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"Retinal_dystrophy": 4, "Papillon-Lef\u00e8vre_syndrome": 4, "Oculocutaneous_albinism_type_1A": 2, "Oculocutaneous_albinism_type_1A|Oculocutaneous_albinism_type_1B": 2, "Ataxia-telangiectasia-like_disorder_1": 2, "Amelogenesis_imperfecta_hypomaturation_type_2A2": 2, "Asphyxiating_thoracic_dystrophy_3": 5, "Asphyxiating_thoracic_dystrophy_3|Jeune_thoracic_dystrophy": 2, "Jeune_thoracic_dystrophy": 2, "Ataxia-telangiectasia_syndrome": 2, "APOLIPOPROTEIN_A-IV_RARE_VARIANT|_APOA4*5": 2, "Hearing_loss|_autosomal_recessive_111": 2, "Autosomal_dominant_nonsyndromic_hearing_loss_12": 2, "Intestinal_pseudo-obstruction": 2, "Severe_growth_deficiency-strabismus-extensive_dermal_melanocytosis-intellectual_disability_syndrome": 2, "Glycogen_storage_disorder_due_to_hepatic_glycogen_synthase_deficiency": 2, "Warsaw_breakage_syndrome": 2, "Pulmonary_alveolar_proteinosis": 1, "Pulmonary_alveolar_proteinosis|Severe_early-onset_pulmonary_alveolar_proteinosis_due_to_MARS_deficiency": 2, "Vitamin_D-dependent_rickets|_type_1": 2, "Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3": 2, "Joubert_syndrome_5|Leber_congenital_amaurosis_10|Meckel_syndrome|_type_4|Senior-Loken_syndrome_6": 2, "Mucolipidosis_type_II": 6, "Pseudo-Hurler_polydystrophy": 2, "Phenylketonuria": 4, "Hypomyelinating_leukodystrophy_8_with_or_without_oligodontia_and-or_hypogonadotropic_hypogonadism": 2, "Oculocerebrofacial_syndrome|_Kaufman_type": 4, "Avascular_necrosis_of_femoral_head|_primary|_2": 2, "Autosomal_recessive_nonsyndromic_hearing_loss_1A": 2, "Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2C": 3, "Charlevoix-Saguenay_spastic_ataxia": 4, "KLOTHO_POLYMORPHISM": 6, "Congenital_diaphragmatic_hernia": 2, "Retinitis_pigmentosa_97": 2, "Wilson_disease": 5, "Bile_acid_malabsorption|_primary|_1": 2, "Alpers_encephalopathy": 2, "Congenital_factor_VII_deficiency": 2, "Lysinuric_protein_intolerance": 2, "Hypertrophic_cardiomyopathy_1": 2, "Autosomal_recessive_congenital_ichthyosis_1": 2, "Mitochondrial_complex_I_deficiency|Mitochondrial_complex_I_deficiency|_nuclear_type_21": 2, "Gonadal_dysgenesis|_dysmorphic_facies|_retinal_dystrophy|_and_myopathy": 2, "Glycogen_storage_disease|_type_VI": 2, "Asthma-related_traits|_susceptibility_to|_1": 3, "Platelet-type_bleeding_disorder_15": 2, "Cholestasis|Hepatic_fibrosis|high_serum_bile_salts|normal_GGT": 2, "Nevus_comedonicus_syndrome": 2, "Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2N": 2, "Alpha-1-antitrypsin_deficiency": 8, "PI_M(NICHINAN)": 2, "SKIN/HAIR/EYE_PIGMENTATION_1|_BLUE/NONBLUE_EYES": 3, "Autism_spectrum_disorder|Macrocephaly": 2, "Ehlers-Danlos_syndrome|_musculocontractural_type_1": 2, "Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2A": 4, "Autosomal_dominant_nonsyndromic_hearing_loss_16": 2, "Hereditary_spastic_paraplegia_11": 2, "Dystonic_disorder|Global_developmental_delay|Hearing_impairment|Microcephaly|Seizure|Spastic_tetraparesis|Visual_impairment": 2, "Bartter_disease_type_1": 4, "Microcephaly_9|_primary|_autosomal_recessive": 2, "Pituitary_dependent_hypercortisolism": 2, "Stuttering|_familial_persistent|_1": 2, "High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_12": 2, "Reticulate_acropigmentation_of_Kitamura": 2, "Ceroid_lipofuscinosis|_neuronal|_6A": 2, "Tay-Sachs_disease|_B1_variant": 2, "Neurodevelopmental_disorder_with_seizures_and_gingival_overgrowth": 2, "Sensory_ataxic_neuropathy|_dysarthria|_and_ophthalmoparesis": 2, "Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions|_autosomal_recessive_1|Sensory_ataxic_neuropathy|_dysarthria|_and_ophthalmoparesis": 2, "POLG-Related_Spectrum_Disorders|not_provided": 2, "Bloom_syndrome": 6, "Osteootohepatoenteric_syndrome": 2, "Arthrogryposis|_renal_dysfunction|_and_cholestasis_1": 2, "alpha_Thalassemia": 3, "HEMOGLOBIN_J_(SINGAPORE)": 2, "Epilepsy|_childhood_absence|_susceptibility_to|_6": 2, "TELO2-related_intellectual_disability-neurodevelopmental_disorder": 2, "Tuberous_sclerosis_syndrome": 7, "Tuberous_sclerosis_2": 2, "Renal_cyst": 2, "Polycystic_kidney_disease|_adult_type": 5, "Familial_infantile_myoclonic_epilepsy": 2, "DOORS_syndrome|Developmental_and_epileptic_encephalopathy|_16|Familial_infantile_myoclonic_epilepsy": 2, "THOC6-related_developmental_delay-microcephaly-facial_dysmorphism_syndrome": 5, "Familial_Mediterranean_fever": 6, "Familial_Mediterranean_fever|_autosomal_dominant": 1, "Familial_Mediterranean_fever|_autosomal_dominant|not_specified": 1, "Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations": 2, "PMM2-congenital_disorder_of_glycosylation": 2, "Rheumatoid_arthritis": 1, "Dyskeratosis_congenita": 2, "Aortic_aneurysm|_familial_thoracic_4": 4, "Leukoencephalopathy-thalamus_and_brainstem_anomalies-high_lactate_syndrome": 2, "Hereditary_breast_ovarian_cancer_syndrome": 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"Combined_oxidative_phosphorylation_defect_type_17": 2, "Birt-Hogg-Dube_syndrome": 2, "Autosomal_recessive_nonsyndromic_hearing_loss_3": 8, "Sj\u00f6gren-Larsson_syndrome": 4, "Neurofibromatosis|_type_1": 5, "Mucopolysaccharidosis|_MPS-III-B": 2, "Lethal_congenital_contracture_syndrome_7": 2, "Breast-ovarian_cancer|_familial|_susceptibility_to|_1": 8, "Sclerosteosis_1": 2, "Autosomal_dominant_distal_renal_tubular_acidosis": 2, "Glanzmann_thrombasthenia": 2, "Alexander_disease": 4, "Progressive_myoclonic_epilepsy_type_6": 2, "Osteogenesis_imperfecta_type_I": 2, "Bardet-Biedl_syndrome_13": 2, "Myeloperoxidase_deficiency": 4, "Intellectual_disability|_autosomal_dominant_56": 2, "Hyperkalemic_periodic_paralysis": 2, "Amelogenesis_imperfecta_type_1G": 2, "Pontocerebellar_hypoplasia_type_2A|Pontocerebellar_hypoplasia_type_4": 2, "Spermatogenic_failure_39": 4, "Glycogen_storage_disease|_type_II": 4, "Mitochondrial_DNA_depletion_syndrome_19|Mitochondrial_complex_I_deficiency": 2, "GCGR-related_hyperglucagonemia": 2, "Optic_atrophy": 2, "Abnormal_cerebellum_morphology|Dystonic_disorder|Optic_atrophy": 2, "Cerebellar_ataxia|Chorea|Myoclonus|Optic_atrophy|Spasticity": 2, "Niemann-Pick_disease|_type_C1": 6, "Amyloidosis|_hereditary_systemic_1": 2, "Vici_syndrome": 12, "Autosomal_recessive_nonsyndromic_hearing_loss_77": 2, "Cholestasis|_progressive_familial_intrahepatic|_10": 2, "Reclassified_-_variant_of_unknown_significance": 8, "Gaze_palsy|_familial_horizontal|_with_progressive_scoliosis|_2": 2, "Protoporphyria|_erythropoietic|_1": 3, "Combined_immunodeficiency": 2, "Obesity": 2, "Multiple_congenital_anomalies-hypotonia-seizures_syndrome_1": 2, "Choanal_atresia-hearing_loss-cardiac_defects-craniofacial_dysmorphism_syndrome": 4, "Combined_oxidative_phosphorylation_deficiency_55": 2, "Neutropenia|_severe_congenital|_1|_autosomal_dominant": 2, "Recurrent_Neisseria_infections_due_to_factor_D_deficiency": 2, "Deficiency_of_guanidinoacetate_methyltransferase": 2, "Cayman_type_cerebellar_ataxia": 2, "Hypertriglyceridemia_2": 2, "Le(-)_PHENOTYPE": 2, "Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans": 2, "Rabson-Mendenhall_syndrome": 4, "Leprechaunism_syndrome": 1, "Ataxia-hypogonadism-choroidal_dystrophy_syndrome": 2, "Weill-Marchesani_syndrome_1": 2, "Virus-induced_diabetes": 6, "Hypercholesterolemia|_familial|_1": 10, "Familial_hypercholesterolemia|Homozygous_familial_hypercholesterolemia|Hypercholesterolemia|_familial|_1": 2, "Cardiomyopathy|_dilated|_2H": 2, "Marfanoid_habitus_and_intellectual_disability|Marshall-Smith_syndrome": 2, "T-B+_severe_combined_immunodeficiency_due_to_JAK3_deficiency": 2, "Cold-induced_sweating_syndrome_1": 2, "Right_atrial_isomerism": 2, "Finnish_congenital_nephrotic_syndrome": 4, "Congenital_multicore_myopathy_with_external_ophthalmoplegia": 7, "Central_core_myopathy": 5, "Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided": 3, "Malignant_hyperthermia|_susceptibility_to|_1": 2, "Central_core_myopathy|Congenital_multicore_myopathy_with_external_ophthalmoplegia": 1, "Diamond-Blackfan_anemia_1": 4, "Familial_type_3_hyperlipoproteinemia": 5, "APOE4(-)-FREIBURG|Familial_hypercholesterolemia": 1, "APOE5_VARIANT": 1, "APOE3_VARIANT": 2, "APOE3_ISOFORM|Alzheimer_disease_3|_protection_against|_due_to_APOE3-Christchurch": 2, "APOE4(-)-FREIBURG|APOE5_VARIANT|Familial_hypercholesterolemia|Familial_type_3_hyperlipoproteinemia|not_specified": 1, "Hyperlipoproteinemia_due_to_APOE1": 1, "Alzheimer_disease_3|_protection_against|_due_to_APOE3-Christchurch": 1, "Familial_type_3_hyperlipoproteinemia|Hyperlipoproteinemia_due_to_APOE1|not_specified": 1, "HYPERLIPOPROTEINEMIA|_TYPE_III|_AND_ATHEROSCLEROSIS_ASSOCIATED_WITH_APOE7": 2, "Xeroderma_pigmentosum": 2, "Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I": 3, "Hereditary_hyperferritinemia_with_congenital_cataracts": 2, "LHB_POLYMORPHISM": 2, "Immunodeficiency_120": 2, "Fatal_familial_insomnia|Inherited_Creutzfeldt-Jakob_disease": 2, "McKusick-Kaufman_syndrome": 2, "Developmental_cataract": 4, "Glutathione_synthetase_deficiency_with_5-oxoprolinuria": 2, "Acromesomelic_dysplasia_2B": 3, "Septo-optic_dysplasia_sequence|Tubulinopathy": 2, "DNA_topoisomerase_I|_camptothecin-resistant": 2, "SCID_due_to_ADA_deficiency|_delayed_onset": 2, "Severe_combined_immunodeficiency|_autosomal_recessive|_T_cell-negative|_B_cell-negative|_NK_cell-negative|_due_to_adenosine_deaminase_deficiency": 7, "Periventricular_heterotopia_with_microcephaly|_autosomal_recessive": 2, "Dyskeratosis_congenita|_autosomal_recessive_5": 2, "Microcephaly|_short_stature|_and_limb_abnormalities": 4, "Microcephalic_primordial_dwarfism": 2, "Leukocyte_adhesion_deficiency_1": 4, "BETHLEM_MYOPATHY_1B|_AUTOSOMAL_RECESSIVE": 2, "Vasculitis_due_to_ADA2_deficiency": 2, "Peroxisome_biogenesis_disorder_7A_(Zellweger)": 1, "Polymicrogyria|_perisylvian|_with_cerebellar_hypoplasia_and_arthrogryposis": 2, "Autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance": 2, "Myocardial_infarction|_susceptibility_to": 5, "Neurofibromatosis|_type_2": 2, "Parkinsonian-pyramidal_syndrome": 2, "Focal_segmental_glomerulosclerosis_4|_susceptibility_to|Focal_segmental_glomerulosclerosis|_susceptibility_to|Hyalinosis|_Segmental_Glomerular": 2, "Hyalinosis|_Segmental_Glomerular": 1, "Infantile_neuroaxonal_dystrophy": 4, "Adenylosuccinate_lyase_deficiency": 2, "Optic_atrophy_9": 2, "Debrisoquine|_ultrarapid_metabolism_of|Deutetrabenazine_response|Tamoxifen_response": 2, "Deutetrabenazine_response|Tamoxifen_response": 1, "Optic_atrophy_15": 2, "Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins": 2, "Microcephaly_and_chorioretinopathy_1": 2, "Orofaciodigital_syndrome_I": 2, "Nance-Horan_syndrome": 2, "Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets": 2, "Becker_muscular_dystrophy": 2, "Duchenne_muscular_dystrophy": 2, "Spermatogenic_failure|_X-linked|_3": 2, "Intellectual_disability|_X-linked_syndromic|_Turner_type": 2, "Hypohidrotic_X-linked_ectodermal_dysplasia": 2, "Fabry_disease": 8, "Hearing_loss|_X-linked_6": 2, "X-linked_Alport_syndrome": 2, "Hyper-IgM_syndrome_type_1": 2, "Mucopolysaccharidosis|_MPS-II": 6, "Creatine_transporter_deficiency": 2, "SSR4-congenital_disorder_of_glycosylation": 1, "Severe_neonatal-onset_encephalopathy_with_microcephaly": 3, "Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency": 27, "Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency|Chronic_granuloma_and_hemolytic_anemia": 3, "Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency|G6PD_SANTAMARIA": 1, "Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency|G6PD_SANTAMARIA|G6PD_deficiency": 1, "Anemia|_nonspherocytic_hemolytic|_due_to_G6PD_deficiency|G6PD_deficiency": 1 } }