Respiratory Diseases Category (1075 diseases)


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

# Family MCID Name MIFTS
1 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
2 INT066 Interstitial Lung Disease 65
3 BRD003 Bird Fancier's Lung 44
4 CYS021 Cystic Adenomatoid Malformation of Lung 34
5 CHL079 Children's Interstitial Lung Disease 16
6 NNT049 Nontuberculous Mycobacterial Lung Disease 46
7 FRM003 Farmer's Lung 42
8 HYP692 Hypersensitivity Pneumonitis, Familial 22
9 LNG099 Lung Disease 70
10 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 9
11 CHL148 Childhood Lung Small Cell Carcinoma 5
12 MPL002 Maple Bark Strippers' Lung 11
13 AST005 Asthma 81
14 MLT013 Malt Worker's Lung 9
15 P PLM036 Pulmonary Fibrosis 70
16 LNG031 Lung Benign Neoplasm 56
17 c PLM044 Pulmonary Fibrosis, Familial 16
18 PRQ001 Paraquat Lung 15
19 HLR001 Hilar Lung Neoplasm 8
20 ANT018 Anthracosis 46
21 P PLM037 Pulmonary Hypertension 77
22 P RSP003 Respiratory Failure 72
23 c SVR001 Severe Acute Respiratory Syndrome 60
24 c PLM127 Pulmonary Hypertension, Primary, 3 26
25 c PLM121 Pulmonary Hypertension, Primary, 4 25
26 c PLM128 Pulmonary Hypertension, Primary, 2 24
27 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 14
28 LBR003 Labrador Lung 13
29 PLM129 Pulmonary Disease, Chronic Obstructive 75
30 CYS044 Cystic Disease of Lung 31
31 LNG009 Lung Meningioma 28
32 TMR016 Tumor Suppressor Gene on Chromosome 11 21
33 c CNG397 Congenital Pulmonary Airway Malformation Type 3 11
34 LNG012 Lung Occult Squamous Cell Carcinoma 10
35 P CNG396 Congenital Pulmonary Airway Malformation Type 2 10
36 c CNG398 Congenital Pulmonary Airway Malformation Type 1 8
37 LNG014 Lung Superior Sulcus Carcinoma 7
38 P LNG021 Lung Occult Small Cell Carcinoma 7
39 LNG034 Lung Hilum Cancer 7
40 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 4
41 P PNM007 Pneumonia 72
42 P ADL010 Adult Respiratory Distress Syndrome 64
43 c BCT013 Bacterial Pneumonia 55
44 PRG008 Paragonimiasis 43
45 c VRL005 Viral Pneumonia 40
46 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 29
47 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 24
48 c ADL080 Adult Acute Respiratory Distress Syndrome 11
49 PLM012 Pulmonary Sarcoidosis 59
50 PLM017 Pulmonary Alveolar Microlithiasis 52
51 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 36
52 PLM028 Pulmonary Coin Lesion 33
53 LNG030 Lung Adenoma 31
54 LNG036 Lung Leiomyoma 26
55 LNG091 Lung Mucoepidermoid Carcinoma 24
56 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 23
57 P SLP006 Sleep Apnea 70
58 CYS008 Cystic Echinococcosis 49
59 PLR007 Pleural Empyema 46
60 HYP015 Hyperlucent Lung 38
61 DSQ001 Desquamative Interstitial Pneumonia 38
62 PLM015 Pulmonary Systemic Sclerosis 24
63 VNT001 Ventilation Pneumonitis 23
64 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 20
65 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 19
66 CRK001 Cork-Handlers' Disease 14
67 PLM002 Pulmonary Plasma Cell Granuloma 13
68 c CNG405 Congenital Pulmonary Airway Malformation Type 4 9
69 c CNG406 Congenital Pulmonary Airway Malformation Type 0 9
70 BSL003 Basaloid Lung Carcinoma 8
71 c LNG006 Lung Occult Large Cell Carcinoma 6
72 NNS012 Non-Small Cell Lung Cancer, Childhood 4
73 CLB015 Colobomata Unilobar Lung Heart Defect 4
74 BRN024 Bronchitis 70
75 BRN002 Bronchiolitis 62
76 LGN001 Legionnaires' Disease 54
77 PLM032 Pulmonary Blastoma 54
78 LNG095 Lung Abscess 37
79 BRT055 Breath-Holding Spells 35
80 MSH001 Mushroom Workers' Lung 8
81 P ATR011 Atrial Fibrillation 69
82 BRN038 Bronchial Disease 58
83 BRN022 Bronchiectasis 58
84 c CHR576 Chronic Beryllium Disease 44
85 P BRY005 Beryllium Disease 44
86 TRC026 Tracheal Disease 37
87 PNM005 Pneumonic Plague 36
88 LNG023 Lung Leiomyosarcoma 29
89 c ATR026 Atrial Fibrillation, Familial, 1 21
90 c ATR072 Atrial Fibrillation, Familial, 13 20
91 c ATR039 Atrial Fibrillation, Familial, 4 19
92 c ATR035 Atrial Fibrillation, Familial, 6 19
93 c ATR061 Atrial Fibrillation, Familial, 10 19
94 c ATR059 Atrial Fibrillation, Familial, 11 19
95 c ATR069 Atrial Fibrillation, Familial, 12 19
96 c ATR092 Atrial Fibrillation, Familial, 15 18
97 c ATR037 Atrial Fibrillation, Familial, 7 18
98 c ATR068 Atrial Fibrillation, Familial, 14 18
99 c ATR038 Atrial Fibrillation, Familial, 3 17
100 c ATR085 Atrial Fibrillation, Familial, 18 17
101 c ATR070 Atrial Fibrillation, Familial, 9 16
102 c ATR027 Atrial Fibrillation, Familial, 5 15
103 c ATR025 Atrial Fibrillation, Familial, 2 14
104 c ATR028 Atrial Fibrillation, Familial, 8 13
105 c LNG086 Lung Cancer Susceptibility 5 11
106 c LNG003 Lung Carcinoma in Situ 9
107 P HRT032 Heart Disease 76
108 PLM001 Pulmonary Tuberculosis 74
109 APN008 Apnea, Obstructive Sleep 68
110 LGN002 Legionellosis 68
111 HST011 Histoplasmosis 57
112 P PNC025 Panic Disorder 57
113 PLR008 Pleurisy 53
114 c CLR131 Ciliary Dyskinesia, Primary, 1 52
115 P PLM006 Pulmonary Alveolar Proteinosis 50
116 ASP005 Asphyxiating Thoracic Dystrophy 44
117 BRN014 Bronchopneumonia 43
118 CRP002 Croup 43
119 P SMK004 Smoking As a Quantitative Trait Locus 3 37
120 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 35
121 HMN012 Hemangioma of Lung 30
122 c CLR091 Ciliary Dyskinesia, Primary, 14 27
123 ASB002 Asbestos-Related Lung Carcinoma 26
124 c CLR090 Ciliary Dyskinesia, Primary, 22 25
125 c CLR066 Ciliary Dyskinesia, Primary, 2 24
126 c CLR114 Ciliary Dyskinesia, Primary, 30 24
127 c CLR094 Ciliary Dyskinesia, Primary, 28 23
128 c CNG520 Congenital Heart Defects, Multiple Types, 6 23
129 c CLR102 Ciliary Dyskinesia, Primary, 17 22
130 c CLR105 Ciliary Dyskinesia, Primary, 20 22
131 c CLR106 Ciliary Dyskinesia, Primary, 26 22
132 c CLR068 Ciliary Dyskinesia, Primary, 5 22
133 c CLR125 Ciliary Dyskinesia, Primary, 33 22
134 c CLR095 Ciliary Dyskinesia, Primary, 19 22
135 c CLR126 Ciliary Dyskinesia, Primary, 35 22
136 c CLR104 Ciliary Dyskinesia, Primary, 15 22
137 c CLR054 Ciliary Dyskinesia, Primary, 12 22
138 c CLR042 Ciliary Dyskinesia, Primary, 6 21
139 c CLR117 Ciliary Dyskinesia, Primary, 32 21
140 c CLR101 Ciliary Dyskinesia, Primary, 25 21
141 c CNG404 Congenital Heart Defects, Multiple Types, 4 21
142 c CLR136 Ciliary Dyskinesia, Primary, 9 21
143 c CLR092 Ciliary Dyskinesia, Primary, 18 21
144 c CLR116 Ciliary Dyskinesia, Primary, 29 21
145 c CLR098 Ciliary Dyskinesia, Primary, 27 21
146 c CLR099 Ciliary Dyskinesia, Primary, 16 20
147 c CLR135 Ciliary Dyskinesia, Primary, 7 20
148 c CLR088 Ciliary Dyskinesia, Primary, 21 20
149 c CLR059 Ciliary Dyskinesia, Primary, 13 20
150 HYD053 Hydrocephalus with Associated Malformations 20
151 c CLR097 Ciliary Dyskinesia, Primary, 23 20
152 c CLR056 Ciliary Dyskinesia, Primary, 10 20
153 c CLR107 Ciliary Dyskinesia, Primary, 24 19
154 c CLR053 Ciliary Dyskinesia, Primary, 11 19
155 c CNG511 Congenital Heart Defects, Multiple Types, 2 19
156 c CLR134 Ciliary Dyskinesia, Primary, 3 19
157 c CLR124 Ciliary Dyskinesia, Primary, 34 18
158 c CLR123 Ciliary Dyskinesia, Primary, 37 18
159 c CNG521 Congenital Heart Defects, Multiple Types, 5 18
160 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
161 c PNC122 Panic Disorder 1 17
162 c CLR138 Ciliary Dyskinesia, Primary, 38 17
163 c CLR067 Ciliary Dyskinesia, Primary, 4 17
164 c SCN051 Secondary Pulmonary Alveolar Proteinosis 16
165 c CLR069 Ciliary Dyskinesia, Primary, 8 16
166 c CLR139 Ciliary Dyskinesia, Primary, 39 16
167 c CLR140 Ciliary Dyskinesia, Primary, 40 16
168 FTL048 Fetal Lung Interstitial Tumor 12
169 c LNG065 Lung Cancer Susceptibility 4 10
170 c PNC068 Panic Disorder 3 10
171 c PNC070 Panic Disorder 2 9
172 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 8
173 c SMK002 Smoking As a Quantitative Trait Locus 2 6
174 c SMK001 Smoking As a Quantitative Trait Locus 1 6
175 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 6
176 c LNG001 Lung Clear Cell Carcinoma 6
177 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 6
178 LNG010 Lung Clear Cell-Sugar-Tumor 5
179 HLR002 Hilar Lung Carcinoma 5
180 CYS001 Cystic Fibrosis 83
181 P SRC025 Sarcoidosis 1 76
182 GRN037 Granulomatosis with Polyangiitis 69
183 c NMN015 Niemann-Pick Disease, Type C1 68
184 P ASP006 Aspergillosis 67
185 c MCP050 Mucopolysaccharidosis, Type Ii 67
186 P GCH001 Gaucher's Disease 66
187 c MCP049 Mucopolysaccharidosis, Type Vii 65
188 c GCH015 Gaucher Disease, Type I 65
189 TBC004 Tobacco Addiction 64
190 P SNS014 Sinusitis 64
191 RSP006 Respiratory System Disease 64
192 c MCP001 Mucopolysaccharidosis Iii 63
193 P LPR021 Leprosy 3 63
194 P RHN004 Rhinitis 63
195 P HST010 Histiocytosis 63
196 c MCP052 Mucopolysaccharidosis, Type Vi 62
197 ALP103 Alpha-1-Antitrypsin Deficiency 62
198 IDP011 Idiopathic Interstitial Pneumonia 62
199 HNC001 Henoch-Schoenlein Purpura 62
200 NWB001 Newborn Respiratory Distress Syndrome 61
201 AVN001 Avian Influenza 60
202 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
203 c MCP004 Mucopolysaccharidosis Iv 60
204 PLM010 Pulmonary Edema 60
205 P PLM034 Pulmonary Emphysema 59
206 c NMN016 Niemann-Pick Disease, Type B 59
207 c GCH016 Gaucher Disease, Type Ii 59
208 GRN051 Granulomatous Disease, Chronic, X-Linked 58
209 PNM008 Pneumothorax 58
210 c NMN013 Niemann-Pick Disease, Type a 58
211 GDP001 Goodpasture Syndrome 57
212 RSP019 Respiratory Distress Syndrome in Premature Infants 57
213 PLR022 Pleural Disease 56
214 P CRN108 Cranioectodermal Dysplasia 1 56
215 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55
216 c GCH017 Gaucher Disease, Type Iii 55
217 P PNM006 Pneumoconiosis 54
218 LPR001 Lepromatous Leprosy 54
219 P LRY019 Laryngitis 54
220 c NMN014 Niemann-Pick Disease, Type C2 53
221 c MCP043 Mucopolysaccharidosis, Type Iiia 53
222 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 52
223 PLR001 Pleural Tuberculosis 52
224 c INV001 Invasive Aspergillosis 52
225 LRY017 Laryngeal Disease 51
226 PRN021 Paranasal Sinus Disease 51
227 c CNT015 Central Sleep Apnea 50
228 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 50
229 P NMN002 Niemann-Pick Disease 50
230 c ACH041 Achondrogenesis, Type Ii 50
231 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 50
232 PLR005 Pleuropneumonia 49
233 ACT017 Acute Chest Syndrome 49
234 EXT033 Extrapulmonary Tuberculosis 49
235 NNS002 Nonspecific Interstitial Pneumonia 48
236 TBR006 Tuberculoid Leprosy 48
237 c MLG054 Malignant Histiocytosis 48
238 PLM035 Pulmonary Eosinophilia 48
239 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 47
240 c ACH042 Achondrogenesis, Type Ib 47
241 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 47
242 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 47
243 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 46
244 MCC002 Mucocutaneous Leishmaniasis 46
245 CHN065 Choanal Atresia, Posterior 46
246 ASP008 Aspiration Pneumonitis 46
247 STT002 Status Asthmaticus 46
248 NSP003 Nasopharyngeal Disease 46
249 c ACH033 Achondrogenesis, Type Ia 45
250 c MLG079 Malignant Pleural Mesothelioma 45
251 SHR098 Short-Rib Thoracic Dysplasia 12 45
252 c MCP047 Mucopolysaccharidosis, Type Iva 45
253 SWN001 Swine Influenza 45
254 c MCP044 Mucopolysaccharidosis, Type Iiib 44
255 PHH001 Phaeohyphomycosis 44
256 UPP004 Upper Respiratory Tract Disease 44
257 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 44
258 DPH021 Diaphragm Disease 43
259 P PNT019 Pontocerebellar Hypoplasia 43
260 BRY001 Berylliosis 43
261 STR103 Streptococcus Pneumonia 43
262 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
263 CHL147 Chlamydia Pneumonia 42
264 INH001 Inhalation Anthrax 42
265 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
266 NNT008 Neonatal Abstinence Syndrome 42
267 c JBR024 Joubert Syndrome 14 41
268 P ACH011 Achondrogenesis 41
269 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
270 c TYP024 Type Ii Mixed Cryoglobulinemia 40
271 c SRC023 Sarcoidosis 2 40
272 c CHR048 Chronic Rhinitis 40
273 PDT035 Pediatric Systemic Lupus Erythematosus 39
274 P TRC005 Tracheal Stenosis 39
275 LTT002 Letterer-Siwe Disease 39
276 INT011 Interstitial Emphysema 39
277 TXC007 Toxic Pneumonitis 39
278 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 39
279 ESN017 Eosinophilic Granuloma 39
280 c PNT010 Pontocerebellar Hypoplasia Type 1 39
281 P MXL015 Maxillary Sinusitis 38
282 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
283 c JBR015 Joubert Syndrome 6 38
284 LRY004 Laryngotracheitis 38
285 PLM018 Pulmonary Sclerosing Hemangioma 38
286 SCK001 Sick Building Syndrome 38
287 ADN067 Adenoid Hypertrophy 37
288 BGS001 Bagassosis 37
289 INT040 Intrinsic Asthma 37
290 ETH009 Ethmoid Sinusitis 36
291 KLB003 Klebsiella Pneumonia 36
292 c CHR057 Chronic Laryngitis 36
293 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 36
294 DFF002 Diffuse Pulmonary Fibrosis 35
295 EPG003 Epiglottitis 35
296 c MCP051 Mucopolysaccharidosis, Type Ix 35
297 SPR006 Sparganosis 35
298 CGH001 Cough Variant Asthma 35
299 TBR009 Tuberculous Empyema 35
300 IDP074 Idiopathic Bronchiectasis 35
301 VSM001 Vasomotor Rhinitis 35
302 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 34
303 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 34
304 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
305 c ACT072 Acute Laryngitis 34
306 ATR003 Atrophic Rhinitis 34
307 ANT002 Anti-Basement Membrane Glomerulonephritis 34
308 EPT003 Epithelioid Trophoblastic Tumor 34
309 c MCP045 Mucopolysaccharidosis, Type Iiic 34
310 PLM180 Pulmonary Artery Disease 34
311 c MCP048 Mucopolysaccharidosis, Type Ivb 33
312 c ACT059 Acute Maxillary Sinusitis 33
313 NNT004 Neonatal Respiratory Failure 33
314 LRY007 Laryngeal Tuberculosis 33
315 c FRN011 Frontal Sinusitis 32
316 TRC020 Tracheitis 32
317 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
318 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
319 c JBR041 Joubert Syndrome 3 32
320 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 32
321 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
322 ALV003 Alveoli Adenoma 31
323 ADN002 Adenoiditis 31
324 c JBR025 Joubert Syndrome 17 31
325 c MCP046 Mucopolysaccharidosis, Type Iiid 31
326 HMP003 Hemopneumothorax 31
327 c CHR038 Chronic Maxillary Sinusitis 31
328 PLM007 Pulmonary Aspergilloma 30
329 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
330 c CRN109 Cranioectodermal Dysplasia 2 30
331 c JBR022 Joubert Syndrome 20 30
332 BRD005 Borderline Leprosy 30
333 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 30
334 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
335 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
336 BRN133 Bronchomalacia 30
337 c JBR012 Joubert Syndrome 5 29
338 PLM013 Pulmonary Immaturity 29
339 SPH007 Sphenoid Sinusitis 29
340 c GCH013 Gaucher Disease, Type Iiic 29
341 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
342 LRY022 Laryngoonychocutaneous Syndrome 28
343 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 28
344 NSL022 Nasal Cavity Disease 28
345 PNT001 Pontiac Fever 28
346 c LPR022 Leprosy 2 27
347 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 27
348 c CHR047 Chronic Ethmoiditis 27
349 c JBR014 Joubert Syndrome 9 27
350 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 27
351 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
352 RGH006 Right Aortic Arch 26
353 PNM002 Pneumonic Tularemia 26
354 CPL001 Capillariasis 26
355 BRN040 Bronchus Adenoma 26
356 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 26
357 c CRN110 Cranioectodermal Dysplasia 3 26
358 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 26
359 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
360 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
361 DFF031 Diffuse Alveolar Hemorrhage 25
362 c JBR031 Joubert Syndrome 21 25
363 c JBR016 Joubert Syndrome 10 25
364 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 25
365 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
366 P PLM064 Pulmonary Sequestration 25
367 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
368 IND004 Indeterminate Leprosy 25
369 ADS001 Adiaspiromycosis 25
370 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
371 c JBR013 Joubert Syndrome 8 24
372 PLS031 Plastic Bronchitis 24
373 c CRN111 Cranioectodermal Dysplasia 4 24
374 P ACR020 Acropectorovertebral Dysplasia 24
375 c JBR011 Joubert Syndrome 7 24
376 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 23
377 PLM004 Pulmonary Artery Leiomyosarcoma 23
378 c JBR030 Joubert Syndrome 22 23
379 c JBR018 Joubert Syndrome 4 23
380 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 23
381 c JBR037 Joubert Syndrome 26 22
382 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 22
383 P TTR028 Tetraamelia Syndrome 1 22
384 c JBR021 Joubert Syndrome 18 22
385 c JBR035 Joubert Syndrome 24 22
386 c JBR039 Joubert Syndrome 28 21
387 c JBR040 Joubert Syndrome 30 21
388 c JBR027 Joubert Syndrome 16 21
389 LFF002 Loeffler Syndrome 21
390 MDD005 Middle Lobe Syndrome 21
391 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
392 ANT017 Anthracosilicosis 21
393 c JBR043 Joubert Syndrome 32 21
394 c ACT035 Acute Frontal Sinusitis 20
395 ASB003 Asbestos Intoxication 20
396 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 20
397 TRC110 Tracheobronchial Stenosis, Congenital 20
398 c JBR045 Joubert Syndrome 33 20
399 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 20
400 TRC016 Tracheal Calcification 20
401 c LPR023 Leprosy 1 20
402 c JBR036 Joubert Syndrome 25 19
403 c JBR028 Joubert Syndrome 13 19
404 CHR468 Chronic Pneumonitis of Infancy 19
405 c CHR040 Chronic Frontal Sinusitis 19
406 FRN004 Frontal Sinus Inverted Papilloma 19
407 c JBR044 Joubert Syndrome 31 19
408 c JBR038 Joubert Syndrome 27 18
409 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 18
410 ACT016 Actinobacillosis 18
411 c JBR047 Joubert Syndrome 35 18
412 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 17
413 DYS135 Dysphagia Lusoria 17
414 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
415 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 17
416 c CNG121 Congenital Pulmonary Alveolar Proteinosis 17
417 c SRC024 Sarcoidosis 3 17
418 c CNG370 Congenital Tracheal Stenosis 17
419 HNR001 Heiner Syndrome 17
420 KMM002 Kommerell Diverticulum 16
421 PLM108 Pulmonary Interstitial Glycogenosis 16
422 c TTR029 Tetraamelia Syndrome 2 16
423 c PNM004 Pneumoconiosis Due to Talc 15
424 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 15
425 c PTN012 Patent Ductus Arteriosus 3 15
426 APN006 Apnea of Prematurity 15
427 P LRY049 Laryngotracheoesophageal Cleft Type 4 15
428 END006 Endobronchial Lipoma 15
429 PRS111 Persistent Fifth Aortic Arch 15
430 c PTN013 Patent Ductus Arteriosus 2 15
431 CRV066 Cervical Aortic Arch 15
432 CNG243 Congenital Subglottic Stenosis 14
433 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
434 c LPR017 Leprosy 5 14
435 SPN014 Spontaneous Tension Pneumothorax 14
436 PLR002 Pleural Lipoma 14
437 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 14
438 ISL118 Isolated Tracheoesophageal Fistula 14
439 c PSD023 Pseudo-Gaucher Disease 14
440 UVL006 Uvulitis 14
441 SLF002 Silo Filler's Disease 13
442 c LPR016 Leprosy 4 13
443 c VRL001 Viral Laryngitis 13
444 c LPR020 Leprosy 6 13
445 c ACR046 Acropectorovertebral Dysplasia F Form 13
446 P ACT034 Acute Ethmoiditis 12
447 c MXD037 Mixed Cryoglobulinemia Type Iii 12
448 MXL005 Maxillary Sinus Inverted Papilloma 12
449 CLS002 Classic Pulmonary Blastoma 12
450 P ACT061 Acute Sphenoidal Sinusitis 11
451 c LRY051 Laryngotracheoesophageal Cleft Type 1 11
452 SBG002 Subglottic Angioma 11
453 c CHR039 Chronic Sphenoidal Sinusitis 11
454 END019 Endobronchial Leiomyoma 10
455 c CNG257 Congenital Pulmonary Sequestration 10
456 c PLR018 Pleuropulmonary Blastoma Type 1 10
457 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
458 CMP003 Compensatory Emphysema 10
459 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 10
460 ETH006 Ethmoid Sinus Inverted Papilloma 9
461 SPH005 Sphenoid Sinus Inverted Papilloma 9
462 c EMP012 Emphysema, Hereditary Pulmonary 9
463 ISL036 Isolated Pulmonary Capillaritis 9
464 c SCN047 Secondary Pulmonary Hemosiderosis 9
465 ACT018 Acute Laryngopharyngitis 9
466 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
467 TBR004 Tuberculous Pneumothorax 8
468 NSL002 Nasal Vestibule Papilloma 8
469 ANR006 Anaerobic Pneumonia 8
470 c PLR019 Pleuropulmonary Blastoma Type 2 8
471 c PLR020 Pleuropulmonary Blastoma Type 3 8
472 MXL007 Maxillary Sinus Cholesteatoma 8
473 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
474 NSL001 Nasal Cavity Inverting Papilloma 7
475 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
476 FRN001 Frontal Sinus Schneiderian Papilloma 6
477 EPT004 Epithelial Predominant Pulmonary Blastoma 6
478 MXL003 Maxillary Sinus Schneiderian Papilloma 6
479 c LCL003 Localized Pulmonary Fibrosis 6
480 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
481 INT186 Intralobar Congenital Pulmonary Sequestration 6
482 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
483 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
484 EXT047 Extralobar Congenital Pulmonary Sequestration 6
485 16Q002 16q24.1 Microdeletion Syndrome 6
486 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 5
487 PST015 Postinflammatory Pulmonary Fibrosis 5
488 NRL003 Neurilemmoma of the Pleura 5
489 TRN052 Transient Hyperammonemia of the Newborn 5
490 ETH007 Ethmoid Sinus Ectopic Meningioma 5
491 ACT227 Acute Respiratory Coronavirus Infection 5
492 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 5
493 ENC035 Encircling Double Aortic Arch 4
494 SLT003 Slate Pneumoconiosis 4
495 STP010 Staphylococcal Necrotizing Pneumonia 4
496 SPR139 Superior Celosomia 4
497 MXD022 Mixed Mineral Dust Pneumoconiosis 3
498 P LNG032 Lung Cancer 99
499 c SML038 Small Cell Cancer of the Lung 69
500 P LNG064 Lung Cancer Susceptibility 3 80
501 LNG039 Lung Squamous Cell Carcinoma 62
502 c ACT210 Acute Respiratory Distress Syndrome 66
503 P LNG035 Lung Large Cell Carcinoma 41
504 PLM134 Pulmonary Fibrosis, Idiopathic 74
505 LNG054 Lung Agenesis 35
506 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 24
507 LNG017 Lung Giant Cell Carcinoma 43
508 LNG016 Lung Papillary Adenocarcinoma 31
509 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 28
510 LNG019 Lung Combined Type Small Cell Carcinoma 24
511 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 21
512 THY044 Thymic-Renal-Anal-Lung Dysplasia 15
513 PLM033 Pulmonary Embolism 64
514 LNG013 Lung Lymphoma 42
515 LNG005 Lung Occult Adenocarcinoma 11
516 INT271 Interstitial Lung and Liver Disease 34
517 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 30
518 SLC006 Silicosis 58
519 c MCR256 Microphthalmia, Syndromic 9 52
520 BRN015 Bronchiolo-Alveolar Adenocarcinoma 50
521 c MCR263 Microphthalmia, Syndromic 1 41
522 c MCR261 Microphthalmia, Syndromic 2 41
523 P MCR241 Microphthalmia, Syndromic 3 40
524 c MCR251 Microphthalmia, Syndromic 6 31
525 c LNG109 Lung Cancer Susceptibility 1 30
526 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 28
527 c MCR245 Microphthalmia, Syndromic 8 28
528 c MCR252 Microphthalmia, Syndromic 5 26
529 c MCR212 Microphthalmia, Syndromic 12 25
530 c MCR228 Microphthalmia, Syndromic 13 24
531 c MCR262 Microphthalmia, Syndromic 4 22
532 c MCR217 Microphthalmia, Syndromic 11 22
533 c MCR312 Microphthalmia, Syndromic 10 20
534 P BRN120 Bronchus Cancer 51
535 P PLM085 Pulmonary Hemosiderosis 45
536 LNG011 Lung Adenoid Cystic Carcinoma 41
537 LNG022 Lung Acinar Adenocarcinoma 23
538 c BRN001 Bronchus Carcinoma in Situ 5
539 DFC004 Deficiency Anemia 65
540 BRN012 Bronchiolitis Obliterans 60
541 PNM010 Pneumothorax, Primary Spontaneous 55
542 ADN089 Adenosquamous Lung Carcinoma 49
543 SRF006 Surfactant Dysfunction 37
544 LNG110 Lung Mucinous Cystadenocarcinoma 10
545 MLD001 Melioidosis 73
546 P MYC084 Mycobacterium Tuberculosis 1 68
547 BRN056 Bronchopulmonary Dysplasia 61
548 P ESN008 Eosinophilic Pneumonia 55
549 SPR004 Supravalvular Aortic Stenosis 53
550 ACT029 Acute Interstitial Pneumonia 49
551 c CHR037 Chronic Eosinophilic Pneumonia 49
552 CRY001 Cryptogenic Organizing Pneumonia 47
553 TTL012 Total Anomalous Pulmonary Venous Return 1 42
554 PNB004 Panbronchiolitis, Diffuse 38
555 MCN023 Mucinous Lung Adenocarcinoma 37
556 INT304 Interstitial Pneumonitis, Desquamative, Familial 36
557 LNG037 Lung Sarcoma 35
558 PLM039 Pulmonary Neuroendocrine Tumor 31
559 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 23
560 GRH002 Graham Boyle Troxell Syndrome 15
561 ALM003 Aluminosis 14
562 BRT013 Baritosis 13
563 c MYC055 Mycobacterium Tuberculosis 3 11
564 c MYC054 Mycobacterium Tuberculosis 2 9
565 SLC011 Silicosiderosis 9
566 ELL004 Ellis Yale Winter Syndrome 8
567 MNV001 Manouvrier Syndrome 7
568 LNG090 Lung Combined Type Small Cell Adenocarcinoma 5
569 SGN005 Signet Ring Lung Adenocarcinoma 4
570 P MYC007 Myocardial Infarction 78
571 PRT037 Pertussis 71
572 c BSL007 Basal Cell Carcinoma 65
573 P SML001 Small Cell Carcinoma 61
574 PLG002 Plague 59
575 ECH003 Echinococcosis 59
576 c ACT075 Acute Myocardial Infarction 57
577 MCN007 Meconium Aspiration Syndrome 55
578 c LRG001 Large Cell Carcinoma 48
579 c BSL024 Basal Cell Carcinoma 1 41
580 LNG020 Lung Oat Cell Carcinoma 35
581 c BSL011 Basal Cell Carcinoma, Multiple 33
582 c MYC058 Myocardial Infarction 2 31
583 c PST001 Posterior Myocardial Infarction 27
584 c JBR042 Joubert Syndrome 23 23
585 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 17
586 c BSL028 Basal Cell Carcinoma 5 16
587 c BSL034 Basal Cell Carcinoma 7 14
588 c BSL025 Basal Cell Carcinoma 2 14
589 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 13
590 URT041 Urethral Obstruction Sequence 12
591 c BSL026 Basal Cell Carcinoma 3 11
592 c BSL027 Basal Cell Carcinoma 4 11
593 c BSL029 Basal Cell Carcinoma 6 11
594 GRP001 Graphite Pneumoconiosis 10
595 SGL001 Siegler Brewer Carey Syndrome 9
596 P RHM011 Rheumatoid Arthritis 82
597 c JVN010 Juvenile Rheumatoid Arthritis 72
598 c ART115 Aortic Valve Disease 1 70
599 VRL011 Viral Infectious Disease 69
600 c ART101 Aortic Valve Disease 2 68
601 P BRG001 Brugada Syndrome 62
602 CCC001 Coccidioidomycosis 61
603 ALL006 Allergic Asthma 61
604 P END033 Endocarditis 60
605 P MYC008 Myocarditis 59
606 PTN001 Patent Foramen Ovale 59
607 P PLY041 Polymyositis 59
608 PHR003 Pharyngitis 58
609 MCR088 Microscopic Polyangiitis 57
610 MYC087 Mycoplasma Pneumoniae Pneumonia 55
611 CRY005 Cryptococcosis 55
612 FDL002 Food Allergy 54
613 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 53
614 P MRC003 Mercury Poisoning 53
615 ALV002 Alveolar Echinococcosis 52
616 BTY001 Butyrylcholinesterase Deficiency 52
617 NSD001 Nose Disease 52
618 HNT002 Hantavirus Pulmonary Syndrome 51
619 CNG046 Congenital Fiber-Type Disproportion 51
620 ESN011 Eisenmenger Syndrome 51
621 TMR010 Tumor Predisposition Syndrome 51
622 MCR141 Mucormycosis 51
623 OBS037 Obesity-Hypoventilation Syndrome 50
624 P ART018 Aortic Valve Insufficiency 50
625 RCR004 Recurrent Respiratory Papillomatosis 49
626 LYM004 Lymphoid Interstitial Pneumonia 49
627 HRT015 Heritable Pulmonary Arterial Hypertension 48
628 P NSL008 Nasal Cavity Cancer 48
629 ANT039 Antisynthetase Syndrome 48
630 P PLM025 Pulmonary Venoocclusive Disease 47
631 c ACT076 Acute Myocarditis 47
632 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 47
633 MLT134 Multiple Pterygium Syndrome, Lethal Type 46
634 P SDR002 Siderosis 46
635 ASP007 Aspiration Pneumonia 46
636 ACT055 Actinomycosis 45
637 ASP004 Asphyxia Neonatorum 45
638 HTR003 Heterotaxy 44
639 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 43
640 BRN039 Bronchial Neoplasm 43
641 ASB001 Asbestosis 42
642 TRN044 Transposition of the Great Arteries 42
643 CHY005 Chylothorax, Congenital 42
644 ORN001 Ornithosis 42
645 c BRG005 Brugada Syndrome 1 41
646 SCR015 Scarlet Fever 41
647 LTH001 Lethal Midline Granuloma 41
648 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 40
649 c SPN330 Spondylocostal Dysostosis 5 40
650 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 40
651 INS022 in Situ Pulmonary Adenocarcinoma 39
652 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 39
653 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 39
654 PTT002 Potter's Syndrome 39
655 c ATM022 Autoimmune Myocarditis 39
656 NSP002 Nasopharyngitis 39
657 PSR016 Psoriatic Juvenile Idiopathic Arthritis 38
658 RSP005 Respiratory System Cancer 38
659 P TRC024 Trachea Carcinoma 38
660 LPD001 Lipid Pneumonia 38
661 NSL006 Nasal Cavity Squamous Cell Carcinoma 37
662 NSL003 Nasal Cavity Adenocarcinoma 37
663 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 37
664 c SBC003 Subacute Bacterial Endocarditis 36
665 SCH010 Schneiderian Carcinoma 36
666 PLM052 Pulmonary Arteriovenous Malformation 36
667 NRS005 Neurosarcoidosis 35
668 EMP011 Emphysema, Congenital Lobar 35
669 BYS001 Byssinosis 34
670 ETH001 Ethmoid Sinus Adenocarcinoma 33
671 P MYS032 Myosin Storage Myopathy 33
672 TRC025 Tracheal Cancer 32
673 c BRG007 Brugada Syndrome 5 32
674 NSL010 Nasal Cavity Neoplasm 32
675 TRC035 Tracheal Agenesis 32
676 DRF001 Dirofilariasis 31
677 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
678 BRN137 Bronchial Neuroendocrine Tumor 30
679 MXL016 Maxillonasal Dysplasia, Binder Type 30
680 FBR028 Fibrosing Mediastinitis 29
681 ETH008 Ethmoid Sinus Cancer 29
682 CPL004 Caplan's Syndrome 29
683 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 28
684 TRC115 Tracheopathia Osteoplastica 28
685 SPR022 Supraglottis Neoplasm 28
686 BRN055 Bronchogenic Cyst 28
687 c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 27
688 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
689 TRC038 Tracheobronchomegaly 27
690 c BRG006 Brugada Syndrome 2 26
691 c JBR026 Joubert Syndrome 15 26
692 HSH001 Hashimoto-Pritzker Syndrome 26
693 MXL008 Maxillary Sinus Cancer 26
694 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 25
695 TMP008 Tempi Syndrome 25
696 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 25
697 CLF051 Cleft Larynx, Posterior 25
698 NSL004 Nasal Cavity Lymphoma 24
699 CRT060 Cor Triatriatum Sinister 24
700 PLR025 Pleuroparenchymal Fibroelastosis 24
701 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 23
702 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 23
703 INF043 Infantile Apnea 23
704 UNL013 Unilateral Absence of a Pulmonary Artery 23
705 TRC001 Trachea Leiomyoma 22
706 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 22
707 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 22
708 MNR004 Mounier-Kuhn Syndrome 22
709 LYM001 Lymphohistiocytoid Mesothelioma 22
710 LRY028 Laryngocele 22
711 c BRG003 Brugada Syndrome 3 21
712 TRC018 Tracheal Lymphoma 21
713 c BRG012 Brugada Syndrome 9 21
714 P SNS011 Sinus Cancer 21
715 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 21
716 IDP012 Idiopathic Acute Eosinophilic Pneumonia 20
717 LRY002 Laryngostenosis 20
718 c BRG009 Brugada Syndrome 7 20
719 RSP004 Respiratory System Benign Neoplasm 20
720 c JVN046 Juvenile Polymyositis 19
721 THR032 Thoracolaryngopelvic Dysplasia 19
722 SLD013 Solid Adenocarcinoma with Mucin Production 19
723 THR033 Thoracomelic Dysplasia 19
724 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 19
725 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 19
726 FRN010 Frontal Sinus Neoplasm 19
727 c BRG004 Brugada Syndrome 4 19
728 TRC014 Trachea Adenoid Cystic Carcinoma 18
729 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 18
730 c BRG010 Brugada Syndrome 8 18
731 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 18
732 SWY003 Swyer-James Syndrome 18
733 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 18
734 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
735 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 18
736 c BRG008 Brugada Syndrome 6 17
737 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
738 c SPN121 Spondylocostal Dysostosis 1 17
739 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
740 c INF055 Infectious Myocarditis 16
741 PRM133 Primary Pulmonary Lymphoma 16
742 CNG062 Congenital Bronchobiliary Fistula 16
743 DPH028 Diaphragmatic Flutter 15
744 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 15
745 P BNG022 Benign Pleural Mesothelioma 14
746 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 13
747 KLN003 Kaolin Pneumoconiosis 13
748 TRC019 Trachea Sarcoma 13
749 MXL009 Maxillary Sinus Neoplasm 13
750 c TRC002 Trachea Carcinoma in Situ 12
751 LRY014 Larynx Leiomyosarcoma 12
752 c FRN009 Frontal Sinus Cancer 12
753 MXL006 Maxillary Sinus Adenocarcinoma 12
754 c INF119 Infantile Mercury Poisoning 12
755 LRY008 Larynx Liposarcoma 11
756 PRN002 Paranasal Sinus Lymphoma 11
757 c NSL007 Nasal Cavity Carcinoma in Situ 11
758 c SPN122 Spondylocostal Dysostosis 2 10
759 EPG002 Epiglottis Cancer 10
760 c SPN123 Spondylocostal Dysostosis 3 10
761 c SPN124 Spondylocostal Dysostosis 4 10
762 MNB001 Main Bronchus Cancer 10
763 c CNG346 Congenital Aortic Valve Insufficiency 10
764 LRY001 Larynx Leiomyoma 9
765 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 9
766 PRP011 Puerperal Pulmonary Embolism 9
767 SPR015 Supraglottis Verrucous Carcinoma 9
768 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 9
769 SPH008 Sphenoidal Sinus Cancer 9
770 SBG003 Subglottis Verrucous Carcinoma 9
771 SMR006 Smarca4-Deficient Sarcoma of Thorax 9
772 GLT003 Glottis Verrucous Carcinoma 9
773 GLT001 Glottis Neoplasm 9
774 EPG001 Epiglottis Neoplasm 9
775 c SDR001 Siderosis of Eye 8
776 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 8
777 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 8
778 PLM023 Pulmonary Artery Choriocarcinoma 8
779 ETH010 Ethmoidal Sinus Neoplasm 7
780 SPH009 Sphenoidal Sinus Neoplasm 7
781 PRN003 Paranasal Sinus Sarcoma 7
782 SBG001 Subglottis Neoplasm 7
783 TRC090 Trachea Mucoepidermoid Carcinoma 6
784 BRN010 Bronchial Mucus Gland Adenoma 6
785 HXM001 Hexamethylene Diisocyanate Allergic Asthma 6
786 MTH085 Methyl Isocyanate Allergic Asthma 5
787 CBL010 Cobalt Allergic Asthma 5
788 MRP005 Meropenem Allergy 5
789 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 5
790 MLC007 Maleic Anhydride Allergic Asthma 5
791 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 5
792 ISC018 Isocyanates Allergic Asthma 5
793 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 5
794 NCK003 Nickel Allergic Asthma 5
795 TRM027 Trimellitic Anhydride Allergic Asthma 5
796 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 5
797 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
798 LRY006 Larynx Squamous Papilloma 4
799 HSL001 House Allergic Alveolitis 4
800 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 4
801 PHT014 Phthalic Anhydride Allergic Asthma 4
802 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 4
803 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 26
804 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 11
805 LYM007 Lymphangioleiomyomatosis 68
806 c PLM164 Pulmonary Hypertension, Primary, 1 71
807 CNT097 Central Hypoventilation Syndrome, Congenital 67
808 c DPH024 Diaphragmatic Hernia, Congenital 66
809 EXT034 Extrinsic Allergic Alveolitis 58
810 c DPH016 Diaphragmatic Hernia 3 16
811 c DPH025 Diaphragmatic Hernia 2 15
812 P HRN027 Hernia, Anterior Diaphragmatic 10
813 c MST023 Mesothelioma, Malignant 63
814 CRC006 Carcinoid Syndrome 62
815 P BNG032 Benign Mesothelioma 42
816 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 35
817 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 16
818 c BNG019 Benign Intermediate Mesothelioma 14
819 CMM004 Common Variable Immunodeficiency 71
820 P DRM010 Dermatomyositis 66
821 P BRL012 Bare Lymphocyte Syndrome, Type Ii 60
822 PNM001 Pneumocystosis 58
823 P PRM011 Primary Ciliary Dyskinesia 56
824 BRT002 Birt-Hogg-Dube Syndrome 54
825 BLS002 Blastomycosis 42
826 c BRL011 Bare Lymphocyte Syndrome, Type I 41
827 ALV006 Alveolar Capillary Dysplasia 39
828 c JBR004 Joubert Syndrome 2 39
829 c ADL027 Adult Dermatomyositis 38
830 ACT231 Acute Flaccid Myelitis 18
831 P FML018 Familial Mediterranean Fever 74
832 P TTR001 Tetralogy of Fallot 71
833 P SYS005 Systemic Scleroderma 70
834 c THR092 Thrombophilia Due to Thrombin Defect 70
835 P CHR012 Chronic Granulomatous Disease 70
836 ALL003 Allergic Rhinitis 69
837 c SCL052 Scleroderma, Familial Progressive 68
838 P CRD119 Cardiac Arrest 66
839 P NSP012 Nasopharyngeal Carcinoma 66
840 c LCL006 Localized Scleroderma 65
841 c PRC016 Pre-Eclampsia 61
842 TNS005 Tonsillitis 61
843 IRN002 Iron Metabolism Disease 60
844 ELL001 Ellis-Van Creveld Syndrome 60
845 SLP005 Sleep Disorder 60
846 c THR082 Thrombophilia Due to Activated Protein C Resistance 60
847 c ORF040 Orofaciodigital Syndrome Viii 60
848 CHL028 Childhood Type Dermatomyositis 59
849 P DST002 Distal Arthrogryposis 59
850 PRC002 Paracoccidioidomycosis 59
851 P ECL001 Eclampsia 59
852 P ALL008 Allergic Bronchopulmonary Aspergillosis 57
853 P THR015 Thrombophilia 56
854 c SVR005 Severe Pre-Eclampsia 55
855 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 55
856 c ORF037 Orofaciodigital Syndrome I 55
857 DFF035 Diffuse Cutaneous Systemic Sclerosis 54
858 c FML001 Familial Atrial Fibrillation 53
859 FTL009 Fetal Akinesia Deformation Sequence 53
860 c ART120 Arthrogryposis, Distal, Type 3 52
861 P ORF001 Orofaciodigital Syndrome 51
862 YLL001 Yellow Nail Syndrome 51
863 LMT001 Limited Scleroderma 51
864 c ART144 Arthrogryposis, Distal, Type 1a 50
865 LYM051 Lymphomatoid Granulomatosis 50
866 c ART119 Arthrogryposis, Distal, Type 5 50
867 IMM102 Immunodeficiency 14 49
868 c ORF034 Orofaciodigital Syndrome Vi 48
869 c ART061 Arthrogryposis, Distal, Type 2a 45
870 c LTH008 Lethal Congenital Contracture Syndrome 2 45
871 PLM068 Pulmonary Vein Stenosis 44
872 CHR466 Chronic Thromboembolic Pulmonary Hypertension 44
873 LRY029 Laryngomalacia 44
874 BRB001 Beriberi 43
875 GLN002 Glanders 43
876 LRG014 Large Cell Neuroendocrine Carcinoma 43
877 P PRN020 Paranasal Sinus Cancer 42
878 c ART146 Arthrogryposis, Distal, Type 9 41
879 STV003 Stuve-Wiedemann Syndrome 40
880 c LTH007 Lethal Congenital Contracture Syndrome 1 40
881 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 39
882 TRC097 Tracheomalacia 37
883 CTN013 Cutaneous Anthrax 36
884 PRN032 Paraneoplastic Cerebellar Degeneration 34
885 c ART147 Arthrogryposis, Distal, Type 7 34
886 c ORF035 Orofaciodigital Syndrome Iv 34
887 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 34
888 c PST106 Post-Cardiac Arrest Syndrome 33
889 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 32
890 LYM122 Lymphangiectasia, Pulmonary, Congenital 32
891 PTL001 Patulous Eustachian Tube 31
892 LRY011 Larynx Verrucous Carcinoma 31
893 MCP039 Mucoepithelial Dysplasia, Hereditary 30
894 LRY015 Laryngeal Benign Neoplasm 30
895 MXL004 Maxillary Sinus Squamous Cell Carcinoma 30
896 MGL033 Megalocornea-Mental Retardation Syndrome 29
897 SPR031 Sprengel Deformity 29
898 c ART112 Arthrogryposis, Distal, Type 10 29
899 P LTH003 Lethal Congenital Contracture Syndrome 29
900 c ORF043 Orofaciodigital Syndrome Ix 29
901 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 28
902 HRD083 Hereditary Antithrombin Deficiency 28
903 c ART104 Arthrogryposis, Distal, Type 5d 28
904 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 27
905 BLN004 Balantidiasis 27
906 c ORF046 Orofaciodigital Syndrome Xvi 27
907 c ORF033 Orofaciodigital Syndrome V 26
908 c LTH027 Lethal Congenital Contracture Syndrome 5 26
909 c ORF038 Orofaciodigital Syndrome Iii 25
910 c ORF041 Orofaciodigital Syndrome X 25
911 c ART122 Arthrogryposis, Distal, Type 8 25
912 c ORF042 Orofaciodigital Syndrome Xi 24
913 c LTH042 Lethal Congenital Contracture Syndrome 10 24
914 c ORF036 Orofaciodigital Syndrome Xiv 24
915 YNG002 Young Syndrome 24
916 c ORF051 Orofaciodigital Syndrome Xvii 24
917 c LTH031 Lethal Congenital Contracture Syndrome 6 23
918 c ART128 Arthrogryposis, Distal, Type 6 23
919 c ORF045 Orofaciodigital Syndrome Xv 23
920 c ORF052 Orofaciodigital Syndrome Xviii 23
921 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 23
922 c LTH047 Lethal Congenital Contracture Syndrome 3 23
923 c LTH039 Lethal Congenital Contracture Syndrome 11 23
924 c ART131 Arthrogryposis, Distal, Type 4 22
925 SPR021 Supraglottis Cancer 22
926 c LTH030 Lethal Congenital Contracture Syndrome 8 22
927 c LTH029 Lethal Congenital Contracture Syndrome 9 22
928 c LTH032 Lethal Congenital Contracture Syndrome 7 21
929 SPR023 Supraglottis Squamous Cell Carcinoma 20
930 c FML344 Familial Mediterranean Fever, Autosomal Dominant 19
931 c ART060 Arthrogryposis, Distal, Type 1b 19
932 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 19
933 c LTH026 Lethal Congenital Contracture Syndrome 4 18
934 c PRT045 Prothrombin-Related Thrombophilia 18
935 c NSP015 Nasopharyngeal Carcinoma 3 16
936 c THR023 Thrombophilia Due to Thrombomodulin Defect 16
937 c ART054 Arthrogryposis, Distal, Type 2e 16
938 c LRY009 Larynx Carcinoma in Situ 16
939 LRY020 Larynx Sarcoma 15
940 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
941 c NSP009 Nasopharyngeal Carcinoma 2 15
942 c ORF006 Orofaciodigital Syndrome 13 15
943 c ORF005 Orofaciodigital Syndrome 12 14
944 c ORF039 Orofaciodigital Syndrome Vii 14
945 FRN005 Frontal Sinus Squamous Cell Carcinoma 14
946 TRC017 Trachea Squamous Cell Carcinoma 14
947 CST006 Costocoracoid Ligament, Congenitally Short 14
948 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 13
949 LRY005 Laryngeal Small Cell Carcinoma 12
950 GLT004 Glottis Squamous Cell Carcinoma 12
951 LRY010 Laryngeal Adenoid Cystic Carcinoma 11
952 PRS125 Pura Syndrome 11
953 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 11
954 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 9
955 LRY003 Laryngeal Mucoepidermoid Carcinoma 9
956 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 9
957 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 9
958 SBG004 Subglottis Squamous Cell Carcinoma 8
959 LRY012 Laryngeal Cartilage Cancer 8
960 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
961 NSL005 Nasal Cavity Olfactory Neuroblastoma 7
962 c PRN030 Paranasal Sinus Cancer, Adult 4
963 P PLR004 Pleuropulmonary Blastoma 60
964 P JBR020 Joubert Syndrome 1 69
965 P PTT014 Pitt-Hopkins Syndrome 54
966 c PTT029 Pitt-Hopkins-Like Syndrome 1 35
967 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
968 c PTT042 Pitt-Hopkins-Like Syndrome 17
969 P SPN046 Spinal Muscular Atrophy 65
970 c SPN394 Spinal Muscular Atrophy, Type Iii 47
971 c SPN395 Spinal Muscular Atrophy, Type Ii 46
972 c JVN006 Juvenile Spinal Muscular Atrophy 40
973 c SPN398 Spinal Muscular Atrophy, Type Iv 36
974 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
975 P RTT002 Rett Syndrome 83
976 P INF038 Influenza 75
977 P DRM053 Dermatitis, Atopic 73
978 c TBR025 Tuberous Sclerosis 1 72
979 c TBR026 Tuberous Sclerosis 2 66
980 P THN009 Thanatophoric Dysplasia, Type I 65
981 P GLL022 Guillain-Barre Syndrome 64
982 P PTN014 Patent Ductus Arteriosus 1 62
983 CMM005 Common Cold 62
984 MXD005 Mixed Connective Tissue Disease 61
985 P LRY044 Larynx Cancer 60
986 LMB002 Lambert-Eaton Myasthenic Syndrome 58
987 P HYP097 Hyperekplexia 57
988 NRN004 Neuroendocrine Tumor 56
989 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 56
990 STR008 Strongyloidiasis 55
991 P CRY007 Cryoglobulinemia, Familial Mixed 55
992 ESN020 Eosinophilic Granulomatosis with Polyangiitis 54
993 c SPN393 Spinal Muscular Atrophy, Type I 53
994 c THN010 Thanatophoric Dysplasia, Type Ii 51
995 P FML068 Familial Hypocalciuric Hypercalcemia 50
996 LRY018 Laryngeal Squamous Cell Carcinoma 48
997 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 46
998 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
999 c DRM054 Dermatitis, Atopic, 2 35
1000 CHP002 Chops Syndrome 32
1001 c GLL037 Guillain-Barre Syndrome, Familial 30
1002 c HYP699 Hyperekplexia 1 29
1003 NCR015 Necrotizing Autoimmune Myopathy 24
1004 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 24
1005 c RTT008 Rett Syndrome, Congenital Variant 23
1006 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 23
1007 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
1008 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 21
1009 c HYP510 Hyperekplexia 2 20
1010 c HYP825 Hyperekplexia 4 19
1011 c HYP519 Hyperekplexia 3 18
1012 LRY013 Laryngeal Neuroendocrine Tumor 16
1013 c DRM055 Dermatitis, Atopic, 3 16
1014 c DRM057 Dermatitis, Atopic, 5 14
1015 c DRM059 Dermatitis, Atopic, 7 13
1016 c DRM058 Dermatitis, Atopic, 6 13
1017 c DRM060 Dermatitis, Atopic, 8 13
1018 c SPR097 Sporadic Hyperekplexia 13
1019 c DRM061 Dermatitis, Atopic, 9 13
1020 c DRM056 Dermatitis, Atopic, 4 12
1021 c INF136 Influenza, Severe 9
1022 c AMY091 Amyotrophic Lateral Sclerosis 1 90
1023 c AMY090 Amyotrophic Lateral Sclerosis 8 42
1024 c AMY069 Amyotrophic Lateral Sclerosis 21 42
1025 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
1026 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 39
1027 c AMY085 Amyotrophic Lateral Sclerosis 9 34
1028 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 34
1029 c AMY067 Amyotrophic Lateral Sclerosis 18 33
1030 c AMY059 Amyotrophic Lateral Sclerosis 19 32
1031 c AMY088 Amyotrophic Lateral Sclerosis 3 31
1032 c AMY083 Amyotrophic Lateral Sclerosis 11 31
1033 c AMY023 Amyotrophic Lateral Sclerosis Type 6 31
1034 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
1035 c AMY089 Amyotrophic Lateral Sclerosis 7 27
1036 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 27
1037 c AMY055 Amyotrophic Lateral Sclerosis 17 26
1038 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
1039 c AMY022 Amyotrophic Lateral Sclerosis Type 5 23
1040 c AMY063 Amyotrophic Lateral Sclerosis 20 23
1041 c AMY062 Amyotrophic Lateral Sclerosis 12 20
1042 c AMY112 Amyotrophic Lateral Sclerosis 25 19
1043 c AMY110 Amyotrophic Lateral Sclerosis 24 19
1044 c AMY108 Amyotrophic Lateral Sclerosis 23 18
1045 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
1046 c AMY109 Amyotrophic Lateral Sclerosis Type 22 11
1047 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 10
1048 P TBR001 Tuberous Sclerosis 69
1049 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 59
1050 P HYP061 Hypertrophic Cardiomyopathy 59
1051 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 45
1052 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 42
1053 TXC011 Toxocariasis 42
1054 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 36
1055 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 36
1056 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 33
1057 c CRD219 Cardiomyopathy, Infantile Hypertrophic 31
1058 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 23
1059 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 23
1060 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 22
1061 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 22
1062 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 21
1063 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 21
1064 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 21
1065 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
1066 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 20
1067 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 20
1068 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 20
1069 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 19
1070 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 19
1071 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 19
1072 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 19
1073 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 18
1074 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 18
1075 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 8



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