Respiratory Diseases Category (1907 diseases)


Including: Respiratory, Lung, Pulmonary, Breathing
See other categories (disease lists)

# Family MCID Name MIFTS
1 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 52
2 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 42
3 c TTR029 Tetraamelia Syndrome 2 24
4 PLM041 Pulmonary Valve Stenosis 50
5 c PLM022 Pulmonary Valve Insufficiency 45
6 UNL013 Unilateral Absence of a Pulmonary Artery 20
7 PLM052 Pulmonary Arteriovenous Malformation 43
8 RSP007 Respiratory Distress Syndrome, Infant 41
9 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 25
10 SRF006 Surfactant Dysfunction 33
11 PLM061 Pulmonary Edema of Mountaineers 25
12 PLM070 Pulmonic Stenosis 49
13 CHP002 Chops Syndrome 47
14 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 50
15 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 38
16 PRG008 Paragonimiasis 37
17 PRP101 Peripheral Pulmonary Stenosis 24
18 PLM067 Pulmonary Valves Agenesis 18
19 ABS016 Absence of the Pulmonary Artery 18
20 INH001 Inhalation Anthrax 42
21 PLM124 Pulmonary Hypertension, Neonatal 21
22 P MTC069 Mitochondrial Disorders 57
23 RSP002 Respiratory Syncytial Virus Infectious Disease 51
24 PLM068 Pulmonary Vein Stenosis 39
25 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 34
26 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 32
27 P PLM069 Pulmonary Venous Return Anomaly 29
28 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 25
29 c RRM002 Rrm2b-Related Mitochondrial Disease 15
30 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 12
31 c ISC017 Isca2-Related Mitochondrial Disorder 9
32 P PTN014 Patent Ductus Arteriosus 1 59
33 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
34 P MTC133 Mitochondrial Myopathy 51
35 c PNT036 Pontocerebellar Hypoplasia, Type 6 46
36 c PNT018 Pontocerebellar Hypoplasia, Type 1b 45
37 P PNT019 Pontocerebellar Hypoplasia 45
38 c PNT057 Pontocerebellar Hypoplasia, Type 1e 44
39 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
40 c MTC116 Mitochondrial Myopathy, Infantile, Transient 43
41 c PNT044 Pontocerebellar Hypoplasia, Type 2a 42
42 c PNT037 Pontocerebellar Hypoplasia, Type 3 42
43 c PNT045 Pontocerebellar Hypoplasia, Type 1a 41
44 c PNT043 Pontocerebellar Hypoplasia, Type 4 41
45 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
46 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
47 CMB014 Combined Oxidative Phosphorylation Deficiency 3 37
48 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
49 WTS001 Watson Syndrome 30
50 c PNT050 Pontocerebellar Hypoplasia, Type 11 29
51 c PNT046 Pontocerebellar Hypoplasia, Type 5 29
52 TMR016 Tumor Suppressor Gene on Chromosome 11 28
53 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
54 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
55 PGD001 Pagod Syndrome 26
56 c PNT053 Pontocerebellar Hypoplasia, Type 13 26
57 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
58 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
59 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
60 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 17
61 c PNT055 Pontocerebellar Hypoplasia, Type 14 16
62 c PNT058 Pontocerebellar Hypoplasia, Type 1f 14
63 c PNT056 Pontocerebellar Hypoplasia, Type 15 14
64 RHM002 Rheumatic Pulmonary Valve Disease 11
65 ENL012 Enolase Alpha, Lung-Specific 9
66 P TTR001 Tetralogy of Fallot 69
67 PLM058 Pulmonary Atresia with Intact Ventricular Septum 27
68 MNV001 Manouvrier Syndrome 8
69 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
70 P NTR004 Neutropenia 62
71 c SVR003 Severe Congenital Neutropenia 59
72 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
73 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 44
74 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 38
75 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 38
76 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
77 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
78 P OCL076 Oculopharyngodistal Myopathy 1 32
79 PLM004 Pulmonary Artery Leiomyosarcoma 30
80 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
81 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
82 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
83 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
84 PLM003 Pulmonary Vein Leiomyosarcoma 24
85 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
86 c NTR045 Neutropenia, Chronic Familial 21
87 c SVR107 Severe Congenital Neutropenia 3 20
88 c OCL080 Oculopharyngodistal Myopathy 2 20
89 c SVR103 Severe Congenital Neutropenia 1 20
90 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
91 c SVR106 Severe Congenital Neutropenia 5 14
92 c ELN001 Elane-Related Neutropenia 14
93 c ACQ053 Acquired Neutropenia 12
94 c SVR109 Severe Congenital Neutropenia 8 11
95 c SVR105 Severe Congenital Neutropenia 2 10
96 c SVR108 Severe Congenital Neutropenia 6 9
97 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 8
98 c SVR104 Severe Congenital Neutropenia 7 8
99 P SLP006 Sleep Apnea 69
100 SPR004 Supravalvular Aortic Stenosis 57
101 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 54
102 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 47
103 P PLM040 Pulmonary Valve Disease 40
104 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40
105 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 37
106 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 26
107 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
108 PLM008 Pulmonary Subvalvular Stenosis 25
109 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
110 P ART034 Aortopulmonary Window 21
111 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
112 CYS044 Cystic Disease of Lung 19
113 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
114 ART027 Aorta-Pulmonary Artery Fistula 16
115 PLM065 Pulmonary Supravalvular Stenosis 16
116 PRQ001 Paraquat Lung 16
117 IDP017 Idiopathic Dilatation of the Pulmonary Artery 13
118 RWL001 Rowley-Rosenberg Syndrome 13
119 c CNG455 Congenital Aortopulmonary Window 11
120 c CNG249 Congenital Pulmonary Venous Return Anomaly 10
121 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 8
122 KSH002 Kashani Strom Utley Syndrome 7
123 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
124 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 5
125 RRL004 Rare Allergic Respiratory Disease 4
126 CCC001 Coccidioidomycosis 57
127 c SPN330 Spondylocostal Dysostosis 5 55
128 ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 53
129 CRN055 Carney Triad 44
130 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 36
131 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
132 BRT055 Breath-Holding Spells 28
133 PNT054 Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal 23
134 IMM221 Immunodeficiency 74, Covid19-Related, X-Linked 22
135 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 18
136 P ATR011 Atrial Fibrillation 66
137 PTN001 Patent Foramen Ovale 61
138 HST011 Histoplasmosis 54
139 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 45
140 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 37
141 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 35
142 c ATR038 Atrial Fibrillation, Familial, 3 29
143 c ATR061 Atrial Fibrillation, Familial, 10 28
144 ANM031 Anomalous Left Coronary Artery from the Pulmonary Artery 26
145 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 25
146 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 24
147 c ATR092 Atrial Fibrillation, Familial, 15 24
148 c ATR037 Atrial Fibrillation, Familial, 7 23
149 MNR004 Mounier-Kuhn Syndrome 23
150 c ATR035 Atrial Fibrillation, Familial, 6 22
151 c ATR059 Atrial Fibrillation, Familial, 11 22
152 c ATR085 Atrial Fibrillation, Familial, 18 21
153 c PTN012 Patent Ductus Arteriosus 3 21
154 c ATR026 Atrial Fibrillation, Familial, 1 21
155 c PTN013 Patent Ductus Arteriosus 2 21
156 c ATR068 Atrial Fibrillation, Familial, 14 21
157 c ATR070 Atrial Fibrillation, Familial, 9 21
158 c ATR039 Atrial Fibrillation, Familial, 4 21
159 c ATR072 Atrial Fibrillation, Familial, 13 20
160 c ATR069 Atrial Fibrillation, Familial, 12 19
161 MTC222 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 18
162 MTC227 Mitochondrial Complex Iv Deficiency, Nuclear Type 20 18
163 SWY003 Swyer-James Syndrome 17
164 PLM062 Pulmonary Hyalinizing Granuloma 15
165 c ATR027 Atrial Fibrillation, Familial, 5 14
166 LBR003 Labrador Lung 13
167 c ATR025 Atrial Fibrillation, Familial, 2 12
168 c ATR028 Atrial Fibrillation, Familial, 8 12
169 c ISC021 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 11
170 SLC011 Silicosiderosis 8
171 ELL004 Ellis Yale Winter Syndrome 7
172 ACD012 Acid Anhydride Respiratory Allergy 3
173 APN008 Apnea, Obstructive Sleep 66
174 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
175 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59
176 P CNT004 Centronuclear Myopathy 56
177 TRC062 Tricuspid Atresia 54
178 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
179 HRT012 Heart Valve Disease 53
180 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
181 c MYP123 Myopathy, Centronuclear, 1 52
182 c MYP131 Myopathy, Centronuclear, 2 51
183 c MTC060 Mitochondrial Dna Depletion Syndrome 9 51
184 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 50
185 c MTC059 Mitochondrial Dna Depletion Syndrome 5 49
186 KRT010 Kartagener Syndrome 49
187 c MTC061 Mitochondrial Dna Depletion Syndrome 1 49
188 c MTC058 Mitochondrial Dna Depletion Syndrome 6 48
189 P MTC010 Mitochondrial Dna Depletion Syndrome 46
190 P SMK004 Smoking As a Quantitative Trait Locus 3 44
191 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
192 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
193 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
194 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41
195 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
196 c CHR096 Chronic Pulmonary Heart Disease 41
197 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
198 P TTR031 Tetraamelia Syndrome 35
199 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 35
200 CMB046 Combined Oxidative Phosphorylation Deficiency 11 34
201 c MYP098 Myopathy, Centronuclear, 4 33
202 c MYP148 Myopathy, Centronuclear, 5 33
203 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
204 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 29
205 P ACT080 Acute Pulmonary Heart Disease 28
206 c TTR028 Tetraamelia Syndrome 1 27
207 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
208 ISL082 Isolated Atp Synthase Deficiency 26
209 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
210 c MTC182 Mitochondrial Dna Depletion Syndrome 16 25
211 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
212 ISL116 Isolated Complex Iii Deficiency 23
213 PLM027 Pulmonary Embolism and Infarction 22
214 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
215 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
216 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
217 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 20
218 CRB155 Carbonic Anhydrase Va Deficiency 19
219 PLM199 Pulmonary Fibrosis Predisposition 19
220 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 19
221 RSP008 Respiratory Rhythmicity in Sleep 18
222 c MTC014 Mitochondrial Dna Deletion Syndromes 16
223 c SVR110 Severe Congenital Neutropenia 4 16
224 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 14
225 PLM053 Pulmonary Artery Agenesis 13
226 DPH028 Diaphragmatic Flutter 12
227 MCS005 Mucus Inspissation of Respiratory Tract 12
228 ASP009 Aspergillus Niger Infection 12
229 BRR006 Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 12
230 GRP001 Graphite Pneumoconiosis 10
231 AGN006 Agnathia-Microstomia-Synotia 10
232 RSP020 Respiratory Underresponsiveness to Hypoxia and Hypercapnia 10
233 CNG131 Congenital Unilateral Pulmonary Hypoplasia 9
234 c SMK001 Smoking As a Quantitative Trait Locus 1 9
235 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 9
236 GNT107 Genetic Interstitial Lung Disease 8
237 HMS004 Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin 8
238 c SMK002 Smoking As a Quantitative Trait Locus 2 7
239 PLM168 Pulmonary Bullae Causing Pneumothorax 7
240 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 6
241 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 6
242 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
243 CLB004 Calabro Syndrome 5
244 RSP024 Respiratory or Mediastinal Malformation 5
245 ABN008 Abnormal Origin of the Pulmonary Artery 4
246 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 4
247 SYN157 Syndromic Respiratory or Mediastinal Malformation 4
248 CNG560 Congenital Pulmonary Artery Branch Stenosis 4
249 ISL137 Isolated Oxidative Phosphorylation Complex Disorder 3
250 NNS063 Non-Syndromic Respiratory or Mediastinal Malformation 3
251 CNG599 Congenital Pulmonary Veins Anomaly 3
252 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
253 CLB015 Colobomata Unilobar Lung Heart Defect 3
254 PLM054 Pulmonary Artery Coming from the Aorta 3
255 RRG022 Rare Genetic Respiratory Disease 3
256 GNT059 Genetic Respiratory Malformation 2
257 GNT072 Genetic Respiratory or Mediastinal Malformation 2
258 PLM066 Pulmonary Surfactant Protein B, Deficiency of 1
259 P LNG032 Lung Cancer 98
260 P SRC025 Sarcoidosis 1 70
261 GRN037 Granulomatosis with Polyangiitis 66
262 CHR001 Churg-Strauss Syndrome 61
263 LNG108 Langerhans Cell Histiocytosis 57
264 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57
265 CMM005 Common Cold 55
266 P PNM006 Pneumoconiosis 55
267 BRN014 Bronchopneumonia 52
268 c GCH017 Gaucher Disease, Type Iii 52
269 KLB003 Klebsiella Pneumonia 49
270 STT002 Status Asthmaticus 49
271 PLR001 Pleural Tuberculosis 49
272 IDP074 Idiopathic Bronchiectasis 48
273 CHN065 Choanal Atresia, Posterior 48
274 MLR002 Miliary Tuberculosis 47
275 SHR044 Short Rib-Polydactyly Syndrome 47
276 PDT035 Pediatric Systemic Lupus Erythematosus 47
277 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46
278 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
279 PRN021 Paranasal Sinus Disease 44
280 LRY017 Laryngeal Disease 44
281 TRC005 Tracheal Stenosis 43
282 P LTH003 Lethal Congenital Contracture Syndrome 40
283 P SCL057 Scoliosis, Isolated 1 40
284 c ACT249 Acute Asthma 40
285 ATR003 Atrophic Rhinitis 40
286 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 40
287 ADN067 Adenoid Hypertrophy 38
288 VSM001 Vasomotor Rhinitis 38
289 P MXL015 Maxillary Sinusitis 37
290 SLF002 Silo Filler's Disease 37
291 INT040 Intrinsic Asthma 36
292 ADN002 Adenoiditis 36
293 c LPR022 Leprosy 2 35
294 c ACT059 Acute Maxillary Sinusitis 35
295 SPR006 Sparganosis 35
296 CGH001 Cough Variant Asthma 35
297 NSP003 Nasopharyngeal Disease 35
298 NSL022 Nasal Cavity Disease 34
299 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 34
300 c CLR059 Ciliary Dyskinesia, Primary, 13 34
301 EXR010 Exercise-Induced Bronchoconstriction 34
302 PCT001 Pectus Carinatum 33
303 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 33
304 OCC016 Occupational Asthma 33
305 SCK001 Sick Building Syndrome 33
306 EPG003 Epiglottitis 33
307 PLR005 Pleuropneumonia 33
308 ETH009 Ethmoid Sinusitis 33
309 PRC054 Perching Syndrome 32
310 LRY004 Laryngotracheitis 32
311 c CHR038 Chronic Maxillary Sinusitis 32
312 ASB003 Asbestos Intoxication 32
313 SPH007 Sphenoid Sinusitis 32
314 HMP003 Hemopneumothorax 32
315 LPD001 Lipid Pneumonia 31
316 TRC035 Tracheal Agenesis 31
317 c ACT072 Acute Laryngitis 30
318 CHL159 Childhood-Onset Asthma 30
319 c CHR047 Chronic Ethmoiditis 30
320 LRY007 Laryngeal Tuberculosis 29
321 P FRN011 Frontal Sinusitis 28
322 c CLR135 Ciliary Dyskinesia, Primary, 7 28
323 BRD005 Borderline Leprosy 28
324 c CLR069 Ciliary Dyskinesia, Primary, 8 28
325 PNT001 Pontiac Fever 28
326 BYS001 Byssinosis 27
327 NRF028 Near-Fatal Asthma 27
328 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 27
329 c ACT035 Acute Frontal Sinusitis 27
330 c BRN075 Bronchiectasis with or Without Elevated Sweat Chloride 2 27
331 c CLR123 Ciliary Dyskinesia, Primary, 37 27
332 TRC038 Tracheobronchomegaly 26
333 ACT018 Acute Laryngopharyngitis 26
334 MDD005 Middle Lobe Syndrome 26
335 BRN055 Bronchogenic Cyst 26
336 c CLR054 Ciliary Dyskinesia, Primary, 12 25
337 END006 Endobronchial Lipoma 25
338 CMB096 Combined Oxidative Phosphorylation Deficiency 40 25
339 TRC016 Tracheal Calcification 25
340 c CHR040 Chronic Frontal Sinusitis 25
341 c BRN143 Bronchiectasis 1 24
342 ANT017 Anthracosilicosis 24
343 c CLR101 Ciliary Dyskinesia, Primary, 25 24
344 SPN014 Spontaneous Tension Pneumothorax 24
345 TBR009 Tuberculous Empyema 24
346 P ACT034 Acute Ethmoiditis 24
347 BRN040 Bronchus Adenoma 23
348 c LTH029 Lethal Congenital Contracture Syndrome 9 23
349 UVL006 Uvulitis 23
350 c BRN077 Bronchiectasis with or Without Elevated Sweat Chloride 3 22
351 ATR024 Atrial Fibrillation and Stroke 22
352 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 21
353 c LTH031 Lethal Congenital Contracture Syndrome 6 21
354 CRT057 Critical Congenital Heart Disease 21
355 INT394 Intermittent Asthma 21
356 LNG116 Long Covid 21
357 PLR025 Pleuroparenchymal Fibroelastosis 21
358 c PNM004 Pneumoconiosis Due to Talc 21
359 CMP003 Compensatory Emphysema 20
360 c CLR124 Ciliary Dyskinesia, Primary, 34 20
361 ALV003 Alveoli Adenoma 20
362 CRT060 Cor Triatriatum Sinister 20
363 MXL005 Maxillary Sinus Inverted Papilloma 19
364 c JVN046 Juvenile Polymyositis 18
365 MTC219 Mitochondrial Complex Iv Deficiency, Nuclear Type 11 18
366 c SRC024 Sarcoidosis 3 17
367 KMM002 Kommerell Diverticulum 17
368 c SCL049 Scoliosis, Isolated 3 17
369 MTC221 Mitochondrial Complex Iv Deficiency, Nuclear Type 14 16
370 CRV066 Cervical Aortic Arch 16
371 ACT130 Actin-Accumulation Myopathy 15
372 c INF136 Influenza, Severe 15
373 PRS111 Persistent Fifth Aortic Arch 14
374 SLT003 Slate Pneumoconiosis 13
375 c SCL058 Scoliosis, Isolated 2 12
376 TBR004 Tuberculous Pneumothorax 12
377 INT109 Intranuclear Rod Myopathy 12
378 c CHR039 Chronic Sphenoidal Sinusitis 11
379 P ACT061 Acute Sphenoidal Sinusitis 11
380 PRS144 Persistent Severe Asthma 10
381 c SCL059 Scoliosis, Isolated 4 10
382 c SCL060 Scoliosis, Isolated 5 10
383 CHT001 Chaotic Atrial Tachycardia 10
384 c PLR018 Pleuropulmonary Blastoma Type 1 9
385 ETH006 Ethmoid Sinus Inverted Papilloma 9
386 c LRY051 Laryngotracheoesophageal Cleft Type 1 9
387 T2H001 T2-High Asthma 9
388 PNM022 Pneumonia Caused by Pseudomonas Aeruginosa Infection 9
389 SGL001 Siegler Brewer Carey Syndrome 8
390 T2L001 T2-Low Asthma 8
391 NSL002 Nasal Vestibule Papilloma 8
392 PRS142 Persistent Mild Asthma 7
393 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
394 PRS143 Persistent Moderate Asthma 6
395 ENV003 Environmental Induced Asthma 6
396 FRN001 Frontal Sinus Schneiderian Papilloma 6
397 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
398 MD5001 Mda5 Deficiency 6
399 c ADL100 Adult-Onset Severe Asthma 6
400 NRL003 Neurilemmoma of the Pleura 4
401 ELZ001 Elizabethkingia Anophelis Infection 4
402 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
403 MXD022 Mixed Mineral Dust Pneumoconiosis 4
404 P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 31
405 CHL146 Chloramine T Respiratory Allergy 13
406 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
407 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 13
408 CHR466 Chronic Thromboembolic Pulmonary Hypertension 47
409 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
410 ECH003 Echinococcosis 52
411 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 36
412 c PLM195 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 19
413 NRD117 Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities 15
414 RMZ001 Remazole Black Respiratory Allergy 4
415 4VN001 4-Vinylcyclohexene Dioxide Respiratory Allergy 4
416 P PRM018 Primary Hypertrophic Osteoarthropathy 56
417 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 47
418 PTT002 Potter's Syndrome 39
419 c SCN005 Secondary Hypertrophic Osteoarthropathy 31
420 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 25
421 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 15
422 DFC004 Deficiency Anemia 74
423 P BRL012 Bare Lymphocyte Syndrome, Type Ii 65
424 IMM240 Immunodeficiency 14a, Autosomal Dominant 52
425 c BRL011 Bare Lymphocyte Syndrome, Type I 48
426 CNG134 Congenitally Corrected Transposition of the Great Arteries 38
427 OPS002 Opsismodysplasia 37
428 P ATL001 Atelosteogenesis 34
429 c ATL012 Atelosteogenesis, Type Iii 31
430 NRD094 Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 23
431 c RJB004 Rajab Interstitial Lung Disease with Brain Calcifications 2 21
432 MCH007 Meacham Winn Culler Syndrome 7
433 c THR092 Thrombophilia Due to Thrombin Defect 74
434 c BSL007 Basal Cell Carcinoma 67
435 ANT009 Antithrombin Iii Deficiency 59
436 P DXT004 Dextro-Looped Transposition of the Great Arteries 58
437 c BSL024 Basal Cell Carcinoma 1 55
438 CRC006 Carcinoid Syndrome 55
439 P ACH011 Achondrogenesis 53
440 P SML001 Small Cell Carcinoma 52
441 P THR015 Thrombophilia 51
442 c ACH042 Achondrogenesis, Type Ib 50
443 c LRG001 Large Cell Carcinoma 48
444 c ACH033 Achondrogenesis, Type Ia 48
445 PLM196 Pulmonary Adenocarcinoma in Situ 35
446 ESP029 Esophageal Atresia/tracheoesophageal Fistula 28
447 c BSL011 Basal Cell Carcinoma, Multiple 26
448 c BSL034 Basal Cell Carcinoma 7 25
449 c THR023 Thrombophilia Due to Thrombomodulin Defect 24
450 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 22
451 FCT013 Factor V Leiden Thrombophilia 20
452 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
453 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
454 c BSL026 Basal Cell Carcinoma 3 15
455 c BSL025 Basal Cell Carcinoma 2 15
456 c BSL028 Basal Cell Carcinoma 5 15
457 GRH002 Graham Boyle Troxell Syndrome 14
458 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
459 c BSL029 Basal Cell Carcinoma 6 13
460 c BSL027 Basal Cell Carcinoma 4 13
461 XLN245 X-Linked Immunodeficiency 74 13
462 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 8
463 c THR126 Thrombophilia Due to Decreased Release of Plat 8
464 c RRH022 Rare Hereditary Thrombophilia 7
465 P ALG028 Alagille Syndrome 1 73
466 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
467 CNT061 Conotruncal Heart Malformations 66
468 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
469 c PRG042 Progressive Familial Heart Block, Type Ia 65
470 P CTS001 Cutis Laxa 64
471 c PRG126 Progressive Familial Heart Block 59
472 MYP136 Myopathy, Centronuclear, X-Linked 58
473 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 56
474 c RGD003 Rigid Spine Muscular Dystrophy 1 56
475 c HRM017 Hermansky-Pudlak Syndrome 2 55
476 c PRG043 Progressive Familial Heart Block, Type Ib 54
477 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
478 c CTS045 Cutis Laxa, Autosomal Dominant 1 52
479 P PNC025 Panic Disorder 52
480 c NML003 Nemaline Myopathy 2 51
481 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
482 P FNC026 Fanconi Renotubular Syndrome 1 49
483 P NML001 Nemaline Myopathy 49
484 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
485 c JBR004 Joubert Syndrome 2 49
486 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
487 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 48
488 c NML004 Nemaline Myopathy 3 47
489 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
490 c CTS041 Cutis Laxa, Autosomal Dominant 3 46
491 c HRM008 Hermansky-Pudlak Syndrome 5 46
492 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46
493 c HRM007 Hermansky-Pudlak Syndrome 4 46
494 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 45
495 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
496 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44
497 OBS037 Obesity-Hypoventilation Syndrome 44
498 CPM001 Cap Myopathy 44
499 MLT028 Multiminicore Disease 44
500 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
501 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
502 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
503 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
504 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 42
505 P HRT035 Heart Block, Congenital 42
506 HYL005 Hyaline Body Myopathy 42
507 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 41
508 c CTS031 Cutis Laxa, Autosomal Dominant 2 41
509 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 41
510 BMR001 Boomerang Dysplasia 40
511 c NML010 Nemaline Myopathy 7 39
512 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
513 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
514 c NML005 Nemaline Myopathy 4 38
515 c JBR042 Joubert Syndrome 23 38
516 c SVR040 Severe Congenital Nemaline Myopathy 37
517 ABD010 Abdominal Wall Defect 37
518 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
519 c NML022 Nemaline Myopathy 10 37
520 c INT274 Intermediate Congenital Nemaline Myopathy 36
521 c ATL011 Atelosteogenesis, Type I 36
522 MTC037 Mitochondrial Phosphate Carrier Deficiency 35
523 c ALG016 Alagille Syndrome 2 34
524 c NML021 Nemaline Myopathy 9 33
525 c FNC034 Fanconi Renotubular Syndrome 2 33
526 CD8002 Cd8 Deficiency, Familial 32
527 c ATP003 Atp6v0a2-Related Cutis Laxa 32
528 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 32
529 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30
530 c NML007 Nemaline Myopathy 6 30
531 c PRG101 Progressive Familial Heart Block, Type Ii 28
532 HYP859 Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 27
533 PRT114 Prothrombin Thrombophilia 26
534 c FNC066 Fanconi Renotubular Syndrome 5 25
535 c ACQ027 Acquired Cutis Laxa 25
536 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
537 c FBL003 Fbln5-Related Cutis Laxa 25
538 c EFM001 Efemp2-Related Cutis Laxa 23
539 c LTB003 Ltbp4-Related Cutis Laxa 23
540 c ADL068 Adult-Onset Nemaline Myopathy 23
541 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
542 LRY027 Laryngeal Papillomatosis 22
543 c FNC049 Fanconi Renotubular Syndrome 3 21
544 IMM200 Immunodeficiency 62 19
545 c PNC122 Panic Disorder 1 19
546 c CNG579 Congenital Nemaline Myopathy 18
547 TMM013 Tmem70 Defect 17
548 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 14
549 c PNC070 Panic Disorder 2 13
550 c PNC068 Panic Disorder 3 12
551 URT041 Urethral Obstruction Sequence 12
552 c FNC067 Fanconi Renotubular Syndrome 4 10
553 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
554 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
555 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 6
556 CNG602 Congenital Anomaly of the Great Arteries 4
557 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
558 RRD032 Rare Disorder Potentially Indicated for Lung Transplant 3
559 P HRT032 Heart Disease 84
560 CYS001 Cystic Fibrosis 77
561 PLM129 Pulmonary Disease, Chronic Obstructive 74
562 P RSP003 Respiratory Failure 73
563 P ASP006 Aspergillosis 71
564 PLM001 Pulmonary Tuberculosis 69
565 P INF038 Influenza 68
566 LYM007 Lymphangioleiomyomatosis 68
567 c GCH015 Gaucher Disease, Type I 67
568 c MCP052 Mucopolysaccharidosis, Type Vi 67
569 ALL003 Allergic Rhinitis 66
570 P PLM036 Pulmonary Fibrosis 65
571 c LCL006 Localized Scleroderma 64
572 c CLR131 Ciliary Dyskinesia, Primary, 1 62
573 AVN001 Avian Influenza 61
574 PNM001 Pneumocystosis 60
575 CVD001 Covid-19 59
576 P BRN022 Bronchiectasis 59
577 P END033 Endocarditis 58
578 P VNT002 Ventricular Septal Defect 58
579 P PLM034 Pulmonary Emphysema 58
580 GRN051 Granulomatous Disease, Chronic, X-Linked 57
581 P RHN004 Rhinitis 56
582 ALV002 Alveolar Echinococcosis 56
583 HNC001 Henoch-Schoenlein Purpura 56
584 NWB001 Newborn Respiratory Distress Syndrome 56
585 BRN012 Bronchiolitis Obliterans 56
586 MLT134 Multiple Pterygium Syndrome, Lethal Type 56
587 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55
588 c MYP072 Myopathy, Myofibrillar, 1 55
589 P FBR025 Fibrochondrogenesis 55
590 GDP001 Goodpasture Syndrome 54
591 PLM010 Pulmonary Edema 54
592 PNM008 Pneumothorax 54
593 MCN007 Meconium Aspiration Syndrome 53
594 P LRY019 Laryngitis 53
595 P BNG032 Benign Mesothelioma 53
596 c JVN010 Juvenile Rheumatoid Arthritis 52
597 PLM012 Pulmonary Sarcoidosis 52
598 P ACT105 Acute Mountain Sickness 52
599 RSP019 Respiratory Distress Syndrome in Premature Infants 52
600 BRN038 Bronchial Disease 51
601 c MYP078 Myopathy, Myofibrillar, 3 51
602 RSP006 Respiratory System Disease 51
603 ANT018 Anthracosis 50
604 P MYF003 Myofibrillar Myopathy 50
605 LNG095 Lung Abscess 50
606 ACT017 Acute Chest Syndrome 50
607 ASP004 Asphyxia Neonatorum 50
608 P ORF001 Orofaciodigital Syndrome 50
609 PLR008 Pleurisy 49
610 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 49
611 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 49
612 LPR001 Lepromatous Leprosy 49
613 ASP007 Aspiration Pneumonia 49
614 c MYP079 Myopathy, Myofibrillar, 5 48
615 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
616 MCC002 Mucocutaneous Leishmaniasis 47
617 c RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 47
618 STR103 Streptococcus Pneumonia 47
619 CHL147 Chlamydia Pneumonia 47
620 c MCR245 Microphthalmia, Syndromic 8 46
621 c CHR048 Chronic Rhinitis 46
622 c FBR029 Fibrochondrogenesis 1 45
623 SWN001 Swine Influenza 45
624 NSP002 Nasopharyngitis 45
625 INF058 Inflammatory Myofibroblastic Tumor 45
626 TBR006 Tuberculoid Leprosy 44
627 LYM051 Lymphomatoid Granulomatosis 44
628 ANC002 Anca-Associated Vasculitis 44
629 c SRC023 Sarcoidosis 2 44
630 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
631 c MYP080 Myopathy, Myofibrillar, 4 43
632 c CHR546 Chronic Mountain Sickness 43
633 DPH021 Diaphragm Disease 43
634 ASP008 Aspiration Pneumonitis 43
635 P SDR002 Siderosis 42
636 MYC013 Mycobacterium Abscessus 42
637 c MYP081 Myopathy, Myofibrillar, 6 42
638 CRP002 Croup 42
639 NNS002 Nonspecific Interstitial Pneumonia 42
640 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 42
641 FRM003 Farmer's Lung 41
642 PNM002 Pneumonic Tularemia 41
643 c CHR711 Chronic Asthma 41
644 BRY001 Berylliosis 40
645 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
646 c MYP082 Myopathy, Myofibrillar, 2 40
647 HTR014 Heterotaxy, Visceral, 1, X-Linked 40
648 c CNG404 Congenital Heart Defects, Multiple Types, 4 39
649 c MCR252 Microphthalmia, Syndromic 5 38
650 CHY005 Chylothorax, Congenital 37
651 LNG030 Lung Adenoma 37
652 CRD245 Cardiac-Urogenital Syndrome 37
653 PST015 Postinflammatory Pulmonary Fibrosis 36
654 BGS001 Bagassosis 36
655 c CHR057 Chronic Laryngitis 36
656 c ORF043 Orofaciodigital Syndrome Ix 35
657 P NSL008 Nasal Cavity Cancer 35
658 HYP041 Hypochondrogenesis 35
659 c LTH008 Lethal Congenital Contracture Syndrome 2 35
660 PLM198 Pulmonary Interstitial Emphysema 34
661 BRT013 Baritosis 34
662 PNB004 Panbronchiolitis, Diffuse 34
663 UPP004 Upper Respiratory Tract Disease 33
664 BRD003 Bird Fancier's Lung 33
665 ANT002 Anti-Basement Membrane Glomerulonephritis 33
666 c MYP119 Myopathy, Myofibrillar, 7 33
667 CYS021 Cystic Adenomatoid Malformation of Lung 33
668 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 33
669 c SBC003 Subacute Bacterial Endocarditis 33
670 NSL003 Nasal Cavity Adenocarcinoma 32
671 c CLR094 Ciliary Dyskinesia, Primary, 28 32
672 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 32
673 PRN029 Parainfluenza Virus Type 3 32
674 c CLR056 Ciliary Dyskinesia, Primary, 10 32
675 CPL004 Caplan's Syndrome 32
676 CHT006 Chitayat Syndrome 32
677 c TRC002 Trachea Carcinoma in Situ 32
678 ANR006 Anaerobic Pneumonia 32
679 NSL028 Nasal Cavity Benign Neoplasm 32
680 HYP193 Hypocomplementemic Urticarial Vasculitis 32
681 CLL038 Collagen Vi-Related Myopathy 32
682 ACT016 Actinobacillosis 31
683 BLN004 Balantidiasis 31
684 NSL004 Nasal Cavity Lymphoma 31
685 LRY002 Laryngostenosis 31
686 c CRN111 Cranioectodermal Dysplasia 4 31
687 LGN005 Ligneous Conjunctivitis 31
688 DFF031 Diffuse Alveolar Hemorrhage 31
689 c MYP118 Myopathy, Myofibrillar, 8 31
690 PLM013 Pulmonary Immaturity 31
691 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 30
692 SBG006 Subglottis Benign Neoplasm 30
693 NSL006 Nasal Cavity Squamous Cell Carcinoma 30
694 c MCR228 Microphthalmia, Syndromic 13 30
695 SNN002 Sinonasal Undifferentiated Carcinoma 29
696 c FTL071 Fetal Akinesia Deformation Sequence 3 29
697 CMB041 Combined Oxidative Phosphorylation Deficiency 13 29
698 BRN137 Bronchial Neuroendocrine Tumor 29
699 LRY026 Laryngeal Cleft 29
700 c CLR091 Ciliary Dyskinesia, Primary, 14 28
701 RGH006 Right Aortic Arch 28
702 c CLR104 Ciliary Dyskinesia, Primary, 15 28
703 c VNT028 Ventricular Septal Defect 1 28
704 TRC110 Tracheobronchial Stenosis, Congenital 28
705 TRC001 Trachea Leiomyoma 27
706 P IDP090 Idiopathic Eosinophilic Pneumonia 27
707 DFF002 Diffuse Pulmonary Fibrosis 27
708 c VRL001 Viral Laryngitis 27
709 P BNG022 Benign Pleural Mesothelioma 27
710 IND004 Indeterminate Leprosy 27
711 WTB001 Wet Beriberi 27
712 c BRN145 Bronchiectasis 3 26
713 LNG036 Lung Leiomyoma 26
714 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
715 PLS031 Plastic Bronchitis 26
716 c FBR030 Fibrochondrogenesis 2 26
717 THR032 Thoracolaryngopelvic Dysplasia 26
718 CHL079 Children's Interstitial Lung Disease 25
719 PLR002 Pleural Lipoma 25
720 c CLR114 Ciliary Dyskinesia, Primary, 30 25
721 END019 Endobronchial Leiomyoma 25
722 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 25
723 GLY094 Glycine Encephalopathy with Normal Serum Glycine 25
724 c CLR140 Ciliary Dyskinesia, Primary, 40 24
725 STR029 Sternal Cleft 24
726 PLM015 Pulmonary Systemic Sclerosis 24
727 ACR020 Acropectorovertebral Dysplasia 24
728 c VNT024 Ventricular Septal Defect 3 24
729 TRC037 Tracheobronchomalacia 24
730 CMB047 Combined Oxidative Phosphorylation Deficiency 18 24
731 c CNG511 Congenital Heart Defects, Multiple Types, 2 24
732 c DPH016 Diaphragmatic Hernia 3 24
733 APN006 Apnea of Prematurity 24
734 c CLR092 Ciliary Dyskinesia, Primary, 18 24
735 LYM001 Lymphohistiocytoid Mesothelioma 24
736 c CLR105 Ciliary Dyskinesia, Primary, 20 23
737 c VNT026 Ventricular Septal Defect 2 23
738 NRD081 Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 23
739 HYP015 Hyperlucent Lung 23
740 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 23
741 IMM229 Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia 23
742 c CNG521 Congenital Heart Defects, Multiple Types, 5 23
743 BRN148 Bronchial Benign Neoplasm 22
744 c MYF011 Myofibrillar Myopathy 10 22
745 c CLR138 Ciliary Dyskinesia, Primary, 38 22
746 c CLR107 Ciliary Dyskinesia, Primary, 24 22
747 MLT013 Malt Worker's Lung 22
748 TXC007 Toxic Pneumonitis 22
749 LRY028 Laryngocele 21
750 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 21
751 MTC215 Mitochondrial Complex Iv Deficiency, Nuclear Type 4 21
752 CMB098 Combined Oxidative Phosphorylation Deficiency 42 20
753 c LCL003 Localized Pulmonary Fibrosis 20
754 MTC220 Mitochondrial Complex Iv Deficiency, Nuclear Type 12 20
755 FRN004 Frontal Sinus Inverted Papilloma 19
756 SPR022 Supraglottis Neoplasm 19
757 MTC224 Mitochondrial Complex Iv Deficiency, Nuclear Type 17 18
758 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 18
759 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
760 c MYF012 Myofibrillar Myopathy 11 18
761 FRN058 Frontal Sinus Benign Neoplasm 18
762 c CLR141 Ciliary Dyskinesia, Primary, 41 18
763 PLM108 Pulmonary Interstitial Glycogenosis 18
764 c DPH025 Diaphragmatic Hernia 2 17
765 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
766 MTC226 Mitochondrial Complex Iv Deficiency, Nuclear Type 19 17
767 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
768 c LPR016 Leprosy 4 16
769 ASP038 Aspirin-Induced Respiratory Disease 16
770 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 16
771 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 15
772 CHR468 Chronic Pneumonitis of Infancy 15
773 SPN155 Spondylospinal Thoracic Dysostosis 15
774 ISL118 Isolated Tracheoesophageal Fistula 15
775 HNR001 Heiner Syndrome 14
776 KLN003 Kaolin Pneumoconiosis 14
777 SPH005 Sphenoid Sinus Inverted Papilloma 14
778 THN013 Thunderstorm Triggered Asthma 13
779 CNG241 Congenital Laryngeal Palsy 13
780 c BNG019 Benign Intermediate Mesothelioma 13
781 SBG002 Subglottic Angioma 12
782 c FRN009 Frontal Sinus Cancer 11
783 THR122 Thoracic Malformation 11
784 c ACQ070 Acquired Laryngomalacia 10
785 c EMP012 Emphysema, Hereditary Pulmonary 10
786 c BRN144 Bronchiectasis 2 10
787 c NSL007 Nasal Cavity Carcinoma in Situ 9
788 MXL007 Maxillary Sinus Cholesteatoma 9
789 LRY008 Larynx Liposarcoma 9
790 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 8
791 TRN052 Transient Hyperammonemia of the Newborn 7
792 c SDR001 Siderosis of Eye 7
793 GLT003 Glottis Verrucous Carcinoma 7
794 MXL003 Maxillary Sinus Schneiderian Papilloma 7
795 SPH008 Sphenoidal Sinus Cancer 7
796 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
797 SPH022 Sphenoidal Sinus Benign Neoplasm 6
798 OCC014 Occupational Allergic Alveolitis 5
799 UNS002 Unspecified Juvenile Idiopathic Arthritis 5
800 c INF192 Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia 5
801 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 5
802 NSL001 Nasal Cavity Inverting Papilloma 5
803 EXP006 Exposure-Related Interstitial Lung Disease 5
804 HSL001 House Allergic Alveolitis 4
805 MRP005 Meropenem Allergy 4
806 MTH085 Methyl Isocyanate Allergic Asthma 4
807 NCK003 Nickel Allergic Asthma 4
808 MLC007 Maleic Anhydride Allergic Asthma 4
809 CBL010 Cobalt Allergic Asthma 4
810 ETH007 Ethmoid Sinus Ectopic Meningioma 4
811 NRL012 Neurological Manifestations of Pompe Disease 4
812 ENC035 Encircling Double Aortic Arch 4
813 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
814 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
815 c PRN030 Paranasal Sinus Cancer, Adult 3
816 RSP025 Respiratory or Thoracic Malformation 3
817 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 52
818 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 47
819 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 38
820 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 33
821 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 27
822 PRS030 Persistent Fetal Circulation Syndrome 46
823 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 8
824 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66
825 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
826 PRR007 Perry Syndrome 53
827 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
828 P RNL028 Renal Tubular Dysgenesis 51
829 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 44
830 KTL001 Keutel Syndrome 41
831 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
832 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
833 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 27
834 c SPN225 Spondyloarthropathy 1 70
835 P HYP035 Hypophosphatasia 61
836 c HYP292 Hypophosphatasia, Infantile 56
837 P SPN052 Spondyloarthropathy 54
838 c HYP293 Hypophosphatasia, Adult 52
839 c NML025 Nemaline Myopathy 8 36
840 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 27
841 c JVN047 Juvenile Spondyloarthropathy 25
842 IMM194 Immunodeficiency 59 and Hypoglycemia 25
843 c SPN226 Spondyloarthropathy 2 16
844 c SPN256 Spondyloarthropathy 3 12
845 PLM055 Pulmonary Artery Familial Dilatation 2
846 P RHM011 Rheumatoid Arthritis 81
847 PLM134 Pulmonary Fibrosis, Idiopathic 76
848 P BRG001 Brugada Syndrome 69
849 P TMR010 Tumor Predisposition Syndrome 69
850 P CRD119 Cardiac Arrest 68
851 BRN024 Bronchitis 67
852 P MSC005 Muscular Dystrophy 66
853 c FML001 Familial Atrial Fibrillation 65
854 P HYP055 Hypoplastic Left Heart Syndrome 65
855 P PNM007 Pneumonia 64
856 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 64
857 WLF001 Wolff-Parkinson-White Syndrome 63
858 TBC004 Tobacco Addiction 63
859 P SPN046 Spinal Muscular Atrophy 62
860 LNG099 Lung Disease 62
861 c MCP047 Mucopolysaccharidosis, Type Iva 62
862 P SJG008 Sjogren Syndrome 60
863 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
864 P NSP012 Nasopharyngeal Carcinoma 60
865 ADN001 Adenosine Deaminase Deficiency 59
866 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 59
867 IDP011 Idiopathic Interstitial Pneumonia 59
868 c MCP044 Mucopolysaccharidosis, Type Iiib 58
869 CHL028 Childhood Type Dermatomyositis 58
870 BRN056 Bronchopulmonary Dysplasia 57
871 BRN002 Bronchiolitis 57
872 IRN002 Iron Metabolism Disease 56
873 c BRG005 Brugada Syndrome 1 56
874 P THY032 Thyroiditis 56
875 LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56
876 P CRB154 Cerebrocostomandibular Syndrome 55
877 SLC006 Silicosis 55
878 P FML068 Familial Hypocalciuric Hypercalcemia 55
879 c SPN395 Spinal Muscular Atrophy, Type Ii 55
880 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54
881 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 54
882 P VSC013 Visceral Heterotaxy 53
883 P LRY044 Larynx Cancer 53
884 CRY001 Cryptogenic Organizing Pneumonia 53
885 P ALL008 Allergic Bronchopulmonary Aspergillosis 53
886 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 53
887 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
888 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52
889 c VRL005 Viral Pneumonia 52
890 c SPN394 Spinal Muscular Atrophy, Type Iii 52
891 MYC087 Mycoplasma Pneumoniae Pneumonia 52
892 LNG017 Lung Giant Cell Carcinoma 52
893 ADN089 Adenosquamous Lung Carcinoma 51
894 PLR007 Pleural Empyema 50
895 P BRW001 Brown-Vialetto-Van Laere Syndrome 49
896 c ORF040 Orofaciodigital Syndrome Viii 49
897 ACT029 Acute Interstitial Pneumonia 49
898 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49
899 PLM035 Pulmonary Eosinophilia 49
900 c INV001 Invasive Aspergillosis 48
901 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48
902 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 48
903 SHR098 Short-Rib Thoracic Dysplasia 12 48
904 c BCT013 Bacterial Pneumonia 47
905 IMM088 Immunodeficiency 36 47
906 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47
907 NNT049 Nontuberculous Mycobacterial Lung Disease 47
908 PLM032 Pulmonary Blastoma 47
909 ASB001 Asbestosis 47
910 PNM005 Pneumonic Plague 46
911 ESN011 Eisenmenger Syndrome 46
912 c CNT015 Central Sleep Apnea 46
913 c BRG004 Brugada Syndrome 4 46
914 NSD001 Nose Disease 45
915 EXT033 Extrapulmonary Tuberculosis 45
916 PLR022 Pleural Disease 45
917 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
918 c SPN398 Spinal Muscular Atrophy, Type Iv 44
919 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
920 LRG014 Large Cell Neuroendocrine Carcinoma 44
921 P BRB001 Beriberi 44
922 LRY022 Laryngoonychocutaneous Syndrome 43
923 TRC020 Tracheitis 43
924 c SBC007 Subacute Thyroiditis 43
925 c MLG079 Malignant Pleural Mesothelioma 42
926 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
927 c CLR136 Ciliary Dyskinesia, Primary, 9 42
928 P BRN120 Bronchus Cancer 42
929 c CHR576 Chronic Beryllium Disease 42
930 c NML006 Nemaline Myopathy 5 42
931 c BRG007 Brugada Syndrome 5 41
932 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 40
933 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
934 P PRN020 Paranasal Sinus Cancer 40
935 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 40
936 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 39
937 ORN001 Ornithosis 39
938 P BRY005 Beryllium Disease 39
939 c HTR021 Heterotaxy, Visceral, 5, Autosomal 38
940 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 38
941 PSR016 Psoriatic Juvenile Idiopathic Arthritis 38
942 ETH001 Ethmoid Sinus Adenocarcinoma 37
943 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 37
944 c FTL072 Fetal Akinesia Deformation Sequence 4 37
945 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 37
946 P ACR106 Acrocephalopolysyndactyly Type Iii 36
947 c ORF038 Orofaciodigital Syndrome Iii 36
948 c BRG003 Brugada Syndrome 3 36
949 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36
950 c MSC050 Muscular Dystrophy, Congenital, 1b 36
951 NNT004 Neonatal Respiratory Failure 36
952 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 35
953 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35
954 PLM180 Pulmonary Artery Disease 35
955 MXL006 Maxillary Sinus Adenocarcinoma 34
956 c CLR042 Ciliary Dyskinesia, Primary, 6 34
957 LNG019 Lung Combined Type Small Cell Carcinoma 34
958 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 33
959 c BRG008 Brugada Syndrome 6 32
960 BRN133 Bronchomalacia 32
961 LNG091 Lung Mucoepidermoid Carcinoma 32
962 DRF001 Dirofilariasis 32
963 c CNG112 Congenital Muscular Dystrophy Type 1a 32
964 PHR002 Pharyngoconjunctival Fever 32
965 RSP005 Respiratory System Cancer 31
966 c PRG106 Progressive Muscular Dystrophy 31
967 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 31
968 c LNG001 Lung Clear Cell Carcinoma 31
969 LFF002 Loeffler Syndrome 31
970 c BRG006 Brugada Syndrome 2 31
971 c PST106 Post-Cardiac Arrest Syndrome 31
972 LTH001 Lethal Midline Granuloma 31
973 CMB044 Combined Oxidative Phosphorylation Deficiency 14 31
974 TRC115 Tracheopathia Osteoplastica 30
975 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
976 RSP004 Respiratory System Benign Neoplasm 30
977 PLM028 Pulmonary Coin Lesion 30
978 c CLR106 Ciliary Dyskinesia, Primary, 26 30
979 ADS001 Adiaspiromycosis 30
980 MXL004 Maxillary Sinus Squamous Cell Carcinoma 30
981 c CLR102 Ciliary Dyskinesia, Primary, 17 30
982 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
983 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 30
984 GLT004 Glottis Squamous Cell Carcinoma 30
985 c BRG012 Brugada Syndrome 9 29
986 EPT003 Epithelioid Trophoblastic Tumor 29
987 NSL005 Nasal Cavity Olfactory Neuroblastoma 29
988 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29
989 c ACT053 Acute Thyroiditis 29
990 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
991 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 28
992 EPG001 Epiglottis Neoplasm 28
993 CRK001 Cork-Handlers' Disease 28
994 LNG037 Lung Sarcoma 28
995 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 28
996 FKY002 Fukuyama Type Muscular Dystrophy 28
997 CLF051 Cleft Larynx, Posterior 27
998 TRC018 Tracheal Lymphoma 27
999 c DRY002 Dry Beriberi 27
1000 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 27
1001 CMB091 Combined Oxidative Phosphorylation Deficiency 39 27
1002 c FHT001 Fh Tumor Predisposition Syndrome 27
1003 MYC088 Mycobacterium Avium Complex Infections 27
1004 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
1005 c CLR067 Ciliary Dyskinesia, Primary, 4 27
1006 LNG009 Lung Meningioma 26
1007 MXL008 Maxillary Sinus Cancer 26
1008 TRC014 Trachea Adenoid Cystic Carcinoma 26
1009 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
1010 YNG002 Young Syndrome 26
1011 CLS002 Classic Pulmonary Blastoma 26
1012 c BRG010 Brugada Syndrome 8 26
1013 CPL001 Capillariasis 26
1014 SCH010 Schneiderian Carcinoma 25
1015 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1016 PRN002 Paranasal Sinus Lymphoma 25
1017 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 25
1018 FBR028 Fibrosing Mediastinitis 25
1019 VNT001 Ventilation Pneumonitis 25
1020 CMB078 Combined Oxidative Phosphorylation Deficiency 32 25
1021 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
1022 CMB085 Combined Oxidative Phosphorylation Deficiency 35 25
1023 ETH008 Ethmoid Sinus Cancer 24
1024 c BRG009 Brugada Syndrome 7 24
1025 c CLR125 Ciliary Dyskinesia, Primary, 33 24
1026 MTC209 Mitochondrial Complex Iv Deficiency, Nuclear Type 6 24
1027 c CLR053 Ciliary Dyskinesia, Primary, 11 24
1028 c HTR023 Heterotaxy, Visceral, 6, Autosomal 24
1029 c HTR020 Heterotaxy, Visceral, 8, Autosomal 24
1030 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
1031 PRP011 Puerperal Pulmonary Embolism 23
1032 TMP008 Tempi Syndrome 23
1033 c CLR117 Ciliary Dyskinesia, Primary, 32 23
1034 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 23
1035 c LTH027 Lethal Congenital Contracture Syndrome 5 23
1036 c ORF051 Orofaciodigital Syndrome Xvii 23
1037 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 23
1038 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 23
1039 SLD013 Solid Adenocarcinoma with Mucin Production 23
1040 SPR023 Supraglottis Squamous Cell Carcinoma 23
1041 c CLR099 Ciliary Dyskinesia, Primary, 16 23
1042 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 22
1043 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1044 MXL018 Maxillary Sinus Benign Neoplasm 22
1045 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 22
1046 HMN012 Hemangioma of Lung 22
1047 c CLR142 Ciliary Dyskinesia, Primary, 42 22
1048 LRY020 Larynx Sarcoma 22
1049 EPG002 Epiglottis Cancer 22
1050 c SPN444 Spinal Muscular Atrophy Type 0 22
1051 c CLR143 Ciliary Dyskinesia, Primary, 43 22
1052 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 22
1053 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 22
1054 c CLR088 Ciliary Dyskinesia, Primary, 21 22
1055 c CNG616 Congenital Heart Defects, Multiple Types, 7 21
1056 NRD108 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 21
1057 c CLR126 Ciliary Dyskinesia, Primary, 35 21
1058 c CLR145 Ciliary Dyskinesia, Primary, 45 20
1059 LNG016 Lung Papillary Adenocarcinoma 20
1060 DST013 Distal Myopathy with Vocal Cord Weakness 20
1061 c ADL080 Adult Acute Respiratory Distress Syndrome 20
1062 HTR026 Heterotaxy, Visceral, 9, Autosomal, with Male Infertility 20
1063 P SNS011 Sinus Cancer 19
1064 SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 19
1065 SGN005 Signet Ring Lung Adenocarcinoma 19
1066 c ACR108 Acrocephalopolysyndactyly Type Iv 19
1067 MTC217 Mitochondrial Complex Iv Deficiency, Nuclear Type 8 19
1068 MTC223 Mitochondrial Complex Iv Deficiency, Nuclear Type 16 19
1069 P NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 19
1070 HYP692 Hypersensitivity Pneumonitis, Familial 18
1071 c NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
1072 CTM001 Catamenial Pneumothorax 18
1073 MTC228 Mitochondrial Complex Iv Deficiency, Nuclear Type 21 17
1074 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
1075 MSP003 Misophonia 16
1076 PLM002 Pulmonary Plasma Cell Granuloma 16
1077 ALM003 Aluminosis 15
1078 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 15
1079 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 14
1080 STP010 Staphylococcal Necrotizing Pneumonia 14
1081 MNB001 Main Bronchus Cancer 13
1082 P CNG396 Congenital Pulmonary Airway Malformation Type 2 13
1083 CST006 Costocoracoid Ligament, Congenitally Short 13
1084 c HTR012 Heterotaxy, Visceral, 3, Autosomal 13
1085 c CNG398 Congenital Pulmonary Airway Malformation Type 1 13
1086 FTL048 Fetal Lung Interstitial Tumor 13
1087 TRC019 Trachea Sarcoma 12
1088 FRN005 Frontal Sinus Squamous Cell Carcinoma 12
1089 ISL036 Isolated Pulmonary Capillaritis 12
1090 MPL002 Maple Bark Strippers' Lung 12
1091 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 12
1092 TRC017 Trachea Squamous Cell Carcinoma 11
1093 c LNG086 Lung Cancer Susceptibility 5 11
1094 LNG110 Lung Mucinous Cystadenocarcinoma 11
1095 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 11
1096 PLM190 Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia 10
1097 c CNG257 Congenital Pulmonary Sequestration 10
1098 LRY001 Larynx Leiomyoma 10
1099 c LRY009 Larynx Carcinoma in Situ 10
1100 LRY006 Larynx Squamous Papilloma 9
1101 c CNG406 Congenital Pulmonary Airway Malformation Type 0 9
1102 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 9
1103 SBG004 Subglottis Squamous Cell Carcinoma 9
1104 MSH001 Mushroom Workers' Lung 9
1105 RRP031 Rare Pulmonary Disease 9
1106 c PLR020 Pleuropulmonary Blastoma Type 3 8
1107 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 8
1108 P INT354 Interstitial Lung Disease Specific to Childhood 8
1109 PRN003 Paranasal Sinus Sarcoma 8
1110 SPR015 Supraglottis Verrucous Carcinoma 8
1111 SBG003 Subglottis Verrucous Carcinoma 7
1112 GLT001 Glottis Neoplasm 7
1113 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
1114 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1115 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 7
1116 c PLR019 Pleuropulmonary Blastoma Type 2 7
1117 EPT004 Epithelial Predominant Pulmonary Blastoma 7
1118 BRN010 Bronchial Mucus Gland Adenoma 7
1119 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
1120 ETH015 Ethmoidal Sinus Benign Neoplasm 6
1121 INT351 Interstitial Lung Disease Specific to Infancy 6
1122 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
1123 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
1124 INT186 Intralobar Congenital Pulmonary Sequestration 6
1125 ISC018 Isocyanates Allergic Asthma 5
1126 P INT352 Interstitial Lung Disease Specific to Adulthood 5
1127 16Q002 16q24.1 Microdeletion Syndrome 5
1128 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 5
1129 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
1130 c BRN001 Bronchus Carcinoma in Situ 4
1131 TRC090 Trachea Mucoepidermoid Carcinoma 4
1132 LNG010 Lung Clear Cell-Sugar-Tumor 4
1133 LNG090 Lung Combined Type Small Cell Adenocarcinoma 4
1134 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
1135 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
1136 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
1137 TRM027 Trimellitic Anhydride Allergic Asthma 4
1138 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
1139 RSP022 Respiratory Malformation 4
1140 SCN072 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease 4
1141 SCN073 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease 4
1142 SCN074 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease 4
1143 SCN076 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease 4
1144 c PRM307 Primary Interstitial Lung Disease Specific to Adulthood 4
1145 SCN078 Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease 4
1146 PLM192 Pulmonary Hypertension with Unclear Multifactorial Mechanism 4
1147 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
1148 PHT014 Phthalic Anhydride Allergic Asthma 3
1149 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
1150 PLM107 Pulmonary Fungal Infections in Patients Deemed at Risk 3
1151 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
1152 SYN108 Syndrome with Pulmonary Hypertension As a Major Feature 3
1153 RRB010 Rare Bronchopulmonary Tumor 3
1154 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 2
1155 c CHR630 Chorea, Benign Hereditary 42
1156 P CHR636 Chorea, Benign Familial 12
1157 c ART115 Aortic Valve Disease 1 72
1158 P LPR021 Leprosy 3 71
1159 P CNG001 Congenital Myasthenic Syndrome 68
1160 c NMN015 Niemann-Pick Disease, Type C1 68
1161 ALP103 Alpha-1-Antitrypsin Deficiency 67
1162 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 67
1163 c ART101 Aortic Valve Disease 2 65
1164 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
1165 P HYP097 Hyperekplexia 62
1166 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61
1167 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 61
1168 INT066 Interstitial Lung Disease 60
1169 c ORF037 Orofaciodigital Syndrome I 59
1170 PNM010 Pneumothorax, Primary Spontaneous 58
1171 PLM033 Pulmonary Embolism 58
1172 c PRM012 Primary Polycythemia 58
1173 TTL012 Total Anomalous Pulmonary Venous Return 1 58
1174 PHR003 Pharyngitis 57
1175 CYS008 Cystic Echinococcosis 57
1176 TNS005 Tonsillitis 57
1177 EXT034 Extrinsic Allergic Alveolitis 56
1178 c NMN016 Niemann-Pick Disease, Type B 56
1179 P PLY018 Polycythemia 56
1180 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56
1181 ALL006 Allergic Asthma 55
1182 BRN015 Bronchiolo-Alveolar Adenocarcinoma 55
1183 c MYS051 Myasthenic Syndrome, Congenital, 5 53
1184 P PLM006 Pulmonary Alveolar Proteinosis 53
1185 P LMB006 Limb-Girdle Muscular Dystrophy 52
1186 ALP077 Alpha-Methylacetoacetic Aciduria 52
1187 P ART018 Aortic Valve Insufficiency 52
1188 STR008 Strongyloidiasis 52
1189 LNG020 Lung Oat Cell Carcinoma 51
1190 LNG031 Lung Benign Neoplasm 51
1191 c SPN393 Spinal Muscular Atrophy, Type I 50
1192 P PRR016 Pierre Robin Syndrome 50
1193 P ESN008 Eosinophilic Pneumonia 50
1194 c ORF035 Orofaciodigital Syndrome Iv 50
1195 c LYM145 Lymphatic Malformation 5 48
1196 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 48
1197 P RCR004 Recurrent Respiratory Papillomatosis 48
1198 INP001 Inappropriate Adh Syndrome 48
1199 P LRY029 Laryngomalacia 47
1200 LRY018 Laryngeal Squamous Cell Carcinoma 47
1201 c LYM144 Lymphatic Malformation 1 47
1202 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47
1203 c MYS074 Myasthenic Syndrome, Congenital, 12 47
1204 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
1205 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
1206 c MYS052 Myasthenic Syndrome, Congenital, 10 46
1207 c HYP543 Hypoplastic Left Heart Syndrome 1 46
1208 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 46
1209 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 46
1210 PRT014 Protein S Deficiency 46
1211 c JBR015 Joubert Syndrome 6 45
1212 c ACQ010 Acquired Polycythemia 45
1213 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45
1214 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 45
1215 c CHR037 Chronic Eosinophilic Pneumonia 45
1216 P SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 44
1217 P PLM085 Pulmonary Hemosiderosis 44
1218 c HYP699 Hyperekplexia 1 44
1219 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 44
1220 MDD018 Middle East Respiratory Syndrome 44
1221 IMM081 Immunodeficiency 19 44
1222 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 44
1223 c MYS078 Myasthenic Syndrome, Congenital, 14 43
1224 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 43
1225 c LYM150 Lymphatic Malformation 7 43
1226 TRC097 Tracheomalacia 43
1227 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
1228 c MYS070 Myasthenic Syndrome, Congenital, 19 42
1229 INT304 Interstitial Pneumonitis, Desquamative, Familial 42
1230 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 42
1231 ICH020 Ichthyosis Prematurity Syndrome 42
1232 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 41
1233 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 41
1234 INT271 Interstitial Lung and Liver Disease 41
1235 c MYS075 Myasthenic Syndrome, Congenital, 13 40
1236 c CLR066 Ciliary Dyskinesia, Primary, 2 40
1237 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 40
1238 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 39
1239 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 39
1240 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 39
1241 c MCP051 Mucopolysaccharidosis, Type Ix 38
1242 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 38
1243 PHH001 Phaeohyphomycosis 38
1244 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 38
1245 c HRM010 Hermansky-Pudlak Syndrome 7 38
1246 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 38
1247 c MYS076 Myasthenic Syndrome, Congenital, 8 38
1248 c CRN109 Cranioectodermal Dysplasia 2 37
1249 BSL003 Basaloid Lung Carcinoma 37
1250 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 37
1251 c MYS056 Myasthenic Syndrome, Congenital, 17 37
1252 LNG115 Lung Sarcomatoid Carcinoma 37
1253 c MYS067 Myasthenic Syndrome, Congenital, 22 36
1254 c FTL070 Fetal Akinesia Deformation Sequence 2 36
1255 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 36
1256 PLM018 Pulmonary Sclerosing Hemangioma 36
1257 LNG011 Lung Adenoid Cystic Carcinoma 35
1258 c HRM011 Hermansky-Pudlak Syndrome 8 35
1259 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
1260 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 34
1261 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34
1262 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 34
1263 c PLM127 Pulmonary Hypertension, Primary, 3 34
1264 c CLR095 Ciliary Dyskinesia, Primary, 19 34
1265 c HYP519 Hyperekplexia 3 34
1266 c MYS064 Myasthenic Syndrome, Congenital, 16 34
1267 SPR021 Supraglottis Cancer 33
1268 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 33
1269 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 33
1270 TRC025 Tracheal Cancer 33
1271 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 33
1272 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 33
1273 c OST176 Osteogenesis Imperfecta, Type Xx 33
1274 ASB002 Asbestos-Related Lung Carcinoma 32
1275 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 32
1276 P PLM182 Pulmonary Hypoplasia, Primary 32
1277 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 32
1278 HYP223 Hypoplastic Right Heart Syndrome 32
1279 P TRC024 Trachea Carcinoma 32
1280 MXL016 Maxillonasal Dysplasia, Binder Type 32
1281 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 32
1282 CTN013 Cutaneous Anthrax 32
1283 P RRL003 Rare Lymphatic Malformation 31
1284 PLM039 Pulmonary Neuroendocrine Tumor 31
1285 c MYS065 Myasthenic Syndrome, Congenital, 18 31
1286 LNG013 Lung Lymphoma 31
1287 c LYM149 Lymphatic Malformation 6 31
1288 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 31
1289 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 31
1290 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 30
1291 EMP011 Emphysema, Congenital Lobar 30
1292 LRY015 Laryngeal Benign Neoplasm 30
1293 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 30
1294 c MYS077 Myasthenic Syndrome, Congenital, 15 30
1295 c CLR134 Ciliary Dyskinesia, Primary, 3 30
1296 PLM007 Pulmonary Aspergilloma 30
1297 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
1298 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 29
1299 c CLR116 Ciliary Dyskinesia, Primary, 29 29
1300 MCN023 Mucinous Lung Adenocarcinoma 28
1301 SPR031 Sprengel Deformity 28
1302 MD1003 Med13l Haploinsufficiency Syndrome 28
1303 LRY005 Laryngeal Small Cell Carcinoma 28
1304 c PLM128 Pulmonary Hypertension, Primary, 2 28
1305 c ATS209 Autosomal Dominant Secondary Polycythemia 28
1306 c PLM121 Pulmonary Hypertension, Primary, 4 28
1307 c MCR212 Microphthalmia, Syndromic 12 28
1308 PRD048 Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome 27
1309 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 27
1310 SMR006 Smarca4-Deficient Sarcoma of Thorax 27
1311 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 27
1312 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 26
1313 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 26
1314 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
1315 HLR002 Hilar Lung Carcinoma 25
1316 PRN032 Paraneoplastic Cerebellar Degeneration 25
1317 c HYP510 Hyperekplexia 2 25
1318 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 25
1319 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 24
1320 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1321 c CLR098 Ciliary Dyskinesia, Primary, 27 24
1322 c HYP825 Hyperekplexia 4 23
1323 CMB072 Combined Oxidative Phosphorylation Deficiency 28 23
1324 c MCR217 Microphthalmia, Syndromic 11 23
1325 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
1326 c LYM147 Lymphatic Malformation 3 22
1327 TCL026 T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 22
1328 c LYM148 Lymphatic Malformation 4 22
1329 c CLR139 Ciliary Dyskinesia, Primary, 39 22
1330 P PLM064 Pulmonary Sequestration 22
1331 SPN447 Spinal Muscular Atrophy, Infantile, James Type 22
1332 c ART159 Aortic Valve Disease 3 21
1333 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1334 INF043 Infantile Apnea 21
1335 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 21
1336 IMM196 Immunodeficiency 15a 20
1337 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20
1338 LNG012 Lung Occult Squamous Cell Carcinoma 20
1339 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 20
1340 P LNG021 Lung Occult Small Cell Carcinoma 20
1341 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 20
1342 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 19
1343 c NSP015 Nasopharyngeal Carcinoma 3 19
1344 c LYM155 Lymphatic Malformation 8 19
1345 LRY011 Larynx Verrucous Carcinoma 19
1346 LNG117 Lung Pleomorphic Carcinoma 19
1347 c CLR144 Ciliary Dyskinesia, Primary, 44 19
1348 c LPR017 Leprosy 5 19
1349 c SCN051 Secondary Pulmonary Alveolar Proteinosis 19
1350 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18
1351 LNG022 Lung Acinar Adenocarcinoma 17
1352 c NSP009 Nasopharyngeal Carcinoma 2 17
1353 THR033 Thoracomelic Dysplasia 17
1354 PRM133 Primary Pulmonary Lymphoma 17
1355 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 17
1356 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 17
1357 DYS135 Dysphagia Lusoria 17
1358 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 17
1359 LNG034 Lung Hilum Cancer 16
1360 c CNG121 Congenital Pulmonary Alveolar Proteinosis 16
1361 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 16
1362 P PLM179 Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia 16
1363 c LYM146 Lymphatic Malformation 2 15
1364 LNG014 Lung Superior Sulcus Carcinoma 15
1365 CNG243 Congenital Subglottic Stenosis 14
1366 c LNG006 Lung Occult Large Cell Carcinoma 14
1367 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
1368 P LRY049 Laryngotracheoesophageal Cleft Type 4 13
1369 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
1370 LRY010 Laryngeal Adenoid Cystic Carcinoma 13
1371 c CNG397 Congenital Pulmonary Airway Malformation Type 3 13
1372 c ORF005 Orofaciodigital Syndrome 12 13
1373 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 12
1374 c SPR097 Sporadic Hyperekplexia 12
1375 LNG005 Lung Occult Adenocarcinoma 11
1376 c LYM158 Lymphatic Malformation 9 11
1377 c CNG405 Congenital Pulmonary Airway Malformation Type 4 11
1378 c SCN047 Secondary Pulmonary Hemosiderosis 10
1379 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
1380 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 9
1381 c CNG266 Congenital Secondary Polycythemia 8
1382 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 8
1383 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 8
1384 HLR001 Hilar Lung Neoplasm 8
1385 PLM023 Pulmonary Artery Choriocarcinoma 8
1386 c ACQ028 Acquired Secondary Polycythemia 7
1387 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 7
1388 LRY012 Laryngeal Cartilage Cancer 7
1389 c PLY005 Polycythemia Due to Hypoxia 6
1390 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1391 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
1392 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
1393 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
1394 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
1395 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
1396 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
1397 c RRD018 Rare Disease with Pierre Robin Syndrome 4
1398 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
1399 LGN002 Legionellosis 61
1400 RSP021 Respiratory Allergy 41
1401 LNG023 Lung Leiomyosarcoma 31
1402 P AST005 Asthma 75
1403 P JBR020 Joubert Syndrome 1 74
1404 c MCP050 Mucopolysaccharidosis, Type Ii 73
1405 P SYS005 Systemic Scleroderma 73
1406 P ADL010 Adult Respiratory Distress Syndrome 70
1407 P PLM037 Pulmonary Hypertension 69
1408 P LNG064 Lung Cancer Susceptibility 3 69
1409 BLS001 Blau Syndrome 68
1410 FBR011 Fibrodysplasia Ossificans Progressiva 67
1411 ELL001 Ellis-Van Creveld Syndrome 61
1412 c HRD002 Hereditary Angioedema 61
1413 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
1414 c MCP043 Mucopolysaccharidosis, Type Iiia 60
1415 c MCR256 Microphthalmia, Syndromic 9 60
1416 P MYC008 Myocarditis 59
1417 c THR082 Thrombophilia Due to Activated Protein C Resistance 58
1418 c MCP045 Mucopolysaccharidosis, Type Iiic 58
1419 P CRN323 Cranioectodermal Dysplasia 58
1420 c ANG068 Angioedema, Hereditary, Type I 58
1421 LNG039 Lung Squamous Cell Carcinoma 57
1422 P ULL002 Ullrich Congenital Muscular Dystrophy 1 56
1423 c MST023 Mesothelioma, Malignant 56
1424 P ANG015 Angioedema 56
1425 c MCR241 Microphthalmia, Syndromic 3 56
1426 FCT006 Factor V Deficiency 55
1427 ANT039 Antisynthetase Syndrome 55
1428 ACT055 Actinomycosis 54
1429 c ACH041 Achondrogenesis, Type Ii 54
1430 c LTH007 Lethal Congenital Contracture Syndrome 1 53
1431 c JBR041 Joubert Syndrome 3 53
1432 P LNG035 Lung Large Cell Carcinoma 53
1433 c JBR018 Joubert Syndrome 4 53
1434 c GCH016 Gaucher Disease, Type Ii 53
1435 c MCR261 Microphthalmia, Syndromic 2 50
1436 MTT002 Metatropic Dysplasia 49
1437 LYM004 Lymphoid Interstitial Pneumonia 49
1438 c MCR263 Microphthalmia, Syndromic 1 49
1439 c JBR012 Joubert Syndrome 5 48
1440 c MCR251 Microphthalmia, Syndromic 6 48
1441 LMT001 Limited Scleroderma 47
1442 c ACT076 Acute Myocarditis 46
1443 c JBR011 Joubert Syndrome 7 46
1444 P C3G002 C3 Glomerulopathy 46
1445 c JBR014 Joubert Syndrome 9 46
1446 HRT015 Heritable Pulmonary Arterial Hypertension 46
1447 c JBR025 Joubert Syndrome 17 45
1448 c JBR035 Joubert Syndrome 24 45
1449 c JBR013 Joubert Syndrome 8 45
1450 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 45
1451 P PRX014 Proximal Spinal Muscular Atrophy 44
1452 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 44
1453 PST020 Postpoliomyelitis Syndrome 43
1454 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 43
1455 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 43
1456 c JBR031 Joubert Syndrome 21 43
1457 c JBR028 Joubert Syndrome 13 43
1458 c JBR024 Joubert Syndrome 14 43
1459 c MCR312 Microphthalmia, Syndromic 10 39
1460 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 39
1461 SCR015 Scarlet Fever 38
1462 c ACQ012 Acquired Angioedema 37
1463 PLM151 Pulmonary Arteriovenous Fistulas 37
1464 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37
1465 c JBR022 Joubert Syndrome 20 36
1466 c ATM022 Autoimmune Myocarditis 35
1467 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 35
1468 c JBR030 Joubert Syndrome 22 35
1469 c JBR037 Joubert Syndrome 26 34
1470 P SYN165 Syndromic Microphthalmia 34
1471 c LTH026 Lethal Congenital Contracture Syndrome 4 34
1472 c C3G003 C3 Glomerulopathy 3 33
1473 c NML024 Nemaline Myopathy 11, Autosomal Recessive 32
1474 c JBR036 Joubert Syndrome 25 32
1475 c ANG045 Angioedema, Hereditary, Type Iii 31
1476 CMB054 Combined Oxidative Phosphorylation Deficiency 23 31
1477 c JBR045 Joubert Syndrome 33 31
1478 c ORF041 Orofaciodigital Syndrome X 30
1479 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 28
1480 LYM122 Lymphangiectasia, Pulmonary, Congenital 28
1481 c ULL003 Ullrich Congenital Muscular Dystrophy 2 27
1482 c JBR039 Joubert Syndrome 28 27
1483 c JBR044 Joubert Syndrome 31 27
1484 MGL033 Megalocornea-Mental Retardation Syndrome 26
1485 c LTH047 Lethal Congenital Contracture Syndrome 3 26
1486 c LNG109 Lung Cancer Susceptibility 1 26
1487 c JBR021 Joubert Syndrome 18 26
1488 c JBR027 Joubert Syndrome 16 25
1489 c JBR040 Joubert Syndrome 30 25
1490 c CLR097 Ciliary Dyskinesia, Primary, 23 25
1491 KPS005 Kaposiform Lymphangiomatosis 24
1492 c LTH032 Lethal Congenital Contracture Syndrome 7 24
1493 c JBR043 Joubert Syndrome 32 24
1494 RNL039 Renal Dysplasia-Limb Defects Syndrome 24
1495 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 24
1496 c LTH039 Lethal Congenital Contracture Syndrome 11 24
1497 c JBR047 Joubert Syndrome 35 23
1498 c CLR090 Ciliary Dyskinesia, Primary, 22 23
1499 c JBR038 Joubert Syndrome 27 22
1500 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1501 MYP154 Myopathy, Congenital, with Fast-Twitch Fiber Atrophy 21
1502 PLM116 Pulmonary Artery Hypoplasia 21
1503 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 21
1504 LRY003 Laryngeal Mucoepidermoid Carcinoma 21
1505 c JBR049 Joubert Syndrome 37 21
1506 c JBR048 Joubert Syndrome 36 20
1507 HYD053 Hydrocephalus with Associated Malformations 20
1508 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 19
1509 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 19
1510 c INF055 Infectious Myocarditis 17
1511 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 17
1512 c MXD051 Mixed Cryoglobulinemia Type Ii 16
1513 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1514 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 13
1515 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
1516 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 12
1517 c MXD037 Mixed Cryoglobulinemia Type Iii 12
1518 c ACQ036 Acquired Angioedema Type 2 10
1519 c LNG065 Lung Cancer Susceptibility 4 9
1520 c ACQ035 Acquired Angioedema Type 1 7
1521 RRR009 Rare Respiratory Tumor 6
1522 c RRP017 Rare Pulmonary Hypertension 5
1523 c SVR001 Severe Acute Respiratory Syndrome 68
1524 c LNG003 Lung Carcinoma in Situ 38
1525 CNT097 Central Hypoventilation Syndrome, Congenital 70
1526 P PRM011 Primary Ciliary Dyskinesia 68
1527 c SML038 Small Cell Cancer of the Lung 68
1528 P FTL069 Fetal Akinesia Deformation Sequence 1 63
1529 c NMN013 Niemann-Pick Disease, Type a 63
1530 P SLP005 Sleep Disorder 61
1531 TKY002 Takayasu Arteritis 61
1532 c MCP004 Mucopolysaccharidosis Iv 61
1533 P LRS001 Larsen Syndrome 61
1534 c SCL052 Scleroderma, Familial Progressive 60
1535 P NMN002 Niemann-Pick Disease 60
1536 MCS006 Macs Syndrome 57
1537 DST005 Diastrophic Dysplasia 57
1538 MXD005 Mixed Connective Tissue Disease 57
1539 HNT002 Hantavirus Pulmonary Syndrome 55
1540 c DVL042 Developmental and Epileptic Encephalopathy 14 53
1541 MCR088 Microscopic Polyangiitis 51
1542 c DVL033 Developmental and Epileptic Encephalopathy 1 50
1543 c DVL038 Developmental and Epileptic Encephalopathy 7 48
1544 c DVL029 Developmental and Epileptic Encephalopathy 2 47
1545 c DVL027 Developmental and Epileptic Encephalopathy 9 47
1546 c DVL034 Developmental and Epileptic Encephalopathy 3 46
1547 P DVL113 Developmental and Epileptic Encephalopathy 46
1548 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1549 c DVL037 Developmental and Epileptic Encephalopathy 5 45
1550 DFF035 Diffuse Cutaneous Systemic Sclerosis 45
1551 c DVL118 Developmental and Epileptic Encephalopathy 94 45
1552 c DVL041 Developmental and Epileptic Encephalopathy 13 44
1553 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 44
1554 P PLM025 Pulmonary Venoocclusive Disease 44
1555 FSC002 Fascioliasis 43
1556 TRC026 Tracheal Disease 43
1557 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
1558 YLL001 Yellow Nail Syndrome 42
1559 NSL029 Nasal Type Extranodal Nk/t-Cell Lymphoma 41
1560 c DVL039 Developmental and Epileptic Encephalopathy 11 41
1561 c DVL030 Developmental and Epileptic Encephalopathy 36 40
1562 c DVL028 Developmental and Epileptic Encephalopathy 8 40
1563 c ATL015 Atelosteogenesis, Type Ii 40
1564 c DVL035 Developmental and Epileptic Encephalopathy 4 40
1565 c DVL049 Developmental and Epileptic Encephalopathy 23 39
1566 c DVL036 Developmental and Epileptic Encephalopathy 39 39
1567 c DVL044 Developmental and Epileptic Encephalopathy 16 39
1568 c DVL052 Developmental and Epileptic Encephalopathy 26 39
1569 c DVL077 Developmental and Epileptic Encephalopathy 53 39
1570 c GCH013 Gaucher Disease, Type Iiic 39
1571 c DVL055 Developmental and Epileptic Encephalopathy 29 38
1572 c LRS002 Larsen-Like Syndrome 37
1573 c DVL040 Developmental and Epileptic Encephalopathy 12 37
1574 c DVL060 Developmental and Epileptic Encephalopathy 50 37
1575 c DVL050 Developmental and Epileptic Encephalopathy 24 37
1576 c DVL061 Developmental and Epileptic Encephalopathy 34 36
1577 c DVL059 Developmental and Epileptic Encephalopathy 33 36
1578 c DVL043 Developmental and Epileptic Encephalopathy 15 35
1579 c DVL067 Developmental and Epileptic Encephalopathy 42 35
1580 c DVL045 Developmental and Epileptic Encephalopathy 17 35
1581 c DVL100 Developmental and Epileptic Encephalopathy 76 33
1582 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 32
1583 c DVL057 Developmental and Epileptic Encephalopathy 31 32
1584 SPN348 Spondylometaphyseal Dysplasia, Axial 32
1585 c DVL046 Developmental and Epileptic Encephalopathy 18 31
1586 c DVL054 Developmental and Epileptic Encephalopathy 28 31
1587 c DVL069 Developmental and Epileptic Encephalopathy 44 31
1588 c DVL053 Developmental and Epileptic Encephalopathy 27 31
1589 c DVL090 Developmental and Epileptic Encephalopathy 66 30
1590 c DVL103 Developmental and Epileptic Encephalopathy 80 30
1591 c DVL062 Developmental and Epileptic Encephalopathy 35 29
1592 c DVL048 Developmental and Epileptic Encephalopathy 21 29
1593 c DVL063 Developmental and Epileptic Encephalopathy 37 29
1594 c PNT051 Pontocerebellar Hypoplasia, Type 1d 29
1595 c DVL058 Developmental and Epileptic Encephalopathy 32 28
1596 c DVL094 Developmental and Epileptic Encephalopathy 70 28
1597 IMM193 Immunodeficiency 58 27
1598 c DVL099 Developmental and Epileptic Encephalopathy 75 27
1599 c DVL114 Developmental and Epileptic Encephalopathy 91 27
1600 c DVL056 Developmental and Epileptic Encephalopathy 30 27
1601 c DVL078 Developmental and Epileptic Encephalopathy 54 27
1602 c DVL091 Developmental and Epileptic Encephalopathy 67 27
1603 c DVL088 Developmental and Epileptic Encephalopathy 64 27
1604 c DVL089 Developmental and Epileptic Encephalopathy 65 27
1605 c DVL076 Developmental and Epileptic Encephalopathy 52 27
1606 c DVL066 Developmental and Epileptic Encephalopathy 41 26
1607 c DVL115 Developmental and Epileptic Encephalopathy 92 26
1608 c DVL047 Developmental and Epileptic Encephalopathy 19 26
1609 c DVL079 Developmental and Epileptic Encephalopathy 55 26
1610 c DVL072 Developmental and Epileptic Encephalopathy 47 26
1611 c DVL064 Developmental and Epileptic Encephalopathy 38 26
1612 c DVL101 Developmental and Epileptic Encephalopathy 78 26
1613 c DVL080 Developmental and Epileptic Encephalopathy 56 26
1614 c DVL073 Developmental and Epileptic Encephalopathy 48 26
1615 c DVL071 Developmental and Epileptic Encephalopathy 46 26
1616 c DVL068 Developmental and Epileptic Encephalopathy 43 26
1617 c DVL093 Developmental and Epileptic Encephalopathy 69 25
1618 c DVL092 Developmental and Epileptic Encephalopathy 68 25
1619 c DVL081 Developmental and Epileptic Encephalopathy 57 25
1620 c DVL074 Developmental and Epileptic Encephalopathy 49 25
1621 P ENC069 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 25
1622 c DVL075 Developmental and Epileptic Encephalopathy 51 25
1623 c DVL097 Developmental and Epileptic Encephalopathy 73 25
1624 c HYP831 Hyperparathyroidism, Transient Neonatal 25
1625 c DVL109 Developmental and Epileptic Encephalopathy 87 25
1626 c DVL083 Developmental and Epileptic Encephalopathy 59 25
1627 c DVL107 Developmental and Epileptic Encephalopathy 84 25
1628 c ENC066 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 25
1629 c DVL086 Developmental and Epileptic Encephalopathy 62 25
1630 c DVL070 Developmental and Epileptic Encephalopathy 45 25
1631 c ORF046 Orofaciodigital Syndrome Xvi 25
1632 c DVL084 Developmental and Epileptic Encephalopathy 60 24
1633 c DVL112 Developmental and Epileptic Encephalopathy 89 24
1634 c DVL104 Developmental and Epileptic Encephalopathy 81 24
1635 c DVL116 Developmental and Epileptic Encephalopathy 93 24
1636 c DVL087 Developmental and Epileptic Encephalopathy 63 24
1637 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1638 c DVL098 Developmental and Epileptic Encephalopathy 74 24
1639 c DVL105 Developmental and Epileptic Encephalopathy 82 24
1640 c DVL102 Developmental and Epileptic Encephalopathy 79 24
1641 c DVL095 Developmental and Epileptic Encephalopathy 71 24
1642 c DVL085 Developmental and Epileptic Encephalopathy 61 23
1643 c DVL065 Developmental and Epileptic Encephalopathy 40 23
1644 c DVL096 Developmental and Epileptic Encephalopathy 72 23
1645 c DVL106 Developmental and Epileptic Encephalopathy 83 22
1646 c DVL082 Developmental and Epileptic Encephalopathy 58 22
1647 P RGD004 Rigid Spine Muscular Dystrophy 21
1648 c DVL110 Developmental and Epileptic Encephalopathy 88 21
1649 c DVL108 Developmental and Epileptic Encephalopathy 86 20
1650 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
1651 c DVL032 Developmental and Epileptic Encephalopathy 90 17
1652 c LPR020 Leprosy 6 16
1653 c DVL119 Developmental and Epileptic Encephalopathy 6b 13
1654 c PSD023 Pseudo-Gaucher Disease 10
1655 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 10
1656 c RRS011 Rare Sleep Disorder 9
1657 CNG564 Congenital Respiratory-Biliary Fistula 9
1658 P HRN027 Hernia, Anterior Diaphragmatic 9
1659 MCR141 Mucormycosis 59
1660 PLG002 Plague 58
1661 PRT037 Pertussis 49
1662 c MYC055 Mycobacterium Tuberculosis 3 13
1663 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
1664 P GCH001 Gaucher's Disease 69
1665 P LVR013 Liver Disease 68
1666 c ATS013 Autosomal Recessive Congenital Ichthyosis 66
1667 c WLM013 Wilms Tumor 1 65
1668 BRT002 Birt-Hogg-Dube Syndrome 64
1669 c DPH024 Diaphragmatic Hernia, Congenital 63
1670 c MCP049 Mucopolysaccharidosis, Type Vii 62
1671 P OST135 Osteogenesis Imperfecta, Type I 60
1672 c OST122 Osteogenesis Imperfecta, Type Iii 57
1673 c ACT134 Acute Liver Failure 57
1674 c LSS005 Lissencephaly 1 57
1675 P ICH004 Ichthyosis 56
1676 c OST080 Osteogenesis Imperfecta, Type Ii 55
1677 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 54
1678 c LSS006 Lissencephaly 2 54
1679 c MCP048 Mucopolysaccharidosis, Type Ivb 54
1680 c WLM018 Wilms Tumor 5 53
1681 PRC002 Paracoccidioidomycosis 53
1682 P LSS002 Lissencephaly 52
1683 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
1684 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 51
1685 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 50
1686 c OST119 Osteogenesis Imperfecta, Type Vii 50
1687 c MCP046 Mucopolysaccharidosis, Type Iiid 50
1688 c NML002 Nemaline Myopathy 1 49
1689 P CRY007 Cryoglobulinemia, Familial Mixed 48
1690 c CRN108 Cranioectodermal Dysplasia 1 48
1691 c OST121 Osteogenesis Imperfecta, Type Iv 48
1692 PLM017 Pulmonary Alveolar Microlithiasis 48
1693 c OST132 Osteogenesis Imperfecta, Type Vi 46
1694 TXC011 Toxocariasis 46
1695 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 45
1696 c HRM012 Hermansky-Pudlak Syndrome 9 45
1697 IMM177 Immunodeficiency 54 45
1698 c INF145 Infantile Liver Failure Syndrome 1 44
1699 c JBR016 Joubert Syndrome 10 44
1700 c HRM006 Hermansky-Pudlak Syndrome 3 43
1701 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 43
1702 NCT003 N-Acetylglutamate Synthase Deficiency 43
1703 c JBR026 Joubert Syndrome 15 43
1704 c OST118 Osteogenesis Imperfecta, Type Viii 43
1705 c OST124 Osteogenesis Imperfecta, Type V 42
1706 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 41
1707 c LSS009 Lissencephaly 3 40
1708 c OST110 Osteogenesis Imperfecta, Type Xv 38
1709 c LSS010 Lissencephaly 4 38
1710 c OST133 Osteogenesis Imperfecta, Type Xi 38
1711 c OST128 Osteogenesis Imperfecta, Type Xii 36
1712 c OST123 Osteogenesis Imperfecta, Type Xiii 36
1713 c OST130 Osteogenesis Imperfecta, Type Ix 35
1714 c LVR030 Liver Failure, Infantile, Transient 34
1715 c OST127 Osteogenesis Imperfecta, Type X 34
1716 c OST170 Osteogenesis Imperfecta, Type Xix 33
1717 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 33
1718 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 33
1719 c OST109 Osteogenesis Imperfecta, Type Xiv 33
1720 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 33
1721 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 32
1722 c OST138 Osteogenesis Imperfecta, Type Xvii 32
1723 c OST169 Osteogenesis Imperfecta, Type Xviii 32
1724 NCR015 Necrotizing Autoimmune Myopathy 32
1725 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 31
1726 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 31
1727 P HRD009 Hereditary Wilms' Tumor 31
1728 c INF194 Infantile Liver Failure Syndrome 30
1729 c OST139 Osteogenesis Imperfecta, Type Xvi 30
1730 c ICH023 Ichthyosis, Acquired 30
1731 LRY013 Laryngeal Neuroendocrine Tumor 30
1732 c INF138 Infantile Liver Failure Syndrome 2 29
1733 c LSS025 Lissencephaly 5 28
1734 c FML094 Familial Wilms Tumor 2 28
1735 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 28
1736 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 27
1737 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 27
1738 c CRN110 Cranioectodermal Dysplasia 3 27
1739 c WLM005 Wilms Tumor 2 26
1740 c LSS035 Lissencephaly 8 25
1741 c WLM011 Wilms Tumor 6 25
1742 c HRM020 Hermansky-Pudlak Syndrome 10 24
1743 c LSS042 Lissencephaly 10 24
1744 c OST178 Osteogenesis Imperfecta, Type Xxi 23
1745 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 22
1746 c ORF045 Orofaciodigital Syndrome Xv 22
1747 c INF190 Infantile Liver Failure Syndrome 3 21
1748 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 21
1749 c LPR023 Leprosy 1 20
1750 c INH022 Inherited Ichthyosis 19
1751 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 19
1752 c WLM017 Wilms Tumor 4 18
1753 c WLM015 Wilms Tumor 3 17
1754 c LSS044 Lissencephaly 6 10
1755 c ATS439 Autosomal Ichthyosis Syndrome 7
1756 c MYC054 Mycobacterium Tuberculosis 2 13
1757 c MCP001 Mucopolysaccharidosis Iii 69
1758 c HRD010 Hereditary Spastic Paraplegia 65
1759 P HRM001 Hermansky-Pudlak Syndrome 65
1760 P PLR004 Pleuropulmonary Blastoma 65
1761 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 63
1762 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63
1763 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1764 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1765 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1766 c HRM005 Hermansky-Pudlak Syndrome 1 55
1767 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1768 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51
1769 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1770 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 49
1771 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 49
1772 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 49
1773 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 49
1774 c NMN014 Niemann-Pick Disease, Type C2 49
1775 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
1776 c HRM009 Hermansky-Pudlak Syndrome 6 46
1777 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 45
1778 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 45
1779 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1780 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 44
1781 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1782 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 44
1783 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 44
1784 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 43
1785 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 43
1786 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 43
1787 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 42
1788 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1789 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 42
1790 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 42
1791 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 42
1792 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
1793 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1794 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41
1795 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 41
1796 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
1797 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
1798 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
1799 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40
1800 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
1801 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 39
1802 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 39
1803 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 39
1804 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1805 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 38
1806 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 38
1807 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
1808 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 38
1809 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1810 c SPS092 Spastic Paraplegia 11 37
1811 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 37
1812 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
1813 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 36
1814 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1815 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
1816 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 33
1817 P SPS012 Spastic Paraplegia 3a 33
1818 c SPS036 Spastic Paraplegia 3 32
1819 c HRD220 Hereditary Spastic Paraplegia 30 32
1820 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 32
1821 c HRD186 Hereditary Spastic Paraplegia 51 31
1822 c SPS013 Spastic Paraplegia 8 31
1823 c SPS039 Spastic Paraplegia 5a 31
1824 c SPS025 Spastic Paraplegia 15 30
1825 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
1826 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
1827 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 30
1828 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1829 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29
1830 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1831 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 29
1832 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 28
1833 c SPS091 Spastic Paraplegia 4 28
1834 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1835 c SPS021 Spastic Paraplegia 10 28
1836 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 28
1837 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
1838 c HRD188 Hereditary Spastic Paraplegia 72 28
1839 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1840 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1841 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
1842 c SPS041 Spastic Paraplegia 6 26
1843 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1844 c SPS027 Spastic Paraplegia 17 25
1845 c HRD210 Hereditary Spastic Paraplegia 23 24
1846 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
1847 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 22
1848 c SPS038 Spastic Paraplegia 39 22
1849 c HRM023 Hermansky-Pudlak Syndrome 11 22
1850 c SPS042 Spastic Paraplegia 9 22
1851 c SPS023 Spastic Paraplegia 13 21
1852 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 19
1853 c SPS022 Spastic Paraplegia 12 18
1854 c SPS028 Spastic Paraplegia 18 17
1855 c SPS034 Spastic Paraplegia 26 17
1856 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1857 c SPS032 Spastic Paraplegia 24 15
1858 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1859 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1860 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1861 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1862 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 14
1863 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1864 c SPS029 Spastic Paraplegia 19 14
1865 c SPS035 Spastic Paraplegia 29 13
1866 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1867 c SPS024 Spastic Paraplegia 14 12
1868 c SPS165 Spastic Paraplegia 47 12
1869 c SPS161 Spastic Paraplegia 32 12
1870 c SPS026 Spastic Paraplegia 16 11
1871 c SPS033 Spastic Paraplegia 25 11
1872 c SPS230 Spastic Paraplegia Type 49 10
1873 c SPS040 Spastic Paraplegia 5b 7
1874 P MYC084 Mycobacterium Tuberculosis 1 68
1875 c PLM164 Pulmonary Hypertension, Primary, 1 75
1876 c GLY008 Glycogen Storage Disease Ii 72
1877 P CHR012 Chronic Granulomatous Disease 69
1878 c GLY060 Glycogen Storage Disease Ia 62
1879 c GLY004 Glycogen Storage Disease V 62
1880 c GLY003 Glycogen Storage Disease Iii 60
1881 c GLY005 Glycogen Storage Disease Vi 59
1882 P GLY013 Glycogen Storage Disease 59
1883 c GLY007 Glycogen Storage Disease Iv 58
1884 c GLY011 Glycogen Storage Disease Vii 54
1885 c GLY098 Glycogen Storage Disease, Type Ixd 45
1886 c GLY097 Glycogen Storage Disease Ixb 44
1887 c GLY016 Glycogen Storage Disease Ib 41
1888 c GLY009 Glycogen Storage Disease Xv 39
1889 c GLY044 Glycogen Storage Disease Ixc 37
1890 c GLY006 Glycogen Storage Disease Viii 34
1891 c GLY057 Glycogen Storage Disease X 34
1892 c GLY043 Glycogen Storage Disease Xii 33
1893 c GLY017 Glycogen Storage Disease Ic 30
1894 c GLY023 Glycogen Storage Disease Type 0 27
1895 c GLY093 Glycogen Storage Disease Ixa 26
1896 c GLY059 Glycogen Storage Disease Xiii 26
1897 c GLY001 Glycogen Storage Disease Ix 25
1898 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
1899 c LTH042 Lethal Congenital Contracture Syndrome 10 23
1900 P PLY041 Polymyositis 58
1901 c ORF036 Orofaciodigital Syndrome Xiv 31
1902 c ORF052 Orofaciodigital Syndrome Xviii 24
1903 c ORF033 Orofaciodigital Syndrome V 43
1904 c ORF039 Orofaciodigital Syndrome Vii 21
1905 c ORF006 Orofaciodigital Syndrome 13 12
1906 c ORF034 Orofaciodigital Syndrome Vi 55
1907 c ORF042 Orofaciodigital Syndrome Xi 25



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