Respiratory Diseases Category (2014 diseases)


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

# Family MCID Name MIFTS
1 c PLM022 Pulmonary Valve Insufficiency 41
2 PLM041 Pulmonary Valve Stenosis 51
3 P PLM037 Pulmonary Hypertension 73
4 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 54
5 PRG008 Paragonimiasis 36
6 PLM070 Pulmonic Stenosis 58
7 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 46
8 c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 32
9 PNT054 Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal 27
10 P TTR001 Tetralogy of Fallot 70
11 c TTR026 Tetralogy of Fallot Syndrome, Autosomal Recessive 7
12 c SRF007 Surfactant Metabolism Dysfunction, Pulmonary, 5 26
13 PRS030 Persistent Fetal Circulation Syndrome 49
14 c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 45
15 PLM151 Pulmonary Arteriovenous Fistulas 34
16 c TTR029 Tetraamelia Syndrome 2 25
17 RSP002 Respiratory Syncytial Virus Infectious Disease 58
18 ABS016 Absence of the Pulmonary Artery 27
19 PLM067 Pulmonary Valves Agenesis 22
20 PRP101 Peripheral Pulmonary Stenosis 22
21 CHL146 Chloramine T Respiratory Allergy 11
22 P PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 51
23 c PLM139 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 33
24 P CNG042 Congenital Central Hypoventilation Syndrome 67
25 CNT061 Conotruncal Heart Malformations 65
26 c CNT119 Central Hypoventilation Syndrome, Congenital, 1 62
27 INH001 Inhalation Anthrax 44
28 GLB024 Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor 37
29 LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 32
30 PLM124 Pulmonary Hypertension, Neonatal 20
31 P MTC133 Mitochondrial Myopathy 51
32 c MTC116 Mitochondrial Myopathy, Infantile, Transient 44
33 c PLM150 Pulmonary Alveolar Proteinosis, Acquired 43
34 c PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 35
35 PLM058 Pulmonary Atresia with Intact Ventricular Septum 30
36 PLM061 Pulmonary Edema of Mountaineers 26
37 PLM068 Pulmonary Vein Stenosis 25
38 c PLM202 Pulmonary Hypertension, Primary, 5 21
39 c CNG121 Congenital Pulmonary Alveolar Proteinosis 15
40 LGN006 Legionnaire Disease 59
41 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
42 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
43 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
44 c PNT037 Pontocerebellar Hypoplasia, Type 3 49
45 c PNT036 Pontocerebellar Hypoplasia, Type 6 48
46 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
47 P PNT019 Pontocerebellar Hypoplasia 46
48 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
49 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
50 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
51 c PNT032 Pontocerebellar Hypoplasia, Type 9 44
52 c MCR212 Microphthalmia, Syndromic 12 42
53 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
54 CMB014 Combined Oxidative Phosphorylation Deficiency 3 38
55 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
56 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
57 c PNT053 Pontocerebellar Hypoplasia, Type 13 35
58 c PLM121 Pulmonary Hypertension, Primary, 4 35
59 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
60 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
61 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
62 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
63 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
64 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
65 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
66 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
67 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
68 c PNT058 Pontocerebellar Hypoplasia, Type 1f 21
69 IMM271 Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia 21
70 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
71 PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 15
72 RHM002 Rheumatic Pulmonary Valve Disease 14
73 DBL002 Double Outlet Right Ventricle 61
74 WTS001 Watson Syndrome 30
75 BRT055 Breath-Holding Spells 27
76 P PLM064 Pulmonary Sequestration 22
77 c PLM200 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6 20
78 PLM157 Pulmonary Valve Agenesis-Tetralogy of Fallot-Absence of Ductus Arteriosus Syndrome 7
79 P PTN014 Patent Ductus Arteriosus 1 59
80 SPR004 Supravalvular Aortic Stenosis 54
81 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 45
82 c PLM127 Pulmonary Hypertension, Primary, 3 38
83 c PLM128 Pulmonary Hypertension, Primary, 2 33
84 c INT469 Interstitial Lung Disease 1 27
85 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
86 MCR304 Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 20
87 HRM026 Hermansky-Pudlak Syndrome Due to Bloc-2 Deficiency 18
88 ART027 Aorta-Pulmonary Artery Fistula 17
89 PLM065 Pulmonary Supravalvular Stenosis 16
90 HYP692 Hypersensitivity Pneumonitis, Familial 15
91 CNG249 Congenital Pulmonary Venous Return Anomaly 8
92 PLM024 Pulmonary Type Ovarian Small Cell Carcinoma 6
93 P SLP006 Sleep Apnea 69
94 c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 46
95 c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 43
96 P PLM040 Pulmonary Valve Disease 40
97 P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 40
98 c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 35
99 AML066 Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome 32
100 PLM059 Pulmonary Atresia with Ventricular Septal Defect 29
101 c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 25
102 c CNG455 Congenital Aortopulmonary Window 25
103 c MLT167 Multiple Mitochondrial Dysfunctions Syndrome 6 24
104 P ART034 Aortopulmonary Window 22
105 PLM008 Pulmonary Subvalvular Stenosis 21
106 CYS044 Cystic Disease of Lung 15
107 PRQ001 Paraquat Lung 13
108 RWL001 Rowley-Rosenberg Syndrome 11
109 ENL012 Enolase Alpha, Lung-Specific 11
110 c ISC021 Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome 9
111 DBL018 Double Outlet Right Ventricle with Subaortic or Doubly Committed Ventricular Septal Defect with Pulmonary Stenosis 9
112 KSH002 Kashani Strom Utley Syndrome 7
113 DBL016 Double Outlet Right Ventricle with Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy 6
114 HST011 Histoplasmosis 54
115 HRT012 Heart Valve Disease 52
116 P OCL076 Oculopharyngodistal Myopathy 1 36
117 IMM221 Immunodeficiency 74, Covid19-Related, X-Linked 25
118 P BRY005 Beryllium Disease 25
119 c OCL084 Oculopharyngodistal Myopathy 3 23
120 c RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 21
121 c OCL085 Oculopharyngodistal Myopathy 4 21
122 c OCL080 Oculopharyngodistal Myopathy 2 20
123 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 19
124 LNG101 Lung Agenesis, Congenital Heart Defects, and Thumb Anomalies Syndrome 19
125 c CNT121 Central Hypoventilation Syndrome, Congenital, 3 19
126 CNG351 Congenital Partial Pulmonary Venous Return Anomaly 7
127 PLM119 Pulmonary Artery Coming from Patent Ductus Arteriosus 6
128 PLM178 Pulmonary Valve Agenesis-Intact Ventricular Septum-Persistent Ductus Arteriosus Syndrome 6
129 PLM054 Pulmonary Artery Coming from the Aorta 4
130 PLM066 Pulmonary Surfactant Protein B, Deficiency of 2
131 P ATR011 Atrial Fibrillation 66
132 PTN001 Patent Foramen Ovale 63
133 P NTR004 Neutropenia 61
134 c SVR003 Severe Congenital Neutropenia 58
135 c NTR049 Neutropenia, Severe Congenital, 3, Autosomal Recessive 51
136 c SVR107 Severe Congenital Neutropenia 3 44
137 c CLR068 Ciliary Dyskinesia, Primary, 5 43
138 c CLR140 Ciliary Dyskinesia, Primary, 40 38
139 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
140 c SVR106 Severe Congenital Neutropenia 5 37
141 c NTR050 Neutropenia, Severe Congenital, 4, Autosomal Recessive 37
142 c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 36
143 CMB046 Combined Oxidative Phosphorylation Deficiency 11 35
144 c ATS483 Autosomal Dominant Severe Congenital Neutropenia 33
145 c NTR054 Neutropenia, Severe Congenital, 8, Autosomal Dominant 33
146 c CLR125 Ciliary Dyskinesia, Primary, 33 32
147 c SVR104 Severe Congenital Neutropenia 7 31
148 c CLR143 Ciliary Dyskinesia, Primary, 43 30
149 c NTR031 Neutropenia, Severe Congenital, 5, Autosomal Recessive 30
150 c NTR051 Neutropenia, Severe Congenital, 2, Autosomal Dominant 29
151 c SVR109 Severe Congenital Neutropenia 8 28
152 c ATR061 Atrial Fibrillation, Familial, 10 28
153 c NTR044 Neutropenia, Severe Congenital, 7, Autosomal Recessive 27
154 c ATR037 Atrial Fibrillation, Familial, 7 26
155 c NTR034 Neutropenia, Severe Congenital, 6, Autosomal Recessive 25
156 c ATR038 Atrial Fibrillation, Familial, 3 25
157 c ATR035 Atrial Fibrillation, Familial, 6 25
158 c SVR108 Severe Congenital Neutropenia 6 25
159 c ATR059 Atrial Fibrillation, Familial, 11 25
160 c ATR085 Atrial Fibrillation, Familial, 18 24
161 c ATR092 Atrial Fibrillation, Familial, 15 24
162 c CLR142 Ciliary Dyskinesia, Primary, 42 24
163 c NTR056 Neutropenia, Severe Congenital, 9, Autosomal Dominant 23
164 c ATR068 Atrial Fibrillation, Familial, 14 23
165 c ATR070 Atrial Fibrillation, Familial, 9 22
166 c NTR045 Neutropenia, Chronic Familial 22
167 c PTN012 Patent Ductus Arteriosus 3 22
168 c PTN013 Patent Ductus Arteriosus 2 22
169 c ATR026 Atrial Fibrillation, Familial, 1 22
170 c ATR039 Atrial Fibrillation, Familial, 4 21
171 c ATR072 Atrial Fibrillation, Familial, 13 21
172 c SVR103 Severe Congenital Neutropenia 1 20
173 MTC222 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 19
174 c ATR069 Atrial Fibrillation, Familial, 12 19
175 MTC227 Mitochondrial Complex Iv Deficiency, Nuclear Type 20 19
176 c ACQ053 Acquired Neutropenia 17
177 c ATS450 Autosomal Recessive Severe Congenital Neutropenia 17
178 c SVR105 Severe Congenital Neutropenia 2 16
179 PLM062 Pulmonary Hyalinizing Granuloma 15
180 c ATR027 Atrial Fibrillation, Familial, 5 14
181 LBR003 Labrador Lung 14
182 c ELN001 Elane-Related Neutropenia 13
183 c ATR025 Atrial Fibrillation, Familial, 2 13
184 ANM074 Anomalous Origin of Coronary Artery from the Pulmonary Artery 13
185 c ATR028 Atrial Fibrillation, Familial, 8 11
186 SLC011 Silicosiderosis 9
187 ELL004 Ellis Yale Winter Syndrome 7
188 CNG560 Congenital Pulmonary Artery Branch Stenosis 6
189 CLB004 Calabro Syndrome 5
190 ACD012 Acid Anhydride Respiratory Allergy 3
191 APN008 Apnea, Obstructive Sleep 68
192 P CVD001 Covid-19 60
193 P CNT004 Centronuclear Myopathy 54
194 c LTH007 Lethal Congenital Contracture Syndrome 1 53
195 c MYP123 Myopathy, Centronuclear, 1 53
196 P MTC235 Mitochondrial Disease 51
197 c MYP131 Myopathy, Centronuclear, 2 50
198 P TTR031 Tetraamelia Syndrome 48
199 P SPN016 Spondylocostal Dysostosis 45
200 P SMK004 Smoking As a Quantitative Trait Locus 3 44
201 c CHR096 Chronic Pulmonary Heart Disease 41
202 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
203 c NML025 Nemaline Myopathy 8 40
204 P LTH003 Lethal Congenital Contracture Syndrome 39
205 c SVR110 Severe Congenital Neutropenia 4 39
206 c LTH008 Lethal Congenital Contracture Syndrome 2 38
207 c LTH026 Lethal Congenital Contracture Syndrome 4 36
208 c MYP098 Myopathy, Centronuclear, 4 34
209 c CLR098 Ciliary Dyskinesia, Primary, 27 34
210 P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 34
211 c MYP148 Myopathy, Centronuclear, 5 34
212 c CLR090 Ciliary Dyskinesia, Primary, 22 33
213 c CLR116 Ciliary Dyskinesia, Primary, 29 31
214 c CLR106 Ciliary Dyskinesia, Primary, 26 29
215 CRB155 Carbonic Anhydrase Va Deficiency 29
216 c CLR104 Ciliary Dyskinesia, Primary, 15 29
217 c LTH047 Lethal Congenital Contracture Syndrome 3 28
218 c CLR097 Ciliary Dyskinesia, Primary, 23 28
219 ISL083 Isolated Cytochrome C Oxidase Deficiency 28
220 LPY002 Lipoyltransferase 1 Deficiency 27
221 ACR104 Acrofacial Dysostosis Syndrome of Rodriguez 27
222 c CLR102 Ciliary Dyskinesia, Primary, 17 27
223 P ACT080 Acute Pulmonary Heart Disease 27
224 P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 26
225 c CLR117 Ciliary Dyskinesia, Primary, 32 26
226 c LTH029 Lethal Congenital Contracture Syndrome 9 26
227 c TTR028 Tetraamelia Syndrome 1 26
228 c CLR099 Ciliary Dyskinesia, Primary, 16 25
229 c LTH032 Lethal Congenital Contracture Syndrome 7 25
230 c LTH027 Lethal Congenital Contracture Syndrome 5 25
231 c LTH039 Lethal Congenital Contracture Syndrome 11 25
232 c LTH030 Lethal Congenital Contracture Syndrome 8 24
233 ISL082 Isolated Atp Synthase Deficiency 23
234 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
235 c BRN077 Bronchiectasis with or Without Elevated Sweat Chloride 3 23
236 c CLR126 Ciliary Dyskinesia, Primary, 35 23
237 ISL116 Isolated Complex Iii Deficiency 23
238 c LTH031 Lethal Congenital Contracture Syndrome 6 22
239 CRT060 Cor Triatriatum Sinister 22
240 c CLR144 Ciliary Dyskinesia, Primary, 44 21
241 CNT120 Central Hypoventilation Syndrome, Congenital, 2, and Autonomic Dysfunction 21
242 c CLR147 Ciliary Dyskinesia, Primary, 46 19
243 c PRM372 Primary Mitochondrial Disorders 16
244 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 15
245 PLM027 Pulmonary Embolism and Infarction 15
246 RSP008 Respiratory Rhythmicity in Sleep 14
247 ASP009 Aspergillus Niger Infection 14
248 PLM053 Pulmonary Artery Agenesis 13
249 MCS005 Mucus Inspissation of Respiratory Tract 13
250 BRR006 Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 12
251 AGN006 Agnathia-Microstomia-Synotia 11
252 c EMP012 Emphysema, Hereditary Pulmonary 10
253 RSP020 Respiratory Underresponsiveness to Hypoxia and Hypercapnia 10
254 c LNG065 Lung Cancer Susceptibility 4 9
255 GNT107 Genetic Interstitial Lung Disease 9
256 c ISC017 Isca2-Related Mitochondrial Disorder 9
257 CNG602 Congenital Anomaly of the Great Arteries 9
258 c MTC183 Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies 8
259 c SMK001 Smoking As a Quantitative Trait Locus 1 8
260 HMS004 Hemosiderosis, Pulmonary, with Deficiency of Gamma-a Globulin 8
261 PLM168 Pulmonary Bullae Causing Pneumothorax 7
262 PLM199 Pulmonary Fibrosis Predisposition 7
263 c SMK002 Smoking As a Quantitative Trait Locus 2 7
264 HRS043 Horseshoe Kidney-Nievergelt/savarirayan Mesomelic Dysplasia-Seizures-Hypertrichosis-Intellectual Disability-Pulmonary Involvement Syndrome 7
265 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 6
266 c MTC192 Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna 6
267 c MTC190 Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies 6
268 c MTC189 Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna 6
269 ABN008 Abnormal Origin of the Pulmonary Artery 5
270 CNG131 Congenital Unilateral Pulmonary Hypoplasia 5
271 RSP024 Respiratory or Mediastinal Malformation 5
272 RRG022 Rare Genetic Respiratory Disease 4
273 SYN157 Syndromic Respiratory or Mediastinal Malformation 4
274 HRD065 Hordnes Engebretsen Knudtson Syndrome 4
275 NNS063 Non-Syndromic Respiratory or Mediastinal Malformation 3
276 ISL137 Isolated Oxidative Phosphorylation Complex Disorder 3
277 RRD032 Rare Disorder Potentially Indicated for Lung Transplant 3
278 PLM194 Pulmonary Artery or Pulmonary Branch Anomaly 3
279 CLB015 Colobomata Unilobar Lung Heart Defect 3
280 GRW010 Growth Retardation Hydrocephaly Lung Hypoplasia 2
281 GNT072 Genetic Respiratory or Mediastinal Malformation 2
282 GNT059 Genetic Respiratory Malformation 2
283 P LNG032 Lung Cancer 98
284 P RSP003 Respiratory Failure 74
285 P SYS005 Systemic Scleroderma 73
286 c SVR001 Severe Acute Respiratory Syndrome 71
287 GRN037 Granulomatosis with Polyangiitis 65
288 P HYP055 Hypoplastic Left Heart Syndrome 63
289 PNM001 Pneumocystosis 63
290 c SCL052 Scleroderma, Familial Progressive 62
291 CRY005 Cryptococcosis 61
292 c LCL006 Localized Scleroderma 61
293 CMM005 Common Cold 61
294 P PLY041 Polymyositis 58
295 P RHN004 Rhinitis 57
296 P VSC013 Visceral Heterotaxy 56
297 GDP001 Goodpasture Syndrome 55
298 MLR002 Miliary Tuberculosis 52
299 P CRY007 Cryoglobulinemia, Familial Mixed 52
300 BRN014 Bronchopneumonia 52
301 CRY014 Cryptococcal Meningitis 51
302 c HYP699 Hyperekplexia 1 50
303 P BNG032 Benign Mesothelioma 49
304 PLR001 Pleural Tuberculosis 49
305 SWN001 Swine Influenza 48
306 STT002 Status Asthmaticus 48
307 EXT033 Extrapulmonary Tuberculosis 46
308 P TRC005 Tracheal Stenosis 46
309 SHR044 Short Rib-Polydactyly Syndrome 46
310 ADN067 Adenoid Hypertrophy 46
311 c CHR711 Chronic Asthma 46
312 TRC026 Tracheal Disease 45
313 c ACT249 Acute Asthma 44
314 MCC002 Mucocutaneous Leishmaniasis 44
315 c ATL011 Atelosteogenesis, Type I 42
316 OLG020 Oligoarticular Juvenile Idiopathic Arthritis 42
317 c ATL015 Atelosteogenesis, Type Ii 42
318 c GRN064 Granulomatous Disease, Chronic, Autosomal Recessive, 3 42
319 CHL159 Childhood-Onset Asthma 42
320 PRN021 Paranasal Sinus Disease 42
321 c CNT015 Central Sleep Apnea 41
322 LRY017 Laryngeal Disease 41
323 c CLR135 Ciliary Dyskinesia, Primary, 7 40
324 EXR010 Exercise-Induced Bronchoconstriction 40
325 VSM001 Vasomotor Rhinitis 40
326 INT040 Intrinsic Asthma 40
327 c HYP519 Hyperekplexia 3 39
328 c HTR021 Heterotaxy, Visceral, 5, Autosomal 39
329 CGH001 Cough Variant Asthma 39
330 c HYP510 Hyperekplexia 2 39
331 CHY005 Chylothorax, Congenital 38
332 P ACR106 Acrocephalopolysyndactyly Type Iii 38
333 IDP074 Idiopathic Bronchiectasis 38
334 PDT035 Pediatric Systemic Lupus Erythematosus 38
335 c CLR105 Ciliary Dyskinesia, Primary, 20 37
336 OCC016 Occupational Asthma 36
337 P MXL015 Maxillary Sinusitis 36
338 CMB045 Combined Oxidative Phosphorylation Deficiency 19 36
339 INT394 Intermittent Asthma 36
340 c CHR057 Chronic Laryngitis 35
341 P ATL001 Atelosteogenesis 35
342 BLP051 Blepharophimosis-Impaired Intellectual Development Syndrome 34
343 ATR003 Atrophic Rhinitis 34
344 c CNG370 Congenital Tracheal Stenosis 34
345 c ATL012 Atelosteogenesis, Type Iii 34
346 NSP003 Nasopharyngeal Disease 33
347 CHR281 Chronic Hiccups 33
348 PLR005 Pleuropneumonia 33
349 SPN014 Spontaneous Tension Pneumothorax 33
350 EPG003 Epiglottitis 33
351 LPD001 Lipid Pneumonia 33
352 EPT003 Epithelioid Trophoblastic Tumor 32
353 c CHR047 Chronic Ethmoiditis 32
354 SLF002 Silo Filler's Disease 32
355 ETH009 Ethmoid Sinusitis 32
356 P CRD245 Cardiac-Urogenital Syndrome 32
357 c HTR010 Heterotaxy, Visceral, 4, Autosomal 32
358 NSL022 Nasal Cavity Disease 31
359 HMP003 Hemopneumothorax 31
360 c CLR138 Ciliary Dyskinesia, Primary, 38 31
361 c CHR038 Chronic Maxillary Sinusitis 31
362 PNT001 Pontiac Fever 30
363 DFF031 Diffuse Alveolar Hemorrhage 30
364 ACD003 Acid Sphingomyelinase Deficiency 29
365 SPH007 Sphenoid Sinusitis 29
366 c ACT059 Acute Maxillary Sinusitis 29
367 c HYP825 Hyperekplexia 4 29
368 NRF028 Near-Fatal Asthma 29
369 c BRN144 Bronchiectasis 2 28
370 T2H001 T2-High Asthma 28
371 WTB001 Wet Beriberi 28
372 LRY007 Laryngeal Tuberculosis 28
373 THN013 Thunderstorm Triggered Asthma 28
374 T2L001 T2-Low Asthma 28
375 c HTR009 Heterotaxy, Visceral, 2, Autosomal 27
376 LRY004 Laryngotracheitis 27
377 ADN002 Adenoiditis 27
378 P FRN011 Frontal Sinusitis 27
379 c HRM023 Hermansky-Pudlak Syndrome 11 26
380 c HTR020 Heterotaxy, Visceral, 8, Autosomal 26
381 ANT017 Anthracosilicosis 26
382 c HTR023 Heterotaxy, Visceral, 6, Autosomal 26
383 MDD005 Middle Lobe Syndrome 26
384 c BRN075 Bronchiectasis with or Without Elevated Sweat Chloride 2 26
385 c HTR018 Heterotaxy, Visceral, 7, Autosomal 25
386 c ACT035 Acute Frontal Sinusitis 25
387 PRS142 Persistent Mild Asthma 25
388 ANR006 Anaerobic Pneumonia 24
389 c BRN145 Bronchiectasis 3 24
390 P ACT034 Acute Ethmoiditis 24
391 c CLR088 Ciliary Dyskinesia, Primary, 21 24
392 PRS144 Persistent Severe Asthma 24
393 c CNG616 Congenital Heart Defects, Multiple Types, 7 24
394 TBR009 Tuberculous Empyema 24
395 END006 Endobronchial Lipoma 23
396 c JVN046 Juvenile Polymyositis 23
397 VNT036 Ventilator-Induced Diaphragmatic Dysfunction 23
398 END019 Endobronchial Leiomyoma 22
399 c HTR029 Heterotaxy, Visceral, 12, Autosomal 22
400 HYD050 Hydrocephalus, Endocardial Fibroelastosis, and Cataracts 22
401 DBL007 Double Outlet Left Ventricle 22
402 CRT057 Critical Congenital Heart Disease 22
403 c CHR040 Chronic Frontal Sinusitis 22
404 CHR468 Chronic Pneumonitis of Infancy 22
405 ALV003 Alveoli Adenoma 21
406 SBR011 Subaortic Stenosis--Short Stature Syndrome 21
407 UVL006 Uvulitis 21
408 TXC020 Toxic Oil Syndrome 20
409 c ACR108 Acrocephalopolysyndactyly Type Iv 20
410 P HTR027 Heterotaxy, Visceral, 10, Autosomal, with Male Infertility 20
411 c ACQ070 Acquired Laryngomalacia 20
412 ATR024 Atrial Fibrillation and Stroke 19
413 MTC226 Mitochondrial Complex Iv Deficiency, Nuclear Type 19 18
414 FRN004 Frontal Sinus Inverted Papilloma 18
415 CTM001 Catamenial Pneumothorax 18
416 PRS143 Persistent Moderate Asthma 18
417 IDP086 Idiopathic Pleuroparenchymal Fibroelastosis 18
418 c MXD051 Mixed Cryoglobulinemia Type Ii 17
419 CMP003 Compensatory Emphysema 17
420 SWY003 Swyer-James Syndrome 17
421 SPN155 Spondylospinal Thoracic Dysostosis 16
422 ATM088 Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea 16
423 MXL005 Maxillary Sinus Inverted Papilloma 16
424 TRC016 Tracheal Calcification 16
425 CLR149 Ciliary Dyskinesia, Primary, 48, Without Situs Inversus 15
426 c ADL100 Adult-Onset Severe Asthma 15
427 FRS008 Froster-Huch Syndrome 14
428 c HTR012 Heterotaxy, Visceral, 3, Autosomal 14
429 TBR004 Tuberculous Pneumothorax 13
430 SPH005 Sphenoid Sinus Inverted Papilloma 13
431 THR122 Thoracic Malformation 13
432 SLT003 Slate Pneumoconiosis 13
433 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
434 c SPR097 Sporadic Hyperekplexia 12
435 c CHR039 Chronic Sphenoidal Sinusitis 12
436 INT109 Intranuclear Rod Myopathy 11
437 P ACT061 Acute Sphenoidal Sinusitis 11
438 MXL007 Maxillary Sinus Cholesteatoma 11
439 c MYR006 Myrf-Related Cardiac Urogenital Syndrome 10
440 PNM022 Pneumonia Caused by Pseudomonas Aeruginosa Infection 10
441 c PLR018 Pleuropulmonary Blastoma Type 1 9
442 VSC036 Visceral Calciphylaxis 9
443 ETH006 Ethmoid Sinus Inverted Papilloma 9
444 c LRY051 Laryngotracheoesophageal Cleft Type 1 8
445 CNG334 Congenital Esophageal Diverticulum 8
446 c PLR020 Pleuropulmonary Blastoma Type 3 8
447 MD5001 Mda5 Deficiency 8
448 NSL002 Nasal Vestibule Papilloma 7
449 SBG002 Subglottic Angioma 7
450 FRN001 Frontal Sinus Schneiderian Papilloma 6
451 ETH005 Ethmoid Sinus Schneiderian Papilloma 6
452 c PLR019 Pleuropulmonary Blastoma Type 2 6
453 NRL003 Neurilemmoma of the Pleura 4
454 MXD022 Mixed Mineral Dust Pneumoconiosis 4
455 CMM017 Communicating Congenital Bronchopulmonary-Foregut Malformation 4
456 ETH007 Ethmoid Sinus Ectopic Meningioma 4
457 RGH011 Right Pulmonary Artery, Anomalous Origin of, Familial 13
458 c PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 26
459 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
460 TMR016 Tumor Suppressor Gene on Chromosome 11 32
461 ECH003 Echinococcosis 54
462 DCR011 Dicer1 Syndrome 49
463 LYM037 Lymphedema and Cerebral Arteriovenous Anomaly 14
464 TRN079 Transposition of the Great Arteries, Dextro-Looped 69
465 PLM004 Pulmonary Artery Leiomyosarcoma 29
466 c LNG109 Lung Cancer Susceptibility 1 26
467 PLM003 Pulmonary Vein Leiomyosarcoma 22
468 GRH002 Graham Boyle Troxell Syndrome 16
469 IDP017 Idiopathic Dilatation of the Pulmonary Artery 15
470 4VN001 4-Vinylcyclohexene Dioxide Respiratory Allergy 4
471 RMZ001 Remazole Black Respiratory Allergy 4
472 c THR092 Thrombophilia Due to Thrombin Defect 76
473 P RNL028 Renal Tubular Dysgenesis 52
474 P THR015 Thrombophilia 52
475 P TRM004 Trimethylaminuria 49
476 c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 48
477 CRN055 Carney Triad 44
478 P PRM018 Primary Hypertrophic Osteoarthropathy 40
479 c SCN005 Secondary Hypertrophic Osteoarthropathy 38
480 c HYP520 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 29
481 c THR023 Thrombophilia Due to Thrombomodulin Defect 26
482 c HYP759 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 25
483 c PRM209 Primary Trimethylaminuria 23
484 c THR119 Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator 16
485 c PLM183 Pulmonary Hypoplasia, Familial Primary 13
486 c THR126 Thrombophilia Due to Decreased Release of Plat 8
487 c RRH022 Rare Hereditary Thrombophilia 7
488 FML086 Familial Pulmonary Arterial Hypertension Leucopenia and Atrial Septal Defect 7
489 c RNL090 Renal Tubular Dysgenesis Due to Twin-Twin Transfusion 7
490 DFC004 Deficiency Anemia 74
491 P BRL012 Bare Lymphocyte Syndrome, Type Ii 69
492 c BRL011 Bare Lymphocyte Syndrome, Type I 53
493 P STV010 Stuve-Wiedemann Syndrome 1 52
494 BLS002 Blastomycosis 50
495 PTT002 Potter's Syndrome 41
496 P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 33
497 ANM031 Anomalous Left Coronary Artery from the Pulmonary Artery 29
498 FTL076 Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, and Dysmorphic Facies 25
499 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 24
500 c RJB004 Rajab Interstitial Lung Disease with Brain Calcifications 2 23
501 c STV011 Stuve-Wiedemann Syndrome 2 21
502 c BSL007 Basal Cell Carcinoma 67
503 c BSL024 Basal Cell Carcinoma 1 59
504 c RGD003 Rigid Spine Muscular Dystrophy 1 59
505 GST009 Gastroschisis 58
506 CRC006 Carcinoid Syndrome 57
507 IMM240 Immunodeficiency 14a, Autosomal Dominant 55
508 c NML003 Nemaline Myopathy 2 55
509 c ACH042 Achondrogenesis, Type Ib 52
510 P ACH011 Achondrogenesis 50
511 ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 50
512 c ACH033 Achondrogenesis, Type Ia 49
513 c NML004 Nemaline Myopathy 3 47
514 P SML001 Small Cell Carcinoma 46
515 c LRG001 Large Cell Carcinoma 45
516 c NML006 Nemaline Myopathy 5 45
517 ICH020 Ichthyosis Prematurity Syndrome 42
518 CNZ010 Coenzyme Q10 Deficiency, Primary, 7 41
519 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 41
520 c NML005 Nemaline Myopathy 4 39
521 c NML010 Nemaline Myopathy 7 38
522 PLM196 Pulmonary Adenocarcinoma in Situ 36
523 OPS002 Opsismodysplasia 34
524 c NML021 Nemaline Myopathy 9 34
525 XLN245 X-Linked Immunodeficiency 74 33
526 c NML007 Nemaline Myopathy 6 33
527 c SVR040 Severe Congenital Nemaline Myopathy 31
528 CD8002 Cd8 Deficiency, Familial 31
529 ESP029 Esophageal Atresia/tracheoesophageal Fistula 28
530 c INT274 Intermediate Congenital Nemaline Myopathy 27
531 c BSL011 Basal Cell Carcinoma, Multiple 26
532 RNL039 Renal Dysplasia-Limb Defects Syndrome 25
533 AMN019 Amniotic Fluid Embolism 24
534 c ADL068 Adult-Onset Nemaline Myopathy 24
535 c BSL034 Basal Cell Carcinoma 7 21
536 c BSL026 Basal Cell Carcinoma 3 16
537 c BSL025 Basal Cell Carcinoma 2 15
538 c BSL028 Basal Cell Carcinoma 5 15
539 c CNG579 Congenital Nemaline Myopathy 15
540 c BSL029 Basal Cell Carcinoma 6 14
541 c BSL027 Basal Cell Carcinoma 4 13
542 c LNG086 Lung Cancer Susceptibility 5 10
543 P ALG028 Alagille Syndrome 1 74
544 P LVR013 Liver Disease 71
545 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
546 P MSC005 Muscular Dystrophy 66
547 c ACT134 Acute Liver Failure 57
548 P PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54
549 ART035 Arterial Calcification of Infancy 54
550 c ACH041 Achondrogenesis, Type Ii 54
551 P PNC025 Panic Disorder 52
552 P FNC026 Fanconi Renotubular Syndrome 1 51
553 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 50
554 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 49
555 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 48
556 c HRM008 Hermansky-Pudlak Syndrome 5 48
557 HRT039 Heart Defects, Congenital, and Other Congenital Anomalies 47
558 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 47
559 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 47
560 PST020 Postpoliomyelitis Syndrome 46
561 c INF145 Infantile Liver Failure Syndrome 1 45
562 SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 44
563 INF058 Inflammatory Myofibroblastic Tumor 43
564 c HRM007 Hermansky-Pudlak Syndrome 4 41
565 c LVR030 Liver Failure, Infantile, Transient 40
566 c NML022 Nemaline Myopathy 10 39
567 HYP223 Hypoplastic Right Heart Syndrome 37
568 c ALG016 Alagille Syndrome 2 36
569 c FNC034 Fanconi Renotubular Syndrome 2 35
570 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 34
571 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 34
572 CPM001 Cap Myopathy 33
573 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 32
574 MTC037 Mitochondrial Phosphate Carrier Deficiency 32
575 c INF194 Infantile Liver Failure Syndrome 31
576 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 31
577 c INF138 Infantile Liver Failure Syndrome 2 31
578 BLN004 Balantidiasis 30
579 ACT231 Acute Flaccid Myelitis 29
580 P ENC069 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 29
581 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
582 c FNC066 Fanconi Renotubular Syndrome 5 29
583 c ENC066 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 28
584 IMM194 Immunodeficiency 59 and Hypoglycemia 26
585 DST016 Distomatosis 26
586 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
587 c LVR033 Liver Disease, Severe Congenital 25
588 c INF190 Infantile Liver Failure Syndrome 3 25
589 c PRG106 Progressive Muscular Dystrophy 24
590 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
591 PRT114 Prothrombin Thrombophilia 23
592 c FNC049 Fanconi Renotubular Syndrome 3 23
593 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
594 LRY027 Laryngeal Papillomatosis 22
595 TMM013 Tmem70 Defect 21
596 IMM200 Immunodeficiency 62 21
597 c PNC122 Panic Disorder 1 19
598 EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 19
599 MCH007 Meacham Winn Culler Syndrome 16
600 FML079 Familial Nasal Acilia 16
601 c PNC070 Panic Disorder 2 13
602 c PNC068 Panic Disorder 3 13
603 UNL013 Unilateral Absence of a Pulmonary Artery 12
604 c FNC067 Fanconi Renotubular Syndrome 4 10
605 SCM002 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 6
606 CNG599 Congenital Pulmonary Veins Anomaly 3
607 P HRT032 Heart Disease 80
608 P RHM011 Rheumatoid Arthritis 80
609 c ART115 Aortic Valve Disease 1 78
610 c MCP050 Mucopolysaccharidosis, Type Ii 74
611 P ASP006 Aspergillosis 73
612 c NMN015 Niemann-Pick Disease, Type C1 71
613 c ART101 Aortic Valve Disease 2 71
614 P MCP040 Mucopolysaccharidosis-Plus Syndrome 70
615 c MCP052 Mucopolysaccharidosis, Type Vi 70
616 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 69
617 P BRG001 Brugada Syndrome 69
618 PLM001 Pulmonary Tuberculosis 68
619 c HRD010 Hereditary Spastic Paraplegia 68
620 P INF038 Influenza 68
621 c MCP001 Mucopolysaccharidosis Iii 67
622 ALL003 Allergic Rhinitis 66
623 c HRD002 Hereditary Angioedema 66
624 c NMN013 Niemann-Pick Disease, Type a 66
625 c JVN010 Juvenile Rheumatoid Arthritis 66
626 c MCP047 Mucopolysaccharidosis, Type Iva 65
627 MCS006 Macs Syndrome 65
628 c MCP049 Mucopolysaccharidosis, Type Vii 65
629 P PLM036 Pulmonary Fibrosis 65
630 c MCP043 Mucopolysaccharidosis, Type Iiia 64
631 P HRM001 Hermansky-Pudlak Syndrome 63
632 c MCP044 Mucopolysaccharidosis, Type Iiib 62
633 P NSP012 Nasopharyngeal Carcinoma 62
634 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
635 c SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 61
636 c MCP004 Mucopolysaccharidosis Iv 61
637 WLF001 Wolff-Parkinson-White Syndrome 61
638 c MCP045 Mucopolysaccharidosis, Type Iiic 61
639 P NMN002 Niemann-Pick Disease 60
640 P BRN022 Bronchiectasis 59
641 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
642 c ANG070 Angioedema, Hereditary, 1 59
643 c THR082 Thrombophilia Due to Activated Protein C Resistance 59
644 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 58
645 c SPN330 Spondylocostal Dysostosis 5 58
646 PNM006 Pneumoconiosis 58
647 P PLM034 Pulmonary Emphysema 57
648 c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 57
649 c SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 57
650 c HRM005 Hermansky-Pudlak Syndrome 1 57
651 BRN002 Bronchiolitis 57
652 c BRG005 Brugada Syndrome 1 56
653 c MCP048 Mucopolysaccharidosis, Type Ivb 56
654 P PLR004 Pleuropulmonary Blastoma 56
655 c HRM017 Hermansky-Pudlak Syndrome 2 56
656 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
657 c MCP046 Mucopolysaccharidosis, Type Iiid 55
658 PNM008 Pneumothorax 55
659 BRN012 Bronchiolitis Obliterans 55
660 P ANG015 Angioedema 55
661 MLT028 Multiminicore Disease 54
662 c CHR048 Chronic Rhinitis 54
663 P ART018 Aortic Valve Insufficiency 54
664 PLM012 Pulmonary Sarcoidosis 54
665 PLM010 Pulmonary Edema 53
666 c NMN014 Niemann-Pick Disease, Type C2 53
667 P LRY019 Laryngitis 52
668 PLR007 Pleural Empyema 52
669 P PLM006 Pulmonary Alveolar Proteinosis 52
670 RSP006 Respiratory System Disease 52
671 c CHR037 Chronic Eosinophilic Pneumonia 52
672 c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 52
673 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
674 CRY001 Cryptogenic Organizing Pneumonia 51
675 BRN038 Bronchial Disease 51
676 P ESN008 Eosinophilic Pneumonia 51
677 c TMR025 Tumor Predisposition Syndrome 1 51
678 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
679 c SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 51
680 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
681 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
682 LNG095 Lung Abscess 50
683 PLM035 Pulmonary Eosinophilia 50
684 c HRD227 Hereditary Spastic Paraplegia 35 50
685 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 50
686 LMT001 Limited Scleroderma 50
687 SHR098 Short-Rib Thoracic Dysplasia 12 50
688 MCR088 Microscopic Polyangiitis 49
689 c INV001 Invasive Aspergillosis 49
690 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 49
691 c GRN063 Granulomatous Disease, Chronic, Autosomal Recessive, 2 49
692 ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 49
693 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
694 c HRM006 Hermansky-Pudlak Syndrome 3 49
695 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 49
696 PNM005 Pneumonic Plague 49
697 LNG116 Long Covid 49
698 c GRN062 Granulomatous Disease, Chronic, Autosomal Recessive, 1 48
699 c SVR112 Severe Covid-19 48
700 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 48
701 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
702 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
703 P NML001 Nemaline Myopathy 47
704 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
705 AST052 Asthma, Nasal Polyps, and Aspirin Intolerance 47
706 c SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 47
707 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
708 MNC019 Monocarboxylate Transporter 1 Deficiency 47
709 c BRG004 Brugada Syndrome 4 47
710 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
711 c ANG071 Angioedema, Hereditary, 3 47
712 c HRM012 Hermansky-Pudlak Syndrome 9 46
713 HNT002 Hantavirus Pulmonary Syndrome 46
714 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 46
715 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
716 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
717 ASB001 Asbestosis 46
718 PLR008 Pleurisy 46
719 c ART159 Aortic Valve Disease 3 46
720 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 46
721 NSP002 Nasopharyngitis 46
722 P BRB001 Beriberi 45
723 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
724 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
725 MDD018 Middle East Respiratory Syndrome 45
726 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
727 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
728 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 45
729 c HRD220 Hereditary Spastic Paraplegia 30 45
730 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 45
731 ESN011 Eisenmenger Syndrome 44
732 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
733 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
734 c HRD171 Hereditary Pulmonary Alveolar Proteinosis 44
735 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 44
736 c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 44
737 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
738 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
739 c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44
740 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
741 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
742 MTC112 Mitochondrial Dna-Associated Leigh Syndrome 43
743 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
744 c SHR067 Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 43
745 c SHR070 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 43
746 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 43
747 DPH021 Diaphragm Disease 43
748 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
749 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
750 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 43
751 c SHR071 Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly 43
752 BMR001 Boomerang Dysplasia 43
753 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43
754 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
755 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
756 c MCP051 Mucopolysaccharidosis, Type Ix 42
757 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
758 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 42
759 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
760 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 42
761 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
762 NSD001 Nose Disease 42
763 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
764 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
765 c CNG404 Congenital Heart Defects, Multiple Types, 4 41
766 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 41
767 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
768 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
769 HYP041 Hypochondrogenesis 41
770 c CLR094 Ciliary Dyskinesia, Primary, 28 41
771 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
772 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 41
773 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 41
774 IMM088 Immunodeficiency 36 41
775 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
776 c BRG003 Brugada Syndrome 3 40
777 c SPN081 Spondylocostal Dysostosis, Autosomal Recessive 40
778 c JBR015 Joubert Syndrome 6 40
779 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 40
780 c HYP543 Hypoplastic Left Heart Syndrome 1 40
781 c ACQ012 Acquired Angioedema 40
782 LNG030 Lung Adenoma 40
783 c BRG007 Brugada Syndrome 5 40
784 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
785 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
786 c HRM010 Hermansky-Pudlak Syndrome 7 40
787 NNT004 Neonatal Respiratory Failure 39
788 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
789 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
790 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
791 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
792 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 39
793 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 38
794 P PRS124 Presynaptic Congenital Myasthenic Syndromes 38
795 PLM018 Pulmonary Sclerosing Hemangioma 38
796 ORN001 Ornithosis 38
797 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
798 SPN446 Spondylometaphyseal Dysplasia with Corneal Dystrophy 38
799 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
800 c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 37
801 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
802 LRY002 Laryngostenosis 37
803 P THY054 Thyrotoxic Periodic Paralysis 37
804 P ACT105 Acute Mountain Sickness 37
805 c SHR083 Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly 37
806 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
807 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 37
808 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 36
809 LTH001 Lethal Midline Granuloma 36
810 c TMR026 Tumor Predisposition Syndrome 2 36
811 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 36
812 PLM013 Pulmonary Immaturity 36
813 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
814 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
815 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
816 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 36
817 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
818 CLL043 Collagen Vi-Related Dystrophies 35
819 PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 35
820 BRN101 Bronchiolitis Obliterans with Obstructive Pulmonary Disease 35
821 c HRD229 Hereditary Spastic Paraplegia 56 35
822 c SPS092 Spastic Paraplegia 11 35
823 KLB003 Klebsiella Pneumonia 35
824 ACT018 Acute Laryngopharyngitis 34
825 UPP004 Upper Respiratory Tract Disease 34
826 PRC054 Perching Syndrome 34
827 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 34
828 ASB003 Asbestos Intoxication 34
829 P SPS012 Spastic Paraplegia 3a 34
830 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
831 PSR016 Psoriatic Juvenile Idiopathic Arthritis 34
832 c HRD226 Hereditary Spastic Paraplegia 49 33
833 CHT006 Chitayat Syndrome 33
834 ANT002 Anti-Basement Membrane Glomerulonephritis 33
835 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
836 NNT049 Nontuberculous Mycobacterial Lung Disease 33
837 SCK001 Sick Building Syndrome 33
838 c THY084 Thyrotoxic Periodic Paralysis 1 33
839 c THY083 Thyrotoxic Periodic Paralysis 2 33
840 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 33
841 c SPS025 Spastic Paraplegia 15 32
842 c OST176 Osteogenesis Imperfecta, Type Xx 32
843 c ACT072 Acute Laryngitis 32
844 TYP026 Typical Congenital Nemaline Myopathy 32
845 ASP038 Aspirin-Induced Respiratory Disease 32
846 WLL029 Williams-Campbell Syndrome 32
847 c BRG008 Brugada Syndrome 6 31
848 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31
849 c SHR104 Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly 31
850 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
851 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
852 MGL033 Megalocornea-Mental Retardation Syndrome 31
853 SCR039 Scorpion Envenomation 31
854 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
855 TRC038 Tracheobronchomegaly 31
856 CPL004 Caplan's Syndrome 31
857 c DRY002 Dry Beriberi 31
858 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
859 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
860 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
861 c RHM021 Rheumatoid Arthritis, Systemic Juvenile 31
862 MXL006 Maxillary Sinus Adenocarcinoma 30
863 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
864 c BRG012 Brugada Syndrome 9 30
865 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
866 RGH010 Right Ventricular Hypoplasia, Isolated 30
867 CTN013 Cutaneous Anthrax 30
868 BRN148 Bronchial Benign Neoplasm 30
869 VNT001 Ventilation Pneumonitis 30
870 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
871 P FHT001 Fh Tumor Predisposition Syndrome 30
872 LFF002 Loeffler Syndrome 29
873 c HRD186 Hereditary Spastic Paraplegia 51 29
874 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
875 c SPN307 Spondylocostal Dysostosis 2, Autosomal Recessive 29
876 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
877 c BRG006 Brugada Syndrome 2 29
878 c CNG520 Congenital Heart Defects, Multiple Types, 6 29
879 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
880 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
881 c HRD188 Hereditary Spastic Paraplegia 72 29
882 BYS001 Byssinosis 29
883 c SPS091 Spastic Paraplegia 4 29
884 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
885 PLM198 Pulmonary Interstitial Emphysema 28
886 c SPS013 Spastic Paraplegia 8 28
887 YNG002 Young Syndrome 28
888 c CHR546 Chronic Mountain Sickness 28
889 DFF002 Diffuse Pulmonary Fibrosis 28
890 c SHR115 Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly 28
891 P VRT017 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 28
892 c SHR129 Short-Rib Thoracic Dysplasia 21 Without Polydactyly 27
893 c CLR054 Ciliary Dyskinesia, Primary, 12 27
894 PLS031 Plastic Bronchitis 27
895 c VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 27
896 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
897 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 27
898 FCT013 Factor V Leiden Thrombophilia 27
899 P PLY187 Polyarticular Juvenile Idiopathic Arthritis 27
900 c BRG010 Brugada Syndrome 8 27
901 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 27
902 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 27
903 c SHR101 Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly 27
904 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
905 LNG009 Lung Meningioma 26
906 c CNG511 Congenital Heart Defects, Multiple Types, 2 26
907 MNB001 Main Bronchus Cancer 26
908 PLM015 Pulmonary Systemic Sclerosis 26
909 THR032 Thoracolaryngopelvic Dysplasia 26
910 IMM229 Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia 26
911 c MCP055 Mucopolysaccharidosis, Type X 26
912 c BRG009 Brugada Syndrome 7 26
913 NSL006 Nasal Cavity Squamous Cell Carcinoma 26
914 c BRN143 Bronchiectasis 1 26
915 c VNT024 Ventricular Septal Defect 3 26
916 GLY094 Glycine Encephalopathy with Normal Serum Glycine 26
917 c VRL001 Viral Laryngitis 26
918 TXC007 Toxic Pneumonitis 26
919 c CNG521 Congenital Heart Defects, Multiple Types, 5 25
920 SCH010 Schneiderian Carcinoma 25
921 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
922 ENV003 Environmental Induced Asthma 25
923 c MYS084 Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive 25
924 ACT016 Actinobacillosis 25
925 LRY028 Laryngocele 25
926 ACR020 Acropectorovertebral Dysplasia 25
927 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 24
928 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 24
929 c HRD210 Hereditary Spastic Paraplegia 23 24
930 P SNS011 Sinus Cancer 24
931 SLN006 Silent Sinus Syndrome 24
932 CHL147 Chlamydia Pneumonia 24
933 PLR002 Pleural Lipoma 24
934 c JBR050 Joubert Syndrome 38 24
935 c SPS042 Spastic Paraplegia 9 24
936 c GRN065 Granulomatous Disease, Chronic, Autosomal Recessive, 5 24
937 c SPN417 Spondylocostal Dysostosis 6, Autosomal Recessive 23
938 c SPS230 Spastic Paraplegia Type 49 23
939 CHL079 Children's Interstitial Lung Disease 23
940 CRK001 Cork-Handlers' Disease 23
941 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 23
942 CCN012 Cocaine Antenatal Exposure 23
943 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
944 c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 23
945 LRY006 Larynx Squamous Papilloma 23
946 BRN040 Bronchus Adenoma 23
947 FRN058 Frontal Sinus Benign Neoplasm 23
948 c ANG072 Angioedema, Hereditary, 4 23
949 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 23
950 HYP015 Hyperlucent Lung 23
951 ETH001 Ethmoid Sinus Adenocarcinoma 22
952 c MSC202 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 22
953 STR103 Streptococcus Pneumonia 22
954 c ADL080 Adult Acute Respiratory Distress Syndrome 22
955 CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 22
956 TRC014 Trachea Adenoid Cystic Carcinoma 22
957 c HYP517 Hypoplastic Left Heart Syndrome 2 22
958 RSP018 Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome 22
959 c HTR026 Heterotaxy, Visceral, 9, Autosomal, with Male Infertility 22
960 PLM201 Pulmonary Talcosis 22
961 P RGD004 Rigid Spine Muscular Dystrophy 22
962 c PLY065 Polyarticular Onset Juvenile Idiopathic Arthritis 22
963 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
964 MTC220 Mitochondrial Complex Iv Deficiency, Nuclear Type 12 21
965 HYD053 Hydrocephalus with Associated Malformations 21
966 DST013 Distal Myopathy with Vocal Cord Weakness 21
967 PLM189 Pulmonary Arterial Hypertension Associated with Connective Tissue Disease 21
968 CMB098 Combined Oxidative Phosphorylation Deficiency 42 21
969 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
970 SBG006 Subglottis Benign Neoplasm 20
971 MXL002 Maxillary Sinus Adenoid Cystic Carcinoma 20
972 c LCL003 Localized Pulmonary Fibrosis 20
973 c ANG073 Angioedema, Hereditary, 5 20
974 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 20
975 c ANG074 Angioedema, Hereditary, 6 20
976 DYS135 Dysphagia Lusoria 20
977 ETH008 Ethmoid Sinus Cancer 20
978 c HTR028 Heterotaxy, Visceral, 11, Autosomal, with Male Infertility 20
979 c NSP015 Nasopharyngeal Carcinoma 3 20
980 NRN023 Neuroendocrine Cell Hyperplasia of Infancy 19
981 SLF020 Sulfide:quinone Oxidoreductase Deficiency 19
982 SPR022 Supraglottis Neoplasm 19
983 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
984 PST015 Postinflammatory Pulmonary Fibrosis 19
985 HNR001 Heiner Syndrome 19
986 c ANG076 Angioedema, Hereditary, 8 19
987 MNV001 Manouvrier Syndrome 19
988 c SCN051 Secondary Pulmonary Alveolar Proteinosis 18
989 THR033 Thoracomelic Dysplasia 18
990 c CNG385 Congenital Heart Defects, Multiple Types, 3 18
991 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
992 ALM003 Aluminosis 18
993 PLM108 Pulmonary Interstitial Glycogenosis 18
994 NNM008 Nonmucinous Bronchioloalveolar Adenocarcinoma 18
995 P NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 18
996 c NSP009 Nasopharyngeal Carcinoma 2 18
997 LRS009 Larsen-Like Syndrome, Lethal Type 17
998 c ANG075 Angioedema, Hereditary, 7 17
999 P CNG600 Congenital Arteriovenous Fistula 17
1000 PLM188 Pulmonary Arterial Hypertension Associated with Another Disease 17
1001 KMM002 Kommerell Diverticulum 17
1002 CRV066 Cervical Aortic Arch 17
1003 ISL118 Isolated Tracheoesophageal Fistula 17
1004 c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 16
1005 c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 16
1006 NMN008 Niemann-Pick Disease Type C, Severe Perinatal Form 16
1007 THR030 Thoraco Abdominal Enteric Duplication 16
1008 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1009 KLN003 Kaolin Pneumoconiosis 15
1010 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1011 c FRN009 Frontal Sinus Cancer 15
1012 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
1013 c INF136 Influenza, Severe 14
1014 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
1015 c ACQ036 Acquired Angioedema Type 2 14
1016 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1017 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1018 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1019 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1020 ISL036 Isolated Pulmonary Capillaritis 14
1021 c CNG397 Congenital Pulmonary Airway Malformation Type 3 13
1022 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1023 GRP001 Graphite Pneumoconiosis 13
1024 c THY119 Thyrotoxic Periodic Paralysis 3 12
1025 c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 12
1026 P IDP090 Idiopathic Eosinophilic Pneumonia 12
1027 c CNG257 Congenital Pulmonary Sequestration 12
1028 DRG027 Drug- or Toxin-Induced Pulmonary Arterial Hypertension 11
1029 c CNG405 Congenital Pulmonary Airway Malformation Type 4 11
1030 MSH001 Mushroom Workers' Lung 10
1031 PLM187 Pulmonary Arterial Hypertension Associated with Schistosomiasis 10
1032 XLN246 X-Linked Retinitis Pigmentosa and Sinorespiratory Infections 10
1033 PLM185 Pulmonary Arterial Hypertension Associated with Hiv Infection 10
1034 SGL001 Siegler Brewer Carey Syndrome 10
1035 PRN003 Paranasal Sinus Sarcoma 9
1036 TRN052 Transient Hyperammonemia of the Newborn 9
1037 LRY008 Larynx Liposarcoma 9
1038 c ACQ035 Acquired Angioedema Type 1 8
1039 ETH002 Ethmoid Sinus Adenoid Cystic Carcinoma 8
1040 c CNG476 Congenital Systemic Arteriovenous Fistula 8
1041 MXD043 Mixed Mucinous and Nonmucinous Bronchioloalveolar Adenocarcinoma 8
1042 SBG003 Subglottis Verrucous Carcinoma 7
1043 P INT354 Interstitial Lung Disease Specific to Childhood 7
1044 P INT353 Interstitial Lung Disease in Childhood and Adulthood 7
1045 GLT003 Glottis Verrucous Carcinoma 7
1046 SPR015 Supraglottis Verrucous Carcinoma 7
1047 c SPS040 Spastic Paraplegia 5b 7
1048 MXL003 Maxillary Sinus Schneiderian Papilloma 7
1049 SMD014 Samd9l-Associated Autoinflammatory Syndrome 7
1050 LRY001 Larynx Leiomyoma 6
1051 BRN010 Bronchial Mucus Gland Adenoma 6
1052 UNS002 Unspecified Juvenile Idiopathic Arthritis 6
1053 c SCN079 Secondary Interstitial Lung Disease in Childhood and Adulthood 6
1054 SPH004 Sphenoid Sinus Schneiderian Papilloma 6
1055 ETH015 Ethmoidal Sinus Benign Neoplasm 6
1056 OCC014 Occupational Allergic Alveolitis 6
1057 INT186 Intralobar Congenital Pulmonary Sequestration 6
1058 P INT352 Interstitial Lung Disease Specific to Adulthood 5
1059 DRG018 Drug or Radiation Exposure-Related Interstitial Lung Disease 5
1060 NSL001 Nasal Cavity Inverting Papilloma 5
1061 TLN015 Toluene Meta-Diisocyanate Allergic Asthma 5
1062 HXM001 Hexamethylene Diisocyanate Allergic Asthma 5
1063 c PRM309 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Structure Disorder 4
1064 PLM192 Pulmonary Hypertension with Unclear Multifactorial Mechanism 4
1065 SCN078 Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease 4
1066 c PRM307 Primary Interstitial Lung Disease Specific to Adulthood 4
1067 SCN072 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease 4
1068 SCN073 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease 4
1069 NCK003 Nickel Allergic Asthma 4
1070 TLN016 Toluene 2,4-Diisocyanate Allergic Asthma 3
1071 PLM107 Pulmonary Fungal Infections in Patients Deemed at Risk 3
1072 RRB010 Rare Bronchopulmonary Tumor 3
1073 RSP025 Respiratory or Thoracic Malformation 3
1074 SYN108 Syndrome with Pulmonary Hypertension As a Major Feature 3
1075 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 55
1076 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 40
1077 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 34
1078 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 34
1079 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 29
1080 c SPN465 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 22
1081 c PLM195 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5 20
1082 RRL004 Rare Allergic Respiratory Disease 4
1083 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 67
1084 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
1085 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
1086 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 44
1087 NRD129 Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties 32
1088 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 23
1089 IMM078 Immunodeficiency 21 59
1090 PRR007 Perry Syndrome 52
1091 IMM249 Immunodeficiency 83 Viral Infections 28
1092 NRD094 Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 25
1093 P SPN046 Spinal Muscular Atrophy 62
1094 P HYP035 Hypophosphatasia 62
1095 c HYP293 Hypophosphatasia, Adult 60
1096 P ULL002 Ullrich Congenital Muscular Dystrophy 1 60
1097 P CTS001 Cutis Laxa 57
1098 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
1099 c SPN393 Spinal Muscular Atrophy, Type I 55
1100 CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 55
1101 c HYP292 Hypophosphatasia, Infantile 53
1102 c SPN394 Spinal Muscular Atrophy, Type Iii 52
1103 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
1104 INT258 Interstitial Nephritis, Karyomegalic 49
1105 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
1106 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 47
1107 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
1108 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
1109 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
1110 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
1111 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
1112 c JBR042 Joubert Syndrome 23 44
1113 c SPN398 Spinal Muscular Atrophy, Type Iv 43
1114 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
1115 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
1116 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
1117 MYP038 Myopathy, Congenital, Compton-North 35
1118 IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 35
1119 c ATP003 Atp6v0a2-Related Cutis Laxa 35
1120 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
1121 SYN175 Syndromic X-Linked Intellectual Disability Lubs Type 34
1122 RTN145 Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 34
1123 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
1124 ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 29
1125 c ULL003 Ullrich Congenital Muscular Dystrophy 2 29
1126 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
1127 c DVL095 Developmental and Epileptic Encephalopathy 71 24
1128 c SPN444 Spinal Muscular Atrophy Type 0 23
1129 c ACQ027 Acquired Cutis Laxa 20
1130 THY044 Thymic-Renal-Anal-Lung Dysplasia 19
1131 c LTB003 Ltbp4-Related Cutis Laxa 19
1132 c FBL003 Fbln5-Related Cutis Laxa 18
1133 c ELN002 Eln-Related Cutis Laxa 14
1134 c EFM001 Efemp2-Related Cutis Laxa 13
1135 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
1136 PLM055 Pulmonary Artery Familial Dilatation 2
1137 CYS001 Cystic Fibrosis 78
1138 P AST005 Asthma 76
1139 PLM129 Pulmonary Disease, Chronic Obstructive 74
1140 P JBR020 Joubert Syndrome 1 72
1141 P LNG064 Lung Cancer Susceptibility 3 71
1142 LYM007 Lymphangioleiomyomatosis 68
1143 BRN024 Bronchitis 67
1144 P PNM007 Pneumonia 67
1145 c FML001 Familial Atrial Fibrillation 67
1146 c PRG042 Progressive Familial Heart Block, Type Ia 67
1147 P SJG008 Sjogren Syndrome 65
1148 P CNG001 Congenital Myasthenic Syndrome 65
1149 c ATS013 Autosomal Recessive Congenital Ichthyosis 64
1150 LNG099 Lung Disease 64
1151 c NMN016 Niemann-Pick Disease, Type B 62
1152 P MYC008 Myocarditis 62
1153 c DVL042 Developmental and Epileptic Encephalopathy 14 62
1154 c DVL030 Developmental and Epileptic Encephalopathy 36 61
1155 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
1156 P CRN323 Cranioectodermal Dysplasia 60
1157 P SLP005 Sleep Disorder 59
1158 c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 59
1159 NWB001 Newborn Respiratory Distress Syndrome 58
1160 P VNT002 Ventricular Septal Defect 58
1161 BRN056 Bronchopulmonary Dysplasia 57
1162 c DVL033 Developmental and Epileptic Encephalopathy 1 57
1163 c PRM012 Primary Polycythemia 57
1164 ALL006 Allergic Asthma 57
1165 P LMB006 Limb-Girdle Muscular Dystrophy 56
1166 c MYS051 Myasthenic Syndrome, Congenital, 5 56
1167 TNS005 Tonsillitis 55
1168 SYS034 Systemic Onset Juvenile Idiopathic Arthritis 55
1169 BRN015 Bronchiolo-Alveolar Adenocarcinoma 55
1170 LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 55
1171 P PLY018 Polycythemia 55
1172 c JBR041 Joubert Syndrome 3 55
1173 c PRG043 Progressive Familial Heart Block, Type Ib 54
1174 c DVL038 Developmental and Epileptic Encephalopathy 7 54
1175 P ICH004 Ichthyosis 54
1176 RSP019 Respiratory Distress Syndrome in Premature Infants 54
1177 c BCT013 Bacterial Pneumonia 53
1178 c PRG126 Progressive Familial Heart Block 53
1179 LNG020 Lung Oat Cell Carcinoma 53
1180 IDP011 Idiopathic Interstitial Pneumonia 53
1181 P LNG035 Lung Large Cell Carcinoma 53
1182 c DVL029 Developmental and Epileptic Encephalopathy 2 53
1183 c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52
1184 STR008 Strongyloidiasis 52
1185 c DVL027 Developmental and Epileptic Encephalopathy 9 52
1186 c LYM145 Lymphatic Malformation 5 52
1187 TRC097 Tracheomalacia 52
1188 MYC087 Mycoplasma Pneumoniae Pneumonia 52
1189 PLM017 Pulmonary Alveolar Microlithiasis 52
1190 ASP007 Aspiration Pneumonia 52
1191 P DVL113 Developmental and Epileptic Encephalopathy 51
1192 ANT018 Anthracosis 51
1193 LNG031 Lung Benign Neoplasm 51
1194 P BRN120 Bronchus Cancer 50
1195 c DVL041 Developmental and Epileptic Encephalopathy 13 50
1196 LNG017 Lung Giant Cell Carcinoma 50
1197 c MLG079 Malignant Pleural Mesothelioma 50
1198 c HRM009 Hermansky-Pudlak Syndrome 6 50
1199 LNG115 Lung Sarcomatoid Carcinoma 50
1200 c JBR004 Joubert Syndrome 2 50
1201 ANT039 Antisynthetase Syndrome 49
1202 c CRN108 Cranioectodermal Dysplasia 1 49
1203 c SPN395 Spinal Muscular Atrophy, Type Ii 49
1204 c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 49
1205 ACT017 Acute Chest Syndrome 49
1206 c JBR012 Joubert Syndrome 5 48
1207 IMM081 Immunodeficiency 19 48
1208 c LYM144 Lymphatic Malformation 1 48
1209 c JBR013 Joubert Syndrome 8 48
1210 ASP008 Aspiration Pneumonitis 48
1211 c ICH049 Ichthyosis, Congenital, Autosomal Recessive 2 48
1212 OBS037 Obesity-Hypoventilation Syndrome 47
1213 c JBR025 Joubert Syndrome 17 47
1214 c DVL035 Developmental and Epileptic Encephalopathy 4 47
1215 CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 47
1216 c JBR024 Joubert Syndrome 14 47
1217 P C3G002 C3 Glomerulopathy 46
1218 c JBR035 Joubert Syndrome 24 46
1219 LRY015 Laryngeal Benign Neoplasm 46
1220 c JBR043 Joubert Syndrome 32 46
1221 c CHR576 Chronic Beryllium Disease 46
1222 c JBR031 Joubert Syndrome 21 46
1223 c GRN061 Granulomatous Disease, Chronic, Autosomal Recessive, 4 46
1224 FSC002 Fascioliasis 46
1225 HYL005 Hyaline Body Myopathy 46
1226 c ACT076 Acute Myocarditis 46
1227 c DVL118 Developmental and Epileptic Encephalopathy 94 46
1228 c DVL048 Developmental and Epileptic Encephalopathy 21 45
1229 P PRN020 Paranasal Sinus Cancer 45
1230 c JBR022 Joubert Syndrome 20 45
1231 c DVL039 Developmental and Epileptic Encephalopathy 11 45
1232 c JBR011 Joubert Syndrome 7 45
1233 P SDR002 Siderosis 45
1234 c ICH038 Ichthyosis, Congenital, Autosomal Recessive 3 45
1235 HRT015 Heritable Pulmonary Arterial Hypertension 45
1236 c CRN111 Cranioectodermal Dysplasia 4 45
1237 PLR022 Pleural Disease 45
1238 TRC020 Tracheitis 45
1239 c ICH040 Ichthyosis, Congenital, Autosomal Recessive 4a 44
1240 c DVL056 Developmental and Epileptic Encephalopathy 30 44
1241 c DVL068 Developmental and Epileptic Encephalopathy 43 44
1242 c DVL099 Developmental and Epileptic Encephalopathy 75 43
1243 c ACQ010 Acquired Polycythemia 43
1244 c JBR018 Joubert Syndrome 4 43
1245 c JBR016 Joubert Syndrome 10 43
1246 c MYS052 Myasthenic Syndrome, Congenital, 10 43
1247 PRT011 Protein C Deficiency 43
1248 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
1249 c DVL067 Developmental and Epileptic Encephalopathy 42 43
1250 P CLC057 Cole-Carpenter Syndrome 43
1251 c DVL044 Developmental and Epileptic Encephalopathy 16 43
1252 P HRT035 Heart Block, Congenital 42
1253 c DVL077 Developmental and Epileptic Encephalopathy 53 42
1254 c NML002 Nemaline Myopathy 1 42
1255 BRY001 Berylliosis 42
1256 c DVL076 Developmental and Epileptic Encephalopathy 52 42
1257 c DVL037 Developmental and Epileptic Encephalopathy 5 42
1258 c LYM161 Lymphatic Malformation 12 42
1259 c ATM022 Autoimmune Myocarditis 42
1260 c DVL049 Developmental and Epileptic Encephalopathy 23 42
1261 c DVL062 Developmental and Epileptic Encephalopathy 35 42
1262 c MYS075 Myasthenic Syndrome, Congenital, 13 41
1263 c MYS074 Myasthenic Syndrome, Congenital, 12 41
1264 NNS002 Nonspecific Interstitial Pneumonia 41
1265 c MYS076 Myasthenic Syndrome, Congenital, 8 41
1266 CNG134 Congenitally Corrected Transposition of the Great Arteries 41
1267 c DVL072 Developmental and Epileptic Encephalopathy 47 41
1268 P NSL008 Nasal Cavity Cancer 41
1269 PNM002 Pneumonic Tularemia 40
1270 c MYS078 Myasthenic Syndrome, Congenital, 14 40
1271 c JBR030 Joubert Syndrome 22 40
1272 INT271 Interstitial Lung and Liver Disease 40
1273 c PST041 Posterior Urethral Valves 40
1274 c DVL100 Developmental and Epileptic Encephalopathy 76 40
1275 c DVL045 Developmental and Epileptic Encephalopathy 17 40
1276 c DVL064 Developmental and Epileptic Encephalopathy 38 40
1277 c DVL034 Developmental and Epileptic Encephalopathy 3 39
1278 c DVL061 Developmental and Epileptic Encephalopathy 34 39
1279 c DVL098 Developmental and Epileptic Encephalopathy 74 39
1280 c JBR028 Joubert Syndrome 13 39
1281 c DVL052 Developmental and Epileptic Encephalopathy 26 39
1282 c DVL028 Developmental and Epileptic Encephalopathy 8 39
1283 c JBR037 Joubert Syndrome 26 39
1284 c JBR027 Joubert Syndrome 16 39
1285 LFF001 Loeffler Endocarditis 39
1286 c DVL040 Developmental and Epileptic Encephalopathy 12 39
1287 c DVL103 Developmental and Epileptic Encephalopathy 80 39
1288 c CLR066 Ciliary Dyskinesia, Primary, 2 38
1289 c DVL073 Developmental and Epileptic Encephalopathy 48 38
1290 c CRN109 Cranioectodermal Dysplasia 2 38
1291 CMB091 Combined Oxidative Phosphorylation Deficiency 39 38
1292 NMD001 Nmda Receptor Encephalitis 38
1293 c MYS067 Myasthenic Syndrome, Congenital, 22 38
1294 LRG014 Large Cell Neuroendocrine Carcinoma 38
1295 c FTL070 Fetal Akinesia Deformation Sequence 2 38
1296 c DVL109 Developmental and Epileptic Encephalopathy 87 38
1297 c DVL060 Developmental and Epileptic Encephalopathy 50 38
1298 c DVL053 Developmental and Epileptic Encephalopathy 27 38
1299 c CLR091 Ciliary Dyskinesia, Primary, 14 38
1300 c DVL043 Developmental and Epileptic Encephalopathy 15 38
1301 SRF006 Surfactant Dysfunction 37
1302 c JBR036 Joubert Syndrome 25 37
1303 GST052 Gestational Choriocarcinoma 37
1304 c DVL055 Developmental and Epileptic Encephalopathy 29 37
1305 c JBR021 Joubert Syndrome 18 37
1306 BRD003 Bird Fancier's Lung 37
1307 c DVL050 Developmental and Epileptic Encephalopathy 24 37
1308 c DVL078 Developmental and Epileptic Encephalopathy 54 36
1309 c DVL079 Developmental and Epileptic Encephalopathy 55 36
1310 c JBR040 Joubert Syndrome 30 36
1311 c DVL069 Developmental and Epileptic Encephalopathy 44 36
1312 c MYS070 Myasthenic Syndrome, Congenital, 19 36
1313 c DVL097 Developmental and Epileptic Encephalopathy 73 36
1314 CYS021 Cystic Adenomatoid Malformation of Lung 36
1315 c ICH050 Ichthyosis, Congenital, Autosomal Recessive 5 36
1316 SPR006 Sparganosis 35
1317 LNG091 Lung Mucoepidermoid Carcinoma 35
1318 c JBR045 Joubert Syndrome 33 35
1319 P TRC024 Trachea Carcinoma 35
1320 LNG011 Lung Adenoid Cystic Carcinoma 35
1321 PNB004 Panbronchiolitis, Diffuse 34
1322 c LYM150 Lymphatic Malformation 7 34
1323 PLM180 Pulmonary Artery Disease 34
1324 c DVL054 Developmental and Epileptic Encephalopathy 28 34
1325 c CLR101 Ciliary Dyskinesia, Primary, 25 34
1326 c MYS064 Myasthenic Syndrome, Congenital, 16 34
1327 c CLR095 Ciliary Dyskinesia, Primary, 19 34
1328 GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 34
1329 SPR021 Supraglottis Cancer 34
1330 c DVL059 Developmental and Epileptic Encephalopathy 33 34
1331 c JBR014 Joubert Syndrome 9 34
1332 c DVL090 Developmental and Epileptic Encephalopathy 66 34
1333 c DVL057 Developmental and Epileptic Encephalopathy 31 34
1334 c ICH042 Ichthyosis, Congenital, Autosomal Recessive 6 34
1335 c LYM149 Lymphatic Malformation 6 34
1336 BSL003 Basaloid Lung Carcinoma 34
1337 c ICH048 Ichthyosis, Congenital, Autosomal Recessive 9 33
1338 BRN055 Bronchogenic Cyst 33
1339 c DVL089 Developmental and Epileptic Encephalopathy 65 33
1340 c VNT028 Ventricular Septal Defect 1 33
1341 c MYS077 Myasthenic Syndrome, Congenital, 15 33
1342 c ICH045 Ichthyosis, Congenital, Autosomal Recessive 7 33
1343 c ICH039 Ichthyosis, Congenital, Autosomal Recessive 10 33
1344 TRC025 Tracheal Cancer 33
1345 c DVL084 Developmental and Epileptic Encephalopathy 60 33
1346 NRD108 Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities 32
1347 c DVL046 Developmental and Epileptic Encephalopathy 18 32
1348 LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 31
1349 c FTL071 Fetal Akinesia Deformation Sequence 3 31
1350 c DVL129 Developmental and Epileptic Encephalopathy 25 31
1351 IMM196 Immunodeficiency 15a 31
1352 FBR097 Fibrosis, Neurodegeneration, and Cerebral Angiomatosis 31
1353 P RRL003 Rare Lymphatic Malformation 31
1354 c DVL119 Developmental and Epileptic Encephalopathy 6b 31
1355 EMP011 Emphysema, Congenital Lobar 31
1356 IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 31
1357 P BNG022 Benign Pleural Mesothelioma 31
1358 c DVL114 Developmental and Epileptic Encephalopathy 91 31
1359 PRN032 Paraneoplastic Cerebellar Degeneration 30
1360 PLM028 Pulmonary Coin Lesion 30
1361 PLM007 Pulmonary Aspergilloma 30
1362 c JBR039 Joubert Syndrome 28 30
1363 c ACQ076 Acquired Ichthyosis 30
1364 c MYS065 Myasthenic Syndrome, Congenital, 18 30
1365 TRC001 Trachea Leiomyoma 30
1366 c DVL063 Developmental and Epileptic Encephalopathy 37 30
1367 c DVL107 Developmental and Epileptic Encephalopathy 84 30
1368 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 30
1369 LGN005 Ligneous Conjunctivitis 30
1370 c TRC002 Trachea Carcinoma in Situ 29
1371 SMR006 Smarca4-Deficient Sarcoma of Thorax 29
1372 RGH006 Right Aortic Arch 29
1373 BRT013 Baritosis 29
1374 c DVL080 Developmental and Epileptic Encephalopathy 56 28
1375 c DVL058 Developmental and Epileptic Encephalopathy 32 28
1376 NSL003 Nasal Cavity Adenocarcinoma 28
1377 MCR310 Microgastria-Limb Reduction Defects Association 28
1378 MXL008 Maxillary Sinus Cancer 28
1379 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 28
1380 c DVL071 Developmental and Epileptic Encephalopathy 46 28
1381 c DVL112 Developmental and Epileptic Encephalopathy 89 28
1382 c CRN110 Cranioectodermal Dysplasia 3 27
1383 c MYS056 Myasthenic Syndrome, Congenital, 17 27
1384 c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 27
1385 c CLC056 Cole-Carpenter Syndrome 1 27
1386 PRD048 Periodic Fever, Immunodeficiency, and Thrombocytopenia Syndrome 27
1387 c C3G003 C3 Glomerulopathy 3 27
1388 c DVL066 Developmental and Epileptic Encephalopathy 41 27
1389 c PRG101 Progressive Familial Heart Block, Type Ii 27
1390 c DVL094 Developmental and Epileptic Encephalopathy 70 27
1391 c JBR044 Joubert Syndrome 31 27
1392 c DVL093 Developmental and Epileptic Encephalopathy 69 27
1393 c DVL120 Developmental and Epileptic Encephalopathy 95 27
1394 BGS001 Bagassosis 27
1395 c DVL086 Developmental and Epileptic Encephalopathy 62 27
1396 c DVL088 Developmental and Epileptic Encephalopathy 64 27
1397 STR029 Sternal Cleft 27
1398 c DVL074 Developmental and Epileptic Encephalopathy 49 27
1399 c DVL116 Developmental and Epileptic Encephalopathy 93 27
1400 LNG019 Lung Combined Type Small Cell Carcinoma 27
1401 c DVL047 Developmental and Epileptic Encephalopathy 19 27
1402 c DVL101 Developmental and Epileptic Encephalopathy 78 27
1403 c DVL092 Developmental and Epileptic Encephalopathy 68 26
1404 c DVL091 Developmental and Epileptic Encephalopathy 67 26
1405 c DVL083 Developmental and Epileptic Encephalopathy 59 26
1406 c DVL075 Developmental and Epileptic Encephalopathy 51 26
1407 c DVL104 Developmental and Epileptic Encephalopathy 81 26
1408 PLM002 Pulmonary Plasma Cell Granuloma 26
1409 c CLR053 Ciliary Dyskinesia, Primary, 11 26
1410 c DVL115 Developmental and Epileptic Encephalopathy 92 26
1411 SPL054 Splenogonadal Fusion with Limb Defects and Micrognathia 26
1412 FBR028 Fibrosing Mediastinitis 26
1413 c DVL127 Developmental and Epileptic Encephalopathy 98 26
1414 c DVL128 Developmental and Epileptic Encephalopathy 99 26
1415 c JBR049 Joubert Syndrome 37 26
1416 c DVL070 Developmental and Epileptic Encephalopathy 45 26
1417 c DVL081 Developmental and Epileptic Encephalopathy 57 25
1418 c CLC055 Cole-Carpenter Syndrome 2 25
1419 CPL001 Capillariasis 25
1420 APN006 Apnea of Prematurity 25
1421 c DVL106 Developmental and Epileptic Encephalopathy 83 25
1422 c DVL102 Developmental and Epileptic Encephalopathy 79 25
1423 c DVL032 Developmental and Epileptic Encephalopathy 90 25
1424 TMP008 Tempi Syndrome 25
1425 c DVL131 Developmental and Epileptic Encephalopathy 100 25
1426 c DVL105 Developmental and Epileptic Encephalopathy 82 25
1427 c DVL085 Developmental and Epileptic Encephalopathy 61 25
1428 FCL042 Facial Onset Sensory and Motor Neuronopathy 25
1429 c DVL087 Developmental and Epileptic Encephalopathy 63 24
1430 c JBR047 Joubert Syndrome 35 24
1431 c DVL110 Developmental and Epileptic Encephalopathy 88 24
1432 c DVL065 Developmental and Epileptic Encephalopathy 40 24
1433 c JBR038 Joubert Syndrome 27 24
1434 LRY011 Larynx Verrucous Carcinoma 24
1435 RHZ008 Rhizomelic Syndrome 24
1436 c LYM147 Lymphatic Malformation 3 24
1437 c LYM148 Lymphatic Malformation 4 24
1438 SPN447 Spinal Muscular Atrophy, Infantile, James Type 24
1439 c DVL096 Developmental and Epileptic Encephalopathy 72 24
1440 PRQ002 Paraquat Poisoning 24
1441 EPG001 Epiglottis Neoplasm 24
1442 DCR010 Dicer1 Tumor Predisposition 23
1443 c ATS209 Autosomal Dominant Secondary Polycythemia 23
1444 P LNG021 Lung Occult Small Cell Carcinoma 23
1445 LYM001 Lymphohistiocytoid Mesothelioma 23
1446 c JBR048 Joubert Syndrome 36 23
1447 LNG016 Lung Papillary Adenocarcinoma 23
1448 c DVL082 Developmental and Epileptic Encephalopathy 58 23
1449 CNG624 Congenital Heart Defects, Multiple Types, 8, with or Without Heterotaxy 23
1450 SHK001 Shaken Baby Syndrome 23
1451 c ICH072 Ichthyosis, Congenital, Autosomal Recessive 14 23
1452 c JBR051 Joubert Syndrome 39 23
1453 c DVL132 Developmental and Epileptic Encephalopathy 101 22
1454 EPG002 Epiglottis Cancer 22
1455 NSL004 Nasal Cavity Lymphoma 22
1456 c DVL124 Developmental and Epileptic Encephalopathy 97 22
1457 LRY010 Laryngeal Adenoid Cystic Carcinoma 22
1458 c JBR052 Joubert Syndrome 40 22
1459 c RHM033 Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis 22
1460 c DVL121 Developmental and Epileptic Encephalopathy 96 22
1461 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1462 c DVL134 Developmental and Epileptic Encephalopathy 102 22
1463 c DVL135 Developmental and Epileptic Encephalopathy 103 21
1464 c ICH070 Ichthyosis, Congenital, Autosomal Recessive 13 21
1465 c LYM155 Lymphatic Malformation 8 21
1466 c LYM159 Lymphatic Malformation 10 21
1467 c DVL141 Developmental and Epileptic Encephalopathy 106 21
1468 c DVL108 Developmental and Epileptic Encephalopathy 86 21
1469 MTC223 Mitochondrial Complex Iv Deficiency, Nuclear Type 16 20
1470 SCN068 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease 20
1471 c DVL136 Developmental and Epileptic Encephalopathy 104 20
1472 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
1473 LRY003 Laryngeal Mucoepidermoid Carcinoma 20
1474 DPH031 Diaphragmatic Hernia 4, with Cardiovascular Defects 20
1475 IMM265 Immunodeficiency 95 20
1476 CNG108 Congenital Mitral Stenosis 20
1477 MCN021 Mucinous Bronchioloalveolar Adenocarcinoma 20
1478 LNG036 Lung Leiomyoma 20
1479 IMM238 Immunodeficiency 77 19
1480 CLR148 Ciliary Dyskinesia, Primary, 47, and Lissencephaly 19
1481 SLD013 Solid Adenocarcinoma with Mucin Production 19
1482 c DVL142 Developmental and Epileptic Encephalopathy 107 19
1483 c INF055 Infectious Myocarditis 19
1484 c LYM158 Lymphatic Malformation 9 19
1485 c ICH071 Ichthyosis, Congenital, Autosomal Recessive 12 19
1486 CNG243 Congenital Subglottic Stenosis 18
1487 LRY020 Larynx Sarcoma 18
1488 SGN005 Signet Ring Lung Adenocarcinoma 18
1489 MXL018 Maxillary Sinus Benign Neoplasm 18
1490 MTC221 Mitochondrial Complex Iv Deficiency, Nuclear Type 14 17
1491 CLS002 Classic Pulmonary Blastoma 17
1492 c NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 17
1493 c CNG621 Congenital Myasthenic Syndrome 7 17
1494 c LYM160 Lymphatic Malformation 11 17
1495 c INH022 Inherited Ichthyosis 16
1496 c LYM146 Lymphatic Malformation 2 16
1497 FRN005 Frontal Sinus Squamous Cell Carcinoma 16
1498 STP010 Staphylococcal Necrotizing Pneumonia 15
1499 TRC017 Trachea Squamous Cell Carcinoma 15
1500 LNG034 Lung Hilum Cancer 15
1501 FTL048 Fetal Lung Interstitial Tumor 14
1502 CCN010 Cocaine Embryofetopathy 14
1503 c CNG398 Congenital Pulmonary Airway Malformation Type 1 14
1504 c LNG006 Lung Occult Large Cell Carcinoma 14
1505 P LRY049 Laryngotracheoesophageal Cleft Type 4 14
1506 P ANT062 Anterior Urethral Valve 14
1507 P CNG396 Congenital Pulmonary Airway Malformation Type 2 14
1508 CST006 Costocoracoid Ligament, Congenitally Short 14
1509 OSS015 Ossification Anomalies-Psychomotor Developmental Delay Syndrome 14
1510 c MXD037 Mixed Cryoglobulinemia Type Iii 13
1511 c DVL148 Developmental and Epileptic Encephalopathy 108 13
1512 RRP031 Rare Pulmonary Disease 13
1513 TRC019 Trachea Sarcoma 12
1514 PLM190 Pulmonary Hypertension Owing to Lung Disease and/or Hypoxia 11
1515 c RRS011 Rare Sleep Disorder 11
1516 c GRN068 Grin2d-Related Developmental and Epileptic Encephalopathy 11
1517 PDG001 Pdgfra-Associated Chronic Eosinophilic Leukemia 11
1518 LNG005 Lung Occult Adenocarcinoma 11
1519 c DVL151 Developmental and Epileptic Encephalopathy 110 11
1520 c SCN047 Secondary Pulmonary Hemosiderosis 10
1521 c CNG406 Congenital Pulmonary Airway Malformation Type 0 10
1522 CNG564 Congenital Respiratory-Biliary Fistula 10
1523 c DVL150 Developmental and Epileptic Encephalopathy 109 10
1524 c LRY009 Larynx Carcinoma in Situ 10
1525 c CNG266 Congenital Secondary Polycythemia 9
1526 c NSL007 Nasal Cavity Carcinoma in Situ 9
1527 c ACQ028 Acquired Secondary Polycythemia 9
1528 SPH006 Sphenoid Sinus Squamous Cell Carcinoma 9
1529 LNG110 Lung Mucinous Cystadenocarcinoma 8
1530 PLM193 Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Haemangiomatosis 8
1531 c LRY050 Laryngotracheoesophageal Cleft Type 2 8
1532 LRY012 Laryngeal Cartilage Cancer 8
1533 GLT001 Glottis Neoplasm 8
1534 c ATS439 Autosomal Ichthyosis Syndrome 7
1535 PLM191 Pulmonary Arterial Hypertension Associated with Chronic Hemolytic Anemia 7
1536 c SDR001 Siderosis of Eye 7
1537 c RRP017 Rare Pulmonary Hypertension 7
1538 SPH008 Sphenoidal Sinus Cancer 7
1539 c LRY048 Laryngotracheoesophageal Cleft Type 0 7
1540 EPT004 Epithelial Predominant Pulmonary Blastoma 6
1541 INF192 Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia 6
1542 SPH022 Sphenoidal Sinus Benign Neoplasm 6
1543 INT351 Interstitial Lung Disease Specific to Infancy 6
1544 c PLY005 Polycythemia Due to Hypoxia 6
1545 EXT047 Extralobar Congenital Pulmonary Sequestration 6
1546 c PRM308 Primary Interstitial Lung Disease in Childhood and Adulthood 6
1547 ISC018 Isocyanates Allergic Asthma 5
1548 RSP022 Respiratory Malformation 5
1549 HSL001 House Allergic Alveolitis 5
1550 EXP006 Exposure-Related Interstitial Lung Disease 5
1551 c BRN001 Bronchus Carcinoma in Situ 4
1552 LNG010 Lung Clear Cell-Sugar-Tumor 4
1553 SCN075 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis 4
1554 c PRM311 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Structure Disorder 4
1555 c PRM310 Primary Interstitial Lung Disease in Childhood and Adulthood Due to Alveolar Vascular Disorder 4
1556 SCN077 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease 4
1557 c PRM312 Primary Interstitial Lung Disease Specific to Childhood Due to Alveolar Vascular Disorder 4
1558 CBL010 Cobalt Allergic Asthma 4
1559 TRM027 Trimellitic Anhydride Allergic Asthma 4
1560 MTH085 Methyl Isocyanate Allergic Asthma 4
1561 DPH026 Diphenylmethane-4,4'-Diisocyanate Allergic Asthma 4
1562 SCN076 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease 4
1563 HXH001 Hexahydrophthalic Anhydride Allergic Asthma 4
1564 MRP005 Meropenem Allergy 4
1565 MLC007 Maleic Anhydride Allergic Asthma 4
1566 SCN074 Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease 4
1567 CRC002 Carcinoma Arising in Nasal Papillomatosis 4
1568 PHT014 Phthalic Anhydride Allergic Asthma 3
1569 TTR030 Tetrachlorophthalic Anhydride Allergic Asthma 3
1570 c PRN030 Paranasal Sinus Cancer, Adult 3
1571 c SJG004 Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease 3
1572 MCR141 Mucormycosis 65
1573 PLG002 Plague 62
1574 ADS001 Adiaspiromycosis 22
1575 c GCH015 Gaucher Disease, Type I 70
1576 c SML038 Small Cell Cancer of the Lung 68
1577 c RHB024 Rhabdomyosarcoma 2 65
1578 P RHB003 Rhabdomyosarcoma 65
1579 P INT066 Interstitial Lung Disease 62
1580 HNC001 Henoch-Schoenlein Purpura 61
1581 P SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 61
1582 P HYP097 Hyperekplexia 61
1583 CHL028 Childhood Type Dermatomyositis 61
1584 AVN001 Avian Influenza 60
1585 c CLR131 Ciliary Dyskinesia, Primary, 1 59
1586 GRN051 Granulomatous Disease, Chronic, X-Linked 59
1587 HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 59
1588 PNM010 Pneumothorax, Primary Spontaneous 59
1589 c MST023 Mesothelioma, Malignant 58
1590 IRN002 Iron Metabolism Disease 58
1591 P END033 Endocarditis 57
1592 PLM033 Pulmonary Embolism 57
1593 PHR003 Pharyngitis 57
1594 c PSD122 Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive 57
1595 LNG039 Lung Squamous Cell Carcinoma 57
1596 c MYP072 Myopathy, Myofibrillar, 1 57
1597 MCN007 Meconium Aspiration Syndrome 56
1598 P FML068 Familial Hypocalciuric Hypercalcemia 55
1599 SLC006 Silicosis 55
1600 PLM032 Pulmonary Blastoma 55
1601 c VRL005 Viral Pneumonia 55
1602 ACT029 Acute Interstitial Pneumonia 55
1603 TRC062 Tricuspid Atresia 54
1604 ASP004 Asphyxia Neonatorum 54
1605 c MYP078 Myopathy, Myofibrillar, 3 54
1606 ALV005 Alveolar Soft Part Sarcoma 54
1607 MTT002 Metatropic Dysplasia 52
1608 MLT134 Multiple Pterygium Syndrome, Lethal Type 51
1609 VSD002 Vas Deferens, Congenital Bilateral Aplasia of 50
1610 P HYD033 Hydrolethalus Syndrome 1 50
1611 c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 50
1612 c SHR063 Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly 50
1613 c MYP079 Myopathy, Myofibrillar, 5 49
1614 P LRY029 Laryngomalacia 49
1615 P MYF003 Myofibrillar Myopathy 48
1616 ADN089 Adenosquamous Lung Carcinoma 48
1617 CHN065 Choanal Atresia, Posterior 48
1618 c PSD092 Pseudohypoaldosteronism, Type Iie 47
1619 P PSD003 Pseudohypoaldosteronism 46
1620 c MYP081 Myopathy, Myofibrillar, 6 46
1621 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 46
1622 CRP002 Croup 46
1623 c MYP082 Myopathy, Myofibrillar, 2 45
1624 c MYP080 Myopathy, Myofibrillar, 4 45
1625 c HYP608 Hypocalciuric Hypercalcemia, Familial, Type Iii 45
1626 INT304 Interstitial Pneumonitis, Desquamative, Familial 45
1627 PRT014 Protein S Deficiency 44
1628 c JBR026 Joubert Syndrome 15 44
1629 DFF035 Diffuse Cutaneous Systemic Sclerosis 43
1630 PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 43
1631 SCR015 Scarlet Fever 43
1632 YLL001 Yellow Nail Syndrome 42
1633 c CLR134 Ciliary Dyskinesia, Primary, 3 42
1634 CMB017 Combined Oxidative Phosphorylation Deficiency 6 41
1635 SPN348 Spondylometaphyseal Dysplasia, Axial 41
1636 P PLM182 Pulmonary Hypoplasia, Primary 41
1637 FRM003 Farmer's Lung 41
1638 c CLR114 Ciliary Dyskinesia, Primary, 30 40
1639 ARC008 Auriculo-Condylar Syndrome 40
1640 SNN002 Sinonasal Undifferentiated Carcinoma 39
1641 MXL016 Maxillonasal Dysplasia, Binder Type 38
1642 c HRM011 Hermansky-Pudlak Syndrome 8 38
1643 P SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 37
1644 c SRF003 Surfactant Metabolism Dysfunction, Pulmonary, 2 37
1645 c NML024 Nemaline Myopathy 11, Autosomal Recessive 36
1646 ANC002 Anca-Associated Vasculitis 36
1647 c PSD080 Pseudohypoaldosteronism Type 1 36
1648 c MYP119 Myopathy, Myofibrillar, 7 35
1649 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 35
1650 c CLR042 Ciliary Dyskinesia, Primary, 6 35
1651 CMB044 Combined Oxidative Phosphorylation Deficiency 14 35
1652 c CLR056 Ciliary Dyskinesia, Primary, 10 34
1653 SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 34
1654 PTL001 Patulous Eustachian Tube 34
1655 c MYP118 Myopathy, Myofibrillar, 8 34
1656 c SBC003 Subacute Bacterial Endocarditis 33
1657 c PSD093 Pseudohypoaldosteronism, Type Iid 33
1658 TRC115 Tracheopathia Osteoplastica 33
1659 CMB078 Combined Oxidative Phosphorylation Deficiency 32 33
1660 SZR027 Seizures, Cortical Blindness, and Microcephaly Syndrome 32
1661 SPR031 Sprengel Deformity 32
1662 c PSD090 Pseudohypoaldosteronism, Type Iia 32
1663 LNG117 Lung Pleomorphic Carcinoma 32
1664 ASB002 Asbestos-Related Lung Carcinoma 32
1665 RPD006 Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome 32
1666 MSP001 Masp2 Deficiency 32
1667 c HYD040 Hydrolethalus Syndrome 2 32
1668 LYM122 Lymphangiectasia, Pulmonary, Congenital 31
1669 c CLR069 Ciliary Dyskinesia, Primary, 8 31
1670 MCN023 Mucinous Lung Adenocarcinoma 31
1671 c LNG001 Lung Clear Cell Carcinoma 31
1672 BRN137 Bronchial Neuroendocrine Tumor 31
1673 RSP005 Respiratory System Cancer 30
1674 c LRS002 Larsen-Like Syndrome 30
1675 c CLR067 Ciliary Dyskinesia, Primary, 4 29
1676 RHM036 Rheumatoid Arthritis Interstitial Lung Disease 29
1677 c CLR059 Ciliary Dyskinesia, Primary, 13 29
1678 GLT004 Glottis Squamous Cell Carcinoma 29
1679 LNG037 Lung Sarcoma 28
1680 c CLR123 Ciliary Dyskinesia, Primary, 37 28
1681 c CLR136 Ciliary Dyskinesia, Primary, 9 28
1682 PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 28
1683 NSL005 Nasal Cavity Olfactory Neuroblastoma 27
1684 c PSD068 Pseudohypoaldosteronism, Type Iic 27
1685 NRD081 Neurodevelopmental Disorder with Microcephaly, Arthrogryposis, and Structural Brain Anomalies 27
1686 LRY005 Laryngeal Small Cell Carcinoma 27
1687 CMB085 Combined Oxidative Phosphorylation Deficiency 35 27
1688 c CLR092 Ciliary Dyskinesia, Primary, 18 27
1689 RSP004 Respiratory System Benign Neoplasm 27
1690 c PSD094 Pseudohypoaldosteronism, Type Iib 26
1691 NSL028 Nasal Cavity Benign Neoplasm 26
1692 c HRM020 Hermansky-Pudlak Syndrome 10 26
1693 IMM232 Immunodeficiency 75 26
1694 HGH021 Hughes-Stovin Syndrome 25
1695 c CLR107 Ciliary Dyskinesia, Primary, 24 25
1696 TCL026 T-Cell Lymphopenia, Infantile, with or Without Nail Dystrophy, Autosomal Dominant 24
1697 CMB079 Combined Oxidative Phosphorylation Deficiency 29 24
1698 MLT013 Malt Worker's Lung 24
1699 MPL002 Maple Bark Strippers' Lung 24
1700 c CLR139 Ciliary Dyskinesia, Primary, 39 24
1701 MXL004 Maxillary Sinus Squamous Cell Carcinoma 23
1702 HLR002 Hilar Lung Carcinoma 23
1703 c IDP012 Idiopathic Acute Eosinophilic Pneumonia 23
1704 PRP011 Puerperal Pulmonary Embolism 23
1705 c VNT026 Ventricular Septal Defect 2 23
1706 MTC215 Mitochondrial Complex Iv Deficiency, Nuclear Type 4 23
1707 c MYF011 Myofibrillar Myopathy 10 23
1708 c TRN053 Transient Pseudohypoaldosteronism 22
1709 c MYF012 Myofibrillar Myopathy 11 22
1710 c CLR145 Ciliary Dyskinesia, Primary, 45 22
1711 c CLR124 Ciliary Dyskinesia, Primary, 34 22
1712 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
1713 PLM153 Pulmonary Nodular Lymphoid Hyperplasia, Familial 22
1714 ABN012 Abnormal Origin of Right or Left Pulmonary Artery from the Aorta 22
1715 MSC201 Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome 21
1716 TRC018 Tracheal Lymphoma 21
1717 PLM116 Pulmonary Artery Hypoplasia 21
1718 LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 21
1719 HMN012 Hemangioma of Lung 21
1720 IMM251 Immunodeficiency 85 and Autoimmunity 21
1721 MTC224 Mitochondrial Complex Iv Deficiency, Nuclear Type 17 20
1722 LNG012 Lung Occult Squamous Cell Carcinoma 20
1723 MTC217 Mitochondrial Complex Iv Deficiency, Nuclear Type 8 20
1724 HLR001 Hilar Lung Neoplasm 20
1725 THR109 Thoracic Dysplasia-Hydrocephalus Syndrome 20
1726 TBS010 T-B- Severe Combined Immunodeficiency 20
1727 DFF020 Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia 19
1728 c CLR141 Ciliary Dyskinesia, Primary, 41 19
1729 MTC228 Mitochondrial Complex Iv Deficiency, Nuclear Type 21 18
1730 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 18
1731 SPR023 Supraglottis Squamous Cell Carcinoma 17
1732 WLL022 Well-Differentiated Fetal Adenocarcinoma of the Lung 17
1733 RCN002 Ricin Poisoning 17
1734 LNG022 Lung Acinar Adenocarcinoma 16
1735 IMM129 Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis 16
1736 PRS111 Persistent Fifth Aortic Arch 15
1737 LNG014 Lung Superior Sulcus Carcinoma 15
1738 LRY030 Larynx Atresia 15
1739 CHR727 Chronic Neurovisceral Acid Sphingomyelinase Deficiency 14
1740 c PSD124 Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive 12
1741 CNG392 Congenital Pulmonary Veins Atresia or Stenosis 11
1742 c PSD123 Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive 11
1743 ETH003 Ethmoid Sinus Squamous Cell Carcinoma 10
1744 16Q002 16q24.1 Microdeletion Syndrome 10
1745 SBG004 Subglottis Squamous Cell Carcinoma 7
1746 c BNG019 Benign Intermediate Mesothelioma 6
1747 ENC035 Encircling Double Aortic Arch 6
1748 SCN070 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis 4
1749 SCN071 Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease 4
1750 LNG090 Lung Combined Type Small Cell Adenocarcinoma 4
1751 c CLR027 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules 3
1752 LGN002 Legionellosis 49
1753 RSP021 Respiratory Allergy 44
1754 c LNG003 Lung Carcinoma in Situ 40
1755 LNG023 Lung Leiomyosarcoma 23
1756 c PLM164 Pulmonary Hypertension, Primary, 1 76
1757 FBR011 Fibrodysplasia Ossificans Progressiva 69
1758 P PRM011 Primary Ciliary Dyskinesia 69
1759 P ADL010 Adult Respiratory Distress Syndrome 68
1760 c DPH024 Diaphragmatic Hernia, Congenital 66
1761 BLS001 Blau Syndrome 64
1762 TKY002 Takayasu Arteritis 64
1763 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
1764 P FTL069 Fetal Akinesia Deformation Sequence 1 62
1765 TTL012 Total Anomalous Pulmonary Venous Return 1 60
1766 GST045 Gastroenteritis 59
1767 LYM004 Lymphoid Interstitial Pneumonia 58
1768 LNG108 Langerhans Cell Histiocytosis 57
1769 EXT034 Extrinsic Allergic Alveolitis 57
1770 HYP458 Hyper Ige Syndrome 56
1771 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
1772 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
1773 P LRY044 Larynx Cancer 55
1774 ALP077 Alpha-Methylacetoacetic Aciduria 55
1775 P ALL008 Allergic Bronchopulmonary Aspergillosis 55
1776 ALV002 Alveolar Echinococcosis 54
1777 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
1778 P PLM085 Pulmonary Hemosiderosis 52
1779 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
1780 ACT055 Actinomycosis 51
1781 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
1782 LRY018 Laryngeal Squamous Cell Carcinoma 51
1783 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
1784 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
1785 P FBR025 Fibrochondrogenesis 49
1786 P PLM025 Pulmonary Venoocclusive Disease 48
1787 P MTC010 Mitochondrial Dna Depletion Syndrome 47
1788 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
1789 P HYP776 Hyperparathyroidism, Neonatal Severe 46
1790 c FBR029 Fibrochondrogenesis 1 46
1791 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
1792 NSL029 Nasal Type Extranodal Nk/t-Cell Lymphoma 44
1793 c RST025 Restrictive Dermopathy 1 42
1794 CHR466 Chronic Thromboembolic Pulmonary Hypertension 42
1795 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
1796 CMB054 Combined Oxidative Phosphorylation Deficiency 23 41
1797 c FBR030 Fibrochondrogenesis 2 39
1798 P RHM037 Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis 39
1799 CMB041 Combined Oxidative Phosphorylation Deficiency 13 38
1800 c SRF004 Surfactant Metabolism Dysfunction, Pulmonary, 1 37
1801 CMB015 Combined Oxidative Phosphorylation Deficiency 4 36
1802 P RST003 Restrictive Dermopathy 36
1803 c FTL072 Fetal Akinesia Deformation Sequence 4 36
1804 PLM039 Pulmonary Neuroendocrine Tumor 36
1805 PLM052 Pulmonary Arteriovenous Malformation 36
1806 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 35
1807 PLM038 Pulmonary Large Cell Neuroendocrine Carcinoma 35
1808 LRY026 Laryngeal Cleft 34
1809 LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 34
1810 TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 33
1811 EPD118 Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome 32
1812 LRY013 Laryngeal Neuroendocrine Tumor 32
1813 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
1814 DRF001 Dirofilariasis 32
1815 LNG013 Lung Lymphoma 32
1816 STC019 Stocco Dos Santos Type X-Linked Intellectual Disability 31
1817 JBR032 Joubert Syndrome with Jeune Asphyxiating Thoracic Dystrophy 30
1818 PRN002 Paranasal Sinus Lymphoma 28
1819 IMM134 Immunodeficiency, Common Variable, 13 27
1820 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
1821 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
1822 c HYP831 Hyperparathyroidism, Transient Neonatal 26
1823 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 26
1824 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
1825 c DPH016 Diaphragmatic Hernia 3 24
1826 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
1827 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1828 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
1829 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
1830 c RST026 Restrictive Dermopathy 2 21
1831 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
1832 PRM133 Primary Pulmonary Lymphoma 19
1833 HRM027 Hermansky-Pudlak Syndrome Due to Bloc-3 Deficiency 19
1834 c DPH025 Diaphragmatic Hernia 2 18
1835 c ALL027 Allergic Bronchopulmonary Aspergillosis, Familial 17
1836 c MTC014 Mitochondrial Dna Deletion Syndromes 15
1837 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
1838 P HRN027 Hernia, Anterior Diaphragmatic 9
1839 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
1840 RRR009 Rare Respiratory Tumor 6
1841 TRC090 Trachea Mucoepidermoid Carcinoma 4
1842 PRC002 Paracoccidioidomycosis 54
1843 PHH001 Phaeohyphomycosis 40
1844 ALP103 Alpha-1-Antitrypsin Deficiency 70
1845 P GCH001 Gaucher's Disease 68
1846 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 66
1847 c ORF037 Orofaciodigital Syndrome I 64
1848 LBR038 Leber Hereditary Optic Neuropathy, Modifier of 64
1849 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
1850 CHR001 Churg-Strauss Syndrome 61
1851 FCT006 Factor V Deficiency 60
1852 c ORF040 Orofaciodigital Syndrome Viii 59
1853 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 58
1854 c ORF034 Orofaciodigital Syndrome Vi 56
1855 P RST002 Restrictive Cardiomyopathy 53
1856 c GCH016 Gaucher Disease, Type Ii 52
1857 c ORF035 Orofaciodigital Syndrome Iv 49
1858 P ORF001 Orofaciodigital Syndrome 49
1859 c ORF033 Orofaciodigital Syndrome V 47
1860 c CRD098 Cardiomyopathy, Familial Restrictive, 3 47
1861 CRY003 Cryptosporidiosis 47
1862 c GCH013 Gaucher Disease, Type Iiic 46
1863 c EPS028 Episodic Pain Syndrome, Familial, 3 45
1864 c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 43
1865 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 43
1866 P RCR004 Recurrent Respiratory Papillomatosis 42
1867 c CRD176 Cardiomyopathy, Familial Restrictive, 1 42
1868 c ORF038 Orofaciodigital Syndrome Iii 40
1869 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 40
1870 P FML340 Familial Episodic Pain Syndrome 39
1871 c EPS027 Episodic Pain Syndrome, Familial, 2 38
1872 c EPS039 Episodic Pain Syndrome, Familial, 1 38
1873 c ORF043 Orofaciodigital Syndrome Ix 38
1874 c MSC050 Muscular Dystrophy, Congenital, 1b 37
1875 IMM257 Immunodeficiency 7 36
1876 ATM081 Autoimmune Disease, Multisystem, with Facial Dysmorphism 35
1877 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 35
1878 P ACR072 Acrorenal Syndrome 34
1879 c ORF036 Orofaciodigital Syndrome Xiv 31
1880 IMM239 Immunodeficiency 79 29
1881 c ORF041 Orofaciodigital Syndrome X 28
1882 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
1883 c ORF042 Orofaciodigital Syndrome Xi 26
1884 c ORF046 Orofaciodigital Syndrome Xvi 25
1885 c ORF051 Orofaciodigital Syndrome Xvii 25
1886 c ORF052 Orofaciodigital Syndrome Xviii 25
1887 c ORF045 Orofaciodigital Syndrome Xv 24
1888 CLF051 Cleft Larynx, Posterior 23
1889 c ORF039 Orofaciodigital Syndrome Vii 21
1890 c CRD254 Cardiomyopathy, Familial Restrictive, 6 21
1891 c CRD057 Cardiomyopathy, Familial Restrictive, 2 20
1892 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20
1893 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
1894 c ACR115 Acrorenal Syndrome, Autosomal Recessive 16
1895 CNG241 Congenital Laryngeal Palsy 14
1896 c ORF054 Orofaciodigital Syndrome Xix 13
1897 c ORF006 Orofaciodigital Syndrome 13 13
1898 c ORF005 Orofaciodigital Syndrome 12 13
1899 c PSD023 Pseudo-Gaucher Disease 9
1900 PLM023 Pulmonary Artery Choriocarcinoma 7
1901 c INT457 Interstitial Lung Disease 2 76
1902 P NJM001 Nijmegen Breakage Syndrome 73
1903 P SRC025 Sarcoidosis 1 71
1904 c MCR256 Microphthalmia, Syndromic 9 68
1905 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 66
1906 P OST135 Osteogenesis Imperfecta, Type I 64
1907 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
1908 c MCR241 Microphthalmia, Syndromic 3 59
1909 c OST122 Osteogenesis Imperfecta, Type Iii 59
1910 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 58
1911 c GCH017 Gaucher Disease, Type Iii 58
1912 c OST080 Osteogenesis Imperfecta, Type Ii 58
1913 MXD005 Mixed Connective Tissue Disease 57
1914 P LRS001 Larsen Syndrome 56
1915 c OST132 Osteogenesis Imperfecta, Type Vi 54
1916 c OST121 Osteogenesis Imperfecta, Type Iv 54
1917 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52
1918 c MCR261 Microphthalmia, Syndromic 2 52
1919 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 52
1920 c MCR263 Microphthalmia, Syndromic 1 51
1921 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 51
1922 c MCR251 Microphthalmia, Syndromic 6 50
1923 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 50
1924 c SRC023 Sarcoidosis 2 50
1925 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 50
1926 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
1927 c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 48
1928 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 48
1929 c OST119 Osteogenesis Imperfecta, Type Vii 48
1930 TXC011 Toxocariasis 48
1931 c MCR245 Microphthalmia, Syndromic 8 46
1932 c NJM002 Nijmegen Breakage Syndrome-Like Disorder 46
1933 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 46
1934 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 45
1935 c OST133 Osteogenesis Imperfecta, Type Xi 45
1936 c OST118 Osteogenesis Imperfecta, Type Viii 44
1937 c MCR252 Microphthalmia, Syndromic 5 43
1938 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 42
1939 c CHR630 Chorea, Benign Hereditary 42
1940 c OST124 Osteogenesis Imperfecta, Type V 42
1941 c OST110 Osteogenesis Imperfecta, Type Xv 40
1942 c MCR312 Microphthalmia, Syndromic 10 40
1943 c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 40
1944 EPD117 Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous 39
1945 c OST130 Osteogenesis Imperfecta, Type Ix 39
1946 c OST128 Osteogenesis Imperfecta, Type Xii 37
1947 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 37
1948 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 37
1949 c OST178 Osteogenesis Imperfecta, Type Xxi 37
1950 c OST109 Osteogenesis Imperfecta, Type Xiv 37
1951 ATM086 Autoimmune Interstitial Lung, Joint, and Kidney Disease 37
1952 P MSC002 Muscular Dystrophy-Dystroglycanopathy 36
1953 c OST170 Osteogenesis Imperfecta, Type Xix 36
1954 c OST127 Osteogenesis Imperfecta, Type X 36
1955 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 35
1956 c OST123 Osteogenesis Imperfecta, Type Xiii 34
1957 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 34
1958 P SYN165 Syndromic Microphthalmia 34
1959 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 34
1960 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 33
1961 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 33
1962 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 33
1963 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 33
1964 c OST169 Osteogenesis Imperfecta, Type Xviii 33
1965 c MCR228 Microphthalmia, Syndromic 13 33
1966 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
1967 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
1968 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 32
1969 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1970 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 30
1971 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 30
1972 c MCR392 Microphthalmia, Syndromic 16 30
1973 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 30
1974 c OST139 Osteogenesis Imperfecta, Type Xvi 30
1975 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 29
1976 c OST138 Osteogenesis Imperfecta, Type Xvii 29
1977 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 29
1978 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
1979 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
1980 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 29
1981 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 27
1982 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
1983 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
1984 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 25
1985 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 24
1986 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1987 c MCR217 Microphthalmia, Syndromic 11 23
1988 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 22
1989 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 22
1990 c OST180 Osteogenesis Imperfecta, Type Xxii 21
1991 c MSC200 Muscular Dystrophy-Dystroglycanopathy , Type B, 15 20
1992 c SRC024 Sarcoidosis 3 18
1993 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 18
1994 P CHR636 Chorea, Benign Familial 12
1995 c MSC203 Muscular Dystrophy-Dystroglycanopathy Type B 10
1996 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1997 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1998 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1999 P MYC084 Mycobacterium Tuberculosis 1 68
2000 PRT037 Pertussis 64
2001 c MYC055 Mycobacterium Tuberculosis 3 14
2002 c MYC054 Mycobacterium Tuberculosis 2 13
2003 P CHR012 Chronic Granulomatous Disease 67
2004 CYS008 Cystic Echinococcosis 53
2005 c STN011 Sting-Associated Vasculopathy with Onset in Infancy 52
2006 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 47
2007 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 46
2008 MYP159 Myopathy, Proximal, with Ophthalmoplegia 46
2009 P STN012 Sting-Associated Vasculopathy, Infantile-Onset 39
2010 P BRW001 Brown-Vialetto-Van Laere Syndrome 32
2011 c LTH042 Lethal Congenital Contracture Syndrome 10 25
2012 BRT002 Birt-Hogg-Dube Syndrome 64
2013 IMM177 Immunodeficiency 54 44
2014 ELL001 Ellis-Van Creveld Syndrome 65



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