MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Aortopulmonary Septal Defect

(UMLS:C0003516)

Definition:: A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE).
UMLS ID:: C0003516
MeSH ID:: D001028

Classification 1:

Name:

Cardiovascular Diseases
MeSH Tree Number(s):: C14.240.400.560.098|C14.280.400.560.098

Classification 2:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.240.400.560.098

Synonym(s)

Aortopulmonary Septal Defect

AP - Aortopulmonary window

AP Window

APW - Aortopulmonary window

Aortic septal defect

Aorticopulmonary septal defect

Aorticopulmonary window

Aortopulmonary Window

Aortopulmonary septal anomaly

10.

Aortopulmonary septal defect

11.

Aortopulmonary window

Associated Drug(s)

	Name	Number of Reports	Reference(s)	Data Source
1	Alcohols		20374213	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Endocardial Cushion Defects	50.8%
2	Tricuspid Atresia	38.5%
3	Arrhythmogenic Right Ventricular Dysplasia	38.5%
4	Aortic coarctation	38.2%
5	Cor Triatriatum	38.2%
6	Coronary Vessel Anomalies	38.2%
7	Patent ductus arteriosus	38.2%
8	Ebstein Anomaly	38.2%
9	Tetralogy of Fallot	38.2%
10	Transposition of Great Vessels	38.2%
11	Hypoplastic Left Heart Syndrome	38.2%
12	Dextrocardia	36.4%
13	Ectopia Cordis	30.1%
14	Marfan Syndrome	27.5%
15	Noonan Syndrome	27.4%
16	Double Outlet Right Ventricle	25.1%
17	Myocardial bridging	25.1%
18	Long QT Syndrome	21.7%
19	Wolff-Parkinson-White Syndrome	20.6%
20	Myocardial Ischemia	20.1%
21	Cardiac Tamponade	16.5%
22	Endocarditis	16.5%
23	Cardiac Arrest	16.5%
24	Heart failure	16.5%
25	Pericardial effusion	16.5%
26	Pericarditis	16.5%
27	Pneumopericardium	16.5%
28	Cor pulmonale	16.5%
29	Ventricular Outflow Obstruction	16.5%
30	Ventricular Dysfunction	16.5%
31	Cardiomyopathies	16.5%
32	Pleuropericarditis	16.5%
33	Turner Syndrome	16.2%
34	Aortic Valve Stenosis	15.6%
35	Cardiomyopathy, Dilated	15.6%
36	Pulmonary Valve Stenosis	15.6%
37	May-Thurner Syndrome	15.4%
38	Vascular Diseases	15.3%
39	Kartagener Syndrome	15%
40	Scimitar Syndrome	14.9%
41	Myocardial Reperfusion Injury	14.7%
42	Single umbilical artery	14.6%
43	Romano-Ward Syndrome	14.2%
44	Dural Arteriovenous Fistula	14.1%
45	Cardiac Output, High	13.4%
46	Myocardial Stunning	13.4%
47	Low Cardiac Output Syndrome	13.4%
48	Cardiomegaly	13.2%
49	Postpericardiotomy Syndrome	13.2%
50	Cardiac Hypertrophy	13.2%
51	Heart Block	13.1%
52	Tachycardia	13.1%
53	Tachyarrhythmia	13.1%
54	Rheumatic Heart Disease	13.1%
55	Arteriovenous fistula	12.6%
56	Pregnancy Complications, Cardiovascular	12.4%
57	Coronary heart disease	11.7%
58	Myocardial Infarction	11.7%
59	Acute Coronary Syndrome	11.7%
60	Hypertrophic Cardiomyopathy	11.6%
61	Hypertrophic obstructive cardiomyopathy	11.6%
62	Abnormalities, Drug-Induced	11.1%
63	Situs Inversus	11.1%
64	Bacterial Endocarditis	10.5%
65	Supravalvular aortic stenosis	10.3%
66	Lown-Ganong-Levine Syndrome	10.3%
67	Kounis Syndrome	9.9%
68	Angina Pectoris	9.7%
69	Aortic Valve Insufficiency	9.7%
70	Restrictive cardiomyopathy	9.7%
71	Endocardial Fibroelastosis	9.7%
72	Heart Rupture, Post-Infarction	9.7%
73	Mitral Valve Insufficiency	9.7%
74	Mitral Valve Stenosis	9.7%
75	Myocarditis	9.7%
76	Pericarditis, Constrictive	9.7%
77	Pulmonary Valve Insufficiency	9.7%
78	Tricuspid Valve Insufficiency	9.7%
79	Tricuspid Valve Stenosis	9.7%
80	Ventricular Dysfunction, Left	9.7%
81	Right Ventricular Dysfunction	9.7%
82	Endomyocardial Fibrosis	9.7%
83	Carditis	9.7%
84	Heart Failure, Systolic	9.7%
85	Heart Failure, Diastolic	9.7%
86	Coronary Aneurysm	9.7%
87	Sick Sinus Syndrome	9.7%
88	Beckwith-Wiedemann Syndrome	9.5%
89	Wolf-Hirschhorn Syndrome	9.5%
90	Eye Abnormalities	9.3%
91	Carcinoid Heart Disease	9.2%
92	Skin Abnormalities	9%
93	Lymphatic Abnormalities	9%
94	Congenital Microtia	9%
95	Congenital diaphragmatic hernia	8.9%
96	Holoprosencephaly	8.7%
97	Adams-Stokes Syndrome	8.6%
98	Atrioventricular Block	8.6%
99	Bundle-Branch Block	8.6%
100	Coronary Thrombosis	8.6%
101	Atrial Premature Complexes	8.6%
102	Sinoatrial Block	8.6%
103	Tachycardia, Paroxysmal	8.6%
104	Supraventricular tachycardia	8.6%
105	Tachycardia, Ventricular	8.6%
106	Tachycardia, Reciprocating	8.6%
107	Coronary Artery Disease	8.6%
108	Aicardi's syndrome	8.5%
109	Smith-Magenis syndrome	8.3%
110	Aneurysm	8.2%
111	Angiomatosis	8.2%
112	Aortic Diseases	8.2%
113	Arterial Occlusive Diseases	8.2%
114	Hyperemia	8.2%
115	Hypotension	8.2%
116	Superior Vena Cava Syndrome	8.2%
117	Telangiectasis	8.2%
118	Vasculitis	8.2%
119	Venous Insufficiency	8.2%
120	Peripheral Vascular Diseases	8.2%
121	Embolism and Thrombosis	8.2%
122	Angiodysplasia	8.2%
123	Capillary Leak Syndrome	8.2%
124	Prehypertension	8.2%
125	Cri-du-Chat Syndrome	8.2%
126	Down Syndrome	8.2%
127	Trisomy 21	8.2%
128	Aortic Aneurysm	7.8%
129	Aortitis	7.8%
130	Sinus Arrhythmia	7.8%
131	Atrial Fibrillation	7.8%
132	Atrial Flutter	7.8%
133	Edema, Cardiac	7.8%
134	Leriche Syndrome	7.8%
135	Periphlebitis	7.8%
136	Phlebitis	7.8%
137	Thromboangiitis Obliterans	7.8%
138	Ventricular Fibrillation	7.8%
139	Ventricular Flutter	7.8%
140	Parasystole	7.8%
141	Paroxysmal atrial fibrillation	7.8%
142	Bradycardia	7.8%
143	Diabetic Cardiomyopathies	7.8%
144	Urogenital Abnormalities	7.8%
145	Cardiomyopathy, Alcoholic	7.8%
146	Sudden Cardiac Death	7.8%
147	Left Ventricular Hypertrophy	7.8%
148	Right Ventricular Hypertrophy	7.8%
149	Chagas Cardiomyopathy	7.7%
150	Coronary Occlusion	7.7%
151	Microvascular Angina	7.7%
152	Coronary Stenosis	7.7%
153	ST segment elevation myocardial infarction	7.7%
154	Embolism, Amniotic Fluid	7.7%
155	Heart Diseases	7.7%
156	Williams Syndrome	7.4%
157	Genetic Diseases, Inborn	7.2%
158	Ectodermal Dysplasia	7.2%
159	Aplasia Cutis Congenita	7.2%
160	Retinal Vein Occlusion	7.2%
161	Rubinstein-Taybi Syndrome	7.2%
162	Prader-Willi Syndrome	7.1%
163	Vascular System Injuries	6.9%
164	Compartment syndromes	6.7%
165	Hepatic Veno-Occlusive Disease	6.7%
166	Peliosis Hepatis	6.7%
167	Varicocele	6.7%
168	CHARGE Syndrome	6.6%
169	Cerebrovascular Disorders	6.6%
170	Diabetic Angiopathies	6.6%
171	Reperfusion Injury	6.6%
172	Splenic Infarction	6.6%
173	Cerebrovascular Insufficiency	6.6%
174	Vascular Neoplasms	6.6%
175	Spinal Cord Vascular Diseases	6.6%
176	Vasoplegia	6.6%
177	Hemorrhoids	6.6%
178	Thoracic Outlet Syndrome	6.6%
179	Malignant Atrophic Papulosis	6.5%
180	Anencephaly	6.5%
181	Dyspnea, Paroxysmal	6.5%
182	Shwartzman Phenomenon	6.5%
183	Postphlebitic Syndrome	6.5%
184	Shock, Cardiogenic	6.5%
185	Aortic Valve Prolapse	6.4%
186	Tricuspid Valve Prolapse	6.4%
187	Takotsubo Cardiomyopathy	6.4%
188	Angina, Unstable	6.4%
189	Tachycardia, Atrioventricular Nodal Reentry	6.4%
190	Tachycardia, Ectopic Atrial	6.4%
191	Tachycardia, Ectopic Junctional	6.4%
192	Sinus Tachycardia	6.4%
193	Torsades de Pointes	6.4%
194	Accelerated Idioventricular Rhythm	6.4%
195	Cardiovascular Abnormalities	6.2%
196	Prune Belly Syndrome	6.1%
197	Twins, Conjoined	6.1%
198	Waardenburg Syndrome	6.1%
199	Thrombophlebitis	5.9%
200	Fetal Diseases	5.8%
201	Coronary Restenosis	5.8%
202	Nail-Patella Syndrome	5.7%
203	Hand-Arm Vibration Syndrome	5.7%
204	Subacute Bacterial Endocarditis	5.7%
205	Xeroderma	5.7%
206	Mobius Syndrome	5.7%
207	Maxillofacial Abnormalities	5.6%
208	Aortic Rupture	5.6%
209	Optic Neuropathy, Ischemic	5.6%
210	Anterior Ischemic Optic Neuropathy	5.6%
211	Mesenteric vascular insufficiency	5.6%
212	Abnormalities, Radiation-Induced	5.5%
213	Blue Toe Syndrome	5.5%
214	Angioedema	5.4%
215	Colitis, Ischemic	5.4%
216	Intracranial Embolism and Thrombosis	5.4%
217	Carotid Stenosis	5.4%
218	Intracranial Aneurysm	5.4%
219	Pseudoxanthoma Elasticum	5.3%
220	Moyamoya Disease	5.2%
221	Aortic Aneurysm, Abdominal	5.1%
222	Aortic Aneurysm, Thoracic	5.1%
223	Sinus Arrest, Cardiac	5.1%
224	Carotid Artery Thrombosis	5%
225	Anophthalmos	5%
226	Anus, Imperforate	5%
227	Hydranencephaly	5%
228	Microphthalmos	5%
229	Neural Tube Defects	5%
230	Tethered Cord Syndrome	5%
231	Iniencephaly	5%
232	Craniorachischisis	5%
233	Limb Deformities, Congenital	5%
234	Exencephaly	5%
235	Septo-Optic Dysplasia	5%
236	Craniofacial Abnormalities	5%
237	Cortical Dysplasia	5%
238	Malformations of Cortical Development	5%
239	Anorectal Malformations	5%
240	Vasculitis, Central Nervous System	4.9%
241	Angioedemas, Hereditary	4.9%
242	Bloom Syndrome	4.9%
243	Aneurysm, Dissecting	4.9%
244	Arteriosclerosis	4.9%
245	Arteritis	4.9%
246	Embolism	4.9%
247	Erythromelalgia	4.9%
248	Fibromuscular Dysplasia	4.9%
249	Malignant Hypertension	4.9%
250	Raynaud Disease	4.9%
251	Thromboembolism	4.9%
252	Thrombosis	4.9%
253	Essential Hypertension	4.9%
254	Aneurysm, Ruptured	4.9%
255	Iliac Aneurysm	4.9%
256	Pulmonary artery stenosis	4.9%
257	White Coat Hypertension	4.9%
258	Systemic Vasculitis	4.9%
259	Embolus	4.9%
260	Angina Pectoris, Variant	4.8%
261	Polycystic Kidney Diseases	4.6%
262	Cockayne Syndrome	4.6%
263	Cystic Fibrosis	4.4%
264	Polyarteritis Nodosa	4.3%
265	Takayasu Arteritis	4.3%
266	Intracranial Arteriosclerosis	4.3%
267	Cerebral Atherosclerosis	4.3%
268	Cerebral Arteriosclerosis	4.3%
269	Retinal Dysplasia	4.2%
270	Blepharophimosis	4.2%
271	Laryngostenosis	4.2%
272	Mouth Abnormalities	4.2%
273	Aniridia	4.2%
274	Esophageal Atresia	4.1%
275	Intestinal Atresia	4.1%
276	Horseshoe Kidney	4.1%
277	Pectus excavatum	4.1%
278	Klippel-Feil Syndrome	4.1%
279	Gastroschisis	4.1%
280	Synostosis	4.1%
281	Epidermolysis Bullosa	4.1%
282	Acrodermatitis	4.1%
283	Lymphangiectasis, Intestinal	4.1%
284	Gianotti-Crosti Syndrome	4.1%
285	Retinal Artery Occlusion	4%
286	Retinal Vasculitis	4%
287	Hypertensive Retinopathy	4%
288	Leukomalacia, Periventricular	3.9%
289	Alstrom Syndrome	3.9%
290	Anterior Compartment Syndrome	3.9%
291	Vasculitis, Leukocytoclastic, Cutaneous	3.9%
292	Gastric Antral Vascular Ectasia	3.9%
293	Abdominal Compartment Syndrome	3.9%
294	Carotid Artery Diseases	3.9%
295	Brain Ischemia	3.9%
296	Hypotension, Orthostatic	3.9%
297	Cerebrovascular accident	3.9%
298	Giant Cell Arteritis	3.9%
299	Varicose Ulcer	3.9%
300	Vasospasm, Intracranial	3.9%
301	Spinal Cord Ischemia	3.9%
302	Intracranial Arterial Diseases	3.9%
303	Primary Graft Dysfunction	3.9%
304	Temporal Arteritis	3.9%
305	Post-Exercise Hypotension	3.9%
306	Meconium Aspiration Syndrome	3.8%
307	Smith-Lemli-Opitz Syndrome	3.8%
308	Cerebral Thrombosis	3.7%
309	Intracranial Embolism	3.7%
310	Intracranial Thrombosis	3.7%
311	Abdominal Cramps	3.7%
312	Amniotic Band Syndrome	3.7%
313	Asphyxia Neonatorum	3.7%
314	Infant, Premature, Diseases	3.7%
315	Infantile Colic	3.7%
316	Ichthyosis, X-Linked	3.7%
317	Brain Infarction	3.7%
318	Craniosynostosis	3.6%
319	Syndactyly	3.6%
320	Brachycephaly	3.6%
321	Arthrogryposis	3.6%
322	Choanal Atresia	3.6%
323	Fragile X Syndrome	3.6%
324	Tracheobronchomegaly	3.6%
325	Laryngocele	3.6%
326	CREST Syndrome	3.6%
327	Choledochal Cyst	3.6%
328	Hermaphroditism	3.6%
329	Disorders of Sex Development	3.6%
330	Cryptorchidism	3.5%
331	Hypospadias	3.5%
332	Central Nervous System Cysts	3.5%
333	Dandy-Walker Syndrome	3.5%
334	Ataxia Telangiectasia	3.5%
335	POEMS Syndrome	3.5%
336	Primary Ciliary Dyskinesia	3.5%
337	Microcephaly	3.5%
338	Macrocephaly	3.5%
339	Mesenteric Vascular Occlusion	3.3%
340	Mucocutaneous Lymph Node Syndrome	3.3%
341	Diabetic Retinopathy	3.3%
342	Sturge-Weber Syndrome	3.3%
343	Livedo Reticularis	3.3%
344	Heart Septal Defects	3.3%
345	Renal hypertension	3.3%
346	Renal Artery Obstruction	3.3%
347	Renal Artery Stenosis	3.3%
348	Vertebral Artery Dissection	3.2%
349	Hemangioma, Cavernous	3.2%
350	Basal Ganglia Cerebrovascular Disease	3.2%
351	Vascular Headaches	3.2%
352	Scurvy	3.2%
353	Arteriosclerosis Obliterans	3.2%
354	Atherosclerosis	3.2%
355	Air Embolism	3.2%
356	Endarteritis	3.2%
357	Venous Thrombosis	3.2%
358	Deep Vein Thrombosis	3.2%
359	Venous Thromboembolism	3.2%
360	Subarachnoid Hemorrhage, Traumatic	3.2%
361	Carotid Artery, Internal, Dissection	3.2%
362	Laryngomalacia	3.2%
363	Pectus carinatum	3.1%
364	Behcet Syndrome	3.1%
365	Bladder Exstrophy	3.1%
366	Epispadias	3.1%
367	Neoplastic Syndromes, Hereditary	3.1%
368	Lemierre Syndrome	3.1%
369	Multicystic Dysplastic Kidney	3.1%
370	Xeroderma Pigmentosum	3%
371	Anemia, Neonatal	3%
372	Multiple Epiphyseal Dysplasia	3%
373	Osteochondrodysplasias	3%
374	Pelger-Huet Anomaly	3%
375	Persistent Fetal Circulation Syndrome	3%
376	Werner Syndrome	3%
377	Myasthenic Syndromes, Congenital	3%
378	Kearns-Sayre syndrome	3%
379	Acrocephalosyndactylia	2.9%
380	Umbilical hernia	2.9%
381	Sinus Thrombosis, Intracranial	2.9%
382	Amelia	2.9%
383	Arachnodactyly	2.9%
384	Ectromelia	2.9%
385	Hemimelia	2.9%
386	Meningomyelocele	2.9%
387	Phocomelia	2.9%
388	Sirenomelia	2.9%
389	Spina Bifida	2.9%
390	Polydactyly	2.9%
391	Brachydactyly	2.9%
392	Plagiocephaly	2.9%
393	Lower Extremity Deformities, Congenital	2.9%
394	Upper Extremity Deformities, Congenital	2.9%
395	Carotid Artery Injuries	2.9%
396	Sjogren-Larsson Syndrome	2.8%
397	Infarction, Middle Cerebral Artery	2.8%
398	Infarction, Anterior Cerebral Artery	2.8%
399	Infarction, Posterior Cerebral Artery	2.8%
400	Ischemic contracture	2.8%
401	Cryoglobulinemia	2.8%
402	Diabetic Foot	2.8%
403	Jaw Abnormalities	2.7%
404	Porencephaly	2.7%
405	Polycystic Kidney, Autosomal Dominant	2.7%
406	Cerebral Infarction	2.7%
407	Brain Stem Infarctions	2.7%
408	Basal Cell Nevus Syndrome	2.7%
409	Kallmann Syndrome	2.7%
410	Classical Lissencephalies and Subcortical Band Heterotopias	2.7%
411	Cleft Palate	2.6%
412	Zellweger Syndrome	2.6%
413	Intermittent Claudication	2.6%
414	Pulmonary Embolism	2.6%
415	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	2.6%
416	No-Reflow Phenomenon	2.6%
417	Cerebral Arterial Diseases	2.6%
418	Dwarfism	2.6%
419	Vertebrobasilar Insufficiency	2.6%
420	Anterior Spinal Artery Syndrome	2.6%
421	Basilar Artery Stenosis	2.6%
422	Vertebral Artery Stenosis	2.6%
423	Intracranial Hemorrhage, Hypertensive	2.6%
424	Transient Cerebral Ischemia	2.6%
425	Neonatal Abstinence Syndrome	2.5%
426	Cavernous Sinus Thrombosis	2.5%
427	Sagittal Sinus Thrombosis	2.5%
428	Basal Ganglia Hemorrhage	2.5%
429	Fetal Growth Retardation	2.5%
430	Muscular Dystrophy	2.5%
431	Osteogenesis Imperfecta	2.5%
432	Fetal Hypoxia	2.5%
433	Congenital nystagmus	2.5%
434	Fetal Alcohol Spectrum Disorders	2.5%
435	Toxoplasmosis, Congenital	2.4%
436	Dental Enamel Hypoplasia	2.4%
437	Hypodontia	2.4%
438	Macrostomia	2.4%
439	Meningocele	2.4%
440	Microstomia	2.4%
441	Syphilis, Congenital	2.4%
442	Encephalocele	2.4%
443	Shy-Drager Syndrome	2.4%
444	Craniofacial Dysostosis	2.4%
445	Purpura, Hyperglobulinemic	2.4%
446	Charcot-Marie-Tooth Disease	2.4%
447	Antley-Bixler Syndrome Phenotype	2.4%
448	Poland Syndrome	2.4%
449	Anemia, Sickle Cell	2.3%
450	Thalassemia	2.3%
451	Muscular Dystrophy, Duchenne	2.3%
452	Lateral Medullary Syndrome	2.3%
453	Klinefelter Syndrome	2.2%
454	Tuberous Sclerosis	2.2%
455	Waldenstrom Macroglobulinemia	2.2%
456	Multiple Myeloma	2.2%
457	Autoimmune Lymphoproliferative Syndrome	2.1%
458	Aortopulmonary Septal Defect	2.1%
459	Hypertension, Renovascular	2.1%
460	Subarachnoid Hemorrhage	2.1%
461	Hypoxia-Ischemia, Brain	2.1%
462	Cerebral Hemorrhage	2.1%
463	Aorticopulmonary Septal Defect	2.1%
464	Hyperkeratosis, Epidermolytic	2.1%
465	Albinism	2.1%
466	Hereditary Angioedema Type III	2.1%
467	Hereditary Angioedema Types I and II	2.1%
468	Congenital Hyperinsulinism	2.1%
469	Chorioamnionitis	2.1%
470	Platybasia	2.1%
471	Gonadal Dysgenesis	2.1%
472	Bronchomalacia	2.1%
473	Adrenogenital Syndrome	2.1%
474	Tracheomalacia	2.1%
475	Ovotesticular Disorders of Sex Development	2.1%
476	Refsum Disease	2.1%
477	Familial Mediterranean Fever	2%
478	Hepatic Vein Thrombosis	2%
479	Budd-Chiari Syndrome	2%
480	Putaminal Hemorrhage	1.9%
481	Pulmonary Infarction	1.9%
482	Dementia, Vascular	1.9%
483	Dermal Sinus	1.9%
484	Spina Bifida Cystica	1.9%
485	Spina Bifida Occulta	1.9%
486	Lissencephaly	1.9%
487	Polymicrogyria	1.9%
488	Pachygyria	1.9%
489	Schizencephaly	1.9%
490	Periventricular Nodular Heterotopia	1.9%
491	Subclavian Steal Syndrome	1.9%
492	Micrognathism	1.9%
493	Pierre Robin Syndrome	1.9%
494	Pituitary Apoplexy	1.9%
495	Fabry Disease	1.9%
496	Lupus Vasculitis, Central Nervous System	1.8%
497	Wiskott-Aldrich Syndrome	1.8%
498	Hyperandrogenism	1.7%
499	Retrognathia	1.7%
500	Paralysis, Obstetric	1.7%
501	Retinopathy of Prematurity	1.7%
502	Amino Acid Metabolism, Inborn Errors	1.6%
503	Carbohydrate Metabolism, Inborn Errors	1.6%
504	Metal Metabolism, Inborn Errors	1.6%
505	Myotonic Dystrophy	1.6%
506	Progeria	1.6%
507	Lysosomal Storage Diseases	1.6%
508	Cytochrome-c Oxidase Deficiency	1.6%
509	Peroxisomal Disorders	1.6%
510	Rheumatoid Vasculitis	1.6%
511	Ophthalmia Neonatorum	1.6%
512	Granulomatosis with polyangiitis	1.6%
513	Bronchopulmonary Dysplasia	1.6%
514	Rett Syndrome	1.6%
515	Cerebral Amyloid Angiopathy	1.6%
516	Truncus Arteriosus, Persistent	1.6%
517	Prognathism	1.5%
518	Menkes Kinky Hair Syndrome	1.5%
519	MELAS Syndrome	1.5%
520	Mucopolysaccharidosis II	1.5%
521	Neuronal Ceroid-Lipofuscinoses	1.4%
522	Respiratory Distress Syndrome, Newborn	1.4%
523	Mandibulofacial Dysostosis	1.4%
524	Cutis Laxa	1.4%
525	Sickle Cell Trait	1.4%
526	Retinitis Pigmentosa	1.4%
527	Pigmentary retinopathy	1.4%
528	Porokeratosis	1.4%
529	Keratoderma, Palmoplantar	1.4%
530	Chronic granulomatous disease	1.4%
531	Welander Distal Myopathy	1.3%
532	Amyloid Neuropathies, Familial	1.3%
533	Hepatolenticular Degeneration	1.3%
534	Goldenhar Syndrome	1.2%
535	Duane Retraction Syndrome	1.2%
536	Adrenoleukodystrophy	1.2%
537	Porphyrias, Hepatic	1.2%
538	Peutz-Jeghers Syndrome	1.2%
539	Myotonia Congenita	1.2%
540	Thrombasthenia	1.2%
541	Antithrombin III Deficiency	1.2%
542	Protein C Deficiency	1.2%
543	Brain Diseases, Metabolic, Inborn	1.2%
544	Afibrinogenemia	1.2%
545	Dystonia Musculorum Deformans	1.2%
546	Factor VII Deficiency	1.2%
547	Factor X Deficiency	1.2%
548	Factor XII Deficiency	1.2%
549	Hemophilia A	1.2%
550	Activated Protein C Resistance	1.2%
551	Factor II deficiency	1.2%
552	Factor VIII Deficiency	1.2%
553	Factor V deficiency	1.2%
554	Factor XI Deficiency	1.2%
555	Hypoprothrombinemias	1.2%
556	Fanconi Anemia	1.2%
557	Nesidioblastosis	1.2%
558	Lafora Disease	1.2%
559	Unverricht-Lundborg Syndrome	1.2%
560	Anemia, Diamond-Blackfan	1.1%
561	Hydrops Fetalis	1.1%
562	Acute Chest Syndrome	1.1%
563	Galactosemias	1.1%
564	Urea Cycle Disorders, Inborn	1.1%
565	Tyrosinemias	1.1%
566	Hematoma, Subdural	1.1%
567	Hematoma, Epidural, Cranial	1.1%
568	Multiple Endocrine Neoplasia	1.1%
569	Talipes	1%
570	Congenital Hypothyroidism	1%
571	Dermatitis, Atopic	1%
572	Canavan Disease	1%
573	Alexander Disease	1%
574	Optic Atrophy, Hereditary, Leber	1%
575	Alkaptonuria	1%
576	Glycogen Storage Disease	1%
577	Hypophosphatasia	1%
578	Hyperphosphaturia	1%
579	Propionic acidemia	1%
580	Dihydropyrimidine Dehydrogenase Deficiency	1%
581	Cystinosis	1%
582	Brain Hemorrhage, Traumatic	1%
583	Denys-Drash Syndrome	1%
584	Kernicterus	0.9%
585	Hematoma, Subdural, Intracranial	0.9%
586	Hematoma, Subdural, Chronic	0.9%
587	Hematoma, Subdural, Acute	0.9%
588	Glycogen storage disease type II	0.9%
589	Congenital clubfoot	0.9%
590	Vertical Talus	0.9%
591	Huntington Disease	0.8%
592	Hyaline Membrane Disease	0.8%
593	Homocystinuria	0.8%
594	Hypolipoproteinemias	0.8%
595	Papillon-Lefevre Disease	0.8%
596	Leigh Disease	0.8%
597	Hyperlipidemia, Familial Combined	0.8%
598	Hyperlipoproteinemia Type III	0.8%
599	Mucopolysaccharidosis III	0.8%
600	Nephroblastoma	0.7%
601	Familial Periodic Paralysis	0.7%
602	Lactose Intolerance	0.7%
603	Variegate Porphyria	0.7%
604	Acute intermittent porphyria	0.7%
605	Porphyria Cutanea Tarda	0.7%
606	Hyperhomocysteinemia	0.7%
607	Renal Aminoacidurias	0.7%
608	Fanconi Syndrome	0.7%
609	Pseudohypoaldosteronism	0.7%
610	Liddle Syndrome	0.7%
611	Hyperlipoproteinemia Type IV	0.7%
612	Hyperlipoproteinemia Type V	0.7%
613	Adenomatous Polyposis Coli	0.7%
614	Carbamoyl-Phosphate Synthase I Deficiency Disease	0.6%
615	Glycogen Storage Disease Type I	0.6%
616	Glycogen Storage Disease Type V	0.6%
617	Gout	0.6%
618	Multiple Endocrine Neoplasia Type 1	0.6%
619	Pseudohypoparathyroidism	0.6%
620	Friedreich Ataxia	0.6%
621	Renal tubular acidosis	0.6%
622	Gaucher Disease	0.6%
623	Hypoalphalipoproteinemias	0.5%
624	Glycosuria, Renal	0.5%
625	Hypokalemic periodic paralysis	0.5%
626	Niemann-Pick Disease, Type C	0.5%
627	Cystinuria	0.5%
628	Tay-Sachs Disease	0.4%
629	Familial Hypophosphatemic Rickets	0.4%
630	Arthritis, Gouty	0.4%

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