Respiratory Diseases Category (1347 diseases)


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

# Family MCID Name MIFTS
1 CYS044 Cystic Disease of Lung 28
2 LGN006 Legionnaire Disease 50
3 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 38
4 PRG008 Paragonimiasis 38
5 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 31
6 P SLP006 Sleep Apnea 69
7 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
8 PRQ001 Paraquat Lung 16
9 P PTN014 Patent Ductus Arteriosus 1 60
10 BRT055 Breath-Holding Spells 30
11 P ATR011 Atrial Fibrillation 66
12 SPR004 Supravalvular Aortic Stenosis 58
13 HST011 Histoplasmosis 54
14 c SPN330 Spondylocostal Dysostosis 5 49
15 c ATR061 Atrial Fibrillation, Familial, 10 28
16 c ATR092 Atrial Fibrillation, Familial, 15 27
17 c ATR038 Atrial Fibrillation, Familial, 3 27
18 c ATR035 Atrial Fibrillation, Familial, 6 24
19 c ATR037 Atrial Fibrillation, Familial, 7 23
20 c ATR026 Atrial Fibrillation, Familial, 1 22
21 c ATR059 Atrial Fibrillation, Familial, 11 21
22 c ATR068 Atrial Fibrillation, Familial, 14 21
23 c ATR085 Atrial Fibrillation, Familial, 18 21
24 c ATR072 Atrial Fibrillation, Familial, 13 20
25 c ATR069 Atrial Fibrillation, Familial, 12 19
26 c ATR070 Atrial Fibrillation, Familial, 9 18
27 c ATR039 Atrial Fibrillation, Familial, 4 18
28 c ATR027 Atrial Fibrillation, Familial, 5 15
29 GRH002 Graham Boyle Troxell Syndrome 14
30 LBR003 Labrador Lung 13
31 c ATR025 Atrial Fibrillation, Familial, 2 13
32 c ATR028 Atrial Fibrillation, Familial, 8 13
33 MNV001 Manouvrier Syndrome 8
34 SLC011 Silicosiderosis 8
35 APN008 Apnea, Obstructive Sleep 65
36 P PNC025 Panic Disorder 53
37 P SMK004 Smoking As a Quantitative Trait Locus 3 44
38 c PNC122 Panic Disorder 1 18
39 c PNC068 Panic Disorder 3 13
40 c PNC070 Panic Disorder 2 13
41 URT041 Urethral Obstruction Sequence 13
42 GRP001 Graphite Pneumoconiosis 11
43 c SMK001 Smoking As a Quantitative Trait Locus 1 9
44 GNT107 Genetic Interstitial Lung Disease 8
45 c SMK002 Smoking As a Quantitative Trait Locus 2 7
46 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 6
47 OBS498 Obsolete: Hiv-Related Lung Cancer 3
48 CLB015 Colobomata Unilobar Lung Heart Defect 3
49 OBS559 Obsolete: Graft Rejection After Lung Transplantation 3
50 TBC004 Tobacco Addiction 64
51 P GCH001 Gaucher's Disease 64
52 c MCP049 Mucopolysaccharidosis, Type Vii 63
53 P MYC008 Myocarditis 59
54 NWB001 Newborn Respiratory Distress Syndrome 58
55 AVN001 Avian Influenza 56
56 PTN001 Patent Foramen Ovale 56
57 P PLM034 Pulmonary Emphysema 56
58 PLM010 Pulmonary Edema 55
59 ESN011 Eisenmenger Syndrome 54
60 HNC001 Henoch-Schoenlein Purpura 54
61 c GCH017 Gaucher Disease, Type Iii 51
62 ACT017 Acute Chest Syndrome 50
63 PLR001 Pleural Tuberculosis 50
64 RSP006 Respiratory System Disease 50
65 MYC087 Mycoplasma Pneumoniae Pneumonia 50
66 STT002 Status Asthmaticus 49
67 SHR044 Short Rib-Polydactyly Syndrome 49
68 RCR004 Recurrent Respiratory Papillomatosis 48
69 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 48
70 PLM035 Pulmonary Eosinophilia 48
71 c BCT013 Bacterial Pneumonia 47
72 MCC002 Mucocutaneous Leishmaniasis 47
73 c CNT015 Central Sleep Apnea 46
74 c ACT076 Acute Myocarditis 46
75 c CHR048 Chronic Rhinitis 45
76 CHL147 Chlamydia Pneumonia 45
77 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 45
78 STR103 Streptococcus Pneumonia 45
79 c CHR037 Chronic Eosinophilic Pneumonia 45
80 ASP004 Asphyxia Neonatorum 45
81 PLR022 Pleural Disease 44
82 PRN021 Paranasal Sinus Disease 44
83 IDP074 Idiopathic Bronchiectasis 43
84 c CHR546 Chronic Mountain Sickness 42
85 ASP008 Aspiration Pneumonitis 42
86 SWN001 Swine Influenza 42
87 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
88 LRY017 Laryngeal Disease 42
89 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 41
90 BRY001 Berylliosis 40
91 PLM052 Pulmonary Arteriovenous Malformation 39
92 KLB003 Klebsiella Pneumonia 39
93 CHY005 Chylothorax, Congenital 39
94 CRN319 Coronavirus Infection 38
95 TRC005 Tracheal Stenosis 38
96 ADN067 Adenoid Hypertrophy 37
97 VSM001 Vasomotor Rhinitis 37
98 P MXL015 Maxillary Sinusitis 37
99 BGS001 Bagassosis 37
100 UPP004 Upper Respiratory Tract Disease 36
101 LRY007 Laryngeal Tuberculosis 36
102 PLM018 Pulmonary Sclerosing Hemangioma 35
103 SCK001 Sick Building Syndrome 35
104 NNT004 Neonatal Respiratory Failure 35
105 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 35
106 PLM180 Pulmonary Artery Disease 35
107 CGH001 Cough Variant Asthma 35
108 c ATM022 Autoimmune Myocarditis 35
109 SLF002 Silo Filler's Disease 35
110 INT011 Interstitial Emphysema 34
111 INT040 Intrinsic Asthma 34
112 c CHR057 Chronic Laryngitis 34
113 EMP011 Emphysema, Congenital Lobar 34
114 TRC020 Tracheitis 33
115 NSL022 Nasal Cavity Disease 33
116 c CLR042 Ciliary Dyskinesia, Primary, 6 33
117 ADN002 Adenoiditis 33
118 NSP003 Nasopharyngeal Disease 33
119 EPG003 Epiglottitis 33
120 ATR003 Atrophic Rhinitis 33
121 PLR005 Pleuropneumonia 32
122 MXL016 Maxillonasal Dysplasia, Binder Type 31
123 DRF001 Dirofilariasis 31
124 LRY004 Laryngotracheitis 31
125 c ACT059 Acute Maxillary Sinusitis 31
126 HMP003 Hemopneumothorax 30
127 c CHR038 Chronic Maxillary Sinusitis 30
128 SPH007 Sphenoid Sinusitis 30
129 ETH009 Ethmoid Sinusitis 30
130 c ACT072 Acute Laryngitis 30
131 c CHR047 Chronic Ethmoiditis 30
132 PLM013 Pulmonary Immaturity 29
133 DFF002 Diffuse Pulmonary Fibrosis 29
134 TXC007 Toxic Pneumonitis 29
135 BRD005 Borderline Leprosy 29
136 P FRN011 Frontal Sinusitis 29
137 PLM007 Pulmonary Aspergilloma 28
138 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 28
139 ACT018 Acute Laryngopharyngitis 28
140 TRC110 Tracheobronchial Stenosis, Congenital 28
141 BYS001 Byssinosis 28
142 P IDP090 Idiopathic Eosinophilic Pneumonia 28
143 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 28
144 END019 Endobronchial Leiomyoma 26
145 ADS001 Adiaspiromycosis 26
146 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
147 DFF031 Diffuse Alveolar Hemorrhage 26
148 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
149 MDD005 Middle Lobe Syndrome 26
150 CLS002 Classic Pulmonary Blastoma 26
151 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 25
152 c ACT035 Acute Frontal Sinusitis 25
153 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
154 c CLR094 Ciliary Dyskinesia, Primary, 28 25
155 P ACT034 Acute Ethmoiditis 25
156 c CLR092 Ciliary Dyskinesia, Primary, 18 25
157 ANR006 Anaerobic Pneumonia 25
158 TRC016 Tracheal Calcification 25
159 UVL006 Uvulitis 25
160 c CLR140 Ciliary Dyskinesia, Primary, 40 24
161 CMP003 Compensatory Emphysema 24
162 TBR009 Tuberculous Empyema 24
163 APN006 Apnea of Prematurity 23
164 c CLR139 Ciliary Dyskinesia, Primary, 39 23
165 ANT017 Anthracosilicosis 23
166 c CHR040 Chronic Frontal Sinusitis 23
167 c CLR102 Ciliary Dyskinesia, Primary, 17 23
168 c LCL003 Localized Pulmonary Fibrosis 22
169 PLR025 Pleuroparenchymal Fibroelastosis 22
170 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 22
171 ATR024 Atrial Fibrillation and Stroke 22
172 c SCN051 Secondary Pulmonary Alveolar Proteinosis 22
173 c PTN013 Patent Ductus Arteriosus 2 22
174 c MCR217 Microphthalmia, Syndromic 11 21
175 ACT016 Actinobacillosis 21
176 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 20
177 SPN014 Spontaneous Tension Pneumothorax 19
178 MXL005 Maxillary Sinus Inverted Papilloma 19
179 c CLR141 Ciliary Dyskinesia, Primary, 41 19
180 PST015 Postinflammatory Pulmonary Fibrosis 19
181 c CLR142 Ciliary Dyskinesia, Primary, 42 18
182 c CNG121 Congenital Pulmonary Alveolar Proteinosis 18
183 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
184 c INF055 Infectious Myocarditis 17
185 PLM108 Pulmonary Interstitial Glycogenosis 17
186 ISL118 Isolated Tracheoesophageal Fistula 16
187 c CHR039 Chronic Sphenoidal Sinusitis 14
188 CHR468 Chronic Pneumonitis of Infancy 14
189 KLN003 Kaolin Pneumoconiosis 14
190 SPH005 Sphenoid Sinus Inverted Papilloma 14
191 DPH028 Diaphragmatic Flutter 13
192 c BRN144 Bronchiectasis 2 13
193 P ACT061 Acute Sphenoidal Sinusitis 13
194 ISL036 Isolated Pulmonary Capillaritis 13
195 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
196 TBR004 Tuberculous Pneumothorax 12
197 c BRN143 Bronchiectasis 1 10
198 c BRN145 Bronchiectasis 3 9
199 c EMP012 Emphysema, Hereditary Pulmonary 9
200 SLT003 Slate Pneumoconiosis 9
201 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
202 MXL003 Maxillary Sinus Schneiderian Papilloma 8
203 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 8
204 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 8
205 NSL002 Nasal Vestibule Papilloma 7
206 c PLR019 Pleuropulmonary Blastoma Type 2 7
207 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
208 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 6
209 16Q002 16q24.1 Microdeletion Syndrome 5
210 INT186 Intralobar Congenital Pulmonary Sequestration 5
211 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 5
212 RSP022 Respiratory Malformation 5
213 ETH007 Ethmoid Sinus Ectopic Meningioma 4
214 MXD022 Mixed Mineral Dust Pneumoconiosis 3
215 PLM107 Pulmonary Fungal Infections in Patients Deemed at Risk 3
216 RSP025 Respiratory or Thoracic Malformation 2
217 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 31
218 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
219 TMR016 Tumor Suppressor Gene on Chromosome 11 28
220 DFC004 Deficiency Anemia 75
221 SRF006 Surfactant Dysfunction 35
222 c BSL007 Basal Cell Carcinoma 68
223 TTL012 Total Anomalous Pulmonary Venous Return 1 57
224 CRC006 Carcinoid Syndrome 55
225 ECH003 Echinococcosis 53
226 P SML001 Small Cell Carcinoma 52
227 c LRG001 Large Cell Carcinoma 49
228 c BSL024 Basal Cell Carcinoma 1 47
229 c BSL011 Basal Cell Carcinoma, Multiple 38
230 c CLL013 Cell Type Cancer 29
231 c BSL034 Basal Cell Carcinoma 7 26
232 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
233 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 17
234 c BSL027 Basal Cell Carcinoma 4 16
235 c BSL025 Basal Cell Carcinoma 2 14
236 c BSL026 Basal Cell Carcinoma 3 14
237 c BSL029 Basal Cell Carcinoma 6 13
238 c BSL028 Basal Cell Carcinoma 5 13
239 ELL004 Ellis Yale Winter Syndrome 7
240 P JBR020 Joubert Syndrome 1 72
241 P BRL012 Bare Lymphocyte Syndrome, Type Ii 65
242 P DRM010 Dermatomyositis 61
243 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 53
244 c BRL011 Bare Lymphocyte Syndrome, Type I 53
245 c JBR041 Joubert Syndrome 3 52
246 c JBR018 Joubert Syndrome 4 49
247 c JBR004 Joubert Syndrome 2 47
248 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 47
249 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 46
250 c JBR012 Joubert Syndrome 5 46
251 OBS037 Obesity-Hypoventilation Syndrome 45
252 c JBR011 Joubert Syndrome 7 45
253 c JBR025 Joubert Syndrome 17 45
254 c JBR024 Joubert Syndrome 14 43
255 c JBR035 Joubert Syndrome 24 43
256 c JBR013 Joubert Syndrome 8 42
257 c JBR014 Joubert Syndrome 9 42
258 c JBR031 Joubert Syndrome 21 41
259 c JBR022 Joubert Syndrome 20 38
260 c JBR028 Joubert Syndrome 13 38
261 ESP029 Esophageal Atresia/tracheoesophageal Fistula 36
262 c JBR027 Joubert Syndrome 16 36
263 c JBR037 Joubert Syndrome 26 36
264 c JBR030 Joubert Syndrome 22 36
265 c JBR042 Joubert Syndrome 23 36
266 c JBR045 Joubert Syndrome 33 30
267 c ADL027 Adult Dermatomyositis 30
268 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 26
269 c JBR039 Joubert Syndrome 28 26
270 c JBR043 Joubert Syndrome 32 26
271 c JBR021 Joubert Syndrome 18 25
272 c JBR040 Joubert Syndrome 30 25
273 c JBR036 Joubert Syndrome 25 25
274 c JBR047 Joubert Syndrome 35 24
275 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 24
276 c JBR038 Joubert Syndrome 27 23
277 c JBR044 Joubert Syndrome 31 23
278 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
279 ACT231 Acute Flaccid Myelitis 19
280 c JBR048 Joubert Syndrome 36 11
281 RRD032 Rare Disorder Potentially Indicated for Lung Transplant 3
282 CYS001 Cystic Fibrosis 80
283 P RHM011 Rheumatoid Arthritis 80
284 P HRT032 Heart Disease 75
285 PLM129 Pulmonary Disease, Chronic Obstructive 73
286 c GCH015 Gaucher Disease, Type I 70
287 P BRG001 Brugada Syndrome 70
288 BRN024 Bronchitis 68
289 P PNM007 Pneumonia 68
290 c MCP052 Mucopolysaccharidosis, Type Vi 67
291 c PRG042 Progressive Familial Heart Block, Type Ia 67
292 P ASP006 Aspergillosis 66
293 IDP011 Idiopathic Interstitial Pneumonia 63
294 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 63
295 c LCL006 Localized Scleroderma 62
296 P PLM036 Pulmonary Fibrosis 61
297 P NMN002 Niemann-Pick Disease 60
298 INT066 Interstitial Lung Disease 59
299 BRN002 Bronchiolitis 59
300 c PRG043 Progressive Familial Heart Block, Type Ib 58
301 c NMN016 Niemann-Pick Disease, Type B 58
302 c PRG126 Progressive Familial Heart Block 58
303 P RHN004 Rhinitis 57
304 P PLY041 Polymyositis 57
305 RSP019 Respiratory Distress Syndrome in Premature Infants 57
306 PNM008 Pneumothorax 56
307 SLC006 Silicosis 56
308 ALL006 Allergic Asthma 56
309 P PNM006 Pneumoconiosis 55
310 GDP001 Goodpasture Syndrome 55
311 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 54
312 CCC001 Coccidioidomycosis 53
313 BRN038 Bronchial Disease 53
314 LYM004 Lymphoid Interstitial Pneumonia 53
315 STV003 Stuve-Wiedemann Syndrome 53
316 IMM102 Immunodeficiency 14 53
317 c ACH041 Achondrogenesis, Type Ii 52
318 P ACT105 Acute Mountain Sickness 52
319 P PRR016 Pierre Robin Syndrome 52
320 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 51
321 P LRY019 Laryngitis 51
322 CRY001 Cryptogenic Organizing Pneumonia 51
323 PLR008 Pleurisy 51
324 c BRG005 Brugada Syndrome 1 50
325 BRN014 Bronchopneumonia 50
326 c VRL005 Viral Pneumonia 49
327 LNG095 Lung Abscess 49
328 c INV001 Invasive Aspergillosis 48
329 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 48
330 ASP007 Aspiration Pneumonia 48
331 c MCP044 Mucopolysaccharidosis, Type Iiib 48
332 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48
333 SHR098 Short-Rib Thoracic Dysplasia 12 48
334 ANT018 Anthracosis 48
335 ASB001 Asbestosis 46
336 NSD001 Nose Disease 46
337 c BRG004 Brugada Syndrome 4 45
338 NNS002 Nonspecific Interstitial Pneumonia 45
339 ACT029 Acute Interstitial Pneumonia 44
340 P HRT035 Heart Block, Congenital 44
341 DPH021 Diaphragm Disease 43
342 c SRC023 Sarcoidosis 2 43
343 c CHR576 Chronic Beryllium Disease 42
344 ANC002 Anca-Associated Vasculitis 42
345 CRP002 Croup 42
346 c MLG079 Malignant Pleural Mesothelioma 42
347 PHH001 Phaeohyphomycosis 42
348 NSP002 Nasopharyngitis 41
349 PSR016 Psoriatic Juvenile Idiopathic Arthritis 40
350 NNT049 Nontuberculous Mycobacterial Lung Disease 40
351 P NSL008 Nasal Cavity Cancer 40
352 PNM002 Pneumonic Tularemia 40
353 FRM003 Farmer's Lung 40
354 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 40
355 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 39
356 c BRG007 Brugada Syndrome 5 39
357 LNG030 Lung Adenoma 39
358 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 39
359 c BRG003 Brugada Syndrome 3 39
360 ORN001 Ornithosis 39
361 PTT002 Potter's Syndrome 38
362 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 38
363 INS022 in Situ Pulmonary Adenocarcinoma 37
364 PNB004 Panbronchiolitis, Diffuse 37
365 ANT002 Anti-Basement Membrane Glomerulonephritis 36
366 BRD003 Bird Fancier's Lung 35
367 c BRG006 Brugada Syndrome 2 34
368 NSL006 Nasal Cavity Squamous Cell Carcinoma 34
369 BLN004 Balantidiasis 34
370 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 34
371 MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 33
372 c BRG012 Brugada Syndrome 9 33
373 SPR006 Sparganosis 32
374 BRN133 Bronchomalacia 32
375 RSP004 Respiratory System Benign Neoplasm 32
376 c BRG008 Brugada Syndrome 6 32
377 c CLR056 Ciliary Dyskinesia, Primary, 10 32
378 TRC035 Tracheal Agenesis 32
379 c TRC002 Trachea Carcinoma in Situ 31
380 LFF002 Loeffler Syndrome 31
381 RSP005 Respiratory System Cancer 31
382 LRY002 Laryngostenosis 31
383 TRC025 Tracheal Cancer 31
384 CPL004 Caplan's Syndrome 30
385 TRC001 Trachea Leiomyoma 30
386 NSL004 Nasal Cavity Lymphoma 30
387 BRT013 Baritosis 30
388 CRK001 Cork-Handlers' Disease 29
389 c CLR116 Ciliary Dyskinesia, Primary, 29 29
390 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 29
391 c CLR069 Ciliary Dyskinesia, Primary, 8 29
392 c CLR067 Ciliary Dyskinesia, Primary, 4 29
393 NSL003 Nasal Cavity Adenocarcinoma 28
394 c PLM128 Pulmonary Hypertension, Primary, 2 28
395 TRC038 Tracheobronchomegaly 27
396 c CRN111 Cranioectodermal Dysplasia 4 27
397 c VRL001 Viral Laryngitis 27
398 PLS031 Plastic Bronchitis 27
399 c CLR059 Ciliary Dyskinesia, Primary, 13 27
400 c CRN110 Cranioectodermal Dysplasia 3 27
401 c LTH047 Lethal Congenital Contracture Syndrome 3 27
402 LPD001 Lipid Pneumonia 27
403 c CLR123 Ciliary Dyskinesia, Primary, 37 26
404 ASB003 Asbestos Intoxication 26
405 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
406 c ADL080 Adult Acute Respiratory Distress Syndrome 26
407 c PRG101 Progressive Familial Heart Block, Type Ii 26
408 c CLR114 Ciliary Dyskinesia, Primary, 30 25
409 LYM001 Lymphohistiocytoid Mesothelioma 25
410 ACR020 Acropectorovertebral Dysplasia 25
411 c BRG010 Brugada Syndrome 8 25
412 c CLR125 Ciliary Dyskinesia, Primary, 33 25
413 c CLR091 Ciliary Dyskinesia, Primary, 14 25
414 PRN002 Paranasal Sinus Lymphoma 25
415 c LTH030 Lethal Congenital Contracture Syndrome 8 24
416 STR029 Sternal Cleft 24
417 HYP015 Hyperlucent Lung 24
418 c CLR098 Ciliary Dyskinesia, Primary, 27 24
419 c CLR090 Ciliary Dyskinesia, Primary, 22 24
420 FCT013 Factor V Leiden Thrombophilia 24
421 END006 Endobronchial Lipoma 24
422 c CLR105 Ciliary Dyskinesia, Primary, 20 24
423 c LTH039 Lethal Congenital Contracture Syndrome 11 24
424 PRP011 Puerperal Pulmonary Embolism 24
425 c BRG009 Brugada Syndrome 7 24
426 c ORF051 Orofaciodigital Syndrome Xvii 24
427 BRN040 Bronchus Adenoma 23
428 VNT001 Ventilation Pneumonitis 23
429 MNR004 Mounier-Kuhn Syndrome 23
430 c CNG521 Congenital Heart Defects, Multiple Types, 5 23
431 RGH006 Right Aortic Arch 23
432 c PLM044 Pulmonary Fibrosis, Familial 23
433 PLR002 Pleural Lipoma 23
434 c CNG520 Congenital Heart Defects, Multiple Types, 6 23
435 c CLR107 Ciliary Dyskinesia, Primary, 24 23
436 NSL010 Nasal Cavity Neoplasm 23
437 c LPR023 Leprosy 1 23
438 c CLR138 Ciliary Dyskinesia, Primary, 38 23
439 c LTH031 Lethal Congenital Contracture Syndrome 6 22
440 c CLR126 Ciliary Dyskinesia, Primary, 35 22
441 c CLR088 Ciliary Dyskinesia, Primary, 21 22
442 LRY028 Laryngocele 22
443 ETH001 Ethmoid Sinus Adenocarcinoma 22
444 c TTR029 Tetraamelia Syndrome 2 21
445 MLT013 Malt Worker's Lung 21
446 c CNG511 Congenital Heart Defects, Multiple Types, 2 21
447 c CLR054 Ciliary Dyskinesia, Primary, 12 21
448 ALV003 Alveoli Adenoma 21
449 c PNM004 Pneumoconiosis Due to Talc 21
450 CRT060 Cor Triatriatum Sinister 21
451 UNL013 Unilateral Absence of a Pulmonary Artery 21
452 c CNG404 Congenital Heart Defects, Multiple Types, 4 20
453 c INF136 Influenza, Severe 19
454 FRN004 Frontal Sinus Inverted Papilloma 19
455 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
456 c DPH025 Diaphragmatic Hernia 2 18
457 FRN010 Frontal Sinus Neoplasm 18
458 c CLR143 Ciliary Dyskinesia, Primary, 43 18
459 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 18
460 PRM133 Primary Pulmonary Lymphoma 18
461 SWY003 Swyer-James Syndrome 18
462 DYS135 Dysphagia Lusoria 18
463 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 17
464 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
465 KMM002 Kommerell Diverticulum 16
466 CRV066 Cervical Aortic Arch 16
467 ALM003 Aluminosis 16
468 c CNG385 Congenital Heart Defects, Multiple Types, 3 16
469 THR122 Thoracic Malformation 14
470 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 13
471 HNR001 Heiner Syndrome 13
472 MNB001 Main Bronchus Cancer 13
473 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 13
474 TRC019 Trachea Sarcoma 12
475 c BNG019 Benign Intermediate Mesothelioma 12
476 PRN003 Paranasal Sinus Sarcoma 11
477 MXL007 Maxillary Sinus Cholesteatoma 10
478 MSH001 Mushroom Workers' Lung 10
479 c RRD018 Rare Disease with Pierre Robin Syndrome 10
480 c SCN047 Secondary Pulmonary Hemosiderosis 10
481 ETH006 Ethmoid Sinus Inverted Papilloma 9
482 CNG564 Congenital Respiratory-Biliary Fistula 9
483 TRN052 Transient Hyperammonemia of the Newborn 8
484 GLT003 Glottis Verrucous Carcinoma 8
485 c LRY051 Laryngotracheoesophageal Cleft Type 1 8
486 SPH008 Sphenoidal Sinus Cancer 7
487 NSL001 Nasal Cavity Inverting Papilloma 7
488 SBG003 Subglottis Verrucous Carcinoma 7
489 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
490 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
491 PNM022 Pneumonia Caused by Pseudomonas Aeruginosa Infection 7
492 EPT004 Epithelial Predominant Pulmonary Blastoma 6
493 FRN001 Frontal Sinus Schneiderian Papilloma 6
494 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
495 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
496 HSL001 House Allergic Alveolitis 4
497 MRP005 Meropenem Allergy 4
498 MTH085 Methyl Isocyanate Allergic Asthma 4
499 TRM027 Trimellitic Anhydride Allergic Asthma 4
500 MLC007 Maleic Anhydride Allergic Asthma 4
501 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
502 CBL010 Cobalt Allergic Asthma 4
503 NRL003 Neurilemmoma of the Pleura 4
504 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
505 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
506 PLM192 Pulmonary Hypertension with Unclear Multifactorial Mechanism 4
507 ENC035 Encircling Double Aortic Arch 4
508 PHT014 Phthalic Anhydride Allergic Asthma 3
509 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
510 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
511 RRB010 Rare Bronchopulmonary Tumor 3
512 SYN108 Syndrome with Pulmonary Hypertension As a Major Feature 2
513 P RTT002 Rett Syndrome 80
514 c SPN225 Spondyloarthropathy 1 73
515 BRT054 Brittle Bone Disorder 70
516 MLD001 Melioidosis 67
517 P SPN052 Spondyloarthropathy 54
518 CHP002 Chops Syndrome 42
519 c RTT008 Rett Syndrome, Congenital Variant 29
520 c JVN047 Juvenile Spondyloarthropathy 24
521 c SPN226 Spondyloarthropathy 2 16
522 c SPN256 Spondyloarthropathy 3 14
523 P LNG032 Lung Cancer 97
524 P LNG064 Lung Cancer Susceptibility 3 77
525 AST005 Asthma 77
526 c ART115 Aortic Valve Disease 1 75
527 PLM001 Pulmonary Tuberculosis 70
528 P SYS005 Systemic Scleroderma 69
529 P CRD119 Cardiac Arrest 67
530 c JVN010 Juvenile Rheumatoid Arthritis 67
531 c FML001 Familial Atrial Fibrillation 66
532 c HRD010 Hereditary Spastic Paraplegia 66
533 WLF001 Wolff-Parkinson-White Syndrome 65
534 c MCP001 Mucopolysaccharidosis Iii 65
535 GRN037 Granulomatosis with Polyangiitis 64
536 c ART101 Aortic Valve Disease 2 63
537 ALP103 Alpha-1-Antitrypsin Deficiency 63
538 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
539 c ORF037 Orofaciodigital Syndrome I 61
540 LNG099 Lung Disease 61
541 CHL028 Childhood Type Dermatomyositis 60
542 P SLP005 Sleep Disorder 59
543 P BRN022 Bronchiectasis 59
544 PLM033 Pulmonary Embolism 59
545 c CLR131 Ciliary Dyskinesia, Primary, 1 58
546 P END033 Endocarditis 57
547 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
548 BRN056 Bronchopulmonary Dysplasia 57
549 TNS005 Tonsillitis 57
550 PHR003 Pharyngitis 56
551 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
552 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 56
553 P MYS005 Myositis 56
554 BRN012 Bronchiolitis Obliterans 56
555 NRN004 Neuroendocrine Tumor 55
556 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
557 P DXT004 Dextro-Looped Transposition of the Great Arteries 54
558 BRN015 Bronchiolo-Alveolar Adenocarcinoma 54
559 P ACH011 Achondrogenesis 53
560 PLM012 Pulmonary Sarcoidosis 53
561 P ART018 Aortic Valve Insufficiency 53
562 P ALL008 Allergic Bronchopulmonary Aspergillosis 53
563 P PLM006 Pulmonary Alveolar Proteinosis 52
564 LNG017 Lung Giant Cell Carcinoma 52
565 c PNT034 Pontocerebellar Hypoplasia, Type 2e 52
566 MLL018 Miller-Dieker Lissencephaly Syndrome 52
567 MYP136 Myopathy, Centronuclear, X-Linked 51
568 LNG031 Lung Benign Neoplasm 50
569 PNM005 Pneumonic Plague 50
570 c ORF040 Orofaciodigital Syndrome Viii 50
571 P ESN008 Eosinophilic Pneumonia 50
572 FDL002 Food Allergy 49
573 PLR007 Pleural Empyema 49
574 c MCP047 Mucopolysaccharidosis, Type Iva 49
575 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 48
576 P MRC003 Mercury Poisoning 48
577 c PNT049 Pontocerebellar Hypoplasia, Type 2d 48
578 ADN089 Adenosquamous Lung Carcinoma 48
579 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
580 c ACH042 Achondrogenesis, Type Ib 47
581 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 47
582 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
583 P PNT019 Pontocerebellar Hypoplasia 46
584 PLM032 Pulmonary Blastoma 46
585 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46
586 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 46
587 EXT033 Extrapulmonary Tuberculosis 46
588 ACT055 Actinomycosis 45
589 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 45
590 CHR466 Chronic Thromboembolic Pulmonary Hypertension 45
591 P BNG032 Benign Mesothelioma 45
592 LYM051 Lymphomatoid Granulomatosis 45
593 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 45
594 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
595 c ACH033 Achondrogenesis, Type Ia 44
596 TRC097 Tracheomalacia 44
597 HRT015 Heritable Pulmonary Arterial Hypertension 44
598 LRG014 Large Cell Neuroendocrine Carcinoma 44
599 c PNT036 Pontocerebellar Hypoplasia, Type 6 44
600 c PNT030 Pontocerebellar Hypoplasia, Type 8 44
601 PLL008 Pallister-Killian Syndrome 44
602 P SDR002 Siderosis 44
603 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
604 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
605 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 43
606 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 43
607 c PNT018 Pontocerebellar Hypoplasia, Type 1b 43
608 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 42
609 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 42
610 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
611 P LTH003 Lethal Congenital Contracture Syndrome 42
612 MYC013 Mycobacterium Abscessus 42
613 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 42
614 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 42
615 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 42
616 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
617 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
618 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
619 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 41
620 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
621 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
622 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
623 P PRN020 Paranasal Sinus Cancer 41
624 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
625 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 41
626 P SCL057 Scoliosis, Isolated 1 41
627 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
628 c PNT045 Pontocerebellar Hypoplasia, Type 1a 40
629 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 40
630 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 40
631 INH001 Inhalation Anthrax 40
632 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
633 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 40
634 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
635 MTT002 Metatropic Dysplasia 40
636 c PNT039 Pontocerebellar Hypoplasia, Type 7 40
637 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 40
638 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 39
639 CNG134 Congenitally Corrected Transposition of the Great Arteries 39
640 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
641 c PNT037 Pontocerebellar Hypoplasia, Type 3 39
642 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
643 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 38
644 c PNT010 Pontocerebellar Hypoplasia Type 1 38
645 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38
646 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 38
647 c ATL015 Atelosteogenesis, Type Ii 38
648 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
649 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
650 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 37
651 c JBR026 Joubert Syndrome 15 37
652 c LPR022 Leprosy 2 37
653 c ATL011 Atelosteogenesis, Type I 37
654 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 36
655 P ATL001 Atelosteogenesis 36
656 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 36
657 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
658 c CLR135 Ciliary Dyskinesia, Primary, 7 35
659 LNG091 Lung Mucoepidermoid Carcinoma 35
660 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 35
661 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 35
662 ABD010 Abdominal Wall Defect 35
663 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
664 PLM028 Pulmonary Coin Lesion 35
665 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
666 MXL006 Maxillary Sinus Adenocarcinoma 34
667 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 34
668 c TYP024 Type Ii Mixed Cryoglobulinemia 34
669 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 34
670 c PST106 Post-Cardiac Arrest Syndrome 34
671 c SPS021 Spastic Paraplegia 10 33
672 c ATL012 Atelosteogenesis, Type Iii 33
673 c CLR066 Ciliary Dyskinesia, Primary, 2 33
674 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 33
675 MXL004 Maxillary Sinus Squamous Cell Carcinoma 33
676 c SBC003 Subacute Bacterial Endocarditis 33
677 c PLM127 Pulmonary Hypertension, Primary, 3 33
678 c FTL070 Fetal Akinesia Deformation Sequence 2 33
679 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
680 EPT003 Epithelioid Trophoblastic Tumor 32
681 P PLM182 Pulmonary Hypoplasia, Primary 32
682 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 32
683 c SPS013 Spastic Paraplegia 8 32
684 LNG037 Lung Sarcoma 31
685 PRT045 Prothrombin-Related Thrombophilia 31
686 CLF051 Cleft Larynx, Posterior 31
687 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 31
688 c SPS036 Spastic Paraplegia 3 31
689 BRN137 Bronchial Neuroendocrine Tumor 31
690 MXL008 Maxillary Sinus Cancer 31
691 c LNG001 Lung Clear Cell Carcinoma 31
692 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
693 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 30
694 TRC014 Trachea Adenoid Cystic Carcinoma 30
695 SPR031 Sprengel Deformity 30
696 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 30
697 P TRC024 Trachea Carcinoma 30
698 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 30
699 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
700 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 30
701 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
702 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
703 c SPS025 Spastic Paraplegia 15 30
704 TRC115 Tracheopathia Osteoplastica 30
705 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 30
706 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 30
707 MCP039 Mucoepithelial Dysplasia, Hereditary 30
708 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 29
709 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 29
710 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 29
711 c SPS091 Spastic Paraplegia 4 29
712 NSL005 Nasal Cavity Olfactory Neuroblastoma 29
713 c PNT033 Pontocerebellar Hypoplasia, Type 10 29
714 MGL033 Megalocornea-Mental Retardation Syndrome 29
715 HLR002 Hilar Lung Carcinoma 29
716 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 29
717 PTL001 Patulous Eustachian Tube 28
718 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
719 c SPS039 Spastic Paraplegia 5a 28
720 BRN039 Bronchial Neoplasm 28
721 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 28
722 CPL001 Capillariasis 28
723 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
724 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
725 BRN055 Bronchogenic Cyst 27
726 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
727 P BNG022 Benign Pleural Mesothelioma 27
728 c MCR212 Microphthalmia, Syndromic 12 27
729 EPG001 Epiglottis Neoplasm 27
730 GLT004 Glottis Squamous Cell Carcinoma 27
731 YNG002 Young Syndrome 27
732 CHL079 Children's Interstitial Lung Disease 27
733 P SPS012 Spastic Paraplegia 3a 26
734 TRC018 Tracheal Lymphoma 26
735 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
736 c HRD186 Hereditary Spastic Paraplegia 51 26
737 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
738 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 26
739 c CLR104 Ciliary Dyskinesia, Primary, 15 26
740 FBR028 Fibrosing Mediastinitis 26
741 c CLR053 Ciliary Dyskinesia, Primary, 11 26
742 SCH010 Schneiderian Carcinoma 26
743 P TTR028 Tetraamelia Syndrome 1 26
744 c CLR097 Ciliary Dyskinesia, Primary, 23 25
745 c SPS092 Spastic Paraplegia 11 25
746 c SPS041 Spastic Paraplegia 6 25
747 EPG002 Epiglottis Cancer 25
748 c SPS027 Spastic Paraplegia 17 25
749 c ORF046 Orofaciodigital Syndrome Xvi 25
750 LNG036 Lung Leiomyoma 25
751 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 25
752 c CLR117 Ciliary Dyskinesia, Primary, 32 24
753 HMN012 Hemangioma of Lung 24
754 c CLR106 Ciliary Dyskinesia, Primary, 26 24
755 PLM015 Pulmonary Systemic Sclerosis 24
756 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 24
757 c CLR099 Ciliary Dyskinesia, Primary, 16 24
758 TMP008 Tempi Syndrome 24
759 c FTL071 Fetal Akinesia Deformation Sequence 3 24
760 c HRD188 Hereditary Spastic Paraplegia 72 24
761 c LTH029 Lethal Congenital Contracture Syndrome 9 24
762 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
763 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
764 c CLR101 Ciliary Dyskinesia, Primary, 25 23
765 INF043 Infantile Apnea 22
766 SPR023 Supraglottis Squamous Cell Carcinoma 22
767 c SPS042 Spastic Paraplegia 9 22
768 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 22
769 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
770 c ORF045 Orofaciodigital Syndrome Xv 22
771 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
772 c HRD210 Hereditary Spastic Paraplegia 23 21
773 SLD013 Solid Adenocarcinoma with Mucin Production 21
774 c SPS038 Spastic Paraplegia 39 21
775 c CLR124 Ciliary Dyskinesia, Primary, 34 21
776 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 21
777 c SPS023 Spastic Paraplegia 13 20
778 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 20
779 LNG034 Lung Hilum Cancer 20
780 c ART159 Aortic Valve Disease 3 20
781 WTB001 Wet Beriberi 20
782 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 20
783 c PNT053 Pontocerebellar Hypoplasia, Type 13 19
784 c SPS022 Spastic Paraplegia 12 19
785 PLM002 Pulmonary Plasma Cell Granuloma 19
786 c SPS028 Spastic Paraplegia 18 19
787 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 19
788 c SPS034 Spastic Paraplegia 26 18
789 SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 18
790 c SCL049 Scoliosis, Isolated 3 18
791 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 18
792 SPR022 Supraglottis Neoplasm 18
793 ETH008 Ethmoid Sinus Cancer 17
794 c VRL025 Viral Myositis 17
795 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 17
796 c SPS032 Spastic Paraplegia 24 17
797 CNG243 Congenital Subglottic Stenosis 16
798 SBG001 Subglottis Neoplasm 16
799 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 15
800 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
801 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 15
802 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
803 c SPS029 Spastic Paraplegia 19 15
804 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 15
805 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 15
806 FRN005 Frontal Sinus Squamous Cell Carcinoma 15
807 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 15
808 c SPS035 Spastic Paraplegia 29 15
809 c BCT018 Bacterial Myositis 15
810 c SPS024 Spastic Paraplegia 14 15
811 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 14
812 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
813 RRP031 Rare Pulmonary Disease 14
814 c SPS161 Spastic Paraplegia 32 14
815 PRS111 Persistent Fifth Aortic Arch 14
816 MXL009 Maxillary Sinus Neoplasm 14
817 c SPS033 Spastic Paraplegia 25 13
818 c SPS165 Spastic Paraplegia 47 13
819 SBG002 Subglottic Angioma 13
820 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
821 TRC017 Trachea Squamous Cell Carcinoma 13
822 LRY020 Larynx Sarcoma 13
823 CST006 Costocoracoid Ligament, Congenitally Short 13
824 c SPS026 Spastic Paraplegia 16 13
825 SMR006 Smarca4-Deficient Sarcoma of Thorax 12
826 c INF119 Infantile Mercury Poisoning 12
827 c SCL058 Scoliosis, Isolated 2 12
828 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
829 MPL002 Maple Bark Strippers' Lung 12
830 ACT227 Acute Respiratory Coronavirus Infection 12
831 c SPS230 Spastic Paraplegia Type 49 12
832 c LNG086 Lung Cancer Susceptibility 5 12
833 LRY001 Larynx Leiomyoma 11
834 c SCL059 Scoliosis, Isolated 4 11
835 c SCL060 Scoliosis, Isolated 5 11
836 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 11
837 c RRS011 Rare Sleep Disorder 11
838 SBG004 Subglottis Squamous Cell Carcinoma 11
839 PLM190 Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia 11
840 c LRY009 Larynx Carcinoma in Situ 11
841 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
842 LNG110 Lung Mucinous Cystadenocarcinoma 10
843 c CNG398 Congenital Pulmonary Airway Malformation Type 1 10
844 GLT001 Glottis Neoplasm 10
845 c CNG257 Congenital Pulmonary Sequestration 10
846 c PLR018 Pleuropulmonary Blastoma Type 1 9
847 c CNG406 Congenital Pulmonary Airway Malformation Type 0 9
848 c NSL007 Nasal Cavity Carcinoma in Situ 9
849 P HRN027 Hernia, Anterior Diaphragmatic 9
850 LRY008 Larynx Liposarcoma 9
851 c SPS040 Spastic Paraplegia 5b 9
852 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 9
853 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 8
854 P INT354 Interstitial Lung Disease Specific to Childhood 8
855 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 8
856 SPR015 Supraglottis Verrucous Carcinoma 8
857 SPH009 Sphenoidal Sinus Neoplasm 8
858 PLM023 Pulmonary Artery Choriocarcinoma 7
859 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
860 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
861 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
862 c SDR001 Siderosis of Eye 7
863 ETH010 Ethmoidal Sinus Neoplasm 7
864 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
865 BRN010 Bronchial Mucus Gland Adenoma 6
866 STP010 Staphylococcal Necrotizing Pneumonia 6
867 TRC090 Trachea Mucoepidermoid Carcinoma 6
868 INT351 Interstitial Lung Disease Specific to Infancy 6
869 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
870 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
871 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
872 P INT352 Interstitial Lung Disease Specific to Adulthood 5
873 EXT047 Extralobar Congenital Pulmonary Sequestration 5
874 c BRN001 Bronchus Carcinoma in Situ 5
875 LRY006 Larynx Squamous Papilloma 5
876 LNG010 Lung Clear Cell-Sugar-Tumor 5
877 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 5
878 EXP006 Exposure-Related Interstitial Lung Disease 5
879 LNG090 Lung Combined Type Small Cell Adenocarcinoma 4
880 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
881 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
882 ISC018 Isocyanates Allergic Asthma 4
883 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
884 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 4
885 NCK003 Nickel Allergic Asthma 4
886 SCN072 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease 4
887 SCN073 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease 4
888 SCN074 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease 4
889 SCN076 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease 4
890 c PRM307 Primary Interstitial Lung Disease Specific to Adulthood 4
891 SCN078 Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease 4
892 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
893 RSP021 Respiratory Allergy 45
894 c AMY091 Amyotrophic Lateral Sclerosis 1 89
895 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 47
896 c AMY090 Amyotrophic Lateral Sclerosis 8 42
897 c AMY069 Amyotrophic Lateral Sclerosis 21 39
898 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 39
899 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
900 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 37
901 c AMY055 Amyotrophic Lateral Sclerosis 17 36
902 c AMY083 Amyotrophic Lateral Sclerosis 11 36
903 c AMY088 Amyotrophic Lateral Sclerosis 3 35
904 c AMY062 Amyotrophic Lateral Sclerosis 12 35
905 c AMY085 Amyotrophic Lateral Sclerosis 9 34
906 c AMY059 Amyotrophic Lateral Sclerosis 19 34
907 c AMY067 Amyotrophic Lateral Sclerosis 18 33
908 c AMY022 Amyotrophic Lateral Sclerosis Type 5 32
909 c AMY063 Amyotrophic Lateral Sclerosis 20 32
910 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
911 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 29
912 c AMY089 Amyotrophic Lateral Sclerosis 7 27
913 c AMY079 Amyotrophic Lateral Sclerosis Type 15 25
914 c AMY110 Amyotrophic Lateral Sclerosis 24 22
915 c AMY074 Amyotrophic Lateral Sclerosis Type 14 21
916 c AMY108 Amyotrophic Lateral Sclerosis 23 21
917 c AMY112 Amyotrophic Lateral Sclerosis 25 21
918 c AMY109 Amyotrophic Lateral Sclerosis Type 22 16
919 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
920 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 67
921 P HYP061 Hypertrophic Cardiomyopathy 66
922 BTN003 Biotinidase Deficiency 60
923 LMB002 Lambert-Eaton Myasthenic Syndrome 54
924 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 48
925 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 46
926 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 45
927 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 42
928 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 40
929 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 40
930 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 36
931 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 34
932 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 34
933 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 33
934 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 31
935 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 29
936 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 28
937 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 27
938 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 27
939 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 27
940 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 26
941 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 26
942 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 25
943 c CRD219 Cardiomyopathy, Infantile Hypertrophic 25
944 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 24
945 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
946 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
947 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 5
948 P TTR001 Tetralogy of Fallot 69
949 ALL003 Allergic Rhinitis 67
950 P LPR021 Leprosy 3 67
951 c SML038 Small Cell Cancer of the Lung 65
952 LNG039 Lung Squamous Cell Carcinoma 65
953 P MCP040 Mucopolysaccharidosis-Plus Syndrome 64
954 P SPN046 Spinal Muscular Atrophy 64
955 P HYP055 Hypoplastic Left Heart Syndrome 62
956 HSH003 Hashimoto Thyroiditis 62
957 P HYP097 Hyperekplexia 61
958 PNM010 Pneumothorax, Primary Spontaneous 60
959 TMR010 Tumor Predisposition Syndrome 58
960 EXT034 Extrinsic Allergic Alveolitis 58
961 IRN002 Iron Metabolism Disease 57
962 GRN051 Granulomatous Disease, Chronic, X-Linked 56
963 CMM005 Common Cold 56
964 P LRY044 Larynx Cancer 54
965 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
966 c SPN393 Spinal Muscular Atrophy, Type I 53
967 MCN007 Meconium Aspiration Syndrome 52
968 c SPN394 Spinal Muscular Atrophy, Type Iii 52
969 MLT134 Multiple Pterygium Syndrome, Lethal Type 50
970 CHN065 Choanal Atresia, Posterior 50
971 c HYP699 Hyperekplexia 1 50
972 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 49
973 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 48
974 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 48
975 HNT002 Hantavirus Pulmonary Syndrome 47
976 c SPN395 Spinal Muscular Atrophy, Type Ii 46
977 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 46
978 c JBR015 Joubert Syndrome 6 45
979 INT304 Interstitial Pneumonitis, Desquamative, Familial 45
980 c MCR261 Microphthalmia, Syndromic 2 45
981 LRY029 Laryngomalacia 45
982 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 45
983 NCT003 N-Acetylglutamate Synthase Deficiency 44
984 P BRB001 Beriberi 44
985 ANT039 Antisynthetase Syndrome 44
986 LRY018 Laryngeal Squamous Cell Carcinoma 44
987 LNG020 Lung Oat Cell Carcinoma 43
988 P BRN120 Bronchus Cancer 42
989 c SPN398 Spinal Muscular Atrophy, Type Iv 42
990 c CLR136 Ciliary Dyskinesia, Primary, 9 41
991 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 41
992 SCR015 Scarlet Fever 40
993 c HYP543 Hypoplastic Left Heart Syndrome 1 40
994 P BRY005 Beryllium Disease 40
995 PLM068 Pulmonary Vein Stenosis 40
996 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 40
997 TRC026 Tracheal Disease 39
998 CPM001 Cap Myopathy 38
999 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37
1000 c HYP510 Hyperekplexia 2 37
1001 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 37
1002 c CLR134 Ciliary Dyskinesia, Primary, 3 36
1003 NRS005 Neurosarcoidosis 36
1004 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 35
1005 LNG013 Lung Lymphoma 35
1006 INT271 Interstitial Lung and Liver Disease 35
1007 c HYP519 Hyperekplexia 3 35
1008 LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 34
1009 LNG019 Lung Combined Type Small Cell Carcinoma 34
1010 CYS021 Cystic Adenomatoid Malformation of Lung 33
1011 ASB002 Asbestos-Related Lung Carcinoma 32
1012 LNG011 Lung Adenoid Cystic Carcinoma 32
1013 c CLR095 Ciliary Dyskinesia, Primary, 19 32
1014 LNG022 Lung Acinar Adenocarcinoma 31
1015 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 31
1016 MCN023 Mucinous Lung Adenocarcinoma 31
1017 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 31
1018 LRY015 Laryngeal Benign Neoplasm 30
1019 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 30
1020 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 29
1021 LYM122 Lymphangiectasia, Pulmonary, Congenital 29
1022 LRY011 Larynx Verrucous Carcinoma 29
1023 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 28
1024 PRN032 Paraneoplastic Cerebellar Degeneration 28
1025 HYL005 Hyaline Body Myopathy 28
1026 c PLM121 Pulmonary Hypertension, Primary, 4 28
1027 THR032 Thoracolaryngopelvic Dysplasia 27
1028 SPR021 Supraglottis Cancer 27
1029 LNG009 Lung Meningioma 27
1030 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
1031 c PTN012 Patent Ductus Arteriosus 3 25
1032 c CLR068 Ciliary Dyskinesia, Primary, 5 24
1033 c LTH027 Lethal Congenital Contracture Syndrome 5 24
1034 c HYP825 Hyperekplexia 4 24
1035 LRY005 Laryngeal Small Cell Carcinoma 23
1036 c MCR228 Microphthalmia, Syndromic 13 23
1037 LNG012 Lung Occult Squamous Cell Carcinoma 23
1038 c FTL072 Fetal Akinesia Deformation Sequence 4 23
1039 LNG016 Lung Papillary Adenocarcinoma 22
1040 P PLM064 Pulmonary Sequestration 22
1041 c LTH042 Lethal Congenital Contracture Syndrome 10 22
1042 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 22
1043 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 22
1044 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1045 P SNS011 Sinus Cancer 21
1046 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 21
1047 BSL003 Basaloid Lung Carcinoma 21
1048 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
1049 P LNG021 Lung Occult Small Cell Carcinoma 20
1050 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 20
1051 c NSP015 Nasopharyngeal Carcinoma 3 20
1052 SGN005 Signet Ring Lung Adenocarcinoma 19
1053 LRY010 Laryngeal Adenoid Cystic Carcinoma 18
1054 c DRY002 Dry Beriberi 18
1055 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1056 THR033 Thoracomelic Dysplasia 17
1057 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
1058 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
1059 LNG014 Lung Superior Sulcus Carcinoma 15
1060 FTL048 Fetal Lung Interstitial Tumor 14
1061 c LNG006 Lung Occult Large Cell Carcinoma 14
1062 P LRY049 Laryngotracheoesophageal Cleft Type 4 13
1063 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1064 c FRN009 Frontal Sinus Cancer 13
1065 P CNG396 Congenital Pulmonary Airway Malformation Type 2 13
1066 c SPR097 Sporadic Hyperekplexia 12
1067 LNG005 Lung Occult Adenocarcinoma 12
1068 c CNG397 Congenital Pulmonary Airway Malformation Type 3 11
1069 c CNG405 Congenital Pulmonary Airway Malformation Type 4 8
1070 c PLR020 Pleuropulmonary Blastoma Type 3 8
1071 HLR001 Hilar Lung Neoplasm 8
1072 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
1073 LRY012 Laryngeal Cartilage Cancer 7
1074 c RRP017 Rare Pulmonary Hypertension 6
1075 OCC014 Occupational Allergic Alveolitis 6
1076 RRR009 Rare Respiratory Tumor 5
1077 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
1078 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
1079 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
1080 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
1081 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
1082 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
1083 c PRN030 Paranasal Sinus Cancer, Adult 4
1084 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1085 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
1086 LGN002 Legionellosis 61
1087 c SVR001 Severe Acute Respiratory Syndrome 55
1088 LNG023 Lung Leiomyosarcoma 26
1089 c PLM164 Pulmonary Hypertension, Primary, 1 75
1090 P HYP724 Hyperlipoproteinemia, Type Iii 72
1091 CNT097 Central Hypoventilation Syndrome, Congenital 70
1092 c GLY008 Glycogen Storage Disease Ii 70
1093 P PLM037 Pulmonary Hypertension 68
1094 c NMN015 Niemann-Pick Disease, Type C1 68
1095 P INF038 Influenza 68
1096 FBR011 Fibrodysplasia Ossificans Progressiva 66
1097 BLS001 Blau Syndrome 64
1098 P ADL010 Adult Respiratory Distress Syndrome 63
1099 P THN009 Thanatophoric Dysplasia, Type I 62
1100 TKY002 Takayasu Arteritis 61
1101 c GLY060 Glycogen Storage Disease Ia 61
1102 c GLY004 Glycogen Storage Disease V 61
1103 P GLY013 Glycogen Storage Disease 59
1104 c GLY003 Glycogen Storage Disease Iii 58
1105 P CNT004 Centronuclear Myopathy 58
1106 P DST002 Distal Arthrogryposis 58
1107 c GLY007 Glycogen Storage Disease Iv 58
1108 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 57
1109 P FTL069 Fetal Akinesia Deformation Sequence 1 56
1110 ALP077 Alpha-Methylacetoacetic Aciduria 56
1111 c GLY011 Glycogen Storage Disease Vii 55
1112 c MCP043 Mucopolysaccharidosis, Type Iiia 54
1113 P FML068 Familial Hypocalciuric Hypercalcemia 54
1114 c HYP740 Hyperlipoproteinemia, Type V 54
1115 CNG046 Congenital Fiber-Type Disproportion 54
1116 P LNG035 Lung Large Cell Carcinoma 54
1117 c ART144 Arthrogryposis, Distal, Type 1a 54
1118 c LSS005 Lissencephaly 1 53
1119 c HYP768 Hyperlipoproteinemia, Type I 52
1120 c LSS006 Lissencephaly 2 52
1121 BTY001 Butyrylcholinesterase Deficiency 52
1122 c GLY005 Glycogen Storage Disease Vi 51
1123 P OPT048 Opitz-Gbbb Syndrome 51
1124 STR008 Strongyloidiasis 51
1125 c HYP739 Hyperlipoproteinemia, Type Iv 51
1126 P LSS002 Lissencephaly 51
1127 c GCH016 Gaucher Disease, Type Ii 50
1128 ALV002 Alveolar Echinococcosis 50
1129 c ART061 Arthrogryposis, Distal, Type 2a 49
1130 c ART120 Arthrogryposis, Distal, Type 3 49
1131 c ART155 Arthrogryposis, Distal, Type 2b1 48
1132 c OPT050 Opitz Gbbb Syndrome, Type Ii 47
1133 LMT001 Limited Scleroderma 47
1134 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 47
1135 c MYP123 Myopathy, Centronuclear, 1 47
1136 PDT035 Pediatric Systemic Lupus Erythematosus 46
1137 c OPT051 Opitz Gbbb Syndrome, Type I 46
1138 c GLY098 Glycogen Storage Disease, Type Ixd 45
1139 c THN010 Thanatophoric Dysplasia, Type Ii 45
1140 TBR006 Tuberculoid Leprosy 45
1141 LTH001 Lethal Midline Granuloma 43
1142 c MYP131 Myopathy, Centronuclear, 2 43
1143 P PLM085 Pulmonary Hemosiderosis 43
1144 c ART119 Arthrogryposis, Distal, Type 5 43
1145 P PLM025 Pulmonary Venoocclusive Disease 42
1146 YLL001 Yellow Nail Syndrome 42
1147 BP1002 Bap1 Tumor Predisposition Syndrome 41
1148 c GLY097 Glycogen Storage Disease Ixb 41
1149 c GLY016 Glycogen Storage Disease Ib 40
1150 c GLY009 Glycogen Storage Disease Xv 39
1151 P SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 38
1152 c ART147 Arthrogryposis, Distal, Type 7 38
1153 c GLY044 Glycogen Storage Disease Ixc 37
1154 CTN013 Cutaneous Anthrax 37
1155 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 36
1156 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 34
1157 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
1158 c GLY057 Glycogen Storage Disease X 34
1159 c LSS010 Lissencephaly 4 33
1160 c ART104 Arthrogryposis, Distal, Type 5d 33
1161 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 32
1162 c GLY043 Glycogen Storage Disease Xii 31
1163 PLM039 Pulmonary Neuroendocrine Tumor 31
1164 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 31
1165 c GLY017 Glycogen Storage Disease Ic 31
1166 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 30
1167 c LSS009 Lissencephaly 3 28
1168 IND004 Indeterminate Leprosy 28
1169 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 27
1170 c ART112 Arthrogryposis, Distal, Type 10 27
1171 KPS005 Kaposiform Lymphangiomatosis 27
1172 c GLY023 Glycogen Storage Disease Type 0 27
1173 c LSS025 Lissencephaly 5 26
1174 c GLY093 Glycogen Storage Disease Ixa 26
1175 c LNG109 Lung Cancer Susceptibility 1 26
1176 c ART157 Arthrogryposis, Distal, Type 2b3 26
1177 c ART156 Arthrogryposis, Distal, Type 2b2 26
1178 c LNG003 Lung Carcinoma in Situ 26
1179 c MYP098 Myopathy, Centronuclear, 4 25
1180 c GLY059 Glycogen Storage Disease Xiii 25
1181 c GLY001 Glycogen Storage Disease Ix 24
1182 c MYP148 Myopathy, Centronuclear, 5 24
1183 c LSS035 Lissencephaly 8 24
1184 c HYP819 Hyperlipoproteinemia, Type Id 24
1185 c ART060 Arthrogryposis, Distal, Type 1b 24
1186 c LTH032 Lethal Congenital Contracture Syndrome 7 24
1187 c ART131 Arthrogryposis, Distal, Type 4 24
1188 c ART128 Arthrogryposis, Distal, Type 6 23
1189 c GLY006 Glycogen Storage Disease Viii 23
1190 c NSP009 Nasopharyngeal Carcinoma 2 23
1191 c LTH026 Lethal Congenital Contracture Syndrome 4 21
1192 HYP692 Hypersensitivity Pneumonitis, Familial 21
1193 HYD053 Hydrocephalus with Associated Malformations 20
1194 c LPR017 Leprosy 5 20
1195 c JVN046 Juvenile Polymyositis 19
1196 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 17
1197 c LPR020 Leprosy 6 17
1198 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1199 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16
1200 c ART054 Arthrogryposis, Distal, Type 2e 16
1201 LRY003 Laryngeal Mucoepidermoid Carcinoma 12
1202 c LNG065 Lung Cancer Susceptibility 4 10
1203 SGL001 Siegler Brewer Carey Syndrome 10
1204 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
1205 PRT037 Pertussis 65
1206 P RSP003 Respiratory Failure 74
1207 P FML018 Familial Mediterranean Fever 72
1208 c MCP050 Mucopolysaccharidosis, Type Ii 71
1209 LYM007 Lymphangioleiomyomatosis 68
1210 ELL001 Ellis-Van Creveld Syndrome 62
1211 P MCR256 Microphthalmia, Syndromic 9 61
1212 GLY010 Glycine Encephalopathy 60
1213 CHR001 Churg-Strauss Syndrome 60
1214 c MCP004 Mucopolysaccharidosis Iv 58
1215 c MST023 Mesothelioma, Malignant 57
1216 CHR101 Char Syndrome 56
1217 PNM001 Pneumocystosis 54
1218 MCR088 Microscopic Polyangiitis 51
1219 c LTH007 Lethal Congenital Contracture Syndrome 1 51
1220 LPR001 Lepromatous Leprosy 50
1221 INP001 Inappropriate Adh Syndrome 49
1222 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
1223 LRY022 Laryngoonychocutaneous Syndrome 44
1224 c MCR241 Microphthalmia, Syndromic 3 42
1225 c MCR263 Microphthalmia, Syndromic 1 41
1226 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 39
1227 c CHR630 Chorea, Benign Hereditary 38
1228 c MCR312 Microphthalmia, Syndromic 10 34
1229 c MCR245 Microphthalmia, Syndromic 8 34
1230 c MCR251 Microphthalmia, Syndromic 6 33
1231 c GCH013 Gaucher Disease, Type Iiic 33
1232 c MCR252 Microphthalmia, Syndromic 5 32
1233 c ORF041 Orofaciodigital Syndrome X 26
1234 NCR015 Necrotizing Autoimmune Myopathy 26
1235 c MCR262 Microphthalmia, Syndromic 4 25
1236 c FML344 Familial Mediterranean Fever, Autosomal Dominant 25
1237 c ORF042 Orofaciodigital Syndrome Xi 25
1238 c ORF052 Orofaciodigital Syndrome Xviii 24
1239 c DPH016 Diaphragmatic Hernia 3 23
1240 c SRC024 Sarcoidosis 3 20
1241 c LPR016 Leprosy 4 17
1242 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1243 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1244 P CHR636 Chorea, Benign Familial 13
1245 c PSD023 Pseudo-Gaucher Disease 10
1246 PLG002 Plague 57
1247 MCR141 Mucormycosis 51
1248 c DLT002 Dilated Cardiomyopathy 79
1249 PLM134 Pulmonary Fibrosis, Idiopathic 75
1250 P PRM011 Primary Ciliary Dyskinesia 69
1251 P NSP012 Nasopharyngeal Carcinoma 67
1252 c SCL052 Scleroderma, Familial Progressive 62
1253 P CRN108 Cranioectodermal Dysplasia 1 62
1254 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 62
1255 ANT009 Antithrombin Iii Deficiency 59
1256 P RST002 Restrictive Cardiomyopathy 56
1257 PRC002 Paracoccidioidomycosis 53
1258 c CRD093 Cardiomyopathy, Dilated, 1a 52
1259 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
1260 c CRD099 Cardiomyopathy, Dilated, 1e 51
1261 P RNL028 Renal Tubular Dysgenesis 50
1262 PLM017 Pulmonary Alveolar Microlithiasis 50
1263 P CRY007 Cryoglobulinemia, Familial Mixed 50
1264 c CRD187 Cardiomyopathy, Dilated, 3b 49
1265 c CRD233 Cardiomyopathy, Dilated, 1b 48
1266 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
1267 c CRD097 Cardiomyopathy, Dilated, 1d 45
1268 c ORF033 Orofaciodigital Syndrome V 44
1269 P RRC004 Rare Cardiomyopathy 44
1270 c JBR016 Joubert Syndrome 10 43
1271 c CRD105 Cardiomyopathy, Dilated, 1o 41
1272 c CRD102 Cardiomyopathy, Dilated, 1j 41
1273 TXC011 Toxocariasis 40
1274 c MCP051 Mucopolysaccharidosis, Type Ix 39
1275 c CRD091 Cardiomyopathy, Dilated, 1dd 38
1276 c CRD080 Cardiomyopathy, Dilated, 1g 37
1277 c CRD082 Cardiomyopathy, Dilated, 1gg 37
1278 c CRD114 Cardiomyopathy, Dilated, 1m 36
1279 c CRN109 Cranioectodermal Dysplasia 2 36
1280 c LTH008 Lethal Congenital Contracture Syndrome 2 36
1281 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
1282 c CRD104 Cardiomyopathy, Dilated, 1p 33
1283 c ORF038 Orofaciodigital Syndrome Iii 33
1284 c CRD155 Cardiomyopathy, Dilated, 1kk 32
1285 c CRD096 Cardiomyopathy, Dilated, 1ee 32
1286 c CRD090 Cardiomyopathy, Dilated, 1l 31
1287 c CRD176 Cardiomyopathy, Familial Restrictive, 1 30
1288 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
1289 c ORF036 Orofaciodigital Syndrome Xiv 30
1290 c ATM102 Autoimmune Cardiomyopathy 30
1291 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 29
1292 LRY013 Laryngeal Neuroendocrine Tumor 29
1293 c CRD069 Cardiomyopathy, Dilated, 1h 29
1294 c CRD107 Cardiomyopathy, Dilated, 1r 28
1295 c CRD101 Cardiomyopathy, Dilated, 1x 26
1296 c CRD098 Cardiomyopathy, Familial Restrictive, 3 25
1297 c CRD159 Cardiomyopathy, Dilated, 1hh 25
1298 c CRD111 Cardiomyopathy, Dilated, 1i 24
1299 c CRD149 Cardiomyopathy, Dilated, 1jj 24
1300 c CRD092 Cardiomyopathy, Dilated, 1w 24
1301 c DLT017 Dilated Cardiomyopathy 1t 23
1302 c CRD115 Cardiomyopathy, Dilated, 1cc 23
1303 c CRD162 Cardiomyopathy, Dilated, 1ii 23
1304 c CRD153 Cardiomyopathy, Dilated, 2b 23
1305 c CRD063 Cardiomyopathy, Dilated, 2a 22
1306 c CRD173 Cardiomyopathy, Dilated, 1nn 22
1307 c CRD112 Cardiomyopathy, Dilated, 1u 21
1308 c CRD060 Cardiomyopathy, Dilated, 1z 21
1309 c CRD113 Cardiomyopathy, Dilated, 1v 21
1310 c CRD244 Cardiomyopathy, Dilated, 2c 21
1311 c CRD108 Cardiomyopathy, Dilated, 1bb 20
1312 c CRD064 Cardiomyopathy, Dilated, 1ff 19
1313 c CRD057 Cardiomyopathy, Familial Restrictive, 2 16
1314 c LMN001 Lmna-Related Dilated Cardiomyopathy 14
1315 c CRD070 Cardiomyopathy, Dilated, 1k 14
1316 c CRD071 Cardiomyopathy, Dilated, 1q 14
1317 c ORF006 Orofaciodigital Syndrome 13 13
1318 c ORF005 Orofaciodigital Syndrome 12 13
1319 c CRD027 Cardiomyopathy Due to Anthracyclines 6
1320 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1321 P MYC084 Mycobacterium Tuberculosis 1 68
1322 c MYC055 Mycobacterium Tuberculosis 3 14
1323 EWN003 Ewing Sarcoma 68
1324 c DPH024 Diaphragmatic Hernia, Congenital 64
1325 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
1326 MXD005 Mixed Connective Tissue Disease 59
1327 CYS008 Cystic Echinococcosis 50
1328 P ORF001 Orofaciodigital Syndrome 48
1329 c NMN014 Niemann-Pick Disease, Type C2 48
1330 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 37
1331 c MYC054 Mycobacterium Tuberculosis 2 13
1332 P SRC025 Sarcoidosis 1 70
1333 P CHR012 Chronic Granulomatous Disease 67
1334 c NMN013 Niemann-Pick Disease, Type a 62
1335 BRT002 Birt-Hogg-Dube Syndrome 62
1336 c MCP045 Mucopolysaccharidosis, Type Iiic 40
1337 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 13
1338 P PLR004 Pleuropulmonary Blastoma 65
1339 c ORF034 Orofaciodigital Syndrome Vi 52
1340 c ORF035 Orofaciodigital Syndrome Iv 46
1341 c MCP048 Mucopolysaccharidosis, Type Ivb 38
1342 c MCP046 Mucopolysaccharidosis, Type Iiid 36
1343 c TBR025 Tuberous Sclerosis 1 76
1344 c TBR026 Tuberous Sclerosis 2 71
1345 P TBR001 Tuberous Sclerosis 70
1346 c ORF043 Orofaciodigital Syndrome Ix 29
1347 c ORF039 Orofaciodigital Syndrome Vii 22



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