Respiratory Diseases Category (1879 diseases)


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

# Family MCID Name MIFTS
1 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 51
2 c TTR029 Tetraamelia Syndrome 2 24
3 PLM041 Pulmonary Valve Stenosis 50
4 c PLM022 Pulmonary Valve Insufficiency 45
5 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 42
6 UNL013 Unilateral Absence of a Pulmonary Artery 20
7 RSP007 Respiratory Distress Syndrome, Infant 40
8 PLM052 Pulmonary Arteriovenous Malformation 40
9 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 25
10 SRF006 Surfactant Dysfunction 33
11 PLM061 Pulmonary Edema of Mountaineers 26
12 CHP002 Chops Syndrome 47
13 CHL146 Chloramine T Respiratory Allergy 12
14 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 51
15 PRG008 Paragonimiasis 37
16 PRP101 Peripheral Pulmonary Stenosis 23
17 PLM067 Pulmonary Valves Agenesis 16
18 INH001 Inhalation Anthrax 42
19 PLM124 Pulmonary Hypertension, Neonatal 20
20 P MTC069 Mitochondrial Disorders 57
21 RSP002 Respiratory Syncytial Virus Infectious Disease 52
22 PLM070 Pulmonic Stenosis 49
23 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 31
24 P PLM069 Pulmonary Venous Return Anomaly 28
25 c RRM002 Rrm2b-Related Mitochondrial Disease 15
26 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 13
27 c ISC017 Isca2-Related Mitochondrial Disorder 9
28 P PTN014 Patent Ductus Arteriosus 1 59
29 c PNT034 Pontocerebellar Hypoplasia, Type 2e 52
30 P MTC133 Mitochondrial Myopathy 50
31 c PNT036 Pontocerebellar Hypoplasia, Type 6 46
32 P PNT019 Pontocerebellar Hypoplasia 46
33 c PNT018 Pontocerebellar Hypoplasia, Type 1b 46
34 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
35 c MTC116 Mitochondrial Myopathy, Infantile, Transient 42
36 c PNT043 Pontocerebellar Hypoplasia, Type 4 41
37 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
38 c PNT045 Pontocerebellar Hypoplasia, Type 1a 41
39 c PNT032 Pontocerebellar Hypoplasia, Type 9 40
40 c PNT010 Pontocerebellar Hypoplasia Type 1 40
41 c PNT037 Pontocerebellar Hypoplasia, Type 3 39
42 CMB014 Combined Oxidative Phosphorylation Deficiency 3 37
43 c PNT033 Pontocerebellar Hypoplasia, Type 10 35
44 c PNT030 Pontocerebellar Hypoplasia, Type 8 32
45 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
46 WTS001 Watson Syndrome 29
47 c PNT050 Pontocerebellar Hypoplasia, Type 11 28
48 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
49 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
50 PGD001 Pagod Syndrome 26
51 c PNT053 Pontocerebellar Hypoplasia, Type 13 26
52 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
53 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
54 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
55 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 16
56 RHM002 Rheumatic Pulmonary Valve Disease 11
57 ENL012 Enolase Alpha, Lung-Specific 9
58 P TTR001 Tetralogy of Fallot 69
59 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 35
60 MNV001 Manouvrier Syndrome 8
61 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
62 P NTR004 Neutropenia 63
63 c SVR003 Severe Congenital Neutropenia 59
64 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
65 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 45
66 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
67 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37
68 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 36
69 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 34
70 P OCL076 Oculopharyngodistal Myopathy 1 32
71 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 28
72 PLM058 Pulmonary Atresia with Intact Ventricular Septum 28
73 PLM004 Pulmonary Artery Leiomyosarcoma 28
74 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 27
75 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 26
76 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 26
77 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
78 c NTR045 Neutropenia, Chronic Familial 21
79 c SVR107 Severe Congenital Neutropenia 3 20
80 c SVR103 Severe Congenital Neutropenia 1 20
81 c OCL080 Oculopharyngodistal Myopathy 2 19
82 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 18
83 c SVR106 Severe Congenital Neutropenia 5 14
84 c ELN001 Elane-Related Neutropenia 13
85 c ACQ053 Acquired Neutropenia 12
86 c SVR109 Severe Congenital Neutropenia 8 11
87 c SVR105 Severe Congenital Neutropenia 2 11
88 c SVR108 Severe Congenital Neutropenia 6 9
89 c SVR104 Severe Congenital Neutropenia 7 8
90 RMZ001 Remazole Black Respiratory Allergy 4
91 4VN001 4-Vinylcyclohexene Dioxide Respiratory Allergy 4
92 P SLP006 Sleep Apnea 69
93 SPR004 Supravalvular Aortic Stenosis 57
94 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 53
95 MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40
96 P PLM040 Pulmonary Valve Disease 40
97 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 36
98 HRM016 Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 25
99 PLM008 Pulmonary Subvalvular Stenosis 24
100 P ART034 Aortopulmonary Window 21
101 CYS044 Cystic Disease of Lung 20
102 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 19
103 PLM065 Pulmonary Supravalvular Stenosis 16
104 PRQ001 Paraquat Lung 16
105 ART027 Aorta-Pulmonary Artery Fistula 15
106 RWL001 Rowley-Rosenberg Syndrome 13
107 c CNG249 Congenital Pulmonary Venous Return Anomaly 11
108 c CNG455 Congenital Aortopulmonary Window 10
109 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 8
110 KSH002 Kashani Strom Utley Syndrome 8
111 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
112 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 5
113 CCC001 Coccidioidomycosis 58
114 c SPN330 Spondylocostal Dysostosis 5 54
115 ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 51
116 CRN055 Carney Triad 44
117 MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 35
118 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
119 BRT055 Breath-Holding Spells 28
120 PNT054 Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal 23
121 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 18
122 P ATR011 Atrial Fibrillation 66
123 PTN001 Patent Foramen Ovale 62
124 HST011 Histoplasmosis 55
125 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 45
126 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 36
127 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 35
128 c ATR038 Atrial Fibrillation, Familial, 3 29
129 c ATR061 Atrial Fibrillation, Familial, 10 27
130 ANM031 Anomalous Left Coronary Artery from the Pulmonary Artery 26
131 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 24
132 c ATR035 Atrial Fibrillation, Familial, 6 24
133 c ATR037 Atrial Fibrillation, Familial, 7 23
134 c ATR092 Atrial Fibrillation, Familial, 15 23
135 MNR004 Mounier-Kuhn Syndrome 23
136 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 22
137 c ATR059 Atrial Fibrillation, Familial, 11 22
138 c ATR026 Atrial Fibrillation, Familial, 1 21
139 c PTN013 Patent Ductus Arteriosus 2 21
140 c PTN012 Patent Ductus Arteriosus 3 21
141 c ATR085 Atrial Fibrillation, Familial, 18 21
142 c ATR068 Atrial Fibrillation, Familial, 14 21
143 c ATR070 Atrial Fibrillation, Familial, 9 21
144 c ATR039 Atrial Fibrillation, Familial, 4 21
145 c RJB004 Rajab Interstitial Lung Disease with Brain Calcifications 2 20
146 c ATR072 Atrial Fibrillation, Familial, 13 20
147 c ATR069 Atrial Fibrillation, Familial, 12 18
148 SWY003 Swyer-James Syndrome 17
149 PLM062 Pulmonary Hyalinizing Granuloma 15
150 c ATR027 Atrial Fibrillation, Familial, 5 14
151 LBR003 Labrador Lung 13
152 c ATR025 Atrial Fibrillation, Familial, 2 12
153 c ATR028 Atrial Fibrillation, Familial, 8 12
154 c ISC021 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 10
155 SLC011 Silicosiderosis 8
156 ELL004 Ellis Yale Winter Syndrome 7
157 ACD012 Acid Anhydride Respiratory Allergy 3
158 APN008 Apnea, Obstructive Sleep 67
159 HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60
160 P CNT004 Centronuclear Myopathy 57
161 TRC062 Tricuspid Atresia 55
162 HRT012 Heart Valve Disease 53
163 c MYP123 Myopathy, Centronuclear, 1 52
164 c MYP131 Myopathy, Centronuclear, 2 51
165 KRT010 Kartagener Syndrome 49
166 MLT028 Multiminicore Disease 43
167 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
168 c CHR096 Chronic Pulmonary Heart Disease 41
169 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41
170 P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 40
171 P TTR031 Tetraamelia Syndrome 35
172 CMB046 Combined Oxidative Phosphorylation Deficiency 11 35
173 c MYP098 Myopathy, Centronuclear, 4 33
174 c MYP148 Myopathy, Centronuclear, 5 33
175 P ACT080 Acute Pulmonary Heart Disease 26
176 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 26
177 ISL082 Isolated Atp Synthase Deficiency 25
178 c TTR028 Tetraamelia Syndrome 1 24
179 ISL116 Isolated Complex Iii Deficiency 23
180 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
181 PLM027 Pulmonary Embolism and Infarction 21
182 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 20
183 CRB155 Carbonic Anhydrase Va Deficiency 19
184 RSP008 Respiratory Rhythmicity in Sleep 18
185 c SVR110 Severe Congenital Neutropenia 4 15
186 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 14
187 c MCP022 Mecp2-Related Severe Neonatal Encephalopathy 14
188 DPH028 Diaphragmatic Flutter 13
189 MCS005 Mucus Inspissation of Respiratory Tract 13
190 ASP009 Aspergillus Niger Infection 12
191 URT041 Urethral Obstruction Sequence 12
192 BRR006 Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 12
193 AGN006 Agnathia-Microstomia-Synotia 10
194 GRP001 Graphite Pneumoconiosis 10
195 RSP020 Respiratory Underresponsiveness to Hypoxia and Hypercapnia 10
196 CNG131 Congenital Unilateral Pulmonary Hypoplasia 9
197 GNT107 Genetic Interstitial Lung Disease 8
198 HMS004 Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin 8
199 PLM168 Pulmonary Bullae Causing Pneumothorax 7
200 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 6
201 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 5
202 CLB004 Calabro Syndrome 5
203 RSP024 Respiratory or Mediastinal Malformation 5
204 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 4
205 SYN157 Syndromic Respiratory or Mediastinal Malformation 4
206 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 4
207 CNG560 Congenital Pulmonary Artery Branch Stenosis 4
208 ISL137 Isolated Oxidative Phosphorylation Complex Disorder 3
209 NNS063 Non-Syndromic Respiratory or Mediastinal Malformation 3
210 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 3
211 CNG599 Congenital Pulmonary Veins Anomaly 3
212 CLB015 Colobomata Unilobar Lung Heart Defect 3
213 PLM054 Pulmonary Artery Coming from the Aorta 3
214 GNT059 Genetic Respiratory Malformation 2
215 GNT072 Genetic Respiratory or Mediastinal Malformation 2
216 PLM066 Pulmonary Surfactant Protein B, Deficiency of 1
217 P LNG032 Lung Cancer 98
218 P SYS005 Systemic Scleroderma 74
219 ALL003 Allergic Rhinitis 67
220 P SJG008 Sjogren Syndrome 61
221 PNM001 Pneumocystosis 61
222 CMM005 Common Cold 56
223 P PNM006 Pneumoconiosis 55
224 P LRY019 Laryngitis 53
225 BRN014 Bronchopneumonia 53
226 KLB003 Klebsiella Pneumonia 50
227 STT002 Status Asthmaticus 49
228 PLR001 Pleural Tuberculosis 49
229 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48
230 c MCR251 Microphthalmia, Syndromic 6 48
231 c MCR263 Microphthalmia, Syndromic 1 48
232 MCC002 Mucocutaneous Leishmaniasis 47
233 CHL147 Chlamydia Pneumonia 47
234 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 45
235 LRY017 Laryngeal Disease 45
236 PRN021 Paranasal Sinus Disease 44
237 TRC005 Tracheal Stenosis 43
238 c CHR546 Chronic Mountain Sickness 43
239 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 42
240 DPH021 Diaphragm Disease 42
241 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 42
242 c CHR711 Chronic Asthma 41
243 c CLR136 Ciliary Dyskinesia, Primary, 9 41
244 BRY001 Berylliosis 40
245 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 40
246 ATR003 Atrophic Rhinitis 40
247 c MCP051 Mucopolysaccharidosis, Type Ix 39
248 ADN067 Adenoid Hypertrophy 39
249 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 39
250 VSM001 Vasomotor Rhinitis 38
251 P MXL015 Maxillary Sinusitis 38
252 PSR016 Psoriatic Juvenile Idiopathic Arthritis 37
253 INT040 Intrinsic Asthma 36
254 ADN002 Adenoiditis 36
255 c ACT059 Acute Maxillary Sinusitis 35
256 SLF002 Silo Filler's Disease 35
257 c CHR057 Chronic Laryngitis 35
258 c LPR022 Leprosy 2 34
259 EXR010 Exercise-Induced Bronchoconstriction 34
260 c CLR042 Ciliary Dyskinesia, Primary, 6 34
261 CGH001 Cough Variant Asthma 34
262 NSP003 Nasopharyngeal Disease 34
263 OCC016 Occupational Asthma 33
264 EPG003 Epiglottitis 33
265 PLR005 Pleuropneumonia 33
266 INT011 Interstitial Emphysema 33
267 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 33
268 PCT001 Pectus Carinatum 33
269 ETH009 Ethmoid Sinusitis 33
270 LRY004 Laryngotracheitis 33
271 PHR002 Pharyngoconjunctival Fever 32
272 ASB003 Asbestos Intoxication 32
273 NSL022 Nasal Cavity Disease 32
274 SPH007 Sphenoid Sinusitis 32
275 CLL038 Collagen Vi-Related Myopathy 31
276 DFF031 Diffuse Alveolar Hemorrhage 31
277 c CHR038 Chronic Maxillary Sinusitis 31
278 CHL159 Childhood-Onset Asthma 30
279 ACT016 Actinobacillosis 30
280 ANR006 Anaerobic Pneumonia 29
281 LPD001 Lipid Pneumonia 29
282 LRY026 Laryngeal Cleft 28
283 LRY007 Laryngeal Tuberculosis 28
284 TRC110 Tracheobronchial Stenosis, Congenital 28
285 P FRN011 Frontal Sinusitis 28
286 c CHR047 Chronic Ethmoiditis 28
287 BYS001 Byssinosis 28
288 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 27
289 MD1003 Med13l Haploinsufficiency Syndrome 27
290 MYC088 Mycobacterium Avium Complex Infections 27
291 c CLR067 Ciliary Dyskinesia, Primary, 4 27
292 NRF028 Near-Fatal Asthma 27
293 MDD005 Middle Lobe Syndrome 26
294 c ACT035 Acute Frontal Sinusitis 26
295 c BRN075 Bronchiectasis with or Without Elevated Sweat Chloride 2 26
296 BRN055 Bronchogenic Cyst 26
297 c CLR114 Ciliary Dyskinesia, Primary, 30 25
298 CMB096 Combined Oxidative Phosphorylation Deficiency 40 25
299 P ACT034 Acute Ethmoiditis 25
300 FBR028 Fibrosing Mediastinitis 24
301 ACT018 Acute Laryngopharyngitis 24
302 ANT017 Anthracosilicosis 24
303 c CLR092 Ciliary Dyskinesia, Primary, 18 24
304 c CHR040 Chronic Frontal Sinusitis 24
305 c LTH032 Lethal Congenital Contracture Syndrome 7 24
306 APN006 Apnea of Prematurity 24
307 TMP008 Tempi Syndrome 23
308 TBR009 Tuberculous Empyema 23
309 STR029 Sternal Cleft 23
310 TRC016 Tracheal Calcification 23
311 PLR002 Pleural Lipoma 23
312 SPN014 Spontaneous Tension Pneumothorax 22
313 c CLR138 Ciliary Dyskinesia, Primary, 38 22
314 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
315 ACT130 Actin-Accumulation Myopathy 22
316 c BRN077 Bronchiectasis with or Without Elevated Sweat Chloride 3 21
317 LRY028 Laryngocele 21
318 INT394 Intermittent Asthma 21
319 CRT057 Critical Congenital Heart Disease 21
320 PLR025 Pleuroparenchymal Fibroelastosis 21
321 UVL006 Uvulitis 20
322 CRT060 Cor Triatriatum Sinister 20
323 c PNM004 Pneumoconiosis Due to Talc 20
324 CMP003 Compensatory Emphysema 18
325 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18
326 THR033 Thoracomelic Dysplasia 17
327 CRV066 Cervical Aortic Arch 15
328 KLN003 Kaolin Pneumoconiosis 14
329 STP010 Staphylococcal Necrotizing Pneumonia 14
330 P LRY049 Laryngotracheoesophageal Cleft Type 4 13
331 SLT003 Slate Pneumoconiosis 13
332 THN013 Thunderstorm Triggered Asthma 13
333 CNG241 Congenital Laryngeal Palsy 13
334 c BNG019 Benign Intermediate Mesothelioma 13
335 TBR004 Tuberculous Pneumothorax 12
336 INT109 Intranuclear Rod Myopathy 12
337 c CHR039 Chronic Sphenoidal Sinusitis 11
338 P ACT061 Acute Sphenoidal Sinusitis 11
339 c BRN144 Bronchiectasis 2 10
340 PRS144 Persistent Severe Asthma 10
341 CHT001 Chaotic Atrial Tachycardia 10
342 T2H001 T2-High Asthma 9
343 MXL007 Maxillary Sinus Cholesteatoma 9
344 PNM022 Pneumonia Caused by Pseudomonas Aeruginosa Infection 9
345 SGL001 Siegler Brewer Carey Syndrome 8
346 T2L001 T2-Low Asthma 8
347 PRS142 Persistent Mild Asthma 7
348 c LRY050 Laryngotracheoesophageal Cleft Type 2 7
349 PRS143 Persistent Moderate Asthma 6
350 ENV003 Environmental Induced Asthma 6
351 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
352 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
353 MD5001 Mda5 Deficiency 6
354 16Q002 16q24.1 Microdeletion Syndrome 5
355 NSL001 Nasal Cavity Inverting Papilloma 5
356 NRL003 Neurilemmoma of the Pleura 4
357 ETH007 Ethmoid Sinus Ectopic Meningioma 4
358 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
359 MXD022 Mixed Mineral Dust Pneumoconiosis 4
360 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 2
361 P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 31
362 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 38
363 ABS016 Absence of the Pulmonary Artery 16
364 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 13
365 PLM068 Pulmonary Vein Stenosis 38
366 CHR466 Chronic Thromboembolic Pulmonary Hypertension 48
367 TMR016 Tumor Suppressor Gene on Chromosome 11 28
368 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
369 ECH003 Echinococcosis 53
370 PLM003 Pulmonary Vein Leiomyosarcoma 21
371 NRD117 Neurodegeneration, Childhood-Onset, with Hypotonia, Respiratory Insufficiency, and Brain Imaging Abnormalities 14
372 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 9
373 P PRM018 Primary Hypertrophic Osteoarthropathy 56
374 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 46
375 PTT002 Potter's Syndrome 40
376 c SCN005 Secondary Hypertrophic Osteoarthropathy 30
377 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 25
378 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 15
379 IDP017 Idiopathic Dilatation of the Pulmonary Artery 13
380 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 7
381 DFC004 Deficiency Anemia 74
382 P BRL012 Bare Lymphocyte Syndrome, Type Ii 65
383 IMM102 Immunodeficiency 14 62
384 c BRL011 Bare Lymphocyte Syndrome, Type I 48
385 CNG134 Congenitally Corrected Transposition of the Great Arteries 38
386 OPS002 Opsismodysplasia 38
387 P ATL001 Atelosteogenesis 34
388 c ATL012 Atelosteogenesis, Type Iii 31
389 NRD094 Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 23
390 IMM221 Immunodeficiency 74, Covid19-Related, X-Linked 22
391 MCH007 Meacham Winn Culler Syndrome 7
392 c THR092 Thrombophilia Due to Thrombin Defect 74
393 c BSL007 Basal Cell Carcinoma 68
394 ANT009 Antithrombin Iii Deficiency 59
395 P DXT004 Dextro-Looped Transposition of the Great Arteries 58
396 CRC006 Carcinoid Syndrome 55
397 c BSL024 Basal Cell Carcinoma 1 55
398 P ACH011 Achondrogenesis 53
399 P SML001 Small Cell Carcinoma 52
400 P THR015 Thrombophilia 51
401 c ACH042 Achondrogenesis, Type Ib 50
402 c LRG001 Large Cell Carcinoma 48
403 c ACH033 Achondrogenesis, Type Ia 48
404 PLM196 Pulmonary Adenocarcinoma in Situ 36
405 ESP029 Esophageal Atresia/tracheoesophageal Fistula 34
406 c BSL011 Basal Cell Carcinoma, Multiple 27
407 c BSL034 Basal Cell Carcinoma 7 26
408 c THR023 Thrombophilia Due to Thrombomodulin Defect 24
409 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 22
410 FCT013 Factor V Leiden Thrombophilia 20
411 THY044 Thymic-Renal-Anal-Lung Dysplasia 19
412 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
413 c BSL026 Basal Cell Carcinoma 3 15
414 c BSL025 Basal Cell Carcinoma 2 15
415 c BSL028 Basal Cell Carcinoma 5 15
416 GRH002 Graham Boyle Troxell Syndrome 14
417 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
418 c BSL029 Basal Cell Carcinoma 6 13
419 c BSL027 Basal Cell Carcinoma 4 13
420 XLN245 X-Linked Immunodeficiency 74 13
421 c THR126 Thrombophilia Due to Decreased Release of Plat 8
422 c DXT005 Dextro-Looped Transposition of the Great Arteries 3 8
423 c RRH022 Rare Hereditary Thrombophilia 7
424 P ALG028 Alagille Syndrome 1 73
425 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
426 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
427 CNT061 Conotruncal Heart Malformations 66
428 c PRG042 Progressive Familial Heart Block, Type Ia 66
429 P CTS001 Cutis Laxa 65
430 MYP136 Myopathy, Centronuclear, X-Linked 59
431 c PRG126 Progressive Familial Heart Block 58
432 c RGD003 Rigid Spine Muscular Dystrophy 1 56
433 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 55
434 c HRM017 Hermansky-Pudlak Syndrome 2 55
435 c PRG043 Progressive Familial Heart Block, Type Ib 54
436 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
437 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
438 P PNC025 Panic Disorder 52
439 c NML003 Nemaline Myopathy 2 51
440 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
441 P FNC026 Fanconi Renotubular Syndrome 1 49
442 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 48
443 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
444 P NML001 Nemaline Myopathy 48
445 c HRM008 Hermansky-Pudlak Syndrome 5 47
446 c NML004 Nemaline Myopathy 3 47
447 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
448 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
449 c HRM007 Hermansky-Pudlak Syndrome 4 46
450 c CTS041 Cutis Laxa, Autosomal Dominant 3 45
451 OBS037 Obesity-Hypoventilation Syndrome 45
452 P SMK004 Smoking As a Quantitative Trait Locus 3 44
453 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
454 CPM001 Cap Myopathy 44
455 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
456 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 44
457 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 43
458 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
459 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
460 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
461 P HRT035 Heart Block, Congenital 43
462 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
463 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 41
464 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 41
465 BMR001 Boomerang Dysplasia 41
466 HYL005 Hyaline Body Myopathy 41
467 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 40
468 c CTS031 Cutis Laxa, Autosomal Dominant 2 40
469 c NML010 Nemaline Myopathy 7 39
470 ABD010 Abdominal Wall Defect 39
471 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
472 c NML005 Nemaline Myopathy 4 38
473 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
474 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
475 c SVR040 Severe Congenital Nemaline Myopathy 37
476 c MTC078 Mitochondrial Dna Depletion Syndrome 11 37
477 c NML022 Nemaline Myopathy 10 37
478 c JBR042 Joubert Syndrome 23 36
479 c ATL011 Atelosteogenesis, Type I 36
480 c INT274 Intermediate Congenital Nemaline Myopathy 36
481 c NML025 Nemaline Myopathy 8 36
482 MTC037 Mitochondrial Phosphate Carrier Deficiency 35
483 c ALG016 Alagille Syndrome 2 34
484 c NML021 Nemaline Myopathy 9 33
485 c FNC034 Fanconi Renotubular Syndrome 2 33
486 c ATP003 Atp6v0a2-Related Cutis Laxa 32
487 CD8002 Cd8 Deficiency, Familial 32
488 MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 31
489 c NML007 Nemaline Myopathy 6 30
490 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30
491 c PRG101 Progressive Familial Heart Block, Type Ii 28
492 HYP859 Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 27
493 c FNC066 Fanconi Renotubular Syndrome 5 27
494 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 26
495 PRT114 Prothrombin Thrombophilia 25
496 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 24
497 c ACQ027 Acquired Cutis Laxa 24
498 c LTB003 Ltbp4-Related Cutis Laxa 23
499 c FBL003 Fbln5-Related Cutis Laxa 23
500 c ADL068 Adult-Onset Nemaline Myopathy 23
501 c ATS451 Autosomal Recessive Cutis Laxa Type 2 23
502 c FNC049 Fanconi Renotubular Syndrome 3 21
503 LRY027 Laryngeal Papillomatosis 21
504 c EFM001 Efemp2-Related Cutis Laxa 21
505 IMM200 Immunodeficiency 62 19
506 c PNC122 Panic Disorder 1 19
507 c CNG579 Congenital Nemaline Myopathy 18
508 TMM013 Tmem70 Defect 18
509 c PNC070 Panic Disorder 2 13
510 c PNC068 Panic Disorder 3 12
511 PLM053 Pulmonary Artery Agenesis 12
512 c FNC067 Fanconi Renotubular Syndrome 4 10
513 c SMK001 Smoking As a Quantitative Trait Locus 1 9
514 c SMK002 Smoking As a Quantitative Trait Locus 2 7
515 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
516 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 6
517 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
518 ABN008 Abnormal Origin of the Pulmonary Artery 5
519 CNG602 Congenital Anomaly of the Great Arteries 5
520 RRD032 Rare Disorder Potentially Indicated for Lung Transplant 3
521 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
522 RRG022 Rare Genetic Respiratory Disease 3
523 PLM055 Pulmonary Artery Familial Dilatation 2
524 P HRT032 Heart Disease 81
525 PLM134 Pulmonary Fibrosis, Idiopathic 76
526 PLM129 Pulmonary Disease, Chronic Obstructive 74
527 P ASP006 Aspergillosis 72
528 P LPR021 Leprosy 3 71
529 PLM001 Pulmonary Tuberculosis 69
530 P BRG001 Brugada Syndrome 69
531 P INF038 Influenza 68
532 BRN024 Bronchitis 67
533 P PLM036 Pulmonary Fibrosis 66
534 c FML001 Familial Atrial Fibrillation 65
535 P NSP012 Nasopharyngeal Carcinoma 61
536 ADN001 Adenosine Deaminase Deficiency 59
537 ACT029 Acute Interstitial Pneumonia 59
538 P VNT002 Ventricular Septal Defect 58
539 P PLM034 Pulmonary Emphysema 58
540 P OST122 Osteogenesis Imperfecta, Type Iii 57
541 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57
542 P RHN004 Rhinitis 57
543 NWB001 Newborn Respiratory Distress Syndrome 56
544 c OST080 Osteogenesis Imperfecta, Type Ii 56
545 SLC006 Silicosis 56
546 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 55
547 P FBR025 Fibrochondrogenesis 55
548 ACT055 Actinomycosis 55
549 PNM008 Pneumothorax 54
550 c BRG005 Brugada Syndrome 1 54
551 CRY001 Cryptogenic Organizing Pneumonia 54
552 MCN007 Meconium Aspiration Syndrome 53
553 c OST135 Osteogenesis Imperfecta, Type I 53
554 P VSC013 Visceral Heterotaxy 53
555 PLM012 Pulmonary Sarcoidosis 53
556 P ACT105 Acute Mountain Sickness 52
557 RSP019 Respiratory Distress Syndrome in Premature Infants 52
558 MCR088 Microscopic Polyangiitis 51
559 BRN038 Bronchial Disease 51
560 LNG095 Lung Abscess 51
561 ANT018 Anthracosis 51
562 RSP006 Respiratory System Disease 51
563 ASP004 Asphyxia Neonatorum 50
564 ACT017 Acute Chest Syndrome 50
565 PLR008 Pleurisy 50
566 MYC087 Mycoplasma Pneumoniae Pneumonia 49
567 c OST119 Osteogenesis Imperfecta, Type Vii 49
568 c OST121 Osteogenesis Imperfecta, Type Iv 49
569 c INV001 Invasive Aspergillosis 49
570 CHN065 Choanal Atresia, Posterior 48
571 SHR098 Short-Rib Thoracic Dysplasia 12 48
572 IDP074 Idiopathic Bronchiectasis 48
573 c BCT013 Bacterial Pneumonia 48
574 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 48
575 MLR002 Miliary Tuberculosis 47
576 STR103 Streptococcus Pneumonia 47
577 c RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 47
578 SHR044 Short Rib-Polydactyly Syndrome 46
579 c CHR048 Chronic Rhinitis 46
580 SWN001 Swine Influenza 46
581 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 45
582 c FBR029 Fibrochondrogenesis 1 45
583 INF058 Inflammatory Myofibroblastic Tumor 45
584 NSP002 Nasopharyngitis 45
585 IMM088 Immunodeficiency 36 45
586 c BRG004 Brugada Syndrome 4 45
587 c OST132 Osteogenesis Imperfecta, Type Vi 45
588 LYM051 Lymphomatoid Granulomatosis 45
589 ANC002 Anca-Associated Vasculitis 44
590 c OST130 Osteogenesis Imperfecta, Type Ix 43
591 c OST124 Osteogenesis Imperfecta, Type V 43
592 P SDR002 Siderosis 43
593 ASP008 Aspiration Pneumonitis 42
594 CRP002 Croup 42
595 NNS002 Nonspecific Interstitial Pneumonia 42
596 c OST118 Osteogenesis Imperfecta, Type Viii 42
597 c CHR576 Chronic Beryllium Disease 42
598 FRM003 Farmer's Lung 41
599 PNM002 Pneumonic Tularemia 41
600 c ACT249 Acute Asthma 40
601 HTR014 Heterotaxy, Visceral, 1, X-Linked 40
602 c BRG007 Brugada Syndrome 5 39
603 c CNG404 Congenital Heart Defects, Multiple Types, 4 39
604 c OST110 Osteogenesis Imperfecta, Type Xv 39
605 c MCR252 Microphthalmia, Syndromic 5 38
606 c HTR021 Heterotaxy, Visceral, 5, Autosomal 38
607 c OST133 Osteogenesis Imperfecta, Type Xi 38
608 c OST127 Osteogenesis Imperfecta, Type X 38
609 CHY005 Chylothorax, Congenital 37
610 c BRG003 Brugada Syndrome 3 36
611 ETH001 Ethmoid Sinus Adenocarcinoma 36
612 c OST128 Osteogenesis Imperfecta, Type Xii 36
613 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 36
614 c OST123 Osteogenesis Imperfecta, Type Xiii 36
615 BGS001 Bagassosis 35
616 HYP041 Hypochondrogenesis 35
617 PST015 Postinflammatory Pulmonary Fibrosis 34
618 PNB004 Panbronchiolitis, Diffuse 34
619 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 34
620 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 33
621 UPP004 Upper Respiratory Tract Disease 33
622 SCK001 Sick Building Syndrome 33
623 PRC054 Perching Syndrome 33
624 P NSL008 Nasal Cavity Cancer 33
625 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 33
626 ANT002 Anti-Basement Membrane Glomerulonephritis 33
627 BRT013 Baritosis 33
628 BRD003 Bird Fancier's Lung 32
629 BRN133 Bronchomalacia 32
630 HMP003 Hemopneumothorax 32
631 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 32
632 c CLR056 Ciliary Dyskinesia, Primary, 10 32
633 c OST109 Osteogenesis Imperfecta, Type Xiv 32
634 MXL006 Maxillary Sinus Adenocarcinoma 32
635 c BRG008 Brugada Syndrome 6 32
636 LRY002 Laryngostenosis 31
637 c CRN111 Cranioectodermal Dysplasia 4 31
638 c OST169 Osteogenesis Imperfecta, Type Xviii 31
639 c OST170 Osteogenesis Imperfecta, Type Xix 31
640 PLM013 Pulmonary Immaturity 31
641 CPL004 Caplan's Syndrome 31
642 c BRG006 Brugada Syndrome 2 31
643 BLN004 Balantidiasis 31
644 LGN005 Ligneous Conjunctivitis 30
645 c OST138 Osteogenesis Imperfecta, Type Xvii 30
646 c TRC002 Trachea Carcinoma in Situ 30
647 TRC035 Tracheal Agenesis 30
648 LTH001 Lethal Midline Granuloma 30
649 NSL003 Nasal Cavity Adenocarcinoma 30
650 c HTR010 Heterotaxy, Visceral, 4, Autosomal 30
651 CHT006 Chitayat Syndrome 30
652 c BRG012 Brugada Syndrome 9 30
653 c OST139 Osteogenesis Imperfecta, Type Xvi 29
654 BRN137 Bronchial Neuroendocrine Tumor 29
655 c ACT072 Acute Laryngitis 29
656 c VNT028 Ventricular Septal Defect 1 29
657 RGH006 Right Aortic Arch 29
658 CMB041 Combined Oxidative Phosphorylation Deficiency 13 28
659 c CLR135 Ciliary Dyskinesia, Primary, 7 28
660 TRC038 Tracheobronchomegaly 27
661 DFF002 Diffuse Pulmonary Fibrosis 27
662 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
663 TRC001 Trachea Leiomyoma 26
664 YNG002 Young Syndrome 26
665 P IDP090 Idiopathic Eosinophilic Pneumonia 26
666 c FBR030 Fibrochondrogenesis 2 26
667 CHL079 Children's Interstitial Lung Disease 26
668 TRC018 Tracheal Lymphoma 26
669 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 26
670 MXL008 Maxillary Sinus Cancer 26
671 c CLR123 Ciliary Dyskinesia, Primary, 37 26
672 PLS031 Plastic Bronchitis 25
673 P BNG022 Benign Pleural Mesothelioma 25
674 c BRG010 Brugada Syndrome 8 25
675 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
676 PLM015 Pulmonary Systemic Sclerosis 25
677 GLY094 Glycine Encephalopathy with Normal Serum Glycine 24
678 c BRG009 Brugada Syndrome 7 24
679 c BRN145 Bronchiectasis 3 24
680 c CNG521 Congenital Heart Defects, Multiple Types, 5 24
681 MTC209 Mitochondrial Complex Iv Deficiency, Nuclear Type 6 24
682 c HTR023 Heterotaxy, Visceral, 6, Autosomal 24
683 c VNT026 Ventricular Septal Defect 2 24
684 c BRN143 Bronchiectasis 1 23
685 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 23
686 NRD081 Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 23
687 c DPH016 Diaphragmatic Hernia 3 23
688 VNT001 Ventilation Pneumonitis 23
689 ACR020 Acropectorovertebral Dysplasia 23
690 c CLR140 Ciliary Dyskinesia, Primary, 40 23
691 CMB047 Combined Oxidative Phosphorylation Deficiency 18 23
692 CMB072 Combined Oxidative Phosphorylation Deficiency 28 23
693 c CLR090 Ciliary Dyskinesia, Primary, 22 23
694 TRC037 Tracheobronchomalacia 23
695 END006 Endobronchial Lipoma 23
696 c CLR054 Ciliary Dyskinesia, Primary, 12 23
697 BRN040 Bronchus Adenoma 23
698 HYP015 Hyperlucent Lung 23
699 c HTR020 Heterotaxy, Visceral, 8, Autosomal 23
700 c OST178 Osteogenesis Imperfecta, Type Xxi 22
701 END019 Endobronchial Leiomyoma 22
702 c CLR139 Ciliary Dyskinesia, Primary, 39 22
703 MLT013 Malt Worker's Lung 22
704 c CNG511 Congenital Heart Defects, Multiple Types, 2 22
705 TXC007 Toxic Pneumonitis 22
706 c CLR143 Ciliary Dyskinesia, Primary, 43 22
707 ATR024 Atrial Fibrillation and Stroke 22
708 ETH008 Ethmoid Sinus Cancer 22
709 LYM001 Lymphohistiocytoid Mesothelioma 21
710 c CLR088 Ciliary Dyskinesia, Primary, 21 21
711 c CLR124 Ciliary Dyskinesia, Primary, 34 20
712 c LCL003 Localized Pulmonary Fibrosis 20
713 ALV003 Alveoli Adenoma 20
714 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 20
715 P SNS011 Sinus Cancer 19
716 FRN004 Frontal Sinus Inverted Papilloma 19
717 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
718 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 18
719 MXL005 Maxillary Sinus Inverted Papilloma 18
720 c CLR141 Ciliary Dyskinesia, Primary, 41 18
721 KMM002 Kommerell Diverticulum 17
722 ASP038 Aspirin-Induced Respiratory Disease 16
723 MTC227 Mitochondrial Complex Iv Deficiency, Nuclear Type 20 16
724 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
725 MSP003 Misophonia 16
726 MTC222 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 16
727 c LPR016 Leprosy 4 16
728 c LPR020 Leprosy 6 16
729 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 15
730 ALM003 Aluminosis 15
731 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 15
732 c INF136 Influenza, Severe 15
733 CNG243 Congenital Subglottic Stenosis 15
734 HNR001 Heiner Syndrome 15
735 SPH005 Sphenoid Sinus Inverted Papilloma 14
736 SBG002 Subglottic Angioma 13
737 PRS111 Persistent Fifth Aortic Arch 13
738 c HTR012 Heterotaxy, Visceral, 3, Autosomal 13
739 CHR468 Chronic Pneumonitis of Infancy 13
740 TRC019 Trachea Sarcoma 13
741 c FRN009 Frontal Sinus Cancer 11
742 THR122 Thoracic Malformation 11
743 c EMP012 Emphysema, Hereditary Pulmonary 10
744 ETH006 Ethmoid Sinus Inverted Papilloma 9
745 c NSL007 Nasal Cavity Carcinoma in Situ 9
746 c PLR020 Pleuropulmonary Blastoma Type 3 9
747 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 8
748 SPR015 Supraglottis Verrucous Carcinoma 8
749 NSL002 Nasal Vestibule Papilloma 8
750 GLT001 Glottis Neoplasm 7
751 TRN052 Transient Hyperammonemia of the Newborn 7
752 c SDR001 Siderosis of Eye 7
753 MXL003 Maxillary Sinus Schneiderian Papilloma 7
754 FRN001 Frontal Sinus Schneiderian Papilloma 6
755 SPH022 Sphenoidal Sinus Benign Neoplasm 6
756 c ADL100 Adult-Onset Severe Asthma 6
757 OCC014 Occupational Allergic Alveolitis 5
758 c INF192 Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia 5
759 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 5
760 ELZ001 Elizabethkingia Anophelis Infection 4
761 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
762 HSL001 House Allergic Alveolitis 4
763 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
764 MTH085 Methyl Isocyanate Allergic Asthma 4
765 NCK003 Nickel Allergic Asthma 4
766 TRM027 Trimellitic Anhydride Allergic Asthma 4
767 MLC007 Maleic Anhydride Allergic Asthma 4
768 CBL010 Cobalt Allergic Asthma 4
769 SCN073 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease 4
770 NRL012 Neurological Manifestations of Pompe Disease 4
771 ENC035 Encircling Double Aortic Arch 4
772 c PRN030 Paranasal Sinus Cancer, Adult 3
773 RSP025 Respiratory or Thoracic Malformation 3
774 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 51
775 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 46
776 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 38
777 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 33
778 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
779 46X054 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 26
780 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 32
781 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 23
782 c PLM195 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 19
783 PRS030 Persistent Fetal Circulation Syndrome 49
784 RRL004 Rare Allergic Respiratory Disease 5
785 P PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
786 c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63
787 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
788 PRR007 Perry Syndrome 52
789 P RNL028 Renal Tubular Dysgenesis 51
790 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 43
791 KTL001 Keutel Syndrome 41
792 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 23
793 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 6
794 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 27
795 c SPN225 Spondyloarthropathy 1 70
796 P HYP035 Hypophosphatasia 62
797 c HYP292 Hypophosphatasia, Infantile 55
798 P SPN052 Spondyloarthropathy 55
799 c HYP293 Hypophosphatasia, Adult 51
800 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 50
801 c JBR004 Joubert Syndrome 2 48
802 IMM194 Immunodeficiency 59 and Hypoglycemia 25
803 c JVN047 Juvenile Spondyloarthropathy 24
804 c SPN226 Spondyloarthropathy 2 15
805 c SPN256 Spondyloarthropathy 3 11
806 HRD065 Hordnes Engebretsen Knudtson Syndrome 5
807 P RHM011 Rheumatoid Arthritis 82
808 P RSP003 Respiratory Failure 74
809 c ART115 Aortic Valve Disease 1 74
810 P LNG064 Lung Cancer Susceptibility 3 70
811 LYM007 Lymphangioleiomyomatosis 68
812 c MCP052 Mucopolysaccharidosis, Type Vi 67
813 P MSC005 Muscular Dystrophy 67
814 P TMR010 Tumor Predisposition Syndrome 67
815 c ART101 Aortic Valve Disease 2 66
816 WLF001 Wolff-Parkinson-White Syndrome 65
817 P HYP055 Hypoplastic Left Heart Syndrome 65
818 c LCL006 Localized Scleroderma 65
819 TBC004 Tobacco Addiction 63
820 LNG099 Lung Disease 62
821 c MCP047 Mucopolysaccharidosis, Type Iva 62
822 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
823 TKY002 Takayasu Arteritis 62
824 c CLR131 Ciliary Dyskinesia, Primary, 1 61
825 c MCR256 Microphthalmia, Syndromic 9 61
826 P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60
827 P BRN022 Bronchiectasis 60
828 IDP011 Idiopathic Interstitial Pneumonia 59
829 c SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 59
830 CHL028 Childhood Type Dermatomyositis 59
831 PNM010 Pneumothorax, Primary Spontaneous 58
832 LNG108 Langerhans Cell Histiocytosis 58
833 DST005 Diastrophic Dysplasia 57
834 GRN051 Granulomatous Disease, Chronic, X-Linked 57
835 BRN002 Bronchiolitis 57
836 TNS005 Tonsillitis 57
837 ALV002 Alveolar Echinococcosis 57
838 BRN056 Bronchopulmonary Dysplasia 56
839 BRN012 Bronchiolitis Obliterans 56
840 ALL006 Allergic Asthma 56
841 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 56
842 LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56
843 P CRB154 Cerebrocostomandibular Syndrome 56
844 c MYP072 Myopathy, Myofibrillar, 1 55
845 c SPN395 Spinal Muscular Atrophy, Type Ii 55
846 c ORF034 Orofaciodigital Syndrome Vi 55
847 PLM010 Pulmonary Edema 55
848 c MCR241 Microphthalmia, Syndromic 3 55
849 HNC001 Henoch-Schoenlein Purpura 54
850 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
851 P LRY044 Larynx Cancer 54
852 P ALL008 Allergic Bronchopulmonary Aspergillosis 54
853 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 53
854 P BNG032 Benign Mesothelioma 53
855 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
856 c VRL005 Viral Pneumonia 53
857 LNG017 Lung Giant Cell Carcinoma 52
858 P ART018 Aortic Valve Insufficiency 52
859 PLR007 Pleural Empyema 51
860 P ESN008 Eosinophilic Pneumonia 50
861 c MTC060 Mitochondrial Dna Depletion Syndrome 9 50
862 c MCR261 Microphthalmia, Syndromic 2 50
863 c MYP078 Myopathy, Myofibrillar, 3 50
864 P BRW001 Brown-Vialetto-Van Laere Syndrome 50
865 P MYF003 Myofibrillar Myopathy 49
866 ADN089 Adenosquamous Lung Carcinoma 49
867 LPR001 Lepromatous Leprosy 49
868 ASP007 Aspiration Pneumonia 49
869 PLM035 Pulmonary Eosinophilia 49
870 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 49
871 c MTC059 Mitochondrial Dna Depletion Syndrome 5 48
872 INP001 Inappropriate Adh Syndrome 48
873 c MYP079 Myopathy, Myofibrillar, 5 48
874 c MTC061 Mitochondrial Dna Depletion Syndrome 1 47
875 c MTC058 Mitochondrial Dna Depletion Syndrome 6 47
876 ASB001 Asbestosis 47
877 PNM005 Pneumonic Plague 47
878 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 47
879 P MTC010 Mitochondrial Dna Depletion Syndrome 47
880 ESN011 Eisenmenger Syndrome 47
881 PLM032 Pulmonary Blastoma 47
882 c MCR245 Microphthalmia, Syndromic 8 46
883 c CNT015 Central Sleep Apnea 46
884 c CHR037 Chronic Eosinophilic Pneumonia 45
885 PLR022 Pleural Disease 45
886 NSD001 Nose Disease 45
887 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 45
888 EXT033 Extrapulmonary Tuberculosis 45
889 LRG014 Large Cell Neuroendocrine Carcinoma 44
890 MDD018 Middle East Respiratory Syndrome 44
891 c SRC023 Sarcoidosis 2 44
892 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 44
893 c MTC062 Mitochondrial Dna Depletion Syndrome 2 43
894 LRY022 Laryngoonychocutaneous Syndrome 43
895 TRC020 Tracheitis 43
896 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
897 MYC013 Mycobacterium Abscessus 42
898 c MLG079 Malignant Pleural Mesothelioma 42
899 P BRN120 Bronchus Cancer 42
900 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 42
901 c NML006 Nemaline Myopathy 5 41
902 c MYP081 Myopathy, Myofibrillar, 6 41
903 P LTH003 Lethal Congenital Contracture Syndrome 41
904 P SCL057 Scoliosis, Isolated 1 40
905 P PRN020 Paranasal Sinus Cancer 40
906 c MYP080 Myopathy, Myofibrillar, 4 40
907 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 40
908 c MYP082 Myopathy, Myofibrillar, 2 40
909 c MCR312 Microphthalmia, Syndromic 10 40
910 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 40
911 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 39
912 ORN001 Ornithosis 39
913 P BRY005 Beryllium Disease 39
914 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 38
915 c GCH013 Gaucher Disease, Type Iiic 38
916 LNG030 Lung Adenoma 37
917 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 37
918 c FTL072 Fetal Akinesia Deformation Sequence 4 37
919 CRD245 Cardiac-Urogenital Syndrome 37
920 P ACR106 Acrocephalopolysyndactyly Type Iii 37
921 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 37
922 c FTL070 Fetal Akinesia Deformation Sequence 2 36
923 MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36
924 NNT004 Neonatal Respiratory Failure 36
925 PLM018 Pulmonary Sclerosing Hemangioma 36
926 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35
927 c MSC050 Muscular Dystrophy, Congenital, 1b 35
928 TRC025 Tracheal Cancer 34
929 P SYN165 Syndromic Microphthalmia 34
930 PLM180 Pulmonary Artery Disease 34
931 CMB044 Combined Oxidative Phosphorylation Deficiency 14 33
932 LNG019 Lung Combined Type Small Cell Carcinoma 32
933 PRN029 Parainfluenza Virus Type 3 32
934 HYP223 Hypoplastic Right Heart Syndrome 32
935 LNG091 Lung Mucoepidermoid Carcinoma 32
936 c CNG112 Congenital Muscular Dystrophy Type 1a 32
937 c PRG106 Progressive Muscular Dystrophy 32
938 c MYP119 Myopathy, Myofibrillar, 7 31
939 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
940 TRC115 Tracheopathia Osteoplastica 31
941 c CLR094 Ciliary Dyskinesia, Primary, 28 31
942 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 31
943 PLM028 Pulmonary Coin Lesion 30
944 c CLR106 Ciliary Dyskinesia, Primary, 26 30
945 NSL028 Nasal Cavity Benign Neoplasm 30
946 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 30
947 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 30
948 c CLR134 Ciliary Dyskinesia, Primary, 3 30
949 LFF002 Loeffler Syndrome 30
950 c FTL071 Fetal Akinesia Deformation Sequence 3 30
951 c MYP118 Myopathy, Myofibrillar, 8 30
952 c MCR228 Microphthalmia, Syndromic 13 30
953 c ORF041 Orofaciodigital Syndrome X 30
954 EPT003 Epithelioid Trophoblastic Tumor 30
955 NSL004 Nasal Cavity Lymphoma 29
956 ADS001 Adiaspiromycosis 29
957 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 29
958 c CLR102 Ciliary Dyskinesia, Primary, 17 29
959 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
960 MXL004 Maxillary Sinus Squamous Cell Carcinoma 29
961 NSL006 Nasal Cavity Squamous Cell Carcinoma 28
962 GLT004 Glottis Squamous Cell Carcinoma 28
963 c CLR069 Ciliary Dyskinesia, Primary, 8 28
964 c CLR104 Ciliary Dyskinesia, Primary, 15 28
965 RSP004 Respiratory System Benign Neoplasm 28
966 PNT001 Pontiac Fever 28
967 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 28
968 NSL005 Nasal Cavity Olfactory Neuroblastoma 27
969 c CLR091 Ciliary Dyskinesia, Primary, 14 27
970 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 27
971 CLF051 Cleft Larynx, Posterior 27
972 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 27
973 c FHT001 Fh Tumor Predisposition Syndrome 27
974 TRC014 Trachea Adenoid Cystic Carcinoma 27
975 SBG001 Subglottis Neoplasm 26
976 WTB001 Wet Beriberi 26
977 CRK001 Cork-Handlers' Disease 26
978 c LNG109 Lung Cancer Susceptibility 1 26
979 c CLR125 Ciliary Dyskinesia, Primary, 33 26
980 EPG001 Epiglottis Neoplasm 26
981 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
982 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 25
983 CPL001 Capillariasis 25
984 LNG036 Lung Leiomyoma 25
985 CMB085 Combined Oxidative Phosphorylation Deficiency 35 25
986 c VRL001 Viral Laryngitis 24
987 c VNT024 Ventricular Septal Defect 3 24
988 SCH010 Schneiderian Carcinoma 24
989 c HRM020 Hermansky-Pudlak Syndrome 10 24
990 CLS002 Classic Pulmonary Blastoma 24
991 c CLR053 Ciliary Dyskinesia, Primary, 11 24
992 c CLR101 Ciliary Dyskinesia, Primary, 25 24
993 c CLR098 Ciliary Dyskinesia, Primary, 27 24
994 c MTC182 Mitochondrial Dna Depletion Syndrome 16 23
995 PRN002 Paranasal Sinus Lymphoma 23
996 c MCR217 Microphthalmia, Syndromic 11 23
997 c LTH029 Lethal Congenital Contracture Syndrome 9 23
998 SPR023 Supraglottis Squamous Cell Carcinoma 23
999 c CLR099 Ciliary Dyskinesia, Primary, 16 23
1000 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 23
1001 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 23
1002 c ORF051 Orofaciodigital Syndrome Xvii 22
1003 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
1004 PRP011 Puerperal Pulmonary Embolism 22
1005 c ART159 Aortic Valve Disease 3 22
1006 c CLR107 Ciliary Dyskinesia, Primary, 24 22
1007 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 22
1008 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1009 HMN012 Hemangioma of Lung 22
1010 EPG002 Epiglottis Cancer 21
1011 MYP154 Myopathy, Congenital, with Fast-Twitch Fiber Atrophy 21
1012 BRN148 Bronchial Benign Neoplasm 21
1013 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 21
1014 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1015 c CLR126 Ciliary Dyskinesia, Primary, 35 21
1016 DST013 Distal Myopathy with Vocal Cord Weakness 20
1017 CMB098 Combined Oxidative Phosphorylation Deficiency 42 20
1018 c MYF011 Myofibrillar Myopathy 10 20
1019 SLD013 Solid Adenocarcinoma with Mucin Production 20
1020 MXL018 Maxillary Sinus Benign Neoplasm 20
1021 c ADL080 Adult Acute Respiratory Distress Syndrome 20
1022 HYD053 Hydrocephalus with Associated Malformations 20
1023 LRY020 Larynx Sarcoma 20
1024 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1025 IMM196 Immunodeficiency 15a 19
1026 SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 19
1027 HTR026 Heterotaxy, Visceral, 9, Autosomal, with Male Infertility 19
1028 c CLR144 Ciliary Dyskinesia, Primary, 44 19
1029 c LPR017 Leprosy 5 19
1030 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 18
1031 HYP692 Hypersensitivity Pneumonitis, Familial 18
1032 c PLM044 Pulmonary Fibrosis, Familial 18
1033 c ACR108 Acrocephalopolysyndactyly Type Iv 18
1034 SGN005 Signet Ring Lung Adenocarcinoma 18
1035 SPR022 Supraglottis Neoplasm 18
1036 FRN058 Frontal Sinus Benign Neoplasm 17
1037 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 17
1038 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
1039 PLM108 Pulmonary Interstitial Glycogenosis 17
1040 c SCL049 Scoliosis, Isolated 3 17
1041 DYS135 Dysphagia Lusoria 16
1042 PRM133 Primary Pulmonary Lymphoma 16
1043 PLM002 Pulmonary Plasma Cell Granuloma 16
1044 P PLM179 Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia 16
1045 c CNG121 Congenital Pulmonary Alveolar Proteinosis 16
1046 c MTC014 Mitochondrial Dna Deletion Syndromes 16
1047 c MYF012 Myofibrillar Myopathy 11 15
1048 SPN155 Spondylospinal Thoracic Dysostosis 15
1049 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 15
1050 ISL118 Isolated Tracheoesophageal Fistula 15
1051 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 14
1052 MNB001 Main Bronchus Cancer 13
1053 CST006 Costocoracoid Ligament, Congenitally Short 13
1054 P CNG396 Congenital Pulmonary Airway Malformation Type 2 13
1055 c CNG397 Congenital Pulmonary Airway Malformation Type 3 13
1056 FRN005 Frontal Sinus Squamous Cell Carcinoma 12
1057 c CNG398 Congenital Pulmonary Airway Malformation Type 1 12
1058 ISL036 Isolated Pulmonary Capillaritis 12
1059 MPL002 Maple Bark Strippers' Lung 12
1060 c SCL058 Scoliosis, Isolated 2 12
1061 TRC017 Trachea Squamous Cell Carcinoma 11
1062 c LNG086 Lung Cancer Susceptibility 5 11
1063 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 11
1064 PLM190 Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia 11
1065 c ACQ070 Acquired Laryngomalacia 10
1066 c SCL059 Scoliosis, Isolated 4 10
1067 c SCL060 Scoliosis, Isolated 5 10
1068 LRY001 Larynx Leiomyoma 10
1069 c LRY009 Larynx Carcinoma in Situ 10
1070 c LRY051 Laryngotracheoesophageal Cleft Type 1 9
1071 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 9
1072 c CNG406 Congenital Pulmonary Airway Malformation Type 0 9
1073 MSH001 Mushroom Workers' Lung 9
1074 SBG004 Subglottis Squamous Cell Carcinoma 9
1075 LRY008 Larynx Liposarcoma 9
1076 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 8
1077 RRP031 Rare Pulmonary Disease 8
1078 P INT354 Interstitial Lung Disease Specific to Childhood 8
1079 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 8
1080 PRN003 Paranasal Sinus Sarcoma 8
1081 SBG003 Subglottis Verrucous Carcinoma 7
1082 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 7
1083 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
1084 c CRB078 Cerebrocostomandibular-Like Syndrome 7
1085 GLT003 Glottis Verrucous Carcinoma 7
1086 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 7
1087 SPH008 Sphenoidal Sinus Cancer 7
1088 c PLR019 Pleuropulmonary Blastoma Type 2 7
1089 EPT004 Epithelial Predominant Pulmonary Blastoma 7
1090 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
1091 BRN010 Bronchial Mucus Gland Adenoma 6
1092 ETH015 Ethmoidal Sinus Benign Neoplasm 6
1093 INT351 Interstitial Lung Disease Specific to Infancy 6
1094 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
1095 c LRY048 Laryngotracheoesophageal Cleft Type 0 6
1096 INT186 Intralobar Congenital Pulmonary Sequestration 6
1097 ISC018 Isocyanates Allergic Asthma 5
1098 P INT352 Interstitial Lung Disease Specific to Adulthood 5
1099 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 5
1100 UNS002 Unspecified Juvenile Idiopathic Arthritis 5
1101 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
1102 LRY006 Larynx Squamous Papilloma 5
1103 EXP006 Exposure-Related Interstitial Lung Disease 5
1104 c BRN001 Bronchus Carcinoma in Situ 5
1105 LNG010 Lung Clear Cell-Sugar-Tumor 4
1106 LNG090 Lung Combined Type Small Cell Adenocarcinoma 4
1107 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
1108 MRP005 Meropenem Allergy 4
1109 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
1110 RSP022 Respiratory Malformation 4
1111 SCN072 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease 4
1112 SCN074 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease 4
1113 SCN076 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease 4
1114 c PRM307 Primary Interstitial Lung Disease Specific to Adulthood 4
1115 SCN078 Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease 4
1116 PLM192 Pulmonary Hypertension with Unclear Multifactorial Mechanism 4
1117 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
1118 PHT014 Phthalic Anhydride Allergic Asthma 3
1119 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
1120 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
1121 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1122 PLM107 Pulmonary Fungal Infections in Patients Deemed at Risk 3
1123 SYN108 Syndrome with Pulmonary Hypertension As a Major Feature 3
1124 RRB010 Rare Bronchopulmonary Tumor 3
1125 c CHR630 Chorea, Benign Hereditary 41
1126 P CHR636 Chorea, Benign Familial 12
1127 P GCH001 Gaucher's Disease 70
1128 P LVR013 Liver Disease 69
1129 P CHR012 Chronic Granulomatous Disease 69
1130 c NMN015 Niemann-Pick Disease, Type C1 68
1131 c GCH015 Gaucher Disease, Type I 68
1132 P PNM007 Pneumonia 67
1133 P CRD119 Cardiac Arrest 67
1134 c JVN010 Juvenile Rheumatoid Arthritis 66
1135 c ATS013 Autosomal Recessive Congenital Ichthyosis 66
1136 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 66
1137 P HRD008 Hereditary Hemorrhagic Telangiectasia 65
1138 P SPN046 Spinal Muscular Atrophy 63
1139 AVN001 Avian Influenza 61
1140 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61
1141 P NMN002 Niemann-Pick Disease 60
1142 INT066 Interstitial Lung Disease 60
1143 c MCP044 Mucopolysaccharidosis, Type Iiib 59
1144 P MYC008 Myocarditis 59
1145 c ORF037 Orofaciodigital Syndrome I 59
1146 c ACT134 Acute Liver Failure 59
1147 c THR082 Thrombophilia Due to Activated Protein C Resistance 59
1148 P END033 Endocarditis 58
1149 TTL012 Total Anomalous Pulmonary Venous Return 1 58
1150 PHR003 Pharyngitis 58
1151 EXT034 Extrinsic Allergic Alveolitis 57
1152 IRN002 Iron Metabolism Disease 57
1153 P THY032 Thyroiditis 57
1154 P ICH004 Ichthyosis 56
1155 BRN015 Bronchiolo-Alveolar Adenocarcinoma 55
1156 P FML068 Familial Hypocalciuric Hypercalcemia 55
1157 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54
1158 PRC002 Paracoccidioidomycosis 54
1159 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 53
1160 P PLM006 Pulmonary Alveolar Proteinosis 53
1161 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 53
1162 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 52
1163 c SPN394 Spinal Muscular Atrophy, Type Iii 52
1164 P LMB006 Limb-Girdle Muscular Dystrophy 52
1165 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
1166 LNG031 Lung Benign Neoplasm 51
1167 c SPN393 Spinal Muscular Atrophy, Type I 51
1168 LNG020 Lung Oat Cell Carcinoma 51
1169 LYM004 Lymphoid Interstitial Pneumonia 49
1170 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49
1171 c CRN108 Cranioectodermal Dysplasia 1 48
1172 c LYM145 Lymphatic Malformation 5 48
1173 c ORF035 Orofaciodigital Syndrome Iv 48
1174 P RCR004 Recurrent Respiratory Papillomatosis 48
1175 P LRY029 Laryngomalacia 48
1176 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 48
1177 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47
1178 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47
1179 c ACT076 Acute Myocarditis 47
1180 c LYM144 Lymphatic Malformation 1 47
1181 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
1182 NNT049 Nontuberculous Mycobacterial Lung Disease 46
1183 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 44
1184 IMM081 Immunodeficiency 19 44
1185 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 44
1186 c SPN398 Spinal Muscular Atrophy, Type Iv 44
1187 P BRB001 Beriberi 44
1188 P PLM085 Pulmonary Hemosiderosis 44
1189 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
1190 LRY018 Laryngeal Squamous Cell Carcinoma 44
1191 c INF145 Infantile Liver Failure Syndrome 1 43
1192 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 43
1193 c SBC007 Subacute Thyroiditis 43
1194 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 43
1195 NCT003 N-Acetylglutamate Synthase Deficiency 43
1196 P PRX014 Proximal Spinal Muscular Atrophy 42
1197 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
1198 INT304 Interstitial Pneumonitis, Desquamative, Familial 42
1199 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 42
1200 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 42
1201 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 42
1202 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42
1203 PRT014 Protein S Deficiency 41
1204 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 41
1205 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 41
1206 ICH020 Ichthyosis Prematurity Syndrome 40
1207 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 40
1208 c CLR066 Ciliary Dyskinesia, Primary, 2 40
1209 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 40
1210 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 39
1211 c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 39
1212 PHH001 Phaeohyphomycosis 38
1213 SCR015 Scarlet Fever 38
1214 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 38
1215 c LYM150 Lymphatic Malformation 7 38
1216 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 38
1217 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 37
1218 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 37
1219 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 36
1220 LNG115 Lung Sarcomatoid Carcinoma 36
1221 c ATM022 Autoimmune Myocarditis 36
1222 BSL003 Basaloid Lung Carcinoma 35
1223 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 35
1224 SPR006 Sparganosis 35
1225 c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 35
1226 LNG011 Lung Adenoid Cystic Carcinoma 35
1227 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 34
1228 c LTH008 Lethal Congenital Contracture Syndrome 2 34
1229 c CLR059 Ciliary Dyskinesia, Primary, 13 34
1230 c PLM127 Pulmonary Hypertension, Primary, 3 34
1231 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34
1232 c LVR030 Liver Failure, Infantile, Transient 34
1233 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 33
1234 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 33
1235 c SBC003 Subacute Bacterial Endocarditis 33
1236 c CLR095 Ciliary Dyskinesia, Primary, 19 33
1237 c NML024 Nemaline Myopathy 11, Autosomal Recessive 33
1238 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 32
1239 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 32
1240 P PLM182 Pulmonary Hypoplasia, Primary 32
1241 DRF001 Dirofilariasis 32
1242 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 32
1243 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 32
1244 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 32
1245 CYS021 Cystic Adenomatoid Malformation of Lung 32
1246 P TRC024 Trachea Carcinoma 32
1247 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 32
1248 ASB002 Asbestos-Related Lung Carcinoma 32
1249 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 32
1250 MXL016 Maxillonasal Dysplasia, Binder Type 32
1251 P RRL003 Rare Lymphatic Malformation 31
1252 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 31
1253 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
1254 c PST106 Post-Cardiac Arrest Syndrome 31
1255 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 31
1256 LNG013 Lung Lymphoma 31
1257 SPR021 Supraglottis Cancer 31
1258 PLM039 Pulmonary Neuroendocrine Tumor 31
1259 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 30
1260 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 30
1261 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 30
1262 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 30
1263 EMP011 Emphysema, Congenital Lobar 30
1264 c ICH023 Ichthyosis, Acquired 30
1265 PLM007 Pulmonary Aspergilloma 30
1266 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 29
1267 RSP005 Respiratory System Cancer 29
1268 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
1269 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29
1270 c CLR116 Ciliary Dyskinesia, Primary, 29 29
1271 c INF194 Infantile Liver Failure Syndrome 29
1272 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
1273 c ACT053 Acute Thyroiditis 28
1274 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 28
1275 SPR031 Sprengel Deformity 28
1276 BRD005 Borderline Leprosy 28
1277 c LYM149 Lymphatic Malformation 6 28
1278 c PLM121 Pulmonary Hypertension, Primary, 4 28
1279 MCN023 Mucinous Lung Adenocarcinoma 28
1280 c INF138 Infantile Liver Failure Syndrome 2 28
1281 LRY015 Laryngeal Benign Neoplasm 28
1282 LNG037 Lung Sarcoma 27
1283 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 27
1284 CMB091 Combined Oxidative Phosphorylation Deficiency 39 27
1285 IND004 Indeterminate Leprosy 27
1286 c CRN110 Cranioectodermal Dysplasia 3 27
1287 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 27
1288 c DRY002 Dry Beriberi 27
1289 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 26
1290 c LTH047 Lethal Congenital Contracture Syndrome 3 26
1291 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
1292 LRY005 Laryngeal Small Cell Carcinoma 26
1293 THR032 Thoracolaryngopelvic Dysplasia 26
1294 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 26
1295 PRN032 Paraneoplastic Cerebellar Degeneration 25
1296 LNG009 Lung Meningioma 25
1297 P ENC069 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 25
1298 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 25
1299 PRD048 Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome 25
1300 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 25
1301 SMR006 Smarca4-Deficient Sarcoma of Thorax 25
1302 c CLR097 Ciliary Dyskinesia, Primary, 23 25
1303 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
1304 c ENC066 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 25
1305 CMB078 Combined Oxidative Phosphorylation Deficiency 32 25
1306 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 25
1307 HLR002 Hilar Lung Carcinoma 24
1308 c CLR105 Ciliary Dyskinesia, Primary, 20 23
1309 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 23
1310 c CLR117 Ciliary Dyskinesia, Primary, 32 23
1311 c LTH027 Lethal Congenital Contracture Syndrome 5 23
1312 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
1313 c CLR142 Ciliary Dyskinesia, Primary, 42 22
1314 c LYM147 Lymphatic Malformation 3 22
1315 c LYM148 Lymphatic Malformation 4 22
1316 c SPN444 Spinal Muscular Atrophy Type 0 22
1317 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1318 P PLM064 Pulmonary Sequestration 22
1319 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 22
1320 c CNG616 Congenital Heart Defects, Multiple Types, 7 22
1321 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 21
1322 c INF190 Infantile Liver Failure Syndrome 3 21
1323 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 21
1324 LNG016 Lung Papillary Adenocarcinoma 21
1325 c CLR145 Ciliary Dyskinesia, Primary, 45 21
1326 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 21
1327 INF043 Infantile Apnea 21
1328 LNG012 Lung Occult Squamous Cell Carcinoma 20
1329 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 20
1330 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 20
1331 P LNG021 Lung Occult Small Cell Carcinoma 20
1332 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 20
1333 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 19
1334 c LYM155 Lymphatic Malformation 8 19
1335 LRY011 Larynx Verrucous Carcinoma 19
1336 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 19
1337 c SCN051 Secondary Pulmonary Alveolar Proteinosis 18
1338 c INH022 Inherited Ichthyosis 18
1339 c SRC024 Sarcoidosis 3 18
1340 c NSP009 Nasopharyngeal Carcinoma 2 17
1341 c NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1342 c DPH025 Diaphragmatic Hernia 2 17
1343 c INF055 Infectious Myocarditis 17
1344 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 17
1345 LNG022 Lung Acinar Adenocarcinoma 16
1346 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 16
1347 c LYM146 Lymphatic Malformation 2 16
1348 LNG014 Lung Superior Sulcus Carcinoma 15
1349 LNG034 Lung Hilum Cancer 15
1350 c LNG006 Lung Occult Large Cell Carcinoma 14
1351 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
1352 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
1353 c PLM169 Pulmonary Hypertension, Primary, Autosomal Recessive 13
1354 LRY010 Laryngeal Adenoid Cystic Carcinoma 13
1355 FTL048 Fetal Lung Interstitial Tumor 12
1356 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 12
1357 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 12
1358 LNG005 Lung Occult Adenocarcinoma 11
1359 c CNG405 Congenital Pulmonary Airway Malformation Type 4 11
1360 LNG110 Lung Mucinous Cystadenocarcinoma 11
1361 c CNG257 Congenital Pulmonary Sequestration 10
1362 c PLR018 Pleuropulmonary Blastoma Type 1 10
1363 c SCN047 Secondary Pulmonary Hemosiderosis 9
1364 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 9
1365 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 9
1366 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 8
1367 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 8
1368 HLR001 Hilar Lung Neoplasm 8
1369 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 7
1370 LRY012 Laryngeal Cartilage Cancer 7
1371 c ATS439 Autosomal Ichthyosis Syndrome 6
1372 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1373 TRC090 Trachea Mucoepidermoid Carcinoma 5
1374 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
1375 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
1376 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
1377 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
1378 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
1379 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
1380 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
1381 c PLM183 Pulmonary Hypoplasia, Familial Primary 3
1382 LGN002 Legionellosis 62
1383 RSP021 Respiratory Allergy 41
1384 LNG023 Lung Leiomyosarcoma 30
1385 CYS001 Cystic Fibrosis 78
1386 P JBR020 Joubert Syndrome 1 74
1387 P ADL010 Adult Respiratory Distress Syndrome 71
1388 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
1389 BLS001 Blau Syndrome 68
1390 ALP103 Alpha-1-Antitrypsin Deficiency 68
1391 FBR011 Fibrodysplasia Ossificans Progressiva 67
1392 c HRD010 Hereditary Spastic Paraplegia 66
1393 P HRM001 Hermansky-Pudlak Syndrome 65
1394 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 65
1395 GRN037 Granulomatosis with Polyangiitis 64
1396 c NMN013 Niemann-Pick Disease, Type a 63
1397 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 62
1398 P HYP097 Hyperekplexia 62
1399 c HRD002 Hereditary Angioedema 62
1400 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
1401 CHR001 Churg-Strauss Syndrome 61
1402 P PLY041 Polymyositis 59
1403 PLM033 Pulmonary Embolism 58
1404 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
1405 c PRM012 Primary Polycythemia 58
1406 P CRN323 Cranioectodermal Dysplasia 58
1407 LNG039 Lung Squamous Cell Carcinoma 57
1408 MXD005 Mixed Connective Tissue Disease 57
1409 c LSS005 Lissencephaly 1 57
1410 P ULL002 Ullrich Congenital Muscular Dystrophy 1 57
1411 c ANG068 Angioedema, Hereditary, Type I 57
1412 MLT134 Multiple Pterygium Syndrome, Lethal Type 56
1413 P PLY018 Polycythemia 56
1414 c MST023 Mesothelioma, Malignant 56
1415 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
1416 P ANG015 Angioedema 56
1417 FCT006 Factor V Deficiency 56
1418 c LSS006 Lissencephaly 2 55
1419 ANT039 Antisynthetase Syndrome 55
1420 c HRM005 Hermansky-Pudlak Syndrome 1 55
1421 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1422 P LNG035 Lung Large Cell Carcinoma 54
1423 c JBR041 Joubert Syndrome 3 53
1424 c JBR018 Joubert Syndrome 4 52
1425 STR008 Strongyloidiasis 52
1426 ALP077 Alpha-Methylacetoacetic Aciduria 52
1427 P PRR016 Pierre Robin Syndrome 50
1428 P LSS002 Lissencephaly 50
1429 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1430 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 49
1431 c NML002 Nemaline Myopathy 1 49
1432 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
1433 MTT002 Metatropic Dysplasia 49
1434 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
1435 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
1436 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
1437 c JBR012 Joubert Syndrome 5 47
1438 LMT001 Limited Scleroderma 47
1439 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
1440 PDT035 Pediatric Systemic Lupus Erythematosus 47
1441 HRT015 Heritable Pulmonary Arterial Hypertension 46
1442 c HYP543 Hypoplastic Left Heart Syndrome 1 46
1443 c ACQ010 Acquired Polycythemia 46
1444 P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 46
1445 DFF035 Diffuse Cutaneous Systemic Sclerosis 46
1446 c JBR011 Joubert Syndrome 7 46
1447 c JBR014 Joubert Syndrome 9 45
1448 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 45
1449 c HRM012 Hermansky-Pudlak Syndrome 9 45
1450 c JBR035 Joubert Syndrome 24 45
1451 c JBR024 Joubert Syndrome 14 44
1452 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
1453 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
1454 c HYP699 Hyperekplexia 1 44
1455 c JBR025 Joubert Syndrome 17 44
1456 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 44
1457 c JBR013 Joubert Syndrome 8 44
1458 c HRM006 Hermansky-Pudlak Syndrome 3 44
1459 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
1460 TBR006 Tuberculoid Leprosy 43
1461 TRC097 Tracheomalacia 43
1462 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 43
1463 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1464 P SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 43
1465 PST020 Postpoliomyelitis Syndrome 43
1466 TRC026 Tracheal Disease 43
1467 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
1468 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
1469 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1470 c JBR031 Joubert Syndrome 21 42
1471 c JBR016 Joubert Syndrome 10 42
1472 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 42
1473 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
1474 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
1475 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 41
1476 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
1477 c JBR028 Joubert Syndrome 13 41
1478 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
1479 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
1480 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
1481 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
1482 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1483 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 40
1484 INT271 Interstitial Lung and Liver Disease 40
1485 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
1486 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
1487 c ATL015 Atelosteogenesis, Type Ii 40
1488 NSL029 Nasal Type Extranodal Nk/t-Cell Lymphoma 40
1489 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 39
1490 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 39
1491 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 39
1492 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
1493 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
1494 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 38
1495 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
1496 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
1497 c LSS010 Lissencephaly 4 38
1498 c ACQ012 Acquired Angioedema 38
1499 c LSS009 Lissencephaly 3 38
1500 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
1501 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 37
1502 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
1503 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37
1504 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
1505 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
1506 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
1507 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
1508 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
1509 PLM151 Pulmonary Arteriovenous Fistulas 35
1510 c JBR030 Joubert Syndrome 22 34
1511 c JBR022 Joubert Syndrome 20 33
1512 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 33
1513 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 33
1514 c SPS092 Spastic Paraplegia 11 33
1515 c HYP519 Hyperekplexia 3 33
1516 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
1517 c LTH026 Lethal Congenital Contracture Syndrome 4 33
1518 c JBR037 Joubert Syndrome 26 33
1519 P SPS012 Spastic Paraplegia 3a 32
1520 c HRD220 Hereditary Spastic Paraplegia 30 32
1521 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
1522 CTN013 Cutaneous Anthrax 32
1523 CMB054 Combined Oxidative Phosphorylation Deficiency 23 32
1524 INT224 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 31
1525 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 31
1526 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
1527 c JBR036 Joubert Syndrome 25 31
1528 c SPS013 Spastic Paraplegia 8 31
1529 c ANG045 Angioedema, Hereditary, Type Iii 30
1530 c SPS025 Spastic Paraplegia 15 30
1531 c OST176 Osteogenesis Imperfecta, Type Xx 30
1532 c SPS036 Spastic Paraplegia 3 30
1533 SNN002 Sinonasal Undifferentiated Carcinoma 30
1534 c LNG001 Lung Clear Cell Carcinoma 29
1535 c SPS039 Spastic Paraplegia 5a 29
1536 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
1537 c JBR045 Joubert Syndrome 33 29
1538 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1539 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1540 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
1541 c HRD186 Hereditary Spastic Paraplegia 51 29
1542 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
1543 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 28
1544 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
1545 c PLM128 Pulmonary Hypertension, Primary, 2 28
1546 c HRD188 Hereditary Spastic Paraplegia 72 28
1547 c ATS209 Autosomal Dominant Secondary Polycythemia 28
1548 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 28
1549 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
1550 LYM122 Lymphangiectasia, Pulmonary, Congenital 28
1551 c SPS021 Spastic Paraplegia 10 27
1552 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 27
1553 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
1554 c SPS091 Spastic Paraplegia 4 27
1555 c LSS025 Lissencephaly 5 27
1556 HRM018 Hermansky-Pudlak Syndrome with Pulmonary Fibrosis 27
1557 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
1558 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
1559 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 27
1560 c ULL003 Ullrich Congenital Muscular Dystrophy 2 26
1561 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
1562 c SPS041 Spastic Paraplegia 6 26
1563 c HYP510 Hyperekplexia 2 25
1564 c JBR044 Joubert Syndrome 31 25
1565 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 25
1566 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
1567 c JBR040 Joubert Syndrome 30 25
1568 KPS005 Kaposiform Lymphangiomatosis 25
1569 c JBR021 Joubert Syndrome 18 24
1570 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1571 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 24
1572 c LSS035 Lissencephaly 8 24
1573 c JBR039 Joubert Syndrome 28 24
1574 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 24
1575 c JBR027 Joubert Syndrome 16 23
1576 c HYP825 Hyperekplexia 4 23
1577 c JBR043 Joubert Syndrome 32 23
1578 c LSS042 Lissencephaly 10 23
1579 c SPS027 Spastic Paraplegia 17 23
1580 c JBR047 Joubert Syndrome 35 23
1581 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22
1582 c HRD210 Hereditary Spastic Paraplegia 23 22
1583 c HYP517 Hypoplastic Left Heart Syndrome 2 22
1584 TCL026 T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 21
1585 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 21
1586 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
1587 c SPS038 Spastic Paraplegia 39 21
1588 c SPS042 Spastic Paraplegia 9 21
1589 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 21
1590 c SPS023 Spastic Paraplegia 13 21
1591 PLM116 Pulmonary Artery Hypoplasia 21
1592 c JBR038 Joubert Syndrome 27 20
1593 c HRM023 Hermansky-Pudlak Syndrome 11 19
1594 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 19
1595 c LPR023 Leprosy 1 19
1596 c JBR048 Joubert Syndrome 36 19
1597 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 19
1598 LRY003 Laryngeal Mucoepidermoid Carcinoma 18
1599 P NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
1600 c SPS022 Spastic Paraplegia 12 18
1601 c JVN046 Juvenile Polymyositis 17
1602 c JBR049 Joubert Syndrome 37 17
1603 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 17
1604 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 17
1605 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1606 c SPS028 Spastic Paraplegia 18 16
1607 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 16
1608 c MXD051 Mixed Cryoglobulinemia Type Ii 16
1609 c SPS034 Spastic Paraplegia 26 16
1610 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
1611 c SPS032 Spastic Paraplegia 24 14
1612 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1613 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1614 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
1615 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
1616 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
1617 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
1618 c SPS029 Spastic Paraplegia 19 13
1619 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 13
1620 c SPS035 Spastic Paraplegia 29 13
1621 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
1622 c SPR097 Sporadic Hyperekplexia 12
1623 c MXD037 Mixed Cryoglobulinemia Type Iii 12
1624 c SPS024 Spastic Paraplegia 14 12
1625 c SPS165 Spastic Paraplegia 47 12
1626 c SPS161 Spastic Paraplegia 32 11
1627 c SPS026 Spastic Paraplegia 16 11
1628 c SPS033 Spastic Paraplegia 25 11
1629 c ACQ036 Acquired Angioedema Type 2 10
1630 c SPS230 Spastic Paraplegia Type 49 10
1631 c LNG065 Lung Cancer Susceptibility 4 10
1632 CNG564 Congenital Respiratory-Biliary Fistula 9
1633 c CNG266 Congenital Secondary Polycythemia 8
1634 c ACQ028 Acquired Secondary Polycythemia 7
1635 c SPS040 Spastic Paraplegia 5b 7
1636 c ACQ035 Acquired Angioedema Type 1 7
1637 c PLY005 Polycythemia Due to Hypoxia 6
1638 RRR009 Rare Respiratory Tumor 6
1639 c RRP017 Rare Pulmonary Hypertension 5
1640 c RRD018 Rare Disease with Pierre Robin Syndrome 4
1641 c SVR001 Severe Acute Respiratory Syndrome 67
1642 c LNG003 Lung Carcinoma in Situ 36
1643 P AST005 Asthma 76
1644 P PLM037 Pulmonary Hypertension 72
1645 CNT097 Central Hypoventilation Syndrome, Congenital 70
1646 c SML038 Small Cell Cancer of the Lung 69
1647 P PRM011 Primary Ciliary Dyskinesia 69
1648 P FTL069 Fetal Akinesia Deformation Sequence 1 63
1649 c MCP049 Mucopolysaccharidosis, Type Vii 63
1650 P LRS001 Larsen Syndrome 61
1651 P SLP005 Sleep Disorder 61
1652 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 58
1653 MCS006 Macs Syndrome 58
1654 CYS008 Cystic Echinococcosis 57
1655 c NMN016 Niemann-Pick Disease, Type B 56
1656 HNT002 Hantavirus Pulmonary Syndrome 55
1657 GDP001 Goodpasture Syndrome 55
1658 c ACH041 Achondrogenesis, Type Ii 54
1659 c LTH007 Lethal Congenital Contracture Syndrome 1 53
1660 PLM017 Pulmonary Alveolar Microlithiasis 47
1661 TXC011 Toxocariasis 46
1662 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1663 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 46
1664 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 45
1665 P PLM025 Pulmonary Venoocclusive Disease 44
1666 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 44
1667 FSC002 Fascioliasis 44
1668 c ORF033 Orofaciodigital Syndrome V 43
1669 YLL001 Yellow Nail Syndrome 42
1670 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 41
1671 c LRS002 Larsen-Like Syndrome 39
1672 c HRM010 Hermansky-Pudlak Syndrome 7 38
1673 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 38
1674 c ORF043 Orofaciodigital Syndrome Ix 35
1675 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 32
1676 HYP193 Hypocomplementemic Urticarial Vasculitis 32
1677 MGL033 Megalocornea-Mental Retardation Syndrome 29
1678 c MCR212 Microphthalmia, Syndromic 12 28
1679 IMM193 Immunodeficiency 58 28
1680 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
1681 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 27
1682 RNL039 Renal Dysplasia-Limb Defects Syndrome 24
1683 c HYP831 Hyperparathyroidism, Transient Neonatal 24
1684 c ORF052 Orofaciodigital Syndrome Xviii 23
1685 c CLR068 Ciliary Dyskinesia, Primary, 5 23
1686 c LTH039 Lethal Congenital Contracture Syndrome 11 23
1687 P RGD004 Rigid Spine Muscular Dystrophy 22
1688 c LTH031 Lethal Congenital Contracture Syndrome 6 21
1689 c ORF039 Orofaciodigital Syndrome Vii 20
1690 c NSP015 Nasopharyngeal Carcinoma 3 19
1691 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1692 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 15
1693 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 11
1694 c ORF005 Orofaciodigital Syndrome 12 11
1695 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 10
1696 c PSD023 Pseudo-Gaucher Disease 10
1697 c RRS011 Rare Sleep Disorder 9
1698 P HRN027 Hernia, Anterior Diaphragmatic 9
1699 PLM023 Pulmonary Artery Choriocarcinoma 8
1700 PRT037 Pertussis 65
1701 MCR141 Mucormycosis 59
1702 PLG002 Plague 58
1703 c PLM164 Pulmonary Hypertension, Primary, 1 76
1704 c MCP050 Mucopolysaccharidosis, Type Ii 74
1705 c GLY008 Glycogen Storage Disease Ii 72
1706 P SRC025 Sarcoidosis 1 71
1707 P CNG001 Congenital Myasthenic Syndrome 68
1708 c WLM013 Wilms Tumor 1 66
1709 c DPH024 Diaphragmatic Hernia, Congenital 64
1710 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64
1711 BRT002 Birt-Hogg-Dube Syndrome 64
1712 c GLY060 Glycogen Storage Disease Ia 63
1713 c GLY004 Glycogen Storage Disease V 62
1714 c GLY003 Glycogen Storage Disease Iii 60
1715 P GLY013 Glycogen Storage Disease 60
1716 c GLY005 Glycogen Storage Disease Vi 58
1717 c GLY007 Glycogen Storage Disease Iv 58
1718 c GLY011 Glycogen Storage Disease Vii 54
1719 c GCH016 Gaucher Disease, Type Ii 53
1720 c WLM018 Wilms Tumor 5 53
1721 c MYS051 Myasthenic Syndrome, Congenital, 5 53
1722 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 52
1723 c GCH017 Gaucher Disease, Type Iii 52
1724 P ORF001 Orofaciodigital Syndrome 50
1725 c ORF040 Orofaciodigital Syndrome Viii 50
1726 P CRY007 Cryoglobulinemia, Familial Mixed 49
1727 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 48
1728 c HRM009 Hermansky-Pudlak Syndrome 6 45
1729 c JBR015 Joubert Syndrome 6 45
1730 c MYS074 Myasthenic Syndrome, Congenital, 12 45
1731 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45
1732 c GLY098 Glycogen Storage Disease, Type Ixd 45
1733 IMM177 Immunodeficiency 54 44
1734 c GLY097 Glycogen Storage Disease Ixb 44
1735 c MYS052 Myasthenic Syndrome, Congenital, 10 43
1736 c MYS070 Myasthenic Syndrome, Congenital, 19 41
1737 c MYS076 Myasthenic Syndrome, Congenital, 8 40
1738 c MYS078 Myasthenic Syndrome, Congenital, 14 40
1739 c GLY016 Glycogen Storage Disease Ib 40
1740 c MYS075 Myasthenic Syndrome, Congenital, 13 39
1741 2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 39
1742 c GLY009 Glycogen Storage Disease Xv 37
1743 c GLY044 Glycogen Storage Disease Ixc 37
1744 c ORF038 Orofaciodigital Syndrome Iii 36
1745 c MYS067 Myasthenic Syndrome, Congenital, 22 35
1746 c MYS056 Myasthenic Syndrome, Congenital, 17 35
1747 c GLY006 Glycogen Storage Disease Viii 33
1748 c GLY057 Glycogen Storage Disease X 33
1749 c MYS064 Myasthenic Syndrome, Congenital, 16 33
1750 c GLY043 Glycogen Storage Disease Xii 30
1751 c GLY017 Glycogen Storage Disease Ic 30
1752 c MYS065 Myasthenic Syndrome, Congenital, 18 30
1753 P HRD009 Hereditary Wilms' Tumor 28
1754 c MYS077 Myasthenic Syndrome, Congenital, 15 28
1755 c GLY023 Glycogen Storage Disease Type 0 27
1756 NCR015 Necrotizing Autoimmune Myopathy 27
1757 LRY013 Laryngeal Neuroendocrine Tumor 27
1758 c GLY093 Glycogen Storage Disease Ixa 26
1759 c FML094 Familial Wilms Tumor 2 25
1760 c WLM011 Wilms Tumor 6 25
1761 c GLY059 Glycogen Storage Disease Xiii 25
1762 c WLM005 Wilms Tumor 2 25
1763 c GLY001 Glycogen Storage Disease Ix 25
1764 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 22
1765 c WLM017 Wilms Tumor 4 18
1766 c WLM015 Wilms Tumor 3 17
1767 P MYC084 Mycobacterium Tuberculosis 1 68
1768 c MYC055 Mycobacterium Tuberculosis 3 15
1769 c MYC054 Mycobacterium Tuberculosis 2 14
1770 c MCP001 Mucopolysaccharidosis Iii 69
1771 P PLR004 Pleuropulmonary Blastoma 65
1772 c MCP004 Mucopolysaccharidosis Iv 61
1773 c SCL052 Scleroderma, Familial Progressive 61
1774 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
1775 PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 49
1776 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 46
1777 c CRN109 Cranioectodermal Dysplasia 2 37
1778 c HRM011 Hermansky-Pudlak Syndrome 8 35
1779 SPN348 Spondylometaphyseal Dysplasia, Axial 32
1780 c ORF042 Orofaciodigital Syndrome Xi 24
1781 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 24
1782 c ORF006 Orofaciodigital Syndrome 13 11
1783 ELL001 Ellis-Van Creveld Syndrome 62
1784 c MCP043 Mucopolysaccharidosis, Type Iiia 61
1785 c MCP048 Mucopolysaccharidosis, Type Ivb 52
1786 c NMN014 Niemann-Pick Disease, Type C2 49
1787 c JBR026 Joubert Syndrome 15 42
1788 c LTH042 Lethal Congenital Contracture Syndrome 10 23
1789 c MCP045 Mucopolysaccharidosis, Type Iiic 59
1790 c DVL033 Developmental and Epileptic Encephalopathy 1 56
1791 c DVL042 Developmental and Epileptic Encephalopathy 14 50
1792 c MCP046 Mucopolysaccharidosis, Type Iiid 50
1793 c DVL029 Developmental and Epileptic Encephalopathy 2 47
1794 c DVL038 Developmental and Epileptic Encephalopathy 7 46
1795 c DVL027 Developmental and Epileptic Encephalopathy 9 45
1796 c DVL037 Developmental and Epileptic Encephalopathy 5 44
1797 c DVL034 Developmental and Epileptic Encephalopathy 3 44
1798 P DVL113 Developmental and Epileptic Encephalopathy 43
1799 c DVL041 Developmental and Epileptic Encephalopathy 13 42
1800 c DVL030 Developmental and Epileptic Encephalopathy 36 40
1801 c DVL039 Developmental and Epileptic Encephalopathy 11 40
1802 c DVL049 Developmental and Epileptic Encephalopathy 23 40
1803 c DVL035 Developmental and Epileptic Encephalopathy 4 39
1804 c DVL036 Developmental and Epileptic Encephalopathy 39 39
1805 c DVL044 Developmental and Epileptic Encephalopathy 16 38
1806 c DVL077 Developmental and Epileptic Encephalopathy 53 38
1807 c DVL028 Developmental and Epileptic Encephalopathy 8 37
1808 c DVL055 Developmental and Epileptic Encephalopathy 29 37
1809 c DVL060 Developmental and Epileptic Encephalopathy 50 36
1810 c DVL052 Developmental and Epileptic Encephalopathy 26 36
1811 c DVL050 Developmental and Epileptic Encephalopathy 24 36
1812 c DVL059 Developmental and Epileptic Encephalopathy 33 34
1813 c DVL040 Developmental and Epileptic Encephalopathy 12 34
1814 c DVL061 Developmental and Epileptic Encephalopathy 34 34
1815 c DVL045 Developmental and Epileptic Encephalopathy 17 33
1816 c DVL100 Developmental and Epileptic Encephalopathy 76 33
1817 c DVL043 Developmental and Epileptic Encephalopathy 15 33
1818 c DVL054 Developmental and Epileptic Encephalopathy 28 32
1819 c DVL053 Developmental and Epileptic Encephalopathy 27 31
1820 c DVL067 Developmental and Epileptic Encephalopathy 42 31
1821 c DVL057 Developmental and Epileptic Encephalopathy 31 29
1822 c DVL103 Developmental and Epileptic Encephalopathy 80 29
1823 c DVL062 Developmental and Epileptic Encephalopathy 35 29
1824 c DVL090 Developmental and Epileptic Encephalopathy 66 29
1825 c DVL048 Developmental and Epileptic Encephalopathy 21 28
1826 c DVL056 Developmental and Epileptic Encephalopathy 30 28
1827 c DVL069 Developmental and Epileptic Encephalopathy 44 27
1828 c DVL099 Developmental and Epileptic Encephalopathy 75 27
1829 c DVL063 Developmental and Epileptic Encephalopathy 37 27
1830 c DVL078 Developmental and Epileptic Encephalopathy 54 27
1831 c DVL046 Developmental and Epileptic Encephalopathy 18 27
1832 c DVL091 Developmental and Epileptic Encephalopathy 67 26
1833 c DVL094 Developmental and Epileptic Encephalopathy 70 26
1834 c DVL076 Developmental and Epileptic Encephalopathy 52 26
1835 c DVL089 Developmental and Epileptic Encephalopathy 65 26
1836 c DVL064 Developmental and Epileptic Encephalopathy 38 25
1837 c DVL058 Developmental and Epileptic Encephalopathy 32 25
1838 c DVL079 Developmental and Epileptic Encephalopathy 55 25
1839 c DVL097 Developmental and Epileptic Encephalopathy 73 25
1840 c DVL088 Developmental and Epileptic Encephalopathy 64 25
1841 c DVL101 Developmental and Epileptic Encephalopathy 78 25
1842 c DVL080 Developmental and Epileptic Encephalopathy 56 25
1843 c DVL075 Developmental and Epileptic Encephalopathy 51 25
1844 c DVL107 Developmental and Epileptic Encephalopathy 84 25
1845 c DVL047 Developmental and Epileptic Encephalopathy 19 25
1846 c DVL066 Developmental and Epileptic Encephalopathy 41 25
1847 c DVL068 Developmental and Epileptic Encephalopathy 43 24
1848 c DVL073 Developmental and Epileptic Encephalopathy 48 24
1849 c DVL109 Developmental and Epileptic Encephalopathy 87 24
1850 c DVL083 Developmental and Epileptic Encephalopathy 59 24
1851 c DVL112 Developmental and Epileptic Encephalopathy 89 24
1852 c DVL093 Developmental and Epileptic Encephalopathy 69 24
1853 c DVL081 Developmental and Epileptic Encephalopathy 57 24
1854 c DVL092 Developmental and Epileptic Encephalopathy 68 24
1855 c DVL104 Developmental and Epileptic Encephalopathy 81 24
1856 c DVL071 Developmental and Epileptic Encephalopathy 46 24
1857 c DVL074 Developmental and Epileptic Encephalopathy 49 24
1858 c DVL072 Developmental and Epileptic Encephalopathy 47 24
1859 c DVL086 Developmental and Epileptic Encephalopathy 62 23
1860 c DVL070 Developmental and Epileptic Encephalopathy 45 23
1861 c DVL087 Developmental and Epileptic Encephalopathy 63 23
1862 c DVL105 Developmental and Epileptic Encephalopathy 82 23
1863 c DVL084 Developmental and Epileptic Encephalopathy 60 23
1864 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 23
1865 c DVL102 Developmental and Epileptic Encephalopathy 79 23
1866 c DVL098 Developmental and Epileptic Encephalopathy 74 23
1867 c DVL095 Developmental and Epileptic Encephalopathy 71 22
1868 c DVL106 Developmental and Epileptic Encephalopathy 83 22
1869 c DVL096 Developmental and Epileptic Encephalopathy 72 22
1870 c DVL085 Developmental and Epileptic Encephalopathy 61 22
1871 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
1872 c DVL082 Developmental and Epileptic Encephalopathy 58 21
1873 c DVL065 Developmental and Epileptic Encephalopathy 40 21
1874 c DVL110 Developmental and Epileptic Encephalopathy 88 20
1875 c DVL108 Developmental and Epileptic Encephalopathy 86 19
1876 c DVL032 Developmental and Epileptic Encephalopathy 90 10
1877 c ORF036 Orofaciodigital Syndrome Xiv 30
1878 c ORF046 Orofaciodigital Syndrome Xvi 24
1879 c ORF045 Orofaciodigital Syndrome Xv 20



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