |
Infective Keratitis |
15 |
1620 |
|
KLN003 |
Kaolin Pneumoconiosis |
15 |
1621 |
|
SMC003 |
Semicircular Canal Dehiscence Syndrome |
15 |
1622 |
c
|
SYS052 |
Systemic Lupus Erythematosus 13 |
15 |
1623 |
c
|
TBB006 |
Tubb4a-Related Leukodystrophy |
15 |
1624 |
c
|
TMT004 |
Timothy Syndrome Type 1 |
15 |
1625 |
|
PRM153 |
Primary Progressive Apraxia of Speech |
15 |
1626 |
|
ACR027 |
Acrodysplasia Scoliosis |
15 |
1627 |
|
CTT001 |
Catatrichy |
15 |
1628 |
|
PDT046 |
Pediatric-Onset Graves Disease |
15 |
1629 |
|
KNS003 |
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis |
15 |
1630 |
c
|
JVN045 |
Juvenile Ossifying Fibroma |
15 |
1631 |
|
BNG042 |
Benign Multicystic Peritoneal Mesothelioma |
15 |
1632 |
|
MRG007 |
Morgellons |
15 |
1633 |
c
|
CLS053 |
Cluster Headache, Familial |
15 |
1634 |
|
ALC030 |
Alect2 Amyloidosis |
15 |
1635 |
|
CNG097 |
Congenital Giant Megaureter |
15 |
1636 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
15 |
1637 |
|
ARC024 |
Aurocephalosyndactyly |
15 |
1638 |
|
VCT002 |
Vacterl Association with Hydrocephaly, X-Linked |
15 |
1639 |
c
|
CLC038 |
Celiac Disease 10 |
15 |
1640 |
|
BNT006 |
Bain Type of X-Linked Syndromic Intellectual Disability |
15 |
1641 |
|
BDR001 |
Bidirectional Tachycardia |
15 |
1642 |
|
CNG120 |
Congenital Pseudoarthrosis |
15 |
1643 |
|
SPN357 |
Spondyloepimetaphyseal Dysplasia, Micromelic |
15 |
1644 |
c
|
KLP015 |
Klippel-Feil Syndrome 4 |
15 |
1645 |
c
|
PRS074 |
Prostate Cancer, Hereditary, 10 |
15 |
1646 |
c
|
KLL008 |
Kallmann Syndrome 6 |
15 |
1647 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
15 |
1648 |
|
CHR223 |
Chromosome 1q Deletion |
15 |
1649 |
P
|
PYR006 |
Pyridoxine-Responsive Sideroblastic Anemia |
14 |
1650 |
|
AML037 |
Amelia of Upper Limb |
14 |
1651 |
|
NSP010 |
Nasopharyngeal Teratoma |
14 |
1652 |
|
CHR240 |
Chromosome 2q Duplication |
14 |
1653 |
|
VBR003 |
Vibrio Vulnificus Infection |
14 |
1654 |
c
|
INT489 |
Intellectual Developmental Disorder, X-Linked 53 |
14 |
1655 |
|
LMY012 |
Leiomyosarcoma of the Cervix Uteri |
14 |
1656 |
|
FRT004 |
Fourth Branchial Cleft Anomaly |
14 |
1657 |
|
CHR196 |
Chromosome 14q Duplication |
14 |
1658 |
c
|
ATS403 |
Autosomal Dominant Intellectual Disability 40 |
14 |
1659 |
|
MDM005 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
14 |
1660 |
|
CRN307 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
14 |
1661 |
|
AML008 |
Amelogenesis Imperfecta Local Hypoplastic |
14 |
1662 |
|
MYL019 |
Myeloid Splenomegaly |
14 |
1663 |
|
CHR254 |
Chromosome 5q Duplication |
14 |
1664 |
P
|
NNN030 |
Non-Infectious Anterior Uveitis |
14 |
1665 |
|
HYP663 |
Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
14 |
1666 |
|
MSC084 |
Mosaic Genome-Wide Paternal Uniparental Disomy |
14 |
1667 |
|
RCT024 |
Reactive Angioendotheliomatosis |
14 |
1668 |
|
JXT004 |
Juxtaposition of the Atrial Appendages |
14 |
1669 |
|
PRG036 |
Progressive Transformation of Germinal Centers |
14 |
1670 |
|
11P002 |
11p15.4 Microduplication Syndrome |
14 |
1671 |
|
ISC019 |
Ischiovertebral Syndrome |
14 |
1672 |
|
TRM021 |
Tremor, Nystagmus, and Duodenal Ulcer |
14 |
1673 |
|
CLM004 |
Climatic Droplet Keratopathy |
14 |
1674 |
|
GLM046 |
Glomus Vagale Tumor |
14 |
1675 |
|
PPL044 |
Papular Elastorrhexis |
14 |
1676 |
|
CHR244 |
Chromosome 3p Duplication |
14 |
1677 |
|
CHR194 |
Chromosome 13q Duplication |
14 |
1678 |
c
|
ACQ036 |
Acquired Angioedema Type 2 |
14 |
1679 |
|
WRM002 |
Warman Mulliken Hayward Syndrome |
14 |
1680 |
|
CHR263 |
Chromosome 7q Duplication |
14 |
1681 |
|
BRC089 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
14 |
1682 |
|
SBM006 |
Submucosal Cleft Palate |
14 |
1683 |
P
|
TRS005 |
Torsion Dystonia with Onset in Infancy |
14 |
1684 |
|
SCL050 |
Scoliosis, Arachnodactyly, and Blindness |
14 |
1685 |
|
CHR274 |
Chromosome Xq Duplication |
14 |
1686 |
|
DST052 |
Distal 7q11.23 Microduplication Syndrome |
14 |
1687 |
|
TRC061 |
Trichostasis Spinulosa |
14 |
1688 |
|
PCH017 |
Pachygyria-Intellectual Disability-Epilepsy Syndrome |
14 |
1689 |
|
CHR207 |
Chromosome 16q Duplication |
14 |
1690 |
c
|
ATS448 |
Autosomal Recessive Brachyolmia |
14 |
1691 |
c
|
MCR284 |
Microcephaly and Chorioretinopathy 3 |
14 |
1692 |
|
LTR017 |
Lateral Facial Cleft |
14 |
1693 |
c
|
GLL043 |
Galloway-Mowat Syndrome 2 |
14 |
1694 |
|
ACR022 |
Acardia |
14 |
1695 |
c
|
CLC009 |
Clcn7-Related Osteopetrosis |
14 |
1696 |
|
ICH018 |
Ichthyosis Linearis Circumflexa |
14 |
1697 |
|
GRN020 |
Granulomatous Hypophysitis |
14 |
1698 |
|
MTR084 |
Maternal Hyperthermia-Induced Birth Defects |
14 |
1699 |
|
CRN039 |
Carnitine Acetyltransferase Deficiency |
14 |
1700 |
c
|
SYS047 |
Systemic Lupus Erythematosus 7 |
14 |
1701 |
P
|
LRY049 |
Laryngotracheoesophageal Cleft Type 4 |
14 |
1702 |
c
|
GLC052 |
Glaucoma 3, Primary Congenital, C |
14 |
1703 |
|
ATL006 |
Atlanto-Axial Fusion |
14 |
1704 |
|
14Q003 |
14q11.2 Microduplication Syndrome |
14 |
1705 |
|
NND004 |
Non-Distal Monosomy 10q |
14 |
1706 |
|
CLR130 |
Ciliary Dyskinesia with Defective Radial Spokes |
14 |
1707 |
|
INT093 |
Interferon Gamma, Receptor 1, Deficiency |
14 |
1708 |
|
MDR001 |
Medeira-Dennis-Donnai Syndrome |
14 |
1709 |
|
HML018 |
Homologous Wasting Disease |
14 |
1710 |
|
MCL020 |
Macules Hereditary Congenital Hypopigmented and Hyperpigmented |
14 |
1711 |
|
ANN018 |
Anonychia, Total, with Microcephaly |
14 |
1712 |
|
MSM003 |
Mesomelia |
14 |
1713 |
|
EXT060 |
Extragonadal Teratoma |
14 |
1714 |
c
|
CLC043 |
Celiac Disease 11 |
14 |
1715 |
c
|
CLC047 |
Celiac Disease 8 |
14 |
1716 |
c
|
CLC044 |
Celiac Disease 12 |
14 |
1717 |
|
DPL003 |
Diploid-Triploid Mosaicism |
14 |
1718 |
|
THS001 |
Thai Symphalangism Syndrome |
14 |
1719 |
|
EXG001 |
Exogenous Ochronosis |
14 |
1720 |
c
|
CNG263 |
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs |
14 |
1721 |
c
|
INT497 |
Intellectual Developmental Disorder, X-Linked 84 |
14 |
1722 |
c
|
MTR057 |
Maternal Uniparental Disomy of Chromosome X |
14 |
1723 |
|
TLN004 |
Talonavicular Coalition |
14 |
1724 |
c
|
INT486 |
Intellectual Developmental Disorder, X-Linked 20 |
14 |
1725 |
c
|
PRG147 |
Progressive Myoclonus Epilepsy 8 |
14 |
1726 |
|
SKD001 |
Sakoda Complex |
14 |
1727 |
|
TRP023 |
Triphalangeal Thumbs and Dislocation of Patella |
14 |
1728 |
c
|
ATS154 |
Autosomal Recessive Complex Spastic Paraplegia |
14 |
1729 |
c
|
CNG534 |
Congenital Cerebellar Ataxia Due to Rnu12 Mutation |
14 |
1730 |
|
LFT005 |
Left-Sided Gallbladder |
14 |
1731 |
c
|
PRK095 |
Porokeratosis 4, Disseminated Superficial Actinic Type |
14 |
1732 |
|
CLS034 |
Clostridium Septicum Infection |
14 |
1733 |
|
MYS071 |
Myasthenia, Limb-Girdle, Autoimmune |
14 |
1734 |
c
|
CLC042 |
Celiac Disease 9 |
14 |
1735 |
|
PLZ008 |
Pelizaeus-Merzbacher Disease, Transitional Form |
14 |
1736 |
|
FNG014 |
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature |
14 |
1737 |
|
CHR192 |
Chromosome 12q Duplication |
14 |
1738 |
|
CYS023 |
Cystic Medial Necrosis of Aorta |
14 |
1739 |
|
DXT003 |
Dextrocardia with Unusual Facies and Microphthalmia |
14 |
1740 |
|
CNG053 |
Congenital Amputation |
14 |
1741 |
|
RHZ006 |
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa |
14 |
1742 |
|
SYM015 |
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers |
14 |
1743 |
|
ART130 |
Arthrogryposis with Hyperkeratosis |
14 |
1744 |
P
|
CLD018 |
Cleidocranial Dysplasia, Recessive Form |
14 |
1745 |
c
|
PRG144 |
Progressive Myoclonus Epilepsy 1b |
14 |
1746 |
|
JCK003 |
Jackhammer Esophagus |
14 |
1747 |
|
ART129 |
Arterial Dissection with Lentiginosis |
14 |
1748 |
|
ATT023 |
Attenuated Chediak-Higashi Syndrome |
14 |
1749 |
|
RCS010 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
13 |
1750 |
|
HRR003 |
Herrmann Opitz Craniosynostosis |
13 |
1751 |
|
EXR004 |
Exertional Headache |
13 |
1752 |
|
SPN464 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
13 |
1753 |
|
FRM006 |
Formaldehyde Poisoning |
13 |
1754 |
c
|
ELN001 |
Elane-Related Neutropenia |
13 |
1755 |
c
|
ATS432 |
Autosomal Dominant Distal Myopathy |
13 |
1756 |
|
IDP040 |
Idiopathic Eosinophilic Myositis |
13 |
1757 |
|
FGS003 |
Fg Syndrome 3 |
13 |
1758 |
c
|
JVN047 |
Juvenile Spondyloarthropathy |
13 |
1759 |
|
TMP006 |
Temporomandibular Ankylosis |
13 |
1760 |
|
EPS038 |
Episodic Angioedema with Eosinophilia |
13 |
1761 |
c
|
HPT084 |
Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection |
13 |
1762 |
|
CHR170 |
Choroid Plexus Cyst |
13 |
1763 |
|
INH017 |
Inherited Congenital Spastic Tetraplegia |
13 |
1764 |
|
CNG587 |
Congenital Limb Malformation |
13 |
1765 |
|
SPR072 |
Superficial Pemphigus |
13 |
1766 |
|
PLB003 |
Pili Bifurcati |
13 |
1767 |
c
|
CTR176 |
Cataract, Age-Related Nuclear |
13 |
1768 |
|
CHR233 |
Chromosome 21q Deletion |
13 |
1769 |
c
|
MCR185 |
Macrodactyly of Toes |
13 |
1770 |
c
|
NNP008 |
Nanophthalmos 3 |
13 |
1771 |
|
RDT017 |
Radiation-Induced Disorder |
13 |
1772 |
|
CHR210 |
Chromosome 17q Duplication |
13 |
1773 |
|
ZLL010 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
13 |
1774 |
c
|
ATS360 |
Autosomal Recessive Intellectual Disability 58 |
13 |
1775 |
|
BWH001 |
Bow Hunter's Stroke |
13 |
1776 |
|
MSC090 |
Mosaic Trisomy 3 |
13 |
1777 |
c
|
PRS079 |
Prostate Cancer, Hereditary, 5 |
13 |
1778 |
c
|
KLL006 |
Kallmann Syndrome 4 |
13 |
1779 |
|
CRC033 |
Circumscribed Palmoplantar Hypokeratosis |
13 |
1780 |
c
|
DPD002 |
Depdc5-Related Epilepsy |
13 |
1781 |
c
|
PRK097 |
Porokeratosis 5, Disseminated Superficial Actinic Type |
13 |
1782 |
c
|
CLC041 |
Celiac Disease 7 |
13 |
1783 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
13 |
1784 |
|
CHR267 |
Chromosome 8q Deletion |
13 |
1785 |
|
CHR260 |
Chromosome 7p Deletion |
13 |
1786 |
|
TGV001 |
Togaviridae Disease |
13 |
1787 |
|
RDR002 |
Rodrigues Blindness |
13 |
1788 |
|
GLM036 |
Gliomatosis Peritonei |
13 |
1789 |
|
PRT184 |
Partial Deletion of the Long Arm of Chromosome 11 |
13 |
1790 |
|
XLN144 |
X-Linked Intellectual Disability, Seemanova Type |
13 |
1791 |
c
|
INT493 |
Intellectual Developmental Disorder, X-Linked 81 |
13 |
1792 |
|
PRT087 |
Parietal Encephalocele |
13 |
1793 |
c
|
SYS045 |
Systemic Lupus Erythematosus 14 |
13 |
1794 |
|
THR034 |
Thoracopelvic Dysostosis |
13 |
1795 |
|
SPR145 |
Superficial Fibromatosis |
13 |
1796 |
|
CNG282 |
Congenital Knee Dislocation |
13 |
1797 |
|
MCR060 |
Microcephaly with Spastic Quadriplegia |
13 |
1798 |
c
|
PRS076 |
Prostate Cancer, Hereditary, 15 |
13 |
1799 |
|
SLN002 |
Selenium Poisoning |
13 |
1800 |
|
GLT042 |
Glutathione Synthetase Deficiency of Erythrocytes |
13 |
1801 |
|
APD003 |
Apodia |
13 |
1802 |
|
ATY027 |
Atypical Lichen Myxedematosus |
13 |
1803 |
|
IDP038 |
Idiopathic Acute Transverse Myelitis |
13 |
1804 |
c
|
TMT005 |
Timothy Syndrome Type 2 |
13 |
1805 |
|
LYS028 |
Lysosomal Glycogen Storage Disease |
13 |
1806 |
|
ACQ073 |
Acquired Factor X Deficiency |
13 |
1807 |
|
CHR218 |
Chromosome 19q Duplication |
13 |
1808 |
c
|
INT382 |
Intermediate Atrioventricular Septal Defect |
12 |
1809 |
|
PRT180 |
Partial Deletion of the Long Arm of Chromosome 7 |
12 |
1810 |
c
|
ACT254 |
Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2) |
12 |
1811 |
|
ICH025 |
Ichthyosis, Follicular |
12 |
1812 |
|
TRT022 |
True Thymic Hyperplasia |
12 |
1813 |
|
SPR080 |
Spirillary Rat-Bite Fever |
12 |
1814 |
c
|
CNG253 |
Congenital Communicating Hydrocephalus |
12 |
1815 |
|
PRT237 |
Partial Deletion of the Long Arm of Chromosome 16 |
12 |
1816 |
|
INF059 |
Infundibulopelvic Dysgenesis |
12 |
1817 |
|
STN013 |
Stenotrophomonas Maltophilia Infection |
12 |
1818 |
|
EXS022 |
Exostosis, Dupuytren Subungual |
12 |
1819 |
|
RKT003 |
Rokitansky-Aschoff Sinuses of the Gallbladder |
12 |
1820 |
|
CRP029 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
12 |
1821 |
|
PRT169 |
Partial Deletion of the Short Arm of Chromosome 11 |
12 |
1822 |
|
HLP030 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
12 |
1823 |
|
ACQ077 |
Acquired Factor Vii Deficiency |
12 |
1824 |
|
MTC196 |
Mitochondrial Disease with Epilepsy |
12 |
1825 |
|
PRC041 |
Pericardial and Diaphragmatic Defect |
12 |
1826 |
|
SYN120 |
Syndromic Oculocutaneous Albinism |
12 |
1827 |
|
PTT038 |
Pituitary Deficiency Due to Empty Sella Turcica Syndrome |
12 |
1828 |
|
MLH001 |
Melhem Fahl Syndrome |
12 |
1829 |
|
ONY002 |
Onychotrichodysplasia and Neutropenia |
12 |
1830 |
|
LWR014 |
Lower Limb Hypertrophy |
12 |
1831 |
P
|
RRN003 |
Rare Non-Syndromic Intellectual Disability |
12 |
1832 |
|
CYS035 |
Cystic Adventitial Disease |
12 |
1833 |
c
|
PRS075 |
Prostate Cancer, Hereditary, 14 |
12 |
1834 |
c
|
KLH005 |
Klhl9-Related Early-Onset Distal Myopathy |
12 |
1835 |
c
|
SPR097 |
Sporadic Hyperekplexia |
12 |
1836 |
|
VRL018 |
Virilizing Ovarian Tumor |
12 |
1837 |
|
XLN156 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
12 |
1838 |
|
INF134 |
Infective Myositis |
12 |
1839 |
|
PRL020 |
Paralysis Agitans, Juvenile, of Hunt |
12 |
1840 |
|
DST089 |
Distal Trisomy 3p |
12 |
1841 |
|
LMY006 |
Leiomyoma of Vulva and Esophagus |
12 |
1842 |
|
ORB016 |
Orbital Varix |
12 |
1843 |
c
|
QLT013 |
Qualitative or Quantitative Defects of Beta-Sarcoglycan |
12 |
1844 |
|
CND035 |
Cone Dystrophy, X-Linked, with Tapetal-Like Sheen |
12 |
1845 |
c
|
TRS033 |
Trisomy 18-Like Syndrome |
12 |
1846 |
c
|
PRM188 |
Primary Cutis Verticis Gyrata |
12 |
1847 |
|
DRT002 |
Duarte Variant Galactosemia |
12 |
1848 |
|
ANK018 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
12 |
1849 |
|
DFC001 |
Defective Apolipoprotein B-100 |
12 |
1850 |
|
DTR002 |
Dieterich's Disease |
12 |
1851 |
|
PLN009 |
Palant Cleft Palate Syndrome |
12 |
1852 |
|
PRT186 |
Partial Duplication of the Long Arm of Chromosome X |
12 |
1853 |
|
DBS003 |
Dibasic Amino Aciduria I |
12 |
1854 |
|
INT227 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
12 |
1855 |
|
SCN063 |
Scn2a Related Disorders |
12 |
1856 |
|
SYM005 |
Symmastia |
12 |
1857 |
P
|
IDP090 |
Idiopathic Eosinophilic Pneumonia |
12 |
1858 |
|
NYS007 |
Nystagmus, Hereditary Vertical |
12 |
1859 |
|
CHR203 |
Chromosome 16p Duplication |
12 |
1860 |
|
MDL007 |
Medial Medullary Syndrome |
12 |
1861 |
c
|
HML041 |
Hemolytic Anemia Due to Erythrocyte Adenosine Deaminase Overproduction |
12 |
1862 |
|
CMP085 |
Camptomelic Syndrome, Long-Limb Type |
12 |
1863 |
|
FTZ003 |
Fitzsimmons Syndrome |
12 |
1864 |
|
MLT168 |
Multicore Disease |
12 |
1865 |
c
|
BCK012 |
Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 |
12 |
1866 |
|
TRY006 |
Tryptophanuria with Dwarfism |
12 |
1867 |
c
|
RTN201 |
Retinoschisis, Autosomal Dominant |
12 |
1868 |
|
ANG033 |
Angiomyomatous Hamartoma |
12 |
1869 |
|
CHR228 |
Chromosome 20p Deletion |
12 |
1870 |
|
GLM017 |
Glomus Tympanicum Tumor |
12 |
1871 |
|
CTR005 |
Cataract and Congenital Ichthyosis |
12 |
1872 |
|
CRB080 |
Cor Biloculare |
12 |
1873 |
|
PRR018 |
Preauricular Sinus |
12 |
1874 |
|
CMP031 |
Complement Component Deficiency |
12 |
1875 |
|
DSM014 |
Desmoplastic Infantile Astrocytoma/ganglioglioma |
12 |
1876 |
|
RHB007 |
Rhabdomyomatous Mesenchymal Hamartoma |
12 |
1877 |
|
GND015 |
Gonadal Germ Cell Tumor |
12 |
1878 |
|
KST002 |
Kuster Syndrome |
12 |
1879 |
|
SPN082 |
Spina Bifida Hypospadias |
12 |
1880 |
|
EXT061 |
Extracardiac Rhabdomyoma |
12 |
1881 |
c
|
SCN055 |
Secondary Polyarteritis Nodosa |
12 |
1882 |
|
MDP001 |
Midphalangeal Hair |
12 |
1883 |
|
CLR026 |
Ciliary Dyskinesia with Excessively Long Cilia |
12 |
1884 |
P
|
ISL045 |
Isolated Focal Cortical Dysplasia Type I |
12 |
1885 |
|
PTT069 |
Pituitary Deficiency Due to Rathke Cleft Cysts |
12 |
1886 |
|
CMP062 |
Complication After Organ Transplantation |
12 |
1887 |
|
DSC010 |
Discrete Papular Lichen Myxedematosus |
11 |
1888 |
c
|
INF052 |
Infantile Scoliosis |
11 |
1889 |
c
|
MTR067 |
Maternal Uniparental Disomy of Chromosome 16 |
11 |
1890 |
|
PST112 |
Post-Traumatic Pituitary Deficiency |
11 |
1891 |
|
PRP068 |
Propriospinal Myoclonus |
11 |
1892 |
|
ISL056 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
11 |
1893 |
c
|
SYS067 |
Systemic Lupus Erythematosus 15 |
11 |
1894 |
|
LCT018 |
Lactobezoar |
11 |
1895 |
|
PSD083 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
11 |
1896 |
|
NTR048 |
Neutropenia, Lethal Congenital, with Eosinophilia |
11 |
1897 |
|
TRR003 |
Terrien Marginal Degeneration |
11 |
1898 |
|
GNT037 |
Genetic Hyperferritinemia Without Iron Overload |
11 |
1899 |
|
ACQ072 |
Acquired Factor V Deficiency |
11 |
1900 |
|
CNG092 |
Congenital Extrahepatic Portosystemic Shunt |
11 |
1901 |
|
ACQ011 |
Acquired Agranulocytosis |
11 |
1902 |
|
DYS176 |
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome |
11 |
1903 |
|
CNG563 |
Congenital Myopathy with Cores |
11 |
1904 |
|
DST085 |
Distal Trisomy 2q |
11 |
1905 |
|
SVR086 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
11 |
1906 |
c
|
STX006 |
Stxbp1-Related Encephalopathy |
11 |
1907 |
|
UNL012 |
Unilateral Hemispheric Polymicrogyria |
11 |
1908 |
|
PRT200 |
Partial Duplication of the Long Arm of Chromosome 2 |
11 |
1909 |
|
XLN179 |
X-Linked Intellectual Disability, Turner Type |
11 |
1910 |
c
|
HMR041 |
Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation |
11 |
1911 |
|
CHR458 |
Chromosome 9 Inversion |
11 |
1912 |
c
|
CHR161 |
Chiari Malformation Type 3 |
11 |
1913 |
c
|
IDP048 |
Idiopathic Posterior Uveitis |
11 |
1914 |
|
ACR121 |
Acromelic Dysplasia |
11 |
1915 |
c
|
UNP004 |
Uniparental Disomy of Chromosome 2 |
11 |
1916 |
c
|
KLP013 |
Klippel-Feil Syndrome 3 |
11 |
1917 |
|
TRY005 |
Trypanosomiasis, Human West-African |
11 |
1918 |
|
RFR006 |
Refractory Cytopenia with Unilineage Dysplasia |
11 |
1919 |
c
|
PSD024 |
Pseudo Pelger-Huet Anomaly |
11 |
1920 |
|
DST057 |
Distal Trisomy 19q |
11 |
1921 |
|
XLN170 |
X-Linked Mendelian Susceptibility to Mycobacterial Diseases |
11 |
1922 |
|
DST076 |
Distal Trisomy 13q |
11 |
1923 |
|
CNG327 |
Congenital Epstein-Barr Virus Infection |
11 |
1924 |
|
PLC012 |
Pleoconial Myopathy with Salt Craving |
11 |
1925 |
c
|
DDN013 |
Duodenal Ulcer Due to Antral G-Cell Hyperfunction |
11 |
1926 |
|
ACR089 |
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia |
11 |
1927 |
|
CNG278 |
Congenital Pseudoarthrosis of the Radius |
11 |
1928 |
|
PRT106 |
Partial Duplication of the Short Arm of Chromosome X |
11 |
1929 |
|
MLL006 |
Mollaret Meningitis |
11 |
1930 |
|
DPH028 |
Diaphragmatic Flutter |
11 |
1931 |
|
TBC002 |
Tbc1d24-Related Disorders |
11 |
1932 |
|
MSN011 |
Mesangioproliferative Glomerulopathy |
11 |
1933 |
c
|
PTR019 |
Paternal Uniparental Disomy of Chromosome 5 |
11 |
1934 |
|
INC014 |
Incessant Infant Ventricular Tachycardia |
11 |
1935 |
|
CHT001 |
Chaotic Atrial Tachycardia |
11 |
1936 |
|
SLF008 |
Self-Healing Papular Mucinosis |
11 |
1937 |
|
HFT001 |
Hooft Disease |
11 |
1938 |
|
PTT019 |
Pituitary Dwarfism with Large Sella Turcica |
11 |
1939 |
|
HMR042 |
Humero-Ulnar Synostosis |
11 |
1940 |
|
WHT012 |
White Fibrous Papulosis of the Neck |
11 |
1941 |
|
ANN019 |
Anonychia-Ectrodactyly |
11 |
1942 |
|
INT248 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
11 |
1943 |
|
PRT166 |
Partial Deletion of the Short Arm of Chromosome 10 |
11 |
1944 |
|
SCR023 |
Sacral Plexopathy |
11 |
1945 |
|
MRN008 |
Marin-Amat Syndrome |
11 |
1946 |
|
HYP176 |
Hypertelorism and Tetralogy of Fallot |
11 |
1947 |
|
YSH001 |
Yusho Disease |
11 |
1948 |
|
IRF001 |
Irf6-Related Disorders |
10 |
1949 |
|
MLT158 |
Multiple Exostoses with Spastic Tetraparesis |
10 |
1950 |
c
|
PRM185 |
Primary Essential Cutis Verticis Gyrata |
10 |
1951 |
|
LPC004 |
Lipoic Acid Biosynthesis Defects |
10 |
1952 |
|
TRD004 |
Taurodontism, Microdontia, and Dens Invaginatus |
10 |
1953 |
c
|
SSC054 |
Susceptibility to Localized Juvenile Periodontitis |
10 |
1954 |
|
DBL015 |
Double Outlet Right Atrium |
10 |
1955 |
|
IDP056 |
Idiopathic Neonatal Atrial Flutter |
10 |
1956 |
|
NNT045 |
Neonatal Autoimmune Hemolytic Anemia |
10 |
1957 |
|
HYP584 |
Hypotrichosis-Intellectual Disability, Lopes Type |
10 |
1958 |
|
MSC015 |
Mosaic Trisomy 13 |
10 |
1959 |
|
CNG283 |
Congenital Pseudoarthrosis of the Femur |
10 |
1960 |
c
|
NYS019 |
Nystagmus, Congenital, Autosomal Recessive |
10 |
1961 |
|
AST008 |
Asternia |
10 |
1962 |
c
|
ADL083 |
Adult-Onset Citrullinemia Type I |
10 |
1963 |
c
|
UNP007 |
Uniparental Disomy of Chromosome 6 |
10 |
1964 |
|
TMR022 |
Tumor of Meninges |
10 |
1965 |
|
ISL065 |
Isolated Congenital Alacrima |
10 |
1966 |
c
|
FGF015 |
Fgfr1-Related Hartsfield Syndrome |
10 |
1967 |
c
|
ZYG005 |
Zygodactyly Type 4 |
10 |
1968 |
|
PRT202 |
Partial Duplication of the Long Arm of Chromosome 6 |
10 |
1969 |
|
MCR055 |
Microcephaly Nonsyndromal |
10 |
1970 |
|
NLL003 |
Null Pituitary Adenoma |
10 |
1971 |
|
PRT171 |
Partial Deletion of the Short Arm of Chromosome 18 |
10 |
1972 |
c
|
ALP037 |
Alopecia, Androgenetic, 3 |
10 |
1973 |
|
DBR003 |
Dobrow Syndrome |
10 |
1974 |
|
CHR287 |
Chronic Polyradiculoneuritis |
10 |
1975 |
|
CHN026 |
Chondrodysplasia Calcificans Metaphysealis |
10 |
1976 |
c
|
PTL011 |
Patella, Familial Recurrent Dislocation of |
10 |
1977 |
|
TBF001 |
Tibio-Fibular Synostosis |
10 |
1978 |
|
CLR128 |
Ciliary Discoordination Due to Random Ciliary Orientation |
10 |
1979 |
|
XLN147 |
X-Linked Intellectual Disability, Stoll Type |
10 |
1980 |
|
ALP098 |
Alpha-2-Deficient Collagen Disease |
10 |
1981 |
|
ARW003 |
Airway-Centered Interstitial Fibrosis |
10 |
1982 |
|
DVR003 |
Devriendt Syndrome |
10 |
1983 |
|
AHM001 |
Ahumada Del Castillo Syndrome |
10 |
1984 |
|
PRM302 |
Paramedian Facial Cleft |
10 |
1985 |
c
|
CRY033 |
Cryofibrinogenemia, Familial Primary |
10 |
1986 |
|
MCR301 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
10 |
1987 |
|
DST078 |
Distal Trisomy 6q |
10 |
1988 |
|
AMN016 |
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
10 |
1989 |
|
BTH003 |
Bothriocephalosis |
10 |
1990 |
|
TRG018 |
Trigonocephaly-Broad Thumbs Syndrome |
10 |
1991 |
|
SYN027 |
Syngnathia Cleft Palate |
10 |
1992 |
|
MXL013 |
Maxillary Arteriovenous Malformation |
10 |
1993 |
|
DST084 |
Distal Trisomy 8q |
10 |
1994 |
|
TNK001 |
Tonoki Syndrome |
10 |
1995 |
|
SPR028 |
Spirochetes Disease |
10 |
1996 |
|
ACQ074 |
Acquired Factor Xi Deficiency |
10 |
1997 |
|
HMR014 |
Hemorrhagic Shock and Encephalopathy Syndrome |
10 |
1998 |
c
|
ACQ056 |
Acquired Ataxia |
10 |
1999 |
c
|
INT491 |
Intellectual Developmental Disorder, X-Linked 42 |
10 |
2000 |
c
|
PRT182 |
Partial Monosomy of the Long Arm of Chromosome 9 |
10 |
2001 |
|
FBL017 |
Fibular Dimelia-Diplopodia Syndrome |
10 |
2002 |
|
NNS059 |
Non-Syndromic Limb Reduction Defect |
10 |
2003 |
|
MGL007 |
Megalocytic Interstitial Nephritis |
10 |
2004 |
|
SNS012 |
Sinus Node Disease and Myopia |
10 |
2005 |
|
PRT160 |
Partial Deletion of the Short Arm of Chromosome 4 |
10 |
2006 |
|
RNP002 |
Renoprival Hypertension |
10 |
2007 |
|
HMP015 |
Hemophagocytic Reticulosis |
10 |
2008 |
|
CNS021 |
Constitutional Neutropenia |
10 |
2009 |
|
RDT016 |
Radiation-Induced Plexopathy |
10 |
2010 |
|
PRT231 |
Partial Duplication of Chromosome 4 |
10 |
2011 |
c
|
BRC035 |
Brachydactyly Type A5 |
10 |
2012 |
|
MCR090 |
Microspherophakia with Hernia |
10 |
2013 |
|
PRT167 |
Partial Deletion of the Short Arm of Chromosome 9 |
10 |
2014 |
|
NYS008 |
Nystagmus, Myoclonic |
10 |
2015 |
c
|
QLT007 |
Qualitative or Quantitative Defects of Delta-Sarcoglycan |
10 |
2016 |
|
GN1001 |
Gnao1 Encephalopathy |
10 |
2017 |
|
PRT179 |
Partial Deletion of the Long Arm of Chromosome 6 |
10 |
2018 |
|
CTR030 |
Citrulline Transport Defect |
10 |
2019 |
|
PRT249 |
Partial Autosomal Monosomy |
10 |
2020 |
|
TRS009 |
Trisomy 12 Mosaicism |
10 |
2021 |
|
PRT236 |
Partial Deletion of the Long Arm of Chromosome 15 |
10 |
2022 |
|
BRN050 |
Branchial Arch Defects |
9 |
2023 |
|
MLT171 |
Multiple Epiphyseal Dysplasia and Pseudoachondroplasia |
9 |
2024 |
c
|
MYL070 |
Myeloproliferative Disease, Autosomal Recessive |
9 |
2025 |
|
ACH016 |
Achard Thiers Syndrome |
9 |
2026 |
c
|
MYP129 |
Myopathy Due to Malate-Aspartate Shuttle Defect |
9 |
2027 |
|
SRP007 |
Serpinopathy |
9 |
2028 |
|
MTC024 |
Mitochondrial Genetic Disorders |
9 |
2029 |
c
|
ACQ029 |
Acquired Porencephaly |
9 |
2030 |
c
|
CNG266 |
Congenital Secondary Polycythemia |
9 |
2031 |
|
ISL064 |
Isolated Ankyloblepharon Filiforme Adnatum |
9 |
2032 |
|
PRT195 |
Partial Duplication of the Long Arm of Chromosome 8 |
9 |
2033 |
|
PRT218 |
Partial Duplication of the Short Arm of Chromosome 3 |
9 |
2034 |
|
DST088 |
Distal Trisomy 1p36 |
9 |
2035 |
c
|
NCL011 |
Nuclear Gene-Encoded Leigh Syndrome Spectrum |
9 |
2036 |
|
DFF017 |
Diffuse Cavernous Hemangioma of the Rectum |
9 |
2037 |
|
CNG359 |
Congenitally Uncorrected Transposition of the Great Arteries with Coarctation |
9 |
2038 |
c
|
PRM287 |
Primary Adult Heart Tumor |
9 |
2039 |
|
XNT007 |
Xanthogranulomatous Sialadenitis |
9 |
2040 |
|
GLC038 |
Glucose-6-Phosphate Translocase Deficiency |
9 |
2041 |
|
NNR005 |
Non-Rhizomelic Chondrodysplasia Punctata |
9 |
2042 |
|
MSM006 |
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type |
9 |
2043 |
c
|
MTR064 |
Maternal Uniparental Disomy of Chromosome 22 |
9 |
2044 |
|
GRN018 |
Granulomas, Congenital Cerebral |
9 |
2045 |
|
BRS103 |
Bier Spots |
9 |
2046 |
|
HND013 |
Handl Syndrome |
9 |
2047 |
c
|
RRD039 |
Rare Dystonia |
9 |
2048 |
|
XLN212 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
9 |
2049 |
|
MRV001 |
Morvan's Fibrillary Chorea |
9 |
2050 |
|
DST087 |
Distal Trisomy 7p |
9 |
2051 |
|
PRT238 |
Partial Deletion of the Long Arm of Chromosome 17 |
9 |
2052 |
|
PRT241 |
Partial Deletion of the Long Arm of Chromosome 20 |
9 |
2053 |
|
PRT225 |
Partial Duplication of Chromosome 17 |
9 |
2054 |
|
TRN049 |
Transient Tyrosinemia of the Newborn |
9 |
2055 |
|
CQR001 |
Coq-Responsive Oxphos Deficiency |
9 |
2056 |
|
PLY165 |
Polyosteolysis-Hyperostosis Syndrome |
9 |
2057 |
c
|
JVN030 |
Juvenile Overlap Myositis |
9 |
2058 |
|
CYT006 |
Cytoplasmic Body Myopathy |
9 |
2059 |
|
ACT096 |
Acute Cholinergic Dysautonomia |
9 |
2060 |
|
ART161 |
Aortic Malformation |
9 |
2061 |
c
|
ACT189 |
Acute Neonatal Citrullinemia Type I |
9 |
2062 |
|
BNG090 |
Benign Nocturnal Alternating Hemiplegia of Childhood |
9 |
2063 |
|
ZSK001 |
Zuska's Disease |
9 |
2064 |
c
|
ATS437 |
Autosomal Dominant Spastic Ataxia |
9 |
2065 |
|
HRD225 |
Hereditary Angioedema with Normal C1inh Not Related to F12 or Plg Variant |
9 |
2066 |
P
|
RCR003 |
Recurrent Peripheral Facial Palsy |
9 |
2067 |
P
|
MCR048 |
Microcephaly Chorioretinopathy Recessive Form |
9 |
2068 |
|
GNT126 |
Genetic Hypoparathyroidism |
9 |
2069 |
|
RFS002 |
Refsum Disease with Increased Pipecolic Acidemia |
9 |
2070 |
|
FND005 |
Fundus Pulverulentus |
9 |
2071 |
|
CNG255 |
Congenital Temporomandibular Joint Ankylosis |
9 |
2072 |
|
MTH081 |
Mthfr Gene Variant |
9 |
2073 |
|
LPD038 |
Lipedematous Scalp |
9 |
2074 |
c
|
TYS006 |
Tay-Sachs Disease, B Variant, Adult Form |
9 |
2075 |
c
|
LCT020 |
Lactic Acidosis, Chronic Adult Form |
9 |
2076 |
|
PRT235 |
Partial Deletion of the Long Arm of Chromosome 14 |
9 |
2077 |
|
FGF013 |
Fgfr3-Related Chondrodysplasia |
9 |
2078 |
|
MSC013 |
Mosaic Monosomy 18 |
9 |
2079 |
|
PRT226 |
Partial Duplication of Chromosome 16 |
9 |
2080 |
|
PPL055 |
Pupil, Egg-Shaped |
9 |
2081 |
c
|
PSD023 |
Pseudo-Gaucher Disease |
9 |
2082 |
c
|
CNG628 |
Congenital Disorder of Glycosylation Iw |
9 |
2083 |
|
RDT003 |
Radiation Induced Angiosarcoma of the Breast |
9 |
2084 |
|
MYC091 |
Mycosis Fungoides and Variants |
9 |
2085 |
|
BTZ001 |
Baetz-Greenwalt Syndrome |
9 |
2086 |
c
|
MTR065 |
Maternal Uniparental Disomy of Chromosome 21 |
9 |
2087 |
|
CDC005 |
Cad-Cdg |
9 |
2088 |
|
INF120 |
Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis |
9 |
2089 |
|
LKN006 |
Leukoencephalopathy, Cerebral Calcifications, and Cysts |
9 |
2090 |
|
PRT239 |
Partial Deletion of the Long Arm of Chromosome 18 |
9 |
2091 |
c
|
UNP003 |
Uniparental Disomy of Chromosome 11 |
8 |
2092 |
c
|
PRM317 |
Primary Qualitative or Quantitative Defects of Alpha-Dystroglycan |
8 |
2093 |
|
PRT146 |
Partial Deletion of Chromosome 8 |
8 |
2094 |
|
ADN079 |
Adenosine Triphosphatase Deficiency, Anemia Due to |
8 |
2095 |
|
MTP038 |
Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome |
8 |
2096 |
c
|
MTC183 |
Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies |
8 |
2097 |
|
PRT197 |
Partial Duplication of the Long Arm of Chromosome 15 |
8 |
2098 |
|
PRT217 |
Partial Duplication of the Short Arm of Chromosome 4 |
8 |
2099 |
|
PRT242 |
Partial Deletion of the Long Arm of Chromosome 21 |
8 |
2100 |
|
PHK009 |
Phakomatosis Cesiomarmorata |
8 |
2101 |
c
|
CNG110 |
Congenital Mumps |
8 |
2102 |
c
|
ATS471 |
Autosomal Dominant Complex Spastic Paraplegia |
8 |
2103 |
|
HRP010 |
Herpes Virus Antenatal Infection |
8 |
2104 |
|
ACT171 |
Acute Opioid Poisoning |
8 |
2105 |
|
PRM249 |
Primary Condylar Hyperplasia |
8 |
2106 |
|
2MT002 |
2-Methylacetoacetyl Coa Thiolase Deficiency |
8 |
2107 |
|
BRN058 |
Brunsting-Perry Syndrome |
8 |
2108 |
|
NND013 |
Non-Dystrophic Myopathy |
8 |
2109 |
c
|
ACQ035 |
Acquired Angioedema Type 1 |
8 |
2110 |
|
IDP014 |
Idiopathic Alveolar Hypoventilation Syndrome |
8 |
2111 |
|
CHL154 |
Childhood-Onset Epilepsy Syndrome |
8 |
2112 |
|
PST076 |
Postcardiotomy Right Ventricular Failure |
8 |
2113 |
|
CHR259 |
Chromosome 6q25 Microdeletion Syndrome |
8 |
2114 |
|
APD001 |
Apo a-I Deficiency |
8 |
2115 |
|
SCL040 |
Scleromyxedema Without Monoclonal Gammopathy |
8 |
2116 |
|
INF115 |
Infectious Epithelial Keratitis |
8 |
2117 |
|
PRC025 |
Precocious Puberty, Gonadotropin-Dependent |
8 |
2118 |
|
GNT022 |
Giant Mammary Hamartoma |
8 |
2119 |
|
PRT149 |
Partial Deletion of Chromosome 7 |
8 |
2120 |
|
GNT152 |
Genetic Hyperaldosteronism |
8 |
2121 |
|
PRT199 |
Partial Duplication of the Long Arm of Chromosome 13 |
8 |
2122 |
c
|
SCN080 |
Secondary Avascular Necrosis |
8 |
2123 |
|
PRT234 |
Partial Duplication of Chromosome 7 |
8 |
2124 |
|
SLB001 |
Saal Bulas Syndrome |
8 |
2125 |
|
INC032 |
Inclusion Myopathy |
8 |
2126 |
|
MCP029 |
Mucopolysaccharidosis Type 6, Rapidly Progressing |
8 |
2127 |
|
ISL053 |
Isolated Asymptomatic Elevation of Creatine Phosphokinase |
8 |
2128 |
|
EMR002 |
Emerinopathy |
8 |
2129 |
|
PRM286 |
Primary Pediatric Heart Tumor |
8 |
2130 |
|
HML043 |
Hemolytic Disease of the Newborn with Kell Alloimmunization |
8 |
2131 |
|
ISL047 |
Isolated Unilateral Hemispheric Cerebellar Hypoplasia |
8 |
2132 |
|
TRS013 |
Trisomy 3 Mosaicism |
8 |
2133 |
|
PRT174 |
Partial Deletion of the Long Arm of Chromosome 1 |
8 |
2134 |
|
DWR022 |
Dwarfism, Proportionate, with Hip Dislocation |
8 |
2135 |
P
|
TTL001 |
Total Internal Ophthalmoplegia |
8 |
2136 |
|
PRT223 |
Partial Duplication of Chromosome 11 |
8 |
2137 |
|
NLD003 |
Nail Dysplasia, Isolated Congenital |
8 |
2138 |
|
EXT055 |
Extragonadal Germinoma |
8 |
2139 |
c
|
PRM322 |
Primary Myoclonus |
8 |
2140 |
|
ESN021 |
Eosinophilic Mastitis |
8 |
2141 |
|
PRT219 |
Partial Duplication of the Short Arm of Chromosome 6 |
8 |
2142 |
c
|
PRT194 |
Partial Trisomy of the Long Arm of Chromosome 9 |
8 |
2143 |
|
PRT192 |
Partial Duplication of the Long Arm of Chromosome 22 |
8 |
2144 |
|
12Q001 |
12q15q21.1 Microdeletion Syndrome |
8 |
2145 |
|
HM3001 |
Hemi 3 Syndrome |
8 |
2146 |
|
PRT150 |
Partial Deletion of the Long Arm of Chromosome 12 |
8 |
2147 |
c
|
PRM325 |
Primary Avascular Necrosis |
8 |
2148 |
|
RGN006 |
Regional Variant of Guillain-Barre Syndrome |
8 |
2149 |
|
PRT176 |
Partial Deletion of the Long Arm of Chromosome 3 |
8 |
2150 |
|
GNR048 |
Generalized Isolated Dystonia |
8 |
2151 |
|
EXT051 |
Extracranial Arteriovenous Malformation |
8 |
2152 |
|
DWR002 |
Dauwerse-Peters Syndrome |
8 |
2153 |
|
CRB075 |
Cerebral Sclerosis Similar to Pelizaeus-Merzbacher Disease |
8 |
2154 |
|
DSR057 |
Disorder of Glycolysis |
8 |
2155 |
c
|
ATS463 |
Autosomal Dominant Cerebellar Ataxia Type Iv |
8 |
2156 |
|
CLS033 |
Clostridium Sordellii Infection |
8 |
2157 |
|
UNV005 |
Universal Acquired Melanosis |
7 |
2158 |
|
CMM016 |
Commissural Lip Fistula |
7 |
2159 |
c
|
ACT272 |
Acute Myeloid Leukemia with T(1;22)(p13;q13) |
7 |
2160 |
|
CNG117 |
Congenital Nonhemolytic Jaundice |
7 |
2161 |
c
|
ATS439 |
Autosomal Ichthyosis Syndrome |
7 |
2162 |
P
|
PRX076 |
Peroxisomal Beta-Oxidation Disorder |
7 |
2163 |
|
BNG083 |
Benign Focal Seizures of Adolescence |
7 |
2164 |
|
SBC040 |
Subcutaneous Tissue Disease |
7 |
2165 |
|
IDN004 |
Iodine Antenatal Exposure |
7 |
2166 |
|
7Q3001 |
7q31 Microdeletion Syndrome |
7 |
2167 |
|
CL4010 |
Col4a1 or Col4a2-Related Cerebral Small Vessel Disease |
7 |
2168 |
|
DZX006 |
Diazoxide-Resistant Focal Hyperinsulinism |
7 |
2169 |
|
ISL149 |
Isolated Nail Anomaly |
7 |
2170 |
|
NND009 |
Non-Distal Trisomy 9q |
7 |
2171 |
|
MSC018 |
Mosaic Trisomy 6 |
7 |
2172 |
|
NNS055 |
Non-Syndromic Preaxial Polydactyly |
7 |
2173 |
|
NNH012 |
Non-Hereditary Degenerative Ataxia |
7 |
2174 |
|
TBL020 |
Tubular Duplication of the Esophagus |
7 |
2175 |
|
IDP088 |
Idiopathic Isolated Micropenis |
7 |
2176 |
|
STT009 |
Sutton Disease 2 |
7 |
2177 |
|
TRS022 |
Torsade De Pointes, Short-Coupled Variant |
7 |
2178 |
|
MHT001 |
Mehta Lewis Patton Syndrome |
7 |
2179 |
c
|
BCK015 |
Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 |
7 |
2180 |
c
|
TYS003 |
Tay-Sachs Disease, B Variant, Juvenile Form |
7 |
2181 |
|
CRB183 |
Cerebral Malformation, Seizures, Hypertrichosis, and Overlapping Fingers |
7 |
2182 |
|
PLT011 |
Pilotto Syndrome |
7 |
2183 |
|
HYP850 |
Hypoglossia/aglossia |
7 |
2184 |
|
BDH001 |
Boudhina Yedes Khiari Syndrome |
7 |
2185 |
|
DYS208 |
Dysostosis with Brachydactyly |
7 |
2186 |
|
CMP026 |
Camptodactyly-Ichthyosis Syndrome |
7 |
2187 |
|
4Q2002 |
4q25 Proximal Deletion Syndrome |
7 |
2188 |
|
SYN096 |
Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication |
7 |
2189 |
c
|
PRT170 |
Partial Monosomy of the Short Arm of Chromosome 17 |
7 |
2190 |
|
CNG610 |
Congenital Hypoplasia of Thumb |
7 |
2191 |
|
CNG286 |
Congenital Absence of Thigh and Lower Leg with Foot Present |
7 |
2192 |
|
ECT057 |
Ectasia of the Right Atrial Appendage |
7 |
2193 |
|
TTR020 |
Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria |
7 |
2194 |
c
|
TYS004 |
Tay-Sachs Disease, B Variant, Infantile Form |
7 |
2195 |
|
CRB063 |
Cerebello-Olivary Atrophy |
7 |
2196 |
|
GNT108 |
Genetic Infertility |
7 |
2197 |
c
|
PTR023 |
Paternal Uniparental Disomy of Chromosome 13 |
7 |
2198 |
|
CTR011 |
Cataract Hutterite Type |
7 |
2199 |
|
PRT168 |
Partial Deletion of the Short Arm of Chromosome 16 |
7 |
2200 |
c
|
PTR022 |
Paternal Uniparental Disomy of Chromosome 7 |
7 |
2201 |
c
|
MTR079 |
Maternal Uniparental Disomy of Chromosome 13 |
7 |
2202 |
c
|
ATS153 |
Autosomal Recessive Pure Spastic Paraplegia |
7 |
2203 |
|
SCK006 |
Sackey Sakati Aur Syndrome |
7 |
2204 |
c
|
LSS019 |
Lissencephaly with Cerebellar Hypoplasia Type E |
7 |
2205 |
|
GNR045 |
Generalized Lipodystrophy-Associated Progeroid Syndrome |
7 |
2206 |
c
|
LSS021 |
Lissencephaly with Cerebellar Hypoplasia Type a |
7 |
2207 |
c
|
LSS018 |
Lissencephaly with Cerebellar Hypoplasia Type F |
7 |
2208 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
7 |
2209 |
|
HYP196 |
Hypodontia, X-Linked |
7 |
2210 |
|
WND003 |
Windblown Hand |
7 |
2211 |
|
PRT147 |
Partial Deletion of Chromosome 9 |
7 |
2212 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
2213 |
|
PRT216 |
Partial Trisomy of Chromosome 20 |
7 |
2214 |
|
PRT213 |
Partial Duplication of Chromosome 19 |
7 |
2215 |
|
PRT222 |
Partial Duplication of Chromosome 8 |
7 |
2216 |
|
JRG001 |
Jorgenson Lenz Syndrome |
7 |
2217 |
|
PRT201 |
Partial Duplication of the Long Arm of Chromosome 3 |
7 |
2218 |
|
ALZ038 |
Alezzandrini Syndrome |
7 |
2219 |
|
DNS002 |
Dens in Dente and Palatal Invaginations |
7 |
2220 |
|
WSC001 |
Wisconsin Syndrome |
7 |
2221 |
c
|
ATS273 |
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
7 |
2222 |
c
|
FRN055 |
Furuncular Myiasis Due to Cordylobia Rodhaini |
7 |
2223 |
c
|
CRB078 |
Cerebrocostomandibular-Like Syndrome |
7 |
2224 |
|
SMD014 |
Samd9l-Associated Autoinflammatory Syndrome |
7 |
2225 |
|
BYL003 |
Baylisascaris Infection |
7 |
2226 |
|
DPR003 |
Diprosopia |
7 |
2227 |
|
GNT078 |
Genetic Multiple Congenital Anomalies/dysmorphic Syndrome |
6 |
2228 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
2229 |
|
MCP019 |
Mcpherson Robertson Cammarano Syndrome |
6 |
2230 |
c
|
ATS003 |
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome |
6 |
2231 |
c
|
SCN009 |
Scn1a-Related Seizure Disorders |
6 |
2232 |
|
ZDK001 |
Zadik Barak Levin Syndrome |
6 |
2233 |
|
AMN008 |
Aminolevulinate Dehydratase Deficiency Porphyria |
6 |
2234 |
|
MCR294 |
Macrocephaly-Short Stature-Paraplegia Syndrome |
6 |
2235 |
|
UNS002 |
Unspecified Juvenile Idiopathic Arthritis |
6 |
2236 |
P
|
PRM298 |
Primary Peritoneal Tumor |
6 |
2237 |
|
PRT191 |
Partial Duplication of the Long Arm of Chromosome 17 |
6 |
2238 |
|
SCN081 |
Secondary Neonatal Autoimmune Disease |
6 |
2239 |
|
MTP007 |
Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands |
6 |
2240 |
c
|
JVN062 |
Juvenile-Onset Steinert Myotonic Dystrophy |
6 |
2241 |
|
PRT189 |
Partial Duplication of the Long Arm of Chromosome 19 |
6 |
2242 |
|
LNG103 |
Lin-Gettig Syndrome |
6 |
2243 |
|
PRM370 |
Primary Acquired Red Cell Aplasia |
6 |
2244 |
|
QLT016 |
Qualitative or Quantitative Defects of Protein Involved in O-Glycosylation of Alpha-Dystroglycan |
6 |
2245 |
|
SMS002 |
Samson Viljoen Syndrome |
6 |
2246 |
|
CHR230 |
Chromosome 20q Deletion |
6 |
2247 |
|
CLR028 |
Ciliary Dyskinesia-Bronchiectasis |
6 |
2248 |
|
CNG259 |
Congenitally Uncorrected Transposition of the Great Arteries with Cardiac Malformation |
6 |
2249 |
|
ENC009 |
Encephalocele Anencephaly |
6 |
2250 |
|
LWR011 |
Lower Lip Fistula |
6 |
2251 |
|
ERY018 |
Erythema Nodosum, Idiopathic |
6 |
2252 |
|
HLL007 |
Halal Syndrome |
6 |
2253 |
|
ALG007 |
Al-Gazali-Donnai-Mueller Syndrome |
6 |
2254 |
|
BSD002 |
Basedow's Coma |
6 |
2255 |
|
GYF001 |
Gay Feinmesser Cohen Syndrome |
6 |
2256 |
|
SLT006 |
Slti Salem Syndrome |
6 |
2257 |
|
BNG063 |
Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy |
6 |
2258 |
|
ACR083 |
Acrofacial Dysostosis, Kennedy-Teebi Type |
6 |
2259 |
|
SCH032 |
Schrander-Stumpel Theunissen Hulsmans Syndrome |
6 |
2260 |
|
PHP001 |
Phip-Related Disorder |
6 |
2261 |
|
CHN051 |
Choanal Atresia, Unilateral |
6 |
2262 |
|
FCL034 |
Facial Dermoid Cyst |
6 |
2263 |
c
|
BCK011 |
Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion |
6 |
2264 |
|
FCL071 |
Facial Diplegia with Paresthesias |
6 |
2265 |
|
ALP024 |
Alopecia Universalis Onychodystrophy Vitiligo |
6 |
2266 |
|
CHR271 |
Chromosome 9q Deletion |
6 |
2267 |
|
ISL044 |
Isolated Arhinencephaly |
6 |
2268 |
|
DMN008 |
Dominant Cleft Palate |
6 |
2269 |
c
|
PLY005 |
Polycythemia Due to Hypoxia |
6 |
2270 |
c
|
TTL014 |
Total Autosomal Monosomy |
6 |
2271 |
c
|
MRN006 |
Marinesco-Sjogren-Like Syndrome |
6 |
2272 |
|
F12001 |
F12-Associated Cold Autoinflammatory Syndrome |
6 |
2273 |
|
CRT035 |
Cretinism Athyreotic |
6 |
2274 |
|
SMS001 |
Samson Gardner Syndrome |
6 |
2275 |
|
PRT157 |
Partial Deletion of Chromosome 19 |
6 |
2276 |
|
PRT248 |
Partial Autosomal Trisomy/tetrasomy |
6 |
2277 |
|
C12001 |
C12orf65-Related Combined Oxidative Phosphorylation Defect |
6 |
2278 |
|
ARR003 |
Arroyo Garcia Cimadevilla Syndrome |
6 |
2279 |
|
GLY022 |
Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency |
6 |
2280 |
|
BNG097 |
Benign Metanephric Tumor |
6 |
2281 |
|
ANN003 |
Anencephaly and Spina Bifida X-Linked |
6 |
2282 |
|
MSS003 |
Massa Casaer Ceulemans Syndrome |
6 |
2283 |
|
ACR117 |
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia |
6 |
2284 |
|
GNT077 |
Genetic Congenital Limb Malformation |
6 |
2285 |
|
SYN101 |
Syndromic Hypothyroidism |
6 |
2286 |
|
ATS361 |
Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome |
6 |
2287 |
|
CMP032 |
Complement Component Receptor 1 |
6 |
2288 |
c
|
BNG038 |
Benign Autosomal Dominant Myopathy |
6 |
2289 |
|
PFF003 |
Pfeiffer Mayer Syndrome |
6 |
2290 |
|
DST011 |
Distal Chromosome 18q Deletion Syndrome |
6 |
2291 |
|
MTC180 |
Mitochondrial Dna-Related Dystonia |
6 |
2292 |
c
|
MTC189 |
Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna |
6 |
2293 |
|
TRM028 |
Terminal Transverse Limb Defect |
6 |
2294 |
|
PRT252 |
Partial Atrioventricular Septal Defect with Ventricular Hypoplasia |
6 |
2295 |
|
LVT002 |
Levotransposition of the Great Arteries |
5 |
2296 |
|
CRN072 |
Coronaro-Cardiac Fistula |
5 |
2297 |
c
|
TRM030 |
Trim22-Related Inflammatory Bowel Disease |
5 |
2298 |
c
|
HYP232 |
Hypothyroidism Due to Iodide Transport Defect |
5 |
2299 |
c
|
RRH011 |
Rare Hyperparathyroidism |
5 |
2300 |
P
|
ATS271 |
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
5 |
2301 |
|
SYS008 |
Systemic Necrotizing Angitis |
5 |
2302 |
P
|
GNT133 |
Genetic Disorder of Sex Development |
5 |
2303 |
|
MDL010 |
Midline Cleft of Lower Lip |
5 |
2304 |
|
SCH034 |
Schwartz Cohen-Addad Lambert Syndrome |
5 |
2305 |
|
EPT030 |
Epithelial Tumor of the Appendix |
5 |
2306 |
|
ACT215 |
Actg2-Related Disorders |
5 |
2307 |
c
|
PRM303 |
Primary Early-Onset Glaucoma |
5 |
2308 |
|
ERL027 |
Early-Onset Non-Syndromic Cataract |
5 |
2309 |
c
|
CHR179 |
Chromosome 1, Uniparental Disomy 1q12 Q21 |
5 |
2310 |
c
|
SCN083 |
Secondary Early-Onset Glaucoma |
5 |
2311 |
|
MLF009 |
Malformation of the Cerebellar Vermis |
5 |
2312 |
|
QLT003 |
Qualitative or Quantitative Defects of Collagen 6 |
5 |
2313 |
|
NNS148 |
Non-Syndromic Unisutural Craniosynostosis |
5 |
2314 |
|
ATS245 |
Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency |
5 |
2315 |
c
|
CHR162 |
Chiari Malformation Type 4 |
5 |
2316 |
|
TLL002 |
Tollner Horst Manzke Syndrome |
5 |
2317 |
|
PRT227 |
Partial Deletion of the Long Arm of Chromosome 22 |
5 |
2318 |
|
GNT142 |
Genetic Progeroid Syndrome |
5 |
2319 |
|
FNG012 |
Finger Hyperphalangy-Toe Anomalies-Severe Pectus Excavatum Syndrome |
5 |
2320 |
|
HYP627 |
Hyper-Igm Syndrome with Susceptibility to Opportunistic Infections |
5 |
2321 |
|
CHR184 |
Chromosome 10q Duplication |
5 |
2322 |
|
STR075 |
Straddling or Overriding Tricuspid Valve |
5 |
2323 |
|
ISL117 |
Isolated Congenital Radial Head Dislocation |
5 |
2324 |
|
ANM023 |
Anomaly of the Tricuspid Subvalvular Apparatus |
5 |
2325 |
|
SYN152 |
Syndromic Keratoconus |
5 |
2326 |
|
DSR077 |
Disorder of the Gamma-Glutamyl Cycle |
5 |
2327 |
|
SPN268 |
Spondyloepimetaphyseal Dysplasia, Isidor Type |
5 |
2328 |
|
ABN010 |
Abnormal Number of Coronary Ostia |
5 |
2329 |
|
ACT172 |
Acute Tricyclic Antidepressant Poisoning |
5 |
2330 |
c
|
PRM318 |
Primary Short Bowel Syndrome |
5 |
2331 |
|
PRT243 |
Partial Duplication of the Short Arm of Chromosome 1 |
5 |
2332 |
|
CNG537 |
Congenital Anomaly of the Tricuspid Valve Chordae |
5 |
2333 |
|
CNG317 |
Congenital Genu Flexum |
5 |
2334 |
|
KDM002 |
Kdm3b-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome |
5 |
2335 |
c
|
TRS028 |
Torsion Dystonia 17 |
5 |
2336 |
|
NNS049 |
Non-Syndromic Uterovaginal Malformation |
5 |
2337 |
|
FLV003 |
Flavimonas Oryzihabitans Infection |
5 |
2338 |
|
BRC022 |
Brachydactyly Anonychia |
5 |
2339 |
c
|
CTR008 |
Cataract Congenital Autosomal Dominant |
5 |
2340 |
|
FRX003 |
Fraxf Syndrome |
5 |
2341 |
|
GNT177 |
Genetic Cardiac Rhythm Disease |
5 |
2342 |
|
LTH049 |
Lethal Multiple Congenital Anomalies/dysmorphic Syndrome |
5 |
2343 |
|
DNS011 |
Dense Granule Disease |
5 |
2344 |
|
MXD048 |
Mixed Functioning Pituitary Adenoma |
5 |
2345 |
|
BKR001 |
Baker Vinters Syndrome |
5 |
2346 |
|
KZL001 |
Kozlowski Brown Hardwick Syndrome |
5 |
2347 |
|
CHR221 |
Chromosome 1p Duplication |
5 |
2348 |
|
HYP184 |
Hypertrophic Branchial Myopathy |
5 |
2349 |
|
KRB003 |
Krieble Bixler Syndrome |
5 |
2350 |
|
SYN156 |
Syndrome with Limb Malformations As a Major Feature |
5 |
2351 |
|
CRN071 |
Coronal Synostosis, Syndactyly and Jejunal Atresia |
5 |
2352 |
|
JFF001 |
Jaffer Beighton Syndrome |
5 |
2353 |
|
SPR029 |
Spirurida Infections |
5 |
2354 |
|
HTW001 |
Hot Water Reflex Epilepsy |
5 |
2355 |
|
ATS435 |
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency |
5 |
2356 |
|
SYN100 |
Syndromic Uterovaginal Malformation |
5 |
2357 |
|
ATS434 |
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency |
5 |
2358 |
|
UNX005 |
Unexplained Periodic Fever Syndrome |
5 |
2359 |
P
|
YCH005 |
Y Chromosome Number Anomaly |
5 |
2360 |
|
ATS436 |
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency |
5 |
2361 |
|
SYS058 |
Systemic Monochloroacetate Poisoning |
5 |
2362 |
|
HMZ005 |
Homozygous 2p21 Microdeletion Syndrome |
5 |
2363 |
|
OCL028 |
Oculo Digital Syndrome |
5 |
2364 |
|
GNT164 |
Genetic Cardiac Malformation |
5 |
2365 |
|
SYN097 |
Syndromic Urogenital Tract Malformation |
5 |
2366 |
|
MDL029 |
Medullar Disease |
5 |
2367 |
|
NNS062 |
Non-Syndromic Limb Malformation |
5 |
2368 |
|
PDD001 |
Podder-Tolmie Syndrome |
5 |
2369 |
|
GLC108 |
Gluconeogenesis Disorder |
5 |
2370 |
|
MDN007 |
Median Cleft Lip/mandibule |
5 |
2371 |
c
|
XCH002 |
X Chromosome Number Anomaly |
5 |
2372 |
|
PRT247 |
Partial Duplication of the Short Arm of Chromosome 19 |
5 |
2373 |
|
PRD032 |
Periodic Paralysis with Transient Compartment-Like Syndrome |
5 |
2374 |
|
MSC014 |
Mosaic Monosomy 22 |
5 |
2375 |
c
|
SYS074 |
Systemic Diseases with Anterior Uveitis |
5 |
2376 |
|
CHR206 |
Chromosome 16q Deletion |
5 |
2377 |
|
GNT014 |
Genetic Reflex Epilepsy |
5 |
2378 |
c
|
LCT010 |
Lactic Acidosis Congenital Infantile |
5 |
2379 |
|
HMR036 |
Humero-Ulnar Synostosis, Unilateral |
5 |
2380 |
|
GLB027 |
Global Cerebellar Malformation |
5 |
2381 |
c
|
ISL039 |
Isolated Focal Cortical Dysplasia Type Ic |
5 |
2382 |
c
|
CXV001 |
Coxa Vara, Congenital |
5 |
2383 |
|
AGL001 |
Aglossia and Situs Inversus |
5 |
2384 |
|
CHR245 |
Chromosome 3q Deletion |
5 |
2385 |
|
NNS136 |
Non-Syndromic Bicoronal and Sagittal Craniosynostosis |
5 |
2386 |
|
MNN041 |
Mannose-Binding Lectin Protein Deficiency |
5 |
2387 |
|
BNG080 |
Benign Childhood Occipital Epilepsy, Gastaut Type |
5 |
2388 |
|
NNS137 |
Non-Syndromic Pansynostosis |
5 |
2389 |
|
NNS141 |
Non-Syndromic Unicoronal and Sagittal Craniosynostosis |
5 |
2390 |
c
|
GLC033 |
Glaucoma, Hereditary Adult Type 1a |
5 |
2391 |
|
ISL126 |
Isolated Iridoschisis |
5 |
2392 |
|
PNC057 |
Poncet-Spiegler's Cylindroma |
5 |
2393 |
|
HMR037 |
Humero-Ulnar Synostosis, Bilateral |
5 |
2394 |
c
|
GLC035 |
Glaucoma, Primary Infantile Type 3a |
5 |
2395 |
c
|
GLC029 |
Glaucoma Type 1c |
5 |
2396 |
|
TRS008 |
Trisomy 11 Mosaicism |
5 |
2397 |
|
ISL127 |
Isolated Blepharochalasis |
5 |
2398 |
|
OVR117 |
Overgrowth Syndrome with 2q37 Translocation |
5 |
2399 |
c
|
GLC034 |
Glaucoma, Hereditary Juvenile Type 1b |
5 |
2400 |
|
SYN144 |
Syndromic Outer Canthal Malposition |
5 |
2401 |
|
BCK016 |
Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication |
5 |
2402 |
c
|
TTL013 |
Total Autosomal Trisomy |
5 |
2403 |
|
CRN313 |
Corneodysgenesis |
5 |
2404 |
|
HRP036 |
Herpesvirus Simiae B Virus Infection |
5 |
2405 |
c
|
OCL037 |
Oculodentodigital Dysplasia Dominant |
5 |
2406 |
c
|
INF177 |
Inflammatory and Autoimmune Disease with Epilepsy |
5 |
2407 |
c
|
FRG005 |
Fragile X Syndrome Type 2 |
4 |
2408 |
c
|
FRG004 |
Fragile X Syndrome Type 1 |
4 |
2409 |
P
|
RRN005 |
Rare Insulin-Resistance Syndrome |
4 |
2410 |
|
EPS046 |
Epstein-Barr Virus-Related Tumor |
4 |
2411 |
c
|
FRG006 |
Fragile X Syndrome Type 3 |
4 |
2412 |
|
FRX001 |
Fraxd |
4 |
2413 |
c
|
ATS408 |
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 |
4 |
2414 |
c
|
DPL004 |
D-Plus Hemolytic Uremic Syndrome |
4 |
2415 |
|
CLS021 |
Closed Iniencephaly |
4 |
2416 |
|
DSR038 |
Disorder of Catecholamine Synthesis |
4 |
2417 |
|
CNG060 |
Congenital Articular Rigidity |
4 |
2418 |
|
ELZ001 |
Elizabethkingia Anophelis Infection |
4 |
2419 |
|
OPN003 |
Open Iniencephaly |
4 |
2420 |
|
DSR059 |
Disorder of Carnitine Cycle and Carnitine Transport |
4 |
2421 |
c
|
SCN004 |
Secondary Vitreoretinal Degeneration |
4 |
2422 |
|
STT042 |
Stt3a-Cdg and Stt3b-Cdg |
4 |
2423 |
|
NNS108 |
Non-Syndromic Anorectal Malformation with Rectourethral Fistula |
4 |
2424 |
c
|
DSR009 |
Disorder of Peroxisomal Alpha-, Beta- and Omega-Oxidation |
4 |
2425 |
|
CNT052 |
Cantalamessa Baldini Ambrosi Syndrome |
4 |
2426 |
|
ARN001 |
Arena Syndrome |
4 |
2427 |
|
IMP008 |
Imperforate Oropharynx-Costo Vetebral Anomalies |
4 |
2428 |
|
RHB006 |
Rhabditida Infections |
4 |
2429 |
c
|
ATS022 |
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract |
4 |
2430 |
|
ACQ032 |
Acquired Kinky Hair Syndrome |
4 |
2431 |
|
PHS011 |
Phosphomannoisomerase Deficiency |
4 |
2432 |
|
KZL004 |
Kozlowski Rafinski Klicharska Syndrome |
4 |
2433 |
|
DPH010 |
Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis |
4 |
2434 |
|
ASM001 |
Ausems Wittebol-Post Hennekam Syndrome |
4 |
2435 |
|
UNC023 |
Unclassified Autoinflammatory Syndrome |
4 |
2436 |
|
LND002 |
Landy-Donnai Syndrome |
4 |
2437 |
|
CMP033 |
Complement Receptor Deficiency |
4 |
2438 |
|
PDT047 |
Pediatric-Onset Glaucoma |
4 |
2439 |
|
GNT129 |
Genetic Dermis Elastic Tissue Disorder |
4 |
2440 |
|
ARB006 |
Arbovirus Fever |
4 |
2441 |
|
OLG023 |
Oligoastrocytic Tumor |
4 |
2442 |
|
CHR171 |
Choroideremia Hypopituitarism |
4 |
2443 |
|
HYP504 |
Hypothalamic Hamartomas with Gelastic Seizures |
4 |
2444 |
|
PCR001 |
Pauciarticular Chronic Arthritis |
4 |
2445 |
|
PRD046 |
Periodic Fever Syndrome of Childhood |
4 |
2446 |
|
HYP194 |
Hypodermyasis |
4 |
2447 |
|
CNS010 |
Constitutional Dyserythropoietic Anemia |
4 |
2448 |
|
DSR061 |
Disorder of Keton Body Transport |
4 |
2449 |
|
IDP050 |
Idiopathic Linear Interstitial Keratitis |
4 |
2450 |
|
PRN060 |
Paraneoplastic Uveitis |
4 |
2451 |
|
GNT163 |
Genetic Alopecia |
4 |
2452 |
|
ALP080 |
Alpha-Crystallinopathy |
4 |
2453 |
|
SYN128 |
Syndromic Macular Dystrophy |
4 |
2454 |
|
ATS313 |
Autism-Facial Port-Wine Stain Syndrome |
4 |
2455 |
|
SYN162 |
Syndromic Esophageal Malformation |
4 |
2456 |
|
PNL022 |
Pineal Parenchymal Tumor of Intermediate Differenciation |
4 |
2457 |
|
SYN154 |
Syndromic Disorder with Strabismus |
4 |
2458 |
c
|
SYS076 |
Systemic Diseases with Posterior Uveitis |
4 |
2459 |
|
CRC010 |
Circumscribed Cutaneous Aplasia of the Vertex |
4 |
2460 |
|
FRN026 |
Frontonasal Dysplasia Phocomelic Upper Limbs |
4 |
2461 |
|
CHR255 |
Chromosome 6p Deletion |
4 |
2462 |
|
2HY002 |
2-Hydroxyethyl Methacrylate Sensitization |
4 |
2463 |
|
SPN142 |
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium |
4 |
2464 |
|
NNS111 |
Non-Syndromic Anorectal Malformation with Rectourethral Fistula, Bulbar Type |
4 |
2465 |
|
CNS019 |
Constitutional Sideroblastic Anemia |
4 |
2466 |
|
46X066 |
46,xy Disorder of Sex Development of Endocrine Origin |
4 |
2467 |
|
OTH025 |
Other Syndrome with Lissencephaly As a Major Feature |
4 |
2468 |
|
UNL009 |
Unilateral Congenital Megacalycosis |
4 |
2469 |
|
MCG001 |
Mcgillivray Syndrome |
4 |
2470 |
|
AKS001 |
Akesson Syndrome |
4 |
2471 |
|
RDL007 |
Radial Defect Robin Sequence |
4 |
2472 |
|
SYM029 |
Symptomatic Form of X-Linked Centronuclear Myopathy in Female Carriers |
4 |
2473 |
|
MCR377 |
Microblepharon-Ablephara Syndrome |
4 |
2474 |
|
PSD025 |
Pseudoachondroplastic Dysplasia 2 |
4 |
2475 |
|
DPH030 |
Diaphragmatic or Abdominal Wall Malformation |
4 |
2476 |
|
CNG269 |
Congenital Primary Megaureter, Refluxing Form |
4 |
2477 |
|
GNT166 |
Genetic Lethal Multiple Congenital Anomalies/dysmorphic Syndrome |
4 |
2478 |
P
|
46X065 |
46,xy Disorder of Gonadal Development |
4 |
2479 |
|
CNG331 |
Congenital Bilateral Megacalycosis |
4 |
2480 |
|
NNS109 |
Non-Syndromic Anorectal Malformation with Perineal Fistula |
4 |
2481 |
c
|
INF176 |
Infectious Disease with Epilepsy |
4 |
2482 |
c
|
FML357 |
Female Infertility Due to an Implantation Defect of Genetic Origin |
4 |
2483 |
|
VRN003 |
Vernal Keratitis |
4 |
2484 |
|
HRP008 |
Herpes Simiae |
4 |
2485 |
c
|
CRN093 |
Craniosynostosis Autosomal Dominant |
4 |
2486 |
|
MXD049 |
Mixed Dermis Disorder |
4 |
2487 |
c
|
HMC017 |
Homocystinuria Due to Defect in Methylation Cbl E |
4 |
2488 |
c
|
ATS473 |
Autosomal Recessive Whistling Face Syndrome |
4 |
2489 |
|
MYK001 |
Myokymia with Neonatal Epilepsy |
4 |
2490 |
|
HRD055 |
Hereditary Nodular Heterotopia |
4 |
2491 |
|
FRN019 |
Frints De Smet Fabry Fryns Syndrome |
4 |
2492 |
|
CNG568 |
Congenital Disorder of Glycosylation with Epilepsy As a Major Feature |
4 |
2493 |
|
CHR272 |
Chromosome 9q Duplication |
4 |
2494 |
|
ILL006 |
Ileal Pouch Anal Anastomosis Related Faecal Incontinence |
4 |
2495 |
|
KNR001 |
Koone Rizzo Elias Syndrome |
4 |
2496 |
|
ACR042 |
Acromesomelic Dysplasia Campailla Martinelli Type |
4 |
2497 |
|
SND003 |
Sanderson Fraser Syndrome |
4 |
2498 |
|
PYG009 |
Pyogenic Autoinflammatory Syndrome |
4 |
2499 |
|
5NC001 |
5-Nucleotidase Syndrome |
4 |
2500 |
|
NNS053 |
Non Syndromic Limb Overgrowth |
4 |
2501 |
|
MCT004 |
Micturation-Induced Seizures |
4 |
2502 |
|
AKB001 |
Akaba Hayasaka Syndrome |
4 |
2503 |
|
KLL002 |
Kallikrein Hypertension |
4 |
2504 |
|
SYS078 |
Systemic Disease with Glomerulopathy As a Major Feature |
4 |
2505 |
|
GNT068 |
Genetic Glomerular Disease |
4 |
2506 |
|
SCR026 |
Secernentea Infections |
4 |
2507 |
|
HYP178 |
Hyperthermia Induced Defects |
4 |
2508 |
|
PRM328 |
Primary Orthostatic Disorder |
4 |
2509 |
|
ORM003 |
Oromandibular-Limb Anomalies Syndrome |
4 |
2510 |
|
GRN058 |
Granulomatous Autoinflammatory Syndrome |
4 |
2511 |
|
ACQ063 |
Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue |
4 |
2512 |
|
DSR053 |
Disorder of Fatty Acid Oxidation and Ketogenesis |
4 |
2513 |
|
PRR043 |
Pure or Complex X-Linked Spastic Paraplegia |
4 |
2514 |
|
GNT169 |
Genetic Corneal Dystrophy |
4 |
2515 |
|
LMR002 |
Le Marec Bracq Picaud Syndrome |
4 |
2516 |
|
SYN138 |
Syndromic Hair Shaft Abnormality |
4 |
2517 |
|
KLH008 |
Klhl7-Related Disorder |
4 |
2518 |
c
|
SYN028 |
Syngnathia Multiple Anomalies |
4 |
2519 |
|
CNG594 |
Congenital Thyroid Malformation Without Hypothyroidism |
4 |
2520 |
|
RMM001 |
Rommen Mueller Sybert Syndrome |
4 |
2521 |
|
OTM003 |
Otomandibular Dysplasia Associated with Monogenic Syndromes |
4 |
2522 |
|
SXC005 |
Sex-Chromosome Number Anomaly |
4 |
2523 |
P
|
GNT114 |
Genetic Cardiac Anomaly |
4 |
2524 |
P
|
NCL007 |
Nuclear Gene-Encoded Leigh Syndrome |
4 |
2525 |
|
CNG316 |
Congenital Vertical Talus, Bilateral |
4 |
2526 |
|
VRT005 |
Vertebral Body Fusion Overgrowth |
4 |
2527 |
|
SYN125 |
Syndromic Vitreoretinopathy |
4 |
2528 |
|
GNT130 |
Genetic Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability |
4 |
2529 |
|
SYN161 |
Syndromic Visceral Malformation |
4 |
2530 |
|
PFF006 |
Pfeiffer Tietze Welte Syndrome |
4 |
2531 |
|
INH028 |
Inherited Non-Syndromic Ichthyosis |
4 |
2532 |
|
MCR187 |
Macrodactyly of Fingers, Bilateral |
4 |
2533 |
|
EPL256 |
Epilepsy and/or Ataxia with Myoclonus As a Major Feature |
4 |
2534 |
|
SYN159 |
Syndromic Diaphragmatic or Abdominal Wall Malformation |
4 |
2535 |
|
4HY001 |
4-Hydroxyphenylacetic Aciduria |
3 |
2536 |
c
|
CHR251 |
Chromosome 5, Uniparental Disomy |
3 |
2537 |
c
|
CLR027 |
Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules |
3 |
2538 |
|
10Q003 |
10q22.3q23 Microdeletion Syndrome |
3 |
2539 |
|
HLC002 |
Holoacardius Amorphus |
3 |
2540 |
|
MLF004 |
Malformation Syndrome with Odontal and/or Periodontal Component |
3 |
2541 |
c
|
CHR201 |
Chromosome 16, Uniparental Disomy |
3 |
2542 |
|
PRT104 |
Protein S Acquired Deficiency |
3 |
2543 |
|
GNT090 |
Genetic Dermis Disorder |
3 |
2544 |
|
GNT070 |
Genetic Malformation Syndrome with Short Stature |
3 |
2545 |
|
NNS060 |
Non-Syndromic Polydactyly, Syndactyly and/or Hyperphalangy |
3 |
2546 |
|
ATN018 |
Autoinflammatory Syndrome of Childhood |
3 |
2547 |
c
|
46X071 |
46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect |
3 |
2548 |
|
MTC186 |
Mitochondrial Protein Import Disorder |
3 |
2549 |
|
ECT112 |
Ectrodactyly with and Without Other Manifestations |
3 |
2550 |
|
MSM021 |
Mesomelic and Rhizo-Mesomelic Dysplasia |
3 |
2551 |
|
SYN142 |
Syndrome with Synostosis or Other Joint Formation Defect |
3 |
2552 |
|
MLT176 |
Multiple Polyglandular Tumor |
3 |
2553 |
c
|
FXG003 |
Foxg1 Syndrome Due to Intragenic Alteration |
3 |
2554 |
c
|
HYD017 |
Hydrocephalus Autosomal Recessive |
3 |
2555 |
c
|
MCR059 |
Microcephaly with Chorioretinopathy, Autosomal Dominant Form |
3 |
2556 |
|
MCR075 |
Microphthalmia Associated with Colobomatous Cyst |
3 |
2557 |
|
AML010 |
Amelogenesis Imperfecta Pigmented Hypomaturation Type |
3 |
2558 |
|
OVR067 |
Ouvrier Billson Syndrome |
3 |
2559 |
|
CRT030 |
Cortes Lacassie Syndrome |
3 |
2560 |
|
AND005 |
Androgen Insensitivity Syndrome, Mild |
3 |
2561 |
|
ABD006 |
Abdominal Chemodectomas with Cutaneous Angiolipomas |
3 |
2562 |
|
DKR001 |
Duker Weiss Siber Syndrome |
3 |
2563 |
|
CRN053 |
Carnevale Hernandez Castillo Syndrome |
3 |
2564 |
|
GNT075 |
Genetic Cranial Malformation |
3 |
2565 |
|
CHR217 |
Chromosome 19q Deletion |
3 |
2566 |
|
CMP023 |
Camptodactyly Vertebral Fusion |
3 |
2567 |
|
GRN053 |
Grin2b Related Syndrome |
3 |
2568 |
|
CRT027 |
Cartwright Nelson Fryns Syndrome |
3 |
2569 |
|
CTL002 |
Cutler Bass Romshe Syndrome |
3 |
2570 |
|
CNJ015 |
Conjunctivitis with Pseudomembrane |
3 |
2571 |
|
CHN032 |
Chondrodysplasia Punctata, Humero-Metacarpal Type |
3 |
2572 |
|
GNT183 |
Genetic Systemic Disease with Glomerulopathy As a Major Feature |
3 |
2573 |
|
CFF004 |
Coffin Syndrome 1 |
3 |
2574 |
|
PFF005 |
Pfeiffer Rockelein Syndrome |
3 |
2575 |
|
ATS443 |
Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities |
3 |
2576 |
|
RCH008 |
Richieri-Costa Guion-Almeida Cohen Syndrome |
3 |
2577 |
|
DND012 |
Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia |
3 |
2578 |
|
SGM003 |
Segmentation Syndrome 1 |
3 |
2579 |
|
SWN002 |
Seow Najjar Syndrome |
3 |
2580 |
|
NNP020 |
Non Progressive Epilepsy and/or Ataxia with Myoclonus As a Major Feature |
3 |
2581 |
|
CNG054 |
Congenital Aneurysms of the Great Vessels |
3 |
2582 |
|
FNG007 |
Feingold Trainer Syndrome |
3 |
2583 |
|
DSR087 |
Disorder with Multisystemic Involvement and Glomerulopathy |
3 |
2584 |
|
HML017 |
Hemolytic Uremic Syndrome, Atypical, Childhood |
3 |
2585 |
|
HYP222 |
Hypoplasia of the Tibia with Polydactyly |
3 |
2586 |
|
MNC012 |
Minicore Myopathy, Antenatal Onset, with Arthrogryposis |
3 |
2587 |
|
DSR028 |
Disorder of Magnesium Transport |
3 |
2588 |
|
HST023 |
Histiocytic and Dendritic Cell Tumor |
3 |
2589 |
|
GLL023 |
Gollop Coates Syndrome |
3 |
2590 |
|
PRS060 |
Prostatic Malacoplakia Associated with Prostatic Abscess |
3 |
2591 |
|
CRN312 |
Craniofacial Anomaly with Cataract |
3 |
2592 |
|
ZZM001 |
Zazam Sheriff Phillips Syndrome |
3 |
2593 |
c
|
GNT135 |
Genetic 46,xy Disorder of Sex Development |
3 |
2594 |
|
MTC187 |
Mitochondrial Oxidative Phosphorylation Disorder with No Known Mechanism |
3 |
2595 |
|
DSR043 |
Disorder of O-Xylosylglycan Synthesis |
3 |
2596 |
|
NNS098 |
Non-Syndromic Anorectal Malformation with Rectovaginal Fistula |
3 |
2597 |
|
HYG001 |
Hygroma Cervical |
3 |
2598 |
|
ZRR001 |
Zerres Rietschel Majewski Syndrome |
3 |
2599 |
|
ISL152 |
Isolated Congenital Hypoglossia |
3 |
2600 |
|
PRM055 |
Primary Tubular Proximal Acidosis |
3 |
2601 |
|
GNT149 |
Genetic Syndrome with Limb Malformations As a Major Feature |
3 |
2602 |
|
QLT035 |
Qualitative or Quantitative Defects of Alpha-Actin |
3 |
2603 |
|
DNT052 |
Dentocutaneous Disease with Cataract |
3 |
2604 |
|
GNT055 |
Genetic Susceptibility to Infections Due to Particular Pathogens |
3 |
2605 |
|
KZL003 |
Kozlowski Ouvrier Syndrome |
3 |
2606 |
|
EXC006 |
Excess Breast Volume or Number |
3 |
2607 |
c
|
HMN045 |
Human Herpesvirus 8-Related Disorder |
3 |
2608 |
|
PRR037 |
Pierre Robin Syndrome Associated with a Chromosomal Anomaly |
3 |
2609 |
|
LTR016 |
Letrozole Toxicity |
3 |
2610 |
|
AMN004 |
Aminoacylase Deficiency |
3 |
2611 |
|
PRR039 |
Pierre Robin Syndrome Associated with Branchial Archs Anomalies |
3 |
2612 |
|
SYN115 |
Syndromic Agammaglobulinemia |
3 |
2613 |
|
OTH022 |
Other Dermis Disorder |
3 |
2614 |
|
CNG561 |
Congenital Vitamin K-Dependent Coagulation Factors Deficiency |
3 |
2615 |
|
QLT020 |
Qualitative or Quantitative Defects of Perlecan |
3 |
2616 |
|
QLT005 |
Qualitative or Quantitative Defects of Integrin Alpha-7 |
3 |
2617 |
|
ADL098 |
Adolescent-Onset Epilepsy Syndrome |
3 |
2618 |
|
RLP007 |
Relapsing Epidemic Typhus |
3 |
2619 |
|
GNT150 |
Genetic Syndrome with Limb Reduction Defects |
3 |
2620 |
|
NNS102 |
Non-Syndromic Anorectal Malformation with Rectal Atresia |
3 |
2621 |
|
MLF007 |
Malformation Syndrome with Hamartosis |
3 |
2622 |
c
|
GNT132 |
Genetic 46,xx Disorder of Sex Development |
3 |
2623 |
|
ACT173 |
Acute Poisoning by Drugs with Membrane-Stabilizing Effect |
3 |
2624 |
|
ATS440 |
Autosomal Ichthyosis Syndrome with Other Associated Signs |
3 |
2625 |
|
NNS051 |
Non-Syndromic Urogenital Tract Malformation of Male |
3 |
2626 |
|
NNS069 |
Non-Syndromic Esophageal Malformation |
3 |
2627 |
|
PRR036 |
Pierre Robin Syndrome Associated with Collagen Disease |
3 |
2628 |
|
NNS099 |
Non-Syndromic Anorectal Malformation with H-Type Fistula |
3 |
2629 |
|
INF179 |
Infectious, Fungal or Parasitic Myopathy |
3 |
2630 |
|
NNS105 |
Non-Syndromic Anorectal Malformation with Vestibular Fistula |
3 |
2631 |
|
DSR047 |
Disorder of Fucoglycosan Synthesis |
3 |
2632 |
c
|
CHR232 |
Chromosome 21, Uniparental Disomy |
3 |
2633 |
c
|
SJG004 |
Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease |
3 |
2634 |
|
DHD002 |
Dhdds-Cdg |
3 |
2635 |
|
FRN025 |
Frontonasal Dysplasia Klippel Feil Syndrome |
2 |
2636 |
|
CLF054 |
Cleft Palate, Cardiac Defects, and Intellectual Disability |
2 |
2637 |
|
MCR069 |
Microcornea Corectopia Macular Hypoplasia |
2 |
2638 |
|
46X005 |
46,xx Gonadal Dysgenesis Epibulbar Dermoid |
2 |
2639 |
|
CMB010 |
Combarros Calleja Leno Syndrome |
2 |
2640 |
|
BBY001 |
Baby Rattle Pelvic Dysplasia |
2 |
2641 |
|
HMN020 |
Human Spumaretrovirus Infection |
2 |
2642 |
|
GNT101 |
Genetic Endocrine Growth Disease |
2 |
2643 |
|
JNS004 |
Jeune Syndrome Situs Inversus |
2 |
2644 |
|
GMP001 |
Gmppa-Cdg |
2 |
2645 |
|
ARB002 |
Aerobic Actinomyces Infection |
2 |
2646 |
|
FRN015 |
Franceschini Vardeu Guala Syndrome |
2 |
2647 |
|
BLP007 |
Blepharo Naso Facial Syndrome Van Maldergem Type |
2 |
2648 |
|
CRB054 |
Cerebellar Astrocytoma, Childhood |
2 |
2649 |
|
HTC001 |
Hutchinson Incisors |
2 |
2650 |
|
GNT111 |
Genetic Cardiac Tumor |
2 |
2651 |
|
MCR054 |
Microcephaly Microphthalmos Blindness |
2 |
2652 |
|
KNG002 |
Kingella Infections |
2 |
2653 |
|
NNL003 |
Non-Lissencephalic Cortical Dysplasia |
2 |
2654 |
|
PRX098 |
Peroxisomal Disease with Epilepsy |
2 |
2655 |
|
PSD042 |
Pseudopapilledema Blepharophimosis Hand Anomalies |
2 |
2656 |
|
HYP158 |
Hyperinsulinism, Diffuse |
2 |
2657 |
|
LTH006 |
Lethal Chondrodysplasia Seller Type |
2 |
2658 |
|
WNT001 |
Winter Harding Hyde Syndrome |
2 |
2659 |
|
JVN037 |
Juvenile-Onset Small-Fiber Polyneuropathy |
2 |
2660 |
|
PRX087 |
Paroxysomal Nonkinesigenic Dyskinesia |
2 |
2661 |
|
ADS005 |
Aids Dysmorphic Syndrome |
2 |
2662 |
|
QLT036 |
Qualitative or Quantitative Defects of Protein O-Mannose Beta1,2n-Acetylglucosaminyltransferase |
2 |
2663 |
|
HMG011 |
Hmg Coa Synthetase Deficiency |
2 |
2664 |
|
RDL009 |
Radial Ray Agenesis |
2 |
2665 |
|
SLW002 |
Saul Wilkes Stevenson Syndrome |
2 |
2666 |
|
ACQ060 |
Acquired Peripheral Movement Disorder |
2 |
2667 |
|
XLN254 |
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadripare |
2 |
2668 |
|
SNG001 |
Singh Chhaparwal Dhanda Syndrome |
2 |
2669 |
|
RNR001 |
Renier Gabreels Jasper Syndrome |
2 |
2670 |
|
GNT170 |
Genetic Superficial Corneal Dystrophy |
2 |
2671 |
|
DYS205 |
Dysostosis of Genetic Origin |
2 |
2672 |
|
THD001 |
Theodor Hertz Goodman Syndrome |
2 |
2673 |
|
WLB001 |
Walbaum Titran Durieux Crepin Syndrome |
2 |
2674 |
|
ISL162 |
Isolated Female Hypospadias |
2 |
2675 |
|
MRT005 |
Maroteaux Stanescu Cousin Syndrome |
2 |
2676 |
|
GNT086 |
Genetic Subcutaneous Tissue Disorder |
2 |
2677 |
|
BRN047 |
Barnicoat Baraitser Syndrome |
2 |
2678 |
|
NNS052 |
Non-Syndromic Urogenital Tract Malformation of Male and Female |
2 |
2679 |
|
SMN009 |
Simian B Virus Infection |
2 |
2680 |
|
UNX004 |
Unexplained Periodic Fever Syndrome of Childhood |
2 |
2681 |
|
SLV009 |
Slavotinek Pike Mills Hurst Syndrome |
2 |
2682 |
|
GNT147 |
Genetic Otorhinolaryngologic Disease |
2 |
2683 |
|
GNT035 |
Genetic Hair Anomaly |
2 |
2684 |
|
GNT190 |
Genetic Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability |
2 |
2685 |
|
EPS045 |
Epstein-Barr Virus-Associated Mesenchymal Tumor |
2 |
2686 |
|
AVS007 |
Avascular Necrosis of Genetic Origin |
2 |
2687 |
|
CNS014 |
Constitutional Deficiency Anemia |
2 |
2688 |
|
MRP003 |
Marphanoid Syndrome Type De Silva |
2 |
2689 |
|
FNT001 |
Fenton Wilkinson Toselano Syndrome |
2 |
2690 |
|
GNT036 |
Genetic Urticaria |
2 |
2691 |
|
VSQ001 |
Vasquez Hurst Sotos Syndrome |
2 |
2692 |
|
GNT112 |
Genetic Soft Tissue Tumor |
2 |
2693 |
|
PSD038 |
Pseudomonas Stutzeri Infections |
2 |
2694 |
|
GNT155 |
Genetic Precocious Puberty |
2 |
2695 |
|
GNT160 |
Genetic Facial Cleft |
2 |
2696 |
|
SCR021 |
Sacral Hemangiomas Multiple Congenital Abnormalities |
2 |
2697 |
|
XCH003 |
X Chromosome Number Anomaly with Female Phenotype |
2 |
2698 |
|
GNT158 |
Genetic Otorhinolaryngological Malformation |
2 |
2699 |
|
SYN098 |
Syndromic Diaphragmatic or Thoracic Malformation |
2 |
2700 |
|
SLN003 |
Silengo Lerone Pelizza Syndrome |
2 |
2701 |
|
GNT171 |
Genetic Primary Orthostatic Disorder |
2 |
2702 |
|
CHR693 |
Chromosomal Disease with Overgrowth |
2 |
2703 |
|
MTL006 |
Metal Transport or Utilization Disorder with Epilepsy |
2 |
2704 |
|
TNG005 |
Tang Hsi Ryu Syndrome |
2 |
2705 |
|
NNG004 |
Non-Genetic Systemic Disease with Glomerulopathy As a Major Feature |
2 |
2706 |
|
FCT036 |
Factor V Amsterdam Bleeding Disorder |
2 |
2707 |
|
CHN076 |
Channelopathy with Epilepsy |
2 |
2708 |
|
SYN107 |
Syndrome or Malformation Associated with Head and Neck Malformations |
2 |
2709 |
|
GNT134 |
Genetic 46,xy Disorder of Sex Development of Endocrine Origin |
2 |
2710 |
|
CMB113 |
Combined Deficiency of Factor Vii and Factor X |
2 |
2711 |
|
CHN033 |
Chondrodysplasia Situs Inversus Imperforate Anus Polydactyly |
1 |
2712 |
|
CNN006 |
Cennamo Gangemi Syndrome |
1 |
2713 |
|
CRS004 |
Coarse Face Hypotonia Constipation |
1 |
2714 |
|
CHR236 |
Chromosome 22q Duplication |
1 |
2715 |
|
CYT003 |
Cytokine Receptor Deficiency |
1 |
2716 |
|
CRN081 |
Craniofacial Dysostosis Arthrogryposis Progeroid Appearence |
1 |
2717 |
|
FTL008 |
Fatal Infantile Encephalomyopathy |
1 |
2718 |
|
CSS001 |
Cassavism |
1 |
2719 |
|
OCL038 |
Oculodentoosseous Dysplasia Recessive |
1 |
2720 |
|
ANK005 |
Ankyloblepharon Filiforme Imperforate Anus |
1 |
2721 |
|
CNG098 |
Congenital Heart Disease Ptosis Hypodontia Craniostosis |
1 |
2722 |
|
CHR460 |
Chromosome Xq Deletion |
1 |
2723 |
|
DLT004 |
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency |
1 |
2724 |
|
ATS014 |
Autism with Port-Wine Stain |
1 |
2725 |
|
GRP002 |
Group B Strep Disease in Newborns |
1 |
2726 |
|
CHR215 |
Chromosome 19p Deletion |
1 |
2727 |
|
NNS048 |
Non-Syndromic Diaphragmatic or Thoracic Malformation |
1 |
2728 |
|
CHR459 |
Chromosome Xp Deletion |
1 |
2729 |
c
|
QLT006 |
Qualitative or Quantitative Defects of Gamma-Sarcoglycan |
1 |
2730 |
|
GNT061 |
Genetic Lens and Zonula Anomaly |
1 |
2731 |
|
DST015 |
Distichiasis Heart Congenital Anomalies |
1 |
2732 |
|
MRG004 |
Marginal Glioneuronal Heterotopia |
1 |
2733 |
|
GNT089 |
Genetic Mixed Dermis Disorder |
1 |
2734 |
|
DSM009 |
Die Smulders Vles Fryns Syndrome |
1 |
2735 |
|
GNT127 |
Genetic Hyperparathyroidism |
1 |
2736 |
|
FML365 |
Familiar or Sporadic Hemiplegic Migraine |
1 |
2737 |
|
QLT015 |
Qualitative or Quantitative Defects of Fkrp |
1 |
2738 |
|
DBL006 |
Double Nails on the Fifth Toe |
1 |
2739 |
|
QLT017 |
Qualitative or Quantitative Defects of Myotubularin |
1 |
2740 |
|
CLF012 |
Cleft Lip Palate Pituitary Deficiency |
1 |
2741 |
|
GNT122 |
Genetic Posterior Fossa Malformation |
1 |
2742 |
|
INF042 |
Infant Epilepsy with Migrant Focal Crisis |
1 |
2743 |
P
|
QLT037 |
Qualitative or Quantitative Defects of Protein O-Mannosyltransferase 1 |
1 |
2744 |
|
FML351 |
Familiar Chronic Mucocutaneous Candidiasis |
1 |
2745 |
|
QLT022 |
Qualitative or Quantitative Defects of Emerin |
1 |
2746 |
|
GNT102 |
Genetic Urogenital Tract Malformation |
1 |
2747 |
|
QLT032 |
Qualitative or Quantitative Defects of Telethonin |
1 |
2748 |
|
GNT057 |
Genetic Polyendocrinopathy |
1 |
2749 |
|
ANM073 |
Anomaly of Puberty or/and Menstrual Cycle of Genetic Origin |
1 |
2750 |
|
SRP006 |
Serpinopathy with Toxic Serpin Polymerization |
1 |
2751 |
|
LMN010 |
Laminopathy with Premature Aging |
1 |
2752 |
|
GNT106 |
Genetic Polycythemia |
1 |
2753 |
|
QLT029 |
Qualitative or Quantitative Defects of Desmin |
1 |
2754 |
|
GRX001 |
Grix Blankenship Peterson Syndrome |
1 |
2755 |
|
QLT033 |
Qualitative or Quantitative Defects of Titin |
1 |
2756 |
|
CLF017 |
Cleft Palate Heart Disease Polydactyly Absent Tibia |
1 |
2757 |
c
|
QLT012 |
Qualitative or Quantitative Defects of Alpha-Sarcoglycan |
1 |
2758 |
|
NCT005 |
N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii |
1 |
2759 |
|
QLT039 |
Qualitative or Quantitative Defects of Myofibrillar Proteins |
1 |
2760 |
|
GRN054 |
Grin1-Associated Disorders |
1 |
2761 |
|
GRN057 |
Granulomatous Autoinflammatory Syndrome of Childhood |
1 |
2762 |
|
QLT014 |
Qualitative or Quantitative Defects of Fukutin |
1 |
2763 |
|
DYS204 |
Dysostosis of Genetic Origin with Limb Anomaly As a Major Feature |
1 |
2764 |
|
GNT066 |
Genetic Malformation Syndrome with Odontal and/or Periodontal Component |
1 |
2765 |
|
SYN131 |
Syndromic Genetic Keratoconus |
1 |
2766 |
|
GNT185 |
Genetic Syndrome with a Cerebellar Malformation As a Major Feature |
1 |
2767 |
|
OTH018 |
Other Genetic Dermis Disorder |
1 |
2768 |
|
GNT116 |
Genetic Urogenital Tumor |
1 |
2769 |
|
LPD013 |
Lipidosis with Triglycerid Storage Disease |
1 |
2770 |
|
TYR006 |
Tyrosine-Oxidase Temporary Deficiency |
1 |
2771 |
|
NVS014 |
Nevus Mucinosis |
1 |
2772 |
|
SCK007 |
Seckel Like Syndrome Majoor-Krakauer Type |
1 |
2773 |
c
|
QLT040 |
Qualitative or Quantitative Defects of Protein O-Mannosyltransferase 2 |
1 |
2774 |
|
QLT019 |
Qualitative or Quantitative Defects of Calpain |
1 |
2775 |
|
GNT186 |
Genetic Syndrome with a Dandy-Walker Malformation As a Major Feature |
1 |
2776 |
|
QLT025 |
Qualitative or Quantitative Defects of Protein Serca1 |
1 |
2777 |
|
GNT067 |
Genetic Head and Neck Malformation |
1 |
2778 |
|
QLT018 |
Qualitative or Quantitative Defects of Trim32 |
1 |
2779 |
|
GNT099 |
Genetic Nail Anomaly |
1 |
2780 |
|
GNT119 |
Genetic Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature |
1 |
2781 |
|
GNT139 |
Genetic Intractable Diarrhea of Infancy |
1 |
2782 |
|
QLT028 |
Qualitative or Quantitative Defects of Alphab-Cristallin |
1 |
2783 |
|
GNT123 |
Genetic Cerebellar Malformation |
1 |
2784 |
|
QLT026 |
Qualitative or Quantitative Defects of Glucosamine -2-Epimerase/n-Acetylmannosamine Kinase - |
1 |
2785 |
|
GNT096 |
Genetic Porokeratosis |
1 |
2786 |
|
EXT066 |
Extragonadal Non-Dysgerminomatous Germ Cell Tumor |
1 |
2787 |
|
QLT023 |
Qualitative or Quantitative Defects of Selenoprotein N1 |
1 |
2788 |
|
QLT024 |
Qualitative or Quantitative Defects of Plectin |
1 |
2789 |
|
GNT144 |
Genetic Primary Orthostatic Hypotension |
1 |
2790 |
|
QLT030 |
Qualitative or Quantitative Defects of Protein Zasp |
1 |
2791 |
|
QLT021 |
Qualitative or Quantitative Defects of Beta-Myosin Heavy Chain |
1 |
2792 |
|
QLT034 |
Qualitative or Quantitative Defects of Nebulin |
1 |
2793 |
|
SRP008 |
Serpinopathy with Loss of Serpin Function |
1 |
2794 |
|
UNC022 |
Unclassified Autoinflammatory Syndrome of Childhood |
1 |
2795 |
|
PYG008 |
Pyogenic Autoinflammatory Syndrome of Childhood |
1 |
2796 |
|
QLT043 |
Qualitative or Quantitative Defects of Tropomyosin |
1 |
2797 |
|
GNT151 |
Genetic Syndromic Esophageal Malformation |
1 |
2798 |
|
TYP043 |
Type 1 Interferonopathy of Childhood |
1 |
2799 |
|
QLT031 |
Qualitative or Quantitative Defects of Filamin C |
1 |
2800 |
|
QLT038 |
Qualitative or Quantitative Defects of Protein Glycosyltransferase-Like |
1 |
2801 |
|
GNT141 |
Genetic Syndromic Pierre Robin Syndrome |
1 |
2802 |
|
LNS006 |
Lens Size Anomaly of Genetic Origin |
1 |
2803 |
|
BLG001 |
Biological Anomaly Without Phenotypic Characterization |
1 |
2804 |
|
SYN133 |
Syndromic Genetic Cataract |
1 |
2805 |
|
LCR015 |
Lacrimal Drainage System Anomaly of Genetic Origin |
1 |
2806 |
|
NNG003 |
Non-Genetic Cardiac Rhythm Disease |
1 |
2807 |
|
LMN008 |
Laminopathy with Lipodystrophy |
1 |
2808 |
|
QLT044 |
Qualitative or Quantitative Defects of Torsin-1a-Interacting Protein 1 |
1 |
2809 |
|
GNT159 |
Genetic Tracheal Anomaly |
1 |
2810 |
|
QLT042 |
Qualitative or Quantitative Defects of Troponin |
1 |
2811 |
|
SYN132 |
Syndromic Genetic Ectopia Lentis |
1 |
2812 |
|
SCN084 |
Secondary Early-Onset Glaucoma of Genetic Origin |
1 |
2813 |
|
SYN134 |
Syndromic Genetic Disorder with Strabismus |
1 |
2814 |
|
GNT154 |
Genetic Precocious Puberty in Female |
1 |
2815 |
|
LNS005 |
Lens Position Anomaly of Genetic Origin |
1 |
2816 |
|
CHN030 |
Chondrodysplasia Punctata Sheffield Type |
1 |
2817 |
|
BRC021 |
Brachydactyly Absence of Distal Phalanges |
1 |
2818 |
|
CHR234 |
Chromosome 21q Duplication |
1 |
2819 |
|
CHR173 |
Christian Johnson Angenieta Syndrome |
1 |
2820 |
|
BRC030 |
Brachydactyly Tibial Hypoplasia |
1 |
2821 |
|
BRC029 |
Brachydactyly Small Stature Face Anomalies |
1 |
2822 |
|
BRN054 |
Bronchiectasis Oligospermia |
1 |
2823 |
|
CNT054 |
Cantu Sanchez-Corona Garcia-Cruz Syndrome |
1 |
2824 |
|
CHR186 |
Chromosome 11p Duplication |
1 |
2825 |
|
15Q006 |
15q13.3 Microduplication Syndrome |
1 |
2826 |
|
CLF013 |
Cleft Lip Palate-Tetraphocomelia |
1 |
2827 |
|
CHR237 |
Chromosome 2p Deletion |
1 |
2828 |
|
CRB067 |
Cerebral Calcification Cerebellar Hypoplasia |
1 |
2829 |
|
CHR172 |
Christian Demyer Franken Syndrome |
1 |
2830 |
|
CNZ002 |
Coenzyme Q Cytochrome C Reductase Deficiency of |
1 |
2831 |
|
AMY011 |
Amyloidosis Bronchopulmonary |
1 |
2832 |
|
CLV006 |
Colver Steer Godman Syndrome |
1 |
2833 |
|
BRN059 |
Burn Goodship Syndrome |
1 |
2834 |
|
CLB013 |
Coloboma Porencephaly Hydronephrosis |
1 |
2835 |
|
CHR513 |
Chromosome 15q25.2 Microdeletion |
1 |
2836 |
|
CHN031 |
Chondrodysplasia Punctata with Steroid Sulfatase Deficiency |
1 |
2837 |
|
BRY002 |
Bruyn Scheltens Syndrome |
1 |
2838 |
|
CLL023 |
Collins Sakati Syndrome |
1 |
2839 |
|
DBT016 |
Diabetes Persistent Mullerian Ducts |
1 |
2840 |
|
CNG103 |
Congenital Hypotrichosis Milia |
1 |
2841 |
|
CLF009 |
Cleft Lip Palate Dysmorphism Kumar Type |
1 |
2842 |
|
CND032 |
Condrodisplasia Punctata Rizomélica |
1 |
2843 |
|
CRP015 |
Corpus Callosum Dysgenesis X-Linked Recessive |
1 |
2844 |
|
CHR166 |
Choreoacanthocytosis Amyotrophic |
1 |
2845 |
|
CHR231 |
Chromosome 20q Duplication |
1 |
2846 |
|
CRN098 |
Craniosynostosis Maroteaux Fonfria Type |
1 |
2847 |
|
CNG066 |
Congenital Craniosynostosis Maternal Hyperthyroiditis |
1 |
2848 |
|
DPL006 |
Duplication of the Thumb Unilateral Biphalangeal |
1 |
2849 |
|
CHR191 |
Chromosome 12q Deletion |
1 |
2850 |
|
CNG126 |
Congenital Stenosis of Cervical Medullary Canal |
1 |
2851 |
|
CHR216 |
Chromosome 19p Duplication |
1 |
2852 |
|
CNG059 |
Congenital Arteriovenous Shunt |
1 |
2853 |
|
CRC011 |
Circumscribed Disseminated Keratosis Jadassohn Lew Type |
1 |
2854 |
|
FGN002 |
Feigenbaum Bergeron Syndrome |
1 |
2855 |
|
DBL005 |
Double Fingernail of Fifth Finger |
1 |
2856 |
|
ENM003 |
Enamel Hypoplasia Cataract Hydrocephaly |
1 |
2857 |
|
CRN089 |
Craniostenosis Cataract |
1 |
2858 |
|
CRN096 |
Craniosynostosis Exostoses Nevus Epibulbar Dermoid |
1 |
2859 |
|
CRT029 |
Cortada Koussef Matsumoto Syndrome |
1 |
2860 |
|
CRN085 |
Craniofrontonasal Syndrome Teebi Type |
1 |
2861 |
|
CNG132 |
Congenital Vagal Hyperreflexivity |
1 |
2862 |
|
MLP002 |
Male Pseudohermaphroditism Due to Defective Lh Molecule |
1 |
2863 |
|
DSM008 |
Die Smulders Droog Van Dijk Syndrome |
1 |
2864 |
|
GTT003 |
Gait Ataxia with Late Onset Polyneuropathy Syndrome |
1 |
2865 |
|
CNG444 |
Congenital Myxovirus |
1 |
2866 |
|
FBL007 |
Fibular Hypoplasia Scapulo Pelvic Dysplasia Absent |
1 |
2867 |
|
CLF014 |
Cleft Lower Lip Cleft Lateral Canthi Chorioretinal |
1 |
2868 |
|
HYP148 |
Hypercalcinuria Macular Coloboma |
1 |
2869 |
|
CLF011 |
Cleft Lip Palate Oligodontia Syndactyly Pili Torti |
1 |
2870 |
|
NMR001 |
Numeric Sex Chromosome Variations |
1 |
2871 |
|
ECC009 |
Eccentrochondrodyspl |