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DiseasesRatingBibliogr.Expand
1Abnormalities, Multiple100+ 
2Syndrome97+ 
3Intellectual Disability92+ 
4Chromosome Deletion86+ 
5Genetic Predisposition to Disease76+ 
6Facies70+ 
7Developmental Disabilities67+ 
8Craniofacial Abnormalities62+ 
9Chromosome Disorders56+ 
10Chromosome Aberrations54+ 
11Trisomy49+ 
12Growth Disorders45+ 
13Microcephaly43+ 
14Muscle Hypotonia42+ 
15Translocation, Genetic40+ 
16Sex Chromosome Aberrations39+ 
17alpha 1-Antitrypsin Deficiency38+ 
18Chromosome Duplication38+ 
19Prader-Willi Syndrome38+ 
20Hand Deformities, Congenital37+ 
21Genetic Diseases, X-Linked37+ 
22Psychomotor Disorders34+ 
23Limb Deformities, Congenital34+ 
24Noonan Syndrome33+ 
25Uniparental Disomy33+ 
26Charcot-Marie-Tooth Disease32+ 
27Mental Retardation, X-Linked32+ 
28Rett Syndrome31+ 
29Ring Chromosomes30+ 
30Foot Deformities, Congenital30+ 
31Eye Abnormalities30+ 
32Osteochondrodysplasias30+ 
33Fragile X Syndrome30+ 
34Genetic Diseases, Inborn29+ 
35alpha-Thalassemia29+ 
36Chromosome Breakage29+ 
37beta-Thalassemia29+ 
38Disease Progression27+ 
39Disease Models, Animal27+ 
40Muscular Dystrophies26+ 
41Diseases in Twins26+ 
42Autistic Disorder25+ 
43Turner Syndrome25+ 
44Monosomy25+ 
45Dwarfism25+ 
46Learning Disorders25+ 
47Leukemia, Lymphoid24+ 
48Spinocerebellar Ataxias24+ 
49Mitochondrial Diseases23+ 
50Bone Diseases, Developmental23+ 
51Aneuploidy23+ 
52Severe Combined Immunodeficiency23+ 
53Hypertelorism22+ 
54Language Development Disorders22+ 
55Parkinsonian Disorders22+ 
56Congenital Abnormalities21+ 
57Craniosynostoses21+ 
58Chromosome Inversion21+ 
59Epilepsy21+ 
60Polydactyly21+ 
61Muscular Dystrophies, Limb-Girdle20+ 
62Cleft Palate20+ 
63Disorders of Sex Development20+ 
64Arthrogryposis20+ 
65DiGeorge Syndrome20+ 
66Agenesis of Corpus Callosum20+ 
67Carbohydrate Metabolism, Inborn Errors20+ 
68Thalassemia19+ 
69Gonadal Dysgenesis, 46,XY19+ 
70Muscular Dystrophy, Facioscapulohumeral19+ 
71Abnormal Karyotype19+ 
72Frontotemporal Dementia19+ 
73Macrocephaly19+ 
74Microphthalmos19+ 
75Coloboma19+ 
76Heart Defects, Congenital19+ 
77Upper Extremity Deformities, Congenital19+ 
78Muscular Dystrophy, Duchenne18+ 
79Metabolism, Inborn Errors18+ 
80Seizures, Febrile18+ 
81Skin Abnormalities18+ 
82Aniridia18+ 
83Silver-Russell Syndrome18+ 
84Gonadal Dysgenesis, 46,XX18+ 
85Sandhoff Disease18+ 
86Obesity18+ 
87Ataxia18+ 
88Retinitis Pigmentosa18+ 
89Gaucher Disease17+ 
90Blepharophimosis17+ 
91Down Syndrome17+ 
92Sex Chromosome Disorders17+ 
93Congenital Disorders of Glycosylation17+ 
94Lymphoma, T-Cell17+ 
95Ichthyosis17+ 
96Immunologic Deficiency Syndromes17+ 
97Ectodermal Dysplasia17+ 
98Fetal Growth Retardation17+ 
99Marfan Syndrome17+ 
100Skin Neoplasms17+ 
101Lymphocytosis17+ 
102Gonadal Dysgenesis16+ 
103Androgen-Insensitivity Syndrome16+ 
104Progeria16+ 
105Hand Deformities16+ 
106Leukemia16+ 
107Nervous System Malformations16+ 
108Williams Syndrome16+ 
109Hypospadias16+ 
110Machado-Joseph Disease16+ 
111Gonadal Dysgenesis, Mixed15+ 
112Child Development Disorders, Pervasive15+ 
113Friedreich Ataxia15+ 
114Cognition Disorders15+ 
115Rhabdoid Tumor15+ 
116Seizures15+ 
117Muscle Weakness15+ 
118Peroxisomal Disorders15+ 
119Maxillofacial Abnormalities15+ 
120Lissencephaly15+ 
121Hypopigmentation15+ 
122Tooth Abnormalities15+ 
123Deafness15+ 
124Atrophy15+ 
125Mitochondrial Myopathies15+ 
126Beckwith-Wiedemann Syndrome15+ 
127MELAS Syndrome15+ 
128Dystonic Disorders14+ 
129Cerebellar Ataxia14+ 
130Hypogonadism14+ 
131Failure to Thrive14+ 
132Holoprosencephaly14+ 
133Hereditary Sensory and Motor Neuropathy14+ 
134Hyperlipoproteinemia Type III14+ 
135Retinal Degeneration14+ 
136Acrocephalosyndactylia14+ 
137Smith-Lemli-Opitz Syndrome14+ 
138Nails, Malformed14+ 
139Hematologic Diseases14+ 
140Osteogenesis Imperfecta14+ 
141Arachnodactyly14+ 
142Abnormalities, Drug-Induced14+ 
143Lipodystrophy14+ 
144Clubfoot14+ 
145Hypertrichosis14+ 
146Spastic Paraplegia, Hereditary14+ 
147Chondrodysplasia Punctata14+ 
148Hearing Loss, Sensorineural14+ 
149Isochromosomes14+ 
150Mucopolysaccharidosis I14+ 
151Muscular Atrophy, Spinal13+ 
152Hearing Loss13+ 
153Gerstmann-Straussler-Scheinker Disease13+ 
154Speech Disorders13+ 
155Lymphoma13+ 
156Agammaglobulinemia13+ 
157Cleft Lip13+ 
158Albinism, Oculocutaneous13+ 
159Wolf-Hirschhorn Syndrome13+ 
160De Lange Syndrome13+ 
161Muscle Hypertonia13+ 
162Cataract13+ 
163Kallmann Syndrome13+ 
164Muscular Atrophy13+ 
165Oligospermia12+ 
166Child Behavior Disorders12+ 
167Muscular Diseases12+ 
168Pelizaeus-Merzbacher Disease12+ 
169Lymphoma, T-Cell, Cutaneous12+ 
170Cell Transformation, Viral12+ 
171Fetal Diseases12+ 
172Cell Transformation, Neoplastic12+ 
173Lymphoma, Non-Hodgkin12+ 
174Chromosomal Instability12+ 
175Dementia12+ 
176Foot Deformities12+ 
177Epidermolysis Bullosa Dystrophica12+ 
178Dystonia12+ 
179Mucopolysaccharidosis II12+ 
180Lymphoproliferative Disorders12+ 
181Craniofacial Dysostosis12+ 
182Sotos Syndrome12+ 
183Lipid Metabolism, Inborn Errors12+ 
184Lymphoma, B-Cell12+ 
185Mitochondrial Encephalomyopathies12+ 
186Epilepsy, Generalized11+ 
187Micrognathism11+ 
188Leukemia, Biphenotypic, Acute11+ 
189Puberty, Delayed11+ 
190Alopecia11+ 
191Aging, Premature11+ 
192Precursor Cell Lymphoblastic Leukemia-Lymphoma11+ 
193Distal Myopathies11+ 
194Spinocerebellar Degenerations11+ 
195Cardiomyopathy, Hypertrophic, Familial11+ 
196Epidermolysis Bullosa Simplex11+ 
197Nystagmus, Congenital11+ 
198Jacobsen Distal 11q Deletion Syndrome11+ 
199Eye Diseases, Hereditary11+ 
200Myotonic Disorders11+ 
201Nervous System Diseases11+ 
202Pseudopseudohypoparathyroidism11+ 
203Spasms, Infantile11+ 
204Myasthenic Syndromes, Congenital11+ 
205Gait Disorders, Neurologic11+ 
206Myotonia Congenita11+ 
207Adenomatous Polyposis Coli11+ 
208Ataxia Telangiectasia11+ 
209Anophthalmos11+ 
210Musculoskeletal Abnormalities11+ 
211Pierre Robin Syndrome11+ 
212Hirschsprung Disease11+ 
213Language Disorders11+ 
214Alzheimer Disease11+ 
215Retinal Dystrophies11+ 
216Corneal Dystrophies, Hereditary11+ 
217Hypokinesia10+ 
218Epilepsies, Myoclonic10+ 
219Movement Disorders10+ 
220Body Dysmorphic Disorders10+ 
221Walker-Warburg Syndrome10+ 
222Cri-du-Chat Syndrome10+ 
223Ectromelia10+ 
224Mucolipidoses10+ 
225Polyploidy10+ 
226Costello Syndrome10+ 
227Skin Diseases, Genetic10+ 
228Classical Lissencephalies and Subcortical Band Heterotopias10+ 
229Recurrence10+ 
230Sex Chromosome Disorders of Sex Development10+ 
231Lower Extremity Deformities, Congenital10+ 
232Congenital Hypothyroidism10+ 
233Lipodystrophy, Congenital Generalized10+ 
234Connective Tissue Diseases10+ 
235Prion Diseases10+ 
236Waardenburg Syndrome10+ 
237Chromosome Fragility10+ 
238Hyperlipoproteinemias10+ 
239Lymphoma, T-Cell, Peripheral10+ 
240Cystic Fibrosis10+ 
241Cardiomyopathies10+ 
242Mental Disorders10+ 
243Diabetes Mellitus10+ 
244Klinefelter Syndrome10+ 
245Microsatellite Instability10+ 
246Cockayne Syndrome10+ 
247Azoospermia10+ 
248Stereotypic Movement Disorder10+ 
249XYY Karyotype10+ 
250Dystonia Musculorum Deformans10+ 
251Malformations of Cortical Development10+ 
252Muscle Spasticity10+ 
253Mucopolysaccharidosis IV10+ 
254Dandy-Walker Syndrome10+ 
255Keratoderma, Palmoplantar10+ 
256Amino Acid Metabolism, Inborn Errors10+ 
257Albinism, Ocular10+ 
258Infertility, Male10+ 
259Neuroacanthocytosis10+ 
260Rubinstein-Taybi Syndrome9+ 
261Epidermolysis Bullosa, Junctional9+ 
262Leber Congenital Amaurosis9+ 
263Macrostomia9+ 
264Urogenital Abnormalities9+ 
265Channelopathies9+ 
266Dysostoses9+ 
267Kidney Diseases9+ 
268Zellweger Syndrome9+ 
269Long QT Syndrome9+ 
270Frontotemporal Lobar Degeneration9+ 
271Amenorrhea9+ 
272delta-Thalassemia9+ 
27322q11 Deletion Syndrome9+ 
274Erythroblastosis, Fetal9+ 
275Creutzfeldt-Jakob Syndrome9+ 
276Leukemia, Lymphocytic, Chronic, B-Cell9+ 
277Lymphoma, Large B-Cell, Diffuse9+ 
278Pseudohypoparathyroidism9+ 
279Thyroid Hormone Resistance Syndrome9+ 
280Myopathies, Structural, Congenital9+ 
281Chorea9+ 
282Cystinuria9+ 
283Adrenal Hyperplasia, Congenital9+ 
284Dysplastic Nevus Syndrome9+ 
285Hemochromatosis9+ 
286Heterotaxy Syndrome9+ 
287Lymphoma, Large-Cell, Anaplastic9+ 
288Tay-Sachs Disease9+ 
289Achondroplasia9+ 
290Ophthalmoplegia, Chronic Progressive External9+ 
291Amyotrophic Lateral Sclerosis9+ 
292Gait Ataxia9+ 
293Contracture9+ 
294Smith-Magenis Syndrome9+ 
295Tauopathies9+ 
296Primary Ovarian Insufficiency9+ 
297Diabetes Mellitus, Type 29+ 
298Neuromuscular Diseases9+ 
299Hair Diseases9+ 
300Thrombasthenia9+ 
301MERRF Syndrome9+ 
302Leukemia, T-Cell8+ 
303Hyperlipoproteinemia Type II8+ 
304Goldenhar Syndrome8+ 
305LEOPARD Syndrome8+ 
306Adrenoleukodystrophy8+ 
307Leukemia, Myeloid8+ 
308Abetalipoproteinemia8+ 
309Hyperlipoproteinemia Type IV8+ 
310Motor Neuron Disease8+ 
311Iron Overload8+ 
312Fibrous Dysplasia, Polyostotic8+ 
313Cutis Laxa8+ 
314Elliptocytosis, Hereditary8+ 
315Neoplastic Syndromes, Hereditary8+ 
316Branchio-Oto-Renal Syndrome8+ 
317Weill-Marchesani Syndrome8+ 
318Acrocallosal Syndrome8+ 
319Supranuclear Palsy, Progressive8+ 
320Refsum Disease8+ 
321Cardiomyopathy, Hypertrophic8+ 
322Sezary Syndrome8+ 
323Neurodegenerative Diseases8+ 
324Brugada Syndrome8+ 
325Ehlers-Danlos Syndrome8+ 
326Synostosis8+ 
327Periventricular Nodular Heterotopia8+ 
328Fanconi Anemia8+ 
329Andersen Syndrome8+ 
330Optic Atrophy8+ 
331Oculocerebrorenal Syndrome8+ 
332Polyhydramnios8+ 
333Feeding and Eating Disorders of Childhood8+ 
334Mucopolysaccharidoses8+ 
335Splenomegaly8+ 
336Neoplasms, Multiple Primary8+ 
337Hereditary Central Nervous System Demyelinating Diseases8+ 
33846, XY Disorders of Sex Development8+ 
339Muscle Rigidity8+ 
340Campomelic Dysplasia8+ 
341Cafe-au-Lait Spots8+ 
342Skin Diseases8+ 
343Septo-Optic Dysplasia7+ 
344Abortion, Habitual7+ 
345Abortion, Spontaneous7+ 
346Migraine with Aura7+ 
347Dyskinesias7+ 
348Hepatomegaly7+ 
349Color Vision Defects7+ 
350Hyperlipoproteinemia Type V7+ 
351Epidermolysis Bullosa7+ 
352Lymphopenia7+ 
353Anus, Imperforate7+ 
354Multiple System Atrophy7+ 
355Neurocutaneous Syndromes7+ 
356Brachydactyly7+ 
357Lesch-Nyhan Syndrome7+ 
358Mouth Abnormalities7+ 
359Disease Susceptibility7+ 
360Anemia7+ 
361Mandibulofacial Dysostosis7+ 
362Fetal Death7+ 
363Brain Diseases, Metabolic, Inborn7+ 
364Spinal Muscular Atrophies of Childhood7+ 
365Xeroderma Pigmentosum7+ 
366Leukemia, Myeloid, Acute7+ 
367Neurofibromatosis 17+ 
368Hyperpigmentation7+ 
369Blast Crisis7+ 
370Cryptorchidism7+ 
371Precancerous Conditions7+ 
372Scoliosis7+ 
373Retinal Dysplasia7+ 
374Leukemia, Prolymphocytic, T-Cell7+ 
375Ichthyosis, Lamellar7+ 
376Triploidy7+ 
377Insulin Resistance7+ 
378Leigh Disease7+ 
379Pseudohypoaldosteronism7+ 
380Adenocarcinoma7+ 
381Mucopolysaccharidosis VI7+ 
382Autoimmune Diseases7+ 
383CHARGE Syndrome7+ 
384Attention Deficit Disorder with Hyperactivity7+ 
385Thrombocytopenia7+ 
386Kearns-Sayre Syndrome7+ 
387Ichthyosiform Erythroderma, Congenital7+ 
388Prenatal Exposure Delayed Effects7+ 
389Hydrops Fetalis7+ 
390Mucopolysaccharidosis III7+ 
391Refsum Disease, Infantile7+ 
392Leukemia-Lymphoma, Adult T-Cell7+ 
393Anemia, Hypochromic7+ 
394Neuronal Ceroid-Lipofuscinoses7+ 
395Herpesviridae Infections7+ 
396Panniculitis7+ 
397Hypertriglyceridemia7+ 
398Myotonia7+ 
399Granulomatous Disease, Chronic7+ 
400Tangier Disease7+ 
401Hypotrichosis7+ 
402Hemolysis7+ 
403Dermatitis, Exfoliative6+ 
404Acute Disease6+ 
405Bernard-Soulier Syndrome6+ 
406Burkitt Lymphoma6+ 
407Niemann-Pick Diseases6+ 
408Vitelliform Macular Dystrophy6+ 
409Leukoencephalopathies6+ 
410Myotonic Dystrophy6+ 
411Histiocytosis6+ 
412von Willebrand Diseases6+ 
413Fabry Disease6+ 
414Virilism6+ 
415Disease6+ 
416Body Weight6+ 
417Neutropenia6+ 
418Dental Enamel Hypoplasia6+ 
419Peripheral Nervous System Diseases6+ 
420Birth Weight6+ 
421Leukemia, Prolymphocytic6+ 
422Cardiomyopathy, Dilated6+ 
423Blood Group Incompatibility6+ 
424Homocystinuria6+ 
425Asymptomatic Diseases6+ 
426Wiskott-Aldrich Syndrome6+ 
427Dent Disease6+ 
428Keratoderma, Palmoplantar, Epidermolytic6+ 
429Hyperplasia6+ 
430Menkes Kinky Hair Syndrome6+ 
431Hypothyroidism6+ 
432Gonadoblastoma6+ 
433Hyperkeratosis, Epidermolytic6+ 
43446, XX Disorders of Sex Development6+ 
435Apraxias6+ 
436Heredodegenerative Disorders, Nervous System6+ 
437Amyloidosis, Familial6+ 
438Blepharoptosis6+ 
439Tremor6+ 
440Intestinal Neoplasms6+ 
441Chronic Disease6+ 
442Phenylketonurias6+ 
443Osteosclerosis6+ 
444Orofaciodigital Syndromes6+ 
445Sialic Acid Storage Disease6+ 
446Hyper-IgM Immunodeficiency Syndrome, Type 16+ 
447Bone Diseases, Metabolic6+ 
448Job Syndrome6+ 
449Melanoma6+ 
450Brain Diseases6+ 
451Adrenal Insufficiency6+ 
452Lymphedema6+ 
453Steroid Metabolism, Inborn Errors6+ 
454Lymphoma, Large-Cell, Immunoblastic6+ 
455Amelogenesis Imperfecta6+ 
456Epilepsy, Benign Neonatal6+ 
457Metabolic Diseases6+ 
458Hemorrhagic Disorders6+ 
459Mycosis Fungoides6+ 
460Nephrosis6+ 
461Leukemic Infiltration6+ 
462Lipodystrophy, Familial Partial6+ 
463Basal Ganglia Diseases6+ 
464Piebaldism6+ 
465Hypohidrosis6+ 
466Mevalonate Kinase Deficiency6+ 
467Leukemia, Myelogenous, Chronic, BCR-ABL Positive6+ 
468Stomach Neoplasms6+ 
469Olivopontocerebellar Atrophies5+ 
470Darier Disease5+ 
471Infection5+ 
472Hyperphagia5+ 
473Neoplasms, Second Primary5+ 
474Arrhythmias, Cardiac5+ 
475Rare Diseases5+ 
476Night Blindness5+ 
477Glycogen Storage Disease5+ 
478Hematologic Neoplasms5+ 
479Diabetes Mellitus, Type 15+ 
480Exocrine Pancreatic Insufficiency5+ 
481Pleural Effusion, Malignant5+ 
482Cleidocranial Dysplasia5+ 
483Endocrine System Diseases5+ 
484Lymphoma, AIDS-Related5+ 
485Parkinson Disease5+ 
486Hemoglobinuria5+ 
487Hypertrophy5+ 
488Puberty, Precocious5+ 
489Muscular Dystrophy, Emery-Dreifuss5+ 
490Choanal Atresia5+ 
491Optic Atrophy, Autosomal Dominant5+ 
492Pregnancy Complications5+ 
493Neoplasms5+ 
494Nerve Degeneration5+ 
495Acidosis, Lactic5+ 
496Renal Insufficiency5+ 
497Respiratory Insufficiency5+ 
498Calcinosis5+ 
499Glycogen Storage Disease Type II5+ 
500Thrombophilia5+ 
501Langer-Giedion Syndrome5+ 
502Polycythemia5+ 
503Splenic Neoplasms5+ 
504Insomnia, Fatal Familial5+ 
505Hamartoma Syndrome, Multiple5+ 
506Ichthyosis, X-Linked5+ 
507Myoclonus5+ 
508Ovotesticular Disorders of Sex Development5+ 
509Constipation5+ 
510Overweight5+ 
511Factor V Deficiency5+ 
512Gangliosidoses5+ 
513Blood Platelet Disorders5+ 
514Colorectal Neoplasms5+ 
515Pulmonary Emphysema5+ 
516Neurofibromatoses5+ 
517Renal Aminoacidurias5+ 
518Alcohol-Induced Disorders5+ 
519Hereditary Autoinflammatory Diseases5+ 
520Reflex, Abnormal5+ 
521Fever5+ 
522Cerebral Amyloid Angiopathy, Familial5+ 
523Cholesterol Ester Storage Disease5+ 
524Ocular Motility Disorders5+ 
525Spherocytosis, Hereditary5+ 
526Parkinson Disease, Postencephalitic5+ 
527Choroideremia5+ 
528Denys-Drash Syndrome5+ 
529Liver Cirrhosis5+ 
530Acanthosis Nigricans5+ 
531Bone Diseases5+ 
532Leukodystrophy, Metachromatic5+ 
533TDP-43 Proteinopathies5+ 
534Niemann-Pick Disease, Type C5+ 
535Romano-Ward Syndrome5+ 
536Muscular Dystrophy, Oculopharyngeal5+ 
537Huntington Disease5+ 
538Hyperkinesis5+ 
539Nephritis, Hereditary5+ 
540Dyslipidemias5+ 
541Olfaction Disorders5+ 
542Proteinuria5+ 
543Hypoparathyroidism5+ 
544Brain Neoplasms5+ 
545CADASIL5+ 
546Blindness5+ 
547Cardiovascular Diseases5+ 
548Hemophilia A5+ 
549Lymphoma, Follicular5+ 
550Tetrasomy5+ 
551Pseudobulbar Palsy5+ 
552Demyelinating Diseases5+ 
553Eye Diseases5+ 
554Facial Asymmetry5+ 
555Optic Atrophy, Hereditary, Leber5+ 
556Macular Degeneration5+ 
557Genomic Instability5+ 
558Polyendocrinopathies, Autoimmune5+ 
559Lysosomal Storage Diseases5+ 
560Hypoventilation5+ 
561Leukocyte-Adhesion Deficiency Syndrome5+ 
562Metaplasia5+ 
563Lymphatic Diseases5+ 
564Infant, Newborn, Diseases5+ 
565Hemoglobinopathies4+ 
566Ectopia Lentis4+ 
567Breast Neoplasms4+ 
568X-Linked Combined Immunodeficiency Diseases4+ 
569Hyperventilation4+ 
570Retinal Diseases4+ 
571Thrombocytopenia, Neonatal Alloimmune4+ 
572Hypopituitarism4+ 
573Coproporphyria, Hereditary4+ 
574Anaplasia4+ 
575Dwarfism, Pituitary4+ 
576Hernia, Diaphragmatic4+ 
577Myopathies, Nemaline4+ 
578Glomerulosclerosis, Focal Segmental4+ 
579Myositis, Inclusion Body4+ 
580Ainhum4+ 
581Empyema, Tuberculous4+ 
582Epstein-Barr Virus Infections4+ 
583Hemoglobinuria, Paroxysmal4+ 
584Trichothiodystrophy Syndromes4+ 
585Liver Neoplasms4+ 
586Cryopyrin-Associated Periodic Syndromes4+ 
587Colorectal Neoplasms, Hereditary Nonpolyposis4+ 
588Cobblestone Lissencephaly4+ 
589Diabetes, Gestational4+ 
590Duane Retraction Syndrome4+ 
591Hyperlipidemia, Familial Combined4+ 
592Osteopoikilosis4+ 
593Respiratory Tract Infections4+ 
594Wolfram Syndrome4+ 
595Porphyria, Erythropoietic4+ 
596Diffuse Cerebral Sclerosis of Schilder4+ 
597Leukemia, B-Cell4+ 
598Neoplasm Recurrence, Local4+ 
599Li-Fraumeni Syndrome4+ 
600Acute-Phase Reaction4+ 
601Hyperinsulinism4+ 
602Antley-Bixler Syndrome Phenotype4+ 
603Bartter Syndrome4+ 
604Gastrointestinal Neoplasms4+ 
605Paralysis, Hyperkalemic Periodic4+ 
606Hearing Loss, Conductive4+ 
607Laron Syndrome4+ 
608Hypertrophy, Left Ventricular4+ 
609Purine-Pyrimidine Metabolism, Inborn Errors4+ 
610Death, Sudden, Cardiac4+ 
611Neoplasms, Squamous Cell4+ 
612Nijmegen Breakage Syndrome4+ 
613Dysgerminoma4+ 
614Leukemia, Erythroblastic, Acute4+ 
615Protein-Losing Enteropathies4+ 
616Memory Disorders4+ 
617Dentofacial Deformities4+ 
618Loeys-Dietz Syndrome4+ 
619Gynecomastia4+ 
620Hypophosphatasia4+ 
621Cherubism4+ 
622Respiration Disorders4+ 
623Jaw Abnormalities4+ 
624Hypertension4+ 
625Alstrom Syndrome4+ 
626Tumor Virus Infections4+ 
627Hirsutism4+ 
628Central Nervous System Diseases4+ 
629Kuru4+ 
630Barth Syndrome4+ 
631Common Variable Immunodeficiency4+ 
632Liver Diseases4+ 
633Cachexia4+ 
634Diverticulosis, Colonic4+ 
635Optic Atrophies, Hereditary4+ 
636Hereditary Sensory and Autonomic Neuropathies4+ 
637Vitamin K Deficiency4+ 
638Propionic Acidemia4+ 
639Anemia, Sideroblastic4+ 
640Galactosemias4+ 
641Glycogen Storage Disease Type IIb4+ 
642Inflammation4+ 
643Amyloid Neuropathies, Familial4+ 
644Albinism4+ 
645Lung Neoplasms4+ 
646Photosensitivity Disorders4+ 
647Epilepsy, Tonic-Clonic4+ 
648von Willebrand Disease, Type 24+ 
649Nephrocalcinosis4+ 
650Dyskeratosis Congenita4+ 
651Arthritis4+ 
652Wolman Disease4+ 
653Alagille Syndrome4+ 
654Hyperglycemia4+ 
655Mobius Syndrome4+ 
656Oligomenorrhea4+ 
657Dementia, Multi-Infarct4+ 
658Cholestasis4+ 
659Bardet-Biedl Syndrome4+ 
660Anodontia4+ 
661Gastrointestinal Diseases4+ 
662Gliosis4+ 
663Glaucoma4+ 
664Hypobetalipoproteinemias4+ 
665Lewy Body Disease4+ 
666Hodgkin Disease4+ 
667Congenital Hyperinsulinism4+ 
668Asthenozoospermia4+ 
669Dyspepsia4+ 
670Pain Insensitivity, Congenital4+ 
671Multicystic Dysplastic Kidney4+ 
672Keratosis4+ 
673Leukemia, Large Granular Lymphocytic4+ 
674Fetal Macrosomia4+ 
675Gigantism4+ 
676Neurofibromatosis 24+ 
677Fetal Hypoxia4+ 
678Hyper-IgM Immunodeficiency Syndrome4+ 
679Brain Diseases, Metabolic4+ 
680Hydrocephalus4+ 
681Pachyonychia Congenita4+ 
682Joint Diseases4+ 
683Esophageal Achalasia4+ 
684Giant Axonal Neuropathy4+ 
685Hernia, Umbilical4+ 
686Digestive System Abnormalities4+ 
687Anemia, Diamond-Blackfan4+ 
688Ketosis4+ 
689Anemia, Hemolytic, Congenital4+ 
690Ophthalmoplegia4+ 
691von Hippel-Lindau Disease3+ 
692Carcinoma3+ 
693Anemia, Dyserythropoietic, Congenital3+ 
694Jaundice, Neonatal3+ 
695Respiratory Tract Diseases3+ 
696Anemia, Hemolytic3+ 
697Histiocytic Sarcoma3+ 
698Cerebellar Diseases3+ 
699Multiple Endocrine Neoplasia Type 13+ 
700Nevus, Pigmented3+ 
701Oligohydramnios3+ 
702Kidney Neoplasms3+ 
703Immune System Diseases3+ 
704Cardiovascular Abnormalities3+ 
705Postmortem Changes3+ 
706Focal Dermal Hypoplasia3+ 
707Hyperostosis3+ 
708Ellis-Van Creveld Syndrome3+ 
709Metabolic Syndrome X3+ 
710Intestinal Polyposis3+ 
711Hypoglycemia3+ 
712Deltaretrovirus Infections3+ 
713Cartilage Diseases3+ 
714Multiple Endocrine Neoplasia Type 2a3+ 
715Pulmonary Disease, Chronic Obstructive3+ 
716Philadelphia Chromosome3+ 
717Pick Disease of the Brain3+ 
718Erythema3+ 
719Klebsiella Infections3+ 
720Blister3+ 
721Myopia3+ 
722Synkinesis3+ 
723Lafora Disease3+ 
724Sleep Apnea, Central3+ 
725Cerebral Palsy3+ 
726Corneal Opacity3+ 
727Bone Marrow Diseases3+ 
728Heart Septal Defects, Atrial3+ 
729Prenatal Injuries3+ 
730Epilepsy, Post-Traumatic3+ 
731Plaque, Amyloid3+ 
732Lymphatic Metastasis3+ 
733Leukemia, Hairy Cell3+ 
734Gram-Positive Bacterial Infections3+ 
735Hermanski-Pudlak Syndrome3+ 
736Wilms Tumor3+ 
737Vestibular Diseases3+ 
738Athetosis3+ 
739Fatty Liver3+ 
740Sleep Disorders3+ 
741Chondrodysplasia Punctata, Rhizomelic3+ 
742Coffin-Lowry Syndrome3+ 
743Collagen Diseases3+ 
744Lipid Metabolism Disorders3+ 
745Carcinoma, Large Cell3+ 
746Ovarian Neoplasms3+ 
747Sick Sinus Syndrome3+ 
748Polycystic Kidney, Autosomal Dominant3+ 
749Pseudoxanthoma Elasticum3+ 
750Pycnodysostosis3+ 
751Hypergammaglobulinemia3+ 
752Pregnancy Complications, Hematologic3+ 
753Colonic Neoplasms3+ 
754Polycystic Kidney Diseases3+ 
755Mild Cognitive Impairment3+ 
756Sea-Blue Histiocyte Syndrome3+ 
757Retinoschisis3+ 
758Sarcoma3+ 
759Nevus3+ 
760Deficiency Diseases3+ 
761Tetralogy of Fallot3+ 
762Mood Disorders3+ 
763Strabismus3+ 
764Hyperlipidemias3+ 
765Nystagmus, Pathologic3+ 
766Bloom Syndrome3+ 
767Steatorrhea3+ 
768Citrullinemia3+ 
769Low Tension Glaucoma3+ 
770Osteoarthritis3+ 
771Corneal Dystrophy, Juvenile Epithelial of Meesmann3+ 
772Leukomalacia, Periventricular3+ 
773Diabetes Complications3+ 
774Adenoma3+ 
775Polyneuropathies3+ 
776Diarrhea3+ 
777Rothmund-Thomson Syndrome3+ 
778Chediak-Higashi Syndrome3+ 
779Glaucoma, Open-Angle3+ 
780Goiter3+ 
781Amaurosis Fugax3+ 
782Prune Belly Syndrome3+ 
783Schizophrenia3+ 
784Carcinoma, Ductal, Breast3+ 
785Precursor T-Cell Lymphoblastic Leukemia-Lymphoma3+ 
786Hypoxia-Ischemia, Brain3+ 
787Hemophilia B3+ 
788Activated Protein C Resistance3+ 
789Incontinentia Pigmenti3+ 
790Asperger Syndrome3+ 
791Sickle Cell Trait3+ 
792Myeloproliferative Disorders3+ 
793Pleural Effusion3+ 
794Infant, Premature, Diseases3+ 
795Short Rib-Polydactyly Syndrome3+ 
796Ectodermal Dysplasia 1, Anhidrotic3+ 
797Neoplasm Invasiveness3+ 
798Myelodysplastic Syndromes3+ 
799Wound Infection3+ 
800Emphysema3+ 
801Anemia, Sickle Cell3+ 
802Metal Metabolism, Inborn Errors3+ 
803Immunoblastic Lymphadenopathy3+ 
804Diabetes Insipidus, Nephrogenic3+ 
805Pelger-Huet Anomaly3+ 
806alpha-Mannosidosis3+ 
807Encephalocele3+ 
808Tyrosinemias3+ 
809Myopathy, Central Core3+ 
810Hepatoblastoma3+ 
811Torticollis3+ 
812Hypothalamic Neoplasms3+ 
813Cardiomegaly3+ 
814Muscle Cramp3+ 
815Gastroesophageal Reflux3+ 
816Coagulation Protein Disorders3+ 
817Seminoma3+ 
818Alexander Disease3+ 
819Multiple Myeloma3+ 
820Dysarthria3+ 
821Gyrate Atrophy3+ 
822Ductus Arteriosus, Patent3+ 
823Epilepsy, Reflex3+ 
824Myoclonic Epilepsies, Progressive3+ 
825Agranulocytosis3+ 
826Retinoblastoma3+ 
827Hearing Disorders3+ 
828Hypercholesterolemia3+ 
829Arthritis, Rheumatoid3+ 
830Thymus Neoplasms3+ 
831Kyphosis3+ 
832Osteoporosis3+ 
833Bone Neoplasms3+ 
834Leukemia, Monocytic, Acute3+ 
835Fibromatosis, Gingival3+ 
836Glucose Intolerance3+ 
837Adenocarcinoma, Mucinous3+ 
838Anemia, Macrocytic3+ 
839Thyroid Neoplasms3+ 
840Neuroaxonal Dystrophies3+ 
841Nephrotic Syndrome3+ 
842Esophageal Atresia3+ 
843Hamartoma3+ 
844HIV Infections3+ 
845Acquired Immunodeficiency Syndrome3+ 
846Bacteremia3+ 
847Personality Disorders3+ 
848Hartnup Disease3+ 
849Infertility3+ 
850Glucosephosphate Dehydrogenase Deficiency3+ 
851Pantothenate Kinase-Associated Neurodegeneration3+ 
852Liver Failure3+ 
853Hypercalciuria3+ 
854Infertility, Female3+ 
855Holocarboxylase Synthetase Deficiency3+ 
856Hyperlipoproteinemia Type I3+ 
857Kidney Failure, Chronic3+ 
858Ichthyosis Vulgaris3+ 
859Neuroblastoma3+ 
860Neoplasms, Complex and Mixed3+ 
861Malignant Hyperthermia3+ 
862Hearing Loss, Bilateral3+ 
863Migraine Disorders3+ 
864Exostoses, Multiple Hereditary2+ 
865Soft Tissue Neoplasms2+ 
866Splenic Infarction2+ 
867Alopecia Areata2+ 
868Neoplasm Regression, Spontaneous2+ 
869Proteus Syndrome2+ 
870Tachycardia, Ventricular2+ 
871Hyperopia2+ 
872Heart Septal Defects, Ventricular2+ 
873Sjogren-Larsson Syndrome2+ 
874Pemphigus2+ 
875Pancreatic Neoplasms2+ 
876Candidiasis, Chronic Mucocutaneous2+ 
877Polyps2+ 
878Nephrolithiasis2+ 
879Hypercalcemia2+ 
880Fasciculation2+ 
881Neural Tube Defects2+ 
882Lipomatosis2+ 
883Blood Coagulation Disorders, Inherited2+ 
884Acromegaly2+ 
885Leukemia, Myelomonocytic, Chronic2+ 
886Cranial Nerve Diseases2+ 
887Testicular Neoplasms2+ 
888Lymphoma, Mantle-Cell2+ 
889Platelet Storage Pool Deficiency2+ 
890Blood Coagulation Disorders2+ 
891Paraphilias2+ 
892Paraparesis, Spastic2+ 
893Necrosis2+ 
894Multiple Acyl Coenzyme A Dehydrogenase Deficiency2+ 
895Acantholysis2+ 
896Hyperargininemia2+ 
897Nose Neoplasms2+ 
898Hypoalbuminemia2+ 
899Corneal Diseases2+ 
900Remission, Spontaneous2+ 
901Polycythemia Vera2+ 
902Multiple Endocrine Neoplasia Type 2b2+ 
903Oligodendroglioma2+ 
904Dihydropyrimidine Dehydrogenase Deficiency2+ 
905Amniotic Band Syndrome2+ 
906Hyperbilirubinemia2+ 
907Fibrosis2+ 
908Vision, Low2+ 
909Cross Infection2+ 
910Thymoma2+ 
911Histiocytosis, Langerhans-Cell2+ 
912Vesico-Ureteral Reflux2+ 
913Gitelman Syndrome2+ 
914Infectious Mononucleosis2+ 
915Motor Skills Disorders2+ 
916Kluver-Bucy Syndrome2+ 
917Myoclonic Epilepsy, Juvenile2+ 
918Vision Disorders2+ 
919Acidosis2+ 
920Cardiomyopathy, Restrictive2+ 
921Carcinoma, Medullary2+ 
922Legg-Calve-Perthes Disease2+ 
923Pneumonia, Bacterial2+ 
924Sleep Initiation and Maintenance Disorders2+ 
925Pterygium2+ 
926Scalp Dermatoses2+ 
927Aphasia, Primary Progressive2+ 
928Factor X Deficiency2+ 
929Factor XII Deficiency2+ 
930Hemorrhage2+ 
931Hypocalcemia2+ 
932Paraplegia2+ 
933Lymphomatoid Papulosis2+ 
934Xanthomatosis, Cerebrotendinous2+ 
935Cystinosis2+ 
936Autonomic Nervous System Diseases2+ 
937Empyema, Pleural2+ 
938Thanatophoric Dysplasia2+ 
939Uterine Neoplasms2+ 
940Hernia, Inguinal2+ 
941Polycystic Ovary Syndrome2+ 
942Hemangioma2+ 
943Granuloma, Lethal Midline2+ 
944Anencephaly2+ 
945Pemphigus, Benign Familial2+ 
946Glioblastoma2+ 
947Basal Cell Nevus Syndrome2+ 
948Intestinal Pseudo-Obstruction2+ 
949Autoimmune Lymphoproliferative Syndrome2+ 
950Graft vs Host Disease2+ 
951Glycogen Storage Disease Type IV2+ 
952Rhabdomyosarcoma2+ 
953Xanthomatosis2+ 
954Macroglossia2+ 
955Cytochrome-c Oxidase Deficiency2+ 
956Hypothalamic Diseases2+ 
957Rh Isoimmunization2+ 
958Nail Diseases2+ 
959Familial Mediterranean Fever2+ 
960Hematuria2+ 
961Lymphoma, B-Cell, Marginal Zone2+ 
962Adrenal Gland Neoplasms2+ 
963Epilepsy, Absence2+ 
964Retinal Neoplasms2+ 
965Lymphohistiocytosis, Hemophagocytic2+ 
966Sjogren's Syndrome2+ 
967Synovitis2+ 
968Renal Tubular Transport, Inborn Errors2+ 
969Colonic Polyps2+ 
970Hypokalemia2+ 
971Osteopetrosis2+ 
972Facial Dermatoses2+ 
973Hypoplastic Left Heart Syndrome2+ 
974Neuroma2+ 
975HIV Seropositivity2+ 
976Joint Instability2+ 
977Paralysis2+ 
978Mouth Neoplasms2+ 
979Head and Neck Neoplasms2+ 
980IgA Deficiency2+ 
981Telangiectasia, Hereditary Hemorrhagic2+ 
982Addison Disease2+ 
983Brachial Plexus Neuritis2+ 
984Stroke2+ 
985Fibromatosis, Aggressive2+ 
986Kidney Diseases, Cystic2+ 
987Cerebral Amyloid Angiopathy2+ 
988Maxillary Sinus Neoplasms2+ 
989Glycogen Storage Disease Type III2+ 
990Factor VII Deficiency2+ 
991Carcinoma, Squamous Cell2+ 
992Intestinal Atresia2+ 
993Urologic Neoplasms2+ 
994Neoplasms, Germ Cell and Embryonal2+ 
995Hyperammonemia2+ 
996Barrett Esophagus2+ 
997Iron Metabolism Disorders2+ 
998Malabsorption Syndromes2+ 
999Mitral Valve Prolapse2+ 
1000Pulmonary Valve Stenosis2+ 
1001Hip Dislocation, Congenital2+ 
1002Celiac Disease2+ 
1003Respiratory Distress Syndrome, Newborn2+ 
1004Rickets2+ 
1005Hemangioendothelioma, Epithelioid2+ 
1006Vascular Neoplasms2+ 
1007Pain2+ 
1008Sarcoma, Kaposi2+ 
1009Epilepsy, Frontal Lobe2+ 
1010Heart Failure2+ 
1011Bulbar Palsy, Progressive2+ 
1012Meningocele2+ 
1013Psychotic Disorders2+ 
1014Central Nervous System Neoplasms2+ 
1015Teratoma2+ 
1016Pancytopenia2+ 
1017Endometrial Neoplasms2+ 
1018Astrocytoma2+ 
1019Deglutition Disorders2+ 
1020Multiple Sclerosis, Chronic Progressive2+ 
1021Hyperaldosteronism2+ 
1022Hepatolenticular Degeneration2+ 
1023Prognathism2+ 
1024Ossification, Heterotopic2+ 
1025Primary Myelofibrosis2+ 
1026Facial Neoplasms2+ 
1027Jejunal Neoplasms2+ 
1028Crohn Disease2+ 
1029Pyruvate Carboxylase Deficiency Disease2+ 
1030Carcinosarcoma2+ 
1031Dilatation, Pathologic2+ 
1032Escherichia coli Infections2+ 
1033Lipomatosis, Multiple Symmetrical2+ 
1034Abdominal Neoplasms2+ 
1035Stiff-Person Syndrome2+ 
1036Arthritis, Juvenile2+ 
1037Anemia, Hemolytic, Congenital Nonspherocytic2+ 
1038Hyperparathyroidism2+ 
1039Ankylosis2+ 
1040Gallbladder Neoplasms2+ 
1041Pheochromocytoma2+ 
1042Eosinophilia2+ 
1043Hyperparathyroidism, Primary2+ 
1044Leukemia, Myelomonocytic, Acute2+ 
1045Thyroiditis, Autoimmune2+ 
1046Amyloidosis2+ 
1047Cerebellar Neoplasms2+ 
1048Thrombocythemia, Essential2+ 
1049Intestinal Polyps2+ 
1050Lupus Erythematosus, Systemic2+ 
1051Heart Block2+ 
1052Mediastinal Neoplasms2+ 
1053Rectal Neoplasms2+ 
1054Psoriasis2+ 
1055Vitamin E Deficiency2+ 
1056Lymphangiectasis, Intestinal2+ 
1057Asthma2+ 
1058Pregnancy in Diabetics2+ 
1059Pyloric Stenosis2+ 
1060Bradycardia2+ 
1061Sclerosis2+ 
1062Thoracic Neoplasms2+ 
1063Ventricular Dysfunction, Left2+ 
1064Choristoma2+ 
1065Edema2+ 
1066Cysts2+ 
1067Tuberous Sclerosis2+ 
1068Urinary Tract Infections2+ 
1069Anemia, Refractory, with Excess of Blasts2+ 
1070Hepatitis2+ 
1071Adrenal Cortex Diseases2+ 
1072Neuroendocrine Tumors2+ 
1073Hyperthyroidism2+ 
1074Cholestasis, Intrahepatic2+ 
1075Multiple Sclerosis2+ 
1076Enchondromatosis2+ 
1077Tuberculosis2+ 
1078Retroperitoneal Neoplasms2+ 
1079Histiocytosis, Non-Langerhans-Cell2+ 
1080Esophageal Neoplasms1+ 
1081Tourette Syndrome1+ 
1082Ileal Neoplasms1+ 
1083Keratitis1+ 
1084Retrognathia1+ 
1085Shock, Septic1+ 
1086Myoepithelioma1+ 
1087Cholangiocarcinoma1+ 
1088Hypophosphatemia, Familial1+ 
1089Medulloblastoma1+ 
1090Adenocarcinoma, Clear Cell1+ 
1091Porphyrias1+ 
1092Melanosis1+ 
1093Lacrimal Duct Obstruction1+ 
1094Myoglobinuria1+ 
1095Lung Diseases1+ 
1096Cytomegalovirus Infections1+ 
1097Leiomyoma1+ 
1098Gardner Syndrome1+ 
1099Arrhythmogenic Right Ventricular Dysplasia1+ 
1100Situs Inversus1+ 
1101Vascular Malformations1+ 
1102Genital Neoplasms, Male1+ 
1103Glioma1+ 
1104Tongue Neoplasms1+ 
1105Ornithine Carbamoyltransferase Deficiency Disease1+ 
1106Neoplasm Metastasis1+ 
1107Carcinoma, Renal Cell1+ 
1108Paraganglioma, Extra-Adrenal1+ 
1109Intracranial Hemorrhages1+ 
1110Adenoma, Islet Cell1+ 
1111Lung Diseases, Interstitial1+ 
1112Gastrointestinal Stromal Tumors1+ 
1113Acidosis, Renal Tubular1+ 
1114Myasthenia Gravis1+ 
1115Anemia, Aplastic1+ 
1116Colitis, Ulcerative1+ 
1117Hypereosinophilic Syndrome1+ 
1118Epidermolysis Bullosa Acquisita1+ 
1119Keratoconus1+ 
1120Peritoneal Neoplasms1+ 
1121Opportunistic Infections1+ 
1122Carcinoma, Papillary1+ 
1123Pemphigoid, Bullous1+ 
1124Paraganglioma1+ 
1125Abdominal Pain1+ 
1126Carcinoma, Adenoid Cystic1+ 
1127Lipoma1+ 
1128Paresis1+ 
1129Carcinoma, Signet Ring Cell1+ 
1130Ascites1+ 
1131Carcinoma, Endometrioid1+ 
1132Duodenal Neoplasms1+ 
1133Hemangioendothelioma1+ 
1134Multiple Organ Failure1+ 
1135Granuloma1+ 
1136Carcinoma in Situ1+ 
1137Quadriplegia1+ 
1138Pleural Neoplasms1+ 
1139Carcinoma, Hepatocellular1+ 
1140Carcinoma, Lobular1+ 
1141Headache1+ 
1142Mesothelioma1+ 
1143Pneumonia1+ 
1144Heart Diseases1+ 
1145Pituitary Neoplasms1+ 
1146Tuberculosis, Pulmonary1+ 
1147Epilepsies, Partial1+ 
1148Neoplastic Cells, Circulating1+ 
1149Pneumothorax1+ 
1150Heart Arrest1+ 
1151Osteosarcoma1+ 
1152Streptococcal Infections1+ 
1153Multiple Endocrine Neoplasia1+ 
1154Dermatomyositis1+ 
1155Syncope1+ 
1156Sarcoidosis1+ 
1157Atrial Flutter1+ 
1158Postoperative Complications1+ 
1159Hemiplegia1+ 
1160Skin Ulcer1+ 
1161Eye Neoplasms1+ 
1162Vulvar Neoplasms1+ 
1163Vascular Diseases1+ 
1164Carcinoid Tumor1+ 
1165HTLV-I Infections1+ 
1166Uterine Cervical Neoplasms1+ 
1167Leukemia, Promyelocytic, Acute1+ 
1168Drug Hypersensitivity1+ 
1169Staphylococcal Infections1+ 
1170Coronary Artery Disease1+ 
1171Sarcoma, Ewing1+ 
1172Hypertension, Pulmonary1+ 
1173Protein C Deficiency1+ 
1174Bile Duct Neoplasms1+ 
1175Carcinoma, Small Cell1+ 
1176Pregnancy Complications, Neoplastic1+ 
1177Cushing Syndrome1+ 
1178Meningeal Neoplasms1+ 
1179Carcinoma, Basal Cell1+ 
1180Retinal Detachment1+ 
1181Prostatic Neoplasms1+ 
1182Thrombosis1+ 

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