# |
Family |
MCID |
Name |
MIFTS |
1 |
c
|
PLM022 |
Pulmonary Valve Insufficiency |
41 |
2 |
|
PLM041 |
Pulmonary Valve Stenosis |
51 |
3 |
P
|
PLM037 |
Pulmonary Hypertension |
73 |
4 |
|
MYP153 |
Myopathy, Myofibrillar, 9, with Early Respiratory Failure |
54 |
5 |
|
PRG008 |
Paragonimiasis |
36 |
6 |
|
PLM070 |
Pulmonic Stenosis |
58 |
7 |
|
MYP093 |
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset |
46 |
8 |
c
|
SRF008 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
32 |
9 |
|
PNT054 |
Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal |
27 |
10 |
P
|
TTR001 |
Tetralogy of Fallot |
70 |
11 |
c
|
TTR026 |
Tetralogy of Fallot Syndrome, Autosomal Recessive |
7 |
12 |
c
|
SRF007 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
26 |
13 |
|
PRS030 |
Persistent Fetal Circulation Syndrome |
49 |
14 |
c
|
PLM170 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
45 |
15 |
|
PLM151 |
Pulmonary Arteriovenous Fistulas |
34 |
16 |
c
|
TTR029 |
Tetraamelia Syndrome 2 |
25 |
17 |
|
RSP002 |
Respiratory Syncytial Virus Infectious Disease |
58 |
18 |
|
ABS016 |
Absence of the Pulmonary Artery |
27 |
19 |
|
PLM067 |
Pulmonary Valves Agenesis |
22 |
20 |
|
PRP101 |
Peripheral Pulmonary Stenosis |
22 |
21 |
|
CHL146 |
Chloramine T Respiratory Allergy |
11 |
22 |
P
|
PLM175 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 |
51 |
23 |
c
|
PLM139 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 |
33 |
24 |
P
|
CNG042 |
Congenital Central Hypoventilation Syndrome |
67 |
25 |
|
CNT061 |
Conotruncal Heart Malformations |
65 |
26 |
c
|
CNT119 |
Central Hypoventilation Syndrome, Congenital, 1 |
62 |
27 |
|
INH001 |
Inhalation Anthrax |
44 |
28 |
|
GLB024 |
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor |
37 |
29 |
|
LNG105 |
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome |
32 |
30 |
|
PLM124 |
Pulmonary Hypertension, Neonatal |
20 |
31 |
P
|
MTC133 |
Mitochondrial Myopathy |
51 |
32 |
c
|
MTC116 |
Mitochondrial Myopathy, Infantile, Transient |
44 |
33 |
c
|
PLM150 |
Pulmonary Alveolar Proteinosis, Acquired |
43 |
34 |
c
|
PLM143 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 |
35 |
35 |
|
PLM058 |
Pulmonary Atresia with Intact Ventricular Septum |
30 |
36 |
|
PLM061 |
Pulmonary Edema of Mountaineers |
26 |
37 |
|
PLM068 |
Pulmonary Vein Stenosis |
25 |
38 |
c
|
PLM202 |
Pulmonary Hypertension, Primary, 5 |
21 |
39 |
c
|
CNG121 |
Congenital Pulmonary Alveolar Proteinosis |
15 |
40 |
|
LGN006 |
Legionnaire Disease |
59 |
41 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
53 |
42 |
c
|
PNT057 |
Pontocerebellar Hypoplasia, Type 1e |
52 |
43 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
50 |
44 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
49 |
45 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
48 |
46 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
47 |
47 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
48 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
46 |
49 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
45 |
50 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
44 |
51 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
44 |
52 |
c
|
MCR212 |
Microphthalmia, Syndromic 12 |
42 |
53 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
41 |
54 |
|
CMB014 |
Combined Oxidative Phosphorylation Deficiency 3 |
38 |
55 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
38 |
56 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
57 |
c
|
PNT053 |
Pontocerebellar Hypoplasia, Type 13 |
35 |
58 |
c
|
PLM121 |
Pulmonary Hypertension, Primary, 4 |
35 |
59 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
34 |
60 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
34 |
61 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
34 |
62 |
c
|
PNT059 |
Pontocerebellar Hypoplasia, Type 16 |
31 |
63 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
30 |
64 |
c
|
PNT056 |
Pontocerebellar Hypoplasia, Type 15 |
29 |
65 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
28 |
66 |
c
|
PNT055 |
Pontocerebellar Hypoplasia, Type 14 |
26 |
67 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
22 |
68 |
c
|
PNT058 |
Pontocerebellar Hypoplasia, Type 1f |
21 |
69 |
|
IMM271 |
Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia |
21 |
70 |
c
|
PNT060 |
Pontocerebellar Hypoplasia, Type 17 |
21 |
71 |
|
PLM101 |
Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis |
15 |
72 |
|
RHM002 |
Rheumatic Pulmonary Valve Disease |
14 |
73 |
|
DBL002 |
Double Outlet Right Ventricle |
61 |
74 |
|
WTS001 |
Watson Syndrome |
30 |
75 |
|
BRT055 |
Breath-Holding Spells |
27 |
76 |
P
|
PLM064 |
Pulmonary Sequestration |
22 |
77 |
c
|
PLM200 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6 |
20 |
78 |
|
PLM157 |
Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome |
7 |
79 |
P
|
PTN014 |
Patent Ductus Arteriosus 1 |
59 |
80 |
|
SPR004 |
Supravalvular Aortic Stenosis |
54 |
81 |
|
MTC085 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
45 |
82 |
c
|
PLM127 |
Pulmonary Hypertension, Primary, 3 |
38 |
83 |
c
|
PLM128 |
Pulmonary Hypertension, Primary, 2 |
33 |
84 |
c
|
INT469 |
Interstitial Lung Disease 1 |
27 |
85 |
|
MYP164 |
Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies |
24 |
86 |
|
MCR304 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs |
20 |
87 |
|
HRM026 |
Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency |
18 |
88 |
|
ART027 |
Aorta-Pulmonary Artery Fistula |
17 |
89 |
|
PLM065 |
Pulmonary Supravalvular Stenosis |
16 |
90 |
|
HYP692 |
Hypersensitivity Pneumonitis, Familial |
15 |
91 |
|
CNG249 |
Congenital Pulmonary Venous Return Anomaly |
8 |
92 |
|
PLM024 |
Pulmonary Type Ovarian Small Cell Carcinoma |
6 |
93 |
P
|
SLP006 |
Sleep Apnea |
69 |
94 |
c
|
MLT068 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
46 |
95 |
c
|
MLT119 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
43 |
96 |
P
|
PLM040 |
Pulmonary Valve Disease |
40 |
97 |
P
|
MLT027 |
Multiple Mitochondrial Dysfunctions Syndrome |
40 |
98 |
c
|
MLT139 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
35 |
99 |
|
AML066 |
Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome |
32 |
100 |
|
PLM059 |
Pulmonary Atresia with Ventricular Septal Defect |
29 |
101 |
c
|
MLT151 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
25 |
102 |
c
|
CNG455 |
Congenital Aortopulmonary Window |
25 |
103 |
c
|
MLT167 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
24 |
104 |
P
|
ART034 |
Aortopulmonary Window |
22 |
105 |
|
PLM008 |
Pulmonary Subvalvular Stenosis |
21 |
106 |
|
CYS044 |
Cystic Disease of Lung |
15 |
107 |
|
PRQ001 |
Paraquat Lung |
13 |
108 |
|
RWL001 |
Rowley-Rosenberg Syndrome |
11 |
109 |
|
ENL012 |
Enolase Alpha, Lung-Specific |
11 |
110 |
c
|
ISC021 |
Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome |
9 |
111 |
|
DBL018 |
Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis |
9 |
112 |
|
KSH002 |
Kashani Strom Utley Syndrome |
7 |
113 |
|
DBL016 |
Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy |
6 |
114 |
|
HST011 |
Histoplasmosis |
54 |
115 |
|
HRT012 |
Heart Valve Disease |
52 |
116 |
P
|
OCL076 |
Oculopharyngodistal Myopathy 1 |
36 |
117 |
|
IMM221 |
Immunodeficiency 74, Covid19-Related, X-Linked |
25 |
118 |
P
|
BRY005 |
Beryllium Disease |
25 |
119 |
c
|
OCL084 |
Oculopharyngodistal Myopathy 3 |
23 |
120 |
c
|
RSP027 |
Respiratory Papillomatosis, Juvenile Recurrent, Congenital |
21 |
121 |
c
|
OCL085 |
Oculopharyngodistal Myopathy 4 |
21 |
122 |
c
|
OCL080 |
Oculopharyngodistal Myopathy 2 |
20 |
123 |
|
MYP160 |
Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures |
19 |
124 |
|
LNG101 |
Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome |
19 |
125 |
c
|
CNT121 |
Central Hypoventilation Syndrome, Congenital, 3 |
19 |
126 |
|
CNG351 |
Congenital Partial Pulmonary Venous Return Anomaly |
7 |
127 |
|
PLM119 |
Pulmonary Artery Coming from Patent Ductus Arteriosus |
6 |
128 |
|
PLM178 |
Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome |
6 |
129 |
|
PLM054 |
Pulmonary Artery Coming from the Aorta |
4 |
130 |
|
PLM066 |
Pulmonary Surfactant Protein B, Deficiency of |
2 |
131 |
P
|
ATR011 |
Atrial Fibrillation |
66 |
132 |
|
PTN001 |
Patent Foramen Ovale |
63 |
133 |
P
|
NTR004 |
Neutropenia |
61 |
134 |
c
|
SVR003 |
Severe Congenital Neutropenia |
58 |
135 |
c
|
NTR049 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
51 |
136 |
c
|
SVR107 |
Severe Congenital Neutropenia 3 |
44 |
137 |
c
|
CLR068 |
Ciliary Dyskinesia, Primary, 5 |
43 |
138 |
c
|
CLR140 |
Ciliary Dyskinesia, Primary, 40 |
38 |
139 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
38 |
140 |
c
|
SVR106 |
Severe Congenital Neutropenia 5 |
37 |
141 |
c
|
NTR050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
37 |
142 |
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
36 |
143 |
|
CMB046 |
Combined Oxidative Phosphorylation Deficiency 11 |
35 |
144 |
c
|
ATS483 |
Autosomal Dominant Severe Congenital Neutropenia |
33 |
145 |
c
|
NTR054 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
33 |
146 |
c
|
CLR125 |
Ciliary Dyskinesia, Primary, 33 |
32 |
147 |
c
|
SVR104 |
Severe Congenital Neutropenia 7 |
31 |
148 |
c
|
CLR143 |
Ciliary Dyskinesia, Primary, 43 |
30 |
149 |
c
|
NTR031 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
30 |
150 |
c
|
NTR051 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
29 |
151 |
c
|
SVR109 |
Severe Congenital Neutropenia 8 |
28 |
152 |
c
|
ATR061 |
Atrial Fibrillation, Familial, 10 |
28 |
153 |
c
|
NTR044 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
27 |
154 |
c
|
ATR037 |
Atrial Fibrillation, Familial, 7 |
26 |
155 |
c
|
NTR034 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
25 |
156 |
c
|
ATR038 |
Atrial Fibrillation, Familial, 3 |
25 |
157 |
c
|
ATR035 |
Atrial Fibrillation, Familial, 6 |
25 |
158 |
c
|
SVR108 |
Severe Congenital Neutropenia 6 |
25 |
159 |
c
|
ATR059 |
Atrial Fibrillation, Familial, 11 |
25 |
160 |
c
|
ATR085 |
Atrial Fibrillation, Familial, 18 |
24 |
161 |
c
|
ATR092 |
Atrial Fibrillation, Familial, 15 |
24 |
162 |
c
|
CLR142 |
Ciliary Dyskinesia, Primary, 42 |
24 |
163 |
c
|
NTR056 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
23 |
164 |
c
|
ATR068 |
Atrial Fibrillation, Familial, 14 |
23 |
165 |
c
|
ATR070 |
Atrial Fibrillation, Familial, 9 |
22 |
166 |
c
|
NTR045 |
Neutropenia, Chronic Familial |
22 |
167 |
c
|
PTN012 |
Patent Ductus Arteriosus 3 |
22 |
168 |
c
|
PTN013 |
Patent Ductus Arteriosus 2 |
22 |
169 |
c
|
ATR026 |
Atrial Fibrillation, Familial, 1 |
22 |
170 |
c
|
ATR039 |
Atrial Fibrillation, Familial, 4 |
21 |
171 |
c
|
ATR072 |
Atrial Fibrillation, Familial, 13 |
21 |
172 |
c
|
SVR103 |
Severe Congenital Neutropenia 1 |
20 |
173 |
|
MTC222 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
19 |
174 |
c
|
ATR069 |
Atrial Fibrillation, Familial, 12 |
19 |
175 |
|
MTC227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
19 |
176 |
c
|
ACQ053 |
Acquired Neutropenia |
17 |
177 |
c
|
ATS450 |
Autosomal Recessive Severe Congenital Neutropenia |
17 |
178 |
c
|
SVR105 |
Severe Congenital Neutropenia 2 |
16 |
179 |
|
PLM062 |
Pulmonary Hyalinizing Granuloma |
15 |
180 |
c
|
ATR027 |
Atrial Fibrillation, Familial, 5 |
14 |
181 |
|
LBR003 |
Labrador Lung |
14 |
182 |
c
|
ELN001 |
Elane-Related Neutropenia |
13 |
183 |
c
|
ATR025 |
Atrial Fibrillation, Familial, 2 |
13 |
184 |
|
ANM074 |
Anomalous Origin of Coronary Artery from the Pulmonary Artery |
13 |
185 |
c
|
ATR028 |
Atrial Fibrillation, Familial, 8 |
11 |
186 |
|
SLC011 |
Silicosiderosis |
9 |
187 |
|
ELL004 |
Ellis Yale Winter Syndrome |
7 |
188 |
|
CNG560 |
Congenital Pulmonary Artery Branch Stenosis |
6 |
189 |
|
CLB004 |
Calabro Syndrome |
5 |
190 |
|
ACD012 |
Acid Anhydride Respiratory Allergy |
3 |
191 |
|
APN008 |
Apnea, Obstructive Sleep |
68 |
192 |
P
|
CVD001 |
Covid-19 |
60 |
193 |
P
|
CNT004 |
Centronuclear Myopathy |
54 |
194 |
c
|
LTH007 |
Lethal Congenital Contracture Syndrome 1 |
53 |
195 |
c
|
MYP123 |
Myopathy, Centronuclear, 1 |
53 |
196 |
P
|
MTC235 |
Mitochondrial Disease |
51 |
197 |
c
|
MYP131 |
Myopathy, Centronuclear, 2 |
50 |
198 |
P
|
TTR031 |
Tetraamelia Syndrome |
48 |
199 |
P
|
SPN016 |
Spondylocostal Dysostosis |
45 |
200 |
P
|
SMK004 |
Smoking As a Quantitative Trait Locus 3 |
44 |
201 |
c
|
CHR096 |
Chronic Pulmonary Heart Disease |
41 |
202 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
41 |
203 |
c
|
NML025 |
Nemaline Myopathy 8 |
40 |
204 |
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
39 |
205 |
c
|
SVR110 |
Severe Congenital Neutropenia 4 |
39 |
206 |
c
|
LTH008 |
Lethal Congenital Contracture Syndrome 2 |
38 |
207 |
c
|
LTH026 |
Lethal Congenital Contracture Syndrome 4 |
36 |
208 |
c
|
MYP098 |
Myopathy, Centronuclear, 4 |
34 |
209 |
c
|
CLR098 |
Ciliary Dyskinesia, Primary, 27 |
34 |
210 |
P
|
BRN076 |
Bronchiectasis with or Without Elevated Sweat Chloride 1 |
34 |
211 |
c
|
MYP148 |
Myopathy, Centronuclear, 5 |
34 |
212 |
c
|
CLR090 |
Ciliary Dyskinesia, Primary, 22 |
33 |
213 |
c
|
CLR116 |
Ciliary Dyskinesia, Primary, 29 |
31 |
214 |
c
|
CLR106 |
Ciliary Dyskinesia, Primary, 26 |
29 |
215 |
|
CRB155 |
Carbonic Anhydrase Va Deficiency |
29 |
216 |
c
|
CLR104 |
Ciliary Dyskinesia, Primary, 15 |
29 |
217 |
c
|
LTH047 |
Lethal Congenital Contracture Syndrome 3 |
28 |
218 |
c
|
CLR097 |
Ciliary Dyskinesia, Primary, 23 |
28 |
219 |
|
ISL083 |
Isolated Cytochrome C Oxidase Deficiency |
28 |
220 |
|
LPY002 |
Lipoyltransferase 1 Deficiency |
27 |
221 |
|
ACR104 |
Acrofacial Dysostosis Syndrome of Rodriguez |
27 |
222 |
c
|
CLR102 |
Ciliary Dyskinesia, Primary, 17 |
27 |
223 |
P
|
ACT080 |
Acute Pulmonary Heart Disease |
27 |
224 |
P
|
MTC195 |
Mitochondrial Oxidative Phosphorylation Disorder |
26 |
225 |
c
|
CLR117 |
Ciliary Dyskinesia, Primary, 32 |
26 |
226 |
c
|
LTH029 |
Lethal Congenital Contracture Syndrome 9 |
26 |
227 |
c
|
TTR028 |
Tetraamelia Syndrome 1 |
26 |
228 |
c
|
CLR099 |
Ciliary Dyskinesia, Primary, 16 |
25 |
229 |
c
|
LTH032 |
Lethal Congenital Contracture Syndrome 7 |
25 |
230 |
c
|
LTH027 |
Lethal Congenital Contracture Syndrome 5 |
25 |
231 |
c
|
LTH039 |
Lethal Congenital Contracture Syndrome 11 |
25 |
232 |
c
|
LTH030 |
Lethal Congenital Contracture Syndrome 8 |
24 |
233 |
|
ISL082 |
Isolated Atp Synthase Deficiency |
23 |
234 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
23 |
235 |
c
|
BRN077 |
Bronchiectasis with or Without Elevated Sweat Chloride 3 |
23 |
236 |
c
|
CLR126 |
Ciliary Dyskinesia, Primary, 35 |
23 |
237 |
|
ISL116 |
Isolated Complex Iii Deficiency |
23 |
238 |
c
|
LTH031 |
Lethal Congenital Contracture Syndrome 6 |
22 |
239 |
|
CRT060 |
Cor Triatriatum Sinister |
22 |
240 |
c
|
CLR144 |
Ciliary Dyskinesia, Primary, 44 |
21 |
241 |
|
CNT120 |
Central Hypoventilation Syndrome, Congenital, 2, and Autonomic Dysfunction |
21 |
242 |
c
|
CLR147 |
Ciliary Dyskinesia, Primary, 46 |
19 |
243 |
c
|
PRM372 |
Primary Mitochondrial Disorders |
16 |
244 |
c
|
MTC199 |
Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis |
15 |
245 |
|
PLM027 |
Pulmonary Embolism and Infarction |
15 |
246 |
|
RSP008 |
Respiratory Rhythmicity in Sleep |
14 |
247 |
|
ASP009 |
Aspergillus Niger Infection |
14 |
248 |
|
PLM053 |
Pulmonary Artery Agenesis |
13 |
249 |
|
MCS005 |
Mucus Inspissation of Respiratory Tract |
13 |
250 |
|
BRR006 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification |
12 |
251 |
|
AGN006 |
Agnathia-Microstomia-Synotia |
11 |
252 |
c
|
EMP012 |
Emphysema, Hereditary Pulmonary |
10 |
253 |
|
RSP020 |
Respiratory Underresponsiveness to Hypoxia and Hypercapnia |
10 |
254 |
c
|
LNG065 |
Lung Cancer Susceptibility 4 |
9 |
255 |
|
GNT107 |
Genetic Interstitial Lung Disease |
9 |
256 |
c
|
ISC017 |
Isca2-Related Mitochondrial Disorder |
9 |
257 |
|
CNG602 |
Congenital Anomaly of the Great Arteries |
9 |
258 |
c
|
MTC183 |
Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies |
8 |
259 |
c
|
SMK001 |
Smoking As a Quantitative Trait Locus 1 |
8 |
260 |
|
HMS004 |
Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin |
8 |
261 |
|
PLM168 |
Pulmonary Bullae Causing Pneumothorax |
7 |
262 |
|
PLM199 |
Pulmonary Fibrosis Predisposition |
7 |
263 |
c
|
SMK002 |
Smoking As a Quantitative Trait Locus 2 |
7 |
264 |
|
HRS043 |
Horseshoe Kidney-Nievergelt/savarirayan Mesomelic Dysplasia-Seizures-Hypertrichosis-Intellectual Disability-Pulmonary Involvement Syndrome |
7 |
265 |
c
|
MTC198 |
Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes |
6 |
266 |
c
|
MTC192 |
Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna |
6 |
267 |
c
|
MTC190 |
Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies |
6 |
268 |
c
|
MTC189 |
Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna |
6 |
269 |
|
ABN008 |
Abnormal Origin of the Pulmonary Artery |
5 |
270 |
|
CNG131 |
Congenital Unilateral Pulmonary Hypoplasia |
5 |
271 |
|
RSP024 |
Respiratory or Mediastinal Malformation |
5 |
272 |
|
RRG022 |
Rare Genetic Respiratory Disease |
4 |
273 |
|
SYN157 |
Syndromic Respiratory or Mediastinal Malformation |
4 |
274 |
|
HRD065 |
Hordnes Engebretsen Knudtson Syndrome |
4 |
275 |
|
NNS063 |
Non-Syndromic Respiratory or Mediastinal Malformation |
3 |
276 |
|
ISL137 |
Isolated Oxidative Phosphorylation Complex Disorder |
3 |
277 |
|
RRD032 |
Rare Disorder Potentially Indicated for Lung Transplant |
3 |
278 |
|
PLM194 |
Pulmonary Artery or Pulmonary Branch Anomaly |
3 |
279 |
|
CLB015 |
Colobomata Unilobar Lung Heart Defect |
3 |
280 |
|
GRW010 |
Growth Retardation Hydrocephaly Lung Hypoplasia |
2 |
281 |
|
GNT072 |
Genetic Respiratory or Mediastinal Malformation |
2 |
282 |
|
GNT059 |
Genetic Respiratory Malformation |
2 |
283 |
P
|
LNG032 |
Lung Cancer |
98 |
284 |
P
|
RSP003 |
Respiratory Failure |
74 |
285 |
P
|
SYS005 |
Systemic Scleroderma |
73 |
286 |
c
|
SVR001 |
Severe Acute Respiratory Syndrome |
71 |
287 |
|
GRN037 |
Granulomatosis with Polyangiitis |
65 |
288 |
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
63 |
289 |
|
PNM001 |
Pneumocystosis |
63 |
290 |
c
|
SCL052 |
Scleroderma, Familial Progressive |
62 |
291 |
|
CRY005 |
Cryptococcosis |
61 |
292 |
c
|
LCL006 |
Localized Scleroderma |
61 |
293 |
|
CMM005 |
Common Cold |
61 |
294 |
P
|
PLY041 |
Polymyositis |
58 |
295 |
P
|
RHN004 |
Rhinitis |
57 |
296 |
P
|
VSC013 |
Visceral Heterotaxy |
56 |
297 |
|
GDP001 |
Goodpasture Syndrome |
55 |
298 |
|
MLR002 |
Miliary Tuberculosis |
52 |
299 |
P
|
CRY007 |
Cryoglobulinemia, Familial Mixed |
52 |
300 |
|
BRN014 |
Bronchopneumonia |
52 |
301 |
|
CRY014 |
Cryptococcal Meningitis |
51 |
302 |
c
|
HYP699 |
Hyperekplexia 1 |
50 |
303 |
P
|
BNG032 |
Benign Mesothelioma |
49 |
304 |
|
PLR001 |
Pleural Tuberculosis |
49 |
305 |
|
SWN001 |
Swine Influenza |
48 |
306 |
|
STT002 |
Status Asthmaticus |
48 |
307 |
|
EXT033 |
Extrapulmonary Tuberculosis |
46 |
308 |
P
|
TRC005 |
Tracheal Stenosis |
46 |
309 |
|
SHR044 |
Short Rib-Polydactyly Syndrome |
46 |
310 |
|
ADN067 |
Adenoid Hypertrophy |
46 |
311 |
c
|
CHR711 |
Chronic Asthma |
46 |
312 |
|
TRC026 |
Tracheal Disease |
45 |
313 |
c
|
ACT249 |
Acute Asthma |
44 |
314 |
|
MCC002 |
Mucocutaneous Leishmaniasis |
44 |
315 |
c
|
ATL011 |
Atelosteogenesis, Type I |
42 |
316 |
|
OLG020 |
Oligoarticular Juvenile Idiopathic Arthritis |
42 |
317 |
c
|
ATL015 |
Atelosteogenesis, Type Ii |
42 |
318 |
c
|
GRN064 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
42 |
319 |
|
CHL159 |
Childhood-Onset Asthma |
42 |
320 |
|
PRN021 |
Paranasal Sinus Disease |
42 |
321 |
c
|
CNT015 |
Central Sleep Apnea |
41 |
322 |
|
LRY017 |
Laryngeal Disease |
41 |
323 |
c
|
CLR135 |
Ciliary Dyskinesia, Primary, 7 |
40 |
324 |
|
EXR010 |
Exercise-Induced Bronchoconstriction |
40 |
325 |
|
VSM001 |
Vasomotor Rhinitis |
40 |
326 |
|
INT040 |
Intrinsic Asthma |
40 |
327 |
c
|
HYP519 |
Hyperekplexia 3 |
39 |
328 |
c
|
HTR021 |
Heterotaxy, Visceral, 5, Autosomal |
39 |
329 |
|
CGH001 |
Cough Variant Asthma |
39 |
330 |
c
|
HYP510 |
Hyperekplexia 2 |
39 |
331 |
|
CHY005 |
Chylothorax, Congenital |
38 |
332 |
P
|
ACR106 |
Acrocephalopolysyndactyly Type Iii |
38 |
333 |
|
IDP074 |
Idiopathic Bronchiectasis |
38 |
334 |
|
PDT035 |
Pediatric Systemic Lupus Erythematosus |
38 |
335 |
c
|
CLR105 |
Ciliary Dyskinesia, Primary, 20 |
37 |
336 |
|
OCC016 |
Occupational Asthma |
36 |
337 |
P
|
MXL015 |
Maxillary Sinusitis |
36 |
338 |
|
CMB045 |
Combined Oxidative Phosphorylation Deficiency 19 |
36 |
339 |
|
INT394 |
Intermittent Asthma |
36 |
340 |
c
|
CHR057 |
Chronic Laryngitis |
35 |
341 |
P
|
ATL001 |
Atelosteogenesis |
35 |
342 |
|
BLP051 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
34 |
343 |
|
ATR003 |
Atrophic Rhinitis |
34 |
344 |
c
|
CNG370 |
Congenital Tracheal Stenosis |
34 |
345 |
c
|
ATL012 |
Atelosteogenesis, Type Iii |
34 |
346 |
|
NSP003 |
Nasopharyngeal Disease |
33 |
347 |
|
CHR281 |
Chronic Hiccups |
33 |
348 |
|
PLR005 |
Pleuropneumonia |
33 |
349 |
|
SPN014 |
Spontaneous Tension Pneumothorax |
33 |
350 |
|
EPG003 |
Epiglottitis |
33 |
351 |
|
LPD001 |
Lipid Pneumonia |
33 |
352 |
|
EPT003 |
Epithelioid Trophoblastic Tumor |
32 |
353 |
c
|
CHR047 |
Chronic Ethmoiditis |
32 |
354 |
|
SLF002 |
Silo Filler's Disease |
32 |
355 |
|
ETH009 |
Ethmoid Sinusitis |
32 |
356 |
P
|
CRD245 |
Cardiac-Urogenital Syndrome |
32 |
357 |
c
|
HTR010 |
Heterotaxy, Visceral, 4, Autosomal |
32 |
358 |
|
NSL022 |
Nasal Cavity Disease |
31 |
359 |
|
HMP003 |
Hemopneumothorax |
31 |
360 |
c
|
CLR138 |
Ciliary Dyskinesia, Primary, 38 |
31 |
361 |
c
|
CHR038 |
Chronic Maxillary Sinusitis |
31 |
362 |
|
PNT001 |
Pontiac Fever |
30 |
363 |
|
DFF031 |
Diffuse Alveolar Hemorrhage |
30 |
364 |
|
ACD003 |
Acid Sphingomyelinase Deficiency |
29 |
365 |
|
SPH007 |
Sphenoid Sinusitis |
29 |
366 |
c
|
ACT059 |
Acute Maxillary Sinusitis |
29 |
367 |
c
|
HYP825 |
Hyperekplexia 4 |
29 |
368 |
|
NRF028 |
Near-Fatal Asthma |
29 |
369 |
c
|
BRN144 |
Bronchiectasis 2 |
28 |
370 |
|
T2H001 |
T2-High Asthma |
28 |
371 |
|
WTB001 |
Wet Beriberi |
28 |
372 |
|
LRY007 |
Laryngeal Tuberculosis |
28 |
373 |
|
THN013 |
Thunderstorm Triggered Asthma |
28 |
374 |
|
T2L001 |
T2-Low Asthma |
28 |
375 |
c
|
HTR009 |
Heterotaxy, Visceral, 2, Autosomal |
27 |
376 |
|
LRY004 |
Laryngotracheitis |
27 |
377 |
|
ADN002 |
Adenoiditis |
27 |
378 |
P
|
FRN011 |
Frontal Sinusitis |
27 |
379 |
c
|
HRM023 |
Hermansky-Pudlak Syndrome 11 |
26 |
380 |
c
|
HTR020 |
Heterotaxy, Visceral, 8, Autosomal |
26 |
381 |
|
ANT017 |
Anthracosilicosis |
26 |
382 |
c
|
HTR023 |
Heterotaxy, Visceral, 6, Autosomal |
26 |
383 |
|
MDD005 |
Middle Lobe Syndrome |
26 |
384 |
c
|
BRN075 |
Bronchiectasis with or Without Elevated Sweat Chloride 2 |
26 |
385 |
c
|
HTR018 |
Heterotaxy, Visceral, 7, Autosomal |
25 |
386 |
c
|
ACT035 |
Acute Frontal Sinusitis |
25 |
387 |
|
PRS142 |
Persistent Mild Asthma |
25 |
388 |
|
ANR006 |
Anaerobic Pneumonia |
24 |
389 |
c
|
BRN145 |
Bronchiectasis 3 |
24 |
390 |
P
|
ACT034 |
Acute Ethmoiditis |
24 |
391 |
c
|
CLR088 |
Ciliary Dyskinesia, Primary, 21 |
24 |
392 |
|
PRS144 |
Persistent Severe Asthma |
24 |
393 |
c
|
CNG616 |
Congenital Heart Defects, Multiple Types, 7 |
24 |
394 |
|
TBR009 |
Tuberculous Empyema |
24 |
395 |
|
END006 |
Endobronchial Lipoma |
23 |
396 |
c
|
JVN046 |
Juvenile Polymyositis |
23 |
397 |
|
VNT036 |
Ventilator-Induced Diaphragmatic Dysfunction |
23 |
398 |
|
END019 |
Endobronchial Leiomyoma |
22 |
399 |
c
|
HTR029 |
Heterotaxy, Visceral, 12, Autosomal |
22 |
400 |
|
HYD050 |
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts |
22 |
401 |
|
DBL007 |
Double Outlet Left Ventricle |
22 |
402 |
|
CRT057 |
Critical Congenital Heart Disease |
22 |
403 |
c
|
CHR040 |
Chronic Frontal Sinusitis |
22 |
404 |
|
CHR468 |
Chronic Pneumonitis of Infancy |
22 |
405 |
|
ALV003 |
Alveoli Adenoma |
21 |
406 |
|
SBR011 |
Subaortic Stenosis--Short Stature Syndrome |
21 |
407 |
|
UVL006 |
Uvulitis |
21 |
408 |
|
TXC020 |
Toxic Oil Syndrome |
20 |
409 |
c
|
ACR108 |
Acrocephalopolysyndactyly Type Iv |
20 |
410 |
P
|
HTR027 |
Heterotaxy, Visceral, 10, Autosomal, with Male Infertility |
20 |
411 |
c
|
ACQ070 |
Acquired Laryngomalacia |
20 |
412 |
|
ATR024 |
Atrial Fibrillation and Stroke |
19 |
413 |
|
MTC226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
18 |
414 |
|
FRN004 |
Frontal Sinus Inverted Papilloma |
18 |
415 |
|
CTM001 |
Catamenial Pneumothorax |
18 |
416 |
|
PRS143 |
Persistent Moderate Asthma |
18 |
417 |
|
IDP086 |
Idiopathic Pleuroparenchymal Fibroelastosis |
18 |
418 |
c
|
MXD051 |
Mixed Cryoglobulinemia Type Ii |
17 |
419 |
|
CMP003 |
Compensatory Emphysema |
17 |
420 |
|
SWY003 |
Swyer-James Syndrome |
17 |
421 |
|
SPN155 |
Spondylospinal Thoracic Dysostosis |
16 |
422 |
|
ATM088 |
Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea |
16 |
423 |
|
MXL005 |
Maxillary Sinus Inverted Papilloma |
16 |
424 |
|
TRC016 |
Tracheal Calcification |
16 |
425 |
|
CLR149 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
15 |
426 |
c
|
ADL100 |
Adult-Onset Severe Asthma |
15 |
427 |
|
FRS008 |
Froster-Huch Syndrome |
14 |
428 |
c
|
HTR012 |
Heterotaxy, Visceral, 3, Autosomal |
14 |
429 |
|
TBR004 |
Tuberculous Pneumothorax |
13 |
430 |
|
SPH005 |
Sphenoid Sinus Inverted Papilloma |
13 |
431 |
|
THR122 |
Thoracic Malformation |
13 |
432 |
|
SLT003 |
Slate Pneumoconiosis |
13 |
433 |
|
PLM145 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
13 |
434 |
c
|
SPR097 |
Sporadic Hyperekplexia |
12 |
435 |
c
|
CHR039 |
Chronic Sphenoidal Sinusitis |
12 |
436 |
|
INT109 |
Intranuclear Rod Myopathy |
11 |
437 |
P
|
ACT061 |
Acute Sphenoidal Sinusitis |
11 |
438 |
|
MXL007 |
Maxillary Sinus Cholesteatoma |
11 |
439 |
c
|
MYR006 |
Myrf-Related Cardiac Urogenital Syndrome |
10 |
440 |
|
PNM022 |
Pneumonia Caused by Pseudomonas Aeruginosa Infection |
10 |
441 |
c
|
PLR018 |
Pleuropulmonary Blastoma Type 1 |
9 |
442 |
|
VSC036 |
Visceral Calciphylaxis |
9 |
443 |
|
ETH006 |
Ethmoid Sinus Inverted Papilloma |
9 |
444 |
c
|
LRY051 |
Laryngotracheoesophageal Cleft Type 1 |
8 |
445 |
|
CNG334 |
Congenital Esophageal Diverticulum |
8 |
446 |
c
|
PLR020 |
Pleuropulmonary Blastoma Type 3 |
8 |
447 |
|
MD5001 |
Mda5 Deficiency |
8 |
448 |
|
NSL002 |
Nasal Vestibule Papilloma |
7 |
449 |
|
SBG002 |
Subglottic Angioma |
7 |
450 |
|
FRN001 |
Frontal Sinus Schneiderian Papilloma |
6 |
451 |
|
ETH005 |
Ethmoid Sinus Schneiderian Papilloma |
6 |
452 |
c
|
PLR019 |
Pleuropulmonary Blastoma Type 2 |
6 |
453 |
|
NRL003 |
Neurilemmoma of the Pleura |
4 |
454 |
|
MXD022 |
Mixed Mineral Dust Pneumoconiosis |
4 |
455 |
|
CMM017 |
Communicating Congenital Bronchopulmonary-Foregut Malformation |
4 |
456 |
|
ETH007 |
Ethmoid Sinus Ectopic Meningioma |
4 |
457 |
|
RGH011 |
Right Pulmonary Artery, Anomalous Origin of, Familial |
13 |
458 |
c
|
PLM141 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 |
26 |
459 |
|
SPN278 |
Spinal Muscular Atrophy with Respiratory Distress Type 2 |
8 |
460 |
|
TMR016 |
Tumor Suppressor Gene on Chromosome 11 |
32 |
461 |
|
ECH003 |
Echinococcosis |
54 |
462 |
|
DCR011 |
Dicer1 Syndrome |
49 |
463 |
|
LYM037 |
Lymphedema and Cerebral Arteriovenous Anomaly |
14 |
464 |
|
TRN079 |
Transposition of the Great Arteries, Dextro-Looped |
69 |
465 |
|
PLM004 |
Pulmonary Artery Leiomyosarcoma |
29 |
466 |
c
|
LNG109 |
Lung Cancer Susceptibility 1 |
26 |
467 |
|
PLM003 |
Pulmonary Vein Leiomyosarcoma |
22 |
468 |
|
GRH002 |
Graham Boyle Troxell Syndrome |
16 |
469 |
|
IDP017 |
Idiopathic Dilatation of the Pulmonary Artery |
15 |
470 |
|
4VN001 |
4-Vinylcyclohexene Dioxide Respiratory Allergy |
4 |
471 |
|
RMZ001 |
Remazole Black Respiratory Allergy |
4 |
472 |
c
|
THR092 |
Thrombophilia Due to Thrombin Defect |
76 |
473 |
P
|
RNL028 |
Renal Tubular Dysgenesis |
52 |
474 |
P
|
THR015 |
Thrombophilia |
52 |
475 |
P
|
TRM004 |
Trimethylaminuria |
49 |
476 |
c
|
HYP793 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
48 |
477 |
|
CRN055 |
Carney Triad |
44 |
478 |
P
|
PRM018 |
Primary Hypertrophic Osteoarthropathy |
40 |
479 |
c
|
SCN005 |
Secondary Hypertrophic Osteoarthropathy |
38 |
480 |
c
|
HYP520 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
29 |
481 |
c
|
THR023 |
Thrombophilia Due to Thrombomodulin Defect |
26 |
482 |
c
|
HYP759 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
25 |
483 |
c
|
PRM209 |
Primary Trimethylaminuria |
23 |
484 |
c
|
THR119 |
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator |
16 |
485 |
c
|
PLM183 |
Pulmonary Hypoplasia, Familial Primary |
13 |
486 |
c
|
THR126 |
Thrombophilia Due to Decreased Release of Plat |
8 |
487 |
c
|
RRH022 |
Rare Hereditary Thrombophilia |
7 |
488 |
|
FML086 |
Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect |
7 |
489 |
c
|
RNL090 |
Renal Tubular Dysgenesis Due to Twin-Twin Transfusion |
7 |
490 |
|
DFC004 |
Deficiency Anemia |
74 |
491 |
P
|
BRL012 |
Bare Lymphocyte Syndrome, Type Ii |
69 |
492 |
c
|
BRL011 |
Bare Lymphocyte Syndrome, Type I |
53 |
493 |
P
|
STV010 |
Stuve-Wiedemann Syndrome 1 |
52 |
494 |
|
BLS002 |
Blastomycosis |
50 |
495 |
|
PTT002 |
Potter's Syndrome |
41 |
496 |
P
|
RJB003 |
Rajab Interstitial Lung Disease with Brain Calcifications 1 |
33 |
497 |
|
ANM031 |
Anomalous Left Coronary Artery from the Pulmonary Artery |
29 |
498 |
|
FTL076 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, and Dysmorphic Facies |
25 |
499 |
|
MSC141 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
24 |
500 |
c
|
RJB004 |
Rajab Interstitial Lung Disease with Brain Calcifications 2 |
23 |
501 |
c
|
STV011 |
Stuve-Wiedemann Syndrome 2 |
21 |
502 |
c
|
BSL007 |
Basal Cell Carcinoma |
67 |
503 |
c
|
BSL024 |
Basal Cell Carcinoma 1 |
59 |
504 |
c
|
RGD003 |
Rigid Spine Muscular Dystrophy 1 |
59 |
505 |
|
GST009 |
Gastroschisis |
58 |
506 |
|
CRC006 |
Carcinoid Syndrome |
57 |
507 |
|
IMM240 |
Immunodeficiency 14a, Autosomal Dominant |
55 |
508 |
c
|
NML003 |
Nemaline Myopathy 2 |
55 |
509 |
c
|
ACH042 |
Achondrogenesis, Type Ib |
52 |
510 |
P
|
ACH011 |
Achondrogenesis |
50 |
511 |
|
ISC020 |
Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension |
50 |
512 |
c
|
ACH033 |
Achondrogenesis, Type Ia |
49 |
513 |
c
|
NML004 |
Nemaline Myopathy 3 |
47 |
514 |
P
|
SML001 |
Small Cell Carcinoma |
46 |
515 |
c
|
LRG001 |
Large Cell Carcinoma |
45 |
516 |
c
|
NML006 |
Nemaline Myopathy 5 |
45 |
517 |
|
ICH020 |
Ichthyosis Prematurity Syndrome |
42 |
518 |
|
CNZ010 |
Coenzyme Q10 Deficiency, Primary, 7 |
41 |
519 |
|
CMB040 |
Combined D-2- and L-2-Hydroxyglutaric Aciduria |
41 |
520 |
c
|
NML005 |
Nemaline Myopathy 4 |
39 |
521 |
c
|
NML010 |
Nemaline Myopathy 7 |
38 |
522 |
|
PLM196 |
Pulmonary Adenocarcinoma in Situ |
36 |
523 |
|
OPS002 |
Opsismodysplasia |
34 |
524 |
c
|
NML021 |
Nemaline Myopathy 9 |
34 |
525 |
|
XLN245 |
X-Linked Immunodeficiency 74 |
33 |
526 |
c
|
NML007 |
Nemaline Myopathy 6 |
33 |
527 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
31 |
528 |
|
CD8002 |
Cd8 Deficiency, Familial |
31 |
529 |
|
ESP029 |
Esophageal Atresia/tracheoesophageal Fistula |
28 |
530 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
27 |
531 |
c
|
BSL011 |
Basal Cell Carcinoma, Multiple |
26 |
532 |
|
RNL039 |
Renal Dysplasia-Limb Defects Syndrome |
25 |
533 |
|
AMN019 |
Amniotic Fluid Embolism |
24 |
534 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
24 |
535 |
c
|
BSL034 |
Basal Cell Carcinoma 7 |
21 |
536 |
c
|
BSL026 |
Basal Cell Carcinoma 3 |
16 |
537 |
c
|
BSL025 |
Basal Cell Carcinoma 2 |
15 |
538 |
c
|
BSL028 |
Basal Cell Carcinoma 5 |
15 |
539 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
15 |
540 |
c
|
BSL029 |
Basal Cell Carcinoma 6 |
14 |
541 |
c
|
BSL027 |
Basal Cell Carcinoma 4 |
13 |
542 |
c
|
LNG086 |
Lung Cancer Susceptibility 5 |
10 |
543 |
P
|
ALG028 |
Alagille Syndrome 1 |
74 |
544 |
P
|
LVR013 |
Liver Disease |
71 |
545 |
c
|
MSC165 |
Muscular Dystrophy, Congenital, Lmna-Related |
66 |
546 |
P
|
MSC005 |
Muscular Dystrophy |
66 |
547 |
c
|
ACT134 |
Acute Liver Failure |
57 |
548 |
P
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
54 |
549 |
|
ART035 |
Arterial Calcification of Infancy |
54 |
550 |
c
|
ACH041 |
Achondrogenesis, Type Ii |
54 |
551 |
P
|
PNC025 |
Panic Disorder |
52 |
552 |
P
|
FNC026 |
Fanconi Renotubular Syndrome 1 |
51 |
553 |
c
|
PRG131 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 |
50 |
554 |
c
|
PRG130 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 |
49 |
555 |
c
|
PRG039 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 |
48 |
556 |
c
|
HRM008 |
Hermansky-Pudlak Syndrome 5 |
48 |
557 |
|
HRT039 |
Heart Defects, Congenital, and Other Congenital Anomalies |
47 |
558 |
c
|
PRG038 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 |
47 |
559 |
c
|
MSC178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
47 |
560 |
|
PST020 |
Postpoliomyelitis Syndrome |
46 |
561 |
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
45 |
562 |
|
SPN362 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
44 |
563 |
|
INF058 |
Inflammatory Myofibroblastic Tumor |
43 |
564 |
c
|
HRM007 |
Hermansky-Pudlak Syndrome 4 |
41 |
565 |
c
|
LVR030 |
Liver Failure, Infantile, Transient |
40 |
566 |
c
|
NML022 |
Nemaline Myopathy 10 |
39 |
567 |
|
HYP223 |
Hypoplastic Right Heart Syndrome |
37 |
568 |
c
|
ALG016 |
Alagille Syndrome 2 |
36 |
569 |
c
|
FNC034 |
Fanconi Renotubular Syndrome 2 |
35 |
570 |
c
|
PRG103 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 |
34 |
571 |
|
CNG538 |
Congenital Arthrogryposis with Anterior Horn Cell Disease |
34 |
572 |
|
CPM001 |
Cap Myopathy |
33 |
573 |
|
MYP152 |
Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures |
32 |
574 |
|
MTC037 |
Mitochondrial Phosphate Carrier Deficiency |
32 |
575 |
c
|
INF194 |
Infantile Liver Failure Syndrome |
31 |
576 |
c
|
PRG102 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 |
31 |
577 |
c
|
INF138 |
Infantile Liver Failure Syndrome 2 |
31 |
578 |
|
BLN004 |
Balantidiasis |
30 |
579 |
|
ACT231 |
Acute Flaccid Myelitis |
29 |
580 |
P
|
ENC069 |
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 |
29 |
581 |
c
|
PRG128 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 |
29 |
582 |
c
|
FNC066 |
Fanconi Renotubular Syndrome 5 |
29 |
583 |
c
|
ENC066 |
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 |
28 |
584 |
|
IMM194 |
Immunodeficiency 59 and Hypoglycemia |
26 |
585 |
|
DST016 |
Distomatosis |
26 |
586 |
c
|
PRG041 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 |
26 |
587 |
c
|
LVR033 |
Liver Disease, Severe Congenital |
25 |
588 |
c
|
INF190 |
Infantile Liver Failure Syndrome 3 |
25 |
589 |
c
|
PRG106 |
Progressive Muscular Dystrophy |
24 |
590 |
c
|
PRG134 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 |
23 |
591 |
|
PRT114 |
Prothrombin Thrombophilia |
23 |
592 |
c
|
FNC049 |
Fanconi Renotubular Syndrome 3 |
23 |
593 |
c
|
PRG129 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 |
22 |
594 |
|
LRY027 |
Laryngeal Papillomatosis |
22 |
595 |
|
TMM013 |
Tmem70 Defect |
21 |
596 |
|
IMM200 |
Immunodeficiency 62 |
21 |
597 |
c
|
PNC122 |
Panic Disorder 1 |
19 |
598 |
|
EXT064 |
Extraoral Halitosis Due to Methanethiol Oxidase Deficiency |
19 |
599 |
|
MCH007 |
Meacham Winn Culler Syndrome |
16 |
600 |
|
FML079 |
Familial Nasal Acilia |
16 |
601 |
c
|
PNC070 |
Panic Disorder 2 |
13 |
602 |
c
|
PNC068 |
Panic Disorder 3 |
13 |
603 |
|
UNL013 |
Unilateral Absence of a Pulmonary Artery |
12 |
604 |
c
|
FNC067 |
Fanconi Renotubular Syndrome 4 |
10 |
605 |
|
SCM002 |
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities |
6 |
606 |
|
CNG599 |
Congenital Pulmonary Veins Anomaly |
3 |
607 |
P
|
HRT032 |
Heart Disease |
80 |
608 |
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
609 |
c
|
ART115 |
Aortic Valve Disease 1 |
78 |
610 |
c
|
MCP050 |
Mucopolysaccharidosis, Type Ii |
74 |
611 |
P
|
ASP006 |
Aspergillosis |
73 |
612 |
c
|
NMN015 |
Niemann-Pick Disease, Type C1 |
71 |
613 |
c
|
ART101 |
Aortic Valve Disease 2 |
71 |
614 |
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
70 |
615 |
c
|
MCP052 |
Mucopolysaccharidosis, Type Vi |
70 |
616 |
c
|
MSC170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
69 |
617 |
P
|
BRG001 |
Brugada Syndrome |
69 |
618 |
|
PLM001 |
Pulmonary Tuberculosis |
68 |
619 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
68 |
620 |
P
|
INF038 |
Influenza |
68 |
621 |
c
|
MCP001 |
Mucopolysaccharidosis Iii |
67 |
622 |
|
ALL003 |
Allergic Rhinitis |
66 |
623 |
c
|
HRD002 |
Hereditary Angioedema |
66 |
624 |
c
|
NMN013 |
Niemann-Pick Disease, Type a |
66 |
625 |
c
|
JVN010 |
Juvenile Rheumatoid Arthritis |
66 |
626 |
c
|
MCP047 |
Mucopolysaccharidosis, Type Iva |
65 |
627 |
|
MCS006 |
Macs Syndrome |
65 |
628 |
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
65 |
629 |
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
630 |
c
|
MCP043 |
Mucopolysaccharidosis, Type Iiia |
64 |
631 |
P
|
HRM001 |
Hermansky-Pudlak Syndrome |
63 |
632 |
c
|
MCP044 |
Mucopolysaccharidosis, Type Iiib |
62 |
633 |
P
|
NSP012 |
Nasopharyngeal Carcinoma |
62 |
634 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
61 |
635 |
c
|
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly |
61 |
636 |
c
|
MCP004 |
Mucopolysaccharidosis Iv |
61 |
637 |
|
WLF001 |
Wolff-Parkinson-White Syndrome |
61 |
638 |
c
|
MCP045 |
Mucopolysaccharidosis, Type Iiic |
61 |
639 |
P
|
NMN002 |
Niemann-Pick Disease |
60 |
640 |
P
|
BRN022 |
Bronchiectasis |
59 |
641 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
59 |
642 |
c
|
ANG070 |
Angioedema, Hereditary, 1 |
59 |
643 |
c
|
THR082 |
Thrombophilia Due to Activated Protein C Resistance |
59 |
644 |
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
58 |
645 |
c
|
SPN330 |
Spondylocostal Dysostosis 5 |
58 |
646 |
|
PNM006 |
Pneumoconiosis |
58 |
647 |
P
|
PLM034 |
Pulmonary Emphysema |
57 |
648 |
c
|
SHR069 |
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly |
57 |
649 |
c
|
SHR075 |
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly |
57 |
650 |
c
|
HRM005 |
Hermansky-Pudlak Syndrome 1 |
57 |
651 |
|
BRN002 |
Bronchiolitis |
57 |
652 |
c
|
BRG005 |
Brugada Syndrome 1 |
56 |
653 |
c
|
MCP048 |
Mucopolysaccharidosis, Type Ivb |
56 |
654 |
P
|
PLR004 |
Pleuropulmonary Blastoma |
56 |
655 |
c
|
HRM017 |
Hermansky-Pudlak Syndrome 2 |
56 |
656 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
55 |
657 |
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
55 |
658 |
|
PNM008 |
Pneumothorax |
55 |
659 |
|
BRN012 |
Bronchiolitis Obliterans |
55 |
660 |
P
|
ANG015 |
Angioedema |
55 |
661 |
|
MLT028 |
Multiminicore Disease |
54 |
662 |
c
|
CHR048 |
Chronic Rhinitis |
54 |
663 |
P
|
ART018 |
Aortic Valve Insufficiency |
54 |
664 |
|
PLM012 |
Pulmonary Sarcoidosis |
54 |
665 |
|
PLM010 |
Pulmonary Edema |
53 |
666 |
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
53 |
667 |
P
|
LRY019 |
Laryngitis |
52 |
668 |
|
PLR007 |
Pleural Empyema |
52 |
669 |
P
|
PLM006 |
Pulmonary Alveolar Proteinosis |
52 |
670 |
|
RSP006 |
Respiratory System Disease |
52 |
671 |
c
|
CHR037 |
Chronic Eosinophilic Pneumonia |
52 |
672 |
c
|
SPN310 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
52 |
673 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
52 |
674 |
|
CRY001 |
Cryptogenic Organizing Pneumonia |
51 |
675 |
|
BRN038 |
Bronchial Disease |
51 |
676 |
P
|
ESN008 |
Eosinophilic Pneumonia |
51 |
677 |
c
|
TMR025 |
Tumor Predisposition Syndrome 1 |
51 |
678 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
51 |
679 |
c
|
SHR068 |
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly |
51 |
680 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
50 |
681 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
50 |
682 |
|
LNG095 |
Lung Abscess |
50 |
683 |
|
PLM035 |
Pulmonary Eosinophilia |
50 |
684 |
c
|
HRD227 |
Hereditary Spastic Paraplegia 35 |
50 |
685 |
c
|
MSC176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
50 |
686 |
|
LMT001 |
Limited Scleroderma |
50 |
687 |
|
SHR098 |
Short-Rib Thoracic Dysplasia 12 |
50 |
688 |
|
MCR088 |
Microscopic Polyangiitis |
49 |
689 |
c
|
INV001 |
Invasive Aspergillosis |
49 |
690 |
|
3HY005 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
49 |
691 |
c
|
GRN063 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
49 |
692 |
|
ALV007 |
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
49 |
693 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
49 |
694 |
c
|
HRM006 |
Hermansky-Pudlak Syndrome 3 |
49 |
695 |
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
49 |
696 |
|
PNM005 |
Pneumonic Plague |
49 |
697 |
|
LNG116 |
Long Covid |
49 |
698 |
c
|
GRN062 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
48 |
699 |
c
|
SVR112 |
Severe Covid-19 |
48 |
700 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
48 |
701 |
c
|
MSC173 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
48 |
702 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
48 |
703 |
P
|
NML001 |
Nemaline Myopathy |
47 |
704 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
47 |
705 |
|
AST052 |
Asthma, Nasal Polyps, and Aspirin Intolerance |
47 |
706 |
c
|
SHR066 |
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly |
47 |
707 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
47 |
708 |
|
MNC019 |
Monocarboxylate Transporter 1 Deficiency |
47 |
709 |
c
|
BRG004 |
Brugada Syndrome 4 |
47 |
710 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
47 |
711 |
c
|
ANG071 |
Angioedema, Hereditary, 3 |
47 |
712 |
c
|
HRM012 |
Hermansky-Pudlak Syndrome 9 |
46 |
713 |
|
HNT002 |
Hantavirus Pulmonary Syndrome |
46 |
714 |
c
|
ATS298 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
46 |
715 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
46 |
716 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
46 |
717 |
|
ASB001 |
Asbestosis |
46 |
718 |
|
PLR008 |
Pleurisy |
46 |
719 |
c
|
ART159 |
Aortic Valve Disease 3 |
46 |
720 |
c
|
ATS279 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
46 |
721 |
|
NSP002 |
Nasopharyngitis |
46 |
722 |
P
|
BRB001 |
Beriberi |
45 |
723 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
45 |
724 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
45 |
725 |
|
MDD018 |
Middle East Respiratory Syndrome |
45 |
726 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
45 |
727 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
45 |
728 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
45 |
729 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
45 |
730 |
c
|
ATS207 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
45 |
731 |
|
ESN011 |
Eisenmenger Syndrome |
44 |
732 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
44 |
733 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
44 |
734 |
c
|
HRD171 |
Hereditary Pulmonary Alveolar Proteinosis |
44 |
735 |
c
|
MSC174 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
44 |
736 |
c
|
SPN297 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
44 |
737 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
44 |
738 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
44 |
739 |
c
|
SHR064 |
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly |
44 |
740 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
44 |
741 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
43 |
742 |
|
MTC112 |
Mitochondrial Dna-Associated Leigh Syndrome |
43 |
743 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
43 |
744 |
c
|
SHR067 |
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly |
43 |
745 |
c
|
SHR070 |
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly |
43 |
746 |
c
|
ATS246 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
43 |
747 |
|
DPH021 |
Diaphragm Disease |
43 |
748 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
43 |
749 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
43 |
750 |
c
|
MSC171 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
43 |
751 |
c
|
SHR071 |
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly |
43 |
752 |
|
BMR001 |
Boomerang Dysplasia |
43 |
753 |
c
|
ATS277 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
43 |
754 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
42 |
755 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
42 |
756 |
c
|
MCP051 |
Mucopolysaccharidosis, Type Ix |
42 |
757 |
c
|
ATS331 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
42 |
758 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
42 |
759 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
42 |
760 |
c
|
ATS217 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
42 |
761 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
42 |
762 |
|
NSD001 |
Nose Disease |
42 |
763 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
42 |
764 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
41 |
765 |
c
|
CNG404 |
Congenital Heart Defects, Multiple Types, 4 |
41 |
766 |
c
|
MSC179 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
41 |
767 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
41 |
768 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
41 |
769 |
|
HYP041 |
Hypochondrogenesis |
41 |
770 |
c
|
CLR094 |
Ciliary Dyskinesia, Primary, 28 |
41 |
771 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
41 |
772 |
c
|
MSC180 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
41 |
773 |
|
CHR661 |
Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction |
41 |
774 |
|
IMM088 |
Immunodeficiency 36 |
41 |
775 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
41 |
776 |
c
|
BRG003 |
Brugada Syndrome 3 |
40 |
777 |
c
|
SPN081 |
Spondylocostal Dysostosis, Autosomal Recessive |
40 |
778 |
c
|
JBR015 |
Joubert Syndrome 6 |
40 |
779 |
c
|
ATS297 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
40 |
780 |
c
|
HYP543 |
Hypoplastic Left Heart Syndrome 1 |
40 |
781 |
c
|
ACQ012 |
Acquired Angioedema |
40 |
782 |
|
LNG030 |
Lung Adenoma |
40 |
783 |
c
|
BRG007 |
Brugada Syndrome 5 |
40 |
784 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
40 |
785 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
40 |
786 |
c
|
HRM010 |
Hermansky-Pudlak Syndrome 7 |
40 |
787 |
|
NNT004 |
Neonatal Respiratory Failure |
39 |
788 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
39 |
789 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
39 |
790 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
39 |
791 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
39 |
792 |
c
|
MSC183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
39 |
793 |
c
|
MSC181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
38 |
794 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
38 |
795 |
|
PLM018 |
Pulmonary Sclerosing Hemangioma |
38 |
796 |
|
ORN001 |
Ornithosis |
38 |
797 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
38 |
798 |
|
SPN446 |
Spondylometaphyseal Dysplasia with Corneal Dystrophy |
38 |
799 |
c
|
SPS238 |
Spastic Paraplegia 81, Autosomal Recessive |
37 |
800 |
c
|
SPN215 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
37 |
801 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
37 |
802 |
|
LRY002 |
Laryngostenosis |
37 |
803 |
P
|
THY054 |
Thyrotoxic Periodic Paralysis |
37 |
804 |
P
|
ACT105 |
Acute Mountain Sickness |
37 |
805 |
c
|
SHR083 |
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly |
37 |
806 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
37 |
807 |
c
|
MSC184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
37 |
808 |
c
|
NRP064 |
Neuropathy, Congenital Hypomyelinating, 2 |
36 |
809 |
|
LTH001 |
Lethal Midline Granuloma |
36 |
810 |
c
|
TMR026 |
Tumor Predisposition Syndrome 2 |
36 |
811 |
c
|
ATS299 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
36 |
812 |
|
PLM013 |
Pulmonary Immaturity |
36 |
813 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
36 |
814 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
36 |
815 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
36 |
816 |
c
|
ATS211 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
36 |
817 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
35 |
818 |
|
CLL043 |
Collagen Vi-Related Dystrophies |
35 |
819 |
|
PLM184 |
Pulmonary Arterial Hypertension Associated with Congenital Heart Disease |
35 |
820 |
|
BRN101 |
Bronchiolitis Obliterans with Obstructive Pulmonary Disease |
35 |
821 |
c
|
HRD229 |
Hereditary Spastic Paraplegia 56 |
35 |
822 |
c
|
SPS092 |
Spastic Paraplegia 11 |
35 |
823 |
|
KLB003 |
Klebsiella Pneumonia |
35 |
824 |
|
ACT018 |
Acute Laryngopharyngitis |
34 |
825 |
|
UPP004 |
Upper Respiratory Tract Disease |
34 |
826 |
|
PRC054 |
Perching Syndrome |
34 |
827 |
c
|
MSC189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
34 |
828 |
|
ASB003 |
Asbestos Intoxication |
34 |
829 |
P
|
SPS012 |
Spastic Paraplegia 3a |
34 |
830 |
c
|
LMB073 |
Limb-Girdle Muscular Dystrophy Type 1a |
34 |
831 |
|
PSR016 |
Psoriatic Juvenile Idiopathic Arthritis |
34 |
832 |
c
|
HRD226 |
Hereditary Spastic Paraplegia 49 |
33 |
833 |
|
CHT006 |
Chitayat Syndrome |
33 |
834 |
|
ANT002 |
Anti-Basement Membrane Glomerulonephritis |
33 |
835 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
33 |
836 |
|
NNT049 |
Nontuberculous Mycobacterial Lung Disease |
33 |
837 |
|
SCK001 |
Sick Building Syndrome |
33 |
838 |
c
|
THY084 |
Thyrotoxic Periodic Paralysis 1 |
33 |
839 |
c
|
THY083 |
Thyrotoxic Periodic Paralysis 2 |
33 |
840 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
33 |
841 |
c
|
SPS025 |
Spastic Paraplegia 15 |
32 |
842 |
c
|
OST176 |
Osteogenesis Imperfecta, Type Xx |
32 |
843 |
c
|
ACT072 |
Acute Laryngitis |
32 |
844 |
|
TYP026 |
Typical Congenital Nemaline Myopathy |
32 |
845 |
|
ASP038 |
Aspirin-Induced Respiratory Disease |
32 |
846 |
|
WLL029 |
Williams-Campbell Syndrome |
32 |
847 |
c
|
BRG008 |
Brugada Syndrome 6 |
31 |
848 |
c
|
ATS280 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
31 |
849 |
c
|
SHR104 |
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly |
31 |
850 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
31 |
851 |
c
|
SPS243 |
Spastic Paraplegia 85, Autosomal Recessive |
31 |
852 |
|
MGL033 |
Megalocornea-Mental Retardation Syndrome |
31 |
853 |
|
SCR039 |
Scorpion Envenomation |
31 |
854 |
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
31 |
855 |
|
TRC038 |
Tracheobronchomegaly |
31 |
856 |
|
CPL004 |
Caplan's Syndrome |
31 |
857 |
c
|
DRY002 |
Dry Beriberi |
31 |
858 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
31 |
859 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
31 |
860 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
31 |
861 |
c
|
RHM021 |
Rheumatoid Arthritis, Systemic Juvenile |
31 |
862 |
|
MXL006 |
Maxillary Sinus Adenocarcinoma |
30 |
863 |
c
|
MSC058 |
Muscular Dystrophy, Limb-Girdle, Type 1h |
30 |
864 |
c
|
BRG012 |
Brugada Syndrome 9 |
30 |
865 |
c
|
SPS240 |
Spastic Paraplegia 83, Autosomal Recessive |
30 |
866 |
|
RGH010 |
Right Ventricular Hypoplasia, Isolated |
30 |
867 |
|
CTN013 |
Cutaneous Anthrax |
30 |
868 |
|
BRN148 |
Bronchial Benign Neoplasm |
30 |
869 |
|
VNT001 |
Ventilation Pneumonitis |
30 |
870 |
c
|
SPS244 |
Spastic Paraplegia 86, Autosomal Recessive |
30 |
871 |
P
|
FHT001 |
Fh Tumor Predisposition Syndrome |
30 |
872 |
|
LFF002 |
Loeffler Syndrome |
29 |
873 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
29 |
874 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
875 |
c
|
SPN307 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
29 |
876 |
c
|
SPS242 |
Spastic Paraplegia 84, Autosomal Recessive |
29 |
877 |
c
|
BRG006 |
Brugada Syndrome 2 |
29 |
878 |
c
|
CNG520 |
Congenital Heart Defects, Multiple Types, 6 |
29 |
879 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
880 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
29 |
881 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
29 |
882 |
|
BYS001 |
Byssinosis |
29 |
883 |
c
|
SPS091 |
Spastic Paraplegia 4 |
29 |
884 |
c
|
MSC191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
29 |
885 |
|
PLM198 |
Pulmonary Interstitial Emphysema |
28 |
886 |
c
|
SPS013 |
Spastic Paraplegia 8 |
28 |
887 |
|
YNG002 |
Young Syndrome |
28 |
888 |
c
|
CHR546 |
Chronic Mountain Sickness |
28 |
889 |
|
DFF002 |
Diffuse Pulmonary Fibrosis |
28 |
890 |
c
|
SHR115 |
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly |
28 |
891 |
P
|
VRT017 |
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 |
28 |
892 |
c
|
SHR129 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
27 |
893 |
c
|
CLR054 |
Ciliary Dyskinesia, Primary, 12 |
27 |
894 |
|
PLS031 |
Plastic Bronchitis |
27 |
895 |
c
|
VRT014 |
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 |
27 |
896 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
27 |
897 |
c
|
MSC187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
27 |
898 |
|
FCT013 |
Factor V Leiden Thrombophilia |
27 |
899 |
P
|
PLY187 |
Polyarticular Juvenile Idiopathic Arthritis |
27 |
900 |
c
|
BRG010 |
Brugada Syndrome 8 |
27 |
901 |
c
|
MYS082 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
27 |
902 |
c
|
ATS333 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
27 |
903 |
c
|
SHR101 |
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly |
27 |
904 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
27 |
905 |
|
LNG009 |
Lung Meningioma |
26 |
906 |
c
|
CNG511 |
Congenital Heart Defects, Multiple Types, 2 |
26 |
907 |
|
MNB001 |
Main Bronchus Cancer |
26 |
908 |
|
PLM015 |
Pulmonary Systemic Sclerosis |
26 |
909 |
|
THR032 |
Thoracolaryngopelvic Dysplasia |
26 |
910 |
|
IMM229 |
Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia |
26 |
911 |
c
|
MCP055 |
Mucopolysaccharidosis, Type X |
26 |
912 |
c
|
BRG009 |
Brugada Syndrome 7 |
26 |
913 |
|
NSL006 |
Nasal Cavity Squamous Cell Carcinoma |
26 |
914 |
c
|
BRN143 |
Bronchiectasis 1 |
26 |
915 |
c
|
VNT024 |
Ventricular Septal Defect 3 |
26 |
916 |
|
GLY094 |
Glycine Encephalopathy with Normal Serum Glycine |
26 |
917 |
c
|
VRL001 |
Viral Laryngitis |
26 |
918 |
|
TXC007 |
Toxic Pneumonitis |
26 |
919 |
c
|
CNG521 |
Congenital Heart Defects, Multiple Types, 5 |
25 |
920 |
|
SCH010 |
Schneiderian Carcinoma |
25 |
921 |
c
|
LMB074 |
Limb-Girdle Muscular Dystrophy Type 1b |
25 |
922 |
|
ENV003 |
Environmental Induced Asthma |
25 |
923 |
c
|
MYS084 |
Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive |
25 |
924 |
|
ACT016 |
Actinobacillosis |
25 |
925 |
|
LRY028 |
Laryngocele |
25 |
926 |
|
ACR020 |
Acropectorovertebral Dysplasia |
25 |
927 |
|
MYP121 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
24 |
928 |
c
|
ATS332 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
24 |
929 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
24 |
930 |
P
|
SNS011 |
Sinus Cancer |
24 |
931 |
|
SLN006 |
Silent Sinus Syndrome |
24 |
932 |
|
CHL147 |
Chlamydia Pneumonia |
24 |
933 |
|
PLR002 |
Pleural Lipoma |
24 |
934 |
c
|
JBR050 |
Joubert Syndrome 38 |
24 |
935 |
c
|
SPS042 |
Spastic Paraplegia 9 |
24 |
936 |
c
|
GRN065 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
24 |
937 |
c
|
SPN417 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
23 |
938 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
23 |
939 |
|
CHL079 |
Children's Interstitial Lung Disease |
23 |
940 |
|
CRK001 |
Cork-Handlers' Disease |
23 |
941 |
c
|
MSC186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
23 |
942 |
|
CCN012 |
Cocaine Antenatal Exposure |
23 |
943 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
23 |
944 |
c
|
VRT015 |
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 |
23 |
945 |
|
LRY006 |
Larynx Squamous Papilloma |
23 |
946 |
|
BRN040 |
Bronchus Adenoma |
23 |
947 |
|
FRN058 |
Frontal Sinus Benign Neoplasm |
23 |
948 |
c
|
ANG072 |
Angioedema, Hereditary, 4 |
23 |
949 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
23 |
950 |
|
HYP015 |
Hyperlucent Lung |
23 |
951 |
|
ETH001 |
Ethmoid Sinus Adenocarcinoma |
22 |
952 |
c
|
MSC202 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
22 |
953 |
|
STR103 |
Streptococcus Pneumonia |
22 |
954 |
c
|
ADL080 |
Adult Acute Respiratory Distress Syndrome |
22 |
955 |
|
CMB039 |
Combined Pulmonary Fibrosis-Emphysema Syndrome |
22 |
956 |
|
TRC014 |
Trachea Adenoid Cystic Carcinoma |
22 |
957 |
c
|
HYP517 |
Hypoplastic Left Heart Syndrome 2 |
22 |
958 |
|
RSP018 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
22 |
959 |
c
|
HTR026 |
Heterotaxy, Visceral, 9, Autosomal, with Male Infertility |
22 |
960 |
|
PLM201 |
Pulmonary Talcosis |
22 |
961 |
P
|
RGD004 |
Rigid Spine Muscular Dystrophy |
22 |
962 |
c
|
PLY065 |
Polyarticular Onset Juvenile Idiopathic Arthritis |
22 |
963 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
21 |
964 |
|
MTC220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
21 |
965 |
|
HYD053 |
Hydrocephalus with Associated Malformations |
21 |
966 |
|
DST013 |
Distal Myopathy with Vocal Cord Weakness |
21 |
967 |
|
PLM189 |
Pulmonary Arterial Hypertension Associated with Connective Tissue Disease |
21 |
968 |
|
CMB098 |
Combined Oxidative Phosphorylation Deficiency 42 |
21 |
969 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
20 |
970 |
|
SBG006 |
Subglottis Benign Neoplasm |
20 |
971 |
|
MXL002 |
Maxillary Sinus Adenoid Cystic Carcinoma |
20 |
972 |
c
|
LCL003 |
Localized Pulmonary Fibrosis |
20 |
973 |
c
|
ANG073 |
Angioedema, Hereditary, 5 |
20 |
974 |
c
|
ATS354 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
20 |
975 |
c
|
ANG074 |
Angioedema, Hereditary, 6 |
20 |
976 |
|
DYS135 |
Dysphagia Lusoria |
20 |
977 |
|
ETH008 |
Ethmoid Sinus Cancer |
20 |
978 |
c
|
HTR028 |
Heterotaxy, Visceral, 11, Autosomal, with Male Infertility |
20 |
979 |
c
|
NSP015 |
Nasopharyngeal Carcinoma 3 |
20 |
980 |
|
NRN023 |
Neuroendocrine Cell Hyperplasia of Infancy |
19 |
981 |
|
SLF020 |
Sulfide:quinone Oxidoreductase Deficiency |
19 |
982 |
|
SPR022 |
Supraglottis Neoplasm |
19 |
983 |
c
|
SPS246 |
Spastic Paraplegia 87, Autosomal Recessive |
19 |
984 |
|
PST015 |
Postinflammatory Pulmonary Fibrosis |
19 |
985 |
|
HNR001 |
Heiner Syndrome |
19 |
986 |
c
|
ANG076 |
Angioedema, Hereditary, 8 |
19 |
987 |
|
MNV001 |
Manouvrier Syndrome |
19 |
988 |
c
|
SCN051 |
Secondary Pulmonary Alveolar Proteinosis |
18 |
989 |
|
THR033 |
Thoracomelic Dysplasia |
18 |
990 |
c
|
CNG385 |
Congenital Heart Defects, Multiple Types, 3 |
18 |
991 |
c
|
SPS248 |
Spastic Paraplegia 88, Autosomal Dominant |
18 |
992 |
|
ALM003 |
Aluminosis |
18 |
993 |
|
PLM108 |
Pulmonary Interstitial Glycogenosis |
18 |
994 |
|
NNM008 |
Nonmucinous Bronchioloalveolar Adenocarcinoma |
18 |
995 |
P
|
NMN011 |
Niemann-Pick Disease Type C, Adult Neurologic Onset |
18 |
996 |
c
|
NSP009 |
Nasopharyngeal Carcinoma 2 |
18 |
997 |
|
LRS009 |
Larsen-Like Syndrome, Lethal Type |
17 |
998 |
c
|
ANG075 |
Angioedema, Hereditary, 7 |
17 |
999 |
P
|
CNG600 |
Congenital Arteriovenous Fistula |
17 |
1000 |
|
PLM188 |
Pulmonary Arterial Hypertension Associated with Another Disease |
17 |
1001 |
|
KMM002 |
Kommerell Diverticulum |
17 |
1002 |
|
CRV066 |
Cervical Aortic Arch |
17 |
1003 |
|
ISL118 |
Isolated Tracheoesophageal Fistula |
17 |
1004 |
c
|
NMN010 |
Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset |
16 |
1005 |
c
|
NMN009 |
Niemann-Pick Disease Type C, Late Infantile Neurologic Onset |
16 |
1006 |
|
NMN008 |
Niemann-Pick Disease Type C, Severe Perinatal Form |
16 |
1007 |
|
THR030 |
Thoraco Abdominal Enteric Duplication |
16 |
1008 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
16 |
1009 |
|
KLN003 |
Kaolin Pneumoconiosis |
15 |
1010 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
15 |
1011 |
c
|
FRN009 |
Frontal Sinus Cancer |
15 |
1012 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
15 |
1013 |
c
|
INF136 |
Influenza, Severe |
14 |
1014 |
c
|
PMG002 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
14 |
1015 |
c
|
ACQ036 |
Acquired Angioedema Type 2 |
14 |
1016 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
14 |
1017 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
1018 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
14 |
1019 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
14 |
1020 |
|
ISL036 |
Isolated Pulmonary Capillaritis |
14 |
1021 |
c
|
CNG397 |
Congenital Pulmonary Airway Malformation Type 3 |
13 |
1022 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
13 |
1023 |
|
GRP001 |
Graphite Pneumoconiosis |
13 |
1024 |
c
|
THY119 |
Thyrotoxic Periodic Paralysis 3 |
12 |
1025 |
c
|
PRM166 |
Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies |
12 |
1026 |
P
|
IDP090 |
Idiopathic Eosinophilic Pneumonia |
12 |
1027 |
c
|
CNG257 |
Congenital Pulmonary Sequestration |
12 |
1028 |
|
DRG027 |
Drug- or Toxin-Induced Pulmonary Arterial Hypertension |
11 |
1029 |
c
|
CNG405 |
Congenital Pulmonary Airway Malformation Type 4 |
11 |
1030 |
|
MSH001 |
Mushroom Workers' Lung |
10 |
1031 |
|
PLM187 |
Pulmonary Arterial Hypertension Associated with Schistosomiasis |
10 |
1032 |
|
XLN246 |
X-Linked Retinitis Pigmentosa and Sinorespiratory Infections |
10 |
1033 |
|
PLM185 |
Pulmonary Arterial Hypertension Associated with Hiv Infection |
10 |
1034 |
|
SGL001 |
Siegler Brewer Carey Syndrome |
10 |
1035 |
|
PRN003 |
Paranasal Sinus Sarcoma |
9 |
1036 |
|
TRN052 |
Transient Hyperammonemia of the Newborn |
9 |
1037 |
|
LRY008 |
Larynx Liposarcoma |
9 |
1038 |
c
|
ACQ035 |
Acquired Angioedema Type 1 |
8 |
1039 |
|
ETH002 |
Ethmoid Sinus Adenoid Cystic Carcinoma |
8 |
1040 |
c
|
CNG476 |
Congenital Systemic Arteriovenous Fistula |
8 |
1041 |
|
MXD043 |
Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma |
8 |
1042 |
|
SBG003 |
Subglottis Verrucous Carcinoma |
7 |
1043 |
P
|
INT354 |
Interstitial Lung Disease Specific to Childhood |
7 |
1044 |
P
|
INT353 |
Interstitial Lung Disease in Childhood and Adulthood |
7 |
1045 |
|
GLT003 |
Glottis Verrucous Carcinoma |
7 |
1046 |
|
SPR015 |
Supraglottis Verrucous Carcinoma |
7 |
1047 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
1048 |
|
MXL003 |
Maxillary Sinus Schneiderian Papilloma |
7 |
1049 |
|
SMD014 |
Samd9l-Associated Autoinflammatory Syndrome |
7 |
1050 |
|
LRY001 |
Larynx Leiomyoma |
6 |
1051 |
|
BRN010 |
Bronchial Mucus Gland Adenoma |
6 |
1052 |
|
UNS002 |
Unspecified Juvenile Idiopathic Arthritis |
6 |
1053 |
c
|
SCN079 |
Secondary Interstitial Lung Disease in Childhood and Adulthood |
6 |
1054 |
|
SPH004 |
Sphenoid Sinus Schneiderian Papilloma |
6 |
1055 |
|
ETH015 |
Ethmoidal Sinus Benign Neoplasm |
6 |
1056 |
|
OCC014 |
Occupational Allergic Alveolitis |
6 |
1057 |
|
INT186 |
Intralobar Congenital Pulmonary Sequestration |
6 |
1058 |
P
|
INT352 |
Interstitial Lung Disease Specific to Adulthood |
5 |
1059 |
|
DRG018 |
Drug or Radiation Exposure-Related Interstitial Lung Disease |
5 |
1060 |
|
NSL001 |
Nasal Cavity Inverting Papilloma |
5 |
1061 |
|
TLN015 |
Toluene Meta-Diisocyanate Allergic Asthma |
5 |
1062 |
|
HXM001 |
Hexamethylene Diisocyanate Allergic Asthma |
5 |
1063 |
c
|
PRM309 |
Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder |
4 |
1064 |
|
PLM192 |
Pulmonary Hypertension with Unclear Multifactorial Mechanism |
4 |
1065 |
|
SCN078 |
Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease |
4 |
1066 |
c
|
PRM307 |
Primary Interstitial Lung Disease Specific to Adulthood |
4 |
1067 |
|
SCN072 |
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease |
4 |
1068 |
|
SCN073 |
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease |
4 |
1069 |
|
NCK003 |
Nickel Allergic Asthma |
4 |
1070 |
|
TLN016 |
Toluene 2,4-Diisocyanate Allergic Asthma |
3 |
1071 |
|
PLM107 |
Pulmonary Fungal Infections in Patients Deemed at Risk |
3 |
1072 |
|
RRB010 |
Rare Bronchopulmonary Tumor |
3 |
1073 |
|
RSP025 |
Respiratory or Thoracic Malformation |
3 |
1074 |
|
SYN108 |
Syndrome with Pulmonary Hypertension As a Major Feature |
3 |
1075 |
P
|
SPN408 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
55 |
1076 |
c
|
SPN191 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
40 |
1077 |
c
|
SPN326 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
34 |
1078 |
c
|
SPN355 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
34 |
1079 |
c
|
SPN255 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
29 |
1080 |
c
|
SPN465 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
22 |
1081 |
c
|
PLM195 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 |
20 |
1082 |
|
RRL004 |
Rare Allergic Respiratory Disease |
4 |
1083 |
P
|
PLY170 |
Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease |
67 |
1084 |
c
|
PLY168 |
Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease |
66 |
1085 |
c
|
PLY172 |
Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease |
54 |
1086 |
c
|
PLY171 |
Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease |
44 |
1087 |
|
NRD129 |
Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties |
32 |
1088 |
c
|
PLY177 |
Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease |
23 |
1089 |
|
IMM078 |
Immunodeficiency 21 |
59 |
1090 |
|
PRR007 |
Perry Syndrome |
52 |
1091 |
|
IMM249 |
Immunodeficiency 83 Viral Infections |
28 |
1092 |
|
NRD094 |
Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation |
25 |
1093 |
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
1094 |
P
|
HYP035 |
Hypophosphatasia |
62 |
1095 |
c
|
HYP293 |
Hypophosphatasia, Adult |
60 |
1096 |
P
|
ULL002 |
Ullrich Congenital Muscular Dystrophy 1 |
60 |
1097 |
P
|
CTS001 |
Cutis Laxa |
57 |
1098 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
57 |
1099 |
c
|
SPN393 |
Spinal Muscular Atrophy, Type I |
55 |
1100 |
|
CRB186 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to |
55 |
1101 |
c
|
HYP292 |
Hypophosphatasia, Infantile |
53 |
1102 |
c
|
SPN394 |
Spinal Muscular Atrophy, Type Iii |
52 |
1103 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
52 |
1104 |
|
INT258 |
Interstitial Nephritis, Karyomegalic |
49 |
1105 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
48 |
1106 |
|
MYP056 |
Myopathy, X-Linked, with Postural Muscle Atrophy |
47 |
1107 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
1108 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
47 |
1109 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
46 |
1110 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
1111 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
45 |
1112 |
c
|
JBR042 |
Joubert Syndrome 23 |
44 |
1113 |
c
|
SPN398 |
Spinal Muscular Atrophy, Type Iv |
43 |
1114 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
42 |
1115 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
39 |
1116 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
39 |
1117 |
|
MYP038 |
Myopathy, Congenital, Compton-North |
35 |
1118 |
|
IMM055 |
Immunodeficiency, Common Variable, 8, with Autoimmunity |
35 |
1119 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
35 |
1120 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
35 |
1121 |
|
SYN175 |
Syndromic X-Linked Intellectual Disability Lubs Type |
34 |
1122 |
|
RTN145 |
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis |
34 |
1123 |
c
|
CTS048 |
Cutis Laxa, Autosomal Recessive, Type Iie |
31 |
1124 |
|
ECT089 |
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia |
29 |
1125 |
c
|
ULL003 |
Ullrich Congenital Muscular Dystrophy 2 |
29 |
1126 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
1127 |
c
|
DVL095 |
Developmental and Epileptic Encephalopathy 71 |
24 |
1128 |
c
|
SPN444 |
Spinal Muscular Atrophy Type 0 |
23 |
1129 |
c
|
ACQ027 |
Acquired Cutis Laxa |
20 |
1130 |
|
THY044 |
Thymic-Renal-Anal-Lung Dysplasia |
19 |
1131 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
19 |
1132 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
18 |
1133 |
c
|
ELN002 |
Eln-Related Cutis Laxa |
14 |
1134 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
13 |
1135 |
c
|
CNG061 |
Congenital Benign Spinal Muscular Atrophy Dominant |
3 |
1136 |
|
PLM055 |
Pulmonary Artery Familial Dilatation |
2 |
1137 |
|
CYS001 |
Cystic Fibrosis |
78 |
1138 |
P
|
AST005 |
Asthma |
76 |
1139 |
|
PLM129 |
Pulmonary Disease, Chronic Obstructive |
74 |
1140 |
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
1141 |
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
71 |
1142 |
|
LYM007 |
Lymphangioleiomyomatosis |
68 |
1143 |
|
BRN024 |
Bronchitis |
67 |
1144 |
P
|
PNM007 |
Pneumonia |
67 |
1145 |
c
|
FML001 |
Familial Atrial Fibrillation |
67 |
1146 |
c
|
PRG042 |
Progressive Familial Heart Block, Type Ia |
67 |
1147 |
P
|
SJG008 |
Sjogren Syndrome |
65 |
1148 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
65 |
1149 |
c
|
ATS013 |
Autosomal Recessive Congenital Ichthyosis |
64 |
1150 |
|
LNG099 |
Lung Disease |
64 |
1151 |
c
|
NMN016 |
Niemann-Pick Disease, Type B |
62 |
1152 |
P
|
MYC008 |
Myocarditis |
62 |
1153 |
c
|
DVL042 |
Developmental and Epileptic Encephalopathy 14 |
62 |
1154 |
c
|
DVL030 |
Developmental and Epileptic Encephalopathy 36 |
61 |
1155 |
|
ARR042 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
61 |
1156 |
P
|
CRN323 |
Cranioectodermal Dysplasia |
60 |
1157 |
P
|
SLP005 |
Sleep Disorder |
59 |
1158 |
c
|
ICH047 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
59 |
1159 |
|
NWB001 |
Newborn Respiratory Distress Syndrome |
58 |
1160 |
P
|
VNT002 |
Ventricular Septal Defect |
58 |
1161 |
|
BRN056 |
Bronchopulmonary Dysplasia |
57 |
1162 |
c
|
DVL033 |
Developmental and Epileptic Encephalopathy 1 |
57 |
1163 |
c
|
PRM012 |
Primary Polycythemia |
57 |
1164 |
|
ALL006 |
Allergic Asthma |
57 |
1165 |
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
56 |
1166 |
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
56 |
1167 |
|
TNS005 |
Tonsillitis |
55 |
1168 |
|
SYS034 |
Systemic Onset Juvenile Idiopathic Arthritis |
55 |
1169 |
|
BRN015 |
Bronchiolo-Alveolar Adenocarcinoma |
55 |
1170 |
|
LNG111 |
Lung Non-Squamous Non-Small Cell Carcinoma |
55 |
1171 |
P
|
PLY018 |
Polycythemia |
55 |
1172 |
c
|
JBR041 |
Joubert Syndrome 3 |
55 |
1173 |
c
|
PRG043 |
Progressive Familial Heart Block, Type Ib |
54 |
1174 |
c
|
DVL038 |
Developmental and Epileptic Encephalopathy 7 |
54 |
1175 |
P
|
ICH004 |
Ichthyosis |
54 |
1176 |
|
RSP019 |
Respiratory Distress Syndrome in Premature Infants |
54 |
1177 |
c
|
BCT013 |
Bacterial Pneumonia |
53 |
1178 |
c
|
PRG126 |
Progressive Familial Heart Block |
53 |
1179 |
|
LNG020 |
Lung Oat Cell Carcinoma |
53 |
1180 |
|
IDP011 |
Idiopathic Interstitial Pneumonia |
53 |
1181 |
P
|
LNG035 |
Lung Large Cell Carcinoma |
53 |
1182 |
c
|
DVL029 |
Developmental and Epileptic Encephalopathy 2 |
53 |
1183 |
c
|
ICH069 |
Ichthyosis, Congenital, Autosomal Recessive 4b |
52 |
1184 |
|
STR008 |
Strongyloidiasis |
52 |
1185 |
c
|
DVL027 |
Developmental and Epileptic Encephalopathy 9 |
52 |
1186 |
c
|
LYM145 |
Lymphatic Malformation 5 |
52 |
1187 |
|
TRC097 |
Tracheomalacia |
52 |
1188 |
|
MYC087 |
Mycoplasma Pneumoniae Pneumonia |
52 |
1189 |
|
PLM017 |
Pulmonary Alveolar Microlithiasis |
52 |
1190 |
|
ASP007 |
Aspiration Pneumonia |
52 |
1191 |
P
|
DVL113 |
Developmental and Epileptic Encephalopathy |
51 |
1192 |
|
ANT018 |
Anthracosis |
51 |
1193 |
|
LNG031 |
Lung Benign Neoplasm |
51 |
1194 |
P
|
BRN120 |
Bronchus Cancer |
50 |
1195 |
c
|
DVL041 |
Developmental and Epileptic Encephalopathy 13 |
50 |
1196 |
|
LNG017 |
Lung Giant Cell Carcinoma |
50 |
1197 |
c
|
MLG079 |
Malignant Pleural Mesothelioma |
50 |
1198 |
c
|
HRM009 |
Hermansky-Pudlak Syndrome 6 |
50 |
1199 |
|
LNG115 |
Lung Sarcomatoid Carcinoma |
50 |
1200 |
c
|
JBR004 |
Joubert Syndrome 2 |
50 |
1201 |
|
ANT039 |
Antisynthetase Syndrome |
49 |
1202 |
c
|
CRN108 |
Cranioectodermal Dysplasia 1 |
49 |
1203 |
c
|
SPN395 |
Spinal Muscular Atrophy, Type Ii |
49 |
1204 |
c
|
ICH051 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
49 |
1205 |
|
ACT017 |
Acute Chest Syndrome |
49 |
1206 |
c
|
JBR012 |
Joubert Syndrome 5 |
48 |
1207 |
|
IMM081 |
Immunodeficiency 19 |
48 |
1208 |
c
|
LYM144 |
Lymphatic Malformation 1 |
48 |
1209 |
c
|
JBR013 |
Joubert Syndrome 8 |
48 |
1210 |
|
ASP008 |
Aspiration Pneumonitis |
48 |
1211 |
c
|
ICH049 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
48 |
1212 |
|
OBS037 |
Obesity-Hypoventilation Syndrome |
47 |
1213 |
c
|
JBR025 |
Joubert Syndrome 17 |
47 |
1214 |
c
|
DVL035 |
Developmental and Epileptic Encephalopathy 4 |
47 |
1215 |
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
47 |
1216 |
c
|
JBR024 |
Joubert Syndrome 14 |
47 |
1217 |
P
|
C3G002 |
C3 Glomerulopathy |
46 |
1218 |
c
|
JBR035 |
Joubert Syndrome 24 |
46 |
1219 |
|
LRY015 |
Laryngeal Benign Neoplasm |
46 |
1220 |
c
|
JBR043 |
Joubert Syndrome 32 |
46 |
1221 |
c
|
CHR576 |
Chronic Beryllium Disease |
46 |
1222 |
c
|
JBR031 |
Joubert Syndrome 21 |
46 |
1223 |
c
|
GRN061 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
46 |
1224 |
|
FSC002 |
Fascioliasis |
46 |
1225 |
|
HYL005 |
Hyaline Body Myopathy |
46 |
1226 |
c
|
ACT076 |
Acute Myocarditis |
46 |
1227 |
c
|
DVL118 |
Developmental and Epileptic Encephalopathy 94 |
46 |
1228 |
c
|
DVL048 |
Developmental and Epileptic Encephalopathy 21 |
45 |
1229 |
P
|
PRN020 |
Paranasal Sinus Cancer |
45 |
1230 |
c
|
JBR022 |
Joubert Syndrome 20 |
45 |
1231 |
c
|
DVL039 |
Developmental and Epileptic Encephalopathy 11 |
45 |
1232 |
c
|
JBR011 |
Joubert Syndrome 7 |
45 |
1233 |
P
|
SDR002 |
Siderosis |
45 |
1234 |
c
|
ICH038 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
45 |
1235 |
|
HRT015 |
Heritable Pulmonary Arterial Hypertension |
45 |
1236 |
c
|
CRN111 |
Cranioectodermal Dysplasia 4 |
45 |
1237 |
|
PLR022 |
Pleural Disease |
45 |
1238 |
|
TRC020 |
Tracheitis |
45 |
1239 |
c
|
ICH040 |
Ichthyosis, Congenital, Autosomal Recessive 4a |
44 |
1240 |
c
|
DVL056 |
Developmental and Epileptic Encephalopathy 30 |
44 |
1241 |
c
|
DVL068 |
Developmental and Epileptic Encephalopathy 43 |
44 |
1242 |
c
|
DVL099 |
Developmental and Epileptic Encephalopathy 75 |
43 |
1243 |
c
|
ACQ010 |
Acquired Polycythemia |
43 |
1244 |
c
|
JBR018 |
Joubert Syndrome 4 |
43 |
1245 |
c
|
JBR016 |
Joubert Syndrome 10 |
43 |
1246 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
43 |
1247 |
|
PRT011 |
Protein C Deficiency |
43 |
1248 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
43 |
1249 |
c
|
DVL067 |
Developmental and Epileptic Encephalopathy 42 |
43 |
1250 |
P
|
CLC057 |
Cole-Carpenter Syndrome |
43 |
1251 |
c
|
DVL044 |
Developmental and Epileptic Encephalopathy 16 |
43 |
1252 |
P
|
HRT035 |
Heart Block, Congenital |
42 |
1253 |
c
|
DVL077 |
Developmental and Epileptic Encephalopathy 53 |
42 |
1254 |
c
|
NML002 |
Nemaline Myopathy 1 |
42 |
1255 |
|
BRY001 |
Berylliosis |
42 |
1256 |
c
|
DVL076 |
Developmental and Epileptic Encephalopathy 52 |
42 |
1257 |
c
|
DVL037 |
Developmental and Epileptic Encephalopathy 5 |
42 |
1258 |
c
|
LYM161 |
Lymphatic Malformation 12 |
42 |
1259 |
c
|
ATM022 |
Autoimmune Myocarditis |
42 |
1260 |
c
|
DVL049 |
Developmental and Epileptic Encephalopathy 23 |
42 |
1261 |
c
|
DVL062 |
Developmental and Epileptic Encephalopathy 35 |
42 |
1262 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
41 |
1263 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
41 |
1264 |
|
NNS002 |
Nonspecific Interstitial Pneumonia |
41 |
1265 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
41 |
1266 |
|
CNG134 |
Congenitally Corrected Transposition of the Great Arteries |
41 |
1267 |
c
|
DVL072 |
Developmental and Epileptic Encephalopathy 47 |
41 |
1268 |
P
|
NSL008 |
Nasal Cavity Cancer |
41 |
1269 |
|
PNM002 |
Pneumonic Tularemia |
40 |
1270 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
40 |
1271 |
c
|
JBR030 |
Joubert Syndrome 22 |
40 |
1272 |
|
INT271 |
Interstitial Lung and Liver Disease |
40 |
1273 |
c
|
PST041 |
Posterior Urethral Valves |
40 |
1274 |
c
|
DVL100 |
Developmental and Epileptic Encephalopathy 76 |
40 |
1275 |
c
|
DVL045 |
Developmental and Epileptic Encephalopathy 17 |
40 |
1276 |
c
|
DVL064 |
Developmental and Epileptic Encephalopathy 38 |
40 |
1277 |
c
|
DVL034 |
Developmental and Epileptic Encephalopathy 3 |
39 |
1278 |
c
|
DVL061 |
Developmental and Epileptic Encephalopathy 34 |
39 |
1279 |
c
|
DVL098 |
Developmental and Epileptic Encephalopathy 74 |
39 |
1280 |
c
|
JBR028 |
Joubert Syndrome 13 |
39 |
1281 |
c
|
DVL052 |
Developmental and Epileptic Encephalopathy 26 |
39 |
1282 |
c
|
DVL028 |
Developmental and Epileptic Encephalopathy 8 |
39 |
1283 |
c
|
JBR037 |
Joubert Syndrome 26 |
39 |
1284 |
c
|
JBR027 |
Joubert Syndrome 16 |
39 |
1285 |
|
LFF001 |
Loeffler Endocarditis |
39 |
1286 |
c
|
DVL040 |
Developmental and Epileptic Encephalopathy 12 |
39 |
1287 |
c
|
DVL103 |
Developmental and Epileptic Encephalopathy 80 |
39 |
1288 |
c
|
CLR066 |
Ciliary Dyskinesia, Primary, 2 |
38 |
1289 |
c
|
DVL073 |
Developmental and Epileptic Encephalopathy 48 |
38 |
1290 |
c
|
CRN109 |
Cranioectodermal Dysplasia 2 |
38 |
1291 |
|
CMB091 |
Combined Oxidative Phosphorylation Deficiency 39 |
38 |
1292 |
|
NMD001 |
Nmda Receptor Encephalitis |
38 |
1293 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
38 |
1294 |
|
LRG014 |
Large Cell Neuroendocrine Carcinoma |
38 |
1295 |
c
|
FTL070 |
Fetal Akinesia Deformation Sequence 2 |
38 |
1296 |
c
|
DVL109 |
Developmental and Epileptic Encephalopathy 87 |
38 |
1297 |
c
|
DVL060 |
Developmental and Epileptic Encephalopathy 50 |
38 |
1298 |
c
|
DVL053 |
Developmental and Epileptic Encephalopathy 27 |
38 |
1299 |
c
|
CLR091 |
Ciliary Dyskinesia, Primary, 14 |
38 |
1300 |
c
|
DVL043 |
Developmental and Epileptic Encephalopathy 15 |
38 |
1301 |
|
SRF006 |
Surfactant Dysfunction |
37 |
1302 |
c
|
JBR036 |
Joubert Syndrome 25 |
37 |
1303 |
|
GST052 |
Gestational Choriocarcinoma |
37 |
1304 |
c
|
DVL055 |
Developmental and Epileptic Encephalopathy 29 |
37 |
1305 |
c
|
JBR021 |
Joubert Syndrome 18 |
37 |
1306 |
|
BRD003 |
Bird Fancier's Lung |
37 |
1307 |
c
|
DVL050 |
Developmental and Epileptic Encephalopathy 24 |
37 |
1308 |
c
|
DVL078 |
Developmental and Epileptic Encephalopathy 54 |
36 |
1309 |
c
|
DVL079 |
Developmental and Epileptic Encephalopathy 55 |
36 |
1310 |
c
|
JBR040 |
Joubert Syndrome 30 |
36 |
1311 |
c
|
DVL069 |
Developmental and Epileptic Encephalopathy 44 |
36 |
1312 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
36 |
1313 |
c
|
DVL097 |
Developmental and Epileptic Encephalopathy 73 |
36 |
1314 |
|
CYS021 |
Cystic Adenomatoid Malformation of Lung |
36 |
1315 |
c
|
ICH050 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
36 |
1316 |
|
SPR006 |
Sparganosis |
35 |
1317 |
|
LNG091 |
Lung Mucoepidermoid Carcinoma |
35 |
1318 |
c
|
JBR045 |
Joubert Syndrome 33 |
35 |
1319 |
P
|
TRC024 |
Trachea Carcinoma |
35 |
1320 |
|
LNG011 |
Lung Adenoid Cystic Carcinoma |
35 |
1321 |
|
PNB004 |
Panbronchiolitis, Diffuse |
34 |
1322 |
c
|
LYM150 |
Lymphatic Malformation 7 |
34 |
1323 |
|
PLM180 |
Pulmonary Artery Disease |
34 |
1324 |
c
|
DVL054 |
Developmental and Epileptic Encephalopathy 28 |
34 |
1325 |
c
|
CLR101 |
Ciliary Dyskinesia, Primary, 25 |
34 |
1326 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
34 |
1327 |
c
|
CLR095 |
Ciliary Dyskinesia, Primary, 19 |
34 |
1328 |
|
GLY033 |
Glycogen Storage Disease of Heart, Lethal Congenital |
34 |
1329 |
|
SPR021 |
Supraglottis Cancer |
34 |
1330 |
c
|
DVL059 |
Developmental and Epileptic Encephalopathy 33 |
34 |
1331 |
c
|
JBR014 |
Joubert Syndrome 9 |
34 |
1332 |
c
|
DVL090 |
Developmental and Epileptic Encephalopathy 66 |
34 |
1333 |
c
|
DVL057 |
Developmental and Epileptic Encephalopathy 31 |
34 |
1334 |
c
|
ICH042 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
34 |
1335 |
c
|
LYM149 |
Lymphatic Malformation 6 |
34 |
1336 |
|
BSL003 |
Basaloid Lung Carcinoma |
34 |
1337 |
c
|
ICH048 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
33 |
1338 |
|
BRN055 |
Bronchogenic Cyst |
33 |
1339 |
c
|
DVL089 |
Developmental and Epileptic Encephalopathy 65 |
33 |
1340 |
c
|
VNT028 |
Ventricular Septal Defect 1 |
33 |
1341 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
33 |
1342 |
c
|
ICH045 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
33 |
1343 |
c
|
ICH039 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
33 |
1344 |
|
TRC025 |
Tracheal Cancer |
33 |
1345 |
c
|
DVL084 |
Developmental and Epileptic Encephalopathy 60 |
33 |
1346 |
|
NRD108 |
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities |
32 |
1347 |
c
|
DVL046 |
Developmental and Epileptic Encephalopathy 18 |
32 |
1348 |
|
LRG005 |
Large Cell Carcinoma with Rhabdoid Phenotype |
31 |
1349 |
c
|
FTL071 |
Fetal Akinesia Deformation Sequence 3 |
31 |
1350 |
c
|
DVL129 |
Developmental and Epileptic Encephalopathy 25 |
31 |
1351 |
|
IMM196 |
Immunodeficiency 15a |
31 |
1352 |
|
FBR097 |
Fibrosis, Neurodegeneration, and Cerebral Angiomatosis |
31 |
1353 |
P
|
RRL003 |
Rare Lymphatic Malformation |
31 |
1354 |
c
|
DVL119 |
Developmental and Epileptic Encephalopathy 6b |
31 |
1355 |
|
EMP011 |
Emphysema, Congenital Lobar |
31 |
1356 |
|
IDP092 |
Idiopathic/heritable Pulmonary Arterial Hypertension |
31 |
1357 |
P
|
BNG022 |
Benign Pleural Mesothelioma |
31 |
1358 |
c
|
DVL114 |
Developmental and Epileptic Encephalopathy 91 |
31 |
1359 |
|
PRN032 |
Paraneoplastic Cerebellar Degeneration |
30 |
1360 |
|
PLM028 |
Pulmonary Coin Lesion |
30 |
1361 |
|
PLM007 |
Pulmonary Aspergilloma |
30 |
1362 |
c
|
JBR039 |
Joubert Syndrome 28 |
30 |
1363 |
c
|
ACQ076 |
Acquired Ichthyosis |
30 |
1364 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
30 |
1365 |
|
TRC001 |
Trachea Leiomyoma |
30 |
1366 |
c
|
DVL063 |
Developmental and Epileptic Encephalopathy 37 |
30 |
1367 |
c
|
DVL107 |
Developmental and Epileptic Encephalopathy 84 |
30 |
1368 |
|
MYP099 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
30 |
1369 |
|
LGN005 |
Ligneous Conjunctivitis |
30 |
1370 |
c
|
TRC002 |
Trachea Carcinoma in Situ |
29 |
1371 |
|
SMR006 |
Smarca4-Deficient Sarcoma of Thorax |
29 |
1372 |
|
RGH006 |
Right Aortic Arch |
29 |
1373 |
|
BRT013 |
Baritosis |
29 |
1374 |
c
|
DVL080 |
Developmental and Epileptic Encephalopathy 56 |
28 |
1375 |
c
|
DVL058 |
Developmental and Epileptic Encephalopathy 32 |
28 |
1376 |
|
NSL003 |
Nasal Cavity Adenocarcinoma |
28 |
1377 |
|
MCR310 |
Microgastria-Limb Reduction Defects Association |
28 |
1378 |
|
MXL008 |
Maxillary Sinus Cancer |
28 |
1379 |
c
|
NRP065 |
Neuropathy, Congenital Hypomyelinating, 3 |
28 |
1380 |
c
|
DVL071 |
Developmental and Epileptic Encephalopathy 46 |
28 |
1381 |
c
|
DVL112 |
Developmental and Epileptic Encephalopathy 89 |
28 |
1382 |
c
|
CRN110 |
Cranioectodermal Dysplasia 3 |
27 |
1383 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
27 |
1384 |
c
|
ICH044 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
27 |
1385 |
c
|
CLC056 |
Cole-Carpenter Syndrome 1 |
27 |
1386 |
|
PRD048 |
Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome |
27 |
1387 |
c
|
C3G003 |
C3 Glomerulopathy 3 |
27 |
1388 |
c
|
DVL066 |
Developmental and Epileptic Encephalopathy 41 |
27 |
1389 |
c
|
PRG101 |
Progressive Familial Heart Block, Type Ii |
27 |
1390 |
c
|
DVL094 |
Developmental and Epileptic Encephalopathy 70 |
27 |
1391 |
c
|
JBR044 |
Joubert Syndrome 31 |
27 |
1392 |
c
|
DVL093 |
Developmental and Epileptic Encephalopathy 69 |
27 |
1393 |
c
|
DVL120 |
Developmental and Epileptic Encephalopathy 95 |
27 |
1394 |
|
BGS001 |
Bagassosis |
27 |
1395 |
c
|
DVL086 |
Developmental and Epileptic Encephalopathy 62 |
27 |
1396 |
c
|
DVL088 |
Developmental and Epileptic Encephalopathy 64 |
27 |
1397 |
|
STR029 |
Sternal Cleft |
27 |
1398 |
c
|
DVL074 |
Developmental and Epileptic Encephalopathy 49 |
27 |
1399 |
c
|
DVL116 |
Developmental and Epileptic Encephalopathy 93 |
27 |
1400 |
|
LNG019 |
Lung Combined Type Small Cell Carcinoma |
27 |
1401 |
c
|
DVL047 |
Developmental and Epileptic Encephalopathy 19 |
27 |
1402 |
c
|
DVL101 |
Developmental and Epileptic Encephalopathy 78 |
27 |
1403 |
c
|
DVL092 |
Developmental and Epileptic Encephalopathy 68 |
26 |
1404 |
c
|
DVL091 |
Developmental and Epileptic Encephalopathy 67 |
26 |
1405 |
c
|
DVL083 |
Developmental and Epileptic Encephalopathy 59 |
26 |
1406 |
c
|
DVL075 |
Developmental and Epileptic Encephalopathy 51 |
26 |
1407 |
c
|
DVL104 |
Developmental and Epileptic Encephalopathy 81 |
26 |
1408 |
|
PLM002 |
Pulmonary Plasma Cell Granuloma |
26 |
1409 |
c
|
CLR053 |
Ciliary Dyskinesia, Primary, 11 |
26 |
1410 |
c
|
DVL115 |
Developmental and Epileptic Encephalopathy 92 |
26 |
1411 |
|
SPL054 |
Splenogonadal Fusion with Limb Defects and Micrognathia |
26 |
1412 |
|
FBR028 |
Fibrosing Mediastinitis |
26 |
1413 |
c
|
DVL127 |
Developmental and Epileptic Encephalopathy 98 |
26 |
1414 |
c
|
DVL128 |
Developmental and Epileptic Encephalopathy 99 |
26 |
1415 |
c
|
JBR049 |
Joubert Syndrome 37 |
26 |
1416 |
c
|
DVL070 |
Developmental and Epileptic Encephalopathy 45 |
26 |
1417 |
c
|
DVL081 |
Developmental and Epileptic Encephalopathy 57 |
25 |
1418 |
c
|
CLC055 |
Cole-Carpenter Syndrome 2 |
25 |
1419 |
|
CPL001 |
Capillariasis |
25 |
1420 |
|
APN006 |
Apnea of Prematurity |
25 |
1421 |
c
|
DVL106 |
Developmental and Epileptic Encephalopathy 83 |
25 |
1422 |
c
|
DVL102 |
Developmental and Epileptic Encephalopathy 79 |
25 |
1423 |
c
|
DVL032 |
Developmental and Epileptic Encephalopathy 90 |
25 |
1424 |
|
TMP008 |
Tempi Syndrome |
25 |
1425 |
c
|
DVL131 |
Developmental and Epileptic Encephalopathy 100 |
25 |
1426 |
c
|
DVL105 |
Developmental and Epileptic Encephalopathy 82 |
25 |
1427 |
c
|
DVL085 |
Developmental and Epileptic Encephalopathy 61 |
25 |
1428 |
|
FCL042 |
Facial Onset Sensory and Motor Neuronopathy |
25 |
1429 |
c
|
DVL087 |
Developmental and Epileptic Encephalopathy 63 |
24 |
1430 |
c
|
JBR047 |
Joubert Syndrome 35 |
24 |
1431 |
c
|
DVL110 |
Developmental and Epileptic Encephalopathy 88 |
24 |
1432 |
c
|
DVL065 |
Developmental and Epileptic Encephalopathy 40 |
24 |
1433 |
c
|
JBR038 |
Joubert Syndrome 27 |
24 |
1434 |
|
LRY011 |
Larynx Verrucous Carcinoma |
24 |
1435 |
|
RHZ008 |
Rhizomelic Syndrome |
24 |
1436 |
c
|
LYM147 |
Lymphatic Malformation 3 |
24 |
1437 |
c
|
LYM148 |
Lymphatic Malformation 4 |
24 |
1438 |
|
SPN447 |
Spinal Muscular Atrophy, Infantile, James Type |
24 |
1439 |
c
|
DVL096 |
Developmental and Epileptic Encephalopathy 72 |
24 |
1440 |
|
PRQ002 |
Paraquat Poisoning |
24 |
1441 |
|
EPG001 |
Epiglottis Neoplasm |
24 |
1442 |
|
DCR010 |
Dicer1 Tumor Predisposition |
23 |
1443 |
c
|
ATS209 |
Autosomal Dominant Secondary Polycythemia |
23 |
1444 |
P
|
LNG021 |
Lung Occult Small Cell Carcinoma |
23 |
1445 |
|
LYM001 |
Lymphohistiocytoid Mesothelioma |
23 |
1446 |
c
|
JBR048 |
Joubert Syndrome 36 |
23 |
1447 |
|
LNG016 |
Lung Papillary Adenocarcinoma |
23 |
1448 |
c
|
DVL082 |
Developmental and Epileptic Encephalopathy 58 |
23 |
1449 |
|
CNG624 |
Congenital Heart Defects, Multiple Types, 8, with or Without Heterotaxy |
23 |
1450 |
|
SHK001 |
Shaken Baby Syndrome |
23 |
1451 |
c
|
ICH072 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
23 |
1452 |
c
|
JBR051 |
Joubert Syndrome 39 |
23 |
1453 |
c
|
DVL132 |
Developmental and Epileptic Encephalopathy 101 |
22 |
1454 |
|
EPG002 |
Epiglottis Cancer |
22 |
1455 |
|
NSL004 |
Nasal Cavity Lymphoma |
22 |
1456 |
c
|
DVL124 |
Developmental and Epileptic Encephalopathy 97 |
22 |
1457 |
|
LRY010 |
Laryngeal Adenoid Cystic Carcinoma |
22 |
1458 |
c
|
JBR052 |
Joubert Syndrome 40 |
22 |
1459 |
c
|
RHM033 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
22 |
1460 |
c
|
DVL121 |
Developmental and Epileptic Encephalopathy 96 |
22 |
1461 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
1462 |
c
|
DVL134 |
Developmental and Epileptic Encephalopathy 102 |
22 |
1463 |
c
|
DVL135 |
Developmental and Epileptic Encephalopathy 103 |
21 |
1464 |
c
|
ICH070 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
21 |
1465 |
c
|
LYM155 |
Lymphatic Malformation 8 |
21 |
1466 |
c
|
LYM159 |
Lymphatic Malformation 10 |
21 |
1467 |
c
|
DVL141 |
Developmental and Epileptic Encephalopathy 106 |
21 |
1468 |
c
|
DVL108 |
Developmental and Epileptic Encephalopathy 86 |
21 |
1469 |
|
MTC223 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
20 |
1470 |
|
SCN068 |
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease |
20 |
1471 |
c
|
DVL136 |
Developmental and Epileptic Encephalopathy 104 |
20 |
1472 |
c
|
MSC199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
20 |
1473 |
|
LRY003 |
Laryngeal Mucoepidermoid Carcinoma |
20 |
1474 |
|
DPH031 |
Diaphragmatic Hernia 4, with Cardiovascular Defects |
20 |
1475 |
|
IMM265 |
Immunodeficiency 95 |
20 |
1476 |
|
CNG108 |
Congenital Mitral Stenosis |
20 |
1477 |
|
MCN021 |
Mucinous Bronchioloalveolar Adenocarcinoma |
20 |
1478 |
|
LNG036 |
Lung Leiomyoma |
20 |
1479 |
|
IMM238 |
Immunodeficiency 77 |
19 |
1480 |
|
CLR148 |
Ciliary Dyskinesia, Primary, 47, and Lissencephaly |
19 |
1481 |
|
SLD013 |
Solid Adenocarcinoma with Mucin Production |
19 |
1482 |
c
|
DVL142 |
Developmental and Epileptic Encephalopathy 107 |
19 |
1483 |
c
|
INF055 |
Infectious Myocarditis |
19 |
1484 |
c
|
LYM158 |
Lymphatic Malformation 9 |
19 |
1485 |
c
|
ICH071 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
19 |
1486 |
|
CNG243 |
Congenital Subglottic Stenosis |
18 |
1487 |
|
LRY020 |
Larynx Sarcoma |
18 |
1488 |
|
SGN005 |
Signet Ring Lung Adenocarcinoma |
18 |
1489 |
|
MXL018 |
Maxillary Sinus Benign Neoplasm |
18 |
1490 |
|
MTC221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
17 |
1491 |
|
CLS002 |
Classic Pulmonary Blastoma |
17 |
1492 |
c
|
NMN012 |
Niemann-Pick Disease Type C, Juvenile Neurologic Onset |
17 |
1493 |
c
|
CNG621 |
Congenital Myasthenic Syndrome 7 |
17 |
1494 |
c
|
LYM160 |
Lymphatic Malformation 11 |
17 |
1495 |
c
|
INH022 |
Inherited Ichthyosis |
16 |
1496 |
c
|
LYM146 |
Lymphatic Malformation 2 |
16 |
1497 |
|
FRN005 |
Frontal Sinus Squamous Cell Carcinoma |
16 |
1498 |
|
STP010 |
Staphylococcal Necrotizing Pneumonia |
15 |
1499 |
|
TRC017 |
Trachea Squamous Cell Carcinoma |
15 |
1500 |
|
LNG034 |
Lung Hilum Cancer |
15 |
1501 |
|
FTL048 |
Fetal Lung Interstitial Tumor |
14 |
1502 |
|
CCN010 |
Cocaine Embryofetopathy |
14 |
1503 |
c
|
CNG398 |
Congenital Pulmonary Airway Malformation Type 1 |
14 |
1504 |
c
|
LNG006 |
Lung Occult Large Cell Carcinoma |
14 |
1505 |
P
|
LRY049 |
Laryngotracheoesophageal Cleft Type 4 |
14 |
1506 |
P
|
ANT062 |
Anterior Urethral Valve |
14 |
1507 |
P
|
CNG396 |
Congenital Pulmonary Airway Malformation Type 2 |
14 |
1508 |
|
CST006 |
Costocoracoid Ligament, Congenitally Short |
14 |
1509 |
|
OSS015 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
14 |
1510 |
c
|
MXD037 |
Mixed Cryoglobulinemia Type Iii |
13 |
1511 |
c
|
DVL148 |
Developmental and Epileptic Encephalopathy 108 |
13 |
1512 |
|
RRP031 |
Rare Pulmonary Disease |
13 |
1513 |
|
TRC019 |
Trachea Sarcoma |
12 |
1514 |
|
PLM190 |
Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia |
11 |
1515 |
c
|
RRS011 |
Rare Sleep Disorder |
11 |
1516 |
c
|
GRN068 |
Grin2d-Related Developmental and Epileptic Encephalopathy |
11 |
1517 |
|
PDG001 |
Pdgfra-Associated Chronic Eosinophilic Leukemia |
11 |
1518 |
|
LNG005 |
Lung Occult Adenocarcinoma |
11 |
1519 |
c
|
DVL151 |
Developmental and Epileptic Encephalopathy 110 |
11 |
1520 |
c
|
SCN047 |
Secondary Pulmonary Hemosiderosis |
10 |
1521 |
c
|
CNG406 |
Congenital Pulmonary Airway Malformation Type 0 |
10 |
1522 |
|
CNG564 |
Congenital Respiratory-Biliary Fistula |
10 |
1523 |
c
|
DVL150 |
Developmental and Epileptic Encephalopathy 109 |
10 |
1524 |
c
|
LRY009 |
Larynx Carcinoma in Situ |
10 |
1525 |
c
|
CNG266 |
Congenital Secondary Polycythemia |
9 |
1526 |
c
|
NSL007 |
Nasal Cavity Carcinoma in Situ |
9 |
1527 |
c
|
ACQ028 |
Acquired Secondary Polycythemia |
9 |
1528 |
|
SPH006 |
Sphenoid Sinus Squamous Cell Carcinoma |
9 |
1529 |
|
LNG110 |
Lung Mucinous Cystadenocarcinoma |
8 |
1530 |
|
PLM193 |
Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis |
8 |
1531 |
c
|
LRY050 |
Laryngotracheoesophageal Cleft Type 2 |
8 |
1532 |
|
LRY012 |
Laryngeal Cartilage Cancer |
8 |
1533 |
|
GLT001 |
Glottis Neoplasm |
8 |
1534 |
c
|
ATS439 |
Autosomal Ichthyosis Syndrome |
7 |
1535 |
|
PLM191 |
Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia |
7 |
1536 |
c
|
SDR001 |
Siderosis of Eye |
7 |
1537 |
c
|
RRP017 |
Rare Pulmonary Hypertension |
7 |
1538 |
|
SPH008 |
Sphenoidal Sinus Cancer |
7 |
1539 |
c
|
LRY048 |
Laryngotracheoesophageal Cleft Type 0 |
7 |
1540 |
|
EPT004 |
Epithelial Predominant Pulmonary Blastoma |
6 |
1541 |
|
INF192 |
Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia |
6 |
1542 |
|
SPH022 |
Sphenoidal Sinus Benign Neoplasm |
6 |
1543 |
|
INT351 |
Interstitial Lung Disease Specific to Infancy |
6 |
1544 |
c
|
PLY005 |
Polycythemia Due to Hypoxia |
6 |
1545 |
|
EXT047 |
Extralobar Congenital Pulmonary Sequestration |
6 |
1546 |
c
|
PRM308 |
Primary Interstitial Lung Disease in Childhood and Adulthood |
6 |
1547 |
|
ISC018 |
Isocyanates Allergic Asthma |
5 |
1548 |
|
RSP022 |
Respiratory Malformation |
5 |
1549 |
|
HSL001 |
House Allergic Alveolitis |
5 |
1550 |
|
EXP006 |
Exposure-Related Interstitial Lung Disease |
5 |
1551 |
c
|
BRN001 |
Bronchus Carcinoma in Situ |
4 |
1552 |
|
LNG010 |
Lung Clear Cell-Sugar-Tumor |
4 |
1553 |
|
SCN075 |
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis |
4 |
1554 |
c
|
PRM311 |
Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder |
4 |
1555 |
c
|
PRM310 |
Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder |
4 |
1556 |
|
SCN077 |
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease |
4 |
1557 |
c
|
PRM312 |
Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder |
4 |
1558 |
|
CBL010 |
Cobalt Allergic Asthma |
4 |
1559 |
|
TRM027 |
Trimellitic Anhydride Allergic Asthma |
4 |
1560 |
|
MTH085 |
Methyl Isocyanate Allergic Asthma |
4 |
1561 |
|
DPH026 |
Diphenylmethane-4,4'-Diisocyanate Allergic Asthma |
4 |
1562 |
|
SCN076 |
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease |
4 |
1563 |
|
HXH001 |
Hexahydrophthalic Anhydride Allergic Asthma |
4 |
1564 |
|
MRP005 |
Meropenem Allergy |
4 |
1565 |
|
MLC007 |
Maleic Anhydride Allergic Asthma |
4 |
1566 |
|
SCN074 |
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease |
4 |
1567 |
|
CRC002 |
Carcinoma Arising in Nasal Papillomatosis |
4 |
1568 |
|
PHT014 |
Phthalic Anhydride Allergic Asthma |
3 |
1569 |
|
TTR030 |
Tetrachlorophthalic Anhydride Allergic Asthma |
3 |
1570 |
c
|
PRN030 |
Paranasal Sinus Cancer, Adult |
3 |
1571 |
c
|
SJG004 |
Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease |
3 |
1572 |
|
MCR141 |
Mucormycosis |
65 |
1573 |
|
PLG002 |
Plague |
62 |
1574 |
|
ADS001 |
Adiaspiromycosis |
22 |
1575 |
c
|
GCH015 |
Gaucher Disease, Type I |
70 |
1576 |
c
|
SML038 |
Small Cell Cancer of the Lung |
68 |
1577 |
c
|
RHB024 |
Rhabdomyosarcoma 2 |
65 |
1578 |
P
|
RHB003 |
Rhabdomyosarcoma |
65 |
1579 |
P
|
INT066 |
Interstitial Lung Disease |
62 |
1580 |
|
HNC001 |
Henoch-Schoenlein Purpura |
61 |
1581 |
P
|
SHR072 |
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly |
61 |
1582 |
P
|
HYP097 |
Hyperekplexia |
61 |
1583 |
|
CHL028 |
Childhood Type Dermatomyositis |
61 |
1584 |
|
AVN001 |
Avian Influenza |
60 |
1585 |
c
|
CLR131 |
Ciliary Dyskinesia, Primary, 1 |
59 |
1586 |
|
GRN051 |
Granulomatous Disease, Chronic, X-Linked |
59 |
1587 |
|
HYP815 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome |
59 |
1588 |
|
PNM010 |
Pneumothorax, Primary Spontaneous |
59 |
1589 |
c
|
MST023 |
Mesothelioma, Malignant |
58 |
1590 |
|
IRN002 |
Iron Metabolism Disease |
58 |
1591 |
P
|
END033 |
Endocarditis |
57 |
1592 |
|
PLM033 |
Pulmonary Embolism |
57 |
1593 |
|
PHR003 |
Pharyngitis |
57 |
1594 |
c
|
PSD122 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
57 |
1595 |
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
1596 |
c
|
MYP072 |
Myopathy, Myofibrillar, 1 |
57 |
1597 |
|
MCN007 |
Meconium Aspiration Syndrome |
56 |
1598 |
P
|
FML068 |
Familial Hypocalciuric Hypercalcemia |
55 |
1599 |
|
SLC006 |
Silicosis |
55 |
1600 |
|
PLM032 |
Pulmonary Blastoma |
55 |
1601 |
c
|
VRL005 |
Viral Pneumonia |
55 |
1602 |
|
ACT029 |
Acute Interstitial Pneumonia |
55 |
1603 |
|
TRC062 |
Tricuspid Atresia |
54 |
1604 |
|
ASP004 |
Asphyxia Neonatorum |
54 |
1605 |
c
|
MYP078 |
Myopathy, Myofibrillar, 3 |
54 |
1606 |
|
ALV005 |
Alveolar Soft Part Sarcoma |
54 |
1607 |
|
MTT002 |
Metatropic Dysplasia |
52 |
1608 |
|
MLT134 |
Multiple Pterygium Syndrome, Lethal Type |
51 |
1609 |
|
VSD002 |
Vas Deferens, Congenital Bilateral Aplasia of |
50 |
1610 |
P
|
HYD033 |
Hydrolethalus Syndrome 1 |
50 |
1611 |
c
|
PSD112 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
50 |
1612 |
c
|
SHR063 |
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly |
50 |
1613 |
c
|
MYP079 |
Myopathy, Myofibrillar, 5 |
49 |
1614 |
P
|
LRY029 |
Laryngomalacia |
49 |
1615 |
P
|
MYF003 |
Myofibrillar Myopathy |
48 |
1616 |
|
ADN089 |
Adenosquamous Lung Carcinoma |
48 |
1617 |
|
CHN065 |
Choanal Atresia, Posterior |
48 |
1618 |
c
|
PSD092 |
Pseudohypoaldosteronism, Type Iie |
47 |
1619 |
P
|
PSD003 |
Pseudohypoaldosteronism |
46 |
1620 |
c
|
MYP081 |
Myopathy, Myofibrillar, 6 |
46 |
1621 |
c
|
MSC172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
46 |
1622 |
|
CRP002 |
Croup |
46 |
1623 |
c
|
MYP082 |
Myopathy, Myofibrillar, 2 |
45 |
1624 |
c
|
MYP080 |
Myopathy, Myofibrillar, 4 |
45 |
1625 |
c
|
HYP608 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
45 |
1626 |
|
INT304 |
Interstitial Pneumonitis, Desquamative, Familial |
45 |
1627 |
|
PRT014 |
Protein S Deficiency |
44 |
1628 |
c
|
JBR026 |
Joubert Syndrome 15 |
44 |
1629 |
|
DFF035 |
Diffuse Cutaneous Systemic Sclerosis |
43 |
1630 |
|
PLT026 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
43 |
1631 |
|
SCR015 |
Scarlet Fever |
43 |
1632 |
|
YLL001 |
Yellow Nail Syndrome |
42 |
1633 |
c
|
CLR134 |
Ciliary Dyskinesia, Primary, 3 |
42 |
1634 |
|
CMB017 |
Combined Oxidative Phosphorylation Deficiency 6 |
41 |
1635 |
|
SPN348 |
Spondylometaphyseal Dysplasia, Axial |
41 |
1636 |
P
|
PLM182 |
Pulmonary Hypoplasia, Primary |
41 |
1637 |
|
FRM003 |
Farmer's Lung |
41 |
1638 |
c
|
CLR114 |
Ciliary Dyskinesia, Primary, 30 |
40 |
1639 |
|
ARC008 |
Auriculo-Condylar Syndrome |
40 |
1640 |
|
SNN002 |
Sinonasal Undifferentiated Carcinoma |
39 |
1641 |
|
MXL016 |
Maxillonasal Dysplasia, Binder Type |
38 |
1642 |
c
|
HRM011 |
Hermansky-Pudlak Syndrome 8 |
38 |
1643 |
P
|
SRF005 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
37 |
1644 |
c
|
SRF003 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
37 |
1645 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
36 |
1646 |
|
ANC002 |
Anca-Associated Vasculitis |
36 |
1647 |
c
|
PSD080 |
Pseudohypoaldosteronism Type 1 |
36 |
1648 |
c
|
MYP119 |
Myopathy, Myofibrillar, 7 |
35 |
1649 |
|
PKL002 |
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis |
35 |
1650 |
c
|
CLR042 |
Ciliary Dyskinesia, Primary, 6 |
35 |
1651 |
|
CMB044 |
Combined Oxidative Phosphorylation Deficiency 14 |
35 |
1652 |
c
|
CLR056 |
Ciliary Dyskinesia, Primary, 10 |
34 |
1653 |
|
SDD002 |
Sudden Infant Death with Dysgenesis of the Testes Syndrome |
34 |
1654 |
|
PTL001 |
Patulous Eustachian Tube |
34 |
1655 |
c
|
MYP118 |
Myopathy, Myofibrillar, 8 |
34 |
1656 |
c
|
SBC003 |
Subacute Bacterial Endocarditis |
33 |
1657 |
c
|
PSD093 |
Pseudohypoaldosteronism, Type Iid |
33 |
1658 |
|
TRC115 |
Tracheopathia Osteoplastica |
33 |
1659 |
|
CMB078 |
Combined Oxidative Phosphorylation Deficiency 32 |
33 |
1660 |
|
SZR027 |
Seizures, Cortical Blindness, and Microcephaly Syndrome |
32 |
1661 |
|
SPR031 |
Sprengel Deformity |
32 |
1662 |
c
|
PSD090 |
Pseudohypoaldosteronism, Type Iia |
32 |
1663 |
|
LNG117 |
Lung Pleomorphic Carcinoma |
32 |
1664 |
|
ASB002 |
Asbestos-Related Lung Carcinoma |
32 |
1665 |
|
RPD006 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
32 |
1666 |
|
MSP001 |
Masp2 Deficiency |
32 |
1667 |
c
|
HYD040 |
Hydrolethalus Syndrome 2 |
32 |
1668 |
|
LYM122 |
Lymphangiectasia, Pulmonary, Congenital |
31 |
1669 |
c
|
CLR069 |
Ciliary Dyskinesia, Primary, 8 |
31 |
1670 |
|
MCN023 |
Mucinous Lung Adenocarcinoma |
31 |
1671 |
c
|
LNG001 |
Lung Clear Cell Carcinoma |
31 |
1672 |
|
BRN137 |
Bronchial Neuroendocrine Tumor |
31 |
1673 |
|
RSP005 |
Respiratory System Cancer |
30 |
1674 |
c
|
LRS002 |
Larsen-Like Syndrome |
30 |
1675 |
c
|
CLR067 |
Ciliary Dyskinesia, Primary, 4 |
29 |
1676 |
|
RHM036 |
Rheumatoid Arthritis Interstitial Lung Disease |
29 |
1677 |
c
|
CLR059 |
Ciliary Dyskinesia, Primary, 13 |
29 |
1678 |
|
GLT004 |
Glottis Squamous Cell Carcinoma |
29 |
1679 |
|
LNG037 |
Lung Sarcoma |
28 |
1680 |
c
|
CLR123 |
Ciliary Dyskinesia, Primary, 37 |
28 |
1681 |
c
|
CLR136 |
Ciliary Dyskinesia, Primary, 9 |
28 |
1682 |
|
PLM186 |
Pulmonary Arterial Hypertension Associated with Portal Hypertension |
28 |
1683 |
|
NSL005 |
Nasal Cavity Olfactory Neuroblastoma |
27 |
1684 |
c
|
PSD068 |
Pseudohypoaldosteronism, Type Iic |
27 |
1685 |
|
NRD081 |
Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies |
27 |
1686 |
|
LRY005 |
Laryngeal Small Cell Carcinoma |
27 |
1687 |
|
CMB085 |
Combined Oxidative Phosphorylation Deficiency 35 |
27 |
1688 |
c
|
CLR092 |
Ciliary Dyskinesia, Primary, 18 |
27 |
1689 |
|
RSP004 |
Respiratory System Benign Neoplasm |
27 |
1690 |
c
|
PSD094 |
Pseudohypoaldosteronism, Type Iib |
26 |
1691 |
|
NSL028 |
Nasal Cavity Benign Neoplasm |
26 |
1692 |
c
|
HRM020 |
Hermansky-Pudlak Syndrome 10 |
26 |
1693 |
|
IMM232 |
Immunodeficiency 75 |
26 |
1694 |
|
HGH021 |
Hughes-Stovin Syndrome |
25 |
1695 |
c
|
CLR107 |
Ciliary Dyskinesia, Primary, 24 |
25 |
1696 |
|
TCL026 |
T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant |
24 |
1697 |
|
CMB079 |
Combined Oxidative Phosphorylation Deficiency 29 |
24 |
1698 |
|
MLT013 |
Malt Worker's Lung |
24 |
1699 |
|
MPL002 |
Maple Bark Strippers' Lung |
24 |
1700 |
c
|
CLR139 |
Ciliary Dyskinesia, Primary, 39 |
24 |
1701 |
|
MXL004 |
Maxillary Sinus Squamous Cell Carcinoma |
23 |
1702 |
|
HLR002 |
Hilar Lung Carcinoma |
23 |
1703 |
c
|
IDP012 |
Idiopathic Acute Eosinophilic Pneumonia |
23 |
1704 |
|
PRP011 |
Puerperal Pulmonary Embolism |
23 |
1705 |
c
|
VNT026 |
Ventricular Septal Defect 2 |
23 |
1706 |
|
MTC215 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
23 |
1707 |
c
|
MYF011 |
Myofibrillar Myopathy 10 |
23 |
1708 |
c
|
TRN053 |
Transient Pseudohypoaldosteronism |
22 |
1709 |
c
|
MYF012 |
Myofibrillar Myopathy 11 |
22 |
1710 |
c
|
CLR145 |
Ciliary Dyskinesia, Primary, 45 |
22 |
1711 |
c
|
CLR124 |
Ciliary Dyskinesia, Primary, 34 |
22 |
1712 |
|
LPD042 |
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency |
22 |
1713 |
|
PLM153 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
22 |
1714 |
|
ABN012 |
Abnormal Origin of Right or Left Pulmonary Artery from the Aorta |
22 |
1715 |
|
MSC201 |
Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome |
21 |
1716 |
|
TRC018 |
Tracheal Lymphoma |
21 |
1717 |
|
PLM116 |
Pulmonary Artery Hypoplasia |
21 |
1718 |
|
LNG007 |
Lung Mixed Small Cell and Squamous Cell Carcinoma |
21 |
1719 |
|
HMN012 |
Hemangioma of Lung |
21 |
1720 |
|
IMM251 |
Immunodeficiency 85 and Autoimmunity |
21 |
1721 |
|
MTC224 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
20 |
1722 |
|
LNG012 |
Lung Occult Squamous Cell Carcinoma |
20 |
1723 |
|
MTC217 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
20 |
1724 |
|
HLR001 |
Hilar Lung Neoplasm |
20 |
1725 |
|
THR109 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
20 |
1726 |
|
TBS010 |
T-B- Severe Combined Immunodeficiency |
20 |
1727 |
|
DFF020 |
Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia |
19 |
1728 |
c
|
CLR141 |
Ciliary Dyskinesia, Primary, 41 |
19 |
1729 |
|
MTC228 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
18 |
1730 |
|
VTR017 |
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency |
18 |
1731 |
|
SPR023 |
Supraglottis Squamous Cell Carcinoma |
17 |
1732 |
|
WLL022 |
Well-Differentiated Fetal Adenocarcinoma of the Lung |
17 |
1733 |
|
RCN002 |
Ricin Poisoning |
17 |
1734 |
|
LNG022 |
Lung Acinar Adenocarcinoma |
16 |
1735 |
|
IMM129 |
Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis |
16 |
1736 |
|
PRS111 |
Persistent Fifth Aortic Arch |
15 |
1737 |
|
LNG014 |
Lung Superior Sulcus Carcinoma |
15 |
1738 |
|
LRY030 |
Larynx Atresia |
15 |
1739 |
|
CHR727 |
Chronic Neurovisceral Acid Sphingomyelinase Deficiency |
14 |
1740 |
c
|
PSD124 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
12 |
1741 |
|
CNG392 |
Congenital Pulmonary Veins Atresia or Stenosis |
11 |
1742 |
c
|
PSD123 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
11 |
1743 |
|
ETH003 |
Ethmoid Sinus Squamous Cell Carcinoma |
10 |
1744 |
|
16Q002 |
16q24.1 Microdeletion Syndrome |
10 |
1745 |
|
SBG004 |
Subglottis Squamous Cell Carcinoma |
7 |
1746 |
c
|
BNG019 |
Benign Intermediate Mesothelioma |
6 |
1747 |
|
ENC035 |
Encircling Double Aortic Arch |
6 |
1748 |
|
SCN070 |
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis |
4 |
1749 |
|
SCN071 |
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease |
4 |
1750 |
|
LNG090 |
Lung Combined Type Small Cell Adenocarcinoma |
4 |
1751 |
c
|
CLR027 |
Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules |
3 |
1752 |
|
LGN002 |
Legionellosis |
49 |
1753 |
|
RSP021 |
Respiratory Allergy |
44 |
1754 |
c
|
LNG003 |
Lung Carcinoma in Situ |
40 |
1755 |
|
LNG023 |
Lung Leiomyosarcoma |
23 |
1756 |
c
|
PLM164 |
Pulmonary Hypertension, Primary, 1 |
76 |
1757 |
|
FBR011 |
Fibrodysplasia Ossificans Progressiva |
69 |
1758 |
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
1759 |
P
|
ADL010 |
Adult Respiratory Distress Syndrome |
68 |
1760 |
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
66 |
1761 |
|
BLS001 |
Blau Syndrome |
64 |
1762 |
|
TKY002 |
Takayasu Arteritis |
64 |
1763 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
63 |
1764 |
P
|
FTL069 |
Fetal Akinesia Deformation Sequence 1 |
62 |
1765 |
|
TTL012 |
Total Anomalous Pulmonary Venous Return 1 |
60 |
1766 |
|
GST045 |
Gastroenteritis |
59 |
1767 |
|
LYM004 |
Lymphoid Interstitial Pneumonia |
58 |
1768 |
|
LNG108 |
Langerhans Cell Histiocytosis |
57 |
1769 |
|
EXT034 |
Extrinsic Allergic Alveolitis |
57 |
1770 |
|
HYP458 |
Hyper Ige Syndrome |
56 |
1771 |
c
|
MTC054 |
Mitochondrial Dna Depletion Syndrome 7 |
56 |
1772 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
56 |
1773 |
P
|
LRY044 |
Larynx Cancer |
55 |
1774 |
|
ALP077 |
Alpha-Methylacetoacetic Aciduria |
55 |
1775 |
P
|
ALL008 |
Allergic Bronchopulmonary Aspergillosis |
55 |
1776 |
|
ALV002 |
Alveolar Echinococcosis |
54 |
1777 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
54 |
1778 |
P
|
PLM085 |
Pulmonary Hemosiderosis |
52 |
1779 |
c
|
MTC063 |
Mitochondrial Dna Depletion Syndrome 3 |
52 |
1780 |
|
ACT055 |
Actinomycosis |
51 |
1781 |
c
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
51 |
1782 |
|
LRY018 |
Laryngeal Squamous Cell Carcinoma |
51 |
1783 |
c
|
MTC060 |
Mitochondrial Dna Depletion Syndrome 9 |
49 |
1784 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
49 |
1785 |
P
|
FBR025 |
Fibrochondrogenesis |
49 |
1786 |
P
|
PLM025 |
Pulmonary Venoocclusive Disease |
48 |
1787 |
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
1788 |
c
|
MTC059 |
Mitochondrial Dna Depletion Syndrome 5 |
47 |
1789 |
P
|
HYP776 |
Hyperparathyroidism, Neonatal Severe |
46 |
1790 |
c
|
FBR029 |
Fibrochondrogenesis 1 |
46 |
1791 |
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
44 |
1792 |
|
NSL029 |
Nasal Type Extranodal Nk/t-Cell Lymphoma |
44 |
1793 |
c
|
RST025 |
Restrictive Dermopathy 1 |
42 |
1794 |
|
CHR466 |
Chronic Thromboembolic Pulmonary Hypertension |
42 |
1795 |
c
|
MTC065 |
Mitochondrial Dna Depletion Syndrome 8a |
41 |
1796 |
|
CMB054 |
Combined Oxidative Phosphorylation Deficiency 23 |
41 |
1797 |
c
|
FBR030 |
Fibrochondrogenesis 2 |
39 |
1798 |
P
|
RHM037 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
39 |
1799 |
|
CMB041 |
Combined Oxidative Phosphorylation Deficiency 13 |
38 |
1800 |
c
|
SRF004 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
37 |
1801 |
|
CMB015 |
Combined Oxidative Phosphorylation Deficiency 4 |
36 |
1802 |
P
|
RST003 |
Restrictive Dermopathy |
36 |
1803 |
c
|
FTL072 |
Fetal Akinesia Deformation Sequence 4 |
36 |
1804 |
|
PLM039 |
Pulmonary Neuroendocrine Tumor |
36 |
1805 |
|
PLM052 |
Pulmonary Arteriovenous Malformation |
36 |
1806 |
|
ENT010 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
35 |
1807 |
|
PLM038 |
Pulmonary Large Cell Neuroendocrine Carcinoma |
35 |
1808 |
|
LRY026 |
Laryngeal Cleft |
34 |
1809 |
|
LNG002 |
Lung Combined Large Cell Neuroendocrine Carcinoma |
34 |
1810 |
|
TCL021 |
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations |
33 |
1811 |
|
EPD118 |
Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome |
32 |
1812 |
|
LRY013 |
Laryngeal Neuroendocrine Tumor |
32 |
1813 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
32 |
1814 |
|
DRF001 |
Dirofilariasis |
32 |
1815 |
|
LNG013 |
Lung Lymphoma |
32 |
1816 |
|
STC019 |
Stocco Dos Santos Type X-Linked Intellectual Disability |
31 |
1817 |
|
JBR032 |
Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy |
30 |
1818 |
|
PRN002 |
Paranasal Sinus Lymphoma |
28 |
1819 |
|
IMM134 |
Immunodeficiency, Common Variable, 13 |
27 |
1820 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
26 |
1821 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
26 |
1822 |
c
|
HYP831 |
Hyperparathyroidism, Transient Neonatal |
26 |
1823 |
|
SPN428 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant |
26 |
1824 |
c
|
MTC234 |
Mitochondrial Dna Depletion Syndrome 16b |
24 |
1825 |
c
|
DPH016 |
Diaphragmatic Hernia 3 |
24 |
1826 |
c
|
MTC236 |
Mitochondrial Dna Depletion Syndrome 20 |
23 |
1827 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
23 |
1828 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
22 |
1829 |
c
|
MTC213 |
Mitochondrial Dna Depletion Syndrome 19 |
21 |
1830 |
c
|
RST026 |
Restrictive Dermopathy 2 |
21 |
1831 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
20 |
1832 |
|
PRM133 |
Primary Pulmonary Lymphoma |
19 |
1833 |
|
HRM027 |
Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency |
19 |
1834 |
c
|
DPH025 |
Diaphragmatic Hernia 2 |
18 |
1835 |
c
|
ALL027 |
Allergic Bronchopulmonary Aspergillosis, Familial |
17 |
1836 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
15 |
1837 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
13 |
1838 |
P
|
HRN027 |
Hernia, Anterior Diaphragmatic |
9 |
1839 |
c
|
MLT169 |
Multiple Mitochondrial Dna Deletion Syndrome |
8 |
1840 |
|
RRR009 |
Rare Respiratory Tumor |
6 |
1841 |
|
TRC090 |
Trachea Mucoepidermoid Carcinoma |
4 |
1842 |
|
PRC002 |
Paracoccidioidomycosis |
54 |
1843 |
|
PHH001 |
Phaeohyphomycosis |
40 |
1844 |
|
ALP103 |
Alpha-1-Antitrypsin Deficiency |
70 |
1845 |
P
|
GCH001 |
Gaucher's Disease |
68 |
1846 |
P
|
NRP063 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
66 |
1847 |
c
|
ORF037 |
Orofaciodigital Syndrome I |
64 |
1848 |
|
LBR038 |
Leber Hereditary Optic Neuropathy, Modifier of |
64 |
1849 |
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
64 |
1850 |
|
CHR001 |
Churg-Strauss Syndrome |
61 |
1851 |
|
FCT006 |
Factor V Deficiency |
60 |
1852 |
c
|
ORF040 |
Orofaciodigital Syndrome Viii |
59 |
1853 |
c
|
TLN006 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
58 |
1854 |
c
|
ORF034 |
Orofaciodigital Syndrome Vi |
56 |
1855 |
P
|
RST002 |
Restrictive Cardiomyopathy |
53 |
1856 |
c
|
GCH016 |
Gaucher Disease, Type Ii |
52 |
1857 |
c
|
ORF035 |
Orofaciodigital Syndrome Iv |
49 |
1858 |
P
|
ORF001 |
Orofaciodigital Syndrome |
49 |
1859 |
c
|
ORF033 |
Orofaciodigital Syndrome V |
47 |
1860 |
c
|
CRD098 |
Cardiomyopathy, Familial Restrictive, 3 |
47 |
1861 |
|
CRY003 |
Cryptosporidiosis |
47 |
1862 |
c
|
GCH013 |
Gaucher Disease, Type Iiic |
46 |
1863 |
c
|
EPS028 |
Episodic Pain Syndrome, Familial, 3 |
45 |
1864 |
c
|
HYP753 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
43 |
1865 |
c
|
MSC177 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
43 |
1866 |
P
|
RCR004 |
Recurrent Respiratory Papillomatosis |
42 |
1867 |
c
|
CRD176 |
Cardiomyopathy, Familial Restrictive, 1 |
42 |
1868 |
c
|
ORF038 |
Orofaciodigital Syndrome Iii |
40 |
1869 |
c
|
TLN011 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
40 |
1870 |
P
|
FML340 |
Familial Episodic Pain Syndrome |
39 |
1871 |
c
|
EPS027 |
Episodic Pain Syndrome, Familial, 2 |
38 |
1872 |
c
|
EPS039 |
Episodic Pain Syndrome, Familial, 1 |
38 |
1873 |
c
|
ORF043 |
Orofaciodigital Syndrome Ix |
38 |
1874 |
c
|
MSC050 |
Muscular Dystrophy, Congenital, 1b |
37 |
1875 |
|
IMM257 |
Immunodeficiency 7 |
36 |
1876 |
|
ATM081 |
Autoimmune Disease, Multisystem, with Facial Dysmorphism |
35 |
1877 |
|
SCC011 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
35 |
1878 |
P
|
ACR072 |
Acrorenal Syndrome |
34 |
1879 |
c
|
ORF036 |
Orofaciodigital Syndrome Xiv |
31 |
1880 |
|
IMM239 |
Immunodeficiency 79 |
29 |
1881 |
c
|
ORF041 |
Orofaciodigital Syndrome X |
28 |
1882 |
c
|
TLN008 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
27 |
1883 |
c
|
ORF042 |
Orofaciodigital Syndrome Xi |
26 |
1884 |
c
|
ORF046 |
Orofaciodigital Syndrome Xvi |
25 |
1885 |
c
|
ORF051 |
Orofaciodigital Syndrome Xvii |
25 |
1886 |
c
|
ORF052 |
Orofaciodigital Syndrome Xviii |
25 |
1887 |
c
|
ORF045 |
Orofaciodigital Syndrome Xv |
24 |
1888 |
|
CLF051 |
Cleft Larynx, Posterior |
23 |
1889 |
c
|
ORF039 |
Orofaciodigital Syndrome Vii |
21 |
1890 |
c
|
CRD254 |
Cardiomyopathy, Familial Restrictive, 6 |
21 |
1891 |
c
|
CRD057 |
Cardiomyopathy, Familial Restrictive, 2 |
20 |
1892 |
c
|
TLN010 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
20 |
1893 |
c
|
TLN009 |
Telangiectasia, Hereditary Hemorrhagic, Type 3 |
17 |
1894 |
c
|
ACR115 |
Acrorenal Syndrome, Autosomal Recessive |
16 |
1895 |
|
CNG241 |
Congenital Laryngeal Palsy |
14 |
1896 |
c
|
ORF054 |
Orofaciodigital Syndrome Xix |
13 |
1897 |
c
|
ORF006 |
Orofaciodigital Syndrome 13 |
13 |
1898 |
c
|
ORF005 |
Orofaciodigital Syndrome 12 |
13 |
1899 |
c
|
PSD023 |
Pseudo-Gaucher Disease |
9 |
1900 |
|
PLM023 |
Pulmonary Artery Choriocarcinoma |
7 |
1901 |
c
|
INT457 |
Interstitial Lung Disease 2 |
76 |
1902 |
P
|
NJM001 |
Nijmegen Breakage Syndrome |
73 |
1903 |
P
|
SRC025 |
Sarcoidosis 1 |
71 |
1904 |
c
|
MCR256 |
Microphthalmia, Syndromic 9 |
68 |
1905 |
c
|
MSC036 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
66 |
1906 |
P
|
OST135 |
Osteogenesis Imperfecta, Type I |
64 |
1907 |
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
1908 |
c
|
MCR241 |
Microphthalmia, Syndromic 3 |
59 |
1909 |
c
|
OST122 |
Osteogenesis Imperfecta, Type Iii |
59 |
1910 |
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
58 |
1911 |
c
|
GCH017 |
Gaucher Disease, Type Iii |
58 |
1912 |
c
|
OST080 |
Osteogenesis Imperfecta, Type Ii |
58 |
1913 |
|
MXD005 |
Mixed Connective Tissue Disease |
57 |
1914 |
P
|
LRS001 |
Larsen Syndrome |
56 |
1915 |
c
|
OST132 |
Osteogenesis Imperfecta, Type Vi |
54 |
1916 |
c
|
OST121 |
Osteogenesis Imperfecta, Type Iv |
54 |
1917 |
c
|
MSC104 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
52 |
1918 |
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
52 |
1919 |
c
|
MSC093 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
52 |
1920 |
c
|
MCR263 |
Microphthalmia, Syndromic 1 |
51 |
1921 |
c
|
MSC048 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
51 |
1922 |
c
|
MCR251 |
Microphthalmia, Syndromic 6 |
50 |
1923 |
c
|
MSC035 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
50 |
1924 |
c
|
SRC023 |
Sarcoidosis 2 |
50 |
1925 |
c
|
MSC108 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
50 |
1926 |
c
|
MSC042 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
50 |
1927 |
c
|
HYP752 |
Hypocalciuric Hypercalcemia, Familial, Type I |
48 |
1928 |
c
|
MSC103 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
48 |
1929 |
c
|
OST119 |
Osteogenesis Imperfecta, Type Vii |
48 |
1930 |
|
TXC011 |
Toxocariasis |
48 |
1931 |
c
|
MCR245 |
Microphthalmia, Syndromic 8 |
46 |
1932 |
c
|
NJM002 |
Nijmegen Breakage Syndrome-Like Disorder |
46 |
1933 |
c
|
MSC100 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
46 |
1934 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
45 |
1935 |
c
|
OST133 |
Osteogenesis Imperfecta, Type Xi |
45 |
1936 |
c
|
OST118 |
Osteogenesis Imperfecta, Type Viii |
44 |
1937 |
c
|
MCR252 |
Microphthalmia, Syndromic 5 |
43 |
1938 |
c
|
MSC111 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
42 |
1939 |
c
|
CHR630 |
Chorea, Benign Hereditary |
42 |
1940 |
c
|
OST124 |
Osteogenesis Imperfecta, Type V |
42 |
1941 |
c
|
OST110 |
Osteogenesis Imperfecta, Type Xv |
40 |
1942 |
c
|
MCR312 |
Microphthalmia, Syndromic 10 |
40 |
1943 |
c
|
PLM167 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
40 |
1944 |
|
EPD117 |
Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous |
39 |
1945 |
c
|
OST130 |
Osteogenesis Imperfecta, Type Ix |
39 |
1946 |
c
|
OST128 |
Osteogenesis Imperfecta, Type Xii |
37 |
1947 |
c
|
MSC046 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 |
37 |
1948 |
c
|
MSC045 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 3 |
37 |
1949 |
c
|
OST178 |
Osteogenesis Imperfecta, Type Xxi |
37 |
1950 |
c
|
OST109 |
Osteogenesis Imperfecta, Type Xiv |
37 |
1951 |
|
ATM086 |
Autoimmune Interstitial Lung, Joint, and Kidney Disease |
37 |
1952 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
36 |
1953 |
c
|
OST170 |
Osteogenesis Imperfecta, Type Xix |
36 |
1954 |
c
|
OST127 |
Osteogenesis Imperfecta, Type X |
36 |
1955 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
35 |
1956 |
c
|
OST123 |
Osteogenesis Imperfecta, Type Xiii |
34 |
1957 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
34 |
1958 |
P
|
SYN165 |
Syndromic Microphthalmia |
34 |
1959 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
34 |
1960 |
c
|
MSC182 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 |
33 |
1961 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
33 |
1962 |
c
|
CNG553 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
33 |
1963 |
c
|
MSC044 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 |
33 |
1964 |
c
|
OST169 |
Osteogenesis Imperfecta, Type Xviii |
33 |
1965 |
c
|
MCR228 |
Microphthalmia, Syndromic 13 |
33 |
1966 |
c
|
MSC127 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 |
33 |
1967 |
c
|
CNG557 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
32 |
1968 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
32 |
1969 |
c
|
CNG546 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type a |
31 |
1970 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
30 |
1971 |
c
|
MSC097 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 |
30 |
1972 |
c
|
MCR392 |
Microphthalmia, Syndromic 16 |
30 |
1973 |
c
|
MSC099 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 |
30 |
1974 |
c
|
OST139 |
Osteogenesis Imperfecta, Type Xvi |
30 |
1975 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
29 |
1976 |
c
|
OST138 |
Osteogenesis Imperfecta, Type Xvii |
29 |
1977 |
c
|
CNG547 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
29 |
1978 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
29 |
1979 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
29 |
1980 |
c
|
CNG550 |
Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
29 |
1981 |
c
|
CNG551 |
Congenital Muscular Dystrophy-Dystroglycanopathy A7 |
27 |
1982 |
c
|
CNG558 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
27 |
1983 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
25 |
1984 |
c
|
MSC038 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 |
25 |
1985 |
c
|
MSC188 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 8 |
24 |
1986 |
c
|
CNG554 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
24 |
1987 |
c
|
MCR217 |
Microphthalmia, Syndromic 11 |
23 |
1988 |
c
|
CNG552 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
22 |
1989 |
c
|
CNG559 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
22 |
1990 |
c
|
OST180 |
Osteogenesis Imperfecta, Type Xxii |
21 |
1991 |
c
|
MSC200 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 |
20 |
1992 |
c
|
SRC024 |
Sarcoidosis 3 |
18 |
1993 |
c
|
CNG556 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
18 |
1994 |
P
|
CHR636 |
Chorea, Benign Familial |
12 |
1995 |
c
|
MSC203 |
Muscular Dystrophy-Dystroglycanopathy Type B |
10 |
1996 |
c
|
CNG555 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 |
9 |
1997 |
c
|
CNG548 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 |
9 |
1998 |
c
|
CNG549 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 |
9 |
1999 |
P
|
MYC084 |
Mycobacterium Tuberculosis 1 |
68 |
2000 |
|
PRT037 |
Pertussis |
64 |
2001 |
c
|
MYC055 |
Mycobacterium Tuberculosis 3 |
14 |
2002 |
c
|
MYC054 |
Mycobacterium Tuberculosis 2 |
13 |
2003 |
P
|
CHR012 |
Chronic Granulomatous Disease |
67 |
2004 |
|
CYS008 |
Cystic Echinococcosis |
53 |
2005 |
c
|
STN011 |
Sting-Associated Vasculopathy with Onset in Infancy |
52 |
2006 |
c
|
BRW009 |
Brown-Vialetto-Van Laere Syndrome 1 |
47 |
2007 |
c
|
BRW008 |
Brown-Vialetto-Van Laere Syndrome 2 |
46 |
2008 |
|
MYP159 |
Myopathy, Proximal, with Ophthalmoplegia |
46 |
2009 |
P
|
STN012 |
Sting-Associated Vasculopathy, Infantile-Onset |
39 |
2010 |
P
|
BRW001 |
Brown-Vialetto-Van Laere Syndrome |
32 |
2011 |
c
|
LTH042 |
Lethal Congenital Contracture Syndrome 10 |
25 |
2012 |
|
BRT002 |
Birt-Hogg-Dube Syndrome |
64 |
2013 |
|
IMM177 |
Immunodeficiency 54 |
44 |
2014 |
|
ELL001 |
Ellis-Van Creveld Syndrome |
65 |