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