gene dosage; Gene Copy Number

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	Diseases	Rating	Bibliogr.
1	Chromosome Duplication	100	+ +
2	Chromosome Aberrations	96	+ +
3	Chromosome Disorders	94	+ +
4	Chromosome Deletion	87	+ +
5	Trisomy	87	+ +
6	Charcot-Marie-Tooth Disease	78	+ +
7	Intellectual Disability	75	+ +
8	Abnormalities, Multiple	73	+ +
9	Sotos Syndrome	71	+ +
10	Genetic Predisposition to Disease	55	+ +
11	Translocation, Genetic	48	+ +
12	22q11 Deletion Syndrome	43	+ +
13	Developmental Disabilities	41	+ +
14	Syndrome	35	+ +
15	Abnormal Karyotype	34	+ +
16	Pelizaeus-Merzbacher Disease	34	+ +
17	Autistic Disorder	33	+ +
18	Mitochondrial Diseases	31	+ +
19	Facies	31	+ +
20	Child Development Disorders, Pervasive	30	+ +
21	Genetic Diseases, X-Linked	29	+ +
22	Uniparental Disomy	29	+ +
23	Aneuploidy	25	+ +
24	Language Development Disorders	24	+ +
25	Muscular Atrophy, Spinal	23	+ +
26	Angelman Syndrome	23	+ +
27	Chromosome Breakage	20	+ +
28	Genomic Instability	20	+ +
29	Neuroblastoma	18	+ +
30	Learning Disorders	18	+ +
31	Disease Progression	17	+ +
32	Prader-Willi Syndrome	17	+ +
33	Nevus, Epithelioid and Spindle Cell	16	+ +
34	Mitochondrial Myopathies	16	+ +
35	Epilepsy	14	+ +
36	Herpesviridae Infections	11	+ +
37	Tumor Virus Infections	11	+ +
38	Melanoma	10	+ +
39	Growth Disorders	9	+ +
40	Skin Neoplasms	9	+ +
41	HIV Infections	8	+ +
42	Lung Neoplasms	8	+ +
43	Mental Retardation, X-Linked	8	+ +
44	Chromosome Inversion	8	+ +
45	Craniofacial Abnormalities	7	+ +
46	Sex Chromosome Aberrations	7	+ +
47	Microcephaly	7	+ +
48	Precursor Cell Lymphoblastic Leukemia-Lymphoma	7	+ +
49	Muscle Hypotonia	7	+ +
50	Recurrence	7	+ +
51	Muscular Dystrophies	6	+ +
52	Spinal Muscular Atrophies of Childhood	6	+ +
53	Obesity	6	+ +
54	Seizures	6	+ +
55	Genetic Diseases, Inborn	6	+ +
56	Viremia	6	+ +
57	Congenital Hypothyroidism	6	+ +
58	alpha-Thalassemia	6	+ +
59	Chronic Disease	6	+ +
60	beta-Thalassemia	6	+ +
61	Retinitis Pigmentosa	6	+ +
62	Disease Models, Animal	6	+ +
63	Diseases in Twins	6	+ +
64	Leukemia, Myeloid, Acute	5	+ +
65	Tetrasomy	5	+ +
66	Diabetes Mellitus, Type 2	5	+ +
67	Disorders of Sex Development	5	+ +
68	Osteochondrodysplasias	5	+ +
69	Adrenal Hyperplasia, Congenital	5	+ +
70	Gonadal Dysgenesis, 46,XY	5	+ +
71	Deafness	5	+ +
72	Diabetes Mellitus	5	+ +
73	Kallmann Syndrome	5	+ +
74	Rett Syndrome	5	+ +
75	Muscular Diseases	5	+ +
76	Metabolism, Inborn Errors	5	+ +
77	Lymphoma, B-Cell	5	+ +
78	Craniosynostoses	5	+ +
79	Down Syndrome	5	+ +
80	Leukemia, Myelogenous, Chronic, BCR-ABL Positive	4	+ +
81	Albinism, Oculocutaneous	4	+ +
82	Schizophrenia	4	+ +
83	Alzheimer Disease	4	+ +
84	Monosomy	4	+ +
85	Ataxia	4	+ +
86	Ring Chromosomes	4	+ +
87	Sex Chromosome Disorders	4	+ +
88	Dystonia	4	+ +
89	Immunologic Deficiency Syndromes	4	+ +
90	Diabetes Mellitus, Type 1	4	+ +
91	Fragile X Syndrome	4	+ +
92	Leukemia, Lymphocytic, Chronic, B-Cell	4	+ +
93	Hyperkinesis	4	+ +
94	Hemophilia A	4	+ +
95	Nervous System Diseases	4	+ +
96	Hereditary Sensory and Motor Neuropathy	4	+ +
97	Cell Transformation, Neoplastic	4	+ +
98	46, XY Disorders of Sex Development	4	+ +
99	Cognition Disorders	4	+ +
100	Dementia	4	+ +
101	Leukemia, B-Cell	4	+ +
102	Substance Withdrawal Syndrome	4	+ +
103	Hand Deformities, Congenital	4	+ +
104	Hearing Loss, Sensorineural	4	+ +
105	Neoplasms	4	+ +
106	Hypothyroidism	4	+ +
107	Hypogonadism	4	+ +
108	Thyroid Hormone Resistance Syndrome	4	+ +
109	Heart Defects, Congenital	4	+ +
110	Muscular Dystrophies, Limb-Girdle	4	+ +
111	Goiter	4	+ +
112	Atrophy	4	+ +
113	Kidney Diseases	4	+ +
114	Retinal Degeneration	3	+ +
115	Muscle Weakness	3	+ +
116	Nystagmus, Congenital	3	+ +
117	Kidney Failure, Chronic	3	+ +
118	Mitochondrial Encephalomyopathies	3	+ +
119	Spinocerebellar Ataxias	3	+ +
120	Myelodysplastic Syndromes	3	+ +
121	Brain Neoplasms	3	+ +
122	Eye Abnormalities	3	+ +
123	Lymphoproliferative Disorders	3	+ +
124	Multiple Endocrine Neoplasia Type 1	3	+ +
125	Amyotrophic Lateral Sclerosis	3	+ +
126	Neutropenia	3	+ +
127	Apraxias	3	+ +
128	Breast Neoplasms	3	+ +
129	Hyperlipoproteinemia Type II	3	+ +
130	Alopecia	3	+ +
131	Dwarfism	3	+ +
132	Thrombocytopenia	3	+ +
133	Psychoses, Substance-Induced	3	+ +
134	Polyploidy	3	+ +
135	Epilepsies, Myoclonic	3	+ +
136	Parkinson Disease	3	+ +
137	Keratoderma, Palmoplantar	3	+ +
138	Hemochromatosis	3	+ +
139	Neoplasms, Multiple Primary	3	+ +
140	Acute Disease	3	+ +
141	Ectodermal Dysplasia	3	+ +
142	Leigh Disease	3	+ +
143	Limb Deformities, Congenital	3	+ +
144	Corneal Dystrophies, Hereditary	3	+ +
145	Agammaglobulinemia	3	+ +
146	Hepatitis B, Chronic	3	+ +
147	Androgen-Insensitivity Syndrome	3	+ +
148	Amino Acid Metabolism, Inborn Errors	3	+ +
149	Muscle Spasticity	3	+ +
150	Adrenal Insufficiency	3	+ +
151	Cerebellar Ataxia	3	+ +
152	Kidney Neoplasms	3	+ +
153	Spasms, Infantile	3	+ +
154	Hirschsprung Disease	3	+ +
155	Gonadal Dysgenesis, 46,XX	3	+ +
156	Afibrinogenemia	3	+ +
157	Ichthyosis, X-Linked	3	+ +
158	Hypospadias	3	+ +
159	Amyloidosis, Familial	3	+ +
160	Wiskott-Aldrich Syndrome	3	+ +
161	Wilms Tumor	3	+ +
162	DiGeorge Syndrome	3	+ +
163	Isochromosomes	3	+ +
164	Hypophosphatasia	3	+ +
165	Neoplasms, Second Primary	3	+ +
166	Pain	3	+ +
167	Neurofibromatosis 1	3	+ +
168	Renal Insufficiency	3	+ +
169	Hypertension	3	+ +
170	Hemoglobinopathies	3	+ +
171	Silver-Russell Syndrome	3	+ +
172	Lymphoma, Large B-Cell, Diffuse	3	+ +
173	Parkinsonian Disorders	3	+ +
174	Insulin Resistance	3	+ +
175	Acquired Immunodeficiency Syndrome	3	+ +
176	Noonan Syndrome	3	+ +
177	Adenocarcinoma	3	+ +
178	Metabolic Diseases	3	+ +
179	Fetal Growth Retardation	3	+ +
180	Skin Diseases	3	+ +
181	AIDS-Related Opportunistic Infections	3	+ +
182	Polydactyly	3	+ +
183	Ichthyosis	3	+ +
184	Substance-Related Disorders	3	+ +
185	Cleft Palate	3	+ +
186	Eye Diseases, Hereditary	3	+ +
187	Pigmentation Disorders	3	+ +
188	Cataract	3	+ +
189	Drug Overdose	3	+ +
190	Denys-Drash Syndrome	3	+ +
191	Carcinoma, Squamous Cell	3	+ +
192	Thrombophilia	3	+ +
193	Agenesis of Corpus Callosum	3	+ +
194	Cytomegalovirus Infections	3	+ +
195	Foot Deformities, Congenital	3	+ +
196	Choroideremia	3	+ +
197	Critical Illness	3	+ +
198	Iron Overload	3	+ +
199	Mental Disorders	3	+ +
200	Myoclonus	3	+ +
201	Marfan Syndrome	3	+ +
202	Psychomotor Disorders	3	+ +
203	Depressive Disorder	3	+ +
204	Leukemia, Myelomonocytic, Acute	3	+ +
205	Beckwith-Wiedemann Syndrome	3	+ +
206	Pseudohypoaldosteronism	3	+ +
207	Diabetes Insipidus, Nephrogenic	3	+ +
208	Holoprosencephaly	3	+ +
209	Fibrous Dysplasia, Polyostotic	2	+ +
210	Williams Syndrome	2	+ +
211	Epstein-Barr Virus Infections	2	+ +
212	Neoplasm Recurrence, Local	2	+ +
213	Creutzfeldt-Jakob Syndrome	2	+ +
214	Colorectal Neoplasms, Hereditary Nonpolyposis	2	+ +
215	Hypoglycemia	2	+ +
216	Myotonic Dystrophy	2	+ +
217	Congenital Abnormalities	2	+ +
218	Syndactyly	2	+ +
219	Neoplasm, Residual	2	+ +
220	Microphthalmos	2	+ +
221	Cardiomyopathies	2	+ +
222	Hepatoblastoma	2	+ +
223	Gonadal Dysgenesis	2	+ +
224	Hypercalciuria	2	+ +
225	Color Vision Defects	2	+ +
226	Brain Diseases	2	+ +
227	Lymphoma, Follicular	2	+ +
228	Philadelphia Chromosome	2	+ +
229	Nephritis, Hereditary	2	+ +
230	Hypertriglyceridemia	2	+ +
231	Myasthenic Syndromes, Congenital	2	+ +
232	Granulomatous Disease, Chronic	2	+ +
233	Osteogenesis Imperfecta	2	+ +
234	Lipodystrophy, Congenital Generalized	2	+ +
235	Epidermolysis Bullosa Dystrophica	2	+ +
236	Leukemia, Monocytic, Acute	2	+ +
237	Peripheral Nervous System Diseases	2	+ +
238	Lymphoma, Non-Hodgkin	2	+ +
239	Nephrolithiasis	2	+ +
240	Bacteremia	2	+ +
241	Cardiomyopathy, Hypertrophic	2	+ +
242	Lymphoma, T-Cell	2	+ +
243	Postoperative Complications	2	+ +
244	Tremor	2	+ +
245	Inflammation	2	+ +
246	Huntington Disease	2	+ +
247	Adenovirus Infections, Human	2	+ +
248	Distal Myopathies	2	+ +
249	Adenoma	2	+ +
250	Neurofibromatosis 2	2	+ +
251	Neurotoxicity Syndromes	2	+ +
252	Bacterial Infections	2	+ +
253	Infant, Newborn, Diseases	2	+ +
254	Xanthomatosis, Cerebrotendinous	2	+ +
255	Myopathies, Structural, Congenital	2	+ +
256	Familial Mediterranean Fever	2	+ +
257	Fetal Diseases	2	+ +
258	Dwarfism, Pituitary	2	+ +
259	Mucopolysaccharidosis II	2	+ +
260	Fever	2	+ +
261	Spastic Paraplegia, Hereditary	2	+ +
262	Ataxia Telangiectasia	2	+ +
263	Autoimmune Diseases	2	+ +
264	Xeroderma Pigmentosum	2	+ +
265	Confusion	2	+ +
266	von Hippel-Lindau Disease	2	+ +
267	Prion Diseases	2	+ +
268	Friedreich Ataxia	2	+ +
269	MELAS Syndrome	2	+ +
270	Cross Infection	2	+ +
271	Somatosensory Disorders	2	+ +
272	Polycythemia	2	+ +
273	Anemia	2	+ +
274	Gerstmann-Straussler-Scheinker Disease	2	+ +
275	Akathisia, Drug-Induced	2	+ +
276	Failure to Thrive	2	+ +
277	Liver Failure	2	+ +
278	Psoriasis	2	+ +
279	Acrocephalosyndactylia	2	+ +
280	Roseolovirus Infections	2	+ +
281	Hallucinations	2	+ +
282	Hypobetalipoproteinemias	2	+ +
283	Hereditary Central Nervous System Demyelinating Diseases	2	+ +
284	Spherocytosis, Hereditary	2	+ +
285	Myeloproliferative Disorders	2	+ +
286	Hypotrichosis	2	+ +
287	Connective Tissue Diseases	2	+ +
288	Arthritis, Rheumatoid	2	+ +
289	Cardiomyopathy, Dilated	2	+ +
290	Blindness	2	+ +
291	Epidermolysis Bullosa, Junctional	2	+ +
292	Hyperlipoproteinemia Type I	2	+ +
293	Cell Transformation, Viral	2	+ +
294	Neurodegenerative Diseases	2	+ +
295	Cerebral Palsy	2	+ +
296	Hodgkin Disease	2	+ +
297	Heredodegenerative Disorders, Nervous System	2	+ +
298	Sleep Initiation and Maintenance Disorders	2	+ +
299	Epidermolysis Bullosa Simplex	2	+ +
300	Macrocephaly	2	+ +
301	HIV Seropositivity	2	+ +
302	Nails, Malformed	2	+ +
303	Pregnancy Complications	2	+ +
304	Polyneuropathies	2	+ +
305	Carcinoma	2	+ +
306	Gram-Positive Bacterial Infections	2	+ +
307	Erythema	2	+ +
308	Diabetes Complications	2	+ +
309	Movement Disorders	2	+ +
310	Coloboma	2	+ +
311	Body Weight	2	+ +
312	Leukemia-Lymphoma, Adult T-Cell	2	+ +
313	Hamartoma Syndrome, Multiple	2	+ +
314	Nondisjunction, Genetic	2	+ +
315	Muscular Dystrophy, Emery-Dreifuss	2	+ +
316	Ichthyosiform Erythroderma, Congenital	2	+ +
317	Ornithine Carbamoyltransferase Deficiency Disease	2	+ +
318	Hepatitis B	2	+ +
319	Endocrine System Diseases	2	+ +
320	Acute Kidney Injury	2	+ +
321	Adrenoleukodystrophy	2	+ +
322	Hyperthyroidism	2	+ +
323	Bernard-Soulier Syndrome	2	+ +
324	DNA Virus Infections	2	+ +
325	Porphyrias, Hepatic	2	+ +
326	Werner Syndrome	2	+ +
327	Leukemia, Promyelocytic, Acute	2	+ +
328	Hand Deformities	2	+ +
329	Myopathies, Nemaline	2	+ +
330	Urogenital Abnormalities	2	+ +
331	Chondrodysplasia Punctata	2	+ +
332	Nephrocalcinosis	2	+ +
333	Basal Ganglia Diseases	2	+ +
334	Lipodystrophy	2	+ +
335	Infection	2	+ +
336	Asthma	2	+ +
337	Diffuse Cerebral Sclerosis of Schilder	2	+ +
338	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	2	+ +
339	Achondroplasia	2	+ +
340	Gaucher Disease	2	+ +
341	Hemophilia B	2	+ +
342	Brain Diseases, Metabolic, Inborn	2	+ +
343	Hemorrhage	2	+ +
344	Arrhythmias, Cardiac	2	+ +
345	Lissencephaly	2	+ +
346	Anemia, Sideroblastic	2	+ +
347	Abetalipoproteinemia	2	+ +
348	Retinal Neoplasms	2	+ +
349	Speech Disorders	2	+ +
350	Pneumonia	2	+ +
351	Leukodystrophy, Metachromatic	2	+ +
352	Blepharophimosis	2	+ +
353	46, XX Disorders of Sex Development	2	+ +
354	Tangier Disease	2	+ +
355	Nervous System Malformations	2	+ +
356	Machado-Joseph Disease	2	+ +
357	Acidosis, Lactic	2	+ +
358	Leukopenia	2	+ +
359	Bone Diseases, Developmental	2	+ +
360	Eye Diseases	2	+ +
361	Blast Crisis	2	+ +
362	Lymphoma, AIDS-Related	2	+ +
363	Leukemia, Lymphoid	2	+ +
364	Hyperammonemia	2	+ +
365	Retinal Diseases	2	+ +
366	Arthritis	2	+ +
367	CADASIL	2	+ +
368	Colorectal Neoplasms	2	+ +
369	Staphylococcal Infections	2	+ +
370	Albinism, Ocular	2	+ +
371	Fabry Disease	2	+ +
372	Frontotemporal Dementia	2	+ +
373	Lesch-Nyhan Syndrome	2	+ +
374	Epilepsy, Tonic-Clonic	2	+ +
375	Rubinstein-Taybi Syndrome	2	+ +
376	Infertility, Male	2	+ +
377	Drug-Induced Liver Injury	2	+ +
378	Hyperplasia	2	+ +
379	Plaque, Amyloid	2	+ +
380	Lupus Erythematosus, Systemic	2	+ +
381	Burkitt Lymphoma	2	+ +
382	Iridocyclitis	2	+ +
383	Primary Ovarian Insufficiency	2	+ +
384	Hepatitis C	2	+ +
385	Respiratory Tract Infections	2	+ +
386	Cleidocranial Dysplasia	2	+ +
387	Skin Abnormalities	2	+ +
388	Stroke	2	+ +
389	Leukoencephalopathies	2	+ +
390	Leukemia, Prolymphocytic	2	+ +
391	Azoospermia	2	+ +
392	Migraine with Aura	2	+ +
393	Frontotemporal Lobar Degeneration	2	+ +
394	Progeria	2	+ +
395	Hyperinsulinism	2	+ +
396	Hypoalbuminemia	2	+ +
397	Neoplasm Metastasis	2	+ +
398	Nephrotic Syndrome	2	+ +
399	Uterine Neoplasms	2	+ +
400	Pyruvate Dehydrogenase Complex Deficiency Disease	2	+ +
401	Agraphia	2	+ +
402	MERRF Syndrome	2	+ +
403	Alcoholism	2	+ +
404	Thrombasthenia	2	+ +
405	Liver Diseases	2	+ +
406	Nerve Degeneration	2	+ +
407	Rhabdomyolysis	2	+ +
408	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	2	+ +
409	Neuronal Ceroid-Lipofuscinoses	2	+ +
410	Immune System Diseases	2	+ +
411	Colonic Neoplasms	2	+ +
412	Steroid Metabolism, Inborn Errors	2	+ +
413	Facial Dermatoses	2	+ +
414	Gait Disorders, Neurologic	2	+ +
415	Cockayne Syndrome	2	+ +
416	Radiation Injuries	2	+ +
417	Chorea	2	+ +
418	Iron Metabolism Disorders	2	+ +
419	Athetosis	2	+ +
420	Glycogen Storage Disease Type V	2	+ +
421	Lymphocytosis	1	+ +
422	Lipid Metabolism, Inborn Errors	1	+ +
423	Channelopathies	1	+ +
424	Language Disorders	1	+ +
425	Hypoparathyroidism	1	+ +
426	Paraganglioma	1	+ +
427	Epilepsy, Benign Neonatal	1	+ +
428	Amyloid Neuropathies, Familial	1	+ +
429	Dysthymic Disorder	1	+ +
430	Venous Thrombosis	1	+ +
431	Amyloidosis	1	+ +
432	Renal Insufficiency, Chronic	1	+ +
433	Hyperuricemia	1	+ +
434	Campomelic Dysplasia	1	+ +
435	Dysarthria	1	+ +
436	Hypercholesterolemia	1	+ +
437	Stomach Neoplasms	1	+ +
438	Agranulocytosis	1	+ +
439	Craniofacial Dysostosis	1	+ +
440	Malformations of Cortical Development	1	+ +
441	Hypercalcemia	1	+ +
442	Muscular Atrophy	1	+ +
443	Photosensitivity Disorders	1	+ +
444	Aniridia	1	+ +
445	Fatigue	1	+ +
446	Gilbert Disease	1	+ +
447	Gitelman Syndrome	1	+ +
448	Fanconi Anemia	1	+ +
449	Pancytopenia	1	+ +
450	Leukemia, T-Cell	1	+ +
451	Abdominal Neoplasms	1	+ +
452	Adrenal Gland Neoplasms	1	+ +
453	Pruritus	1	+ +
454	Anophthalmos	1	+ +
455	LEOPARD Syndrome	1	+ +
456	Multiple Sclerosis	1	+ +
457	Puberty, Delayed	1	+ +
458	Thrombosis	1	+ +
459	Puberty, Precocious	1	+ +
460	Psychotic Disorders	1	+ +
461	Hypopigmentation	1	+ +
462	Hyperpigmentation	1	+ +
463	Lung Diseases	1	+ +
464	Weight Gain	1	+ +
465	Neuromuscular Diseases	1	+ +
466	Myotonic Disorders	1	+ +
467	Depressive Disorder, Major	1	+ +
468	Piebaldism	1	+ +
469	Vision Disorders	1	+ +
470	Hepatomegaly	1	+ +
471	delta-Thalassemia	1	+ +
472	Carbohydrate Metabolism, Inborn Errors	1	+ +
473	Seizures, Febrile	1	+ +
474	Ovarian Neoplasms	1	+ +
475	Splenomegaly	1	+ +
476	Psychomotor Agitation	1	+ +
477	Hyperglycemia	1	+ +
478	Eosinophilia	1	+ +
479	Coffin-Lowry Syndrome	1	+ +
480	Pseudoxanthoma Elasticum	1	+ +
481	Central Nervous System Diseases	1	+ +
482	Elliptocytosis, Hereditary	1	+ +
483	Acne Vulgaris	1	+ +
484	Anemia, Hemolytic	1	+ +
485	Migraine Disorders	1	+ +
486	Hyperhomocysteinemia	1	+ +
487	Sepsis	1	+ +
488	Skin Ulcer	1	+ +
489	Tay-Sachs Disease	1	+ +
490	Cystinuria	1	+ +
491	Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	1	+ +
492	Disease	1	+ +
493	Acidosis	1	+ +
494	Glycogen Storage Disease	1	+ +
495	Darier Disease	1	+ +
496	Necrosis	1	+ +
497	Papillomavirus Infections	1	+ +
498	Thyroid Neoplasms	1	+ +
499	Factor VII Deficiency	1	+ +
500	Pneumonia, Bacterial	1	+ +
501	Turner Syndrome	1	+ +
502	Liver Neoplasms	1	+ +
503	Albinism	1	+ +
504	Exocrine Pancreatic Insufficiency	1	+ +
505	Amenorrhea	1	+ +
506	Osteopetrosis	1	+ +
507	Sarcoma, Ewing	1	+ +
508	Leukemia	1	+ +
509	Pemphigus, Benign Familial	1	+ +
510	Attention Deficit Disorder with Hyperactivity	1	+ +
511	Anemia, Aplastic	1	+ +
512	Ectodermal Dysplasia 1, Anhidrotic	1	+ +
513	Macular Degeneration	1	+ +
514	WAGR Syndrome	1	+ +
515	Agnosia	1	+ +
516	Urinary Tract Infections	1	+ +
517	Pseudohypoparathyroidism	1	+ +
518	Paresthesia	1	+ +
519	Chromosome Fragility	1	+ +
520	Hypotension	1	+ +
521	Encephalitis, Viral	1	+ +
522	Corneal Opacity	1	+ +
523	Anemia, Hemolytic, Congenital	1	+ +
524	Alexander Disease	1	+ +
525	Hypertelorism	1	+ +
526	Chromosomal Instability	1	+ +
527	Malabsorption Syndromes	1	+ +
528	Optic Atrophy	1	+ +
529	Pituitary Neoplasms	1	+ +
530	Dysgammaglobulinemia	1	+ +
531	Schizophrenia, Paranoid	1	+ +
532	Lymphoma, T-Cell, Cutaneous	1	+ +
533	Bartter Syndrome	1	+ +
534	Bone Neoplasms	1	+ +
535	Anemia, Hypochromic	1	+ +
536	Dystonia Musculorum Deformans	1	+ +
537	Drug-Related Side Effects and Adverse Reactions	1	+ +
538	Hypoventilation	1	+ +
539	Dysostoses	1	+ +
540	Diarrhea	1	+ +
541	Status Epilepticus	1	+ +
542	Sarcoma, Synovial	1	+ +
543	Upper Extremity Deformities, Congenital	1	+ +
544	Dyskeratosis Congenita	1	+ +
545	Congenital Disorders of Glycosylation	1	+ +
546	Arthrogryposis	1	+ +
547	Pheochromocytoma	1	+ +
548	Jaundice, Chronic Idiopathic	1	+ +
549	Lymphopenia	1	+ +
550	Ichthyosis, Lamellar	1	+ +
551	Optic Atrophies, Hereditary	1	+ +
552	Polyendocrinopathies, Autoimmune	1	+ +
553	Bradycardia	1	+ +
554	Atrial Fibrillation	1	+ +
555	Myasthenia Gravis	1	+ +
556	Osteosclerosis	1	+ +
557	Hyperparathyroidism	1	+ +
558	Hypohidrosis	1	+ +
559	Pancreatic Neoplasms	1	+ +
560	Gastrointestinal Diseases	1	+ +
561	Hypertrichosis	1	+ +
562	Gait Ataxia	1	+ +
563	Neovascularization, Pathologic	1	+ +
564	Calcinosis	1	+ +
565	Leg Ulcer	1	+ +
566	Hydrocephalus	1	+ +
567	Weight Loss	1	+ +
568	Graves Disease	1	+ +
569	Uveitis, Posterior	1	+ +
570	Obsessive-Compulsive Disorder	1	+ +
571	Reflex, Abnormal	1	+ +
572	Colitis, Ulcerative	1	+ +
573	Influenza, Human	1	+ +
574	Hereditary Autoinflammatory Diseases	1	+ +
575	Tyrosinemias	1	+ +
576	Gonadoblastoma	1	+ +
577	Multiple Organ Failure	1	+ +
578	Parkinson Disease, Secondary	1	+ +
579	Glossitis	1	+ +
580	Pain, Intractable	1	+ +
581	Candidiasis	1	+ +
582	Coma	1	+ +
583	Head and Neck Neoplasms	1	+ +
584	Protein C Deficiency	1	+ +
585	Citrullinemia	1	+ +
586	Synostosis	1	+ +
587	Remission, Spontaneous	1	+ +
588	Death, Sudden, Cardiac	1	+ +
589	Leukemia, Myeloid	1	+ +
590	Vomiting	1	+ +
591	Pregnancy Complications, Infectious	1	+ +
592	Hepatitis D, Chronic	1	+ +
593	Dementia, Multi-Infarct	1	+ +
594	Blepharoptosis	1	+ +
595	Cutis Laxa	1	+ +
596	Lipodystrophy, Familial Partial	1	+ +
597	Angioedemas, Hereditary	1	+ +
598	Cafe-au-Lait Spots	1	+ +
599	Hypergammaglobulinemia	1	+ +
600	Paraparesis, Spastic	1	+ +
601	Carcinoma, Renal Cell	1	+ +
602	Abnormalities, Drug-Induced	1	+ +
603	Pseudomonas Infections	1	+ +
604	Incontinentia Pigmenti	1	+ +
605	Birth Weight	1	+ +
606	Optic Atrophy, Autosomal Dominant	1	+ +
607	Gynecomastia	1	+ +
608	Esophageal Achalasia	1	+ +
609	Lecithin Acyltransferase Deficiency	1	+ +
610	Gastrointestinal Neoplasms	1	+ +
611	Polyomavirus Infections	1	+ +
612	Cryptorchidism	1	+ +
613	Basal Cell Nevus Syndrome	1	+ +
614	Jacobsen Distal 11q Deletion Syndrome	1	+ +
615	Brachydactyly	1	+ +
616	Fetal Macrosomia	1	+ +
617	Epilepsy, Generalized	1	+ +
618	Proteinuria	1	+ +
619	Protoporphyria, Erythropoietic	1	+ +
620	AIDS Dementia Complex	1	+ +
621	Hypereosinophilic Syndrome	1	+ +
622	Histiocytic Sarcoma	1	+ +
623	Mucolipidoses	1	+ +
624	Hypocalcemia	1	+ +
625	Soft Tissue Neoplasms	1	+ +
626	Pycnodysostosis	1	+ +
627	Lymphoma, T-Cell, Peripheral	1	+ +
628	Neoplasms, Radiation-Induced	1	+ +
629	Respiratory Distress Syndrome, Newborn	1	+ +
630	Polyuria	1	+ +
631	Sandhoff Disease	1	+ +
632	Sleep Apnea, Central	1	+ +
633	Acinetobacter Infections	1	+ +
634	Unconsciousness	1	+ +
635	Dyskinesia, Drug-Induced	1	+ +
636	Cryopyrin-Associated Periodic Syndromes	1	+ +
637	Leukemia, Erythroblastic, Acute	1	+ +
638	Motor Neuron Disease	1	+ +
639	Dermatomyositis	1	+ +
640	Granuloma	1	+ +
641	Canavan Disease	1	+ +
642	Pneumonia, Pneumocystis	1	+ +
643	Asymptomatic Diseases	1	+ +
644	Shock, Septic	1	+ +
645	Rare Diseases	1	+ +
646	Romano-Ward Syndrome	1	+ +
647	Hyperostosis	1	+ +
648	Dermatitis, Atopic	1	+ +
649	Walker-Warburg Syndrome	1	+ +
650	Tauopathies	1	+ +
651	Hypokalemic Periodic Paralysis	1	+ +
652	Lymphohistiocytosis, Hemophagocytic	1	+ +
653	Malignant Hyperthermia	1	+ +
654	Pain Insensitivity, Congenital	1	+ +
655	Crigler-Najjar Syndrome	1	+ +
656	Wolfram Syndrome	1	+ +
657	Hypopituitarism	1	+ +
658	Edema	1	+ +
659	Drug Eruptions	1	+ +
660	Epilepsies, Partial	1	+ +
661	Bronchitis	1	+ +
662	Premature Birth	1	+ +
663	Dermatitis, Occupational	1	+ +
664	Donohue Syndrome	1	+ +
665	Dog Diseases	1	+ +
666	Contracture	1	+ +
667	CHARGE Syndrome	1	+ +
668	Anodontia	1	+ +
669	Factor XI Deficiency	1	+ +
670	Glomerulosclerosis, Focal Segmental	1	+ +
671	Gangliosidosis, GM1	1	+ +
672	Anus, Imperforate	1	+ +
673	Optic Atrophy, Hereditary, Leber	1	+ +
674	Pulmonary Valve Stenosis	1	+ +
675	Aspergillosis	1	+ +
676	Liver Failure, Acute	1	+ +
677	Thromboembolism	1	+ +
678	Pulmonary Fibrosis	1	+ +
679	Anemia, Refractory	1	+ +
680	Homocystinuria	1	+ +
681	Gastrointestinal Stromal Tumors	1	+ +
682	Birt-Hogg-Dube Syndrome	1	+ +
683	Drug Hypersensitivity	1	+ +
684	Zoonoses	1	+ +
685	Joint Diseases	1	+ +
686	Poisoning	1	+ +
687	Demyelinating Diseases	1	+ +
688	Cerebellar Neoplasms	1	+ +
689	Classical Lissencephalies and Subcortical Band Heterotopias	1	+ +
690	Hermanski-Pudlak Syndrome	1	+ +
691	Chediak-Higashi Syndrome	1	+ +
692	Obesity, Morbid	1	+ +
693	Fructose Intolerance	1	+ +
694	Rectal Neoplasms	1	+ +
695	Mycosis Fungoides	1	+ +
696	Pulmonary Embolism	1	+ +
697	Loeys-Dietz Syndrome	1	+ +
698	Brain Injuries	1	+ +
699	Autonomic Nervous System Diseases	1	+ +
700	Focal Dermal Hypoplasia	1	+ +
701	Multiple Myeloma	1	+ +
702	Acanthosis Nigricans	1	+ +
703	Neurofibromatoses	1	+ +
704	Memory Disorders	1	+ +
705	Porphyria, Hepatoerythropoietic	1	+ +
706	Porphyria, Variegate	1	+ +
707	Child Behavior Disorders	1	+ +
708	Lymphoma, Large-Cell, Immunoblastic	1	+ +
709	Community-Acquired Infections	1	+ +
710	Muscular Dystrophy, Oculopharyngeal	1	+ +
711	Mandibulofacial Dysostosis	1	+ +
712	Paraganglioma, Extra-Adrenal	1	+ +
713	Hematologic Diseases	1	+ +
714	Mucopolysaccharidosis IV	1	+ +
715	Porphyria, Acute Intermittent	1	+ +
716	Osteoporosis	1	+ +
717	Dental Enamel Hypoplasia	1	+ +
718	Prolactinoma	1	+ +
719	Periventricular Nodular Heterotopia	1	+ +
720	von Willebrand Diseases	1	+ +
721	Lymphedema	1	+ +
722	Amelogenesis Imperfecta	1	+ +
723	Anemia, Megaloblastic	1	+ +
724	Thrombocytosis	1	+ +
725	Eye Infections, Viral	1	+ +
726	Insulin Coma	1	+ +
727	Fibrosis	1	+ +
728	DNA Repair-Deficiency Disorders	1	+ +
729	Epidermolysis Bullosa	1	+ +
730	Cystic Fibrosis	1	+ +
731	Lymphatic Metastasis	1	+ +
732	Sarcoidosis	1	+ +
733	Factor XIII Deficiency	1	+ +
734	Anemia, Diamond-Blackfan	1	+ +
735	Sexual Dysfunctions, Psychological	1	+ +
736	Sarcoma	1	+ +
737	Smith-Lemli-Opitz Syndrome	1	+ +
738	Nevus	1	+ +
739	Hemolytic-Uremic Syndrome	1	+ +
740	Lymphatic Diseases	1	+ +
741	Anaphylaxis	1	+ +
742	Carcinoma, Medullary	1	+ +
743	Factor XII Deficiency	1	+ +
744	Bulbar Palsy, Progressive	1	+ +
745	Osteoarthritis	1	+ +
746	Polycystic Kidney, Autosomal Dominant	1	+ +
747	Andersen Syndrome	1	+ +
748	Intestinal Diseases	1	+ +
749	Scoliosis	1	+ +
750	Klebsiella Infections	1	+ +
751	Gram-Negative Bacterial Infections	1	+ +
752	Cushing Syndrome	1	+ +
753	Leukemia, Myelomonocytic, Chronic	1	+ +
754	Leukemia, Prolymphocytic, T-Cell	1	+ +
755	Carcinoma, Non-Small-Cell Lung	1	+ +
756	Neoplasm Invasiveness	1	+ +
757	Splenic Neoplasms	1	+ +
758	Immune Reconstitution Inflammatory Syndrome	1	+ +
759	Central Nervous System Neoplasms	1	+ +
760	Myopathy, Central Core	1	+ +
761	Dermatitis, Exfoliative	1	+ +
762	Kidney Diseases, Cystic	1	+ +
763	Nail-Patella Syndrome	1	+ +
764	Hemangioblastoma	1	+ +
765	Hyperlipoproteinemia Type IV	1	+ +
766	Hypotension, Orthostatic	1	+ +
767	Bruxism	1	+ +
768	Hepatitis C, Chronic	1	+ +
769	Lower Extremity Deformities, Congenital	1	+ +
770	Pregnancy in Diabetics	1	+ +
771	Hyperlipidemias	1	+ +
772	Pancreatitis, Chronic	1	+ +
773	Sarcoma, Kaposi	1	+ +
774	Hypophosphatemia, Familial	1	+ +
775	Metabolic Syndrome X	1	+ +
776	Spinal Cord Injuries	1	+ +
777	Delirium	1	+ +
778	Deficiency Diseases	1	+ +
779	Hypertrophy	1	+ +
780	Ocular Motility Disorders	1	+ +
781	Facial Neoplasms	1	+ +
782	Cherubism	1	+ +
783	Pleural Effusion, Malignant	1	+ +
784	alpha 1-Antitrypsin Deficiency	1	+ +
785	Coproporphyria, Hereditary	1	+ +
786	Keratosis	1	+ +
787	IgG Deficiency	1	+ +
788	Bone Diseases	1	+ +
789	Virus Diseases	1	+ +
790	Graft vs Host Disease	1	+ +
791	Respiration Disorders	1	+ +
792	Skin Diseases, Bacterial	1	+ +
793	Lipoid Proteinosis of Urbach and Wiethe	1	+ +
794	Hypertension, Pulmonary	1	+ +
795	Mycobacterium Infections	1	+ +
796	Dystonic Disorders	1	+ +
797	Intestinal Neoplasms	1	+ +
798	Hypoaldosteronism	1	+ +
799	Diabetes Insipidus, Neurogenic	1	+ +
800	Osteomyelitis	1	+ +
801	Multiple Endocrine Neoplasia	1	+ +
802	Disseminated Intravascular Coagulation	1	+ +
803	Carney Complex	1	+ +
804	Malaria	1	+ +
805	Trichothiodystrophy Syndromes	1	+ +
806	Purine-Pyrimidine Metabolism, Inborn Errors	1	+ +
807	Panic Disorder	1	+ +
808	Colonic Polyps	1	+ +
809	Vestibular Diseases	1	+ +
810	Leukemia, Biphenotypic, Acute	1	+ +
811	Rothmund-Thomson Syndrome	1	+ +
812	Xanthomatosis	1	+ +
813	Hyperbilirubinemia	1	+ +
814	Enterobacteriaceae Infections	1	+ +
815	Diabetic Nephropathies	1	+ +
816	Cat Diseases	1	+ +
817	Pancreatitis	1	+ +
818	Dermatitis	1	+ +
819	Scleroderma, Systemic	1	+ +
820	Common Variable Immunodeficiency	1	+ +
821	Headache	1	+ +
822	Adrenocortical Carcinoma	1	+ +
823	Anemia, Sickle Cell	1	+ +
824	Blood Coagulation Disorders, Inherited	1	+ +
825	Intestinal Polyposis	1	+ +
826	Methemoglobinemia	1	+ +
827	Fetal Death	1	+ +
828	Hearing Disorders	1	+ +
829	Foot Deformities	1	+ +
830	Glucose Intolerance	1	+ +
831	Tachycardia	1	+ +
832	Mycoses	1	+ +
833	Epilepsy, Absence	1	+ +
834	Hypolipoproteinemias	1	+ +
835	Hemangioma, Cavernous, Central Nervous System	1	+ +
836	Papillon-Lefevre Disease	1	+ +
837	Factor X Deficiency	1	+ +
838	Body Dysmorphic Disorders	1	+ +
839	Medulloblastoma	1	+ +
840	Alagille Syndrome	1	+ +
841	Hyperkalemia	1	+ +
842	Oral Ulcer	1	+ +
843	Obstetric Labor, Premature	1	+ +
844	Gastrointestinal Hemorrhage	1	+ +
845	Sialorrhea	1	+ +
846	Galactosemias	1	+ +
847	Skin Diseases, Papulosquamous	1	+ +
848	Myoglobinuria	1	+ +
849	Hypoalphalipoproteinemias	1	+ +
850	Stevens-Johnson Syndrome	1	+ +
851	Sensation Disorders	1	+ +
852	Kearns-Sayre Syndrome	1	+ +
853	Zellweger Syndrome	1	+ +
854	Bronchopneumonia	1	+ +
855	Astrocytoma	1	+ +
856	Myositis, Inclusion Body	1	+ +
857	Porphyria, Erythropoietic	1	+ +
858	Arachnodactyly	1	+ +
859	Abortion, Spontaneous	1	+ +
860	Hamartoma	1	+ +
861	Conjunctival Diseases	1	+ +
862	Deaf-Blind Disorders	1	+ +
863	Fanconi Syndrome	1	+ +
864	Hypokalemia	1	+ +
865	Pyoderma	1	+ +
866	Hepatolenticular Degeneration	1	+ +
867	Glaucoma, Open-Angle	1	+ +
868	Lymphoma	1	+ +
869	Glucosephosphate Dehydrogenase Deficiency	1	+ +
870	Hyperphagia	1	+ +
871	Vasculitis	1	+ +
872	Ophthalmoplegia	1	+ +
873	Escherichia coli Infections	1	+ +
874	Death, Sudden	1	+ +
875	Cardiomegaly	1	+ +
876	Lewy Body Disease	1	+ +
877	Eye Infections	1	+ +
878	Gliosis	1	+ +
879	Glycogen Storage Disease Type II	1	+ +
880	Hematologic Neoplasms	1	+ +
881	Overweight	1	+ +
882	Hyperprolactinemia	1	+ +
883	Blood Platelet Disorders	1	+ +
884	Cattle Diseases	1	+ +
885	Steatorrhea	1	+ +
886	Corneal Dystrophy, Juvenile Epithelial of Meesmann	1	+ +
887	Cholestasis, Intrahepatic	1	+ +
888	Osteosarcoma	1	+ +
889	Urea Cycle Disorders, Inborn	1	+ +
890	Glioma	1	+ +
891	Polyps	1	+ +
892	Parathyroid Neoplasms	1	+ +
893	Carcinoma, Small Cell	1	+ +
894	Shock	1	+ +
895	Rickets	1	+ +
896	46, XX Testicular Disorders of Sex Development	1	+ +
897	Hand Dermatoses	1	+ +
898	Glaucoma	1	+ +
899	Thoracic Neoplasms	1	+ +
900	Mood Disorders	1	+ +
901	Urinary Calculi	1	+ +
902	Photophobia	1	+ +
903	Brain Diseases, Metabolic	1	+ +
904	Testicular Neoplasms	1	+ +
905	Protein S Deficiency	1	+ +
906	Dandy-Walker Syndrome	1	+ +
907	Lipid Metabolism Disorders	1	+ +
908	Rotavirus Infections	1	+ +
909	Blood Coagulation Disorders	1	+ +

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