MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Craniofacial Abnormalities

(UMLS:C0376634)

Definition:: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
UMLS ID:: C0376634
MeSH ID:: D019465

Classification 1:

Name:

Musculoskeletal Diseases
MeSH Tree Number(s):: C05.660.207

Classification 2:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.131.621.207

Synonym(s)

Craniofacial Abnormalities

abnormalities craniofacial

anomalies craniofacial

craniofacial abnormalities

Associated Drug(s)

	Name	Reference(s)	Data Source
1	2-(2-chloro-4-iodophenylamino)-N-cyclopropylmethoxy-3,4-difluorobenzamide	17895999	CTD
2	3,4,5,3',4'-pentachlorobiphenyl	17686920 25711857	CTD
3	6-methyl-2-(phenylethynyl)pyridine	17065172	CTD
4	Acitretin	8838291	CTD
5	Alcohols	View details 10194807 11198716 11873399 15451039 15451040 15513904 19302082 22298809 24646710 28919490	CTD
6	Aminopterin	10413333	CTD
7	Arachidonic Acid	3141453	CTD
8	Benzene	15643154	CTD
9	Carbamazepine	9014606 15644835 17264463	CTD
10	Carbimazole	9450891	CTD
11	Dexamethasone	17728286 28453788	CTD
12	Dextromethorphan	20737414	CTD
13	Dichloroacetic Acid	15736158	CTD
14	Disulfiram	20530235	CTD
15	Estradiol	29499231	CTD
16	Etretinate	9021329 9200351	CTD
17	Fluconazole	8838193	CTD
18	Fluorouracil	29258758	CTD
19	Hydrocortisone	17728286	CTD
20	Imatinib Mesylate	18322153	CTD
21	Isotretinoin	View details 6237184 9879862 12149069 18769834	CTD
22	Ketamine	28215996	CTD
23	Leflunomide	17604599	CTD
24	Leucovorin	16925845	CTD
25	Methanol	15108243	CTD
26	Methimazole	11038449 16440566 25962731	CTD
27	Methotrexate	View details 9562676 10413333 12039119 23836430	CTD
28	Mianserin	10978843	CTD
29	Nitric Oxide	17676596	CTD
30	Permethrin	19861644	CTD
31	Phenobarbital	15644835	CTD
32	Phenylthiourea	25962731	CTD
33	Phenytoin	View details 3141453 7199765 8986270 9212184 10798072 15644835 19952982	CTD
34	Polychlorinated Dibenzodioxins	View details 10048152 15322242 19279074 20055451 22403156 26320568	CTD
35	Ritanserin	10978843 14991402	CTD
36	Thalidomide	9200351	CTD
37	Thiram	20530235	CTD
38	Toluene	9294310	CTD
39	Tretinoin	View details 8800419 9125849 9142499 9211117 9224671 9664655 10589399 10923335 14991402 16925845 17551590	CTD
40	Triamcinolone Acetonide	7166596	CTD
41	Trimethadione	413897	CTD
42	Valproic Acid	View details 7852547 8888407 11223853 16575769 17688650 20025093	CTD
43	Vitamin A	10992263	CTD
44	Vitamin E	19769572	CTD
45	Warfarin	7359739 17107801 20922410	CTD
46	XAV939	25711857	CTD
47	benz(a)anthracene	29630969	CTD
48	bisphenol A	View details 22194820 23637088 29016128 30075455	CTD
49	bisphenol F	29016128	CTD
50	chlorpyrifos-ethyl	23637088	CTD
51	cyclopamine	17728282	CTD
52	decamethrin	19861644	CTD
53	dibenzothiophene	15081266	CTD
54	ethyl tert-butyl ether	22609741	CTD
55	flusilazole	22382673	CTD
56	glyphosate	20695457	CTD
57	kenpaullone	25711857	CTD
58	methyldithiocarbamate	20530235	CTD
59	mycophenolic acid glucuronide	22914985	CTD
60	nitrofen	11405365	CTD
61	ochratoxin A	20036863	CTD
62	phenanthrene	15081266	CTD
63	pyrene	22336231	CTD
64	retene	29630969	CTD
65	tertiary-amyl methyl ether	22609741	CTD
66	triadimefon	View details 15834900 16875885 16910123 21254369 21272633 21594970	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Limb Deformities, Congenital	44.8%
2	Pectus excavatum	39.7%
3	Arthrogryposis	39.5%
4	Syndactyly	39%
5	Klippel-Feil Syndrome	38.8%
6	Synostosis	38.8%
7	Gastroschisis	35.4%
8	Amelia	32.8%
9	Arachnodactyly	32.8%
10	Ectromelia	32.8%
11	Hemimelia	32.8%
12	Phocomelia	32.8%
13	Sirenomelia	32.8%
14	Polydactyly	32.8%
15	Brachydactyly	32.8%
16	Lower Extremity Deformities, Congenital	32.8%
17	Upper Extremity Deformities, Congenital	32.8%
18	Pectus carinatum	32.4%
19	Poland Syndrome	32.2%
20	Acrocephalosyndactylia	28.5%
21	Talipes	22.8%
22	Antley-Bixler Syndrome Phenotype	21.9%
23	Abnormalities, Drug-Induced	20.9%
24	Situs Inversus	20.9%
25	Craniosynostosis	20.6%
26	Brachycephaly	20.6%
27	Congenital clubfoot	20.5%
28	Vertical Talus	20.5%
29	Beckwith-Wiedemann Syndrome	18.9%
30	Wolf-Hirschhorn Syndrome	18.9%
31	Laryngomalacia	17.8%
32	Eye Abnormalities	16.4%
33	Cardiovascular Abnormalities	16.4%
34	Smith-Magenis syndrome	15.9%
35	Skin Abnormalities	15.8%
36	Lymphatic Abnormalities	15.8%
37	Congenital Microtia	15.8%
38	Cri-du-Chat Syndrome	15.6%
39	Down Syndrome	15.6%
40	Trisomy 21	15.6%
41	Congenital diaphragmatic hernia	15.4%
42	Bronchomalacia	15%
43	Tracheomalacia	15%
44	Nail-Patella Syndrome	14.9%
45	Aicardi's syndrome	14.9%
46	Bone Diseases	14.6%
47	Fasciitis	14.6%
48	Foot Deformities	14.6%
49	Arthropathy	14.6%
50	Anencephaly	14.1%
51	Contracture	14%
52	Osteoarthropathy, Secondary Hypertrophic	14%
53	Fasciitis, Plantar	14%
54	Holoprosencephaly	13.7%
55	Prune Belly Syndrome	13.6%
56	Twins, Conjoined	13.6%
57	Waardenburg Syndrome	13.6%
58	Ectodermal Dysplasia	13.5%
59	Aplasia Cutis Congenita	13.5%
60	Prader-Willi Syndrome	13.3%
61	Urogenital Abnormalities	13%
62	Marfan Syndrome	12.5%
63	CHARGE Syndrome	12.3%
64	Genetic Diseases, Inborn	12.2%
65	Rubinstein-Taybi Syndrome	12.2%
66	Dural Arteriovenous Fistula	11.9%
67	Dextrocardia	11.7%
68	Jaw Diseases	11.3%
69	Osteoarthritis, Spine	11.3%
70	Fibromyalgia	11.1%
71	Osteochondritis	11.1%
72	Polymyalgia Rheumatica	11.1%
73	Gout	11.1%
74	Metatarsalgia	11%
75	Cartilage Diseases	10.9%
76	Foot Diseases	10.9%
77	Myopathy	10.9%
78	Rheumatism	10.9%
79	Chondromalacia	10.9%
80	Kartagener Syndrome	10.8%
81	Cockayne Syndrome	10.5%
82	Anophthalmos	10.3%
83	Anus, Imperforate	10.3%
84	Hydranencephaly	10.3%
85	Microphthalmos	10.3%
86	Multiple Epiphyseal Dysplasia	10.3%
87	Neural Tube Defects	10.3%
88	Osteochondrodysplasias	10.3%
89	Tethered Cord Syndrome	10.3%
90	Iniencephaly	10.3%
91	Craniorachischisis	10.3%
92	Exencephaly	10.3%
93	Septo-Optic Dysplasia	10.3%
94	Cortical Dysplasia	10.3%
95	Malformations of Cortical Development	10.3%
96	Anorectal Malformations	10.3%
97	Xeroderma	10.2%
98	Mobius Syndrome	10.2%
99	Bloom Syndrome	10.2%
100	Hip Contracture	10.2%
101	Periarthritis	10.2%
102	Ischemic contracture	10.1%
103	Ankylosing spondylitis	9.8%
104	Rheumatic Fever	9.5%
105	Temporomandibular Joint Disorders	9.4%
106	Arthritis	9.3%
107	Bone Diseases, Developmental	9.3%
108	Bursitis	9.3%
109	Hyperostosis	9.3%
110	Joint Instability	9.3%
111	Myofascial Pain Syndromes	9.3%
112	Osteitis	9.3%
113	Osteitis Deformans	9.3%
114	Osteochondrosis	9.3%
115	Rhabdomyolysis	9.3%
116	Spinal Diseases	9.3%
117	Synovitis	9.3%
118	Joint laxity	9.3%
119	Polyarthritis	9.3%
120	Frozen shoulder	9.3%
121	Patellofemoral Pain Syndrome	9.3%
122	Osteoarthritis, Knee	9.2%
123	Fetal Diseases	9.1%
124	Scimitar Syndrome	9%
125	Temporomandibular Joint Dysfunction Syndrome	9%
126	Polycystic Kidney Diseases	8.9%
127	Williams Syndrome	8.9%
128	Arthritis, Gouty	8.7%
129	Abnormalities, Radiation-Induced	8.6%
130	Dwarfism	8.6%
131	Fragile X Syndrome	8.4%
132	Alstrom Syndrome	8.4%
133	Blepharophimosis	8.3%
134	Laryngostenosis	8.3%
135	Mouth Abnormalities	8.3%
136	Esophageal Atresia	8.2%
137	Intestinal Atresia	8.2%
138	Horseshoe Kidney	8.2%
139	Muscular Dystrophy	8.2%
140	Basal Cell Nevus Syndrome	8.1%
141	Acrodermatitis	8.1%
142	Gigantism	8.1%
143	Lymphangiectasis, Intestinal	8.1%
144	Spinal Neoplasms	8.1%
145	Spondylitis	8.1%
146	Gianotti-Crosti Syndrome	8.1%
147	Arthritis, Psoriatic	8.1%
148	Rheumatoid Arthritis	8%
149	Juvenile arthritis	8%
150	Classical Lissencephalies and Subcortical Band Heterotopias	8%
151	Retinal Dysplasia	7.9%
152	Spondylarthropathies	7.9%
153	Aniridia	7.8%
154	Primary Ciliary Dyskinesia	7.8%
155	Epidermolysis Bullosa	7.7%
156	Ectopia Cordis	7.6%
157	Meningomyelocele	7.6%
158	Spina Bifida	7.6%
159	Single umbilical artery	7.6%
160	Arthritis, Reactive	7.5%
161	Osteogenesis Imperfecta	7.5%
162	Smith-Lemli-Opitz Syndrome	7.4%
163	Turner Syndrome	7.4%
164	Rheumatoid Nodule	7.3%
165	Bone Diseases, Endocrine	7.3%
166	Congenital Hypothyroidism	7.2%
167	Ichthyosis, X-Linked	7.2%
168	Muscular Dystrophy, Duchenne	7.2%
169	Jaw Abnormalities	7.2%
170	Cystic Fibrosis	7.1%
171	Bone Diseases, Infectious	7%
172	Bone neoplasms	7%
173	Compartment syndromes	7%
174	Maxillary Diseases	7%
175	Osteopenia	7%
176	Tendinitis	7%
177	Tendinopathy	7%
178	Myotonic Dystrophy	7%
179	Abdominal Cramps	7%
180	Amniotic Band Syndrome	7%
181	Asphyxia Neonatorum	7%
182	Choanal Atresia	7%
183	Infant, Premature, Diseases	7%
184	Tracheobronchomegaly	7%
185	Infantile Colic	7%
186	Laryngocele	7%
187	Bone Resorption	6.9%
188	Choledochal Cyst	6.9%
189	Hemarthrosis	6.9%
190	Hermaphroditism	6.9%
191	Myositis	6.9%
192	Disorders of Sex Development	6.9%
193	Tietze's Syndrome	6.9%
194	Isaacs syndrome	6.9%
195	Aseptic Necrosis of Bone	6.9%
196	Myotonic Disorders	6.9%
197	Ainhum	6.8%
198	Bunion	6.8%
199	Cryptorchidism	6.8%
200	Dysostoses	6.8%
201	Fibrodysplasia Ossificans Progressiva	6.8%
202	Myoglobinuria	6.8%
203	Myositis Ossificans	6.8%
204	Spinal Stenosis	6.8%
205	Spondylosis	6.8%
206	Tenosynovitis	6.8%
207	Intervertebral Disc Degeneration	6.8%
208	Sacroiliitis	6.8%
209	Hypospadias	6.8%
210	Central Nervous System Cysts	6.8%
211	Maxillofacial Abnormalities	6.8%
212	Dandy-Walker Syndrome	6.7%
213	Cleft Palate	6.7%
214	Platybasia	6.7%
215	POEMS Syndrome	6.7%
216	Discitis	6.6%
217	Polycystic Kidney, Autosomal Dominant	6.5%
218	Prognathism	6.4%
219	Klinefelter Syndrome	6.3%
220	Dermal Sinus	6.2%
221	Spina Bifida Cystica	6.2%
222	Spina Bifida Occulta	6.2%
223	Lissencephaly	6.2%
224	Polymicrogyria	6.2%
225	Pachygyria	6.2%
226	Schizencephaly	6.2%
227	Periventricular Nodular Heterotopia	6.2%
228	Familial Periodic Paralysis	6.2%
229	Felty Syndrome	6.1%
230	Aortic coarctation	6%
231	Cor Triatriatum	6%
232	Coronary Vessel Anomalies	6%
233	Dental Enamel Hypoplasia	6%
234	Patent ductus arteriosus	6%
235	Ebstein Anomaly	6%
236	Heart Septal Defects	6%
237	Hypodontia	6%
238	Macrostomia	6%
239	Meningocele	6%
240	Microstomia	6%
241	Tetralogy of Fallot	6%
242	Transposition of Great Vessels	6%
243	Hypoplastic Left Heart Syndrome	6%
244	May-Thurner Syndrome	6%
245	Encephalocele	6%
246	Pseudoxanthoma Elasticum	6%
247	Welander Distal Myopathy	6%
248	Wolff-Parkinson-White Syndrome	6%
249	Meconium Aspiration Syndrome	5.9%
250	Sjogren-Larsson Syndrome	5.8%
251	Bladder Exstrophy	5.8%
252	Epispadias	5.8%
253	Multicystic Dysplastic Kidney	5.8%
254	Charcot-Marie-Tooth Disease	5.6%
255	Chondrodysplasia Punctata	5.6%
256	Enchondromatosis	5.6%
257	Lordosis	5.6%
258	Osteosclerosis	5.6%
259	Spondylolysis	5.6%
260	kyphosis	5.6%
261	Kashin-Beck Disease	5.6%
262	Kallmann Syndrome	5.6%
263	Myotonia Congenita	5.6%
264	Medial Tibial Stress Syndrome	5.6%
265	Micrognathism	5.5%
266	Pierre Robin Syndrome	5.5%
267	Hyperkeratosis, Epidermolytic	5.5%
268	Mitochondrial Myopathies	5.5%
269	Tuberculosis, Spinal	5.5%
270	Neoplastic Syndromes, Hereditary	5.5%
271	Muscle Cramp	5.4%
272	Eosinophilia-Myalgia Syndrome	5.4%
273	Xeroderma Pigmentosum	5.4%
274	Muscle Rigidity	5.4%
275	Muscle Spasticity	5.4%
276	Cogwheel Rigidity	5.4%
277	Nuchal Rigidity	5.4%
278	Rheumatoid Vasculitis	5.2%
279	Anemia, Neonatal	5.2%
280	Arthritis, Infectious	5.2%
281	Pelger-Huet Anomaly	5.2%
282	Persistent Fetal Circulation Syndrome	5.2%
283	Werner Syndrome	5.2%
284	Myasthenic Syndromes, Congenital	5.2%
285	Umbilical hernia	5.1%
286	Anterior Compartment Syndrome	5.1%
287	Osteomyelitis	5.1%
288	Osteoporosis	5.1%
289	Periostitis	5.1%
290	Enthesopathy	5.1%
291	Bone Demineralization, Pathologic	5.1%
292	Post-Traumatic Osteoporosis	5.1%
293	Arthritis, Experimental	5.1%
294	Abdominal Compartment Syndrome	5.1%
295	Alveolar Bone Loss	5%
296	Femur Head Necrosis	5%
297	Polymyositis	5%
298	Osteolysis	5%
299	Long QT Syndrome	5%
300	Melorheostosis	5%
301	Osteopetrosis	5%
302	Spondylolisthesis	5%
303	Tricuspid Atresia	5%
304	Arrhythmogenic Right Ventricular Dysplasia	5%
305	Gonadal Dysgenesis	5%
306	Adrenogenital Syndrome	5%
307	Ovotesticular Disorders of Sex Development	5%
308	Zellweger Syndrome	5%
309	Aortopulmonary Septal Defect	5%
310	Double Outlet Right Ventricle	5%
311	Endocardial Cushion Defects	5%
312	Myocardial bridging	5%
313	Aorticopulmonary Septal Defect	5%
314	Retrognathia	4.9%
315	Hyperandrogenism	4.9%
316	Tuberous Sclerosis	4.8%
317	Chronic Fatigue Syndrome	4.8%
318	Hypokalemic periodic paralysis	4.7%
319	Giant Cell Epulis	4.6%
320	Muscle Weakness	4.6%
321	Sicca Syndrome	4.6%
322	Sjogren's Syndrome	4.6%
323	Familial Mediterranean Fever	4.5%
324	Musculoskeletal Pain	4.5%
325	Refsum Disease	4.5%
326	Arthralgia	4.5%
327	Polyarthralgia	4.5%
328	Anemia, Sickle Cell	4.5%
329	Thalassemia	4.5%
330	Truncus Arteriosus, Persistent	4.4%
331	Palatal Neoplasms	4.3%
332	Pseudohypoparathyroidism	4.3%
333	Neonatal Abstinence Syndrome	4.2%
334	Hip Dislocation	4.2%
335	Osteoporosis, Postmenopausal	4.2%
336	Shoulder Dislocation	4.2%
337	Hip Dysplasia	4.2%
338	Microcephaly	4.1%
339	Macrocephaly	4.1%
340	Fetal Growth Retardation	4.1%
341	Romano-Ward Syndrome	4.1%
342	Porencephaly	4.1%
343	Albinism	4.1%
344	Fetal Hypoxia	4.1%
345	Congenital nystagmus	4.1%
346	Orbital Myositis	4.1%
347	Fetal Alcohol Spectrum Disorders	4.1%
348	Dupuytren Contracture	4.1%
349	Toxoplasmosis, Congenital	4%
350	Syphilis, Congenital	4%
351	Pyomyositis	4%
352	Acromegaly	4%
353	Joint Tuberculosis	4%
354	Tuberculosis, Osteoarticular	4%
355	Bone Tuberculosis	4%
356	Rett Syndrome	4%
357	Eosinophilic Granuloma	3.8%
358	Myalgia	3.8%
359	Noonan Syndrome	3.8%
360	Mucopolysaccharidosis II	3.6%
361	Paralysis, Obstetric	3.4%
362	Retinopathy of Prematurity	3.4%
363	Autoimmune Lymphoproliferative Syndrome	3.4%
364	Congenital Hyperinsulinism	3.4%
365	Amino Acid Metabolism, Inborn Errors	3.4%
366	Carbohydrate Metabolism, Inborn Errors	3.4%
367	Chorioamnionitis	3.4%
368	Metal Metabolism, Inborn Errors	3.4%
369	Progeria	3.4%
370	Lysosomal Storage Diseases	3.4%
371	Cytochrome-c Oxidase Deficiency	3.4%
372	Peroxisomal Disorders	3.4%
373	Bronchopulmonary Dysplasia	3.4%
374	Angioedemas, Hereditary	3.4%
375	Rickets	3.3%
376	Craniofacial Dysostosis	3.3%
377	Wiskott-Aldrich Syndrome	3.3%
378	Mastoiditis	3.3%
379	Petrositis	3.3%
380	Shoulder Pain	3.3%
381	Sickle Cell Trait	3.3%
382	Menkes Kinky Hair Syndrome	3.3%
383	Arteriovenous fistula	3.1%
384	Neuronal Ceroid-Lipofuscinoses	3.1%
385	Mitochondrial Encephalomyopathies	2.8%
386	Dermatomyositis	2.8%
387	Respiratory Distress Syndrome, Newborn	2.8%
388	Goldenhar Syndrome	2.8%
389	Cutis Laxa	2.7%
390	Osteomalacia	2.7%
391	Retinitis Pigmentosa	2.7%
392	Pigmentary retinopathy	2.7%
393	Porokeratosis	2.7%
394	Keratoderma, Palmoplantar	2.7%
395	Chronic granulomatous disease	2.7%
396	Adrenoleukodystrophy	2.6%
397	Amyloid Neuropathies, Familial	2.6%
398	Hepatolenticular Degeneration	2.5%
399	Acute Chest Syndrome	2.5%
400	Alkaptonuria	2.5%
401	Glycogen Storage Disease	2.5%
402	Hypophosphatasia	2.5%
403	Propionic acidemia	2.5%
404	Dihydropyrimidine Dehydrogenase Deficiency	2.5%
405	Cystinosis	2.5%
406	Ophthalmia Neonatorum	2.5%
407	Mandibulofacial Dysostosis	2.5%
408	Fabry Disease	2.5%
409	Galactosemias	2.5%
410	Urea Cycle Disorders, Inborn	2.5%
411	Tyrosinemias	2.5%
412	Denys-Drash Syndrome	2.4%
413	Glycogen storage disease type II	2.4%
414	Hydrops Fetalis	2.4%
415	MELAS Syndrome	2.4%
416	Mucopolysaccharidosis III	2.3%
417	Duane Retraction Syndrome	2.3%
418	Porphyrias, Hepatic	2.3%
419	Ataxia Telangiectasia	2.3%
420	Peutz-Jeghers Syndrome	2.2%
421	Thrombasthenia	2.2%
422	Antithrombin III Deficiency	2.2%
423	Protein C Deficiency	2.2%
424	Brain Diseases, Metabolic, Inborn	2.2%
425	Afibrinogenemia	2.2%
426	Dystonia Musculorum Deformans	2.2%
427	Factor VII Deficiency	2.2%
428	Factor X Deficiency	2.2%
429	Factor XII Deficiency	2.2%
430	Hemophilia A	2.2%
431	Leukomalacia, Periventricular	2.2%
432	Activated Protein C Resistance	2.2%
433	Factor II deficiency	2.2%
434	Factor VIII Deficiency	2.2%
435	Factor V deficiency	2.2%
436	Factor XI Deficiency	2.2%
437	Hypoprothrombinemias	2.2%
438	Fanconi Anemia	2.2%
439	Nesidioblastosis	2.2%
440	Lafora Disease	2.2%
441	Unverricht-Lundborg Syndrome	2.2%
442	Anemia, Diamond-Blackfan	2.2%
443	Optic Atrophy, Hereditary, Leber	2.2%
444	Hyperphosphaturia	2.2%
445	Familial Hypophosphatemic Rickets	2.2%
446	Canavan Disease	2.1%
447	Alexander Disease	2.1%
448	Radicular Cyst	2.1%
449	Glycogen Storage Disease Type I	2.1%
450	Glycogen Storage Disease Type V	2.1%
451	Hyaline Membrane Disease	2%
452	Homocystinuria	2%
453	Leigh Disease	2%
454	Hypolipoproteinemias	2%
455	Papillon-Lefevre Disease	2%
456	Hyperlipidemia, Familial Combined	2%
457	Multiple Endocrine Neoplasia	2%
458	Hyperlipoproteinemia Type III	2%
459	Gaucher Disease	2%
460	Dermatitis, Atopic	1.9%
461	Nose Neoplasms	1.9%
462	Renal Osteodystrophy	1.8%
463	Renal rickets	1.8%
464	Carbamoyl-Phosphate Synthase I Deficiency Disease	1.8%
465	Tay-Sachs Disease	1.8%
466	Niemann-Pick Disease, Type C	1.7%
467	Kernicterus	1.7%
468	Behcet Syndrome	1.7%
469	Lactose Intolerance	1.7%
470	Variegate Porphyria	1.7%
471	Acute intermittent porphyria	1.7%
472	Porphyria Cutanea Tarda	1.7%
473	Hyperhomocysteinemia	1.7%
474	Renal Aminoacidurias	1.6%
475	Fanconi Syndrome	1.6%
476	Pseudohypoaldosteronism	1.6%
477	Liddle Syndrome	1.6%
478	Hypoalphalipoproteinemias	1.6%
479	Hyperlipoproteinemia Type IV	1.6%
480	Hyperlipoproteinemia Type V	1.6%
481	Huntington Disease	1.5%
482	Multiple Endocrine Neoplasia Type 1	1.4%
483	Friedreich Ataxia	1.4%
484	Renal tubular acidosis	1.4%
485	Cystinuria	1.4%
486	Kearns-Sayre syndrome	1.4%
487	Nephroblastoma	1.3%
488	Adenomatous Polyposis Coli	1.2%
489	Glycosuria, Renal	1.1%

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