Respiratory Diseases Category (1357 diseases)


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

# Family MCID Name MIFTS
1 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 32
2 ENL012 Enolase Alpha, Lung-Specific 9
3 TTL012 Total Anomalous Pulmonary Venous Return 1 57
4 LGN006 Legionnaire Disease 52
5 PRG008 Paragonimiasis 38
6 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 37
7 P PLM037 Pulmonary Hypertension 67
8 c PLM127 Pulmonary Hypertension, Primary, 3 34
9 c PLM128 Pulmonary Hypertension, Primary, 2 29
10 c PLM121 Pulmonary Hypertension, Primary, 4 28
11 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 13
12 c RRP017 Rare Pulmonary Hypertension 6
13 P SLP006 Sleep Apnea 69
14 c CNT015 Central Sleep Apnea 45
15 CYS044 Cystic Disease of Lung 20
16 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
17 PRQ001 Paraquat Lung 16
18 P PTN014 Patent Ductus Arteriosus 1 60
19 BRT055 Breath-Holding Spells 30
20 P ATR011 Atrial Fibrillation 66
21 SPR004 Supravalvular Aortic Stenosis 58
22 HST011 Histoplasmosis 55
23 c SPN330 Spondylocostal Dysostosis 5 49
24 c ATR038 Atrial Fibrillation, Familial, 3 30
25 c ATR092 Atrial Fibrillation, Familial, 15 28
26 c ATR061 Atrial Fibrillation, Familial, 10 28
27 c ATR035 Atrial Fibrillation, Familial, 6 24
28 c ATR037 Atrial Fibrillation, Familial, 7 24
29 c ATR059 Atrial Fibrillation, Familial, 11 22
30 c ATR070 Atrial Fibrillation, Familial, 9 22
31 c ATR085 Atrial Fibrillation, Familial, 18 22
32 c ATR026 Atrial Fibrillation, Familial, 1 21
33 c ATR068 Atrial Fibrillation, Familial, 14 21
34 c ATR039 Atrial Fibrillation, Familial, 4 21
35 c ATR072 Atrial Fibrillation, Familial, 13 20
36 c ATR069 Atrial Fibrillation, Familial, 12 19
37 c ATR027 Atrial Fibrillation, Familial, 5 15
38 GRH002 Graham Boyle Troxell Syndrome 14
39 LBR003 Labrador Lung 13
40 c ATR025 Atrial Fibrillation, Familial, 2 13
41 c ATR028 Atrial Fibrillation, Familial, 8 13
42 c LNG086 Lung Cancer Susceptibility 5 12
43 SLC011 Silicosiderosis 9
44 MNV001 Manouvrier Syndrome 8
45 ELL004 Ellis Yale Winter Syndrome 7
46 APN008 Apnea, Obstructive Sleep 64
47 c CLR131 Ciliary Dyskinesia, Primary, 1 59
48 P PNC025 Panic Disorder 53
49 P SMK004 Smoking As a Quantitative Trait Locus 3 44
50 c CLR136 Ciliary Dyskinesia, Primary, 9 41
51 c CLR059 Ciliary Dyskinesia, Primary, 13 35
52 c CLR042 Ciliary Dyskinesia, Primary, 6 34
53 c CLR056 Ciliary Dyskinesia, Primary, 10 34
54 c CLR066 Ciliary Dyskinesia, Primary, 2 34
55 c CLR095 Ciliary Dyskinesia, Primary, 19 33
56 c CLR106 Ciliary Dyskinesia, Primary, 26 32
57 c CLR116 Ciliary Dyskinesia, Primary, 29 29
58 c CLR069 Ciliary Dyskinesia, Primary, 8 29
59 c CLR067 Ciliary Dyskinesia, Primary, 4 29
60 c CLR134 Ciliary Dyskinesia, Primary, 3 29
61 c CLR102 Ciliary Dyskinesia, Primary, 17 28
62 c CLR104 Ciliary Dyskinesia, Primary, 15 28
63 c CLR053 Ciliary Dyskinesia, Primary, 11 28
64 c CLR135 Ciliary Dyskinesia, Primary, 7 27
65 c CLR091 Ciliary Dyskinesia, Primary, 14 27
66 c CLR123 Ciliary Dyskinesia, Primary, 37 27
67 c CLR097 Ciliary Dyskinesia, Primary, 23 26
68 c CLR125 Ciliary Dyskinesia, Primary, 33 26
69 c CLR114 Ciliary Dyskinesia, Primary, 30 26
70 c CLR094 Ciliary Dyskinesia, Primary, 28 26
71 c CLR092 Ciliary Dyskinesia, Primary, 18 25
72 c CLR140 Ciliary Dyskinesia, Primary, 40 25
73 c CLR098 Ciliary Dyskinesia, Primary, 27 25
74 c CLR117 Ciliary Dyskinesia, Primary, 32 25
75 c CLR068 Ciliary Dyskinesia, Primary, 5 25
76 c CLR099 Ciliary Dyskinesia, Primary, 16 24
77 c CLR090 Ciliary Dyskinesia, Primary, 22 24
78 c CLR105 Ciliary Dyskinesia, Primary, 20 24
79 c CLR139 Ciliary Dyskinesia, Primary, 39 24
80 c CLR054 Ciliary Dyskinesia, Primary, 12 23
81 c CLR138 Ciliary Dyskinesia, Primary, 38 23
82 c CLR101 Ciliary Dyskinesia, Primary, 25 23
83 c CLR107 Ciliary Dyskinesia, Primary, 24 23
84 c CLR142 Ciliary Dyskinesia, Primary, 42 22
85 c CLR144 Ciliary Dyskinesia, Primary, 44 22
86 c CLR126 Ciliary Dyskinesia, Primary, 35 22
87 c CLR088 Ciliary Dyskinesia, Primary, 21 22
88 c CLR143 Ciliary Dyskinesia, Primary, 43 21
89 c CLR124 Ciliary Dyskinesia, Primary, 34 21
90 c CLR145 Ciliary Dyskinesia, Primary, 45 20
91 c CLR141 Ciliary Dyskinesia, Primary, 41 20
92 c PNC122 Panic Disorder 1 19
93 c PNC070 Panic Disorder 2 13
94 URT041 Urethral Obstruction Sequence 12
95 c PNC068 Panic Disorder 3 12
96 GRP001 Graphite Pneumoconiosis 11
97 c SMK001 Smoking As a Quantitative Trait Locus 1 9
98 GNT107 Genetic Interstitial Lung Disease 8
99 c SMK002 Smoking As a Quantitative Trait Locus 2 7
100 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 6
101 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
102 RRD032 Rare Disorder Potentially Indicated for Lung Transplant 3
103 CLB015 Colobomata Unilobar Lung Heart Defect 3
104 P HRT032 Heart Disease 75
105 P ASP006 Aspergillosis 69
106 TKY002 Takayasu Arteritis 62
107 CCC001 Coccidioidomycosis 58
108 RSP019 Respiratory Distress Syndrome in Premature Infants 58
109 P PNM006 Pneumoconiosis 56
110 P PLM034 Pulmonary Emphysema 55
111 HNC001 Henoch-Schoenlein Purpura 55
112 ESN011 Eisenmenger Syndrome 55
113 P DXT004 Dextro-Looped Transposition of the Great Arteries 54
114 BRN014 Bronchopneumonia 54
115 PLM010 Pulmonary Edema 54
116 P LRY019 Laryngitis 52
117 MCR088 Microscopic Polyangiitis 51
118 RSP006 Respiratory System Disease 50
119 STT002 Status Asthmaticus 50
120 BTY001 Butyrylcholinesterase Deficiency 50
121 c INV001 Invasive Aspergillosis 49
122 PLM035 Pulmonary Eosinophilia 48
123 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48
124 SHR044 Short Rib-Polydactyly Syndrome 48
125 SHR098 Short-Rib Thoracic Dysplasia 12 48
126 c PNT034 Pontocerebellar Hypoplasia, Type 2e 48
127 ASB001 Asbestosis 47
128 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46
129 P PNT019 Pontocerebellar Hypoplasia 46
130 PLR022 Pleural Disease 45
131 c PNT036 Pontocerebellar Hypoplasia, Type 6 45
132 NNS002 Nonspecific Interstitial Pneumonia 45
133 ASP008 Aspiration Pneumonitis 45
134 c PNT018 Pontocerebellar Hypoplasia, Type 1b 44
135 PRN021 Paranasal Sinus Disease 44
136 c PNT039 Pontocerebellar Hypoplasia, Type 7 43
137 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 43
138 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
139 LRY017 Laryngeal Disease 42
140 c MLG079 Malignant Pleural Mesothelioma 42
141 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
142 ANC002 Anca-Associated Vasculitis 41
143 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
144 P SCL057 Scoliosis, Isolated 1 41
145 KLB003 Klebsiella Pneumonia 41
146 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
147 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
148 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
149 c PNT045 Pontocerebellar Hypoplasia, Type 1a 39
150 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 39
151 PLM052 Pulmonary Arteriovenous Malformation 39
152 c PNT010 Pontocerebellar Hypoplasia Type 1 39
153 ADN067 Adenoid Hypertrophy 39
154 TRC005 Tracheal Stenosis 38
155 VSM001 Vasomotor Rhinitis 38
156 CPM001 Cap Myopathy 38
157 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
158 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 37
159 UPP004 Upper Respiratory Tract Disease 37
160 CGH001 Cough Variant Asthma 37
161 INT011 Interstitial Emphysema 36
162 TRC020 Tracheitis 36
163 P MXL015 Maxillary Sinusitis 36
164 NNT004 Neonatal Respiratory Failure 36
165 ATR003 Atrophic Rhinitis 35
166 INT040 Intrinsic Asthma 34
167 SCK001 Sick Building Syndrome 34
168 NSP003 Nasopharyngeal Disease 34
169 SLF002 Silo Filler's Disease 34
170 c CHR057 Chronic Laryngitis 34
171 SPR006 Sparganosis 34
172 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 34
173 ADN002 Adenoiditis 33
174 EPG003 Epiglottitis 33
175 NSL022 Nasal Cavity Disease 32
176 c PNT030 Pontocerebellar Hypoplasia, Type 8 32
177 EPT003 Epithelioid Trophoblastic Tumor 31
178 LRY004 Laryngotracheitis 31
179 c CHR038 Chronic Maxillary Sinusitis 31
180 PLR005 Pleuropneumonia 31
181 LRY007 Laryngeal Tuberculosis 31
182 c ACT059 Acute Maxillary Sinusitis 30
183 LFF002 Loeffler Syndrome 30
184 c ACT072 Acute Laryngitis 30
185 PLM013 Pulmonary Immaturity 30
186 ETH009 Ethmoid Sinusitis 30
187 WTB001 Wet Beriberi 30
188 SPH007 Sphenoid Sinusitis 30
189 c PNT046 Pontocerebellar Hypoplasia, Type 5 29
190 TXC007 Toxic Pneumonitis 29
191 BGS001 Bagassosis 29
192 BYS001 Byssinosis 28
193 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 28
194 P FRN011 Frontal Sinusitis 28
195 c PNT050 Pontocerebellar Hypoplasia, Type 11 28
196 c CHR047 Chronic Ethmoiditis 27
197 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
198 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 27
199 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
200 c VRL001 Viral Laryngitis 27
201 ACT018 Acute Laryngopharyngitis 27
202 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
203 P IDP090 Idiopathic Eosinophilic Pneumonia 27
204 ADS001 Adiaspiromycosis 26
205 ASB003 Asbestos Intoxication 26
206 P TTR028 Tetraamelia Syndrome 1 25
207 MDD005 Middle Lobe Syndrome 25
208 c BRN145 Bronchiectasis 3 25
209 STR029 Sternal Cleft 25
210 DFF002 Diffuse Pulmonary Fibrosis 25
211 TRC016 Tracheal Calcification 25
212 ANT017 Anthracosilicosis 24
213 c PNM004 Pneumoconiosis Due to Talc 24
214 TBR009 Tuberculous Empyema 24
215 APN006 Apnea of Prematurity 24
216 P ACT034 Acute Ethmoiditis 24
217 MNR004 Mounier-Kuhn Syndrome 23
218 c CNG521 Congenital Heart Defects, Multiple Types, 5 23
219 c CNG520 Congenital Heart Defects, Multiple Types, 6 23
220 c ACT035 Acute Frontal Sinusitis 23
221 END019 Endobronchial Leiomyoma 23
222 c CNG404 Congenital Heart Defects, Multiple Types, 4 23
223 c LCL003 Localized Pulmonary Fibrosis 23
224 c CHR040 Chronic Frontal Sinusitis 22
225 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
226 INF043 Infantile Apnea 22
227 SPN014 Spontaneous Tension Pneumothorax 22
228 ATR024 Atrial Fibrillation and Stroke 22
229 c PNT053 Pontocerebellar Hypoplasia, Type 13 22
230 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 22
231 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
232 c TTR029 Tetraamelia Syndrome 2 21
233 c CNG511 Congenital Heart Defects, Multiple Types, 2 21
234 PLR002 Pleural Lipoma 21
235 ALV003 Alveoli Adenoma 21
236 PST015 Postinflammatory Pulmonary Fibrosis 21
237 c BRN144 Bronchiectasis 2 21
238 ACT016 Actinobacillosis 21
239 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
240 c CNG616 Congenital Heart Defects, Multiple Types, 7 20
241 MXL005 Maxillary Sinus Inverted Papilloma 19
242 FRN004 Frontal Sinus Inverted Papilloma 19
243 CMP003 Compensatory Emphysema 19
244 UVL006 Uvulitis 18
245 DYS135 Dysphagia Lusoria 18
246 c CNG385 Congenital Heart Defects, Multiple Types, 3 17
247 c SCL049 Scoliosis, Isolated 3 17
248 KLN003 Kaolin Pneumoconiosis 16
249 c CHR039 Chronic Sphenoidal Sinusitis 14
250 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
251 DPH028 Diaphragmatic Flutter 13
252 P ACT061 Acute Sphenoidal Sinusitis 13
253 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
254 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 13
255 TBR004 Tuberculous Pneumothorax 12
256 c SCL058 Scoliosis, Isolated 2 12
257 STP010 Staphylococcal Necrotizing Pneumonia 11
258 c SCL059 Scoliosis, Isolated 4 10
259 c SCL060 Scoliosis, Isolated 5 10
260 c PLR018 Pleuropulmonary Blastoma Type 1 9
261 ETH006 Ethmoid Sinus Inverted Papilloma 9
262 SLT003 Slate Pneumoconiosis 9
263 c EMP012 Emphysema, Hereditary Pulmonary 9
264 CNG564 Congenital Respiratory-Biliary Fistula 9
265 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 8
266 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 8
267 NSL002 Nasal Vestibule Papilloma 8
268 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
269 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 6
270 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
271 INT186 Intralobar Congenital Pulmonary Sequestration 5
272 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 5
273 RSP022 Respiratory Malformation 5
274 ETH007 Ethmoid Sinus Ectopic Meningioma 4
275 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
276 MXD022 Mixed Mineral Dust Pneumoconiosis 4
277 PLM192 Pulmonary Hypertension with Unclear Multifactorial Mechanism 4
278 ENC035 Encircling Double Aortic Arch 4
279 RSP025 Respiratory or Thoracic Malformation 2
280 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 31
281 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
282 TMR016 Tumor Suppressor Gene on Chromosome 11 28
283 c LNG109 Lung Cancer Susceptibility 1 27
284 SRF006 Surfactant Dysfunction 35
285 c BSL007 Basal Cell Carcinoma 68
286 c BSL024 Basal Cell Carcinoma 1 56
287 CRC006 Carcinoid Syndrome 55
288 ECH003 Echinococcosis 53
289 P SML001 Small Cell Carcinoma 52
290 c LRG001 Large Cell Carcinoma 50
291 c BSL034 Basal Cell Carcinoma 7 26
292 c BSL011 Basal Cell Carcinoma, Multiple 25
293 THY044 Thymic-Renal-Anal-Lung Dysplasia 18
294 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 17
295 c BSL027 Basal Cell Carcinoma 4 16
296 c BSL025 Basal Cell Carcinoma 2 14
297 c BSL029 Basal Cell Carcinoma 6 13
298 c BSL028 Basal Cell Carcinoma 5 13
299 c BSL026 Basal Cell Carcinoma 3 13
300 DFC004 Deficiency Anemia 70
301 MLD001 Melioidosis 68
302 P BRL012 Bare Lymphocyte Syndrome, Type Ii 66
303 P DRM010 Dermatomyositis 61
304 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 54
305 c BRL011 Bare Lymphocyte Syndrome, Type I 52
306 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 46
307 OBS037 Obesity-Hypoventilation Syndrome 46
308 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
309 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 43
310 P PLM025 Pulmonary Venoocclusive Disease 42
311 P BRY005 Beryllium Disease 40
312 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 37
313 c JBR042 Joubert Syndrome 23 36
314 ESP029 Esophageal Atresia/tracheoesophageal Fistula 36
315 c ADL027 Adult Dermatomyositis 30
316 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 25
317 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 23
318 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
319 ACT231 Acute Flaccid Myelitis 19
320 c LNG065 Lung Cancer Susceptibility 4 10
321 PLM129 Pulmonary Disease, Chronic Obstructive 73
322 c MCP050 Mucopolysaccharidosis, Type Ii 72
323 P BRG001 Brugada Syndrome 71
324 c GCH015 Gaucher Disease, Type I 70
325 P MCP040 Mucopolysaccharidosis-Plus Syndrome 69
326 c PRG042 Progressive Familial Heart Block, Type Ia 69
327 P PNM007 Pneumonia 68
328 BRN024 Bronchitis 68
329 c MCP052 Mucopolysaccharidosis, Type Vi 67
330 P PLM036 Pulmonary Fibrosis 65
331 c FML001 Familial Atrial Fibrillation 65
332 c MCP001 Mucopolysaccharidosis Iii 65
333 c MCP049 Mucopolysaccharidosis, Type Vii 63
334 BLS001 Blau Syndrome 63
335 P HYP055 Hypoplastic Left Heart Syndrome 63
336 c MCP043 Mucopolysaccharidosis, Type Iiia 61
337 c MCP047 Mucopolysaccharidosis, Type Iva 61
338 c ORF037 Orofaciodigital Syndrome I 60
339 P MYC008 Myocarditis 59
340 IDP011 Idiopathic Interstitial Pneumonia 59
341 P BRN022 Bronchiectasis 59
342 c MCP045 Mucopolysaccharidosis, Type Iiic 59
343 AVN001 Avian Influenza 59
344 BRN002 Bronchiolitis 59
345 c MCP044 Mucopolysaccharidosis, Type Iiib 59
346 NWB001 Newborn Respiratory Distress Syndrome 58
347 c MCP004 Mucopolysaccharidosis Iv 57
348 P PLY041 Polymyositis 57
349 P RHN004 Rhinitis 57
350 P END033 Endocarditis 57
351 PNM008 Pneumothorax 56
352 ALL006 Allergic Asthma 56
353 SLC006 Silicosis 56
354 c PRG126 Progressive Familial Heart Block 55
355 c ORF034 Orofaciodigital Syndrome Vi 55
356 c PRG043 Progressive Familial Heart Block, Type Ib 54
357 IMM102 Immunodeficiency 14 53
358 BRN038 Bronchial Disease 53
359 P PLM006 Pulmonary Alveolar Proteinosis 53
360 c MCP048 Mucopolysaccharidosis, Type Ivb 52
361 P PRR016 Pierre Robin Syndrome 52
362 P ACT105 Acute Mountain Sickness 52
363 c VRL005 Viral Pneumonia 52
364 c MCP046 Mucopolysaccharidosis, Type Iiid 51
365 c BRG005 Brugada Syndrome 1 51
366 LNG095 Lung Abscess 51
367 ACT017 Acute Chest Syndrome 51
368 PLR008 Pleurisy 50
369 P ESN008 Eosinophilic Pneumonia 50
370 MYC087 Mycoplasma Pneumoniae Pneumonia 50
371 P ACH011 Achondrogenesis 50
372 c ORF040 Orofaciodigital Syndrome Viii 50
373 INP001 Inappropriate Adh Syndrome 49
374 ALV002 Alveolar Echinococcosis 49
375 c ACH042 Achondrogenesis, Type Ib 49
376 PLR001 Pleural Tuberculosis 49
377 CHN065 Choanal Atresia, Posterior 49
378 P RCR004 Recurrent Respiratory Papillomatosis 49
379 ACT029 Acute Interstitial Pneumonia 49
380 c BCT013 Bacterial Pneumonia 48
381 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 48
382 CHL147 Chlamydia Pneumonia 48
383 P ORF001 Orofaciodigital Syndrome 48
384 P MRC003 Mercury Poisoning 48
385 ANT018 Anthracosis 48
386 MCC002 Mucocutaneous Leishmaniasis 47
387 c ORF035 Orofaciodigital Syndrome Iv 47
388 STR103 Streptococcus Pneumonia 47
389 ASP004 Asphyxia Neonatorum 46
390 c ACT076 Acute Myocarditis 46
391 c CHR048 Chronic Rhinitis 46
392 c ACH033 Achondrogenesis, Type Ia 46
393 P HRT035 Heart Block, Congenital 46
394 NSD001 Nose Disease 46
395 c BRG004 Brugada Syndrome 4 46
396 c CHR037 Chronic Eosinophilic Pneumonia 46
397 LYM051 Lymphomatoid Granulomatosis 45
398 SWN001 Swine Influenza 45
399 c ORF033 Orofaciodigital Syndrome V 44
400 P SDR002 Siderosis 44
401 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 44
402 IDP074 Idiopathic Bronchiectasis 44
403 NNT049 Nontuberculous Mycobacterial Lung Disease 44
404 NSP002 Nasopharyngitis 43
405 c CHR546 Chronic Mountain Sickness 43
406 DPH021 Diaphragm Disease 43
407 TRC097 Tracheomalacia 42
408 PNM002 Pneumonic Tularemia 42
409 P NSL008 Nasal Cavity Cancer 41
410 c JBR016 Joubert Syndrome 10 41
411 INH001 Inhalation Anthrax 41
412 c MCP051 Mucopolysaccharidosis, Type Ix 40
413 HYL005 Hyaline Body Myopathy 40
414 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 40
415 BRY001 Berylliosis 40
416 c HYP543 Hypoplastic Left Heart Syndrome 1 40
417 c BRG007 Brugada Syndrome 5 39
418 LNG030 Lung Adenoma 39
419 FRM003 Farmer's Lung 39
420 c BRG003 Brugada Syndrome 3 39
421 PLM018 Pulmonary Sclerosing Hemangioma 39
422 CHY005 Chylothorax, Congenital 38
423 PNB004 Panbronchiolitis, Diffuse 37
424 c ORF043 Orofaciodigital Syndrome Ix 37
425 ANT002 Anti-Basement Membrane Glomerulonephritis 36
426 c ATM022 Autoimmune Myocarditis 35
427 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 35
428 c BRG006 Brugada Syndrome 2 34
429 MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 34
430 c ORF038 Orofaciodigital Syndrome Iii 33
431 HMP003 Hemopneumothorax 33
432 PLM180 Pulmonary Artery Disease 33
433 BLN004 Balantidiasis 33
434 c SBC003 Subacute Bacterial Endocarditis 33
435 EMP011 Emphysema, Congenital Lobar 33
436 NSL006 Nasal Cavity Squamous Cell Carcinoma 33
437 BRD003 Bird Fancier's Lung 32
438 c BRG008 Brugada Syndrome 6 32
439 CPL004 Caplan's Syndrome 32
440 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 32
441 c BRG012 Brugada Syndrome 9 31
442 LRY002 Laryngostenosis 31
443 TRC025 Tracheal Cancer 31
444 DFF031 Diffuse Alveolar Hemorrhage 30
445 c ORF036 Orofaciodigital Syndrome Xiv 30
446 ANR006 Anaerobic Pneumonia 30
447 P TRC024 Trachea Carcinoma 30
448 c TRC002 Trachea Carcinoma in Situ 30
449 PRT045 Prothrombin-Related Thrombophilia 29
450 RSP005 Respiratory System Cancer 29
451 RSP004 Respiratory System Benign Neoplasm 29
452 c PRG101 Progressive Familial Heart Block, Type Ii 29
453 TRC110 Tracheobronchial Stenosis, Congenital 28
454 LPD001 Lipid Pneumonia 28
455 TRC038 Tracheobronchomegaly 27
456 CRK001 Cork-Handlers' Disease 27
457 c PLM044 Pulmonary Fibrosis, Familial 27
458 PLS031 Plastic Bronchitis 27
459 THR032 Thoracolaryngopelvic Dysplasia 27
460 CHL079 Children's Interstitial Lung Disease 27
461 c ORF041 Orofaciodigital Syndrome X 26
462 YNG002 Young Syndrome 26
463 NSL003 Nasal Cavity Adenocarcinoma 26
464 c BRG010 Brugada Syndrome 8 26
465 FBR028 Fibrosing Mediastinitis 26
466 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 26
467 c ADL080 Adult Acute Respiratory Distress Syndrome 26
468 CLS002 Classic Pulmonary Blastoma 25
469 EPG001 Epiglottis Neoplasm 24
470 PLM015 Pulmonary Systemic Sclerosis 24
471 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 24
472 c BRG009 Brugada Syndrome 7 24
473 TMP008 Tempi Syndrome 24
474 ACR020 Acropectorovertebral Dysplasia 24
475 c ORF042 Orofaciodigital Syndrome Xi 24
476 c ORF046 Orofaciodigital Syndrome Xvi 24
477 IND004 Indeterminate Leprosy 24
478 c ORF052 Orofaciodigital Syndrome Xviii 23
479 BRN040 Bronchus Adenoma 23
480 LYM001 Lymphohistiocytoid Mesothelioma 23
481 HYP015 Hyperlucent Lung 23
482 c ORF051 Orofaciodigital Syndrome Xvii 23
483 P PLM064 Pulmonary Sequestration 22
484 c SCN051 Secondary Pulmonary Alveolar Proteinosis 22
485 END006 Endobronchial Lipoma 22
486 ETH001 Ethmoid Sinus Adenocarcinoma 22
487 PLR025 Pleuroparenchymal Fibroelastosis 22
488 c HYP517 Hypoplastic Left Heart Syndrome 2 22
489 PRP011 Puerperal Pulmonary Embolism 22
490 FCT013 Factor V Leiden Thrombophilia 22
491 P SNS011 Sinus Cancer 21
492 MLT013 Malt Worker's Lung 21
493 c ORF045 Orofaciodigital Syndrome Xv 21
494 VNT001 Ventilation Pneumonitis 21
495 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 21
496 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 20
497 c ORF039 Orofaciodigital Syndrome Vii 20
498 UNL013 Unilateral Absence of a Pulmonary Artery 20
499 c BRN143 Bronchiectasis 1 20
500 c JVN046 Juvenile Polymyositis 19
501 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 18
502 SPR022 Supraglottis Neoplasm 18
503 c CNG121 Congenital Pulmonary Alveolar Proteinosis 18
504 PRM133 Primary Pulmonary Lymphoma 18
505 SWY003 Swyer-James Syndrome 18
506 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 17
507 SBG001 Subglottis Neoplasm 17
508 ETH008 Ethmoid Sinus Cancer 17
509 c INF055 Infectious Myocarditis 17
510 THR033 Thoracomelic Dysplasia 17
511 PLM108 Pulmonary Interstitial Glycogenosis 17
512 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
513 c RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 16
514 ALM003 Aluminosis 16
515 CNG243 Congenital Subglottic Stenosis 15
516 HNR001 Heiner Syndrome 15
517 THR122 Thoracic Malformation 14
518 PRS111 Persistent Fifth Aortic Arch 14
519 SPH005 Sphenoid Sinus Inverted Papilloma 14
520 c FRN009 Frontal Sinus Cancer 13
521 CHR468 Chronic Pneumonitis of Infancy 13
522 MNB001 Main Bronchus Cancer 13
523 SBG002 Subglottic Angioma 13
524 ISL036 Isolated Pulmonary Capillaritis 13
525 c ORF006 Orofaciodigital Syndrome 13 13
526 c ORF005 Orofaciodigital Syndrome 12 13
527 TRC019 Trachea Sarcoma 12
528 c INF119 Infantile Mercury Poisoning 12
529 PLM190 Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia 11
530 PRN003 Paranasal Sinus Sarcoma 11
531 c RRD018 Rare Disease with Pierre Robin Syndrome 10
532 MSH001 Mushroom Workers' Lung 10
533 c CNG257 Congenital Pulmonary Sequestration 10
534 c SCN047 Secondary Pulmonary Hemosiderosis 10
535 MXL007 Maxillary Sinus Cholesteatoma 10
536 c NSL007 Nasal Cavity Carcinoma in Situ 9
537 LRY008 Larynx Liposarcoma 9
538 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
539 c PLR020 Pleuropulmonary Blastoma Type 3 8
540 GLT003 Glottis Verrucous Carcinoma 8
541 MXL003 Maxillary Sinus Schneiderian Papilloma 8
542 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 8
543 NSL001 Nasal Cavity Inverting Papilloma 7
544 ETH015 Ethmoidal Sinus Benign Neoplasm 7
545 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
546 c SDR001 Siderosis of Eye 7
547 OLG018 Oligoarticular Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
548 c PLR019 Pleuropulmonary Blastoma Type 2 7
549 PNM022 Pneumonia Caused by Pseudomonas Aeruginosa Infection 7
550 EPT004 Epithelial Predominant Pulmonary Blastoma 6
551 FRN001 Frontal Sinus Schneiderian Papilloma 6
552 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
553 SPH022 Sphenoidal Sinus Benign Neoplasm 6
554 OCC014 Occupational Allergic Alveolitis 6
555 16Q002 16q24.1 Microdeletion Syndrome 5
556 EXT047 Extralobar Congenital Pulmonary Sequestration 5
557 LNG010 Lung Clear Cell-Sugar-Tumor 5
558 HSL001 House Allergic Alveolitis 4
559 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 4
560 MTH085 Methyl Isocyanate Allergic Asthma 4
561 NCK003 Nickel Allergic Asthma 4
562 MLC007 Maleic Anhydride Allergic Asthma 4
563 CBL010 Cobalt Allergic Asthma 4
564 SCN076 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease 4
565 PLM107 Pulmonary Fungal Infections in Patients Deemed at Risk 3
566 RRB010 Rare Bronchopulmonary Tumor 3
567 SYN108 Syndrome with Pulmonary Hypertension As a Major Feature 2
568 P RTT002 Rett Syndrome 80
569 c SPN225 Spondyloarthropathy 1 73
570 BRT054 Brittle Bone Disorder 72
571 P JBR020 Joubert Syndrome 1 72
572 BTN003 Biotinidase Deficiency 61
573 P SPN052 Spondyloarthropathy 54
574 c JBR041 Joubert Syndrome 3 53
575 c JBR018 Joubert Syndrome 4 51
576 c JBR004 Joubert Syndrome 2 48
577 c JBR012 Joubert Syndrome 5 47
578 c JBR011 Joubert Syndrome 7 46
579 c JBR025 Joubert Syndrome 17 46
580 c JBR035 Joubert Syndrome 24 46
581 CHP002 Chops Syndrome 44
582 c JBR024 Joubert Syndrome 14 44
583 c JBR014 Joubert Syndrome 9 43
584 c JBR013 Joubert Syndrome 8 42
585 c JBR028 Joubert Syndrome 13 42
586 c JBR031 Joubert Syndrome 21 40
587 c JBR037 Joubert Syndrome 26 34
588 c JBR030 Joubert Syndrome 22 34
589 c JBR022 Joubert Syndrome 20 34
590 c JBR036 Joubert Syndrome 25 33
591 c JBR045 Joubert Syndrome 33 30
592 c RTT008 Rett Syndrome, Congenital Variant 30
593 c JBR044 Joubert Syndrome 31 28
594 c JBR027 Joubert Syndrome 16 26
595 c JBR021 Joubert Syndrome 18 26
596 c JBR043 Joubert Syndrome 32 25
597 c JBR040 Joubert Syndrome 30 25
598 c JBR039 Joubert Syndrome 28 25
599 c JBR047 Joubert Syndrome 35 24
600 c JVN047 Juvenile Spondyloarthropathy 23
601 c JBR038 Joubert Syndrome 27 22
602 c JBR048 Joubert Syndrome 36 22
603 c SPN226 Spondyloarthropathy 2 16
604 c SPN256 Spondyloarthropathy 3 13
605 P LNG032 Lung Cancer 98
606 P RHM011 Rheumatoid Arthritis 80
607 P LNG064 Lung Cancer Susceptibility 3 78
608 PLM001 Pulmonary Tuberculosis 69
609 P CRD119 Cardiac Arrest 67
610 c HRD010 Hereditary Spastic Paraplegia 66
611 TBC004 Tobacco Addiction 64
612 c JVN010 Juvenile Rheumatoid Arthritis 64
613 ALP103 Alpha-1-Antitrypsin Deficiency 64
614 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 62
615 P HYP097 Hyperekplexia 61
616 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 61
617 INT066 Interstitial Lung Disease 60
618 LNG099 Lung Disease 60
619 P SLP005 Sleep Disorder 59
620 PLM033 Pulmonary Embolism 59
621 CHL028 Childhood Type Dermatomyositis 58
622 BRN056 Bronchopulmonary Dysplasia 57
623 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 57
624 TNS005 Tonsillitis 57
625 PHR003 Pharyngitis 57
626 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 57
627 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
628 P TMR010 Tumor Predisposition Syndrome 56
629 BRN012 Bronchiolitis Obliterans 55
630 NRN004 Neuroendocrine Tumor 55
631 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
632 P LRY044 Larynx Cancer 55
633 BRN015 Bronchiolo-Alveolar Adenocarcinoma 54
634 P LNG035 Lung Large Cell Carcinoma 54
635 PLM012 Pulmonary Sarcoidosis 53
636 CRY001 Cryptogenic Organizing Pneumonia 53
637 P ALL008 Allergic Bronchopulmonary Aspergillosis 53
638 LNG017 Lung Giant Cell Carcinoma 53
639 LYM004 Lymphoid Interstitial Pneumonia 51
640 FDL002 Food Allergy 51
641 LNG031 Lung Benign Neoplasm 51
642 PNM005 Pneumonic Plague 51
643 PLR007 Pleural Empyema 50
644 HNT002 Hantavirus Pulmonary Syndrome 50
645 DFF035 Diffuse Cutaneous Systemic Sclerosis 49
646 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
647 ASP007 Aspiration Pneumonia 48
648 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
649 PLM032 Pulmonary Blastoma 48
650 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 47
651 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 47
652 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
653 c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 46
654 EXT033 Extrapulmonary Tuberculosis 46
655 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 46
656 c JBR015 Joubert Syndrome 6 45
657 CHR466 Chronic Thromboembolic Pulmonary Hypertension 45
658 TBR006 Tuberculoid Leprosy 44
659 HRT015 Heritable Pulmonary Arterial Hypertension 44
660 CRP002 Croup 44
661 c HYP699 Hyperekplexia 1 44
662 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
663 LRG014 Large Cell Neuroendocrine Carcinoma 44
664 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
665 P PLM085 Pulmonary Hemosiderosis 44
666 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
667 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 43
668 PLL008 Pallister-Killian Syndrome 43
669 MYC013 Mycobacterium Abscessus 43
670 MDD018 Middle East Respiratory Syndrome 43
671 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 42
672 PHH001 Phaeohyphomycosis 42
673 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 42
674 c CHR576 Chronic Beryllium Disease 42
675 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
676 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
677 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
678 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 41
679 P PRN020 Paranasal Sinus Cancer 41
680 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
681 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 40
682 PSR016 Psoriatic Juvenile Idiopathic Arthritis 40
683 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
684 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 40
685 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 40
686 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 40
687 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
688 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 39
689 PLM068 Pulmonary Vein Stenosis 39
690 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
691 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 39
692 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 38
693 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
694 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 38
695 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
696 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
697 ORN001 Ornithosis 38
698 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 38
699 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 38
700 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
701 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 37
702 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 37
703 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 36
704 ABD010 Abdominal Wall Defect 36
705 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 36
706 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 35
707 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
708 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 35
709 c PST106 Post-Cardiac Arrest Syndrome 35
710 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 35
711 LNG091 Lung Mucoepidermoid Carcinoma 35
712 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 34
713 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 34
714 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 34
715 PLM028 Pulmonary Coin Lesion 33
716 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 33
717 BRN133 Bronchomalacia 33
718 c HYP519 Hyperekplexia 3 33
719 LNG037 Lung Sarcoma 32
720 P PLM182 Pulmonary Hypoplasia, Primary 32
721 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
722 MXL016 Maxillonasal Dysplasia, Binder Type 32
723 MXL008 Maxillary Sinus Cancer 32
724 MXL006 Maxillary Sinus Adenocarcinoma 32
725 NSL004 Nasal Cavity Lymphoma 32
726 TRC035 Tracheal Agenesis 31
727 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
728 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 31
729 MXL004 Maxillary Sinus Squamous Cell Carcinoma 30
730 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 30
731 TRC001 Trachea Leiomyoma 30
732 PLM007 Pulmonary Aspergilloma 30
733 TRC115 Tracheopathia Osteoplastica 30
734 c SPS021 Spastic Paraplegia 10 30
735 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 30
736 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 30
737 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 30
738 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
739 MCP039 Mucoepithelial Dysplasia, Hereditary 29
740 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
741 BRT013 Baritosis 29
742 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
743 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
744 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
745 TRC014 Trachea Adenoid Cystic Carcinoma 28
746 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 28
747 LYM122 Lymphangiectasia, Pulmonary, Congenital 28
748 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
749 c SPS091 Spastic Paraplegia 4 28
750 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
751 BRD005 Borderline Leprosy 27
752 BRN055 Bronchogenic Cyst 27
753 NSL005 Nasal Cavity Olfactory Neuroblastoma 27
754 GLT004 Glottis Squamous Cell Carcinoma 27
755 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
756 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
757 PTL001 Patulous Eustachian Tube 27
758 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
759 c HRD220 Hereditary Spastic Paraplegia 30 27
760 HLR002 Hilar Lung Carcinoma 27
761 P BNG022 Benign Pleural Mesothelioma 26
762 LNG009 Lung Meningioma 26
763 c HYP510 Hyperekplexia 2 26
764 P SPS012 Spastic Paraplegia 3a 26
765 TRC018 Tracheal Lymphoma 26
766 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 26
767 SCH010 Schneiderian Carcinoma 26
768 c SPS092 Spastic Paraplegia 11 25
769 c SPS013 Spastic Paraplegia 8 25
770 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 25
771 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
772 c HRD186 Hereditary Spastic Paraplegia 51 24
773 LNG036 Lung Leiomyoma 24
774 PRN002 Paranasal Sinus Lymphoma 24
775 c HYP825 Hyperekplexia 4 24
776 c SPS039 Spastic Paraplegia 5a 23
777 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 23
778 c SPS025 Spastic Paraplegia 15 23
779 NSL028 Nasal Cavity Benign Neoplasm 23
780 RGH006 Right Aortic Arch 23
781 SPR023 Supraglottis Squamous Cell Carcinoma 23
782 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
783 c LTH042 Lethal Congenital Contracture Syndrome 10 23
784 BRN148 Bronchial Benign Neoplasm 23
785 HMN012 Hemangioma of Lung 23
786 c HRD188 Hereditary Spastic Paraplegia 72 23
787 c SPS036 Spastic Paraplegia 3 23
788 c SPS027 Spastic Paraplegia 17 22
789 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 22
790 c HRD210 Hereditary Spastic Paraplegia 23 22
791 EPG002 Epiglottis Cancer 22
792 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
793 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 21
794 c FHT001 Fh Tumor Predisposition Syndrome 21
795 LNG016 Lung Papillary Adenocarcinoma 21
796 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 21
797 SLD013 Solid Adenocarcinoma with Mucin Production 21
798 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 21
799 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 21
800 CRT060 Cor Triatriatum Sinister 20
801 SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 19
802 c SPS041 Spastic Paraplegia 6 19
803 PLM002 Pulmonary Plasma Cell Granuloma 19
804 FRN058 Frontal Sinus Benign Neoplasm 18
805 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 18
806 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 18
807 c SPS028 Spastic Paraplegia 18 17
808 LNG022 Lung Acinar Adenocarcinoma 17
809 KMM002 Kommerell Diverticulum 16
810 CRV066 Cervical Aortic Arch 16
811 ISL118 Isolated Tracheoesophageal Fistula 16
812 c SPS023 Spastic Paraplegia 13 16
813 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
814 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 15
815 c SPS042 Spastic Paraplegia 9 15
816 c SPS032 Spastic Paraplegia 24 15
817 FTL048 Fetal Lung Interstitial Tumor 14
818 FRN005 Frontal Sinus Squamous Cell Carcinoma 14
819 RRP031 Rare Pulmonary Disease 14
820 c SPS038 Spastic Paraplegia 39 14
821 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
822 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
823 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 13
824 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
825 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
826 c SPS022 Spastic Paraplegia 12 13
827 c SPS029 Spastic Paraplegia 19 13
828 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
829 MXL018 Maxillary Sinus Benign Neoplasm 13
830 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
831 c SPS035 Spastic Paraplegia 29 13
832 TRC017 Trachea Squamous Cell Carcinoma 13
833 CST006 Costocoracoid Ligament, Congenitally Short 13
834 c SPS034 Spastic Paraplegia 26 13
835 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
836 MPL002 Maple Bark Strippers' Lung 12
837 c SPR097 Sporadic Hyperekplexia 12
838 c SPS033 Spastic Paraplegia 25 12
839 c SPS161 Spastic Paraplegia 32 12
840 c CNG398 Congenital Pulmonary Airway Malformation Type 1 12
841 c SPS024 Spastic Paraplegia 14 12
842 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 12
843 c SPS165 Spastic Paraplegia 47 12
844 c SPS230 Spastic Paraplegia Type 49 11
845 c SPS026 Spastic Paraplegia 16 11
846 c RRS011 Rare Sleep Disorder 11
847 c CNG405 Congenital Pulmonary Airway Malformation Type 4 11
848 LRY001 Larynx Leiomyoma 10
849 GLT001 Glottis Neoplasm 10
850 LNG110 Lung Mucinous Cystadenocarcinoma 10
851 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 10
852 c LRY009 Larynx Carcinoma in Situ 10
853 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 10
854 c CNG406 Congenital Pulmonary Airway Malformation Type 0 9
855 SBG004 Subglottis Squamous Cell Carcinoma 9
856 TRN052 Transient Hyperammonemia of the Newborn 8
857 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 8
858 P INT354 Interstitial Lung Disease Specific to Childhood 8
859 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 8
860 SPR015 Supraglottis Verrucous Carcinoma 8
861 c LRY051 Laryngotracheoesophageal Cleft Type 1 8
862 SPH008 Sphenoidal Sinus Cancer 7
863 SBG003 Subglottis Verrucous Carcinoma 7
864 PLM023 Pulmonary Artery Choriocarcinoma 7
865 RHM031 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis with Anti-Nuclear Antibodies 7
866 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
867 c SPS040 Spastic Paraplegia 5b 7
868 OLG019 Oligoarticular Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
869 LRY006 Larynx Squamous Papilloma 7
870 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
871 BRN010 Bronchial Mucus Gland Adenoma 6
872 INT351 Interstitial Lung Disease Specific to Infancy 6
873 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
874 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
875 P INT352 Interstitial Lung Disease Specific to Adulthood 5
876 c BRN001 Bronchus Carcinoma in Situ 5
877 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 5
878 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
879 EXP006 Exposure-Related Interstitial Lung Disease 5
880 NRL003 Neurilemmoma of the Pleura 4
881 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
882 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
883 MRP005 Meropenem Allergy 4
884 ISC018 Isocyanates Allergic Asthma 4
885 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
886 TRM027 Trimellitic Anhydride Allergic Asthma 4
887 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
888 SCN072 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease 4
889 SCN073 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease 4
890 SCN074 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease 4
891 c PRM307 Primary Interstitial Lung Disease Specific to Adulthood 4
892 SCN078 Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease 4
893 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
894 PHT014 Phthalic Anhydride Allergic Asthma 3
895 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
896 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
897 c PRN030 Paranasal Sinus Cancer, Adult 3
898 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
899 RSP021 Respiratory Allergy 45
900 c AMY091 Amyotrophic Lateral Sclerosis 1 89
901 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 48
902 c AMY090 Amyotrophic Lateral Sclerosis 8 43
903 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 42
904 c AMY069 Amyotrophic Lateral Sclerosis 21 40
905 c AMY083 Amyotrophic Lateral Sclerosis 11 40
906 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 38
907 c AMY062 Amyotrophic Lateral Sclerosis 12 37
908 c AMY055 Amyotrophic Lateral Sclerosis 17 36
909 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 36
910 c AMY088 Amyotrophic Lateral Sclerosis 3 36
911 c AMY085 Amyotrophic Lateral Sclerosis 9 35
912 c AMY059 Amyotrophic Lateral Sclerosis 19 34
913 c AMY067 Amyotrophic Lateral Sclerosis 18 33
914 c AMY063 Amyotrophic Lateral Sclerosis 20 32
915 c AMY022 Amyotrophic Lateral Sclerosis Type 5 30
916 c AMY023 Amyotrophic Lateral Sclerosis Type 6 29
917 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 29
918 c AMY089 Amyotrophic Lateral Sclerosis 7 27
919 c AMY110 Amyotrophic Lateral Sclerosis 24 24
920 c AMY079 Amyotrophic Lateral Sclerosis Type 15 24
921 c AMY112 Amyotrophic Lateral Sclerosis 25 21
922 c AMY074 Amyotrophic Lateral Sclerosis Type 14 21
923 c AMY108 Amyotrophic Lateral Sclerosis 23 21
924 c AMY109 Amyotrophic Lateral Sclerosis Type 22 18
925 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 12
926 P HYP061 Hypertrophic Cardiomyopathy 70
927 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 68
928 LMB002 Lambert-Eaton Myasthenic Syndrome 53
929 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 53
930 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 52
931 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 49
932 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 47
933 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 41
934 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 39
935 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 39
936 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 37
937 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 36
938 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 36
939 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 35
940 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 33
941 c CRD219 Cardiomyopathy, Infantile Hypertrophic 32
942 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 29
943 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 29
944 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 29
945 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 28
946 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 28
947 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 26
948 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 26
949 c CRD242 Cardiomyopathy, Familial Hypertrophic 27 24
950 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 21
951 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
952 c HYP486 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training 5
953 CYS001 Cystic Fibrosis 81
954 c DLT002 Dilated Cardiomyopathy 79
955 P RSP003 Respiratory Failure 74
956 P HYP724 Hyperlipoproteinemia, Type Iii 73
957 c GLY008 Glycogen Storage Disease Ii 70
958 P LPR021 Leprosy 3 69
959 c HYP768 Hyperlipoproteinemia, Type I 67
960 WLF001 Wolff-Parkinson-White Syndrome 66
961 P GCH001 Gaucher's Disease 63
962 c GLY060 Glycogen Storage Disease Ia 63
963 c GLY004 Glycogen Storage Disease V 62
964 c SVR001 Severe Acute Respiratory Syndrome 62
965 GLY010 Glycine Encephalopathy 62
966 P THR005 Thrombotic Thrombocytopenic Purpura 61
967 PTN001 Patent Foramen Ovale 60
968 P GLY013 Glycogen Storage Disease 60
969 c GLY003 Glycogen Storage Disease Iii 59
970 PNM001 Pneumocystosis 59
971 P CNT004 Centronuclear Myopathy 59
972 c GLY007 Glycogen Storage Disease Iv 58
973 EXT034 Extrinsic Allergic Alveolitis 58
974 GRN051 Granulomatous Disease, Chronic, X-Linked 57
975 IRN002 Iron Metabolism Disease 57
976 CMM005 Common Cold 57
977 LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56
978 c GLY005 Glycogen Storage Disease Vi 56
979 MCN007 Meconium Aspiration Syndrome 55
980 ALP077 Alpha-Methylacetoacetic Aciduria 55
981 c GLY011 Glycogen Storage Disease Vii 55
982 CHR101 Char Syndrome 55
983 c THR124 Thrombotic Thrombocytopenic Purpura, Hereditary 54
984 c MYP123 Myopathy, Centronuclear, 1 54
985 c LTH007 Lethal Congenital Contracture Syndrome 1 53
986 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 53
987 c GCH016 Gaucher Disease, Type Ii 53
988 c HYP740 Hyperlipoproteinemia, Type V 53
989 c ACH041 Achondrogenesis, Type Ii 52
990 c CRD093 Cardiomyopathy, Dilated, 1a 52
991 c CRD099 Cardiomyopathy, Dilated, 1e 51
992 MLT134 Multiple Pterygium Syndrome, Lethal Type 51
993 MLL018 Miller-Dieker Lissencephaly Syndrome 51
994 c GCH017 Gaucher Disease, Type Iii 51
995 c MYP131 Myopathy, Centronuclear, 2 51
996 c HYP739 Hyperlipoproteinemia, Type Iv 50
997 c CRD187 Cardiomyopathy, Dilated, 3b 50
998 LPR001 Lepromatous Leprosy 50
999 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 49
1000 ADN089 Adenosquamous Lung Carcinoma 49
1001 P GRN048 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 48
1002 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
1003 LRY029 Laryngomalacia 47
1004 ACT055 Actinomycosis 47
1005 c GLY098 Glycogen Storage Disease, Type Ixd 47
1006 LNG020 Lung Oat Cell Carcinoma 47
1007 P BRB001 Beriberi 46
1008 PDT035 Pediatric Systemic Lupus Erythematosus 46
1009 c CRD233 Cardiomyopathy, Dilated, 1b 45
1010 NCT003 N-Acetylglutamate Synthase Deficiency 45
1011 P BRN120 Bronchus Cancer 45
1012 INT304 Interstitial Pneumonitis, Desquamative, Familial 45
1013 c CRD097 Cardiomyopathy, Dilated, 1d 45
1014 P RRC004 Rare Cardiomyopathy 44
1015 LRY018 Laryngeal Squamous Cell Carcinoma 44
1016 c GLY097 Glycogen Storage Disease Ixb 44
1017 c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 42
1018 c CRD105 Cardiomyopathy, Dilated, 1o 41
1019 c CRD102 Cardiomyopathy, Dilated, 1j 41
1020 CNG134 Congenitally Corrected Transposition of the Great Arteries 41
1021 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 41
1022 c JBR026 Joubert Syndrome 15 40
1023 P LTH003 Lethal Congenital Contracture Syndrome 40
1024 c ATL015 Atelosteogenesis, Type Ii 40
1025 c GLY016 Glycogen Storage Disease Ib 40
1026 SCR015 Scarlet Fever 39
1027 c GLY009 Glycogen Storage Disease Xv 39
1028 c CRD080 Cardiomyopathy, Dilated, 1g 39
1029 PTT002 Potter's Syndrome 38
1030 c CRD091 Cardiomyopathy, Dilated, 1dd 37
1031 c GLY044 Glycogen Storage Disease Ixc 37
1032 c CRD082 Cardiomyopathy, Dilated, 1gg 37
1033 c LPR022 Leprosy 2 37
1034 CTN013 Cutaneous Anthrax 37
1035 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37
1036 c ATL011 Atelosteogenesis, Type I 36
1037 NRS005 Neurosarcoidosis 36
1038 c CRD114 Cardiomyopathy, Dilated, 1m 36
1039 c GRN038 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 36
1040 c LTH008 Lethal Congenital Contracture Syndrome 2 35
1041 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 34
1042 P ATL001 Atelosteogenesis 34
1043 c CRD101 Cardiomyopathy, Dilated, 1x 34
1044 c GCH013 Gaucher Disease, Type Iiic 34
1045 c GLY057 Glycogen Storage Disease X 34
1046 c LTH026 Lethal Congenital Contracture Syndrome 4 34
1047 BSL003 Basaloid Lung Carcinoma 34
1048 c CRD104 Cardiomyopathy, Dilated, 1p 34
1049 c ATL012 Atelosteogenesis, Type Iii 33
1050 CYS021 Cystic Adenomatoid Malformation of Lung 33
1051 c MYP098 Myopathy, Centronuclear, 4 33
1052 LNG011 Lung Adenoid Cystic Carcinoma 33
1053 LNG019 Lung Combined Type Small Cell Carcinoma 32
1054 ASB002 Asbestos-Related Lung Carcinoma 32
1055 c CRD155 Cardiomyopathy, Dilated, 1kk 32
1056 c CRD096 Cardiomyopathy, Dilated, 1ee 31
1057 DRF001 Dirofilariasis 31
1058 c CRD090 Cardiomyopathy, Dilated, 1l 31
1059 c GLY043 Glycogen Storage Disease Xii 31
1060 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30
1061 c MYP148 Myopathy, Centronuclear, 5 30
1062 c GLY017 Glycogen Storage Disease Ic 30
1063 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 30
1064 SPR031 Sprengel Deformity 30
1065 BRN137 Bronchial Neuroendocrine Tumor 30
1066 c CRD069 Cardiomyopathy, Dilated, 1h 30
1067 PLM039 Pulmonary Neuroendocrine Tumor 30
1068 c THR044 Thrombotic Thrombocytopenic Purpura, Acquired 30
1069 MGL033 Megalocornea-Mental Retardation Syndrome 30
1070 MCN023 Mucinous Lung Adenocarcinoma 30
1071 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 29
1072 c ATM102 Autoimmune Cardiomyopathy 29
1073 c LNG001 Lung Clear Cell Carcinoma 29
1074 c CRD107 Cardiomyopathy, Dilated, 1r 29
1075 LRY011 Larynx Verrucous Carcinoma 28
1076 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 28
1077 LRY015 Laryngeal Benign Neoplasm 28
1078 PRN032 Paraneoplastic Cerebellar Degeneration 28
1079 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 27
1080 CPL001 Capillariasis 27
1081 KPS005 Kaposiform Lymphangiomatosis 27
1082 c GLY023 Glycogen Storage Disease Type 0 27
1083 c LTH047 Lethal Congenital Contracture Syndrome 3 27
1084 LRY005 Laryngeal Small Cell Carcinoma 26
1085 c DRY002 Dry Beriberi 26
1086 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
1087 SPR021 Supraglottis Cancer 25
1088 c CRD111 Cardiomyopathy, Dilated, 1i 25
1089 c GLY093 Glycogen Storage Disease Ixa 25
1090 c GLY059 Glycogen Storage Disease Xiii 25
1091 c PTN012 Patent Ductus Arteriosus 3 25
1092 SMR006 Smarca4-Deficient Sarcoma of Thorax 25
1093 c CRD159 Cardiomyopathy, Dilated, 1hh 25
1094 c GLY001 Glycogen Storage Disease Ix 25
1095 c CRD112 Cardiomyopathy, Dilated, 1u 24
1096 c CRD149 Cardiomyopathy, Dilated, 1jj 24
1097 c CRD113 Cardiomyopathy, Dilated, 1v 24
1098 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1099 c CRD092 Cardiomyopathy, Dilated, 1w 24
1100 c LTH039 Lethal Congenital Contracture Syndrome 11 24
1101 c LTH027 Lethal Congenital Contracture Syndrome 5 24
1102 c CRD063 Cardiomyopathy, Dilated, 2a 24
1103 c LTH032 Lethal Congenital Contracture Syndrome 7 23
1104 c HYP819 Hyperlipoproteinemia, Type Id 23
1105 c CRD115 Cardiomyopathy, Dilated, 1cc 23
1106 c GLY006 Glycogen Storage Disease Viii 23
1107 c CRD162 Cardiomyopathy, Dilated, 1ii 23
1108 LNG012 Lung Occult Squamous Cell Carcinoma 23
1109 c LTH029 Lethal Congenital Contracture Syndrome 9 23
1110 c DLT017 Dilated Cardiomyopathy 1t 23
1111 c CRD153 Cardiomyopathy, Dilated, 2b 22
1112 c CRD064 Cardiomyopathy, Dilated, 1ff 22
1113 c LPR023 Leprosy 1 22
1114 c PTN013 Patent Ductus Arteriosus 2 22
1115 LRY028 Laryngocele 22
1116 c LTH031 Lethal Congenital Contracture Syndrome 6 21
1117 c CRD060 Cardiomyopathy, Dilated, 1z 21
1118 c CRD173 Cardiomyopathy, Dilated, 1nn 21
1119 HYP692 Hypersensitivity Pneumonitis, Familial 21
1120 P LNG021 Lung Occult Small Cell Carcinoma 20
1121 c CRD244 Cardiomyopathy, Dilated, 2c 20
1122 HYD053 Hydrocephalus with Associated Malformations 20
1123 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 20
1124 c CRD108 Cardiomyopathy, Dilated, 1bb 20
1125 LRY020 Larynx Sarcoma 20
1126 c LPR017 Leprosy 5 19
1127 LRY010 Laryngeal Adenoid Cystic Carcinoma 18
1128 SGN005 Signet Ring Lung Adenocarcinoma 18
1129 LNG034 Lung Hilum Cancer 18
1130 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
1131 P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1132 c LPR016 Leprosy 4 16
1133 c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16
1134 c LPR020 Leprosy 6 16
1135 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
1136 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
1137 LNG014 Lung Superior Sulcus Carcinoma 15
1138 c LNG006 Lung Occult Large Cell Carcinoma 14
1139 c LMN001 Lmna-Related Dilated Cardiomyopathy 14
1140 P LRY049 Laryngotracheoesophageal Cleft Type 4 13
1141 c CRD070 Cardiomyopathy, Dilated, 1k 13
1142 c CRD071 Cardiomyopathy, Dilated, 1q 13
1143 P CNG396 Congenital Pulmonary Airway Malformation Type 2 12
1144 LNG005 Lung Occult Adenocarcinoma 12
1145 c CNG397 Congenital Pulmonary Airway Malformation Type 3 11
1146 c PSD023 Pseudo-Gaucher Disease 10
1147 SGL001 Siegler Brewer Carey Syndrome 10
1148 HLR001 Hilar Lung Neoplasm 8
1149 RHM030 Rheumatoid Factor-Negative Juvenile Idiopathic Arthritis Without Anti-Nuclear Antibodies 7
1150 LRY012 Laryngeal Cartilage Cancer 7
1151 c CRD027 Cardiomyopathy Due to Anthracyclines 6
1152 RRR009 Rare Respiratory Tumor 5
1153 TRC090 Trachea Mucoepidermoid Carcinoma 5
1154 LNG090 Lung Combined Type Small Cell Adenocarcinoma 4
1155 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
1156 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
1157 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
1158 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
1159 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
1160 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
1161 LGN002 Legionellosis 60
1162 c LNG003 Lung Carcinoma in Situ 36
1163 LNG023 Lung Leiomyosarcoma 27
1164 c TBR025 Tuberous Sclerosis 1 77
1165 AST005 Asthma 76
1166 c ART115 Aortic Valve Disease 1 75
1167 c TBR026 Tuberous Sclerosis 2 72
1168 CNT097 Central Hypoventilation Syndrome, Congenital 71
1169 P TBR001 Tuberous Sclerosis 70
1170 c NMN015 Niemann-Pick Disease, Type C1 68
1171 P INF038 Influenza 68
1172 ALL003 Allergic Rhinitis 67
1173 FBR011 Fibrodysplasia Ossificans Progressiva 67
1174 P MLG056 Malignant Hyperthermia 67
1175 P NSP012 Nasopharyngeal Carcinoma 66
1176 LNG039 Lung Squamous Cell Carcinoma 66
1177 c ART101 Aortic Valve Disease 2 65
1178 GRN037 Granulomatosis with Polyangiitis 65
1179 P ADL010 Adult Respiratory Distress Syndrome 65
1180 c NMN013 Niemann-Pick Disease, Type a 62
1181 P CRN108 Cranioectodermal Dysplasia 1 62
1182 CHR001 Churg-Strauss Syndrome 61
1183 PNM010 Pneumothorax, Primary Spontaneous 60
1184 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
1185 P NMN002 Niemann-Pick Disease 59
1186 c NMN016 Niemann-Pick Disease, Type B 58
1187 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 58
1188 c LSS005 Lissencephaly 1 56
1189 CYS008 Cystic Echinococcosis 56
1190 c MCR256 Microphthalmia, Syndromic 9 56
1191 P RST002 Restrictive Cardiomyopathy 56
1192 GDP001 Goodpasture Syndrome 55
1193 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 55
1194 CNG046 Congenital Fiber-Type Disproportion 54
1195 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 53
1196 c LSS006 Lissencephaly 2 52
1197 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 52
1198 c NMN014 Niemann-Pick Disease, Type C2 51
1199 P LSS002 Lissencephaly 51
1200 MTT002 Metatropic Dysplasia 50
1201 PLM017 Pulmonary Alveolar Microlithiasis 50
1202 P ART018 Aortic Valve Insufficiency 49
1203 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
1204 c OPT050 Opitz Gbbb Syndrome, Type Ii 47
1205 c OPT051 Opitz Gbbb Syndrome, Type I 47
1206 ANT039 Antisynthetase Syndrome 46
1207 P OPT048 Opitz-Gbbb Syndrome 46
1208 c MCR261 Microphthalmia, Syndromic 2 46
1209 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 43
1210 c MLG147 Malignant Hyperthermia 1 43
1211 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
1212 c MCR241 Microphthalmia, Syndromic 3 43
1213 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 42
1214 BP1002 Bap1 Tumor Predisposition Syndrome 42
1215 YLL001 Yellow Nail Syndrome 42
1216 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 41
1217 c CRD176 Cardiomyopathy, Familial Restrictive, 1 41
1218 c MCR263 Microphthalmia, Syndromic 1 40
1219 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
1220 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
1221 TRC026 Tracheal Disease 38
1222 P SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 38
1223 c LSS010 Lissencephaly 4 38
1224 c LSS009 Lissencephaly 3 37
1225 INT271 Interstitial Lung and Liver Disease 37
1226 c CRN109 Cranioectodermal Dysplasia 2 36
1227 P SYN165 Syndromic Microphthalmia 35
1228 c MCR312 Microphthalmia, Syndromic 10 35
1229 c MCR251 Microphthalmia, Syndromic 6 35
1230 LNG013 Lung Lymphoma 35
1231 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
1232 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 34
1233 c TYP024 Type Ii Mixed Cryoglobulinemia 34
1234 c MCR245 Microphthalmia, Syndromic 8 34
1235 c MCR252 Microphthalmia, Syndromic 5 34
1236 c CRD098 Cardiomyopathy, Familial Restrictive, 3 32
1237 c CRN111 Cranioectodermal Dysplasia 4 31
1238 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 30
1239 CLF051 Cleft Larynx, Posterior 30
1240 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 29
1241 c MCR212 Microphthalmia, Syndromic 12 28
1242 c MLG151 Malignant Hyperthermia 5 28
1243 c CRN110 Cranioectodermal Dysplasia 3 27
1244 c LSS025 Lissencephaly 5 26
1245 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
1246 c MCR262 Microphthalmia, Syndromic 4 25
1247 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
1248 c MLG148 Malignant Hyperthermia 2 24
1249 c LSS035 Lissencephaly 8 24
1250 c MCR228 Microphthalmia, Syndromic 13 24
1251 c MCR217 Microphthalmia, Syndromic 11 23
1252 c GRN044 Granulomatous Disease, Chronic, Autosomal Dominant Type 22
1253 c NSP009 Nasopharyngeal Carcinoma 2 22
1254 c MLG149 Malignant Hyperthermia 3 22
1255 c CRD057 Cardiomyopathy, Familial Restrictive, 2 21
1256 c MLG150 Malignant Hyperthermia 4 21
1257 c ART159 Aortic Valve Disease 3 21
1258 c NSP015 Nasopharyngeal Carcinoma 3 20
1259 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 19
1260 c MLG152 Malignant Hyperthermia 6 19
1261 c INF136 Influenza, Severe 19
1262 c LSS042 Lissencephaly 10 18
1263 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1264 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1265 c RRD027 Rare Disease with Malignant Hyperthermia 4
1266 PRT037 Pertussis 65
1267 P SRC025 Sarcoidosis 1 70
1268 EWN003 Ewing Sarcoma 69
1269 LYM007 Lymphangioleiomyomatosis 69
1270 c SML038 Small Cell Cancer of the Lung 65
1271 P FTL069 Fetal Akinesia Deformation Sequence 1 64
1272 P THN009 Thanatophoric Dysplasia, Type I 62
1273 HSH003 Hashimoto Thyroiditis 62
1274 ANT009 Antithrombin Iii Deficiency 59
1275 c MST023 Mesothelioma, Malignant 57
1276 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 52
1277 STV003 Stuve-Wiedemann Syndrome 51
1278 STR008 Strongyloidiasis 51
1279 LMT001 Limited Scleroderma 47
1280 P BNG032 Benign Mesothelioma 46
1281 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 45
1282 c THN010 Thanatophoric Dysplasia, Type Ii 45
1283 LTH001 Lethal Midline Granuloma 44
1284 c CHR630 Chorea, Benign Hereditary 43
1285 c SRC023 Sarcoidosis 2 43
1286 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 38
1287 c FTL072 Fetal Akinesia Deformation Sequence 4 38
1288 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 38
1289 c FTL070 Fetal Akinesia Deformation Sequence 2 36
1290 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 36
1291 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 33
1292 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 31
1293 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 30
1294 c FTL071 Fetal Akinesia Deformation Sequence 3 28
1295 OST153 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 28
1296 NCR015 Necrotizing Autoimmune Myopathy 26
1297 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
1298 c SRC024 Sarcoidosis 3 20
1299 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 19
1300 LRY003 Laryngeal Mucoepidermoid Carcinoma 18
1301 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1302 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1303 P CHR636 Chorea, Benign Familial 13
1304 c BNG019 Benign Intermediate Mesothelioma 13
1305 PLG002 Plague 63
1306 MCR141 Mucormycosis 56
1307 c PLM164 Pulmonary Hypertension, Primary, 1 75
1308 P TTR001 Tetralogy of Fallot 70
1309 P PRM011 Primary Ciliary Dyskinesia 69
1310 P CHR012 Chronic Granulomatous Disease 67
1311 P PLR004 Pleuropulmonary Blastoma 65
1312 c DPH024 Diaphragmatic Hernia, Congenital 63
1313 P DST002 Distal Arthrogryposis 63
1314 c ART144 Arthrogryposis, Distal, Type 1a 61
1315 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 60
1316 c ART061 Arthrogryposis, Distal, Type 2a 57
1317 P MYS005 Myositis 56
1318 c ART119 Arthrogryposis, Distal, Type 5 55
1319 PRC002 Paracoccidioidomycosis 54
1320 c ART120 Arthrogryposis, Distal, Type 3 51
1321 c ART155 Arthrogryposis, Distal, Type 2b1 50
1322 P CRY007 Cryoglobulinemia, Familial Mixed 50
1323 c ART147 Arthrogryposis, Distal, Type 7 45
1324 c ART104 Arthrogryposis, Distal, Type 5d 41
1325 c ART060 Arthrogryposis, Distal, Type 1b 35
1326 c ART112 Arthrogryposis, Distal, Type 10 34
1327 c ART131 Arthrogryposis, Distal, Type 4 30
1328 c ART128 Arthrogryposis, Distal, Type 6 29
1329 LRY013 Laryngeal Neuroendocrine Tumor 25
1330 c ART157 Arthrogryposis, Distal, Type 2b3 25
1331 c ART156 Arthrogryposis, Distal, Type 2b2 24
1332 c DPH016 Diaphragmatic Hernia 3 22
1333 c DPH025 Diaphragmatic Hernia 2 18
1334 c VRL025 Viral Myositis 15
1335 c ART054 Arthrogryposis, Distal, Type 2e 14
1336 c BCT018 Bacterial Myositis 14
1337 P HRN027 Hernia, Anterior Diaphragmatic 9
1338 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
1339 P MYC084 Mycobacterium Tuberculosis 1 68
1340 c MYC055 Mycobacterium Tuberculosis 3 14
1341 c MYC054 Mycobacterium Tuberculosis 2 14
1342 PLM134 Pulmonary Fibrosis, Idiopathic 77
1343 P SYS005 Systemic Scleroderma 68
1344 c LCL006 Localized Scleroderma 62
1345 c SCL052 Scleroderma, Familial Progressive 61
1346 MYP136 Myopathy, Centronuclear, X-Linked 59
1347 MXD005 Mixed Connective Tissue Disease 58
1348 P FML068 Familial Hypocalciuric Hypercalcemia 54
1349 P RNL028 Renal Tubular Dysgenesis 51
1350 LRY022 Laryngoonychocutaneous Syndrome 44
1351 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
1352 BRT002 Birt-Hogg-Dube Syndrome 63
1353 ELL001 Ellis-Van Creveld Syndrome 62
1354 CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 49
1355 TXC011 Toxocariasis 46
1356 P FML018 Familial Mediterranean Fever 73
1357 c FML344 Familial Mediterranean Fever, Autosomal Dominant 25



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