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DiseasesRatingBibliogr.Expand
1Muscular Dystrophy, Duchenne100+ 
2Muscular Dystrophies50+ 
3Genetic Diseases, X-Linked48+ 
4Syndrome35+ 
5Muscular Atrophy, Spinal34+ 
6Tay-Sachs Disease33+ 
7Adrenal Hyperplasia, Congenital32+ 
8Androgen-Insensitivity Syndrome30+ 
9Disorders of Sex Development30+ 
1046, XY Disorders of Sex Development29+ 
11Marfan Syndrome29+ 
12Metabolism, Inborn Errors29+ 
13Pseudohypoparathyroidism28+ 
14Rett Syndrome28+ 
15Gastrointestinal Stromal Tumors26+ 
16Hyperlipoproteinemia Type II25+ 
17CADASIL25+ 
18Epidermolysis Bullosa Dystrophica25+ 
19Congenital Hypothyroidism25+ 
20Osteochondrodysplasias24+ 
21Hyperlipoproteinemia Type I24+ 
22Factor XIII Deficiency24+ 
23Mental Retardation, X-Linked24+ 
24Amyotrophic Lateral Sclerosis24+ 
25Chromosome Breakage24+ 
26Kallmann Syndrome23+ 
27Translocation, Genetic23+ 
28Thyroid Hormone Resistance Syndrome23+ 
29Cystic Fibrosis22+ 
30Diffuse Cerebral Sclerosis of Schilder22+ 
31Lesch-Nyhan Syndrome22+ 
32Multiple Endocrine Neoplasia Type 2a22+ 
33Osteogenesis Imperfecta21+ 
34Elliptocytosis, Hereditary21+ 
35Carcinoma, Medullary21+ 
36Xanthomatosis, Cerebrotendinous21+ 
37Adenomatous Polyposis Coli21+ 
38Spinal Muscular Atrophies of Childhood20+ 
39Factor XI Deficiency20+ 
40Granulomatous Disease, Chronic20+ 
41Laron Syndrome19+ 
42Disease Progression19+ 
43Retinitis Pigmentosa19+ 
44Familial Hypophosphatemic Rickets19+ 
45Nephritis, Hereditary19+ 
46Multiple Endocrine Neoplasia Type 119+ 
47Hypoalbuminemia18+ 
48Microsatellite Instability17+ 
49Nystagmus, Congenital17+ 
50Chromosome Deletion17+ 
51Ornithine Carbamoyltransferase Deficiency Disease17+ 
52Cholesterol Ester Storage Disease17+ 
53Neoplastic Syndromes, Hereditary17+ 
54Parkinsonian Disorders16+ 
55Severe Combined Immunodeficiency16+ 
56Lipoid Proteinosis of Urbach and Wiethe16+ 
57Hemophilia A16+ 
58Goiter, Endemic16+ 
59Ichthyosiform Erythroderma, Congenital16+ 
60Fabry Disease15+ 
61beta-Thalassemia15+ 
62Mucopolysaccharidosis II15+ 
63Intellectual Disability15+ 
64Goiter15+ 
65Hypogonadism15+ 
66alpha-Thalassemia15+ 
67Muscular Diseases15+ 
68Diseases in Twins15+ 
69Leukodystrophy, Metachromatic15+ 
70Alzheimer Disease15+ 
71Growth Disorders15+ 
72Hypobetalipoproteinemias15+ 
73Myopathies, Structural, Congenital14+ 
74Fibrous Dysplasia, Polyostotic14+ 
75Abnormalities, Multiple14+ 
76Hypercalciuria14+ 
77Pycnodysostosis14+ 
78Acrocephalosyndactylia14+ 
79Werner Syndrome14+ 
80Facies14+ 
81Gaucher Disease14+ 
82Neurofibromatosis 114+ 
83Hemophilia B14+ 
84Colorectal Neoplasms, Hereditary Nonpolyposis14+ 
85Glycogen Storage Disease Type IIb14+ 
86Skin Diseases, Genetic14+ 
87Ichthyosis, X-Linked14+ 
88Distal Myopathies14+ 
89Li-Fraumeni Syndrome14+ 
90Lipodystrophy14+ 
91Hirschsprung Disease14+ 
92Oculocerebrorenal Syndrome13+ 
93Fucosidosis13+ 
94Adrenoleukodystrophy13+ 
95Iron Overload13+ 
96Puberty, Delayed13+ 
97Albinism, Oculocutaneous13+ 
98Dementia13+ 
99Aniridia13+ 
100Amino Acid Metabolism, Inborn Errors13+ 
101Factor VII Deficiency13+ 
102Polycythemia13+ 
103Factor V Deficiency13+ 
104Glycogen Storage Disease Type V13+ 
105Menkes Kinky Hair Syndrome13+ 
106Pelizaeus-Merzbacher Disease12+ 
107Lipodystrophy, Congenital Generalized12+ 
108Carcinoma, Non-Small-Cell Lung12+ 
109X-Linked Combined Immunodeficiency Diseases12+ 
110von Willebrand Diseases12+ 
111Muscular Dystrophies, Limb-Girdle12+ 
112Glycogen Storage Disease Type VII12+ 
113Hyperuricemia12+ 
114Dementia, Multi-Infarct12+ 
115Sexual Infantilism12+ 
116Pseudohypoaldosteronism12+ 
117Netherton Syndrome12+ 
118Hypophosphatemia, Familial12+ 
119Lysosomal Storage Diseases12+ 
120Hereditary Sensory and Motor Neuropathy12+ 
121Cardiomyopathy, Dilated11+ 
122Pyruvate Dehydrogenase Complex Deficiency Disease11+ 
123Glycogen Storage Disease Type III11+ 
124Birt-Hogg-Dube Syndrome11+ 
125Spherocytosis, Hereditary11+ 
126Hypothyroidism11+ 
127Wiskott-Aldrich Syndrome11+ 
128Ataxia11+ 
129Dystonia11+ 
130Hypercholesterolemia11+ 
131Crigler-Najjar Syndrome11+ 
132Leukemia, Myelogenous, Chronic, BCR-ABL Positive11+ 
133Myasthenic Syndromes, Congenital11+ 
134Gastrointestinal Neoplasms11+ 
135Anemia, Sideroblastic11+ 
136Jaundice, Chronic Idiopathic11+ 
137Porphyria, Acute Intermittent11+ 
138Charcot-Marie-Tooth Disease11+ 
139Lecithin Acyltransferase Deficiency11+ 
140Xeroderma Pigmentosum11+ 
141Protein C Deficiency11+ 
142Fructose Intolerance11+ 
143Progeria11+ 
144Nephrosis11+ 
145Neuroacanthocytosis11+ 
146Craniosynostoses11+ 
147Retinal Degeneration11+ 
148Disease11+ 
149Muscle Cramp10+ 
150Glucosephosphate Dehydrogenase Deficiency10+ 
151Noonan Syndrome10+ 
152Muscle Weakness10+ 
153Amenorrhea10+ 
154Myopathies, Nemaline10+ 
155Thyroid Neoplasms10+ 
156Amyloidosis, Familial10+ 
157Epidermolysis Bullosa, Junctional10+ 
158Amelogenesis Imperfecta10+ 
159Hypoalphalipoproteinemias10+ 
160Gangliosidoses, GM210+ 
161Eye Abnormalities10+ 
162Eye Diseases, Hereditary10+ 
163Choroideremia10+ 
164Polyendocrinopathies, Autoimmune10+ 
165Hearing Loss, Sensorineural10+ 
166Hypospadias10+ 
167Lung Neoplasms10+ 
168Hyperlipoproteinemias10+ 
169Hypophosphatasia10+ 
170Epidermolysis Bullosa Simplex10+ 
171Hair Diseases10+ 
172Lipid Metabolism, Inborn Errors10+ 
173Spastic Paraplegia, Hereditary10+ 
174Phenylketonurias10+ 
175Ectodermal Dysplasia10+ 
176LEOPARD Syndrome10+ 
177Hypoparathyroidism10+ 
178Glycogen Storage Disease Type II9+ 
179Immunologic Deficiency Syndromes9+ 
180Pheochromocytoma9+ 
181Coagulation Protein Disorders9+ 
182Hypoprothrombinemias9+ 
183Kidney Diseases9+ 
184Porphyria, Hepatoerythropoietic9+ 
185Diabetes Mellitus, Type 29+ 
186Deficiency Diseases9+ 
187Hypoaldosteronism9+ 
188Nervous System Diseases9+ 
189Familial Mediterranean Fever9+ 
190Wolfram Syndrome9+ 
191Failure to Thrive9+ 
192Chromosome Aberrations9+ 
193Cardiomyopathies9+ 
194Dwarfism, Pituitary9+ 
195Plaque, Amyloid9+ 
196Craniofacial Abnormalities9+ 
197Gonadal Dysgenesis, 46,XY9+ 
198Factor X Deficiency8+ 
199Frontotemporal Dementia8+ 
200Antithrombin III Deficiency8+ 
201Chromosome Disorders8+ 
202Anemia, Hemolytic, Congenital Nonspherocytic8+ 
203Agammaglobulinemia8+ 
204Aspartylglucosaminuria8+ 
205Endocrine System Diseases8+ 
206Mitochondrial Diseases8+ 
207Neoplasms, Multiple Primary8+ 
208Cardiomyopathy, Hypertrophic, Familial8+ 
209Renal Tubular Transport, Inborn Errors8+ 
210Sandhoff Disease8+ 
211Purine-Pyrimidine Metabolism, Inborn Errors8+ 
212Dyslipidemias8+ 
213Epidermolysis Bullosa8+ 
214Adrenal Insufficiency8+ 
215Thrombocytopenia, Neonatal Alloimmune8+ 
216Thalassemia8+ 
217Bartter Syndrome8+ 
218Chromosome Fragility8+ 
219Hemochromatosis8+ 
220Gait Disorders, Neurologic8+ 
221Epilepsy8+ 
222Steroid Metabolism, Inborn Errors8+ 
223Camurati-Engelmann Syndrome8+ 
224Gitelman Syndrome8+ 
225Colorectal Neoplasms8+ 
226Hematologic Diseases8+ 
227Dermatofibrosarcoma8+ 
228Cerebellar Ataxia8+ 
229Glycosuria8+ 
230Recurrence8+ 
231Retinoschisis8+ 
232Hearing Loss8+ 
233Diabetes Insipidus, Nephrogenic8+ 
234Migraine with Aura8+ 
235Coproporphyria, Hereditary8+ 
236Epilepsy, Benign Neonatal8+ 
237Aging, Premature8+ 
238Leukemia, B-Cell8+ 
239Urogenital Abnormalities7+ 
240Adenocarcinoma7+ 
241Leukemia, Myeloid, Chronic-Phase7+ 
242Dystonic Disorders7+ 
243Adrenal Gland Neoplasms7+ 
244Rubinstein-Taybi Syndrome7+ 
245Hermanski-Pudlak Syndrome7+ 
246Lower Extremity Deformities, Congenital7+ 
247Parkinson Disease7+ 
248Nephrocalcinosis7+ 
249Abetalipoproteinemia7+ 
250Cell Transformation, Viral7+ 
251Polydactyly7+ 
252Chromosome Inversion7+ 
253Precursor Cell Lymphoblastic Leukemia-Lymphoma7+ 
254Leigh Disease7+ 
255Limb Deformities, Congenital7+ 
256Pemphigus, Benign Familial7+ 
257Porphyrias, Hepatic7+ 
258Gangliosidosis, GM17+ 
259Branchio-Oto-Renal Syndrome7+ 
260Developmental Disabilities7+ 
261Muscular Disorders, Atrophic7+ 
262Cardiomyopathy, Hypertrophic7+ 
263Spinocerebellar Degenerations7+ 
264Myopathy, Central Core7+ 
265Spinocerebellar Ataxias7+ 
266Ataxia Telangiectasia7+ 
267Giant Axonal Neuropathy7+ 
268Hypertriglyceridemia7+ 
269Myotonia Congenita7+ 
270Leukemia, Myeloid, Acute7+ 
271Carbohydrate Metabolism, Inborn Errors7+ 
272Azoospermia7+ 
273Hajdu-Cheney Syndrome7+ 
274Atrophy7+ 
275Achondroplasia7+ 
276Urinary Calculi7+ 
277Diabetes Insipidus, Neurogenic7+ 
278Factor XII Deficiency7+ 
279Peutz-Jeghers Syndrome7+ 
280Contracture7+ 
281Syndactyly7+ 
282Dwarfism7+ 
283Multiple Endocrine Neoplasia Type 2b7+ 
284Paraparesis, Spastic7+ 
285Amyloidosis7+ 
286Angioedemas, Hereditary7+ 
287Anemia, Hemolytic7+ 
288Hereditary Sensory and Autonomic Neuropathies7+ 
289Hand Deformities, Congenital7+ 
290Hyperglycinemia, Nonketotic7+ 
291Cafe-au-Lait Spots6+ 
292Mineralocorticoid Excess Syndrome, Apparent6+ 
293Hepatoblastoma6+ 
294Ichthyosis, Lamellar6+ 
295Dihydropyrimidine Dehydrogenase Deficiency6+ 
296Gonadal Dysgenesis6+ 
297Multiple Acyl Coenzyme A Dehydrogenase Deficiency6+ 
298Optic Atrophy6+ 
299Deafness6+ 
300von Hippel-Lindau Disease6+ 
301Immune System Diseases6+ 
302Adenoma6+ 
303Musculoskeletal Abnormalities6+ 
304Blood Protein Disorders6+ 
305Amyloid Neuropathies6+ 
306Mandibulofacial Dysostosis6+ 
307Alopecia6+ 
308Keratoderma, Palmoplantar6+ 
309Hypertelorism6+ 
310Barth Syndrome6+ 
311Cataract6+ 
312Myoglobinuria6+ 
313Hyperparathyroidism6+ 
314Breast Neoplasms6+ 
315Retinal Neoplasms6+ 
316Dyskeratosis Congenita6+ 
317Erythromelalgia6+ 
318Mucolipidoses6+ 
319Anemia, Hemolytic, Congenital6+ 
320Leukemia, Mast-Cell6+ 
321Hereditary Central Nervous System Demyelinating Diseases6+ 
322Muscle Hypotonia6+ 
323Fetal Macrosomia6+ 
324Congenital Disorders of Glycosylation6+ 
325Prurigo6+ 
326Angelman Syndrome6+ 
327Anemia, Megaloblastic6+ 
328Skin Neoplasms6+ 
329Supranuclear Palsy, Progressive6+ 
330Waardenburg Syndrome6+ 
331alpha 1-Antitrypsin Deficiency6+ 
332Leukoencephalopathies6+ 
333Cleft Palate6+ 
334Malabsorption Syndromes6+ 
335Sarcoma, Clear Cell6+ 
336Abnormal Karyotype6+ 
337von Willebrand Disease, Type 26+ 
338Stomach Neoplasms6+ 
339Anemia6+ 
340Pigmentation Disorders6+ 
341Disease Models, Animal6+ 
342Microphthalmos6+ 
343Puberty, Precocious6+ 
344Paraganglioma6+ 
345Cryopyrin-Associated Periodic Syndromes6+ 
346Incontinentia Pigmenti6+ 
347Gynecomastia6+ 
348Fragile X Syndrome6+ 
349Metabolic Diseases6+ 
350Corneal Opacity5+ 
351Hereditary Angioedema Types I and II5+ 
352Hyperparathyroidism, Primary5+ 
353Diabetes Mellitus5+ 
354Erythroblastosis, Fetal5+ 
355Muscular Atrophy5+ 
356Methemoglobinemia5+ 
357Ectopia Lentis5+ 
358Gilbert Disease5+ 
359Connective Tissue Diseases5+ 
360Cleft Lip5+ 
361Color Vision Defects5+ 
362Long QT Syndrome5+ 
363Leukocyte-Adhesion Deficiency Syndrome5+ 
364Nasal Polyps5+ 
365Mitochondrial Myopathies5+ 
366Rhabdomyolysis5+ 
367Neuronal Ceroid-Lipofuscinoses5+ 
368Pancreatitis, Chronic5+ 
369Microcephaly5+ 
370Rectal Neoplasms5+ 
371Carney Complex5+ 
372Myotonic Disorders5+ 
373Night Blindness5+ 
374Fetal Diseases5+ 
375Esophageal Achalasia5+ 
376Ectodermal Dysplasia 1, Anhidrotic5+ 
37746, XX Disorders of Sex Development5+ 
378Muscular Dystrophy, Emery-Dreifuss5+ 
379Musculoskeletal Pain5+ 
380Carcinoma5+ 
381Autistic Disorder5+ 
382Hyperbilirubinemia5+ 
383Spasms, Infantile5+ 
384Chronic Disease5+ 
385Blood Coagulation Disorders5+ 
386Retinoblastoma5+ 
387Darier Disease5+ 
388Renal Insufficiency5+ 
389Intestinal Polyposis5+ 
390Sarcoma, Ewing5+ 
391Frontotemporal Lobar Degeneration5+ 
392Pseudoxanthoma Elasticum5+ 
393Bone Diseases, Developmental5+ 
394Iron Metabolism Disorders5+ 
395Neurofibromatosis 25+ 
396Glycogen Storage Disease5+ 
397Peripheral Nervous System Diseases5+ 
398Citrullinemia5+ 
399Orofaciodigital Syndromes5+ 
400Myeloproliferative Disorders5+ 
401Porphyria, Erythropoietic5+ 
402Neoplasms, Second Primary5+ 
403Uniparental Disomy5+ 
404Skin Abnormalities5+ 
405Adrenal Cortex Diseases5+ 
406Hypertension5+ 
407Leukemia, Myelomonocytic, Acute5+ 
408Myotonia5+ 
409Acidosis5+ 
410Neuromuscular Diseases5+ 
411Hyperostosis5+ 
412Conjunctivitis5+ 
413Pick Disease of the Brain5+ 
414Hepatomegaly5+ 
415Carcinoma, Giant Cell5+ 
416Osteoporosis5+ 
417Neoplasms, Complex and Mixed5+ 
418Leukemia, Monocytic, Acute5+ 
419Hypolipoproteinemias5+ 
420Lipodystrophy, Familial Partial5+ 
421Coloboma5+ 
422Holoprosencephaly5+ 
423Glucose Intolerance5+ 
424Hemorrhage5+ 
425Brain Neoplasms5+ 
426Heavy Chain Disease5+ 
427Fatigue5+ 
428Cleidocranial Dysplasia5+ 
429Hyperphosphatemia5+ 
430Hyperglycemia5+ 
431Albinism, Ocular5+ 
432Papillon-Lefevre Disease5+ 
433Seizures5+ 
434Small Cell Lung Carcinoma5+ 
435Osteoarthritis4+ 
436Abdominal Neoplasms4+ 
437Liposarcoma, Myxoid4+ 
438Leukemia, Prolymphocytic4+ 
439Gout4+ 
440Sex Chromosome Aberrations4+ 
441Carcinoma, Small Cell4+ 
442Neoplasm Recurrence, Local4+ 
443Anemia, Hypochromic4+ 
444Myelodysplastic Syndromes4+ 
445Brain Diseases, Metabolic, Inborn4+ 
446Kidney Failure, Chronic4+ 
447Prader-Willi Syndrome4+ 
448Leukemia, Myeloid4+ 
449Alexander Disease4+ 
450Bone Neoplasms4+ 
451Hyper-IgM Immunodeficiency Syndrome4+ 
452Amyloid Neuropathies, Familial4+ 
453Neurofibromatoses4+ 
454Philadelphia Chromosome4+ 
455Rothmund-Thomson Syndrome4+ 
456Hyperammonemia4+ 
457Hyperthyroidism4+ 
458Craniofacial Dysostosis4+ 
459Ovarian Neoplasms4+ 
460Polyneuropathies4+ 
461Motor Neuron Disease4+ 
462Disease Susceptibility4+ 
463Osteopetrosis4+ 
464Apraxias4+ 
465Skin Diseases4+ 
466Kidney Neoplasms4+ 
467Thrombocytopenia4+ 
468Leukemia, Promyelocytic, Acute4+ 
469Maple Syrup Urine Disease4+ 
470Niemann-Pick Disease, Type C4+ 
471Respiratory Distress Syndrome, Newborn4+ 
472Alagille Syndrome4+ 
473Diabetes Mellitus, Type 14+ 
474Telangiectasia, Hereditary Hemorrhagic4+ 
475Glaucoma, Open-Angle4+ 
476Inflammation4+ 
477Malformations of Cortical Development4+ 
478Hyperinsulinism4+ 
479Ocular Motility Disorders4+ 
480Eye Diseases4+ 
481Homocystinuria4+ 
482Macular Degeneration4+ 
483Hypocalcemia4+ 
484Hypoglycemia4+ 
485Blindness4+ 
486Adrenocortical Carcinoma4+ 
487Proteinuria4+ 
488Polycystic Ovary Syndrome4+ 
489Parathyroid Neoplasms4+ 
490Glycogen Storage Disease Type I4+ 
491Supratentorial Neoplasms4+ 
492Cryptorchidism4+ 
493Tooth Abnormalities4+ 
494Precancerous Conditions4+ 
495Paraganglioma, Extra-Adrenal4+ 
496Angioedema4+ 
497Hypokalemia3+ 
498Dental Enamel Hypoplasia3+ 
499Hypergammaglobulinemia3+ 
500Colonic Neoplasms3+ 
501Fanconi Anemia3+ 
502Coronary Artery Disease3+ 
503Tuberous Sclerosis3+ 
504Gastrointestinal Diseases3+ 
505Chorea3+ 
506Central Nervous System Diseases3+ 
507Death, Sudden, Cardiac3+ 
508Scoliosis3+ 
509Leg Dermatoses3+ 
510Calcinosis3+ 
511Intestinal Neoplasms3+ 
512Infertility, Male3+ 
513Intracranial Hemorrhages3+ 
514Glycogen Storage Disease Type IV3+ 
515Fatty Liver3+ 
516Friedreich Ataxia3+ 
517Hypopituitarism3+ 
518Malignant Hyperthermia3+ 
519Thoracic Neoplasms3+ 
520Liver Neoplasms3+ 
521Hypertrophy, Left Ventricular3+ 
522Paraplegia3+ 
523Hypercalcemia3+ 
524Leiomyomatosis3+ 
525Pancreatic Neoplasms3+ 
526Porphyrias3+ 
527Hyperlipidemias3+ 
528Aneuploidy3+ 
529Hyperplasia3+ 
530Basal Cell Nevus Syndrome3+ 
531Thyroid Nodule3+ 
532Neutropenia3+ 
533Soft Tissue Neoplasms3+ 
534Cardiomegaly3+ 
535Osteosarcoma3+ 
536Congenital Abnormalities3+ 
537Melanoma3+ 
538Thrombosis3+ 
539Heart Failure3+ 
540Heart Defects, Congenital3+ 
541Cell Transformation, Neoplastic3+ 
542Leukemia-Lymphoma, Adult T-Cell3+ 
543Esophageal Neoplasms3+ 
544Agenesis of Corpus Callosum3+ 
545Brain Diseases3+ 
546Vitamin E Deficiency3+ 
547Liver Failure3+ 
548Acute Disease3+ 
549Leukemia3+ 
550Splenomegaly3+ 
551Stroke3+ 
552Nephrotic Syndrome3+ 
553Carcinoma, Neuroendocrine3+ 
554Thromboembolism3+ 
555Rare Diseases3+ 
556Thrombophlebitis3+ 
557Retinal Diseases3+ 
558Ring Chromosomes3+ 
559Hypertrophy3+ 
560Endometrial Neoplasms3+ 
561Vision Disorders3+ 
562Carcinoma, Papillary3+ 
563Obesity2+ 
564Pituitary Neoplasms2+ 
565Burkitt Lymphoma2+ 
566Rhabdoid Tumor2+ 
567Arrhythmogenic Right Ventricular Dysplasia2+ 
568Sarcoma2+ 
569Purpura, Thrombotic Thrombocytopenic2+ 
570Cerebellar Neoplasms2+ 
571Periodontitis2+ 
572Cognition Disorders2+ 
573Liver Cirrhosis2+ 
574Lung Diseases2+ 
575Autoimmune Diseases2+ 
576Carcinoma, Squamous Cell2+ 
577Lymphatic Metastasis2+ 
578Hydrocephalus2+ 
579Pregnancy Complications2+ 
580Lymphoproliferative Disorders2+ 
581Carcinoma, Renal Cell2+ 
582Neoplasm Metastasis2+ 
583Pancreatitis2+ 
584Trisomy2+ 
585Cysts1+ 

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