Respiratory Diseases Category (1352 diseases)


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

# Family MCID Name MIFTS
1 PRQ001 Paraquat Lung 17
2 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 7
3 P PLM037 Pulmonary Hypertension 69
4 c PLM127 Pulmonary Hypertension, Primary, 3 33
5 c PLM128 Pulmonary Hypertension, Primary, 2 29
6 c PLM121 Pulmonary Hypertension, Primary, 4 28
7 LBR003 Labrador Lung 14
8 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 11
9 c RRP017 Rare Pulmonary Hypertension 6
10 CYS044 Cystic Disease of Lung 28
11 LGN006 Legionnaire Disease 48
12 PRG008 Paragonimiasis 39
13 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 32
14 P SLP006 Sleep Apnea 71
15 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 18
16 CLB015 Colobomata Unilobar Lung Heart Defect 3
17 P PTN014 Patent Ductus Arteriosus 1 60
18 BRT055 Breath-Holding Spells 29
19 P ATR011 Atrial Fibrillation 67
20 SPR004 Supravalvular Aortic Stenosis 52
21 HST011 Histoplasmosis 52
22 c SPN330 Spondylocostal Dysostosis 5 49
23 c ATR092 Atrial Fibrillation, Familial, 15 28
24 c ATR038 Atrial Fibrillation, Familial, 3 26
25 c ATR059 Atrial Fibrillation, Familial, 11 24
26 c ATR035 Atrial Fibrillation, Familial, 6 24
27 c ATR061 Atrial Fibrillation, Familial, 10 24
28 c ATR037 Atrial Fibrillation, Familial, 7 23
29 c ATR072 Atrial Fibrillation, Familial, 13 23
30 c ATR026 Atrial Fibrillation, Familial, 1 21
31 c ATR068 Atrial Fibrillation, Familial, 14 21
32 c ATR069 Atrial Fibrillation, Familial, 12 21
33 c ATR085 Atrial Fibrillation, Familial, 18 21
34 c ATR039 Atrial Fibrillation, Familial, 4 20
35 c ATR070 Atrial Fibrillation, Familial, 9 18
36 c ATR027 Atrial Fibrillation, Familial, 5 15
37 c ATR025 Atrial Fibrillation, Familial, 2 13
38 GRH002 Graham Boyle Troxell Syndrome 13
39 c ATR028 Atrial Fibrillation, Familial, 8 13
40 c LNG086 Lung Cancer Susceptibility 5 12
41 SLC011 Silicosiderosis 9
42 MNV001 Manouvrier Syndrome 9
43 ELL004 Ellis Yale Winter Syndrome 7
44 APN008 Apnea, Obstructive Sleep 64
45 c CLR131 Ciliary Dyskinesia, Primary, 1 59
46 P PNC025 Panic Disorder 53
47 c CLR066 Ciliary Dyskinesia, Primary, 2 28
48 c CLR090 Ciliary Dyskinesia, Primary, 22 27
49 c CLR094 Ciliary Dyskinesia, Primary, 28 27
50 c CLR114 Ciliary Dyskinesia, Primary, 30 27
51 c CLR125 Ciliary Dyskinesia, Primary, 33 26
52 c CLR095 Ciliary Dyskinesia, Primary, 19 26
53 c CLR042 Ciliary Dyskinesia, Primary, 6 26
54 c CLR097 Ciliary Dyskinesia, Primary, 23 26
55 c CLR134 Ciliary Dyskinesia, Primary, 3 26
56 c CLR123 Ciliary Dyskinesia, Primary, 37 26
57 c CLR117 Ciliary Dyskinesia, Primary, 32 25
58 c CLR135 Ciliary Dyskinesia, Primary, 7 25
59 c CLR116 Ciliary Dyskinesia, Primary, 29 25
60 c CLR098 Ciliary Dyskinesia, Primary, 27 25
61 c CLR104 Ciliary Dyskinesia, Primary, 15 25
62 c CLR068 Ciliary Dyskinesia, Primary, 5 24
63 c CLR136 Ciliary Dyskinesia, Primary, 9 24
64 c CLR140 Ciliary Dyskinesia, Primary, 40 24
65 c CLR091 Ciliary Dyskinesia, Primary, 14 24
66 c CLR099 Ciliary Dyskinesia, Primary, 16 24
67 c CLR092 Ciliary Dyskinesia, Primary, 18 24
68 c CLR105 Ciliary Dyskinesia, Primary, 20 24
69 c CLR059 Ciliary Dyskinesia, Primary, 13 23
70 c CLR102 Ciliary Dyskinesia, Primary, 17 23
71 c CLR107 Ciliary Dyskinesia, Primary, 24 23
72 c CLR106 Ciliary Dyskinesia, Primary, 26 23
73 c CLR139 Ciliary Dyskinesia, Primary, 39 23
74 c CLR054 Ciliary Dyskinesia, Primary, 12 22
75 c CLR053 Ciliary Dyskinesia, Primary, 11 22
76 c CLR101 Ciliary Dyskinesia, Primary, 25 22
77 c CLR088 Ciliary Dyskinesia, Primary, 21 22
78 c CLR056 Ciliary Dyskinesia, Primary, 10 22
79 c CLR138 Ciliary Dyskinesia, Primary, 38 22
80 c CLR126 Ciliary Dyskinesia, Primary, 35 22
81 c CLR124 Ciliary Dyskinesia, Primary, 34 21
82 c PNC122 Panic Disorder 1 19
83 c CLR141 Ciliary Dyskinesia, Primary, 41 18
84 c CLR069 Ciliary Dyskinesia, Primary, 8 16
85 c CLR067 Ciliary Dyskinesia, Primary, 4 16
86 c PNC070 Panic Disorder 2 13
87 URT041 Urethral Obstruction Sequence 12
88 c PNC068 Panic Disorder 3 12
89 GRP001 Graphite Pneumoconiosis 11
90 c LNG065 Lung Cancer Susceptibility 4 11
91 GNT107 Genetic Interstitial Lung Disease 7
92 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
93 OBS498 Obsolete: Hiv-Related Lung Cancer 3
94 RRD032 Rare Disorder Potentially Indicated for Lung Transplant 3
95 OBS559 Obsolete: Graft Rejection After Lung Transplantation 3
96 P HRT032 Heart Disease 78
97 P CHR012 Chronic Granulomatous Disease 69
98 P ASP006 Aspergillosis 67
99 BLS001 Blau Syndrome 61
100 P PLY041 Polymyositis 57
101 PTN001 Patent Foramen Ovale 57
102 RSP006 Respiratory System Disease 57
103 HNC001 Henoch-Schoenlein Purpura 56
104 AVN001 Avian Influenza 56
105 P PLM034 Pulmonary Emphysema 55
106 P HST010 Histiocytosis 54
107 P LRY019 Laryngitis 53
108 ESN011 Eisenmenger Syndrome 52
109 c MLG054 Malignant Histiocytosis 51
110 MYC087 Mycoplasma Pneumoniae Pneumonia 50
111 PLR022 Pleural Disease 50
112 PLR001 Pleural Tuberculosis 50
113 c BCT013 Bacterial Pneumonia 49
114 c INV001 Invasive Aspergillosis 48
115 c CNT015 Central Sleep Apnea 48
116 CHN065 Choanal Atresia, Posterior 48
117 PLM035 Pulmonary Eosinophilia 47
118 STT002 Status Asthmaticus 47
119 ESN020 Eosinophilic Granulomatosis with Polyangiitis 47
120 ACT017 Acute Chest Syndrome 47
121 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 47
122 LRY017 Laryngeal Disease 47
123 MCC002 Mucocutaneous Leishmaniasis 45
124 PRN021 Paranasal Sinus Disease 44
125 ASP004 Asphyxia Neonatorum 44
126 UPP004 Upper Respiratory Tract Disease 44
127 SHR044 Short Rib-Polydactyly Syndrome 44
128 c MLG079 Malignant Pleural Mesothelioma 43
129 DPH021 Diaphragm Disease 43
130 P SDR002 Siderosis 42
131 P GLP001 Geleophysic Dysplasia 42
132 PLR005 Pleuropneumonia 42
133 ASP008 Aspiration Pneumonitis 41
134 ADN002 Adenoiditis 41
135 IDP074 Idiopathic Bronchiectasis 40
136 INT011 Interstitial Emphysema 39
137 P TRC005 Tracheal Stenosis 39
138 ANT039 Antisynthetase Syndrome 39
139 CHL147 Chlamydia Pneumonia 39
140 SWN001 Swine Influenza 38
141 NSP003 Nasopharyngeal Disease 38
142 c CHR057 Chronic Laryngitis 37
143 P MXL015 Maxillary Sinusitis 37
144 ETH009 Ethmoid Sinusitis 37
145 ADN067 Adenoid Hypertrophy 37
146 CPM001 Cap Myopathy 36
147 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 36
148 LTH001 Lethal Midline Granuloma 36
149 VSM001 Vasomotor Rhinitis 36
150 KLB003 Klebsiella Pneumonia 36
151 SCK001 Sick Building Syndrome 36
152 c ACT059 Acute Maxillary Sinusitis 35
153 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 35
154 TXC007 Toxic Pneumonitis 35
155 INT040 Intrinsic Asthma 34
156 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 34
157 BYS001 Byssinosis 34
158 c CHR038 Chronic Maxillary Sinusitis 34
159 BGS001 Bagassosis 34
160 EPG003 Epiglottitis 34
161 TBR009 Tuberculous Empyema 34
162 EMP011 Emphysema, Congenital Lobar 34
163 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
164 CGH001 Cough Variant Asthma 34
165 PLM007 Pulmonary Aspergilloma 33
166 LRY007 Laryngeal Tuberculosis 33
167 ATR003 Atrophic Rhinitis 33
168 c GLP003 Geleophysic Dysplasia 1 33
169 BRN133 Bronchomalacia 33
170 TRC020 Tracheitis 32
171 TRC035 Tracheal Agenesis 32
172 P FRN011 Frontal Sinusitis 31
173 CNG134 Congenitally Corrected Transposition of the Great Arteries 31
174 PLM052 Pulmonary Arteriovenous Malformation 31
175 c ACT072 Acute Laryngitis 30
176 c GLP004 Geleophysic Dysplasia 2 30
177 MXL016 Maxillonasal Dysplasia, Binder Type 30
178 NSL022 Nasal Cavity Disease 30
179 P IDP090 Idiopathic Eosinophilic Pneumonia 29
180 HMP003 Hemopneumothorax 29
181 SPH007 Sphenoid Sinusitis 29
182 LRY004 Laryngotracheitis 28
183 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 28
184 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 28
185 c CHR047 Chronic Ethmoiditis 28
186 PLS031 Plastic Bronchitis 28
187 DFF031 Diffuse Alveolar Hemorrhage 28
188 CMP003 Compensatory Emphysema 28
189 DFF002 Diffuse Pulmonary Fibrosis 27
190 PLM013 Pulmonary Immaturity 27
191 ADS001 Adiaspiromycosis 27
192 FBR028 Fibrosing Mediastinitis 26
193 ASB003 Asbestos Intoxication 26
194 ALV003 Alveoli Adenoma 26
195 c ACT035 Acute Frontal Sinusitis 26
196 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 26
197 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 26
198 BRN040 Bronchus Adenoma 25
199 HSH001 Hashimoto-Pritzker Syndrome 25
200 APN006 Apnea of Prematurity 24
201 ANT017 Anthracosilicosis 24
202 P TTR028 Tetraamelia Syndrome 1 24
203 c GLP007 Geleophysic Dysplasia 3 23
204 c CNG404 Congenital Heart Defects, Multiple Types, 4 23
205 P PLM064 Pulmonary Sequestration 23
206 INF043 Infantile Apnea 23
207 c CHR040 Chronic Frontal Sinusitis 23
208 c SCN051 Secondary Pulmonary Alveolar Proteinosis 23
209 PLR025 Pleuroparenchymal Fibroelastosis 22
210 MDD005 Middle Lobe Syndrome 22
211 c PTN013 Patent Ductus Arteriosus 2 22
212 c CNG520 Congenital Heart Defects, Multiple Types, 6 22
213 c CNG521 Congenital Heart Defects, Multiple Types, 5 21
214 TRC016 Tracheal Calcification 21
215 P ACT034 Acute Ethmoiditis 21
216 ACT016 Actinobacillosis 20
217 c CNG511 Congenital Heart Defects, Multiple Types, 2 20
218 c JVN046 Juvenile Polymyositis 20
219 c TTR029 Tetraamelia Syndrome 2 20
220 c CNG121 Congenital Pulmonary Alveolar Proteinosis 19
221 FRN004 Frontal Sinus Inverted Papilloma 19
222 THR033 Thoracomelic Dysplasia 18
223 SPN014 Spontaneous Tension Pneumothorax 18
224 DYS135 Dysphagia Lusoria 18
225 PLM108 Pulmonary Interstitial Glycogenosis 17
226 KMM002 Kommerell Diverticulum 17
227 ISL118 Isolated Tracheoesophageal Fistula 16
228 c CNG370 Congenital Tracheal Stenosis 16
229 END006 Endobronchial Lipoma 16
230 PST015 Postinflammatory Pulmonary Fibrosis 16
231 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
232 c PNM004 Pneumoconiosis Due to Talc 16
233 SLF002 Silo Filler's Disease 15
234 UVL006 Uvulitis 15
235 c CHR039 Chronic Sphenoidal Sinusitis 15
236 c CNG385 Congenital Heart Defects, Multiple Types, 3 15
237 PLR002 Pleural Lipoma 14
238 SPH005 Sphenoid Sinus Inverted Papilloma 14
239 DPH028 Diaphragmatic Flutter 14
240 c VRL001 Viral Laryngitis 14
241 P ACT061 Acute Sphenoidal Sinusitis 14
242 ISL036 Isolated Pulmonary Capillaritis 13
243 c MXD037 Mixed Cryoglobulinemia Type Iii 13
244 MXL005 Maxillary Sinus Inverted Papilloma 13
245 SBG002 Subglottic Angioma 13
246 TBR004 Tuberculous Pneumothorax 13
247 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 11
248 c CNG257 Congenital Pulmonary Sequestration 10
249 c PLR018 Pleuropulmonary Blastoma Type 1 10
250 c LCL003 Localized Pulmonary Fibrosis 10
251 ANR006 Anaerobic Pneumonia 9
252 ACT018 Acute Laryngopharyngitis 8
253 c EMP012 Emphysema, Hereditary Pulmonary 8
254 FRN001 Frontal Sinus Schneiderian Papilloma 8
255 c LRY051 Laryngotracheoesophageal Cleft Type 1 8
256 CNG564 Congenital Respiratory-Biliary Fistula 7
257 c SDR001 Siderosis of Eye 7
258 c PLR019 Pleuropulmonary Blastoma Type 2 7
259 EPT004 Epithelial Predominant Pulmonary Blastoma 6
260 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
261 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
262 INT186 Intralobar Congenital Pulmonary Sequestration 6
263 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 5
264 NRL003 Neurilemmoma of the Pleura 5
265 SLT003 Slate Pneumoconiosis 4
266 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
267 LNG084 Langerhans Cell Histiocytosis Specific to Childhood 4
268 PLM192 Pulmonary Hypertension with Unclear Multifactorial Mechanism 4
269 MXD022 Mixed Mineral Dust Pneumoconiosis 3
270 RSP025 Respiratory or Thoracic Malformation 2
271 CHL148 Childhood Lung Small Cell Carcinoma 15
272 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 28
273 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
274 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
275 TMR016 Tumor Suppressor Gene on Chromosome 11 29
276 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 36
277 c LNG109 Lung Cancer Susceptibility 1 27
278 NNS012 Non-Small Cell Lung Cancer, Childhood 3
279 DFC004 Deficiency Anemia 77
280 SRF006 Surfactant Dysfunction 36
281 c BSL007 Basal Cell Carcinoma 68
282 CRC006 Carcinoid Syndrome 55
283 P SML001 Small Cell Carcinoma 55
284 ECH003 Echinococcosis 54
285 TTL012 Total Anomalous Pulmonary Venous Return 1 49
286 c BSL024 Basal Cell Carcinoma 1 47
287 c LRG001 Large Cell Carcinoma 45
288 c BSL011 Basal Cell Carcinoma, Multiple 40
289 c CLL013 Cell Type Cancer 33
290 c BSL034 Basal Cell Carcinoma 7 24
291 c BSL027 Basal Cell Carcinoma 4 17
292 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 17
293 c BSL028 Basal Cell Carcinoma 5 14
294 c BSL025 Basal Cell Carcinoma 2 14
295 c BSL029 Basal Cell Carcinoma 6 14
296 c BSL026 Basal Cell Carcinoma 3 13
297 P JBR020 Joubert Syndrome 1 72
298 BRT054 Brittle Bone Disorder 71
299 MLD001 Melioidosis 66
300 P BRL012 Bare Lymphocyte Syndrome, Type Ii 66
301 P DRM010 Dermatomyositis 62
302 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 48
303 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 47
304 OBS037 Obesity-Hypoventilation Syndrome 46
305 P SMK004 Smoking As a Quantitative Trait Locus 3 46
306 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
307 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 45
308 c BRL011 Bare Lymphocyte Syndrome, Type I 44
309 P PLM025 Pulmonary Venoocclusive Disease 42
310 c JBR024 Joubert Syndrome 14 42
311 c JBR004 Joubert Syndrome 2 40
312 c JBR025 Joubert Syndrome 17 38
313 c JBR041 Joubert Syndrome 3 36
314 ESP029 Esophageal Atresia/tracheoesophageal Fistula 35
315 c JBR022 Joubert Syndrome 20 34
316 ALV006 Alveolar Capillary Dysplasia 33
317 c JBR012 Joubert Syndrome 5 32
318 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 32
319 c ADL027 Adult Dermatomyositis 31
320 c JBR014 Joubert Syndrome 9 30
321 c JBR042 Joubert Syndrome 23 29
322 c JBR031 Joubert Syndrome 21 29
323 c JBR013 Joubert Syndrome 8 28
324 c JBR011 Joubert Syndrome 7 27
325 c JBR039 Joubert Syndrome 28 27
326 c JBR030 Joubert Syndrome 22 26
327 c JBR018 Joubert Syndrome 4 26
328 c JBR027 Joubert Syndrome 16 25
329 c JBR021 Joubert Syndrome 18 25
330 c JBR036 Joubert Syndrome 25 25
331 c JBR043 Joubert Syndrome 32 25
332 c JBR035 Joubert Syndrome 24 25
333 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
334 c JBR040 Joubert Syndrome 30 24
335 c JBR045 Joubert Syndrome 33 24
336 c JBR037 Joubert Syndrome 26 24
337 c JBR028 Joubert Syndrome 13 23
338 c JBR047 Joubert Syndrome 35 23
339 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
340 c JBR038 Joubert Syndrome 27 22
341 c JBR044 Joubert Syndrome 31 22
342 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 20
343 ACT231 Acute Flaccid Myelitis 19
344 c SPN122 Spondylocostal Dysostosis 2 15
345 c SPN123 Spondylocostal Dysostosis 3 12
346 c SPN121 Spondylocostal Dysostosis 1 10
347 c SMK001 Smoking As a Quantitative Trait Locus 1 9
348 c SPN124 Spondylocostal Dysostosis 4 9
349 c SMK002 Smoking As a Quantitative Trait Locus 2 7
350 P RHM011 Rheumatoid Arthritis 82
351 PLM129 Pulmonary Disease, Chronic Obstructive 74
352 P PNM007 Pneumonia 71
353 BRN024 Bronchitis 70
354 c JVN010 Juvenile Rheumatoid Arthritis 67
355 c HRD010 Hereditary Spastic Paraplegia 67
356 P PLM036 Pulmonary Fibrosis 66
357 TKY002 Takayasu Arteritis 61
358 P BRN022 Bronchiectasis 60
359 P MYC008 Myocarditis 60
360 P CRN108 Cranioectodermal Dysplasia 1 60
361 BRN002 Bronchiolitis 60
362 P RHN004 Rhinitis 59
363 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
364 NWB001 Newborn Respiratory Distress Syndrome 58
365 RSP019 Respiratory Distress Syndrome in Premature Infants 58
366 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 57
367 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 56
368 PNM008 Pneumothorax 56
369 ALL006 Allergic Asthma 56
370 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 56
371 PHR003 Pharyngitis 56
372 PLM010 Pulmonary Edema 56
373 P PNM006 Pneumoconiosis 55
374 SLC006 Silicosis 55
375 P FTL069 Fetal Akinesia Deformation Sequence 1 55
376 c GCH017 Gaucher Disease, Type Iii 54
377 GDP001 Goodpasture Syndrome 54
378 CCC001 Coccidioidomycosis 54
379 IMM102 Immunodeficiency 14 54
380 P PRR016 Pierre Robin Syndrome 53
381 BRN038 Bronchial Disease 53
382 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 51
383 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
384 P PLM006 Pulmonary Alveolar Proteinosis 50
385 P ESN008 Eosinophilic Pneumonia 50
386 MLT134 Multiple Pterygium Syndrome, Lethal Type 50
387 PLR008 Pleurisy 50
388 c ACH033 Achondrogenesis, Type Ia 48
389 RCR004 Recurrent Respiratory Papillomatosis 48
390 c PNT034 Pontocerebellar Hypoplasia, Type 2e 47
391 BRN014 Bronchopneumonia 47
392 P MRC003 Mercury Poisoning 47
393 LYM051 Lymphomatoid Granulomatosis 47
394 ANT018 Anthracosis 46
395 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 46
396 ASP007 Aspiration Pneumonia 46
397 c CHR037 Chronic Eosinophilic Pneumonia 46
398 NNS002 Nonspecific Interstitial Pneumonia 45
399 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 45
400 c ACT076 Acute Myocarditis 45
401 NSD001 Nose Disease 45
402 P ACH011 Achondrogenesis 44
403 PLR007 Pleural Empyema 44
404 ASB001 Asbestosis 44
405 c ACH042 Achondrogenesis, Type Ib 44
406 c PNT049 Pontocerebellar Hypoplasia, Type 2d 44
407 c JBR015 Joubert Syndrome 6 43
408 MYC013 Mycobacterium Abscessus 42
409 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 42
410 c CHR576 Chronic Beryllium Disease 42
411 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
412 c SPS098 Spastic Paraplegia 30, Autosomal Recessive 42
413 c VRL005 Viral Pneumonia 42
414 c PNT037 Pontocerebellar Hypoplasia, Type 3 42
415 c CHR048 Chronic Rhinitis 42
416 c PNT010 Pontocerebellar Hypoplasia Type 1 42
417 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 42
418 CHR466 Chronic Thromboembolic Pulmonary Hypertension 41
419 NNT049 Nontuberculous Mycobacterial Lung Disease 41
420 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 41
421 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
422 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 41
423 NSP002 Nasopharyngitis 41
424 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 41
425 LNG095 Lung Abscess 41
426 BRY001 Berylliosis 41
427 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 41
428 BRD003 Bird Fancier's Lung 41
429 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 40
430 P BRY005 Beryllium Disease 40
431 INH001 Inhalation Anthrax 40
432 FRM003 Farmer's Lung 40
433 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 39
434 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 39
435 P PNT019 Pontocerebellar Hypoplasia 39
436 PSR016 Psoriatic Juvenile Idiopathic Arthritis 39
437 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
438 LNG030 Lung Adenoma 39
439 CHY005 Chylothorax, Congenital 39
440 c ATL015 Atelosteogenesis, Type Ii 38
441 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 38
442 ESN017 Eosinophilic Granuloma 38
443 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 38
444 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 38
445 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
446 STR103 Streptococcus Pneumonia 37
447 PNB004 Panbronchiolitis, Diffuse 37
448 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 37
449 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 37
450 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 37
451 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 37
452 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 36
453 c ATM022 Autoimmune Myocarditis 36
454 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 36
455 HYP015 Hyperlucent Lung 36
456 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 36
457 P TRC024 Trachea Carcinoma 36
458 NSL006 Nasal Cavity Squamous Cell Carcinoma 36
459 TRC025 Tracheal Cancer 35
460 c PNT043 Pontocerebellar Hypoplasia, Type 4 35
461 LPD001 Lipid Pneumonia 35
462 PLM018 Pulmonary Sclerosing Hemangioma 35
463 c ATL011 Atelosteogenesis, Type I 35
464 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 35
465 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 35
466 c SPS021 Spastic Paraplegia 10 35
467 SPR006 Sparganosis 34
468 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 34
469 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
470 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 34
471 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 34
472 RSP005 Respiratory System Cancer 34
473 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 34
474 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 34
475 PLM180 Pulmonary Artery Disease 33
476 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 33
477 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
478 c CRN109 Cranioectodermal Dysplasia 2 33
479 NNT004 Neonatal Respiratory Failure 33
480 P ATL001 Atelosteogenesis 33
481 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 33
482 c ATL012 Atelosteogenesis, Type Iii 33
483 c FTL070 Fetal Akinesia Deformation Sequence 2 33
484 c PNT032 Pontocerebellar Hypoplasia, Type 9 32
485 NSL003 Nasal Cavity Adenocarcinoma 32
486 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 32
487 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 32
488 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 31
489 c SPS025 Spastic Paraplegia 15 31
490 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 31
491 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 31
492 c SPS036 Spastic Paraplegia 3 31
493 DRF001 Dirofilariasis 31
494 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 30
495 ETH001 Ethmoid Sinus Adenocarcinoma 30
496 c SPS013 Spastic Paraplegia 8 30
497 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
498 c PNT039 Pontocerebellar Hypoplasia, Type 7 30
499 CPL004 Caplan's Syndrome 30
500 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
501 c JBR026 Joubert Syndrome 15 30
502 HRD083 Hereditary Antithrombin Deficiency 30
503 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30
504 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 30
505 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 29
506 c SPS091 Spastic Paraplegia 4 29
507 BLN004 Balantidiasis 29
508 c JBR016 Joubert Syndrome 10 28
509 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 28
510 INS022 in Situ Pulmonary Adenocarcinoma 28
511 c PNT033 Pontocerebellar Hypoplasia, Type 10 28
512 BRN055 Bronchogenic Cyst 28
513 c PNT035 Pontocerebellar Hypoplasia, Type 1c 28
514 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 28
515 TRC038 Tracheobronchomegaly 28
516 BRN137 Bronchial Neuroendocrine Tumor 28
517 c SPS039 Spastic Paraplegia 5a 28
518 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 28
519 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 28
520 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 27
521 CHL079 Children's Interstitial Lung Disease 27
522 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
523 CPL001 Capillariasis 27
524 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 27
525 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 27
526 CRK001 Cork-Handlers' Disease 27
527 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 27
528 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 27
529 LRY002 Laryngostenosis 27
530 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 27
531 c PNT047 Pontocerebellar Hypoplasia, Type 2b 26
532 c CRN111 Cranioectodermal Dysplasia 4 26
533 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 26
534 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 26
535 P SPS012 Spastic Paraplegia 3a 26
536 c SPS041 Spastic Paraplegia 6 26
537 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
538 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 26
539 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
540 c SPS092 Spastic Paraplegia 11 26
541 c CRN110 Cranioectodermal Dysplasia 3 26
542 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 25
543 RGH006 Right Aortic Arch 25
544 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 25
545 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
546 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 25
547 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 25
548 TRC110 Tracheobronchial Stenosis, Congenital 25
549 STR029 Sternal Cleft 25
550 PNM002 Pneumonic Tularemia 25
551 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
552 c PLM044 Pulmonary Fibrosis, Familial 24
553 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 24
554 RSP004 Respiratory System Benign Neoplasm 24
555 c ADL080 Adult Acute Respiratory Distress Syndrome 24
556 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 24
557 c SPS027 Spastic Paraplegia 17 24
558 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 23
559 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 23
560 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 23
561 LFF002 Loeffler Syndrome 23
562 MNR004 Mounier-Kuhn Syndrome 23
563 c FTL071 Fetal Akinesia Deformation Sequence 3 23
564 c PNT030 Pontocerebellar Hypoplasia, Type 8 23
565 VNT001 Ventilation Pneumonitis 23
566 c SPS020 Spastic Paraplegia 1 22
567 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
568 ATR024 Atrial Fibrillation and Stroke 22
569 LRY028 Laryngocele 22
570 FCT013 Factor V Leiden Thrombophilia 22
571 c SPS042 Spastic Paraplegia 9 22
572 TRC001 Trachea Leiomyoma 22
573 LM2001 Lama2-Related Muscular Dystrophy 21
574 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 21
575 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 21
576 LYM001 Lymphohistiocytoid Mesothelioma 21
577 c SPS023 Spastic Paraplegia 13 21
578 CRT060 Cor Triatriatum Sinister 21
579 PLL005 Pallister-Killian Mosaic Syndrome 21
580 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 21
581 PLM015 Pulmonary Systemic Sclerosis 20
582 c HRD186 Hereditary Spastic Paraplegia 51 20
583 UNL013 Unilateral Absence of a Pulmonary Artery 20
584 WTB001 Wet Beriberi 20
585 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 20
586 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
587 c SPS037 Spastic Paraplegia 31 20
588 c FTL072 Fetal Akinesia Deformation Sequence 4 20
589 c SPS038 Spastic Paraplegia 39 19
590 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 19
591 c HRD188 Hereditary Spastic Paraplegia 72 19
592 c SPS022 Spastic Paraplegia 12 19
593 c SPS028 Spastic Paraplegia 18 18
594 SWY003 Swyer-James Syndrome 18
595 PRM133 Primary Pulmonary Lymphoma 18
596 P BNG022 Benign Pleural Mesothelioma 18
597 FRN010 Frontal Sinus Neoplasm 18
598 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 18
599 c SPS034 Spastic Paraplegia 26 18
600 CLS002 Classic Pulmonary Blastoma 18
601 c INF055 Infectious Myocarditis 17
602 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
603 CNG243 Congenital Subglottic Stenosis 16
604 BRT013 Baritosis 16
605 c SPS032 Spastic Paraplegia 24 15
606 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 15
607 THR122 Thoracic Malformation 15
608 KLN003 Kaolin Pneumoconiosis 14
609 c HRD210 Hereditary Spastic Paraplegia 23 14
610 CHR468 Chronic Pneumonitis of Infancy 14
611 c SPS029 Spastic Paraplegia 19 14
612 c BRN144 Bronchiectasis 2 14
613 MNB001 Main Bronchus Cancer 13
614 HNR001 Heiner Syndrome 13
615 EPG002 Epiglottis Cancer 13
616 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 13
617 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 13
618 c SPS035 Spastic Paraplegia 29 13
619 TRC019 Trachea Sarcoma 13
620 c SPS161 Spastic Paraplegia 32 13
621 c SPS033 Spastic Paraplegia 25 13
622 c SPS080 Spastic Paraplegia 51 12
623 c SPS024 Spastic Paraplegia 14 12
624 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 12
625 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 12
626 c INF119 Infantile Mercury Poisoning 12
627 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 12
628 END019 Endobronchial Leiomyoma 12
629 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 12
630 c SPS165 Spastic Paraplegia 47 12
631 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 12
632 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 12
633 c SPS230 Spastic Paraplegia Type 49 11
634 MLT013 Malt Worker's Lung 11
635 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 11
636 c TRC002 Trachea Carcinoma in Situ 11
637 c SPS026 Spastic Paraplegia 16 11
638 MSH001 Mushroom Workers' Lung 11
639 c BRN143 Bronchiectasis 1 11
640 c RRD018 Rare Disease with Pierre Robin Syndrome 10
641 MXL007 Maxillary Sinus Cholesteatoma 10
642 c SCN047 Secondary Pulmonary Hemosiderosis 10
643 ACT227 Acute Respiratory Coronavirus Infection 10
644 ETH006 Ethmoid Sinus Inverted Papilloma 10
645 c BRN145 Bronchiectasis 3 10
646 c NSL007 Nasal Cavity Carcinoma in Situ 10
647 LRY008 Larynx Liposarcoma 9
648 PRP011 Puerperal Pulmonary Embolism 9
649 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
650 MXL003 Maxillary Sinus Schneiderian Papilloma 9
651 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 9
652 c PLR020 Pleuropulmonary Blastoma Type 3 8
653 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 8
654 SPR015 Supraglottis Verrucous Carcinoma 8
655 SPH009 Sphenoidal Sinus Neoplasm 8
656 SPH008 Sphenoidal Sinus Cancer 8
657 NSL001 Nasal Cavity Inverting Papilloma 7
658 NSL002 Nasal Vestibule Papilloma 7
659 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 7
660 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
661 c SPS040 Spastic Paraplegia 5b 7
662 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
663 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
664 PRN003 Paranasal Sinus Sarcoma 7
665 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
666 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 6
667 STP010 Staphylococcal Necrotizing Pneumonia 6
668 OCC014 Occupational Allergic Alveolitis 6
669 16Q002 16q24.1 Microdeletion Syndrome 6
670 RSP022 Respiratory Malformation 5
671 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
672 HSL001 House Allergic Alveolitis 4
673 MRP005 Meropenem Allergy 4
674 ISC018 Isocyanates Allergic Asthma 4
675 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
676 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 4
677 NCK003 Nickel Allergic Asthma 4
678 MLC007 Maleic Anhydride Allergic Asthma 4
679 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
680 CBL010 Cobalt Allergic Asthma 4
681 ETH007 Ethmoid Sinus Ectopic Meningioma 4
682 SCN078 Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease 4
683 LNG083 Langerhans Cell Histiocytosis in Childhood and Adulthood 4
684 LNG085 Langerhans Cell Histiocytosis Specific to Adulthood 4
685 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
686 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
687 RRB010 Rare Bronchopulmonary Tumor 3
688 SYN108 Syndrome with Pulmonary Hypertension As a Major Feature 2
689 c SPN225 Spondyloarthropathy 1 74
690 P HYP061 Hypertrophic Cardiomyopathy 68
691 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68
692 P SPN052 Spondyloarthropathy 54
693 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 48
694 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 43
695 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 42
696 CHP002 Chops Syndrome 41
697 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 39
698 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 37
699 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 32
700 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 30
701 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 29
702 c CRD219 Cardiomyopathy, Infantile Hypertrophic 29
703 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 29
704 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 28
705 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 28
706 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 28
707 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 27
708 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 27
709 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 27
710 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 26
711 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 26
712 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 26
713 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 25
714 c JVN047 Juvenile Spondyloarthropathy 24
715 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 24
716 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
717 c SPN226 Spondyloarthropathy 2 16
718 c SPN256 Spondyloarthropathy 3 14
719 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
720 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 5
721 P LNG032 Lung Cancer 99
722 AST005 Asthma 80
723 c ART115 Aortic Valve Disease 1 76
724 PLM001 Pulmonary Tuberculosis 72
725 P BRG001 Brugada Syndrome 70
726 c ART101 Aortic Valve Disease 2 67
727 WLF001 Wolff-Parkinson-White Syndrome 65
728 IDP011 Idiopathic Interstitial Pneumonia 65
729 TBC004 Tobacco Addiction 65
730 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 64
731 P GCH001 Gaucher's Disease 63
732 LNG099 Lung Disease 62
733 P HYP097 Hyperekplexia 61
734 PNM010 Pneumothorax, Primary Spontaneous 60
735 PLM033 Pulmonary Embolism 60
736 P THN009 Thanatophoric Dysplasia, Type I 59
737 NRN004 Neuroendocrine Tumor 59
738 c GCH016 Gaucher Disease, Type Ii 59
739 P END033 Endocarditis 58
740 P SLP005 Sleep Disorder 58
741 TNS005 Tonsillitis 58
742 BRN056 Bronchopulmonary Dysplasia 57
743 BRN015 Bronchiolo-Alveolar Adenocarcinoma 56
744 BRN012 Bronchiolitis Obliterans 55
745 PLM012 Pulmonary Sarcoidosis 54
746 FDL002 Food Allergy 52
747 ADN089 Adenosquamous Lung Carcinoma 52
748 MLL018 Miller-Dieker Lissencephaly Syndrome 50
749 P FML068 Familial Hypocalciuric Hypercalcemia 50
750 c BRG005 Brugada Syndrome 1 50
751 ALV002 Alveolar Echinococcosis 50
752 P LNG035 Lung Large Cell Carcinoma 50
753 P ALL008 Allergic Bronchopulmonary Aspergillosis 50
754 LNG017 Lung Giant Cell Carcinoma 50
755 PLM032 Pulmonary Blastoma 49
756 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 49
757 P ART018 Aortic Valve Insufficiency 47
758 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46
759 CRY001 Cryptogenic Organizing Pneumonia 46
760 HRT015 Heritable Pulmonary Arterial Hypertension 46
761 EXT033 Extrapulmonary Tuberculosis 46
762 LYM004 Lymphoid Interstitial Pneumonia 46
763 ACT029 Acute Interstitial Pneumonia 46
764 TBR006 Tuberculoid Leprosy 45
765 STV003 Stuve-Wiedemann Syndrome 44
766 c THN010 Thanatophoric Dysplasia, Type Ii 44
767 TRN044 Transposition of the Great Arteries 44
768 ANC002 Anca-Associated Vasculitis 43
769 P NSL008 Nasal Cavity Cancer 43
770 ACT055 Actinomycosis 43
771 P PLM085 Pulmonary Hemosiderosis 43
772 LRG014 Large Cell Neuroendocrine Carcinoma 41
773 P SCL057 Scoliosis, Isolated 1 41
774 P BRB001 Beriberi 41
775 PLM068 Pulmonary Vein Stenosis 40
776 PNM005 Pneumonic Plague 40
777 c HYP699 Hyperekplexia 1 40
778 ORN001 Ornithosis 40
779 P PRN020 Paranasal Sinus Cancer 39
780 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 39
781 c BRG007 Brugada Syndrome 5 38
782 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 37
783 ABD010 Abdominal Wall Defect 37
784 SCH010 Schneiderian Carcinoma 36
785 MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 36
786 P SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 35
787 ANT002 Anti-Basement Membrane Glomerulonephritis 34
788 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 34
789 LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 34
790 PTT002 Potter's Syndrome 34
791 c SBC003 Subacute Bacterial Endocarditis 33
792 BRN039 Bronchial Neoplasm 33
793 c BRG006 Brugada Syndrome 2 32
794 c GCH013 Gaucher Disease, Type Iiic 32
795 LNG091 Lung Mucoepidermoid Carcinoma 31
796 PRT045 Prothrombin-Related Thrombophilia 31
797 EPT003 Epithelioid Trophoblastic Tumor 31
798 PLM028 Pulmonary Coin Lesion 31
799 MXL008 Maxillary Sinus Cancer 31
800 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 31
801 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 31
802 SPR022 Supraglottis Neoplasm 30
803 LNG016 Lung Papillary Adenocarcinoma 30
804 MXL004 Maxillary Sinus Squamous Cell Carcinoma 29
805 SPR031 Sprengel Deformity 29
806 LNG036 Lung Leiomyoma 29
807 HYL005 Hyaline Body Myopathy 29
808 c BRG003 Brugada Syndrome 3 28
809 NSL010 Nasal Cavity Neoplasm 28
810 TRC115 Tracheopathia Osteoplastica 28
811 c BRG010 Brugada Syndrome 8 27
812 c BRG004 Brugada Syndrome 4 27
813 c PTN012 Patent Ductus Arteriosus 3 26
814 MGL033 Megalocornea-Mental Retardation Syndrome 26
815 c BRG009 Brugada Syndrome 7 26
816 ETH008 Ethmoid Sinus Cancer 26
817 TRC014 Trachea Adenoid Cystic Carcinoma 24
818 ADL082 Adult Pulmonary Langerhans Cell Histiocytosis 24
819 c BRG012 Brugada Syndrome 9 24
820 PTL001 Patulous Eustachian Tube 24
821 c HYP510 Hyperekplexia 2 24
822 HMN012 Hemangioma of Lung 24
823 NSL004 Nasal Cavity Lymphoma 23
824 c LNG003 Lung Carcinoma in Situ 23
825 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
826 c HYP519 Hyperekplexia 3 22
827 SPR023 Supraglottis Squamous Cell Carcinoma 22
828 c HYP825 Hyperekplexia 4 22
829 c BRG008 Brugada Syndrome 6 22
830 P SNS011 Sinus Cancer 22
831 SBG001 Subglottis Neoplasm 22
832 SLD013 Solid Adenocarcinoma with Mucin Production 20
833 SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 19
834 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 18
835 TRC018 Tracheal Lymphoma 18
836 c DRY002 Dry Beriberi 18
837 c SCL049 Scoliosis, Isolated 3 18
838 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 18
839 c ART159 Aortic Valve Disease 3 17
840 CRV066 Cervical Aortic Arch 17
841 ALM003 Aluminosis 17
842 PLM002 Pulmonary Plasma Cell Granuloma 16
843 IDP075 Idiopathic and/or Familial Pulmonary Arterial Hypertension 16
844 PRN002 Paranasal Sinus Lymphoma 15
845 GLT004 Glottis Squamous Cell Carcinoma 15
846 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 15
847 FRN005 Frontal Sinus Squamous Cell Carcinoma 15
848 RRP031 Rare Pulmonary Disease 14
849 c CNG346 Congenital Aortic Valve Insufficiency 14
850 MXL006 Maxillary Sinus Adenocarcinoma 13
851 c LNG006 Lung Occult Large Cell Carcinoma 13
852 CST006 Costocoracoid Ligament, Congenitally Short 13
853 c FRN009 Frontal Sinus Cancer 13
854 MPL002 Maple Bark Strippers' Lung 13
855 MXL009 Maxillary Sinus Neoplasm 13
856 c SPR097 Sporadic Hyperekplexia 13
857 P CNG396 Congenital Pulmonary Airway Malformation Type 2 13
858 TRC017 Trachea Squamous Cell Carcinoma 12
859 c SCL058 Scoliosis, Isolated 2 12
860 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
861 P LRY049 Laryngotracheoesophageal Cleft Type 4 12
862 c CNG397 Congenital Pulmonary Airway Malformation Type 3 12
863 c PSD023 Pseudo-Gaucher Disease 12
864 PLM190 Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia 11
865 c RRS011 Rare Sleep Disorder 11
866 LNG110 Lung Mucinous Cystadenocarcinoma 11
867 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 10
868 c SCL059 Scoliosis, Isolated 4 10
869 c SCL060 Scoliosis, Isolated 5 10
870 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 10
871 c LRY009 Larynx Carcinoma in Situ 10
872 LRY001 Larynx Leiomyoma 10
873 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
874 SBG004 Subglottis Squamous Cell Carcinoma 10
875 EPG001 Epiglottis Neoplasm 10
876 c CNG405 Congenital Pulmonary Airway Malformation Type 4 9
877 c CNG398 Congenital Pulmonary Airway Malformation Type 1 9
878 TRN052 Transient Hyperammonemia of the Newborn 8
879 P INT354 Interstitial Lung Disease Specific to Childhood 8
880 HLR001 Hilar Lung Neoplasm 8
881 GLT003 Glottis Verrucous Carcinoma 8
882 SBG003 Subglottis Verrucous Carcinoma 8
883 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
884 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
885 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
886 GLT001 Glottis Neoplasm 7
887 LRY006 Larynx Squamous Papilloma 7
888 ETH010 Ethmoidal Sinus Neoplasm 7
889 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 7
890 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 7
891 INT351 Interstitial Lung Disease Specific to Infancy 6
892 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
893 P INT352 Interstitial Lung Disease Specific to Adulthood 6
894 EXT047 Extralobar Congenital Pulmonary Sequestration 6
895 RRR009 Rare Respiratory Tumor 6
896 c BRN001 Bronchus Carcinoma in Situ 5
897 BRN010 Bronchial Mucus Gland Adenoma 5
898 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 5
899 EXP006 Exposure-Related Interstitial Lung Disease 5
900 SPR139 Superior Celosomia 5
901 LNG010 Lung Clear Cell-Sugar-Tumor 5
902 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
903 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
904 MTH085 Methyl Isocyanate Allergic Asthma 4
905 TRM027 Trimellitic Anhydride Allergic Asthma 4
906 SCN072 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease 4
907 SCN073 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease 4
908 SCN074 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease 4
909 SCN076 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease 4
910 c PRM307 Primary Interstitial Lung Disease Specific to Adulthood 4
911 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
912 PHT014 Phthalic Anhydride Allergic Asthma 3
913 c PRN030 Paranasal Sinus Cancer, Adult 3
914 RSP021 Respiratory Allergy 45
915 c AMY091 Amyotrophic Lateral Sclerosis 1 88
916 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 40
917 c AMY069 Amyotrophic Lateral Sclerosis 21 40
918 c AMY090 Amyotrophic Lateral Sclerosis 8 39
919 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 38
920 c AMY085 Amyotrophic Lateral Sclerosis 9 37
921 c AMY088 Amyotrophic Lateral Sclerosis 3 36
922 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 35
923 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 35
924 c AMY083 Amyotrophic Lateral Sclerosis 11 34
925 c AMY059 Amyotrophic Lateral Sclerosis 19 32
926 c AMY067 Amyotrophic Lateral Sclerosis 18 31
927 c AMY089 Amyotrophic Lateral Sclerosis 7 30
928 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
929 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 28
930 c AMY055 Amyotrophic Lateral Sclerosis 17 28
931 c AMY022 Amyotrophic Lateral Sclerosis Type 5 27
932 c AMY062 Amyotrophic Lateral Sclerosis 12 25
933 c AMY063 Amyotrophic Lateral Sclerosis 20 23
934 c AMY112 Amyotrophic Lateral Sclerosis 25 22
935 c AMY110 Amyotrophic Lateral Sclerosis 24 22
936 c AMY074 Amyotrophic Lateral Sclerosis Type 14 22
937 c AMY108 Amyotrophic Lateral Sclerosis 23 21
938 c AMY079 Amyotrophic Lateral Sclerosis Type 15 14
939 c AMY109 Amyotrophic Lateral Sclerosis Type 22 10
940 P RTT002 Rett Syndrome 81
941 BTN003 Biotinidase Deficiency 56
942 LMB002 Lambert-Eaton Myasthenic Syndrome 55
943 c RTT008 Rett Syndrome, Congenital Variant 28
944 CYS001 Cystic Fibrosis 84
945 c DLT002 Dilated Cardiomyopathy 81
946 P RSP003 Respiratory Failure 75
947 P SRC025 Sarcoidosis 1 72
948 P CRD119 Cardiac Arrest 71
949 P TTR001 Tetralogy of Fallot 70
950 c FML001 Familial Atrial Fibrillation 67
951 P NSP012 Nasopharyngeal Carcinoma 67
952 P LPR021 Leprosy 3 67
953 P SPN046 Spinal Muscular Atrophy 65
954 c MCP001 Mucopolysaccharidosis Iii 64
955 c MCP050 Mucopolysaccharidosis, Type Ii 63
956 ALP103 Alpha-1-Antitrypsin Deficiency 63
957 P HYP055 Hypoplastic Left Heart Syndrome 63
958 P MCP040 Mucopolysaccharidosis-Plus Syndrome 62
959 INT066 Interstitial Lung Disease 61
960 c MCP047 Mucopolysaccharidosis, Type Iva 61
961 c MCP052 Mucopolysaccharidosis, Type Vi 61
962 P ADL010 Adult Respiratory Distress Syndrome 61
963 GLY010 Glycine Encephalopathy 61
964 c MCP049 Mucopolysaccharidosis, Type Vii 60
965 c ACT210 Acute Respiratory Distress Syndrome 59
966 c MST023 Mesothelioma, Malignant 59
967 P LRY044 Larynx Cancer 59
968 TMR010 Tumor Predisposition Syndrome 58
969 IRN002 Iron Metabolism Disease 58
970 CMM005 Common Cold 57
971 c SVR001 Severe Acute Respiratory Syndrome 56
972 c CRD099 Cardiomyopathy, Dilated, 1e 56
973 CHL028 Childhood Type Dermatomyositis 55
974 c MCP043 Mucopolysaccharidosis, Type Iiia 54
975 P CNT004 Centronuclear Myopathy 53
976 PNM001 Pneumocystosis 53
977 c SPN393 Spinal Muscular Atrophy, Type I 53
978 MCN007 Meconium Aspiration Syndrome 53
979 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
980 LNG031 Lung Benign Neoplasm 52
981 c SPN394 Spinal Muscular Atrophy, Type Iii 49
982 HNT002 Hantavirus Pulmonary Syndrome 48
983 c MCP044 Mucopolysaccharidosis, Type Iiib 47
984 P BNG032 Benign Mesothelioma 47
985 c SPN395 Spinal Muscular Atrophy, Type Ii 47
986 YLL001 Yellow Nail Syndrome 47
987 c CRD097 Cardiomyopathy, Dilated, 1d 46
988 LNG011 Lung Adenoid Cystic Carcinoma 45
989 c CRD187 Cardiomyopathy, Dilated, 3b 45
990 P BRN120 Bronchus Cancer 45
991 LRY018 Laryngeal Squamous Cell Carcinoma 44
992 SHR098 Short-Rib Thoracic Dysplasia 12 44
993 c MYP123 Myopathy, Centronuclear, 1 44
994 c SRC023 Sarcoidosis 2 43
995 LNG020 Lung Oat Cell Carcinoma 43
996 P RRC004 Rare Cardiomyopathy 43
997 c CRD093 Cardiomyopathy, Dilated, 1a 43
998 c CRD233 Cardiomyopathy, Dilated, 1b 43
999 c MYP131 Myopathy, Centronuclear, 2 42
1000 INT304 Interstitial Pneumonitis, Desquamative, Familial 42
1001 PHH001 Phaeohyphomycosis 42
1002 SCR015 Scarlet Fever 41
1003 c HYP543 Hypoplastic Left Heart Syndrome 1 41
1004 c SPN398 Spinal Muscular Atrophy, Type Iv 40
1005 NRS005 Neurosarcoidosis 39
1006 c MCP045 Mucopolysaccharidosis, Type Iiic 39
1007 c CRD105 Cardiomyopathy, Dilated, 1o 39
1008 c MCP051 Mucopolysaccharidosis, Type Ix 38
1009 MTT002 Metatropic Dysplasia 38
1010 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 38
1011 LNG013 Lung Lymphoma 38
1012 TRC097 Tracheomalacia 38
1013 CRP002 Croup 38
1014 SHR120 Short Rib-Polydactyly Syndrome, Majewski Type 37
1015 CTN013 Cutaneous Anthrax 37
1016 c LPR022 Leprosy 2 37
1017 c MCP048 Mucopolysaccharidosis, Type Ivb 37
1018 LTT002 Letterer-Siwe Disease 36
1019 LNG037 Lung Sarcoma 35
1020 c MCP046 Mucopolysaccharidosis, Type Iiid 34
1021 CYS021 Cystic Adenomatoid Malformation of Lung 33
1022 c CRD104 Cardiomyopathy, Dilated, 1p 33
1023 BRD005 Borderline Leprosy 33
1024 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 33
1025 c CRD155 Cardiomyopathy, Dilated, 1kk 32
1026 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 32
1027 c CRD102 Cardiomyopathy, Dilated, 1j 32
1028 LNG019 Lung Combined Type Small Cell Carcinoma 32
1029 ASB002 Asbestos-Related Lung Carcinoma 32
1030 c PST106 Post-Cardiac Arrest Syndrome 31
1031 PLM039 Pulmonary Neuroendocrine Tumor 31
1032 c CRD069 Cardiomyopathy, Dilated, 1h 31
1033 P PLM182 Pulmonary Hypoplasia, Primary 30
1034 c CRD080 Cardiomyopathy, Dilated, 1g 29
1035 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 29
1036 MCN023 Mucinous Lung Adenocarcinoma 29
1037 PRN032 Paraneoplastic Cerebellar Degeneration 29
1038 CLF051 Cleft Larynx, Posterior 29
1039 LNG009 Lung Meningioma 28
1040 LRY011 Larynx Verrucous Carcinoma 28
1041 c CRD107 Cardiomyopathy, Dilated, 1r 28
1042 THR032 Thoracolaryngopelvic Dysplasia 27
1043 c ATM102 Autoimmune Cardiomyopathy 27
1044 c MYP098 Myopathy, Centronuclear, 4 26
1045 SPR021 Supraglottis Cancer 26
1046 c LNG001 Lung Clear Cell Carcinoma 26
1047 YNG002 Young Syndrome 26
1048 c CRD091 Cardiomyopathy, Dilated, 1dd 26
1049 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 25
1050 c CRD159 Cardiomyopathy, Dilated, 1hh 25
1051 c CRD149 Cardiomyopathy, Dilated, 1jj 24
1052 c CRD101 Cardiomyopathy, Dilated, 1x 24
1053 c CRD090 Cardiomyopathy, Dilated, 1l 24
1054 c CRD092 Cardiomyopathy, Dilated, 1w 24
1055 c CRD114 Cardiomyopathy, Dilated, 1m 24
1056 c LPR023 Leprosy 1 23
1057 c CRD115 Cardiomyopathy, Dilated, 1cc 23
1058 LRY015 Laryngeal Benign Neoplasm 23
1059 LNG022 Lung Acinar Adenocarcinoma 23
1060 c CRD162 Cardiomyopathy, Dilated, 1ii 23
1061 c MYP148 Myopathy, Centronuclear, 5 23
1062 P ACR020 Acropectorovertebral Dysplasia 23
1063 TMP008 Tempi Syndrome 22
1064 LNG012 Lung Occult Squamous Cell Carcinoma 22
1065 c CRD153 Cardiomyopathy, Dilated, 2b 22
1066 c NSP009 Nasopharyngeal Carcinoma 2 22
1067 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 22
1068 c CRD082 Cardiomyopathy, Dilated, 1gg 22
1069 c CRD063 Cardiomyopathy, Dilated, 2a 22
1070 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1071 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 22
1072 c CRD111 Cardiomyopathy, Dilated, 1i 21
1073 c LTH042 Lethal Congenital Contracture Syndrome 10 21
1074 c CRD173 Cardiomyopathy, Dilated, 1nn 21
1075 c CRD060 Cardiomyopathy, Dilated, 1z 21
1076 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 21
1077 c CRD096 Cardiomyopathy, Dilated, 1ee 21
1078 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 21
1079 c CRD112 Cardiomyopathy, Dilated, 1u 21
1080 c SRC024 Sarcoidosis 3 21
1081 c CRD113 Cardiomyopathy, Dilated, 1v 20
1082 c NSP015 Nasopharyngeal Carcinoma 3 20
1083 c CRD108 Cardiomyopathy, Dilated, 1bb 20
1084 c LPR017 Leprosy 5 20
1085 c CRD244 Cardiomyopathy, Dilated, 2c 19
1086 c CRD064 Cardiomyopathy, Dilated, 1ff 19
1087 P LNG021 Lung Occult Small Cell Carcinoma 19
1088 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 19
1089 KPS005 Kaposiform Lymphangiomatosis 18
1090 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 18
1091 SGN005 Signet Ring Lung Adenocarcinoma 17
1092 RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 17
1093 HYD053 Hydrocephalus with Associated Malformations 17
1094 c LPR016 Leprosy 4 17
1095 c LPR020 Leprosy 6 17
1096 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1097 FTL048 Fetal Lung Interstitial Tumor 15
1098 BSL003 Basaloid Lung Carcinoma 15
1099 LNG014 Lung Superior Sulcus Carcinoma 15
1100 PRS111 Persistent Fifth Aortic Arch 14
1101 HLR002 Hilar Lung Carcinoma 14
1102 LRY005 Laryngeal Small Cell Carcinoma 14
1103 LRY010 Laryngeal Adenoid Cystic Carcinoma 14
1104 c DLT017 Dilated Cardiomyopathy 1t 14
1105 c CRD070 Cardiomyopathy, Dilated, 1k 13
1106 c CRD071 Cardiomyopathy, Dilated, 1q 13
1107 c ACR046 Acropectorovertebral Dysplasia F Form 13
1108 c BNG019 Benign Intermediate Mesothelioma 13
1109 LRY020 Larynx Sarcoma 13
1110 LNG005 Lung Occult Adenocarcinoma 12
1111 SMR006 Smarca4-Deficient Sarcoma of Thorax 12
1112 SGL001 Siegler Brewer Carey Syndrome 10
1113 c CNG406 Congenital Pulmonary Airway Malformation Type 0 10
1114 NSL005 Nasal Cavity Olfactory Neuroblastoma 9
1115 PLM023 Pulmonary Artery Choriocarcinoma 7
1116 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
1117 LRY012 Laryngeal Cartilage Cancer 7
1118 LNG034 Lung Hilum Cancer 6
1119 c CRD027 Cardiomyopathy Due to Anthracyclines 6
1120 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
1121 LNG090 Lung Combined Type Small Cell Adenocarcinoma 4
1122 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
1123 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
1124 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
1125 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
1126 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
1127 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
1128 ENC035 Encircling Double Aortic Arch 4
1129 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
1130 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
1131 LGN002 Legionellosis 60
1132 LNG023 Lung Leiomyosarcoma 29
1133 P LNG064 Lung Cancer Susceptibility 3 79
1134 P HYP724 Hyperlipoproteinemia, Type Iii 74
1135 P INF038 Influenza 69
1136 EWN003 Ewing Sarcoma 69
1137 ALL003 Allergic Rhinitis 69
1138 c SML038 Small Cell Cancer of the Lung 67
1139 c NMN015 Niemann-Pick Disease, Type C1 67
1140 c DPH024 Diaphragmatic Hernia, Congenital 66
1141 LNG039 Lung Squamous Cell Carcinoma 66
1142 FBR011 Fibrodysplasia Ossificans Progressiva 65
1143 HSH003 Hashimoto Thyroiditis 63
1144 c NMN016 Niemann-Pick Disease, Type B 61
1145 P NMN002 Niemann-Pick Disease 60
1146 P MCR256 Microphthalmia, Syndromic 9 59
1147 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 59
1148 EXT034 Extrinsic Allergic Alveolitis 58
1149 c NMN013 Niemann-Pick Disease, Type a 58
1150 GRN051 Granulomatous Disease, Chronic, X-Linked 55
1151 P RST002 Restrictive Cardiomyopathy 55
1152 c LSS005 Lissencephaly 1 54
1153 c NMN014 Niemann-Pick Disease, Type C2 53
1154 c HYP740 Hyperlipoproteinemia, Type V 53
1155 BTY001 Butyrylcholinesterase Deficiency 52
1156 MCR088 Microscopic Polyangiitis 51
1157 P LSS002 Lissencephaly 51
1158 ALP077 Alpha-Methylacetoacetic Aciduria 51
1159 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 50
1160 LPR001 Lepromatous Leprosy 50
1161 c HYP739 Hyperlipoproteinemia, Type Iv 50
1162 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 50
1163 c HYP768 Hyperlipoproteinemia, Type I 50
1164 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 49
1165 LMT001 Limited Scleroderma 48
1166 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 47
1167 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
1168 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 46
1169 LRY029 Laryngomalacia 45
1170 PDT035 Pediatric Systemic Lupus Erythematosus 45
1171 c MCR261 Microphthalmia, Syndromic 2 44
1172 c LSS006 Lissencephaly 2 43
1173 c MCR241 Microphthalmia, Syndromic 3 43
1174 c LTH007 Lethal Congenital Contracture Syndrome 1 42
1175 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 42
1176 c LTH008 Lethal Congenital Contracture Syndrome 2 42
1177 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 41
1178 BP1002 Bap1 Tumor Predisposition Syndrome 41
1179 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1180 c MCR263 Microphthalmia, Syndromic 1 39
1181 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 39
1182 P LTH003 Lethal Congenital Contracture Syndrome 38
1183 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 37
1184 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 37
1185 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 36
1186 c TYP024 Type Ii Mixed Cryoglobulinemia 36
1187 TRC026 Tracheal Disease 35
1188 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 35
1189 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 35
1190 c MCR312 Microphthalmia, Syndromic 10 34
1191 c MCR251 Microphthalmia, Syndromic 6 34
1192 c LSS010 Lissencephaly 4 33
1193 c MCR245 Microphthalmia, Syndromic 8 33
1194 c MCR252 Microphthalmia, Syndromic 5 32
1195 RHM032 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis 32
1196 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 31
1197 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
1198 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 30
1199 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 29
1200 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 29
1201 c CRD176 Cardiomyopathy, Familial Restrictive, 1 29
1202 c LSS009 Lissencephaly 3 28
1203 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 28
1204 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 28
1205 LYM122 Lymphangiectasia, Pulmonary, Congenital 27
1206 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 27
1207 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 27
1208 c MCR212 Microphthalmia, Syndromic 12 26
1209 IND004 Indeterminate Leprosy 26
1210 c LSS025 Lissencephaly 5 26
1211 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
1212 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 26
1213 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 25
1214 c LTH047 Lethal Congenital Contracture Syndrome 3 25
1215 c CRD098 Cardiomyopathy, Familial Restrictive, 3 25
1216 c LTH027 Lethal Congenital Contracture Syndrome 5 25
1217 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 24
1218 c MCR262 Microphthalmia, Syndromic 4 24
1219 c LTH039 Lethal Congenital Contracture Syndrome 11 23
1220 c LSS035 Lissencephaly 8 23
1221 c MCR228 Microphthalmia, Syndromic 13 23
1222 c DPH016 Diaphragmatic Hernia 3 22
1223 c HYP819 Hyperlipoproteinemia, Type Id 22
1224 c LTH032 Lethal Congenital Contracture Syndrome 7 22
1225 HYP692 Hypersensitivity Pneumonitis, Familial 22
1226 c LTH029 Lethal Congenital Contracture Syndrome 9 21
1227 c MCR217 Microphthalmia, Syndromic 11 21
1228 c LTH030 Lethal Congenital Contracture Syndrome 8 21
1229 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
1230 c LTH026 Lethal Congenital Contracture Syndrome 4 20
1231 c LTH031 Lethal Congenital Contracture Syndrome 6 20
1232 c INF136 Influenza, Severe 20
1233 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1234 c DPH025 Diaphragmatic Hernia 2 18
1235 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 17
1236 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
1237 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1238 c CRD057 Cardiomyopathy, Familial Restrictive, 2 15
1239 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 11
1240 P HRN027 Hernia, Anterior Diaphragmatic 8
1241 TRC090 Trachea Mucoepidermoid Carcinoma 6
1242 PRT037 Pertussis 66
1243 c PLM164 Pulmonary Hypertension, Primary, 1 79
1244 c TBR025 Tuberous Sclerosis 1 74
1245 P TBR001 Tuberous Sclerosis 72
1246 P FML018 Familial Mediterranean Fever 70
1247 CNT097 Central Hypoventilation Syndrome, Congenital 70
1248 c TBR026 Tuberous Sclerosis 2 69
1249 c GLY008 Glycogen Storage Disease Ii 68
1250 P PRM011 Primary Ciliary Dyskinesia 67
1251 LYM007 Lymphangioleiomyomatosis 67
1252 c GCH015 Gaucher Disease, Type I 65
1253 c GLY060 Glycogen Storage Disease Ia 63
1254 c GLY003 Glycogen Storage Disease Iii 62
1255 P DST002 Distal Arthrogryposis 61
1256 c GLY004 Glycogen Storage Disease V 60
1257 P GLY013 Glycogen Storage Disease 59
1258 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 59
1259 CHR101 Char Syndrome 58
1260 c GLY011 Glycogen Storage Disease Vii 55
1261 c GLY007 Glycogen Storage Disease Iv 54
1262 CNG046 Congenital Fiber-Type Disproportion 54
1263 c ART144 Arthrogryposis, Distal, Type 1a 53
1264 c GLY005 Glycogen Storage Disease Vi 52
1265 c ACH041 Achondrogenesis, Type Ii 51
1266 P OPT048 Opitz-Gbbb Syndrome 50
1267 DFF035 Diffuse Cutaneous Systemic Sclerosis 48
1268 c OPT050 Opitz Gbbb Syndrome, Type Ii 48
1269 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 47
1270 c ART155 Arthrogryposis, Distal, Type 2b1 47
1271 c ART061 Arthrogryposis, Distal, Type 2a 47
1272 c ART120 Arthrogryposis, Distal, Type 3 47
1273 c OPT051 Opitz Gbbb Syndrome, Type I 46
1274 LRY022 Laryngoonychocutaneous Syndrome 45
1275 NCT003 N-Acetylglutamate Synthase Deficiency 42
1276 c GLY098 Glycogen Storage Disease, Type Ixd 42
1277 c CHR630 Chorea, Benign Hereditary 39
1278 c GLY044 Glycogen Storage Disease Ixc 38
1279 c GLY016 Glycogen Storage Disease Ib 38
1280 c ART119 Arthrogryposis, Distal, Type 5 36
1281 c ART147 Arthrogryposis, Distal, Type 7 35
1282 INT271 Interstitial Lung and Liver Disease 34
1283 c GLY097 Glycogen Storage Disease Ixb 33
1284 c GLY057 Glycogen Storage Disease X 31
1285 c GLY043 Glycogen Storage Disease Xii 30
1286 c ART104 Arthrogryposis, Distal, Type 5d 30
1287 c GLY009 Glycogen Storage Disease Xv 29
1288 c GLY017 Glycogen Storage Disease Ic 29
1289 MCP039 Mucoepithelial Dysplasia, Hereditary 27
1290 c GLY023 Glycogen Storage Disease Type 0 27
1291 c GLY001 Glycogen Storage Disease Ix 26
1292 NCR015 Necrotizing Autoimmune Myopathy 26
1293 c GLY059 Glycogen Storage Disease Xiii 25
1294 c FML344 Familial Mediterranean Fever, Autosomal Dominant 24
1295 c ART112 Arthrogryposis, Distal, Type 10 23
1296 c GLY006 Glycogen Storage Disease Viii 23
1297 c ART156 Arthrogryposis, Distal, Type 2b2 22
1298 c ART157 Arthrogryposis, Distal, Type 2b3 21
1299 c GLY093 Glycogen Storage Disease Ixa 21
1300 c ART131 Arthrogryposis, Distal, Type 4 20
1301 c ART060 Arthrogryposis, Distal, Type 1b 19
1302 c ART128 Arthrogryposis, Distal, Type 6 18
1303 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1304 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1305 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16
1306 c ART054 Arthrogryposis, Distal, Type 2e 12
1307 P CHR636 Chorea, Benign Familial 11
1308 LRY003 Laryngeal Mucoepidermoid Carcinoma 11
1309 PLG002 Plague 54
1310 MCR141 Mucormycosis 48
1311 P SYS005 Systemic Scleroderma 68
1312 P PLR004 Pleuropulmonary Blastoma 68
1313 ELL001 Ellis-Van Creveld Syndrome 62
1314 c SCL052 Scleroderma, Familial Progressive 62
1315 c LCL006 Localized Scleroderma 61
1316 c ORF037 Orofaciodigital Syndrome I 59
1317 c ORF040 Orofaciodigital Syndrome Viii 56
1318 PRC002 Paracoccidioidomycosis 55
1319 PLM017 Pulmonary Alveolar Microlithiasis 54
1320 P ORF001 Orofaciodigital Syndrome 53
1321 c ORF034 Orofaciodigital Syndrome Vi 52
1322 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 51
1323 P RNL028 Renal Tubular Dysgenesis 51
1324 P CRY007 Cryoglobulinemia, Familial Mixed 50
1325 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 44
1326 c ORF035 Orofaciodigital Syndrome Iv 36
1327 c ORF038 Orofaciodigital Syndrome Iii 32
1328 c ORF033 Orofaciodigital Syndrome V 32
1329 c ORF036 Orofaciodigital Syndrome Xiv 28
1330 c ORF043 Orofaciodigital Syndrome Ix 27
1331 c ORF046 Orofaciodigital Syndrome Xvi 26
1332 c ORF042 Orofaciodigital Syndrome Xi 24
1333 c ORF052 Orofaciodigital Syndrome Xviii 23
1334 c ORF041 Orofaciodigital Syndrome X 22
1335 c ORF051 Orofaciodigital Syndrome Xvii 22
1336 LRY013 Laryngeal Neuroendocrine Tumor 21
1337 c ORF045 Orofaciodigital Syndrome Xv 21
1338 c ORF039 Orofaciodigital Syndrome Vii 14
1339 c ORF006 Orofaciodigital Syndrome 13 12
1340 c ORF005 Orofaciodigital Syndrome 12 12
1341 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1342 P MYC084 Mycobacterium Tuberculosis 1 69
1343 c MYC055 Mycobacterium Tuberculosis 3 15
1344 c MYC054 Mycobacterium Tuberculosis 2 14
1345 PLM134 Pulmonary Fibrosis, Idiopathic 77
1346 GRN037 Granulomatosis with Polyangiitis 62
1347 MXD005 Mixed Connective Tissue Disease 55
1348 STR008 Strongyloidiasis 53
1349 MYP136 Myopathy, Centronuclear, X-Linked 49
1350 CYS008 Cystic Echinococcosis 47
1351 BRT002 Birt-Hogg-Dube Syndrome 62
1352 TXC011 Toxocariasis 43



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