QC Dashboard - Multi-File Comparison

3300 files analyzed (sorted by compliance, lowest first)

Files Analyzed

3300

Average Compliance

90.1%

Total Checks

539510/598566

Total Violations

868

Slot Compliance Comparison

File Comparison

Priority Files - Detailed View

Showing the 10 files with lowest compliance for prioritized curation.

#1: Nontuberculous_Mycobacterial_Lung_Disease.yaml (53.3%)

Detail for Nontuberculous_Mycobacterial_Lung_Disease.yaml

#2: Klebsiella_Pneumonia.yaml (54.2%)

Detail for Klebsiella_Pneumonia.yaml

#3: Sturge-Weber_Syndrome.yaml (58.4%)

Detail for Sturge-Weber_Syndrome.yaml

#4: Chikungunya.yaml (63.7%)

Detail for Chikungunya.yaml

#5: Uveal_Melanoma.yaml (64.8%)

Detail for Uveal_Melanoma.yaml

#6: FGFR_Altered_Cholangiocarcinoma.yaml (66.7%)

Detail for FGFR_Altered_Cholangiocarcinoma.yaml

#7: Gastrointestinal_Stromal_Tumor.yaml (67.2%)

Detail for Gastrointestinal_Stromal_Tumor.yaml

#8: Pulmonary_hypertension.yaml (67.4%)

Detail for Pulmonary_hypertension.yaml

#9: Diffuse_Large_B_Cell_Lymphoma.yaml (67.5%)

Detail for Diffuse_Large_B_Cell_Lymphoma.yaml

#10: IDH_Mutant_Cholangiocarcinoma.yaml (67.8%)

Detail for IDH_Mutant_Cholangiocarcinoma.yaml

All Files (Sorted by Priority)

Files with lowest compliance are listed first to prioritize curation efforts.

File Global Weighted Populated Violations
#1 Nontuberculous_Mycobacterial_Lung_Disease.yaml 53.3% 66.7% 81/152
#2 Klebsiella_Pneumonia.yaml 54.2% 63.9% 58/107 1
#3 Sturge-Weber_Syndrome.yaml 58.4% 63.8% 73/125 1
#4 Chikungunya.yaml 63.7% 70.9% 86/135
#5 Uveal_Melanoma.yaml 64.8% 65.9% 70/108 1
#6 FGFR_Altered_Cholangiocarcinoma.yaml 66.7% 70.2% 58/87 1
#7 Gastrointestinal_Stromal_Tumor.yaml 67.2% 71.3% 43/64 1
#8 Pulmonary_hypertension.yaml 67.4% 71.4% 120/178
#9 Diffuse_Large_B_Cell_Lymphoma.yaml 67.5% 69.7% 83/123 1
#10 IDH_Mutant_Cholangiocarcinoma.yaml 67.8% 71.2% 59/87 1
IDH_Mutant_Astrocytoma.yaml 67.9% 70.6% 53/78 1
Spinocerebellar_Ataxia_Type_15_16.yaml 68.1% 73.8% 32/47 1
HER2_Positive_Gastric_Cancer.yaml 68.2% 72.1% 60/88 1
RET_Fusion_Thyroid_Cancer.yaml 68.5% 70.8% 50/73 1
PCDH19_Clustering_Epilepsy.yaml 68.5% 70.3% 85/124 1
Major_Depressive_Disorder.yaml 68.6% 70.0% 232/338 3
HIDEA_Syndrome.yaml 68.7% 74.0% 57/83 1
IDH_Mutant_AML.yaml 68.7% 71.0% 68/99 1
Pericarditis.yaml 68.8% 71.2% 141/205
Desmoplastic_Small_Round_Cell_Tumor.yaml 69.0% 71.6% 49/71
Medulloblastoma.yaml 69.2% 74.6% 36/52
HPV_Negative_Head_and_Neck_Cancer.yaml 69.5% 71.0% 82/118 1
Beta_Thalassemia.yaml 69.5% 75.0% 121/174
Infective_Endocarditis.yaml 69.6% 71.3% 103/148
GNAO1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 70.0% 73.7% 105/150
SRPX2-related_Speech_Epilepsy_Polymicrogyria.yaml 70.0% 73.1% 77/110 2
Primary_Ciliary_Dyskinesia_47_and_Lissencephaly.yaml 70.2% 74.6% 73/104
FGFR_Altered_Urothelial_Carcinoma.yaml 70.3% 72.7% 45/64 1
Myocardial_Infarction.yaml 70.3% 72.0% 166/236 3
Tetralogy_of_Fallot.yaml 70.4% 73.2% 119/169
Cutaneous_Melanoma.yaml 70.4% 71.0% 81/115 1
Mesial_Temporal_Lobe_Epilepsy_with_Hippocampal_Sclerosis.yaml 70.5% 70.3% 55/78 1
Fibromyalgia.yaml 70.5% 73.5% 103/146 1
Kaposi_Sarcoma.yaml 70.6% 73.2% 72/102 1
Rhinovirus_Infection.yaml 71.1% 75.9% 27/38
Camptodactyly.yaml 71.1% 74.6% 59/83 1
Typhoidal_Tularemia.yaml 71.2% 73.1% 94/132 1
Mixed_Germ_Cell_Tumor.yaml 71.5% 75.0% 88/123
Medulloblastoma_WNT_Activated.yaml 71.6% 73.7% 58/81 1
Pneumonic_Plague.yaml 71.8% 74.8% 56/78 1
Fuhrmann_Syndrome.yaml 71.9% 75.9% 41/57
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_22.yaml 72.0% 71.4% 77/107 1
Chronic_Lymphocytic_Leukemia.yaml 72.0% 73.1% 85/118 1
Malignant_Mesothelioma.yaml 72.0% 75.0% 67/93 1
Obstructive_Sleep_Apnea.yaml 72.1% 73.6% 119/165 1
FLNA_Intestinal_Pseudoobstruction.yaml 72.1% 75.4% 44/61
Stromal_Corneal_Dystrophy.yaml 72.2% 75.8% 96/133 1
Leber_Congenital_Amaurosis_with_Early-Onset_Deafness.yaml 72.3% 76.3% 47/65
Cervical_Dystonia.yaml 72.5% 73.6% 50/69
Nasopharyngeal_Carcinoma.yaml 72.5% 74.3% 79/109 1
Dilated_Cardiomyopathy_1EE.yaml 72.5% 75.2% 66/91
Sinoatrial_Block.yaml 72.6% 76.1% 45/62
Parkinson_Disease_Mitochondrial.yaml 72.9% 76.2% 62/85 1
Pulmonary_Embolism.yaml 73.0% 75.0% 143/196
Bubonic_Plague.yaml 73.1% 76.3% 57/78
Dravet_syndrome.yaml 73.2% 74.0% 341/466 3
Timothy_Syndrome.yaml 73.2% 75.4% 104/142 4
Alpha_1_Antitrypsin_Deficiency.yaml 73.3% 73.6% 222/303
GALNT2-Congenital_Disorder_of_Glycosylation.yaml 73.3% 75.3% 85/116
Osteoarthritis.yaml 73.3% 74.7% 85/116 1
NTRK_Fusion_Positive_Cancer.yaml 73.4% 75.3% 47/64 1
Combined_Oxidative_Phosphorylation_Defect_Type_24.yaml 73.5% 74.6% 97/132
Chlamydia_Pneumoniae_Pneumonia.yaml 73.6% 77.7% 64/87
Langerhans_Cell_Histiocytosis.yaml 73.6% 78.1% 64/87
Li-Fraumeni_Syndrome.yaml 73.6% 73.9% 142/193 1
PKP2_Cardiomyopathy.yaml 73.7% 76.9% 84/114
Chronic_Kidney_Disease.yaml 73.8% 75.1% 149/202
Heart_Failure.yaml 73.8% 75.6% 155/210
Sweeney-Cox_Syndrome.yaml 73.8% 78.4% 158/214
Rheumatic_Heart_Disease.yaml 73.8% 75.3% 144/195
BRAF_Mutant_Thyroid_Cancer.yaml 73.9% 75.2% 65/88 1
KLHL24-Related_Hypertrophic_Cardiomyopathy.yaml 73.9% 77.2% 167/226
DSP_Cardiomyopathy.yaml 73.9% 77.2% 51/69 1
Neurodevelopmental_Disorder_With_Dysmorphic_Facies_Sleep_Disturbance_And_Brain_Abnormalities.yaml 73.9% 76.5% 278/376 1
Rajab_Interstitial_Lung_Disease_With_Brain_Calcifications_1.yaml 74.0% 75.2% 71/96
Coronary_Artery_Disease.yaml 74.0% 74.3% 148/200 2
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_123.yaml 74.0% 76.0% 57/77
DNM1_Encephalopathy.yaml 74.1% 74.8% 80/108 2
SNF8-Related_Neurodevelopmental_Disorder.yaml 74.1% 78.2% 103/139
Aflatoxin_Related_HCC.yaml 74.1% 75.6% 172/232
STXBP1_Encephalopathy.yaml 74.1% 76.0% 109/147 2
Gastric_Cancer_H_pylori_Associated.yaml 74.2% 77.8% 89/120
Methylmalonic_Acidemia_With_Homocystinuria_Type_cblJ.yaml 74.2% 74.3% 112/151 1
Cervical_Cancer.yaml 74.2% 76.0% 92/124
STX1B-Related_Epilepsy.yaml 74.2% 74.6% 69/93 2
Small_Cell_Lung_Cancer.yaml 74.2% 77.0% 92/124
Epidemic_Typhus.yaml 74.2% 75.9% 98/132
Febrile_Infection-Related_Epilepsy_Syndrome.yaml 74.3% 77.0% 110/148 1
ORAI1_Deficiency.yaml 74.4% 76.7% 90/121
ADPRS-Related_Stress-Induced_Neurodegeneration.yaml 74.4% 76.2% 230/309 1
MMADHC-related_Disorder_of_Cobalamin_Metabolism_cblD_Type.yaml 74.5% 74.4% 73/98 1
Laryngeal_Squamous_Cell_Carcinoma.yaml 74.6% 78.3% 85/114
SURF1-Related_Leigh_Syndrome.yaml 74.8% 77.5% 80/107 2
Pyridoxine-Dependent_Epilepsy.yaml 74.8% 76.2% 83/111 2
Thanatophoric_Dysplasia_Type_1.yaml 74.8% 76.5% 166/222
Neurodevelopmental_Disorder_with_Hearing_Loss_and_Spasticity.yaml 74.8% 77.5% 199/266
Immunodeficiency_81.yaml 74.8% 77.3% 116/155
Cutaneous_Squamous_Cell_Carcinoma.yaml 75.0% 78.1% 75/100
Israeli_Tick_Typhus.yaml 75.0% 77.3% 96/128
KRAS_G12C_Mutant_NSCLC.yaml 75.0% 77.0% 63/84 1
Hypoplastic_Left_Heart_Syndrome.yaml 75.1% 76.5% 151/201
Digitalis_Poisoning.yaml 75.2% 76.8% 152/202 1
KCNQ2_Developmental_and_Epileptic_Encephalopathy.yaml 75.3% 76.9% 73/97 2
Rh_Deficiency_Syndrome.yaml 75.3% 77.1% 67/89
Syphilis.yaml 75.3% 76.9% 198/263
MSI_High_Endometrial_Cancer.yaml 75.3% 77.4% 64/85 1
Jeune_Asphyxiating_Thoracic_Dystrophy.yaml 75.3% 76.9% 125/166
Drug_or_Toxin-Induced_Pulmonary_Arterial_Hypertension.yaml 75.3% 77.0% 61/81 2
Gallbladder_Cancer.yaml 75.3% 78.7% 110/146
Central_Nervous_System_Germ_Cell_Tumor.yaml 75.4% 73.6% 159/211 2
Cervical_Squamous_Cell_Carcinoma.yaml 75.4% 78.9% 52/69
Heyn-Sproul-Jackson_syndrome.yaml 75.4% 77.7% 52/69 1
Pediatric_Autoimmune_Neuropsychiatric_Disorders_Associated_With_Streptococcal_Infections.yaml 75.4% 76.9% 43/57
Hepatocellular_Carcinoma.yaml 75.5% 74.9% 249/330 3
Immunodeficiency_70.yaml 75.5% 77.6% 37/49
DHRSX-Congenital_Disorder_of_Glycosylation.yaml 75.5% 77.2% 108/143
Diffuse_Astrocytoma.yaml 75.5% 79.9% 71/94
SYN1-Related_Disorder.yaml 75.6% 80.0% 34/45
Gerstmann-Straussler-Scheinker_Syndrome.yaml 75.6% 78.7% 96/127 1
Mixed_Connective_Tissue_Disease.yaml 75.6% 80.1% 31/41
Constitutional_Megaloblastic_Anemia_With_Severe_Neurologic_Disease.yaml 75.6% 77.5% 59/78
Neurodevelopmental_Disorder_With_Absent_Speech_And_Movement_And_Behavioral_Abnormalities.yaml 75.7% 78.6% 137/181
Ankylosing_Spondylitis.yaml 75.7% 77.5% 159/210 2
Charcot-Marie-Tooth_Disease-Hearing_Loss-Intellectual_Disability_Syndrome.yaml 75.8% 80.1% 47/62
Glioblastoma_IDH_Wildtype.yaml 75.8% 76.3% 116/153 1
Progressive_Myoclonus_Epilepsy.yaml 75.9% 77.8% 66/87 1
Renal_Tubular_Acidosis_Distal_3_With_Or_Without_Sensorineural_Hearing_Loss.yaml 75.9% 76.7% 110/145 1
KCNB1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 75.9% 78.3% 107/141 2
Emanuel_Syndrome.yaml 75.9% 77.8% 85/112
Gorham-Stout_disease.yaml 75.9% 79.2% 41/54 1
Myoclonic_Epilepsy_in_Infancy.yaml 76.0% 77.9% 79/104
PARK7-Related_Early-Onset_Parkinson_Disease.yaml 76.0% 75.8% 158/208 2
Opioid_Use_Disorder.yaml 76.0% 75.8% 313/412 2
Postural_Orthostatic_Tachycardia_Syndrome.yaml 76.0% 77.3% 155/204
Kawasaki_Disease.yaml 76.0% 77.3% 329/433 1
Chromosome_16p12.2-p11.2_Deletion_Syndrome.yaml 76.0% 77.7% 38/50
SCN8A-Related_Developmental_and_Epileptic_Encephalopathy.yaml 76.0% 78.5% 73/96
KINSSHIP_Syndrome.yaml 76.1% 77.7% 54/71
Spondyloepimetaphyseal_Dysplasia_Guo-Campeau_Type.yaml 76.1% 78.4% 54/71
COVID-19.yaml 76.1% 77.6% 169/222 2
HPV_Positive_Head_and_Neck_Cancer.yaml 76.1% 77.2% 67/88 1
PCWH_syndrome.yaml 76.2% 80.1% 64/84 1
Generalized_Anxiety_Disorder.yaml 76.2% 78.5% 93/122
Autosomal_Dominant_Robinow_Syndrome_2.yaml 76.2% 78.1% 77/101
Spotted_Fever_Rickettsiosis.yaml 76.3% 76.8% 129/169
Aicardi_Syndrome.yaml 76.4% 79.7% 113/148
PRR12-Related_Neuroocular_Syndrome.yaml 76.4% 78.3% 236/309
Immunodeficiency_65_IRF9_Deficiency.yaml 76.5% 77.4% 65/85
Merkel_Cell_Carcinoma.yaml 76.5% 78.0% 75/98 1
Indian_Tick_Typhus.yaml 76.6% 79.0% 95/124
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_14.yaml 76.7% 76.2% 92/120
Pituitary_Tumor.yaml 76.7% 80.7% 46/60
Chromosome_18p_Deletion_Syndrome.yaml 76.7% 80.3% 89/116
HOXC13_Ectodermal_Dysplasia.yaml 76.7% 78.0% 89/116
Oral_Cavity_Squamous_Cell_Carcinoma.yaml 76.7% 79.0% 99/129
Verruga_Peruana.yaml 76.7% 78.6% 66/86
Charcot-Marie-Tooth_Disease_Axonal_Type_2Z.yaml 76.9% 78.1% 103/134
Childhood_Occipital_Visual_Epilepsy.yaml 76.9% 79.0% 103/134
Dihydropyrimidine_Dehydrogenase_Deficiency.yaml 76.9% 78.3% 103/134
Dyskeratosis_Congenita_Autosomal_Recessive_6.yaml 76.9% 79.1% 113/147
Antisocial_Personality_Disorder.yaml 76.9% 77.0% 50/65 2
Chondrodysplasia_With_Joint_Dislocations_gPAPP_Type.yaml 76.9% 79.1% 60/78 1
KDM6B-Related_Neurodevelopmental_Disorder.yaml 77.0% 79.5% 224/291
Triple_Negative_Breast_Cancer.yaml 77.0% 79.9% 87/113
STIM1_Deficiency.yaml 77.0% 79.0% 164/213
Central_Areolar_Choroidal_Dystrophy.yaml 77.0% 81.1% 67/87
Clear_Cell_Renal_Cell_Carcinoma.yaml 77.0% 79.5% 94/122 1
Stiff_Skin_Syndrome.yaml 77.1% 79.2% 74/96
Bazex_Dupre_Christol_Syndrome.yaml 77.1% 78.7% 108/140
Flea_Borne_Spotted_Fever.yaml 77.2% 79.5% 71/92
DOCK2_Deficiency.yaml 77.2% 79.0% 115/149
Spastic_Paraplegia_81.yaml 77.2% 79.6% 88/114
Gastric_Ulcer.yaml 77.3% 74.6% 17/22
Robinow_Syndrome_Autosomal_Recessive_2.yaml 77.4% 79.6% 41/53
Endometriosis.yaml 77.4% 79.1% 175/226 1
Atypical_Hemolytic_Uremic_Syndrome.yaml 77.5% 78.0% 248/320
Trichotillomania.yaml 77.5% 78.8% 62/80
Gambling_Disorder.yaml 77.6% 79.9% 45/58
Paraneoplastic_Cerebellar_Degeneration.yaml 77.6% 79.0% 149/192
Cervical_Adenocarcinoma.yaml 77.6% 80.6% 52/67
Colobomatous_Microphthalmia-Rhizomelic_Dysplasia_Syndrome.yaml 77.6% 79.2% 52/67
Hearing_Loss_Autosomal_Recessive_108.yaml 77.7% 78.2% 73/94 1
Alport_Syndrome.yaml 77.7% 78.1% 240/309 1
HER2_Positive_Breast_Cancer.yaml 77.7% 77.5% 80/103 2
Peripartum_Cardiomyopathy.yaml 77.7% 79.2% 80/103
TP63_Ectodermal_Dysplasia_Spectrum.yaml 77.7% 80.9% 87/112 1
Placenta_Previa.yaml 77.7% 78.1% 164/211 2
CCN2-Related_Kyphomelic_Dysplasia.yaml 77.8% 80.9% 56/72
Cardiomyopathy_Dilated_2E.yaml 77.8% 79.2% 56/72
Combined_Oxidative_Phosphorylation_Deficiency_34.yaml 77.8% 79.3% 98/126
Epithelioid_Sarcoma.yaml 77.8% 79.8% 56/72 1
Focal_Segmental_Glomerulosclerosis.yaml 77.8% 79.2% 203/261 1
Hand-Foot-Genital_Syndrome.yaml 77.8% 79.0% 49/63
Mitochondrial_Complex_V_ATP_Synthase_Deficiency_Nuclear_Type_3.yaml 77.8% 78.9% 126/162
Neuroblastoma.yaml 77.8% 79.5% 84/108 1
Peroxisome_Biogenesis_Disorder_3A_Zellweger.yaml 77.8% 78.6% 105/135 1
Rhizomelic_Dysplasia_Ain-Naz_Type.yaml 77.8% 80.1% 126/162
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_32.yaml 77.9% 78.4% 116/149
Viral_Encephalitis.yaml 77.9% 79.5% 116/149
SYNGAP1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 77.9% 79.7% 95/122 2
Volumetric_Muscle_Loss.yaml 77.9% 80.4% 95/122 1
Neurofibroma.yaml 77.9% 81.5% 74/95
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_24.yaml 77.9% 78.0% 53/68
Deficiency_of_Adenosine_Deaminase_2.yaml 78.0% 80.7% 92/118
Warburg_Micro_Syndrome.yaml 78.0% 80.2% 138/177
Hypertensive_Heart_Disease.yaml 78.0% 76.8% 199/255 1
Mitochondrial_Spastic_Paraplegia.yaml 78.1% 80.1% 57/73
Spinal_Muscular_Atrophy.yaml 78.1% 79.7% 211/270 3
SOCS1_Haploinsufficiency.yaml 78.2% 80.1% 93/119
Renal_Cell_Carcinoma.yaml 78.2% 78.0% 136/174 2
Autosomal_Dominant_Optic_Atrophy_Plus.yaml 78.3% 80.0% 72/92 1
KATNB1-related_Cortical_Malformation.yaml 78.3% 81.8% 90/115 2
Spondyloepimetaphyseal_Dysplasia_Krakow_Type.yaml 78.3% 81.1% 54/69
Contractures_Pterygia_and_Spondylocarpotarsal_Fusion_Syndrome_1A.yaml 78.3% 80.3% 83/106
Granular_Cell_Tumor.yaml 78.3% 80.8% 65/83
Campomelic_Dysplasia.yaml 78.3% 80.4% 112/143
Gastroenteropancreatic_Neuroendocrine_Neoplasm.yaml 78.4% 82.1% 105/134
Antley-Bixler_Syndrome_FGFR2-Related.yaml 78.4% 80.8% 58/74
Sickle_Cell_Disease.yaml 78.4% 78.6% 214/273
Chronic_Myeloid_Leukemia.yaml 78.4% 79.3% 120/153 2
Hemicrania_Continua.yaml 78.4% 79.9% 80/102
Pneumococcal_Pneumonia.yaml 78.4% 80.1% 40/51
TMLHE_Deficiency.yaml 78.4% 80.7% 80/102
Noise_Induced_Hearing_Loss.yaml 78.5% 79.3% 113/144
Autosomal_Recessive_Spastic_Ataxia_9.yaml 78.5% 80.6% 194/247
Mycoplasma_Pneumoniae_Pneumonia.yaml 78.6% 81.8% 33/42
Neutral_Lipid_Storage_Myopathy.yaml 78.6% 81.7% 44/56
Osteogenesis_Imperfecta_Type_I.yaml 78.6% 81.0% 88/112
Peroxisome_Biogenesis_Disorder_2B.yaml 78.6% 79.0% 121/154 1
Respiratory_Syncytial_Virus_Infection.yaml 78.6% 81.3% 44/56
Huntington_Disease.yaml 78.6% 78.3% 621/790 4
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_11.yaml 78.6% 79.8% 125/159
Human_Monocytic_Ehrlichiosis.yaml 78.6% 80.5% 114/145
Gonorrhea.yaml 78.6% 78.9% 162/206 1
Mesomelia-Synostoses_Syndrome.yaml 78.7% 80.4% 37/47
FILS_Syndrome.yaml 78.8% 81.6% 63/80
IDH_Mutant_Oligodendroglioma.yaml 78.8% 80.3% 89/113 1
Dyskeratosis_Congenita_Autosomal_Recessive_2.yaml 78.8% 80.5% 141/179
Coffin-Lowry_Syndrome.yaml 78.8% 80.0% 52/66
IMAGe_Syndrome.yaml 78.8% 81.2% 78/99
Mesomelic_Dysplasia_Savarirayan_Type.yaml 78.8% 79.5% 52/66
Coarctation_of_the_Aorta.yaml 78.8% 80.1% 145/184
Combined_Immunodeficiency_Due_To_CTPS1_Deficiency.yaml 78.8% 80.9% 93/118
KRT74_Ectodermal_Dysplasia.yaml 78.8% 82.2% 41/52
Oculopharyngodistal_Myopathy.yaml 78.8% 80.7% 82/104 1
Periodontitis.yaml 78.8% 80.3% 123/156 1
Familial_Hypocalciuric_Hypercalcemia_1.yaml 78.9% 79.8% 97/123
REM_Sleep_Behavior_Disorder.yaml 78.9% 81.1% 56/71
SQSTM1-Related_Childhood-Onset_Neurodegeneration.yaml 78.9% 79.8% 168/213 1
Fontaine_Progeroid_Syndrome.yaml 78.9% 81.0% 254/322
DONSON-Related_Microcephalic_Primordial_Dwarfism.yaml 78.9% 80.0% 71/90
Langer_Mesomelic_Dysplasia.yaml 78.9% 80.5% 86/109
EDAR_Hypohidrotic_Ectodermal_Dysplasia.yaml 78.9% 80.6% 116/147
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_70.yaml 78.9% 79.6% 75/95
Nocardiosis.yaml 78.9% 80.6% 120/152
Queensland_Tick_Typhus.yaml 78.9% 80.3% 90/114 1
Sarcoma_Of_Cervix_Uteri.yaml 78.9% 83.1% 75/95
Spondyloepimetaphyseal_Dysplasia_Aggrecan_Type.yaml 79.0% 80.9% 109/138
Usher_Syndrome_Type_4.yaml 79.0% 80.1% 94/119 1
EDARADD_Hypohidrotic_Ectodermal_Dysplasia.yaml 79.0% 81.1% 79/100
Pigment_Dispersion_Syndrome.yaml 79.0% 80.5% 79/100
Neurodevelopmental_Disorder_with_Early-Onset_Parkinsonism_and_Behavioral_Abnormalities.yaml 79.0% 80.4% 207/262
Balkan_Endemic_Nephropathy.yaml 79.0% 81.1% 64/81
Autosomal_Dominant_Robinow_Syndrome_3.yaml 79.0% 79.9% 305/386
Cornelia_de_Lange_Syndrome_1.yaml 79.0% 80.7% 113/143
Cholangiocarcinoma.yaml 79.0% 80.5% 83/105
SNAP25_Encephalopathy.yaml 79.0% 79.4% 83/105 2
CASQ2_CPVT.yaml 79.1% 79.0% 317/401 1
Familial_Visceral_Neuropathy_2.yaml 79.1% 80.5% 68/86
GABRG2-Related_Epilepsy.yaml 79.1% 81.8% 102/129 1
Human_Granulocytic_Anaplasmosis.yaml 79.1% 80.7% 102/129
Drug-Induced_Methemoglobinemia.yaml 79.1% 79.4% 87/110
Short_Stature_Microcephaly_and_Endocrine_Dysfunction.yaml 79.1% 81.3% 53/67
Immunodeficiency_69.yaml 79.1% 80.0% 125/158 1
Hereditary_Spastic_Paraplegia_48.yaml 79.2% 83.0% 38/48
Human_Metapneumovirus_Infection.yaml 79.2% 81.5% 38/48
KIT_Mutant_Melanoma.yaml 79.2% 81.5% 76/96
STAT2_Deficiency.yaml 79.2% 82.0% 38/48
KIF5B-Related_Kyphomelic_Dysplasia.yaml 79.2% 82.5% 42/53
Skin_Fragility_Woolly_Hair_Syndrome.yaml 79.2% 82.7% 42/53
Miller-Dieker_Lissencephaly_Syndrome.yaml 79.3% 81.6% 107/135 1
Immunodeficiency_80_with_or_without_Congenital_Cardiomyopathy.yaml 79.3% 80.6% 111/140
Developmental_and_Epileptic_Encephalopathy_55.yaml 79.3% 80.7% 96/121
Fibrolamellar_Hepatocellular_Carcinoma.yaml 79.3% 79.7% 169/213 2
Rheumatoid_Arthritis.yaml 79.3% 79.9% 388/489 5
Glycoprotein_Storage_Disease.yaml 79.4% 82.0% 50/63
Osteogenesis_Imperfecta_Type_XXIII.yaml 79.4% 82.4% 50/63 1
Benign_Prostatic_Hyperplasia.yaml 79.4% 81.2% 77/97 1
Distal_Hereditary_Motor_Neuronopathy_Autosomal_Recessive.yaml 79.4% 81.6% 77/97
Immunodeficiency_86.yaml 79.4% 82.0% 77/97
Primary_Bile_Acid_Malabsorption.yaml 79.4% 80.7% 104/131
Hearing_Loss_Autosomal_Dominant_83.yaml 79.4% 79.7% 81/102
Silicosis.yaml 79.4% 81.6% 112/141
Natural_Killer_Cell_and_Glucocorticoid_Deficiency_with_DNA_Repair_Defect.yaml 79.4% 80.9% 85/107
Snijders_Blok-Campeau_Syndrome.yaml 79.5% 82.1% 116/146
Rickettsialpox.yaml 79.5% 81.7% 66/83
Crohn_Disease.yaml 79.6% 79.6% 354/445 4
Boutonneuse_Fever.yaml 79.6% 81.2% 179/225
Osteoglophonic_Dysplasia.yaml 79.6% 82.6% 113/142
Mabry_Syndrome.yaml 79.6% 82.3% 152/191 1
Charcot-Marie-Tooth_Disease_Dominant_Intermediate_G.yaml 79.6% 80.6% 117/147
Sennetsu_Fever.yaml 79.6% 81.7% 78/98 1
Pheochromocytoma_Paraganglioma.yaml 79.6% 80.7% 359/451
Autoimmune_Gastritis.yaml 79.6% 80.5% 121/152
Plague.yaml 79.6% 83.0% 82/103
Encephalopathy_Due_To_Defective_Mitochondrial_And_Peroxisomal_Fission_2.yaml 79.6% 81.3% 90/113
SDHA-Related_Neurodegeneration_With_Ataxia_And_Optic_Atrophy.yaml 79.6% 81.6% 180/226
Secondary_Hypertension.yaml 79.7% 83.5% 47/59
Cardiomyopathy_Dilated_2J.yaml 79.7% 79.8% 98/123
Mitral_Valve_Prolapse.yaml 79.7% 81.7% 98/123
Alpha_Thalassemia.yaml 79.7% 81.6% 114/143
KMT2B-Related_Dystonia.yaml 79.7% 80.1% 181/227 1
Combined_Immunodeficiency_Due_To_Moesin_Deficiency.yaml 79.7% 81.6% 63/79
Testicular_Germ_Cell_Tumor.yaml 79.8% 82.9% 67/84
Generalized_Epilepsy_with_Febrile_Seizures_Plus.yaml 79.8% 80.9% 138/173 1
Chronic_Intestinal_Pseudoobstruction.yaml 79.8% 82.9% 71/89
Hutchinson-Gilford_Progeria_Syndrome.yaml 79.8% 81.7% 71/89
Restless_Legs_Syndrome.yaml 79.8% 81.1% 71/89
Frontotemporal_Dementia.yaml 79.8% 80.6% 75/94 1
Ethylene_Glycol_Poisoning.yaml 79.8% 81.1% 83/104
Immunodeficiency_118.yaml 79.8% 81.5% 99/124 1
Multiple_Sulfatase_Deficiency.yaml 79.8% 80.5% 198/248
Chronic_Beryllium_Disease.yaml 79.9% 83.0% 111/139
Nerve_Agent_Poisoning.yaml 79.9% 80.3% 115/144
Inherited_Aplastic_Anemia.yaml 79.9% 82.1% 123/154
SLC44A1-Related_Childhood-Onset_Neurodegeneration.yaml 79.9% 80.7% 135/169 1
FAM111A-Related_Skeletal_Dysplasia.yaml 79.9% 81.2% 147/184
Actinomycosis.yaml 80.0% 81.7% 116/145
Bleeding_Disorder_Platelet-type_21.yaml 80.0% 82.6% 80/100
Cocaine_Intoxication.yaml 80.0% 81.1% 196/245
Coronary_Artery_Congenital_Malformation.yaml 80.0% 82.8% 108/135
Craniofacial_Anomalies_And_Anterior_Segment_Dysgenesis_Syndrome.yaml 80.0% 81.3% 68/85
Duane_Radial_Ray_Syndrome.yaml 80.0% 81.9% 140/175
FGF12-Related_Developmental_and_Epileptic_Encephalopathy.yaml 80.0% 81.6% 80/100
GYG1-related_Disorder_Of_Glycogen_Metabolism.yaml 80.0% 82.4% 72/90
IKK2_Deficiency.yaml 80.0% 81.1% 60/75 1
Periodic_Fever_Immunodeficiency_and_Thrombocytopenia_Syndrome.yaml 80.0% 80.8% 116/145
Pitt-Hopkins_Syndrome.yaml 80.0% 83.0% 56/70
Progressive_External_Ophthalmoplegia_With_Mitochondrial_DNA_Deletions_Autosomal_Recessive_4.yaml 80.0% 81.2% 112/140
Psoriasis_14_Pustular.yaml 80.0% 82.1% 52/65
STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml 80.0% 81.9% 52/65
Type_I_Diabetes.yaml 80.0% 79.2% 300/375 7
Stickler_Syndrome_Type_1.yaml 80.1% 81.6% 141/176 1
Neuromyelitis_Optica_Spectrum_Disorder_with_Anti-AQP4_Antibodies.yaml 80.1% 81.3% 117/146 1
Atopic_Dermatitis.yaml 80.2% 80.9% 194/242 3
Siddiqi_Syndrome.yaml 80.2% 81.7% 81/101
Polycystic_Ovary_Syndrome.yaml 80.2% 81.4% 235/293 1
Cohen_Syndrome.yaml 80.2% 82.0% 77/96
Immunodeficiency_79.yaml 80.2% 82.1% 73/91
NPM1_Mutant_AML.yaml 80.2% 81.8% 73/91 1
Idiopathic_Hypersomnia.yaml 80.2% 81.6% 69/86
TUBB8-related_Oocyte_Maturation_Defect.yaml 80.3% 80.9% 126/157 1
Multiple_Mitochondrial_Dysfunctions_Syndrome_6.yaml 80.3% 81.1% 122/152
Osteogenesis_Imperfecta_Type_XXI.yaml 80.3% 83.5% 61/76 1
Charcot-Marie-Tooth_Disease_Demyelinating_Type_1G.yaml 80.3% 81.6% 110/137
KCNA2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 80.3% 82.1% 110/137 2
Hepatitis_E.yaml 80.3% 82.5% 53/66
Hydrops-Lactic_Acidosis-Sideroblastic_Anemia-Multisystemic_Failure_Syndrome.yaml 80.3% 81.9% 106/132
Autosomal_Dominant_Osteopetrosis_Type_II.yaml 80.3% 82.0% 102/127
Stickler_Syndrome_Type_5.yaml 80.3% 81.5% 102/127
Osteogenesis_Imperfecta_Type_II.yaml 80.3% 82.5% 98/122 1
Autoimmune_Retinopathy.yaml 80.3% 81.0% 94/117
Photosensitive_Occipital_Lobe_Epilepsy.yaml 80.3% 82.2% 94/117
Platelet-type_Bleeding_Disorder_22.yaml 80.3% 81.1% 94/117 1
X-linked_Dominant_Chondrodysplasia_Chassaing-Lacombe_Type.yaml 80.3% 81.0% 94/117
Mobitz_Type_I_Atrioventricular_Block.yaml 80.4% 83.6% 45/56
Autosomal_Dominant_Robinow_Syndrome_1.yaml 80.4% 81.1% 217/270
Pneumococcal_Meningitis.yaml 80.4% 82.4% 86/107
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_115.yaml 80.4% 81.2% 82/102
Dermoid_Cyst.yaml 80.4% 82.9% 82/102
Infantile-Onset_Multisystem_Neurologic_Endocrine_and_Pancreatic_Disease.yaml 80.4% 81.9% 123/153
Severe_Combined_Immunodeficiency_Due_To_CARD11_Deficiency.yaml 80.4% 82.2% 82/102
COPA_Syndrome.yaml 80.4% 81.7% 185/230
Glycogen_Storage_Disease_Due_To_Lactate_Dehydrogenase_M-subunit_Deficiency.yaml 80.4% 81.5% 111/138
Isolated_Growth_Hormone_Deficiency.yaml 80.4% 82.8% 148/184 2
TACO1-Related_COX_Deficiency.yaml 80.4% 83.9% 37/46
CCDC115-CDG.yaml 80.5% 81.9% 107/133
Thyroid_Dyshormonogenesis_5.yaml 80.5% 83.1% 70/87
IgA_Pemphigus.yaml 80.5% 82.7% 103/128
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_104.yaml 80.5% 82.4% 99/123
Lymphogranuloma_Venereum.yaml 80.5% 82.9% 66/82
Stankiewicz_Isidor_syndrome.yaml 80.5% 82.7% 66/82
3-hydroxyacyl-CoA_Dehydrogenase_Deficiency.yaml 80.5% 82.3% 128/159
NAGA_Deficiency_Type_3.yaml 80.5% 83.0% 62/77
PHF21A_Related_Neurodevelopmental_Disorder.yaml 80.5% 81.9% 120/149
ISCU_Myopathy.yaml 80.5% 80.5% 149/185 2
Charcot-Marie-Tooth_Disease_Type_2B2.yaml 80.6% 81.5% 112/139
Immunodeficiency_85_And_Autoimmunity.yaml 80.6% 81.6% 108/134 1
Juvenile_Myoclonic_Epilepsy.yaml 80.6% 81.7% 79/98 1
RHYNS_Syndrome.yaml 80.6% 81.7% 104/129
ALG2-Congenital_Disorder_of_Glycosylation.yaml 80.6% 81.8% 129/160
Chorioamnionitis.yaml 80.6% 81.0% 200/248 1
Chromosome_17q12_Duplication_Syndrome.yaml 80.7% 82.4% 146/181
Immunodeficiency_60.yaml 80.7% 80.9% 192/238
Stickler_Syndrome_Type_4.yaml 80.7% 81.2% 117/145
MOGS-Congenital_Disorder_of_Glycosylation.yaml 80.7% 81.8% 184/228
Bladder_Urothelial_Carcinoma.yaml 80.7% 83.2% 88/109 1
Flinders_Island_Spotted_Fever.yaml 80.7% 82.6% 88/109
NDE1-related_Microcephaly_Lissencephaly.yaml 80.7% 83.9% 88/109 2
Glioma.yaml 80.7% 82.6% 109/135
Placenta_Accreta_Spectrum.yaml 80.8% 81.6% 63/78 1
Filippi_Syndrome.yaml 80.8% 82.9% 164/203 1
Minimal_Change_Disease.yaml 80.8% 81.6% 164/203
IRF2BPL-Related_Neurodevelopmental_Disorder_with_Regression.yaml 80.8% 81.6% 202/250
MYPN-Related_Cardiomyopathy.yaml 80.8% 82.2% 139/172
Charcot-Marie-Tooth_Disease_Axonal_Type_2P.yaml 80.8% 81.8% 118/146 1
MSI_High_Colorectal_Cancer.yaml 80.8% 82.8% 97/120
Muckle-Wells_Syndrome.yaml 80.8% 83.9% 97/120
Optic_Atrophy_14.yaml 80.9% 82.0% 76/94
Type_2_Diabetes_Mellitus.yaml 80.9% 81.9% 266/329 2
Crouzon_Syndrome_with_Acanthosis_Nigricans.yaml 80.9% 84.2% 93/115
Immunodeficiency_14B_Autosomal_Recessive.yaml 80.9% 82.5% 93/115
Chromosome_18q_Deletion_Syndrome.yaml 80.9% 83.8% 89/110
Infantile_Cerebellar-Retinal_Degeneration.yaml 80.9% 82.2% 89/110
Infantile_Spasms.yaml 80.9% 81.4% 140/173 1
COXFA4-Related_COX_Deficiency.yaml 81.0% 83.2% 34/42
Charcot-Marie-Tooth_Disease_Axonal_Autosomal_Recessive_Type_2A2B.yaml 81.0% 81.8% 119/147
Developmental_Stuttering.yaml 81.0% 82.4% 68/84
Intermittent_Explosive_Disorder.yaml 81.0% 82.4% 68/84
Saul-Wilson_Syndrome.yaml 81.0% 82.9% 119/147
CEDNIK_Syndrome.yaml 81.0% 82.4% 285/352
Hereditary_Spherocytosis.yaml 81.0% 83.1% 183/226
Myoclonus_Dystonia_Syndrome.yaml 81.0% 82.6% 132/163
X-linked_Syndromic_Intellectual_Disability_Turner_Type.yaml 81.0% 82.5% 132/163
Pulmonary_Alveolar_Microlithiasis.yaml 81.0% 82.9% 98/121
LRRK2-Related_Parkinson_Disease.yaml 81.0% 82.0% 81/100 2
Leukoencephalopathy_Progressive_Infantile-onset_With_Or_Without_Deafness.yaml 81.0% 83.3% 81/100
Coronary_Arterial_Fistulas.yaml 81.0% 82.5% 47/58 1
PNPO_Deficiency.yaml 81.0% 81.8% 94/116 2
angioosteohypertrophic_syndrome.yaml 81.0% 84.0% 47/58
Psoriasis.yaml 81.0% 83.0% 201/248 1
X-Linked_Spondyloepiphyseal_Dysplasia_Tarda.yaml 81.1% 82.1% 77/95
Myhre_Syndrome.yaml 81.1% 83.1% 137/169 1
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_34.yaml 81.1% 80.9% 90/111 1
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_31.yaml 81.1% 82.4% 73/90
Cor_Pulmonale.yaml 81.1% 83.7% 73/90 1
Progressive_Cardiac_Conduction_Disease.yaml 81.1% 85.0% 43/53
capillary_leak_syndrome.yaml 81.1% 82.4% 43/53
Thoracic_Aortic_Aneurysm.yaml 81.1% 81.2% 142/175
FGFR2-Related_Bent_Bone_Dysplasia.yaml 81.1% 83.5% 99/122
African_Tick-Bite_Fever.yaml 81.2% 82.4% 82/101 1
Myopathic_Ehlers-Danlos_Syndrome.yaml 81.2% 83.2% 95/117
Torsion_Dystonia_6.yaml 81.2% 81.7% 108/133
Ewing_Sarcoma.yaml 81.2% 80.7% 471/580 2
Mast_Cell_Activation_Syndrome.yaml 81.2% 83.2% 104/128
Middle_East_Respiratory_Syndrome.yaml 81.2% 82.5% 65/80
Multiple_Epiphyseal_Dysplasia_Al-Gazali_Type.yaml 81.2% 84.0% 39/48
Propofol_Infusion_Syndrome.yaml 81.2% 82.7% 104/128
Fanconi_Anemia.yaml 81.3% 82.8% 1192/1467
Sclerosing_Cholangitis.yaml 81.3% 83.0% 174/214
Chagas_Disease.yaml 81.3% 80.9% 148/182 1
Intrahepatic_Cholestasis_of_Pregnancy.yaml 81.3% 83.3% 74/91 1
Congenital_Disorder_of_Glycosylation_Type_IIr.yaml 81.3% 82.7% 122/150
Fallopian_Tube_Cancer.yaml 81.3% 83.5% 61/75
Focal_Dermal_Hypoplasia.yaml 81.3% 83.9% 122/150
HFM1-related_gametogenic_failure.yaml 81.4% 84.0% 48/59
Small_Intestine_Cancer.yaml 81.4% 84.6% 96/118
Tooth_Agenesis.yaml 81.4% 83.2% 144/177
Vulvodynia.yaml 81.4% 82.1% 131/161 1
Reelin_Pathway_Lissencephaly.yaml 81.4% 83.7% 83/102 1
MAN2C1-congenital_disorder_of_deglycosylation_2.yaml 81.4% 84.8% 35/43
Immunodeficiency_122.yaml 81.4% 83.8% 127/156
Mucolipidosis_Type_II.yaml 81.4% 83.5% 92/113
Schwannomatosis.yaml 81.4% 82.2% 92/113 1
Japanese_Spotted_Fever.yaml 81.4% 83.5% 79/97
Chiari_Malformation_Type_I.yaml 81.5% 81.7% 101/124
Typhoid_Fever.yaml 81.5% 83.0% 101/124
Bryant-Li-Bhoj_Neurodevelopmental_Syndrome_2.yaml 81.5% 83.4% 290/356
LAT_Deficiency.yaml 81.5% 83.1% 233/286
Chromophobe_Renal_Cell_Carcinoma.yaml 81.5% 82.6% 141/173
Juvenile_Absence_Epilepsy.yaml 81.5% 83.4% 128/157 1
Leukocyte_Adhesion_Deficiency_Type_II.yaml 81.5% 82.6% 106/130
Microcephalic_Osteodysplastic_Primordial_Dwarfism_Type_II.yaml 81.5% 84.0% 159/195
Ulcerative_Colitis.yaml 81.5% 81.8% 243/298 3
Terminal_Osseous_Dysplasia.yaml 81.6% 83.7% 84/103
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_26.yaml 81.6% 82.8% 146/179
Multiple_Mitochondrial_Dysfunctions_Syndrome_9B.yaml 81.6% 82.5% 208/255
COA8-Related_COX_Deficiency.yaml 81.6% 83.8% 62/76
Chronic_Insomnia_Disorder.yaml 81.6% 82.1% 62/76
Dyskeratosis_Congenita_Autosomal_Recessive_8.yaml 81.6% 82.7% 93/114
Kearns-Sayre_Syndrome.yaml 81.6% 83.5% 155/190
Postpartum_Depression.yaml 81.6% 83.4% 124/152
Systemic_Sclerosis.yaml 81.6% 84.4% 93/114
Trachoma.yaml 81.6% 79.4% 31/38
FOXG1_Disorder.yaml 81.6% 83.6% 195/239
Charcot-Marie-Tooth_Disease_Type_4C.yaml 81.6% 82.3% 164/201
X-Linked_Infantile_Spinal_Muscular_Atrophy.yaml 81.6% 82.4% 173/212 1
Hallermann-Streiff_Syndrome.yaml 81.6% 83.6% 71/87
Charcot-Marie-Tooth_Disease_Type_1E.yaml 81.6% 83.8% 111/136
Cystic_Leukoencephalopathy_Without_Megalencephaly.yaml 81.6% 83.2% 111/136
KRT85_Ectodermal_Dysplasia.yaml 81.6% 84.4% 40/49
Septicemic_Plague.yaml 81.6% 84.6% 40/49
Pendred_Syndrome.yaml 81.7% 81.6% 138/169 1
Catamenial_Pneumothorax.yaml 81.7% 83.2% 98/120
Leri-Weill_Dyschondrosteosis.yaml 81.7% 83.9% 147/180
Hypertrophic_Cardiomyopathy_25.yaml 81.7% 83.8% 165/202
Familial_Progressive_Hyperpigmentation_With_Or_Without_Hypopigmentation.yaml 81.7% 82.7% 116/142
Reynolds_Syndrome.yaml 81.7% 83.1% 85/104
Periventricular_Nodular_Heterotopia_9.yaml 81.7% 83.6% 94/115
Spondylometaphyseal_Dysplasia_Schmidt_Type.yaml 81.7% 83.4% 103/126
Branchiooculofacial_Syndrome.yaml 81.8% 83.9% 130/159
Breast_Carcinoma.yaml 81.8% 83.1% 99/121 1
DOORS_Syndrome.yaml 81.8% 83.6% 90/110
Focal_Articular_Cartilage_Defect_of_the_Knee.yaml 81.8% 85.2% 54/66
Gastroesophageal_Reflux_Disease.yaml 81.8% 83.6% 81/99
Granuloma_Inguinale.yaml 81.8% 83.6% 54/66
IRIDA_Syndrome.yaml 81.8% 81.8% 144/176 2
Inherited_Ichthyosis.yaml 81.8% 83.9% 162/198
Inherited_Retinal_Dystrophy.yaml 81.8% 84.6% 81/99 1
Scurvy.yaml 81.8% 82.1% 36/44 1
TLR3_Deficiency.yaml 81.8% 81.0% 45/55 2
Ritscher-Schinzel_Syndrome_1.yaml 81.8% 83.6% 257/314
Myotonic_Dystrophy_Type_1.yaml 81.9% 83.3% 194/237 2
VPS4A-Related_Neurodevelopmental_Syndrome.yaml 81.9% 84.9% 176/215
Harderoporphyria.yaml 81.9% 82.8% 104/127 1
Rickettsia_Parkeri_Spotted_Fever.yaml 81.9% 82.8% 86/105 1
Solitary_Fibrous_Tumor.yaml 81.9% 83.6% 68/83
CHST3-Related_Skeletal_Dysplasia.yaml 82.0% 84.0% 218/266
UNC13A_NDD_with_Seizures_and_Movement_Disorder.yaml 82.0% 83.0% 109/133 2
Hereditary_Hemorrhagic_Telangiectasia_4.yaml 82.0% 83.0% 50/61
NAD_P_HX_Dehydratase_Deficiency.yaml 82.0% 81.9% 123/150 1
Global_Developmental_Delay_Progressive_Ataxia_and_Elevated_Glutamine.yaml 82.1% 83.9% 64/78
Spondyloepiphyseal_Dysplasia_Nishimura_Type.yaml 82.1% 82.8% 192/234
Hypoparathyroidism_Deafness_Renal_Disease_Syndrome.yaml 82.1% 83.3% 183/223
Von_Hippel-Lindau_Disease.yaml 82.1% 82.4% 119/145
Giant_Cell_Hepatitis_With_Autoimmune_Hemolytic_Anemia.yaml 82.1% 84.7% 87/106
Dorfman_Chanarin_Disease.yaml 82.1% 84.9% 55/67
Papillon-Lefevre_Disease.yaml 82.1% 83.7% 165/201
Saethre-Chotzen_Syndrome.yaml 82.1% 85.3% 55/67
Gorlin_Syndrome.yaml 82.1% 83.0% 298/363 1
Neurodevelopmental_Disorder_with_Dysmorphic_Facies_and_Distal_Skeletal_Anomalies.yaml 82.1% 83.3% 257/313
Podoconiosis.yaml 82.1% 81.4% 179/218 1
Platelet-type_Bleeding_Disorder_20.yaml 82.1% 84.2% 101/123
TUBGCP2-related_Lissencephaly_Spectrum_Disorder.yaml 82.1% 83.4% 147/179
Borrelia_Miyamotoi_Disease.yaml 82.1% 83.4% 69/84
Immunodeficiency_82_With_Systemic_Inflammation.yaml 82.1% 83.1% 115/140
Methylcobalamin_Deficiency_Type_cblG.yaml 82.1% 83.5% 115/140
Proximal_Tubulopathy-Diabetes_Mellitus-Cerebellar_Ataxia_Syndrome.yaml 82.1% 84.4% 69/84 1
Rhabdoid_Tumor_Predisposition_Syndrome_2.yaml 82.1% 83.7% 46/56
Paraquat_Poisoning.yaml 82.2% 83.5% 175/213
CHD8-Related_Neurodevelopmental_Disorder_with_Overgrowth.yaml 82.2% 82.4% 456/555 1
Ovarian_High-Grade_Serous_Carcinoma.yaml 82.2% 81.8% 226/275 2
Autism_Spectrum_Disorder-Epilepsy-Arthrogryposis_Syndrome.yaml 82.2% 84.5% 143/174
Immunodeficiency_49.yaml 82.2% 83.7% 203/247
Mesomelic_Dysplasia_Kantaputra_Type.yaml 82.2% 82.8% 60/73
Osmotic_Demyelination_Syndrome.yaml 82.2% 84.2% 60/73
Primary_Carnitine_Deficiency.yaml 82.2% 83.6% 157/191
Infantile_Cataract_Skin_Abnormalities_Glutamate_Excess_and_Impaired_Intellectual_Development.yaml 82.2% 83.7% 97/118
Ullrich_Congenital_Muscular_Dystrophy.yaml 82.2% 83.6% 231/281
Combined_Oxidative_Phosphorylation_Defect_Type_23.yaml 82.2% 83.1% 148/180
Patent_Ductus_Arteriosus.yaml 82.2% 83.7% 74/90
Manganism.yaml 82.3% 82.4% 218/265 1
Autoimmune_Hemolytic_Anemia.yaml 82.3% 82.7% 348/423
Siberian_Tick_Typhus.yaml 82.3% 83.7% 65/79 1
Cyanosis_Transient_Neonatal.yaml 82.3% 83.5% 79/96
CLOVES_Syndrome.yaml 82.3% 84.0% 191/232
Siderius_Type_X-Linked_Intellectual_Disability.yaml 82.3% 83.6% 219/266
COX10-Related_COX_Deficiency.yaml 82.4% 86.0% 28/34
Chemotherapy_Induced_Neutropenia.yaml 82.4% 85.6% 70/85
Combined_Saposin_Deficiency.yaml 82.4% 85.4% 42/51
EBV_Associated_Gastric_Cancer.yaml 82.4% 84.7% 84/102
Episodic_Ataxia.yaml 82.4% 83.9% 70/85 1
Hemiconvulsion-Hemiplegia-Epilepsy_Syndrome.yaml 82.4% 83.6% 98/119
Hereditary_Sensory_and_Autonomic_Neuropathy_Type_1C.yaml 82.4% 84.0% 56/68
Prurigo_Nodularis.yaml 82.4% 81.6% 14/17
Wiskott_Aldrich_Syndrome.yaml 82.4% 83.8% 182/221
Peroxisome_Biogenesis_Disorder.yaml 82.4% 81.9% 229/278 1
Immunodeficiency_120.yaml 82.4% 84.2% 131/159
Sideroblastic_Anemia_3.yaml 82.4% 84.5% 89/108
Van_Buchem_Disease.yaml 82.4% 83.1% 89/108
NF1_Microdeletion_Syndrome.yaml 82.4% 84.8% 61/74
Methotrexate_Toxicity.yaml 82.4% 82.5% 216/262 1
TUBB_TUBB5-related_Microcephaly.yaml 82.4% 84.2% 108/131 2
Cardiomyopathy-Hypotonia-Lactic_Acidosis_Syndrome.yaml 82.5% 82.3% 254/308 1
Dupuytrens_Contracture.yaml 82.5% 82.5% 80/97 1
GATA2_Deficiency.yaml 82.5% 84.2% 99/120
Oroya_Fever.yaml 82.5% 83.6% 99/120
Muggenthaler-Chowdhury-Chioza_Syndrome.yaml 82.5% 84.0% 85/103
Omodysplasia.yaml 82.5% 83.6% 170/206
Bacillary_Angiomatosis.yaml 82.5% 84.4% 104/126
Self-Limited_Epilepsy_with_Autonomic_Seizures.yaml 82.5% 83.6% 104/126
Vulvar_Carcinoma.yaml 82.5% 82.9% 227/275 3
Sanjad-Sakati_Syndrome.yaml 82.6% 84.4% 123/149
CRX_Related_Retinopathy.yaml 82.6% 84.5% 71/86
Relapsing_Fever.yaml 82.6% 83.5% 109/132
KBG_Syndrome.yaml 82.6% 85.0% 128/155
Imerslund-Grasbeck_Syndrome_Type_1.yaml 82.6% 83.5% 147/178
Dystroglycanopathy.yaml 82.6% 84.6% 242/293 2
COX5A-Related_COX_Deficiency.yaml 82.6% 85.1% 38/46
Caroli_Disease.yaml 82.6% 84.9% 133/161
Congenital_Heart_Defects_Multiple_Types_2.yaml 82.6% 83.2% 95/115 1
EDN3_EDNRB_Waardenburg_Shah.yaml 82.6% 85.4% 57/69
Preaxial_Digit_Brachydactyly-Webbed_Fingers.yaml 82.6% 85.6% 38/46
Short-Rib_Polydactyly_Syndrome.yaml 82.6% 84.2% 114/138
Tatton-Brown-Rahman_overgrowth_syndrome.yaml 82.6% 85.1% 38/46
Spondyloepimetaphyseal_Dysplasia_Missouri_Type.yaml 82.6% 83.7% 100/121 1
DECR_Deficiency.yaml 82.7% 85.1% 124/150
IREB2-Related_Neurodegeneration.yaml 82.7% 83.4% 248/300 1
Pseudomyxoma_Peritonei.yaml 82.7% 83.8% 124/150
Immunodeficiency_89_And_Autoimmunity.yaml 82.7% 84.1% 67/81
Primary_Tonsillar_Lymphoma.yaml 82.7% 83.4% 134/162 1
YWHAG_Syndrome.yaml 82.7% 84.5% 134/162
Aflatoxicosis.yaml 82.7% 83.3% 91/110
Orofaciodigital_Syndrome_Type_I.yaml 82.7% 84.5% 115/139
Sarcoidosis.yaml 82.8% 83.3% 355/429 2
Chancroid.yaml 82.8% 84.0% 72/87 1
Retinal_Arterial_Tortuosity.yaml 82.8% 84.2% 72/87
Usmani-Riazuddin_Syndrome_Autosomal_Recessive.yaml 82.8% 84.9% 72/87 1
Neurodevelopmental_Disorder_with_Microcephaly_Movement_Abnormalities_and_Seizures.yaml 82.8% 84.4% 173/209
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_102.yaml 82.8% 84.4% 77/93
Craniodiaphyseal_Dysplasia.yaml 82.8% 84.5% 164/198
BRAF_V600E_Mutant_Colorectal_Cancer.yaml 82.9% 82.5% 174/210 1
Complement_Component_4A_Deficiency.yaml 82.9% 85.1% 58/70 1
Erysipelothrix_Rhusiopathiae_Infectious_Disease.yaml 82.9% 84.2% 58/70
Anthrax.yaml 82.9% 84.6% 121/146
Mevalonate_Kinase_Deficiency.yaml 82.9% 84.7% 121/146
Cherubism.yaml 82.9% 85.3% 92/111
Hereditary_Spastic_Paraplegia_46.yaml 82.9% 83.7% 92/111 2
Light_Chain_Deposition_Disease.yaml 82.9% 84.5% 92/111
Tuberous_Sclerosis_Complex.yaml 82.9% 83.9% 436/526
Spastic_Paraparesis-cataracts-speech_Delay_Syndrome.yaml 82.9% 84.5% 107/129
STT3A-Congenital_Disorder_of_Glycosylation.yaml 83.0% 84.0% 253/305
HROB-related_gametogenic_failure.yaml 83.0% 84.7% 73/88
CYCS-Related_Thrombocytopenia.yaml 83.0% 85.8% 39/47
Focal_Cortical_Dysplasia_Type_II.yaml 83.0% 84.5% 122/147
Cornelia_de_Lange_Syndrome.yaml 83.0% 84.2% 205/247
Congenital_Prothrombin_Deficiency.yaml 83.0% 83.2% 166/200 1
GM1_Gangliosidosis_Type_3.yaml 83.0% 85.2% 44/53
Heart_Defect_Tongue_Hamartoma_Polysyndactyly_Syndrome.yaml 83.0% 85.8% 44/53
Mucolipidosis_Type_IV.yaml 83.0% 86.3% 44/53
Hereditary_Elliptocytosis.yaml 83.0% 84.4% 181/218
Hypertrophic_Cardiomyopathy_13.yaml 83.1% 86.7% 49/59
Familial_Adenomatous_Polyposis.yaml 83.1% 83.5% 103/124
Pemphigus_Foliaceus.yaml 83.1% 83.9% 103/124
Persistent_Truncus_Arteriosus.yaml 83.1% 83.6% 167/201 1
Charcot-Marie-Tooth_Disease_X-linked_Recessive_4.yaml 83.1% 85.1% 123/148
Spondyloepimetaphyseal_Dysplasia_Sponastrime_Type.yaml 83.1% 84.6% 123/148
Posterior_Myocardial_Infarction.yaml 83.1% 82.9% 64/77 1
DYRK1A_Syndrome.yaml 83.1% 85.2% 133/160
Acrodermatitis_Enteropathica.yaml 83.1% 84.8% 69/83
Muenke_Syndrome.yaml 83.1% 85.2% 69/83
Autosomal_Recessive_Osteopetrosis_1.yaml 83.1% 83.8% 217/261
DeSanto-Shinawi_Syndrome.yaml 83.1% 84.0% 74/89
Dystrophic_Epidermolysis_Bullosa.yaml 83.1% 83.9% 222/267
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_12.yaml 83.1% 84.6% 74/89
Developmental_And_Epileptic_Encephalopathy_81.yaml 83.2% 84.0% 153/184
Andersen-Tawil_Syndrome.yaml 83.2% 84.5% 232/279
Elsahy-Waters_Syndrome.yaml 83.2% 86.3% 79/95
10q22.3q23.3_Microduplication_Syndrome.yaml 83.2% 85.5% 89/107
Pelizaeus_Merzbacher_Disease.yaml 83.2% 84.8% 188/226
Thanatophoric_Dysplasia.yaml 83.2% 84.3% 114/137
Leber_Congenital_Amaurosis_13.yaml 83.2% 83.7% 124/149 1
Primary_Central_Nervous_System_Lymphoma.yaml 83.2% 84.7% 144/173 1
Microcephalic_Osteodysplastic_Primordial_Dwarfism_Type_I.yaml 83.2% 84.5% 149/179
Chemotherapy_Induced_Diarrhea.yaml 83.3% 84.3% 174/209
Autosomal_Recessive_Progressive_External_Ophthalmoplegia_1.yaml 83.3% 84.5% 214/257
Joubert_syndrome.yaml 83.3% 84.3% 563/676
Deoxyhypusine_Synthase_Deficiency.yaml 83.3% 84.7% 100/120
FASTKD5-Related_COX_Deficiency.yaml 83.3% 85.4% 35/42
Frank-Ter_Haar_Syndrome.yaml 83.3% 84.6% 90/108
Generalized_Resistance_to_Thyroid_Hormone.yaml 83.3% 84.9% 90/108
Glucose-6-Phosphate_Dehydrogenase_G6PD_Deficiency.yaml 83.3% 85.0% 130/156
Hypokalemic_Tubulopathy_and_Deafness.yaml 83.3% 84.4% 75/90
MTO1_Deficiency.yaml 83.3% 84.3% 215/258
Midface_Hypoplasia_Hearing_Impairment_Elliptocytosis_And_Nephrocalcinosis.yaml 83.3% 82.8% 110/132 1
Post-Traumatic_Epilepsy.yaml 83.3% 84.0% 110/132
Progressive_Myoclonic_Epilepsy_Type_8.yaml 83.3% 85.3% 80/96
Rhabdoid_Tumor.yaml 83.3% 85.0% 75/90
Rickettsia_Helvetica_Spotted_Fever.yaml 83.3% 85.3% 85/102
SARS1-Related_Neurodevelopmental_Disorder.yaml 83.3% 84.8% 220/264
THUMPD1-Related_Neurodevelopmental_Disorder.yaml 83.3% 85.4% 55/66
Temporal_Lobe_Epilepsy.yaml 83.3% 84.9% 30/36
Temtamy_Preaxial_Brachydactyly_Syndrome.yaml 83.3% 84.9% 130/156 1
PPM-X_Syndrome.yaml 83.4% 84.4% 201/241
Guanidinoacetate_Methyltransferase_Deficiency.yaml 83.4% 84.6% 181/217
ALG3-Congenital_Disorder_of_Glycosylation.yaml 83.4% 85.0% 146/175
Multiple_Congenital_Anomalies-Hypotonia-Seizures_Syndrome.yaml 83.4% 84.6% 141/169 1
Smith-Magenis_Syndrome.yaml 83.4% 85.7% 141/169
Wolcott-Rallison_Syndrome.yaml 83.4% 84.5% 141/169 2
Cockayne_Syndrome.yaml 83.4% 84.5% 272/326
MEPAN_Syndrome.yaml 83.4% 84.5% 126/151
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_21.yaml 83.5% 84.5% 116/139
Peroxisome_Biogenesis_Disorder_11B.yaml 83.5% 84.3% 106/127
Immunodeficiency_28.yaml 83.5% 85.8% 101/121
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_33.yaml 83.5% 83.7% 192/230
Preterm_Premature_Rupture_of_the_Membranes.yaml 83.5% 84.9% 182/218 1
Human_African_Trypanosomiasis.yaml 83.5% 83.2% 86/103
Medullary_Thyroid_Carcinoma.yaml 83.5% 85.1% 81/97 1
Ebola_Virus_Disease_EVD.yaml 83.5% 82.9% 157/188 2
Campylobacter_Fetus_Infectious_Disease.yaml 83.5% 84.7% 76/91
Deafness-Dystonia-Optic_Neuronopathy_Syndrome.yaml 83.5% 83.0% 152/182 1
SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml 83.5% 85.5% 76/91
Hereditary_Pancreatitis.yaml 83.5% 83.7% 71/85 1
Rett_Syndrome.yaml 83.5% 84.5% 213/255
Kniest_Dysplasia.yaml 83.5% 84.5% 137/164 1
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_18.yaml 83.5% 83.2% 137/164 1
Sarcopenia.yaml 83.5% 83.2% 411/492 1
CTCF-related_Neurodevelopmental_Disorder.yaml 83.5% 86.1% 132/158
Ficolin_3_Deficiency.yaml 83.5% 85.8% 66/79
Growth_Restriction_Hypoplastic_Kidneys_Alopecia_And_Distinctive_Facies.yaml 83.5% 82.7% 132/158 1
Hartsfield_Syndrome.yaml 83.6% 85.4% 61/73
Congenital_Dyserythropoietic_Anemia.yaml 83.6% 85.6% 168/201
Primary_Sclerosing_Cholangitis.yaml 83.6% 84.6% 56/67
Peroxisome_Biogenesis_Disorder_12A_Zellweger.yaml 83.6% 84.5% 209/250
Brachyolmia.yaml 83.6% 85.1% 204/244
Scott_Syndrome.yaml 83.6% 84.2% 51/61 1
CANVAS.yaml 83.6% 83.9% 393/470
Adult-Onset_Proximal_Spinal_Muscular_Atrophy_Autosomal_Dominant.yaml 83.6% 84.1% 184/220
Hydrolethalus_Syndrome_2.yaml 83.6% 86.0% 46/55
Multiple_System_Atrophy.yaml 83.6% 85.4% 138/165
PAICS_Deficiency.yaml 83.6% 84.7% 92/110
Pemphigus_Erythematosus.yaml 83.6% 85.2% 46/55
Bipolar_Disorder.yaml 83.7% 83.4% 174/208 1
Loeys-Dietz_Syndrome_4.yaml 83.7% 84.5% 261/312
Pantothenate_Kinase-Associated_Neurodegeneration.yaml 83.7% 85.5% 87/104
Stromme_Syndrome.yaml 83.7% 84.9% 174/208
Fibrous_Dysplasia.yaml 83.7% 85.1% 215/257
Hypertrophic_Cardiomyopathy_30_Atrial.yaml 83.7% 85.1% 169/202 1
CD16_Deficiency.yaml 83.7% 84.7% 82/98
Chromosome_3q29_Microduplication_Syndrome.yaml 83.7% 84.6% 82/98
Diabetes_Deafness_Developmental_Delay_and_Short_Stature_Syndrome.yaml 83.7% 85.1% 82/98
SNIP1-Related_Neurodevelopmental_Disorder.yaml 83.7% 85.1% 405/484
Cornelia_de_Lange_Syndrome_4.yaml 83.7% 84.2% 118/141
Autosomal_Dominant_Sensory_Ataxia_1.yaml 83.7% 84.8% 195/233
Congenital_Bile_Acid_Synthesis_Defect_5.yaml 83.7% 85.0% 149/178
Revesz_Syndrome.yaml 83.7% 84.2% 185/221
Pasteurellosis.yaml 83.7% 85.5% 72/86
Pyruvate_Kinase_Deficiency.yaml 83.7% 85.8% 72/86
Combined_Oxidative_Phosphorylation_Defect_Type_4.yaml 83.7% 85.0% 103/123
Spondylometaphyseal_Dysplasia_Kozlowski_Type.yaml 83.8% 85.5% 134/160
Hereditary_Sensory_and_Autonomic_Neuropathy_Type_2.yaml 83.8% 85.7% 98/117
Aneurysm-Osteoarthritis_Syndrome.yaml 83.8% 85.2% 191/228
46_XY_Sex_Reversal_5.yaml 83.8% 83.7% 217/259
Malan_Syndrome.yaml 83.8% 86.1% 93/111
Oculodentodigital_Dysplasia.yaml 83.8% 85.9% 155/185
Retinitis_Pigmentosa_With_or_Without_Situs_Inversus.yaml 83.8% 84.8% 124/148
Congenital_Factor_X_Deficiency.yaml 83.8% 83.9% 145/173 1
Peeling_Skin_Syndrome.yaml 83.8% 85.4% 140/167
Core_Binding_Factor_AML.yaml 83.8% 86.4% 83/99
Far_Eastern_Spotted_Fever.yaml 83.8% 85.3% 83/99 1
ACTH-independent_Macronodular_Adrenal_Hyperplasia_3.yaml 83.8% 85.4% 109/130
Inclusion_Body_Myopathy_with_Paget_Disease_of_Bone_and_Frontotemporal_Dementia.yaml 83.8% 85.2% 218/260
NEUROD2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 83.8% 84.6% 109/130 1
alpha-Methylacyl-CoA_Racemase_Deficiency.yaml 83.9% 84.7% 135/161 1
Alzheimer_Disease.yaml 83.9% 81.1% 852/1016 6
Prostate_Adenocarcinoma.yaml 83.9% 84.1% 213/254 2
DEPDC5-Related_Epilepsy.yaml 83.9% 85.5% 104/124 1
Holoprosencephaly_12_With_or_Without_Pancreatic_Agenesis.yaml 83.9% 84.9% 156/186 1
Hypomyelinating_Leukodystrophy_4.yaml 83.9% 85.2% 208/248
Multiple_Synostoses_Syndrome.yaml 83.9% 85.6% 78/93
NRAS_Mutant_Melanoma.yaml 83.9% 86.0% 78/93 1
Trench_Fever.yaml 83.9% 85.5% 78/93
Multiple_Myeloma.yaml 83.9% 86.3% 125/149 1
PTEN_Hamartoma_Tumor_Syndrome.yaml 83.9% 85.6% 125/149
TNF_Receptor-Associated_Periodic_Syndrome.yaml 83.9% 84.8% 125/149 2
Geleophysic_Dysplasia.yaml 83.9% 85.7% 198/236
Lymphangioleiomyomatosis.yaml 83.9% 85.0% 99/118
Severe_X-linked_Mitochondrial_Encephalomyopathy.yaml 83.9% 85.0% 245/292
Hypertrophic_Cardiomyopathy_20.yaml 83.9% 86.6% 73/87
2q37_Microdeletion_Syndrome.yaml 83.9% 85.1% 120/143
H3_K27_Altered_Diffuse_Midline_Glioma.yaml 83.9% 85.4% 120/143 1
Holt-Oram_Syndrome.yaml 83.9% 85.2% 120/143 2
LAMA5-Related_Bent_Bone_Dysplasia.yaml 83.9% 85.7% 120/143
Cardiomyopathy_Dilated_2G.yaml 83.9% 87.2% 47/56
Dermatofibrosarcoma_Protuberans.yaml 83.9% 84.7% 47/56 2
Leishmaniasis.yaml 83.9% 83.6% 141/168 1
Subacute_Inflammatory_Demyelinating_Polyneuropathy.yaml 83.9% 86.1% 47/56 1
Local_Anesthetic_Systemic_Toxicity.yaml 84.0% 84.4% 136/162 1
Coal_Workers_Pneumoconiosis.yaml 84.0% 84.2% 246/293 1
Burn-McKeown_Syndrome.yaml 84.0% 84.7% 267/318
Peripheral_Artery_Disease.yaml 84.0% 85.7% 89/106
Bronchiectasis_And_Nasal_Polyposis.yaml 84.0% 85.2% 110/131
Juvenile_Myelomonocytic_Leukemia.yaml 84.0% 84.5% 110/131
Combined_Oxidative_Phosphorylation_Deficiency_35.yaml 84.0% 84.9% 173/206
Kleine-Levin_Syndrome.yaml 84.0% 85.8% 63/75
Larsen-like_Syndrome_B3GAT3_Type.yaml 84.0% 86.1% 247/294
Boucher-Neuhauser_Syndrome.yaml 84.0% 84.7% 142/169 1
Dengue.yaml 84.0% 84.8% 79/94 1
Monoclonal_Mast_Cell_Activation_Syndrome.yaml 84.0% 84.3% 79/94 1
Dracunculiasis.yaml 84.1% 83.1% 58/69 1
Autoimmune_Polyendocrine_Syndrome_Type_1.yaml 84.1% 84.7% 153/182
Congenital_Myelofibrosis_With_Anemia_Neutropenia_Developmental_Delay_And_Ocular_Abnormalities.yaml 84.1% 85.7% 111/132
Distal_Myopathy_7_Adult-Onset_X-Linked.yaml 84.1% 85.6% 106/126
Mitochondrial_Complex_V_ATP_Synthase_Deficiency_Nuclear_Type_1.yaml 84.1% 85.5% 53/63
Childhood_Absence_Epilepsy.yaml 84.1% 86.0% 122/145
Scapuloperoneal_Spinal_Muscular_Atrophy.yaml 84.1% 86.7% 69/82
Spondyloepimetaphyseal_Dysplasia_Strudwick_Type.yaml 84.1% 85.3% 138/164 1
Dacryocystitis-Osteopoikilosis_Syndrome.yaml 84.2% 86.4% 85/101
Mendelian_Susceptibility_To_Mycobacterial_Diseases_Due_To_Partial_IRF8_Deficiency.yaml 84.2% 86.2% 85/101
Hypochondroplasia.yaml 84.2% 85.9% 186/221
Denys-Drash_Syndrome.yaml 84.2% 85.3% 101/120
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_13.yaml 84.2% 85.0% 101/120
Thiamine-Responsive_Megaloblastic_Anemia_Syndrome.yaml 84.2% 85.1% 117/139
CLCN2-Related_Leukoencephalopathy.yaml 84.2% 86.3% 250/297
Alveolar_Rhabdomyosarcoma.yaml 84.2% 82.7% 298/354 3
Bernard-Soulier_Syndrome.yaml 84.2% 84.8% 197/234
Nicolaides-Baraitser_Syndrome.yaml 84.2% 85.6% 213/253
Aicardi_Goutieres_Syndrome.yaml 84.2% 84.9% 261/310
Charcot-Marie-Tooth_Disease_Type_4K.yaml 84.2% 86.0% 64/76
Classical-like_Ehlers-Danlos_Syndrome.yaml 84.2% 85.8% 144/171
Hereditary_Breast_and_Ovarian_Cancer_Syndrome.yaml 84.2% 84.6% 112/133 1
Hypomyelinating_Leukodystrophy_23.yaml 84.2% 85.8% 112/133
IL6ST-Related_Stuve-Wiedemann_Syndrome.yaml 84.2% 85.5% 112/133
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_36.yaml 84.2% 84.2% 144/171
Monkeypox.yaml 84.2% 84.1% 160/190 2
Neurofibromatosis_Type_1.yaml 84.2% 85.7% 160/190
Neuromyelitis_Optica.yaml 84.2% 82.9% 144/171 5
Onchocerciasis.yaml 84.2% 85.4% 80/95
SCN1B-Related_Developmental_and_Epileptic_Encephalopathy.yaml 84.2% 85.8% 208/247
Tooth_and_Nail_Syndrome.yaml 84.2% 85.3% 64/76 1
X-linked_Mendelian_Susceptibility_to_Mycobacterial_Diseases_due_to_CYBB_Deficiency.yaml 84.2% 85.6% 96/114
Isoniazid_Toxicity.yaml 84.2% 84.5% 139/165
Developmental_And_Epileptic_Encephalopathy_16.yaml 84.2% 84.7% 246/292
Streptococcal_Pharyngitis.yaml 84.3% 86.5% 107/127
Autosomal_Dominant_Charcot-Marie-Tooth_Disease_Type_2W.yaml 84.3% 86.0% 91/108
Retinoblastoma.yaml 84.3% 85.0% 91/108 1
Congenital_Heart_Disease.yaml 84.3% 84.6% 316/375
X-linked_Dilated_Cardiomyopathy.yaml 84.3% 85.0% 134/159
LAMB1-Related_Cobblestone_Lissencephaly.yaml 84.3% 85.7% 118/140 2
Axial_Spondylometaphyseal_Dysplasia.yaml 84.3% 84.1% 220/261
MyD88_Deficiency.yaml 84.3% 85.0% 161/191 1
Fragile_X_Syndrome.yaml 84.3% 85.8% 247/293
Brain_Arteriovenous_Malformation.yaml 84.3% 84.4% 231/274
Hemophilia_A.yaml 84.3% 84.8% 129/153
Krabbe_Disease_Due_To_Saposin_A_Deficiency.yaml 84.3% 87.9% 43/51
MED11-Related_Disorder.yaml 84.3% 87.2% 43/51
Mitochondrial_Complex_V_ATP_Synthase_Deficiency_Nuclear_Type_2.yaml 84.3% 85.2% 86/102
RUNX1_Familial_Platelet_Disorder.yaml 84.3% 85.9% 86/102
Spinocerebellar_Ataxia_Autosomal_Recessive_31.yaml 84.3% 87.3% 86/102
Developmental_And_Epileptic_Encephalopathy_77.yaml 84.3% 84.6% 199/236
IgA_Nephropathy.yaml 84.3% 85.5% 156/185
Hearing_Loss_Autosomal_Dominant_78.yaml 84.3% 85.1% 70/83
Mitochondrial_Complex_II_Deficiency_Nuclear_Type_1.yaml 84.3% 86.0% 70/83 1
Niemann_Pick_Disease_Type_C.yaml 84.3% 85.5% 210/249
UNC13A_Congenital_NDD_with_Epilepsy.yaml 84.4% 84.6% 151/179 2
Epithelioid_Hemangioendothelioma.yaml 84.4% 85.8% 216/256
Hereditary_Spastic_Paraplegia.yaml 84.4% 86.2% 351/416
Pentanucleotide_Repeat_Familial_Adult_Myoclonus_Epilepsy.yaml 84.4% 84.9% 173/205 1
Paroxysmal_Dyskinesia.yaml 84.4% 85.5% 292/346 2
Chordoma.yaml 84.4% 85.0% 119/141
Acute_Post-Surgical_Pain.yaml 84.4% 86.2% 92/109
Q_Fever.yaml 84.4% 85.4% 65/77
Small_Intestinal_Bacterial_Overgrowth.yaml 84.4% 86.7% 65/77
Autosomal_Recessive_Congenital_Ichthyosis.yaml 84.4% 84.9% 271/321
Dysostosis_Multiplex_Ain-Naz_Type.yaml 84.4% 85.3% 141/167
Charcot-Marie-Tooth_Disease.yaml 84.4% 85.0% 76/90
Charcot-Marie-Tooth_Disease_Axonal_Type_2JJ.yaml 84.4% 86.4% 76/90
Lemierre_Syndrome.yaml 84.5% 86.8% 87/103
Resistance_to_Thyroid_Hormone_Alpha.yaml 84.5% 83.6% 272/322 1
Combined_Oxidative_Phosphorylation_Deficiency_42.yaml 84.5% 84.0% 98/116 1
Dilated_Cardiomyopathy_1I.yaml 84.5% 87.6% 49/58
Periodontal_Ehlers-Danlos_Syndrome.yaml 84.5% 86.0% 98/116
Scrub_Typhus.yaml 84.5% 86.0% 207/245 1
Werner_Syndrome.yaml 84.5% 84.5% 289/342 1
Lathosterolosis.yaml 84.5% 86.2% 120/142
Platelet-type_Bleeding_Disorder_19.yaml 84.5% 86.4% 60/71
Paraneoplastic_Pemphigus.yaml 84.5% 83.1% 131/155 1
HER2_Positive_Colorectal_Cancer.yaml 84.5% 86.8% 71/84 1
Ovarian_Mucinous_Carcinoma.yaml 84.5% 87.7% 71/84
GM1_Gangliosidosis_Type_1.yaml 84.5% 85.6% 153/181
Lyme_Disease.yaml 84.5% 85.3% 186/220
Roifman-syndrome.yaml 84.6% 84.6% 104/123
Hantavirus_Hemorrhagic_Fever_with_Renal_Syndrome.yaml 84.6% 86.3% 219/259
Rosai-Dorfman_Disease.yaml 84.6% 87.0% 115/136
SZT2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 84.6% 86.3% 137/162
G6PC3_Deficiency.yaml 84.6% 85.0% 192/227 3
COX6A2-Related_COX_Deficiency.yaml 84.6% 87.3% 33/39
Cerebral_Palsy.yaml 84.6% 85.9% 176/208 1
Congenital_Hypofibrinogenemia.yaml 84.6% 87.0% 44/52
Lipoid_Proteinosis.yaml 84.6% 86.5% 110/130
Nijmegen_Breakage_Syndrome-like_Disorder.yaml 84.6% 85.7% 253/299
Papillary_Thyroid_Carcinoma.yaml 84.6% 85.7% 77/91
SOX10_Neurocristopathy_Spectrum.yaml 84.6% 87.3% 66/78
Testicular_Seminoma.yaml 84.6% 87.4% 88/104
Thanatophoric_Dysplasia_Type_2.yaml 84.6% 85.3% 176/208
X-Linked_Combined_Immunodeficiency.yaml 84.6% 85.6% 132/156
Early-onset_Generalized_Limb-onset_Dystonia.yaml 84.7% 84.4% 182/215
Embryonal_Carcinoma.yaml 84.7% 86.7% 138/163
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_15.yaml 84.7% 85.3% 138/163
Alveolar_Capillary_Dysplasia_with_Misalignment_of_Pulmonary_Veins.yaml 84.7% 85.6% 116/137
Hypertrophic_Cardiomyopathy_1.yaml 84.7% 85.2% 232/274
Developmental_And_Epileptic_Encephalopathy_46.yaml 84.7% 86.0% 221/261
Hypomyelinating_Leukodystrophy_27.yaml 84.7% 86.3% 105/124
Pica.yaml 84.7% 86.1% 72/85
Rocky_Mountain_Spotted_Fever.yaml 84.7% 85.4% 266/314
Bulimia_Nervosa.yaml 84.7% 85.1% 250/295
Dentin_Dysplasia_Type_II.yaml 84.7% 85.7% 100/118
Ellis-van_Creveld_Syndrome.yaml 84.7% 86.1% 100/118
MED17-Related_Disorder.yaml 84.7% 87.0% 50/59
Parainfluenza_Virus_Infection.yaml 84.7% 86.3% 50/59
PLS3-Related_X-Linked_Osteoporosis.yaml 84.8% 85.3% 178/210
Ring_Chromosome_20_Syndrome.yaml 84.8% 85.3% 178/210
Dilated_Cardiomyopathy_1O.yaml 84.8% 85.5% 167/197
Congenital_Sialidosis_Type_2.yaml 84.8% 87.5% 39/46
EAST_Syndrome.yaml 84.8% 86.4% 78/92 1
Basal_Cell_Carcinoma.yaml 84.8% 85.4% 145/171
Wieacker_Wolff_Syndrome.yaml 84.8% 85.7% 212/250
Hereditary_Spastic_Paraplegia_77.yaml 84.8% 85.9% 173/204
DENND5A-Related_Developmental_and_Epileptic_Encephalopathy.yaml 84.8% 86.1% 201/237 1
Pyomyositis.yaml 84.8% 86.5% 67/79
Developmental_And_Epileptic_Encephalopathy_19.yaml 84.8% 86.2% 162/191
Neurodevelopmental_Disorder_with_Hypotonia_and_Speech_Delay.yaml 84.8% 86.3% 190/224
Cranioectodermal_Dysplasia.yaml 84.8% 86.5% 179/211
DGAT1_Deficiency.yaml 84.8% 88.2% 56/66
Lichen_Myxedematosus.yaml 84.8% 86.0% 84/99
Familial_Partial_Lipodystrophy.yaml 84.9% 86.6% 185/218
Congenital_Zika_Syndrome.yaml 84.9% 85.7% 202/238 2
Hearing_Loss_Autosomal_Dominant_34_With_Or_Without_Inflammation.yaml 84.9% 86.8% 101/119
Influenza.yaml 84.9% 87.0% 101/119
Methylmalonic_Aciduria_and_Homocystinuria_cblL_Type.yaml 84.9% 85.7% 101/119
ZNF407-Related_Neurodevelopmental_Disorder.yaml 84.9% 86.4% 174/205
Mixed_Neuronal-Glial_Tumor.yaml 84.9% 87.5% 73/86
Proteus_syndrome.yaml 84.9% 86.1% 191/225
Dilated_Cardiomyopathy_1D.yaml 84.9% 88.1% 45/53
Dilated_Cardiomyopathy_1S.yaml 84.9% 88.1% 45/53
Madras_Motor_Neuron_Disease.yaml 84.9% 87.9% 45/53
aceruloplasminemia.yaml 84.9% 86.2% 90/106
Congenital_Hydrocephalus.yaml 84.9% 85.9% 304/358
Primrose_Syndrome.yaml 84.9% 86.7% 152/179
Cardiomyopathy_Dilated_2H.yaml 84.9% 85.7% 107/126
Cisplatin_Toxicity.yaml 84.9% 85.9% 141/166
Heavy_Chain_Disease.yaml 84.9% 85.8% 316/372 1
USP8-related_pituitary_adenoma_4.yaml 84.9% 88.5% 79/93
Glaucoma.yaml 85.0% 85.6% 96/113 1
Bleeding_Disorder_of_Unknown_Cause.yaml 85.0% 85.2% 209/246
MYH2-Related_Myopathy.yaml 85.0% 85.4% 209/246
Behcets_Disease.yaml 85.0% 86.8% 113/133
Bronchopulmonary_Dysplasia.yaml 85.0% 85.8% 113/133
Primary_Ciliary_Dyskinesia_9.yaml 85.0% 86.5% 113/133
Spondylometaphyseal_Dysplasia_with_Corneal_Dystrophy.yaml 85.0% 86.3% 113/133
CHOPS_Syndrome.yaml 85.0% 86.1% 317/373
Hemimegalencephaly.yaml 85.0% 86.4% 119/140
Loeys-Dietz_Syndrome.yaml 85.0% 85.7% 272/320
Non-24-Hour_Sleep-Wake_Rhythm_Disorder.yaml 85.0% 87.2% 51/60
Osteopetrosis.yaml 85.0% 85.9% 221/260
Platelet-type_Bleeding_Disorder_12.yaml 85.0% 86.1% 102/120
STAT5B_Deficiency.yaml 85.0% 86.0% 176/207
Necrotizing_Enterocolitis.yaml 85.0% 84.5% 233/274 1
Kilquist_Syndrome.yaml 85.0% 85.5% 108/127
Osteogenesis_Imperfecta_Type_III.yaml 85.0% 86.6% 108/127
Acute_Opioid_Poisoning.yaml 85.0% 86.6% 91/107
Post-SSRI_Sexual_Dysfunction.yaml 85.1% 86.1% 165/194
Cornelia_de_Lange_Syndrome_5.yaml 85.1% 86.2% 148/174
Hearing_Loss_Autosomal_Dominant_75.yaml 85.1% 85.8% 74/87
Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer.yaml 85.1% 86.5% 74/87
Paroxysmal_Extreme_Pain_Disorder.yaml 85.1% 87.1% 74/87
Action_Myoclonus-Renal_Failure_Syndrome.yaml 85.1% 85.9% 131/154 1
X-linked_Chondrodysplasia_Punctata_2.yaml 85.1% 86.2% 131/154
Congenital_Central_Hypoventilation_Syndrome.yaml 85.1% 85.9% 97/114
MED13_Syndrome.yaml 85.1% 85.5% 291/342 1
Monilethrix.yaml 85.1% 86.9% 97/114
Superior_Mesenteric_Artery_Syndrome.yaml 85.1% 85.8% 160/188 1
MHC_Class_II_Deficiency.yaml 85.1% 86.2% 252/296
Malignant_Atrophic_Papulosis.yaml 85.1% 86.8% 63/74
Immunoskeletal_Dysplasia_with_Neurodevelopmental_Abnormalities.yaml 85.1% 86.2% 258/303
Vitamin_D-Dependent_Rickets_Type_2A.yaml 85.2% 85.3% 195/229 1
Kashin-Beck_Disease.yaml 85.2% 83.8% 350/411 2
Epilepsy_with_Myoclonic_Absences.yaml 85.2% 86.4% 132/155
Dubin-Johnson_Syndrome.yaml 85.2% 87.5% 46/54
HAO1-Related_Glycolate_Oxidase_Deficiency.yaml 85.2% 89.0% 23/27
MED27-Related_Disorder.yaml 85.2% 87.9% 46/54
Nizon-Isidor_Syndrome.yaml 85.2% 87.9% 46/54
Sjogren-Larsson_Syndrome.yaml 85.2% 86.6% 138/162
Tall_Stature-Intellectual_Disability-Renal_Anomalies_Syndrome.yaml 85.2% 87.1% 69/81
X-linked_Lymphoproliferative_Disease_Due_To_SH2D1A_Deficiency.yaml 85.2% 86.1% 167/196
SLC25A12-Related_Developmental_and_Epileptic_Encephalopathy.yaml 85.2% 86.6% 144/169 1
Congenital_Myasthenic_Syndrome_7.yaml 85.2% 86.3% 121/142
CAGSSS_Syndrome.yaml 85.2% 85.9% 271/318
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_77.yaml 85.2% 85.9% 173/203
Dilated_Cardiomyopathy_1X.yaml 85.2% 86.5% 75/88
Intellectual_Disability_Autosomal_Dominant_34.yaml 85.2% 85.5% 231/271 2
Esophageal_Carcinoma.yaml 85.2% 85.8% 104/122
Spirillary_Rat-Bite_Fever.yaml 85.2% 86.4% 52/61
Tay-Sachs_Disease_AB_Variant.yaml 85.2% 87.9% 52/61
Alagille_syndrome.yaml 85.3% 86.1% 237/278 2
ADCA-DN.yaml 85.3% 85.9% 272/319
Charcot-Marie-Tooth_Disease_Dominant_Intermediate_B.yaml 85.3% 85.8% 110/129
Combined_Immunodeficiency_Due_To_GINS1_Deficiency.yaml 85.3% 86.1% 139/163
Hereditary_Spastic_Paraplegia_5A.yaml 85.3% 86.0% 87/102
MTHFD1_Deficiency.yaml 85.3% 86.0% 145/170
SLC26A1-Related_Oxalate_Transporter_Deficiency.yaml 85.3% 89.0% 29/34
POLR-Related_Leukodystrophy.yaml 85.3% 86.8% 267/313
Centronuclear_Myopathy.yaml 85.3% 86.9% 180/211
Hypermobile_Ehlers-Danlos_Syndrome.yaml 85.3% 85.5% 180/211 2
Keratosis_Follicularis_Spinulosa_Decalvans.yaml 85.3% 87.0% 151/177
Mixed_Phenotype_Acute_Leukemia.yaml 85.3% 86.8% 314/368
Colon_Adenocarcinoma.yaml 85.3% 85.4% 128/150 1
SYT1_Baker-Gordon_Syndrome.yaml 85.3% 87.8% 64/75
H_Syndrome.yaml 85.3% 86.9% 163/191
Neurodevelopmental_Disorder_with_Microcephaly_Hypotonia_and_Absent_Language.yaml 85.4% 87.5% 134/157
Staphylococcal_Scalded_Skin_Syndrome.yaml 85.4% 85.9% 169/198
Autosomal_Dominant_Aplasia_And_Myelodysplasia.yaml 85.4% 85.5% 70/82
BBOX1-Related_Carnitine_Biosynthesis_Deficiency.yaml 85.4% 85.9% 140/164
Good_Syndrome.yaml 85.4% 86.1% 105/123
Hepatitis_A.yaml 85.4% 86.7% 70/82
Neuralgic_Amyotrophy.yaml 85.4% 85.5% 105/123
RCBTB1-Related_Retinopathy.yaml 85.4% 88.3% 70/82
Autosomal_Dominant_Polycystic_Liver_Disease.yaml 85.4% 85.2% 286/335 1
Dieulafoy_Lesion.yaml 85.4% 87.1% 41/48
Odontochondrodysplasia.yaml 85.4% 86.6% 123/144
Pneumocystis_Pneumonia.yaml 85.4% 86.2% 41/48
Cogan_Syndrome.yaml 85.4% 86.3% 170/199
Formaldehyde_Poisoning.yaml 85.4% 86.6% 276/323
Asthma.yaml 85.5% 84.6% 417/488 5
Cataract_13_With_Adult_I_Phenotype.yaml 85.5% 86.7% 47/55
Peroxisome_Biogenesis_Disorder_8B.yaml 85.5% 86.4% 141/165
Rubinstein-Taybi_Syndrome.yaml 85.5% 87.1% 141/165
Trisomy_13.yaml 85.5% 87.8% 47/55
FG_Syndrome_1.yaml 85.5% 86.7% 341/399
Delpire-McNeill_Syndrome.yaml 85.5% 86.8% 106/124
Pearson_Syndrome.yaml 85.5% 87.4% 53/62
Neurodevelopmental_Disorder_with_Hypotonia_Feeding_Difficulties_Facial_Dysmorphism_and_Brain_Abnormalities.yaml 85.5% 86.7% 218/255
Primary_Coenzyme_Q10_Deficiency.yaml 85.5% 87.6% 224/262
Ehlers-Danlos_Syndrome.yaml 85.5% 84.6% 230/269 1
TMEM165-Congenital_Disorder_of_Glycosylation.yaml 85.5% 86.4% 301/352
Purine_Nucleoside_Phosphorylase_Deficiency.yaml 85.5% 86.6% 183/214
Hypomyelinating_Leukodystrophy_15.yaml 85.5% 86.5% 124/145
Charcot-Marie-Tooth_Disease_Axonal_Type_2S.yaml 85.5% 86.0% 130/152
SLC12A5-Related_Developmental_and_Epileptic_Encephalopathy.yaml 85.6% 87.5% 166/194
ER_Positive_Breast_Cancer.yaml 85.6% 87.5% 89/104 1
EYA1-Related_Branchiootorenal_Spectrum.yaml 85.6% 86.6% 184/215
POT1_Tumor_Predisposition_Syndrome.yaml 85.6% 86.5% 95/111
Optic_Atrophy_3.yaml 85.6% 86.7% 107/125
Bacterial_Vaginosis.yaml 85.6% 85.3% 220/257 1
Ehlers-Danlos_Syndrome_COL5A1-related.yaml 85.6% 86.6% 113/132
Kleefstra_Syndrome.yaml 85.6% 87.7% 113/132
Mandibulofacial_Dysostosis_with_Microcephaly.yaml 85.6% 86.9% 113/132
Self-Limited_Epilepsy_with_Centrotemporal_Spikes.yaml 85.6% 86.3% 113/132 1
SPTAN1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 85.6% 87.0% 125/146
Spondyloepimetaphyseal_Dysplasia_Short_Limb_Abnormal_Calcification_Syndrome.yaml 85.6% 86.3% 125/146
Ritscher-Schinzel_Syndrome.yaml 85.6% 87.7% 149/174
Byssinosis.yaml 85.6% 85.9% 155/181
Immunodeficiency_88.yaml 85.7% 86.0% 215/251
Adenoid_Cystic_Carcinoma.yaml 85.7% 86.9% 174/203
CERKL-Related_Retinopathy.yaml 85.7% 88.1% 54/63
Charcot-Marie-Tooth_Disease_Type_X.yaml 85.7% 87.2% 168/196
Chromosome_17q12_Deletion_Syndrome.yaml 85.7% 86.4% 156/182
DEF6_Deficiency.yaml 85.7% 87.5% 96/112
Dilated_Cardiomyopathy_1HH.yaml 85.7% 88.6% 54/63
Familial_Hyperaldosteronism_Type_I.yaml 85.7% 86.2% 120/140
Glanders.yaml 85.7% 86.4% 60/70
Hereditary_Sensory_and_Autonomic_Neuropathy_Type_1A.yaml 85.7% 86.3% 192/224
Hypoplasminogenemia.yaml 85.7% 87.0% 78/91 1
Immunodeficiency_15A.yaml 85.7% 86.3% 126/147
Kanzaki_Disease.yaml 85.7% 88.2% 54/63
Keratosis_Pilaris_Atrophicans.yaml 85.7% 87.6% 96/112
Metatropic_Dysplasia.yaml 85.7% 87.5% 114/133
Microscopic_Polyangiitis.yaml 85.7% 87.2% 150/175
PET117-Related_COX_Deficiency.yaml 85.7% 88.2% 30/35
Rhabdoid_Tumor_Predisposition_Syndrome_1.yaml 85.7% 86.5% 60/70
SLC26A6-Related_Hyperoxaluria_and_Nephrolithiasis.yaml 85.7% 88.7% 36/42
Spondylo-megaepiphyseal-metaphyseal_Dysplasia.yaml 85.7% 86.8% 114/133
Stickler_Syndrome_Type_1_Nonsyndromic_Ocular.yaml 85.7% 86.8% 120/140
Streptobacillary_Rat-Bite_Fever.yaml 85.7% 87.1% 54/63
Thymic_Carcinoma.yaml 85.7% 87.5% 108/126
Vein_of_Galen_Aneurysm.yaml 85.7% 84.7% 174/203 2
erythromelalgia.yaml 85.7% 87.7% 48/56
Autosomal_Dominant_Optic_Atrophy.yaml 85.8% 86.2% 181/211
Deployment-Related_Constrictive_Bronchiolitis.yaml 85.8% 86.8% 169/197
KDM1A-Related_Neurodevelopmental_Disorder.yaml 85.8% 87.9% 127/148
Pelvic_Organ_Prolapse.yaml 85.8% 86.1% 236/275
Congenital_Laryngomalacia.yaml 85.8% 86.1% 109/127 1
EML1_Ribbon_Heterotopia.yaml 85.8% 87.3% 103/120 2
Immunodeficiency_123_With_HPV-related_Verrucosis.yaml 85.8% 87.8% 103/120
Osteogenesis_Imperfecta_Type_VII.yaml 85.8% 86.6% 97/113
Thymic_Neuroendocrine_Carcinoma.yaml 85.8% 87.0% 285/332
Clouston_Syndrome.yaml 85.8% 87.3% 91/106
Glycogen_Storage_Disease_Due_to_Muscle_Beta-Enolase_Deficiency.yaml 85.8% 87.4% 91/106
Neutrophil_Immunodeficiency_Syndrome.yaml 85.9% 86.3% 85/99
Epilepsy.yaml 85.9% 87.1% 316/368
CARMIL2_Deficiency.yaml 85.9% 85.8% 468/545
Intellectual_Disability_Anterior_Maxillary_Protrusion_and_Strabismus.yaml 85.9% 87.9% 146/170
Periventricular_Nodular_Heterotopia.yaml 85.9% 87.2% 146/170 1
Dilated_Cardiomyopathy_1DD.yaml 85.9% 88.0% 67/78
Ogden_syndrome.yaml 85.9% 86.8% 128/149
Platelet-type_Bleeding_Disorder_18.yaml 85.9% 86.5% 61/71 1
Opsismodysplasia.yaml 85.9% 87.4% 171/199
Salivary_Gland_Polymorphous_Adenocarcinoma.yaml 85.9% 87.5% 171/199
Diamond-Blackfan_Anemia.yaml 85.9% 86.5% 226/263
RAB33B-Related_Smith-McCort_Dysplasia_2.yaml 85.9% 88.3% 55/64
RET_Rearranged_NSCLC.yaml 85.9% 85.5% 165/192 1
Paroxysmal_Nocturnal_Hemoglobinuria.yaml 86.0% 87.8% 104/121
Perrault_Syndrome.yaml 86.0% 87.4% 282/328
RFT1-congenital_disorder_of_glycosylation.yaml 86.0% 86.9% 141/164
GNPTG-Mucolipidosis.yaml 86.0% 88.0% 92/107
Systemic_Mastocytosis.yaml 86.0% 87.3% 135/157
Mitchell-Riley_Syndrome.yaml 86.0% 87.1% 178/207
Seasonal_Coronavirus_Infection.yaml 86.0% 87.3% 43/50
15q11q13_Microduplication_Syndrome.yaml 86.0% 87.2% 209/243
Amatoxin_Poisoning.yaml 86.0% 86.2% 209/243 1
CACNA1E-Related_Developmental_and_Epileptic_Encephalopathy.yaml 86.0% 86.6% 246/286
Dilated_Cardiomyopathy_1AA.yaml 86.0% 87.1% 203/236
Mandibulofacial_Dysostosis_With_Alopecia.yaml 86.0% 87.5% 80/93
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_39.yaml 86.0% 87.1% 80/93
Phosphoglycerate_Kinase_1_Deficiency.yaml 86.0% 87.1% 154/179
Alcoholic_Liver_Disease.yaml 86.0% 85.2% 191/222 2
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_79.yaml 86.0% 87.0% 111/129
Jet_Lag.yaml 86.0% 86.6% 74/86
Severe_Neonatal-Onset_Encephalopathy_With_Microcephaly.yaml 86.1% 86.5% 401/466
BEST1_Bestrophinopathies.yaml 86.1% 86.2% 253/294
Anaerobic_Pneumonia.yaml 86.1% 86.2% 105/122 1
Dilated_Cardiomyopathy_1V.yaml 86.1% 86.5% 105/122
Chromosome_2q32-q33_Deletion_Syndrome.yaml 86.1% 87.8% 173/201
MSTO1-Related_Mitochondrial_Myopathy.yaml 86.1% 87.1% 266/309 2
Charcot-Marie-Tooth_Disease_Dominant_Intermediate_E.yaml 86.1% 86.8% 130/151
Infantile_Liver_Failure_Syndrome_1.yaml 86.1% 87.2% 130/151
COX11-Related_COX_Deficiency.yaml 86.1% 88.9% 31/36
Optic_Atrophy_13_With_Retinal_And_Foveal_Abnormalities.yaml 86.1% 87.3% 93/108
Rhizomelic_Chondrodysplasia_Punctata_Type_5.yaml 86.1% 87.7% 93/108
Chronic_Mucocutaneous_Candidiasis.yaml 86.1% 87.2% 329/382
Immunodeficiency_67.yaml 86.1% 86.6% 118/137 1
Choroideremia-Deafness-Obesity_Syndrome.yaml 86.1% 87.8% 87/101
Hemophilia.yaml 86.1% 87.0% 87/101
Allan-Herndon-Dudley_Syndrome.yaml 86.1% 86.6% 286/332
Autosomal_Dominant_Progressive_External_Ophthalmoplegia.yaml 86.1% 87.0% 342/397
Dilated_Cardiomyopathy_1G.yaml 86.2% 88.9% 56/65
Floating-Harbor_syndrome.yaml 86.2% 88.7% 56/65
Prolidase_Deficiency.yaml 86.2% 88.0% 193/224
Intellectual_Disability_X-linked_100.yaml 86.2% 87.0% 137/159
Urea_Cycle_Disorder.yaml 86.2% 86.7% 218/253 1
Multiple_Mitochondrial_Dysfunctions_Syndrome_2.yaml 86.2% 86.9% 162/188
Dilated_Cardiomyopathy_1E.yaml 86.2% 89.2% 50/58
Hailey-Hailey_Disease.yaml 86.2% 87.8% 75/87 1
Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml 86.2% 87.9% 75/87 1
Spondylometaphyseal_Dysplasia_with_Cone-Rod_Dystrophy.yaml 86.2% 87.9% 100/116
TUBA8-related_Polymicrogyria_with_Optic_Nerve_Hypoplasia.yaml 86.2% 86.9% 100/116
Chuvash_Polycythemia.yaml 86.2% 86.7% 188/218
HHAT-Related_Chondrodysplasia_with_46XY_Disorder_of_Sex_Development.yaml 86.2% 87.3% 163/189
Agoraphobia.yaml 86.2% 86.9% 69/80
Huntington_Disease-like_2.yaml 86.2% 87.0% 69/80
Patent_Ductus_Arteriosus_3.yaml 86.3% 86.5% 182/211
Restrictive_Cardiomyopathy.yaml 86.3% 88.0% 157/182
Distal_Hereditary_Motor_Neuronopathy_Type_9.yaml 86.3% 87.5% 88/102
GPR101-related_pituitary_adenoma_2.yaml 86.3% 88.6% 88/102
LRBA_Deficiency.yaml 86.3% 88.8% 88/102
Methanol_Poisoning.yaml 86.3% 88.2% 132/153
SCO1-Related_COX_Deficiency.yaml 86.3% 88.7% 44/51
Cartilage-Hair_Hypoplasia.yaml 86.3% 86.3% 384/445
Niemann-Pick_Disease_Type_B.yaml 86.3% 88.5% 63/73
Spondylometaphyseal_Dysplasia_Corner_Fracture_Type.yaml 86.3% 87.6% 145/168
Rhinoscleroma.yaml 86.3% 87.9% 82/95
Giant_Axonal_Neuropathy_1.yaml 86.3% 87.2% 221/256
Mediator_Complex_Neurodevelopmental_Disorder.yaml 86.3% 86.7% 398/461 1
Combined_Oxidative_Phosphorylation_Deficiency_36.yaml 86.3% 87.6% 158/183
Bone_Marrow_Failure_Syndrome_6.yaml 86.4% 87.0% 114/132
Calvarial_Doughnut_Lesions-bone_Fragility_Syndrome.yaml 86.4% 87.4% 133/154
Cervical_Artery_Dissection.yaml 86.4% 87.6% 57/66
Panuveitis.yaml 86.4% 87.6% 76/88 1
Paratyphoid_Fever.yaml 86.4% 87.2% 76/88
Tularemia.yaml 86.4% 86.7% 114/132
Cardiofacioneurodevelopmental_Syndrome.yaml 86.4% 86.8% 317/367
Odonto-Onycho-Dermal_Dysplasia.yaml 86.4% 88.2% 127/147
Cardiac_Valvular_Ehlers-Danlos_Syndrome.yaml 86.4% 87.6% 197/228
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_28.yaml 86.4% 87.2% 140/162
Retinitis_Pigmentosa_59.yaml 86.4% 87.3% 210/243
Chromosome_Xq_Duplication.yaml 86.4% 87.8% 255/295
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_3.yaml 86.4% 86.6% 153/177
Neuromuscular_Disease_And_Ocular_Or_Auditory_Anomalies_With_Or_Without_Seizures.yaml 86.4% 87.2% 102/118
Complement_Component_2_Deficiency.yaml 86.5% 88.3% 83/96
Immunodeficiency_Common_Variable_4.yaml 86.5% 88.1% 83/96
Ovarian_Endometrioid_Carcinoma.yaml 86.5% 88.2% 83/96
Muscular_Dystrophy_Limb-girdle_Autosomal_Recessive_28.yaml 86.5% 87.3% 179/207
Nevus_of_Ota.yaml 86.5% 88.6% 64/74
Spinocerebellar_Ataxia_Type_1.yaml 86.5% 86.8% 269/311
WWOX-Related_Developmental_and_Epileptic_Encephalopathy.yaml 86.5% 87.9% 205/237
Celiac_Disease.yaml 86.5% 87.1% 276/319
COX16-Related_COX_Deficiency.yaml 86.5% 88.7% 45/52
Chronic_Granulomatous_Disease.yaml 86.5% 87.5% 180/208
Hypercholanemia_Familial_2.yaml 86.5% 87.4% 90/104
Nestor-Guillermo_progeria_syndrome.yaml 86.5% 88.7% 45/52
Osteogenesis_Imperfecta_Type_V.yaml 86.5% 88.8% 90/104
Rotor_Syndrome.yaml 86.5% 88.9% 45/52
B4GALT1-Congenital_Disorder_of_Glycosylation.yaml 86.5% 87.3% 148/171 1
Synovial_Sarcoma.yaml 86.6% 86.2% 103/119 1
Autoimmune_Lymphoproliferative_Syndrome.yaml 86.6% 87.9% 58/67
Dementia_with_Lewy_Bodies.yaml 86.6% 87.0% 58/67
ZRS-Related_Limb_Malformation.yaml 86.6% 87.8% 174/201
Abetalipoproteinemia.yaml 86.6% 87.5% 303/350
CDKL5_Deficiency_Disorder.yaml 86.6% 87.1% 400/462 1
Hereditary_Hyperekplexia.yaml 86.6% 87.9% 200/231
CAMLG-CDG.yaml 86.6% 87.3% 213/246
Leiomyosarcoma.yaml 86.6% 88.3% 71/82
Sulfur_Mustard_Poisoning.yaml 86.6% 87.6% 284/328
Epidermolytic_Hyperkeratosis_2.yaml 86.6% 87.3% 168/194 1
FLT3_Mutant_AML.yaml 86.6% 88.6% 97/112
Familial_Congenital_Mirror_Movements.yaml 86.6% 88.4% 97/112
Microcephaly_Short_Stature_and_Impaired_Glucose_Metabolism_2.yaml 86.6% 87.9% 194/224
Craniometaphyseal_Dysplasia.yaml 86.6% 87.7% 246/284
Lennox-Gastaut_Syndrome.yaml 86.6% 86.3% 214/247 1
DEGCAGS_Syndrome.yaml 86.6% 87.4% 344/397
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_68.yaml 86.7% 86.7% 182/210 1
COX18-Related_COX_Deficiency.yaml 86.7% 89.1% 39/45
Cholesteryl_Ester_Storage_Disease.yaml 86.7% 89.3% 52/60
Hypertrophic_Cardiomyopathy_11.yaml 86.7% 89.6% 52/60
Intellectual_Developmental_Disorder_X-linked_114.yaml 86.7% 87.1% 208/240
Isolated_Growth_Hormone_Deficiency_Type_IA.yaml 86.7% 85.4% 78/90 2
Long-Chain_3-Hydroxyacyl-CoA_Dehydrogenase_Deficiency.yaml 86.7% 88.0% 182/210
Long_QT_Syndrome.yaml 86.7% 87.4% 299/345 4
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml 86.7% 88.3% 65/75
TEX11-related_spermatogenic_failure.yaml 86.7% 88.8% 65/75
8p_Inverted_Duplication_Deletion_Syndrome.yaml 86.7% 87.7% 306/353
Congenital_Heart_Defects_and_Skeletal_Malformations_Syndrome.yaml 86.7% 87.8% 254/293
Leukoencephalopathy_With_Vanishing_White_Matter.yaml 86.7% 86.7% 202/233 4
Familial_Nonmedullary_Thyroid_Carcinoma.yaml 86.7% 87.3% 333/384
Keratoconus.yaml 86.7% 87.3% 196/226 1
Hajdu-Cheney_Syndrome.yaml 86.7% 88.6% 85/98
Griscelli_Syndrome_Type_2.yaml 86.7% 88.9% 72/83
Spondylocarpotarsal_Synostosis_Syndrome.yaml 86.8% 88.3% 131/151
Charcot-Marie-Tooth_Disease_Type_4D.yaml 86.8% 87.5% 249/287
Multiple_Mitochondrial_Dysfunctions_Syndrome_1.yaml 86.8% 87.1% 177/204 1
Neuronal_Ceroid_Lipofuscinosis_1.yaml 86.8% 89.4% 59/68
UCHL1-Related_Neurodegeneration_with_Optic_Atrophy_and_Spastic_Paraplegia.yaml 86.8% 87.7% 223/257
TUBB4A-related_Neurologic_Disorder.yaml 86.8% 87.5% 210/242
Hypereosinophilic_Syndrome.yaml 86.8% 88.4% 151/174
Brody_Myopathy.yaml 86.8% 86.2% 276/318 1
Darier_Disease.yaml 86.8% 88.6% 92/106
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_35.yaml 86.8% 87.2% 158/182
GUCY2D-Related_Retinopathy.yaml 86.8% 89.6% 79/91
Histiocytoid_Cardiomyopathy.yaml 86.8% 86.8% 237/273 1
Omphalocele.yaml 86.8% 88.0% 79/91
White-Sutton_Syndrome.yaml 86.8% 87.8% 237/273
Liposarcoma.yaml 86.8% 88.0% 112/129
Multisystem_Inflammatory_Syndrome_in_Children_MIS-C.yaml 86.8% 87.3% 211/243 1
Atrial_Standstill.yaml 86.8% 88.2% 165/190
FLVCR1-Related_Retinopathy.yaml 86.8% 89.3% 66/76
Hepatosplenic_T_Cell_Lymphoma.yaml 86.8% 88.5% 99/114
Selective_IgM_Deficiency.yaml 86.8% 88.7% 66/76
Nasu-Hakola_Disease.yaml 86.9% 88.3% 152/175
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_3A.yaml 86.9% 87.9% 119/137
MICPCH_Syndrome.yaml 86.9% 87.8% 238/274
SLC1A2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 86.9% 87.6% 172/198 2
Congenital_Hypomyelinating_Neuropathy.yaml 86.9% 88.1% 106/122
Distal_Hereditary_Motor_Neuronopathy_Autosomal_Dominant.yaml 86.9% 88.1% 159/183
Orofaciodigital_Syndrome_17.yaml 86.9% 89.6% 53/61
BPTF-Related_Neurodevelopmental_Disorder.yaml 86.9% 87.6% 338/389 1
HCN1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 86.9% 89.6% 73/84
IGF1_Deficiency.yaml 86.9% 88.8% 73/84
Polycythemia_Vera.yaml 86.9% 87.8% 146/168 1
Lethal_Polymalformative_Syndrome_Boissel_Type.yaml 86.9% 88.0% 239/275
Neonatal_Diabetes_Mellitus_With_Congenital_Hypothyroidism.yaml 86.9% 88.0% 206/237
FBXL4-Related_Mitochondrial_DNA_Depletion_Syndrome.yaml 86.9% 87.4% 346/398
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_1.yaml 86.9% 87.3% 193/222
Weill-Marchesani_Syndrome.yaml 86.9% 87.4% 253/291
Dilated_Cardiomyopathy_1R.yaml 87.0% 87.5% 140/161
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_25.yaml 87.0% 87.6% 167/192
Anauxetic_Dysplasia.yaml 87.0% 88.4% 214/246
Shashi-Pena_Syndrome.yaml 87.0% 88.7% 107/123
Paranasal_Sinus_Squamous_Cell_Carcinoma.yaml 87.0% 88.7% 87/100
Complex_Hereditary_Spastic_Paraplegia.yaml 87.0% 88.1% 469/539
Fragile_X-Associated_Tremor_Ataxia_Syndrome.yaml 87.0% 88.6% 134/154
Hepatitis_D.yaml 87.0% 88.5% 67/77
Myocarditis.yaml 87.0% 87.5% 275/316
LETM1-Related_Childhood-Onset_Neurodegeneration.yaml 87.0% 88.2% 235/270
SETD1A-Related_Early-Onset_Epilepsy.yaml 87.0% 87.6% 141/162
Dilated_Cardiomyopathy_1GG.yaml 87.1% 87.9% 121/139
Short_QT_Syndrome.yaml 87.1% 87.9% 121/139
Hypopigmentation_Organomegaly_And_Delayed_Myelination_And_Development.yaml 87.1% 87.7% 148/170
Primary_Ciliary_Dyskinesia_30.yaml 87.1% 88.1% 148/170
Melanoma_in_Congenital_Melanocytic_Nevus.yaml 87.1% 86.3% 128/147 2
Gastric_Adenocarcinoma.yaml 87.1% 87.6% 364/418
Gnathodiaphyseal_Dysplasia.yaml 87.1% 87.5% 236/271 1
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_4B.yaml 87.1% 87.7% 108/124
Buruli_Ulcer.yaml 87.1% 85.9% 54/62
COX8A-Related_COX_Deficiency.yaml 87.1% 90.3% 27/31
Narcolepsy-Cataplexy_Syndrome.yaml 87.1% 88.7% 81/93
Dilated_Cardiomyopathy_1A.yaml 87.1% 87.5% 345/396
Dilated_Cardiomyopathy_1U.yaml 87.1% 87.8% 115/132
Marfan_Syndrome.yaml 87.1% 86.7% 264/303 2
Progressive_Myoclonic_Epilepsy_Type_7.yaml 87.1% 89.4% 88/101
THOC2-Related_Intellectual_Disability.yaml 87.1% 87.7% 237/272
Prader-Willi_Syndrome.yaml 87.1% 87.6% 210/241
Rumination_Disorder.yaml 87.1% 88.3% 61/70
Dilated_Cardiomyopathy_1FF.yaml 87.2% 88.5% 156/179
Vascular_Ehlers-Danlos_Syndrome.yaml 87.2% 88.3% 95/109
Hypomyelinating_Leukodystrophy_12.yaml 87.2% 88.3% 102/117
Immunodeficiency_105.yaml 87.2% 88.8% 68/78
Neurodevelopmental_Disorder_with_Severe_Motor_Impairment_and_Absent_Language.yaml 87.2% 88.5% 136/156
Paroxysmal_Familial_Ventricular_Fibrillation.yaml 87.2% 90.9% 68/78
Primary_Triglyceride_Deposit_Cardiomyovasculopathy.yaml 87.2% 91.0% 34/39
Myasthenia_Gravis.yaml 87.2% 88.3% 211/242
SPTBN4-Related_Neurodevelopmental_Disorder.yaml 87.2% 88.8% 286/328
Aromatic_L_Amino_Acid_Decarboxylase_Deficiency.yaml 87.2% 87.3% 368/422
Dentici-Novelli_neurodevelopmental_syndrome.yaml 87.2% 89.2% 75/86
TUBA4A-related_Disorder.yaml 87.2% 88.2% 75/86
Simpson-Golabi-Behmel_Syndrome_Type_1.yaml 87.2% 88.5% 116/133
LIFR-Related_Stuve-Wiedemann_Syndrome.yaml 87.2% 88.4% 198/227 1
Combined_Oxidative_Phosphorylation_Deficiency_28.yaml 87.2% 87.9% 123/141
Diethylene_Glycol_Poisoning.yaml 87.2% 88.2% 164/188
Juvenile_Paget_Disease.yaml 87.2% 88.3% 164/188
Spinal_Muscular_Atrophy_with_Respiratory_Distress_Type_1.yaml 87.2% 89.3% 82/94
Cone-rod_Dystrophy_And_Hearing_Loss_1.yaml 87.3% 88.1% 89/102
Otofacial_Neurodevelopmental_Syndrome.yaml 87.3% 89.2% 178/204
TRIM28-Related_Wilms_Tumor_Predisposition.yaml 87.3% 87.8% 89/102
TRIO-Related_Neurodevelopmental_Disorder.yaml 87.3% 90.0% 89/102
Obesity.yaml 87.3% 88.3% 185/212
Temple-Baraitser_Syndrome.yaml 87.3% 88.8% 144/165
Neurodevelopmental_Disorder_with_Epilepsy_Spasticity_and_Brain_Atrophy.yaml 87.3% 88.2% 295/338
Pelger-Huet-like_Anomaly_And_Episodic_Fever_With_Abdominal_Pain.yaml 87.3% 88.5% 158/181
PIK3CA_Mutant_Breast_Cancer.yaml 87.3% 91.0% 55/63
Autosomal_Recessive_Robinow_Syndrome.yaml 87.3% 88.1% 413/473 1
HNRNPU-Related_Developmental_and_Epileptic_Encephalopathy.yaml 87.3% 88.3% 179/205
Koolen_de_Vries_syndrome.yaml 87.3% 89.5% 62/71
Avascular_Necrosis_Of_Femoral_Head_Primary_2.yaml 87.3% 87.0% 138/158
Bietti_Crystalline_Dystrophy.yaml 87.3% 89.8% 69/79
FLNC-Related_Dilated_Cardiomyopathy.yaml 87.3% 90.9% 69/79
Fragile_X-Associated_Primary_Ovarian_Insufficiency.yaml 87.3% 88.9% 138/158
Esophageal_Squamous_Cell_Carcinoma.yaml 87.3% 88.4% 145/166
Black_Widow_Spider_Envenomation.yaml 87.4% 88.0% 152/174
Acute_Motor_and_Sensory_Axonal_Neuropathy.yaml 87.4% 88.1% 235/269
Intracranial_Berry_Aneurysm.yaml 87.4% 90.0% 83/95
Aniridia.yaml 87.4% 90.3% 173/198
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_17.yaml 87.4% 88.2% 90/103
LPIN1-Related_Recurrent_Myoglobinuria.yaml 87.4% 87.1% 180/206 2
McKusick-Kaufman_Syndrome.yaml 87.4% 88.9% 90/103
CINCA_Syndrome.yaml 87.4% 87.6% 277/317 2
Mitochondrial_DNA_Depletion_Syndrome_Myopathic_Form.yaml 87.4% 87.4% 305/349
Ischemic_Stroke.yaml 87.4% 88.9% 104/119
Adamantinoma.yaml 87.4% 88.1% 111/127 1
Hypertrophic_Cardiomyopathy_15.yaml 87.4% 88.2% 111/127
Weiss-Kruszka_Syndrome.yaml 87.4% 89.0% 118/135
Corneal_Dystrophy.yaml 87.4% 88.9% 132/151
Complex_Regional_Pain_Syndrome_Type_1.yaml 87.4% 87.9% 139/159
Down_syndrome.yaml 87.4% 88.3% 146/167
RARB-related_syndromic_microphthalmia.yaml 87.4% 89.0% 174/199
Central_Core_Myopathy.yaml 87.4% 88.7% 181/207
SAPHO_Syndrome.yaml 87.4% 87.5% 209/239 2
Idiopathic_Multicentric_Castleman_Disease.yaml 87.5% 88.0% 335/383
Blepharophimosis-Impaired_Intellectual_Development_Syndrome.yaml 87.5% 89.4% 105/120
Cardiofaciocutaneous_Syndrome.yaml 87.5% 88.8% 119/136
Chronic_Pancreatitis.yaml 87.5% 87.9% 91/104
Combined_Immunodeficiency_Due_To_DOCK8_Deficiency.yaml 87.5% 88.2% 273/312
Craniofacial_Microsomia.yaml 87.5% 88.6% 245/280
Dorsalgia.yaml 87.5% 100.0% 7/8
E-Cigarette_or_Vaping_Product_Use-Associated_Lung_Injury.yaml 87.5% 88.6% 105/120
Leigh_Syndrome.yaml 87.5% 89.2% 147/168
Lichen_Simplex_Chronicus.yaml 87.5% 100.0% 7/8
MED13L_Syndrome.yaml 87.5% 87.4% 329/376 1
Postinfectious_Vasculitis.yaml 87.5% 90.3% 77/88
Schwannoma.yaml 87.5% 89.2% 98/112
UBA5-Related_Developmental_and_Epileptic_Encephalopathy.yaml 87.5% 89.0% 175/200
Uveitis.yaml 87.5% 88.4% 154/176 1
Advanced_Sleep_Phase_Syndrome.yaml 87.5% 87.3% 316/361 2
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_50.yaml 87.6% 86.6% 211/241 1
Xeroderma_Pigmentosum.yaml 87.6% 88.2% 176/201
GUCA1A-Related_Retinopathy.yaml 87.6% 88.5% 141/161
Dientamoebiasis.yaml 87.6% 88.9% 134/153
Epilepsy_with_Generalized_Tonic-Clonic_Seizures_Alone.yaml 87.6% 88.0% 134/153 1
Glanzmann_Thrombasthenia.yaml 87.6% 89.1% 134/153
Mayer-Rokitansky-Kuster-Hauser_Syndrome.yaml 87.6% 88.0% 261/298
Cori_Forbes_Disease.yaml 87.6% 88.7% 120/137
Argininosuccinic_Aciduria.yaml 87.6% 87.5% 233/266
Central_Serous_Chorioretinopathy.yaml 87.6% 89.6% 106/121
Left_Ventricular_Noncompaction_10.yaml 87.6% 87.5% 205/234 1
Familial_Sick_Sinus_Syndrome.yaml 87.6% 89.1% 99/113
Hepatic_Fibrinogen_Storage_Disease.yaml 87.6% 89.0% 99/113
CATSHL_Syndrome.yaml 87.6% 88.3% 283/323
Charcot-Marie-Tooth_Disease_Recessive_Intermediate_D.yaml 87.6% 89.5% 92/105
Hereditary_Sensory_and_Autonomic_Neuropathy.yaml 87.6% 89.8% 92/105
DEE_with_Spike-Wave_Activation_in_Sleep.yaml 87.6% 88.9% 149/170
Congenital_Tufting_Enteropathy.yaml 87.7% 89.6% 71/81
COX4I1-Related_COX_Deficiency.yaml 87.7% 90.1% 64/73
Dissociative_Identity_Disorder.yaml 87.7% 89.5% 64/73
MYO6_Hearing_Loss.yaml 87.7% 88.1% 64/73 1
Normal_Pressure_Hydrocephalus.yaml 87.7% 87.7% 128/146 1
TUBA1A-related_Tubulinopathy.yaml 87.7% 88.4% 128/146 2
Diastrophic_Dysplasia.yaml 87.7% 88.5% 178/203
Dyskeratosis_Congenita.yaml 87.7% 88.1% 413/471
Immunodeficiency_92.yaml 87.7% 89.0% 114/130
Loeys-Dietz_Syndrome_6.yaml 87.7% 88.5% 171/195
Renal_Tubular_Acidosis_Distal_2_With_Progressive_Sensorineural_Hearing_Loss.yaml 87.7% 88.8% 114/130
COQ4-Related_Neonatal_Encephalomyopathy.yaml 87.7% 88.4% 221/252
Multiple_Mitochondrial_Dysfunctions_Syndrome_5.yaml 87.7% 88.9% 164/187
Hereditary_Spastic_Paraplegia_44.yaml 87.7% 87.9% 107/122
Kariminejad_Neurodevelopmental_Syndrome.yaml 87.7% 88.8% 107/122
Gestational_Diabetes_Mellitus.yaml 87.7% 89.0% 93/106
PMM2-Congenital_Disorder_of_Glycosylation.yaml 87.7% 88.8% 179/204
Spinocerebellar_Ataxia_27B.yaml 87.7% 89.6% 179/204
GNE_Myopathy.yaml 87.8% 88.2% 172/196
Inborn_Disorder_of_Cobalamin_Metabolism_and_Transport.yaml 87.8% 89.5% 172/196
Lambert-Eaton_Myasthenic_Syndrome.yaml 87.8% 88.8% 86/98
NUP62-Related_Infantile_Bilateral_Striatal_Necrosis.yaml 87.8% 90.1% 43/49
Severe_Congenital_Neutropenia_7_Autosomal_Recessive.yaml 87.8% 88.7% 122/139
Sweet_Syndrome.yaml 87.8% 88.7% 122/139
Sea-Blue_Histiocyte_Syndrome.yaml 87.8% 89.5% 79/90
Combined_Oxidative_Phosphorylation_Defect_Type_37.yaml 87.8% 88.6% 115/131
Neonatal_Epileptic_Encephalopathy_Due_to_Glutaminase_Deficiency.yaml 87.8% 89.2% 115/131
CD25_Deficiency.yaml 87.8% 87.9% 417/475 1
X-linked_Hypohidrotic_Ectodermal_Dysplasia.yaml 87.8% 88.9% 151/172
Hypertrophic_Cardiomyopathy_8.yaml 87.8% 88.3% 187/213 1
Aconitine_Poisoning.yaml 87.8% 89.4% 144/164
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_48.yaml 87.8% 87.6% 180/205
Follicular_Lymphoma.yaml 87.8% 88.5% 144/164
Hypertrophic_Cardiomyopathy_7.yaml 87.8% 88.3% 209/238
Immunodeficiency_93_and_Hypertrophic_Cardiomyopathy.yaml 87.8% 88.8% 173/197
Abdominal_Aortic_Aneurysm.yaml 87.8% 88.4% 137/156
McLeod_Neuroacanthocytosis_Syndrome.yaml 87.8% 89.5% 137/156
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_93.yaml 87.8% 87.9% 166/189 1
Glycogen_Storage_Disease_Type_0a.yaml 87.8% 88.1% 166/189
Essential_Tremor.yaml 87.9% 88.8% 94/107
Severe_X-linked_Intellectual_Disability_Gustavson_Type.yaml 87.9% 88.9% 123/140
Nipah_Virus_Disease.yaml 87.9% 88.2% 152/173
Diamond-Blackfan_Anemia_14_With_Mandibulofacial_Dysostosis.yaml 87.9% 87.8% 210/239
Astrakhan_Spotted_Fever.yaml 87.9% 89.7% 58/66
Clear_Cell_Ovarian_Carcinoma.yaml 87.9% 90.0% 58/66
Interleukin-10_Receptor_Deficiency.yaml 87.9% 90.0% 58/66
Pertussis.yaml 87.9% 88.6% 87/99
TBX6-Associated_Congenital_Scoliosis.yaml 87.9% 91.7% 29/33
LCA5-Related_Retinopathy.yaml 87.9% 91.2% 80/91
Parkinsons_Disease.yaml 87.9% 88.2% 662/753 2
CYB561-Related_Orthostatic_Hypotension.yaml 87.9% 87.4% 131/149 1
Hypertrophic_Cardiomyopathy_10.yaml 88.0% 88.3% 219/249
Cadmium_Poisoning.yaml 88.0% 87.9% 336/382 1
Epilepsy_with_Myoclonic_Atonic_Seizures.yaml 88.0% 90.1% 95/108
Malignant_Non_Dysgerminomatous_Germ_Cell_Tumor_Of_Ovary.yaml 88.0% 87.9% 117/133 1
Megacystis-Microcolon-Intestinal_Hypoperistalsis_Syndrome_2.yaml 88.0% 87.3% 139/158 1
TRAPPC12-Related_Encephalopathy.yaml 88.0% 88.8% 271/308
DICER1_Tumor_Predisposition_Syndrome.yaml 88.0% 89.6% 66/75
Duchenne_Muscular_Dystrophy.yaml 88.0% 88.5% 352/400 3
KRT1_Keratinopathies.yaml 88.0% 90.5% 88/100
Morgagni-Stewart-Morel_Syndrome.yaml 88.0% 88.7% 132/150
Niemann-Pick_Disease_Type_A.yaml 88.0% 90.2% 66/75
STRA6-related_syndromic_microphthalmia.yaml 88.0% 89.8% 81/92
X-linked_Retinoschisis.yaml 88.0% 90.2% 81/92
CAPN5-Related_Vitreoretinopathy.yaml 88.1% 89.3% 118/134
Central_Retinal_Artery_Occlusion.yaml 88.1% 89.4% 59/67
Chromosome_1p36_Deletion_Syndrome.yaml 88.1% 90.5% 59/67
Combined_Oxidative_Phosphorylation_Defect_Type_15.yaml 88.1% 89.8% 59/67
Oculocerebrodental_Syndrome.yaml 88.1% 90.1% 59/67
Angiosarcoma.yaml 88.1% 88.1% 192/218
TRAF3_Haploinsufficiency.yaml 88.1% 89.6% 133/151
ACAN-Related_Short_Stature_Spectrum.yaml 88.1% 88.2% 207/235
Cystic_Echinococcosis.yaml 88.1% 87.6% 74/84
Frias_Syndrome.yaml 88.1% 90.1% 111/126
Primary_Progressive_Apraxia_of_Speech.yaml 88.1% 90.6% 37/42
Spermatogenic_Failure_43.yaml 88.1% 88.6% 111/126
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_30.yaml 88.1% 88.3% 126/143
RHOBTB2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 88.1% 89.4% 126/143
CAPRIN1_Related_Neurodevelopmental_Disorder.yaml 88.1% 89.2% 341/387
Cauda_Equina_Syndrome.yaml 88.1% 89.1% 89/101 1
Spondyloepimetaphyseal_Dysplasia_Maroteaux_Type.yaml 88.1% 89.6% 89/101
Guillouet-Gordon_Syndrome.yaml 88.1% 90.6% 52/59
Keratitis-Ichthyosis-Deafness_Syndrome.yaml 88.1% 89.3% 208/236
Platelet-type_Bleeding_Disorder_8.yaml 88.1% 90.4% 52/59
Molybdenum_Cofactor_Deficiency_Type_A.yaml 88.1% 89.7% 119/135
Thrombocytopenia_11_with_Multiple_Congenital_Anomalies_and_Dysmorphic_Facies.yaml 88.1% 90.0% 119/135
Brachydactyly_Type_B2.yaml 88.2% 90.0% 67/76
Congenital_Disorder_of_Glycosylation_Type_IIw.yaml 88.2% 89.1% 134/152
Crigler-Najjar_Syndrome.yaml 88.2% 90.0% 67/76
Cushing_Disease.yaml 88.2% 89.7% 149/169
Marshall_Syndrome.yaml 88.2% 88.9% 149/169
D-Bifunctional_Protein_Deficiency.yaml 88.2% 89.6% 82/93
NR5A1_Related_Sex_Development_Disorder.yaml 88.2% 89.2% 164/186
TGFBI_Corneal_Dystrophies.yaml 88.2% 89.5% 82/93
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_97.yaml 88.2% 88.8% 112/127
Diamond-Blackfan_Anemia_15_With_Mandibulofacial_Dysostosis.yaml 88.2% 89.2% 127/144
Exfoliation_Syndrome.yaml 88.2% 88.5% 254/288
Neurodevelopmental_Disorder_with_Neuromuscular_and_Skeletal_Abnormalities.yaml 88.2% 89.4% 254/288
PGM1-Congenital_Disorder_of_Glycosylation.yaml 88.2% 89.4% 344/390
Autosomal_Dominant_Polycystic_Kidney_Disease.yaml 88.2% 89.0% 195/221
Craniofacial-Deafness-Hand_Syndrome.yaml 88.2% 90.1% 165/187
Linear_Skin_Defects_with_Multiple_Congenital_Anomalies_1.yaml 88.2% 90.2% 120/136
Mulibrey_Nanism.yaml 88.2% 88.8% 165/187
Oculoglandular_Tularemia.yaml 88.2% 89.9% 60/68
Spinocerebellar_Ataxia_Type_6.yaml 88.2% 89.1% 120/136
Thrombophilia.yaml 88.3% 88.6% 203/230
Peutz_Jeghers_polyp.yaml 88.3% 90.1% 143/162
XFE_Progeroid_Syndrome.yaml 88.3% 89.1% 128/145
Hydatidiform_Mole.yaml 88.3% 89.3% 113/128
Sezary_Syndrome.yaml 88.3% 88.8% 113/128
Toxic_Oil_Syndrome.yaml 88.3% 88.9% 211/239
Maroteaux-Lamy_syndrome.yaml 88.3% 89.7% 98/111
Genital_Lichen_Sclerosus.yaml 88.3% 89.4% 83/94
KLC4-Related_Early-Childhood-Onset_Neurodegeneration.yaml 88.3% 88.7% 83/94
DK1-congenital_disorder_of_glycosylation.yaml 88.3% 89.3% 136/154
Dilated_Cardiomyopathy_2B.yaml 88.3% 89.1% 204/231
Gas_Gangrene.yaml 88.3% 90.2% 68/77
Chronic_Primary_Adrenal_Insufficiency.yaml 88.3% 89.7% 121/137
PRPS1_Superactivity.yaml 88.3% 89.1% 121/137
Skeletal_Fluorosis.yaml 88.3% 87.5% 333/377
COX20-Related_COX_Deficiency.yaml 88.3% 90.0% 53/60
Choroideremia.yaml 88.3% 91.4% 53/60
Klinefelter_Syndrome.yaml 88.3% 88.1% 159/180 1
Piebaldism.yaml 88.3% 90.5% 53/60
Platelet-type_Bleeding_Disorder_16.yaml 88.3% 88.8% 212/240
Green_Tobacco_Sickness.yaml 88.4% 88.8% 129/146
Autosomal_Dominant_Mendelian_Susceptibility_To_Mycobacterial_Diseases_Due_To_Partial_IFNgammaR1_Deficiency.yaml 88.4% 87.9% 167/189 1
Familial_Thoracic_Aortic_Aneurysm_and_Aortic_Dissection.yaml 88.4% 89.9% 167/189 1
Deafness_Dystonia_and_Cerebral_Hypomyelination.yaml 88.4% 89.4% 152/172
Donnai-Barrow_syndrome.yaml 88.4% 89.9% 114/129
Immunodeficiency_91_And_Hyperinflammation.yaml 88.4% 89.9% 152/172
Osteogenesis_Imperfecta_Type_IV.yaml 88.4% 89.1% 114/129
Spermatogenic_Failure_98.yaml 88.4% 89.8% 76/86
Testicular_Sex_Cord_Stromal_Neoplasm.yaml 88.4% 90.8% 114/129
Vici_Syndrome.yaml 88.4% 89.6% 228/258
SOX11-Related_Neurodevelopmental_Disorder.yaml 88.4% 89.5% 251/284
Familial_Atrial_Fibrillation.yaml 88.4% 88.9% 198/224
Immunodeficiency_97_With_Autoinflammation.yaml 88.4% 89.6% 99/112
PUS3-Related_Neurodevelopmental_Disorder.yaml 88.4% 89.9% 198/224
Marshall-Smith_Syndrome.yaml 88.4% 90.0% 122/138
Muscular_Dystrophy_Congenital_Hearing_Loss_And_Ovarian_Insufficiency_Syndrome.yaml 88.4% 89.3% 244/276
Familial_Exudative_Vitreoretinopathy.yaml 88.4% 89.7% 206/233
Brachydactyly_Type_B1.yaml 88.4% 89.7% 84/95
Autosomal_Dominant_Hypocalcemia_1.yaml 88.4% 88.8% 214/242
SLC35A1-Congenital_Disorder_of_Glycosylation.yaml 88.4% 89.9% 107/121
Bronchiectasis_With_Or_Without_Elevated_Sweat_Chloride_1.yaml 88.5% 89.5% 92/104 1
Maculopapular_Cutaneous_Mastocytosis.yaml 88.5% 90.0% 92/104
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_31.yaml 88.5% 90.4% 115/130
Opitz_GBBB_Syndrome.yaml 88.5% 90.4% 92/104
Spasticity-Ataxia-Gait_Anomalies_Syndrome.yaml 88.5% 90.7% 69/78
Brain_Abnormalities_Neurodegeneration_and_Dysosteosclerosis.yaml 88.5% 89.4% 261/295
Systemic_Lupus_Erythematosus.yaml 88.5% 87.6% 461/521 3
Hyperkalemic_Periodic_Paralysis.yaml 88.5% 88.7% 231/261 2
Acute_Ackee_Fruit_Intoxication.yaml 88.5% 87.9% 285/322
Dominant_Beta-Thalassemia.yaml 88.5% 90.0% 108/122
HOIP_Deficiency.yaml 88.5% 89.3% 270/305
KCNV2_Related_Retinopathy.yaml 88.5% 91.3% 54/61
Liver_Cirrhosis.yaml 88.5% 89.1% 216/244
Neurodevelopmental_Disorder_with_Microcephaly_Seizures_and_Cortical_Atrophy.yaml 88.5% 90.0% 216/244
Trisomy_X.yaml 88.5% 90.9% 54/61
FG_Syndrome_4.yaml 88.5% 90.1% 85/96
Thiopurine_S-methyltransferase_Deficiency.yaml 88.5% 89.6% 85/96
IgA_Vasculitis.yaml 88.5% 89.9% 116/131
GRIN1-Related_Neurodevelopmental_Disorder.yaml 88.6% 90.9% 147/166
SLC6A1-Related_Disorder.yaml 88.6% 90.0% 147/166 2
Asbestosis.yaml 88.6% 89.0% 178/201 1
Alexander_Disease.yaml 88.6% 88.7% 248/280
Chronic_Inflammatory_Demyelinating_Polyneuropathy.yaml 88.6% 90.8% 62/70
Human_Papillomavirus_Infection.yaml 88.6% 89.6% 93/105
Microvillus_Inclusion_Disease.yaml 88.6% 90.7% 62/70
Renal_Agenesis.yaml 88.6% 89.7% 124/140
Osteoporosis.yaml 88.6% 88.3% 233/263 1
Severe_Combined_Immunodeficiency_Due_To_CORO1A_Deficiency.yaml 88.6% 89.5% 241/272
Clear_Cell_Sarcoma.yaml 88.6% 89.5% 70/79
Papular_Xanthoma.yaml 88.6% 90.2% 39/44
Postcricoid_Region_Cancer.yaml 88.6% 90.0% 78/88
Spastic_Paraplegia_89_Autosomal_Recessive.yaml 88.6% 89.9% 117/132
MEGF8-Related_Carpenter_Syndrome.yaml 88.7% 90.5% 125/141
Leber_Congenital_Amaurosis_9.yaml 88.7% 89.5% 133/150
Bartter_Syndrome.yaml 88.7% 89.5% 313/353
Mowat-Wilson_syndrome.yaml 88.7% 90.0% 94/106
Primary_Hyperoxaluria_Type_1.yaml 88.7% 89.7% 47/53
Schinzel-Giedion_Syndrome.yaml 88.7% 88.8% 47/53
Yao_Syndrome.yaml 88.7% 88.2% 235/265 1
Mendelian_Susceptibility_To_Mycobacterial_Diseases_Due_To_Complete_IL12B_Deficiency.yaml 88.7% 87.9% 102/115 1
MECP2_Duplication_Syndrome.yaml 88.7% 89.4% 110/124
PRPF31-Related_Retinopathy.yaml 88.7% 91.5% 55/62
Ochoa_Syndrome.yaml 88.7% 89.9% 134/151
CDH2-Related_ACOG_Syndrome.yaml 88.8% 90.4% 213/240
CHIME_syndrome.yaml 88.8% 90.6% 71/80
Dysembryoplastic_Neuroepithelial_Tumor.yaml 88.8% 89.8% 71/80 2
Dilated_Cardiomyopathy_1Z.yaml 88.8% 90.0% 221/249
Intellectual_Disability_Autosomal_Dominant_6.yaml 88.8% 90.3% 150/169
Dilated_Cardiomyopathy_1NN.yaml 88.8% 90.4% 87/98
EGFR_Mutant_NSCLC.yaml 88.8% 88.7% 206/232
Pontiac_Fever.yaml 88.8% 89.0% 103/116
Dilated_Cardiomyopathy_1P.yaml 88.8% 89.4% 214/241
Early-Infantile_Developmental_and_Epileptic_Encephalopathy.yaml 88.8% 89.2% 238/268 2
Eiken_Syndrome.yaml 88.8% 89.9% 119/134
IFAP_Syndrome_1.yaml 88.8% 90.1% 119/134
Progressive_Familial_Intrahepatic_Cholestasis.yaml 88.8% 89.7% 397/447
Epidermolysis_Bullosa_Simplex_7_With_Nephropathy_And_Deafness.yaml 88.8% 89.0% 159/179
Organophosphate_Poisoning.yaml 88.8% 89.5% 175/197
Dilated_Cardiomyopathy_1W.yaml 88.8% 89.6% 223/251 1
Fatal_Familial_Insomnia.yaml 88.8% 89.8% 239/269
MERRF_Syndrome.yaml 88.8% 89.9% 247/278
Autism_Susceptibility_to_X-Linked_3.yaml 88.9% 90.0% 80/90
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_124.yaml 88.9% 89.4% 168/189
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_26.yaml 88.9% 89.1% 96/108
Chronic_Traumatic_Encephalopathy.yaml 88.9% 89.9% 40/45
Congenital_Diaphragmatic_Hernia.yaml 88.9% 89.3% 312/351
Developmental_Delay_Hypotonia_Musculoskeletal_Defects_And_Behavioral_Abnormalities.yaml 88.9% 90.3% 136/153
Hypertrophic_Cardiomyopathy_9.yaml 88.9% 90.6% 88/99
Hypophosphatasia.yaml 88.9% 89.3% 200/225
Immunodeficiency_11B_With_Atopic_Dermatitis.yaml 88.9% 90.2% 200/225
Lysosomal_Acid_Phosphatase_Deficiency.yaml 88.9% 92.7% 24/27
Marginal_Zone_Lymphoma.yaml 88.9% 90.8% 48/54
Meester-Loeys_Syndrome.yaml 88.9% 89.0% 88/99 1
Sphingosine_Phosphate_Lyase_Insufficiency_Syndrome.yaml 88.9% 89.7% 248/279
neuroferritinopathy.yaml 88.9% 89.7% 96/108
Pancreatic_Ductal_Adenocarcinoma.yaml 88.9% 88.8% 506/569 3
Peroxisome_Biogenesis_Disorder_11A_Zellweger.yaml 88.9% 89.7% 225/253
Fuchs_Endothelial_Corneal_Dystrophy.yaml 89.0% 89.6% 153/172
Neurofibromatosis.yaml 89.0% 90.3% 145/163
Familial_Cold_Autoinflammatory_Syndrome.yaml 89.0% 89.9% 137/154
Intermediate_Charcot-Marie-Tooth_Disease.yaml 89.0% 90.7% 137/154
Protein_S_Deficiency.yaml 89.0% 89.7% 137/154
Gout.yaml 89.0% 89.7% 129/145
CAPOS_Syndrome.yaml 89.0% 90.2% 218/245 2
PAPA_Syndrome.yaml 89.0% 90.5% 105/118
Ring_Chromosome_14.yaml 89.0% 89.8% 186/209 1
Isolated_Anophthalmia-Microphthalmia_Syndrome.yaml 89.0% 89.5% 364/409
Greenberg_Dysplasia.yaml 89.0% 90.1% 89/100
Spondyloepiphyseal_Dysplasia_Kondo-Fu_Type.yaml 89.0% 89.8% 170/191 1
Autosomal_Recessive_Optic_Atrophy_OPA7_Type.yaml 89.0% 88.5% 162/182
Autosomal_Recessive_Spinocerebellar_Ataxia_15.yaml 89.0% 90.1% 154/173
ZAP70_Deficiency.yaml 89.0% 89.1% 227/255 1
Nail-patella_Syndrome.yaml 89.0% 90.1% 146/164
Hyperostosis_Cranialis_Interna.yaml 89.0% 89.8% 138/155
Neurooculorenal_Syndrome.yaml 89.0% 90.1% 138/155
Chronic_Canaliculitis.yaml 89.0% 90.5% 65/73
Buschke-Ollendorff_Syndrome.yaml 89.1% 88.9% 244/274 2
Hypertrophic_Cardiomyopathy_3.yaml 89.1% 89.3% 244/274 1
Emery_Dreifuss_Muscular_Dystrophy.yaml 89.1% 90.7% 179/201
Gray_Platelet_Syndrome.yaml 89.1% 89.7% 171/192
Hereditary_Pheochromocytoma-Paraganglioma_Syndrome.yaml 89.1% 90.0% 114/128
Malignant_Germ_Cell_Tumor_of_Ovary.yaml 89.1% 89.8% 269/302
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_2B.yaml 89.1% 89.0% 106/119
Combined_Oxidative_Phosphorylation_Defect_Type_26.yaml 89.1% 89.7% 147/165
Retinopathy_of_Prematurity.yaml 89.1% 90.3% 49/55
Bone_Marrow_Failure_Syndrome_4.yaml 89.1% 89.8% 327/367
Spina_Bifida_Cystica.yaml 89.1% 89.5% 139/156 1
Noonan_Syndrome_11.yaml 89.1% 90.0% 229/257
Alsahan-Harris_Syndrome.yaml 89.1% 91.2% 131/147
Alternating_Hemiplegia_of_Childhood.yaml 89.1% 89.6% 123/138
Hearing_Loss_Autosomal_Recessive_100.yaml 89.1% 90.0% 82/92
Penttinen_Premature_Aging_Syndrome.yaml 89.1% 91.2% 41/46
Chopra-Amiel-Gordon_Syndrome.yaml 89.2% 90.4% 296/332 1
Avoidant_Restrictive_Food_Intake_Disorder.yaml 89.2% 88.8% 181/203
Hypertrophic_Cardiomyopathy_26.yaml 89.2% 89.8% 214/240 1
Hereditary_Angioedema.yaml 89.2% 89.3% 387/434
Acquired_Epidermolysis_Bullosa.yaml 89.2% 89.6% 264/296
Hereditary_Pulmonary_Alveolar_Proteinosis.yaml 89.2% 89.5% 165/185
Jackson-Weiss_Syndrome.yaml 89.2% 91.1% 66/74
Neuronal_Ceroid_Lipofuscinosis_2.yaml 89.2% 91.2% 66/74
STAG3-related_gametogenic_failure.yaml 89.2% 90.7% 66/74
Congenital_Adrenal_Hyperplasia.yaml 89.2% 90.0% 190/213
Melioidosis.yaml 89.2% 89.7% 157/176
Facioscapulohumeral_Muscular_Dystrophy.yaml 89.2% 89.5% 281/315
Malignant_Hyperthermia_of_Anesthesia.yaml 89.2% 90.1% 124/139 4
Unicentric_Castleman_Disease.yaml 89.2% 91.0% 124/139
Luscan-Lumish_Syndrome.yaml 89.2% 91.0% 91/102
Chronic_Obstructive_Pulmonary_Disease.yaml 89.2% 89.2% 323/362 1
Hearing_Loss_Autosomal_Dominant_84.yaml 89.2% 88.9% 116/130 1
Hearing_Loss_Autosomal_Dominant_72.yaml 89.2% 90.1% 83/93
Epilepsy_of_Infancy_with_Migrating_Focal_Seizures.yaml 89.3% 90.4% 108/121
Mucopolysaccharidosis-Plus_Syndrome.yaml 89.3% 90.2% 258/289
Adenylosuccinate_Lyase_Deficiency.yaml 89.3% 89.5% 225/252
GRIN2B-Related_Developmental_and_Epileptic_Encephalopathy.yaml 89.3% 91.4% 100/112
Mucopolysaccharidosis_type_IX.yaml 89.3% 93.1% 50/56
Potocki-Lupski_Syndrome.yaml 89.3% 91.1% 75/84
Pseudohypoparathyroidism.yaml 89.3% 90.0% 125/140
Spinocerebellar_Ataxia_Type_8.yaml 89.3% 90.1% 150/168
Platelet-type_Bleeding_Disorder_15.yaml 89.3% 89.8% 167/187
Aspergillosis.yaml 89.3% 90.1% 284/318
Murine_Typhus.yaml 89.3% 91.0% 142/159
Kummell_Disease.yaml 89.3% 89.5% 117/131 1
Distal_Hereditary_Motor_Neuronopathy_Type_2A.yaml 89.3% 90.4% 92/103
Marchiafava_Bignami_Disease.yaml 89.3% 90.6% 92/103
Aminoglycoside-Induced_Hearing_Loss.yaml 89.3% 88.4% 251/281 1
Combined_Oxidative_Phosphorylation_Defect_Type_7.yaml 89.3% 89.7% 134/150
Autism_Spectrum_Disorder.yaml 89.3% 88.8% 218/244 2
NARP_syndrome.yaml 89.3% 89.7% 109/122 1
Brachydactyly_Type_E1.yaml 89.4% 90.4% 84/94
Congenital_Sodium_Diarrhea.yaml 89.4% 91.1% 84/94
HHV-8-Associated_Multicentric_Castleman_Disease.yaml 89.4% 91.0% 143/160 1
Invasive_Non-Typhoidal_Salmonellosis.yaml 89.4% 90.0% 177/198
MALT_Lymphoma.yaml 89.4% 90.2% 59/66
Heritable_Pulmonary_Arterial_Hypertension.yaml 89.4% 89.7% 253/283 3
Spondyloepiphyseal_Dysplasia_Congenita.yaml 89.4% 90.3% 194/217
Galloway-Mowat_Syndrome.yaml 89.4% 90.8% 211/236
Costello_Syndrome.yaml 89.4% 89.6% 169/189 1
Dental_Caries.yaml 89.4% 89.3% 93/104
Vitamin_D-Dependent_Rickets_Type_2B.yaml 89.4% 89.1% 127/142 1
3-Hydroxyisobutyryl-CoA_Hydrolase_Deficiency.yaml 89.5% 88.8% 221/247 2
Idiopathic_Spontaneous_Coronary_Artery_Dissection.yaml 89.5% 90.7% 85/95
Late_Complement_Component_Deficiency.yaml 89.5% 90.6% 136/152
Otopalatodigital_Spectrum_Disorders.yaml 89.5% 91.5% 85/95
Vitiligo.yaml 89.5% 88.4% 247/276 3
Addisons_Disease.yaml 89.5% 89.9% 179/200 1
Seckel_Syndrome.yaml 89.5% 90.5% 162/181
Tyrosinemia_Type_III.yaml 89.5% 92.3% 145/162
Silent_Sinus_Syndrome.yaml 89.5% 90.3% 128/143
Trichohepatoenteric_Syndrome.yaml 89.5% 90.8% 128/143
PHARC_syndrome.yaml 89.5% 90.3% 94/105 1
Transient_Neonatal_Pustular_Melanosis.yaml 89.5% 91.1% 77/86
Dilated_Cardiomyopathy_1BB.yaml 89.5% 90.2% 257/287
Deeah_Syndrome.yaml 89.6% 91.1% 120/134
SUCLA2-Related_Mitochondrial_DNA_Depletion_Syndrome.yaml 89.6% 89.9% 249/278
CACNA1F-Related_Retinopathy.yaml 89.6% 91.3% 86/96 1
Ectodermal_Dysplasia_and_Immunodeficiency_2.yaml 89.6% 91.3% 86/96
Karyomegalic_Interstitial_Nephritis.yaml 89.6% 89.2% 129/144 1
Bethlem_Myopathy.yaml 89.6% 89.9% 457/510
Dowling-Degos_Disease.yaml 89.6% 91.7% 69/77
Fibrosarcoma.yaml 89.6% 89.8% 69/77
Dermatosparaxis_Ehlers-Danlos_Syndrome.yaml 89.6% 89.9% 164/183 1
Cyclosporiasis.yaml 89.6% 90.2% 121/135 1
Familial_Chylomicronemia_Syndrome.yaml 89.6% 90.5% 147/164
Hypertrophic_Cardiomyopathy_2.yaml 89.7% 90.9% 104/116
Trisomy_18.yaml 89.7% 91.6% 52/58
Osteonecrosis.yaml 89.7% 90.7% 139/155
Combined_Oxidative_Phosphorylation_Defect_Type_13.yaml 89.7% 90.3% 226/252
Primary_Myelofibrosis.yaml 89.7% 90.3% 200/223 1
Aromatase_Excess_Syndrome.yaml 89.7% 90.7% 87/97
Intellectual_Developmental_Disorder_Autosomal_Recessive_67.yaml 89.7% 90.9% 148/165
VCP-associated_Multisystem_Proteinopathy.yaml 89.7% 90.3% 148/165
Wolfram_Syndrome.yaml 89.7% 90.0% 331/369
GLUT1_Deficiency_Syndrome.yaml 89.7% 89.2% 392/437 3
Ectopic_Pregnancy.yaml 89.7% 90.9% 183/204 1
NGLY1-congenital_disorder_of_deglycosylation.yaml 89.7% 90.4% 183/204
Dilated_Cardiomyopathy_1J.yaml 89.7% 90.8% 157/175
Mitochondrial_DNA_Depletion_Syndrome_3_Hepatocerebral_Type.yaml 89.7% 90.3% 288/321
Claes-Jensen_Type_X-Linked_Intellectual_Disability.yaml 89.7% 90.9% 245/273
Congenital_Primary_Megaureter.yaml 89.7% 91.2% 105/117
Fountain_Syndrome.yaml 89.7% 90.5% 105/117
IFAP_Syndrome_2.yaml 89.7% 91.4% 140/156
Developmental_And_Epileptic_Encephalopathy_116.yaml 89.8% 91.1% 149/166
Subacute_Delirium.yaml 89.8% 90.2% 149/166
Finnish_Type_Amyloidosis.yaml 89.8% 91.3% 79/88
Primary_Cutaneous_Amyloidosis.yaml 89.8% 90.9% 237/264
Scarlet_Fever.yaml 89.8% 90.5% 79/88 1
Thunderstorm_Asthma.yaml 89.8% 91.0% 79/88 1
MCM8-related_gametogenic_failure.yaml 89.8% 91.2% 88/98
Porphyria-Related_Leukoencephalopathy.yaml 89.8% 90.5% 132/147
Primary_Hyperoxaluria_Type_2.yaml 89.8% 92.4% 44/49
Diets-Jongmans_Syndrome.yaml 89.8% 91.3% 185/206
Charcot-Marie-Tooth_Disease_Axonal_Type_2C.yaml 89.8% 90.7% 97/108
Choroid_Plexus_Carcinoma.yaml 89.8% 91.1% 97/108
Leber_Congenital_Amaurosis_10.yaml 89.8% 91.2% 97/108
Congenital_Pulmonary_Airway_Malformation.yaml 89.8% 90.1% 106/118
Familial_Sleep_Related_Hypermotor_Epilepsy.yaml 89.8% 91.4% 159/177
Juvenile_Temporal_Arteritis.yaml 89.8% 89.1% 53/59 2
Pineoblastoma.yaml 89.8% 90.6% 106/118
Spinocerebellar_Ataxia_Autosomal_Recessive_32.yaml 89.8% 90.5% 318/354
DLG4-Related_Synaptopathy.yaml 89.8% 91.0% 283/315
Keutel_Syndrome.yaml 89.8% 91.0% 115/128
Oculogastrointestinal-Neurodevelopmental_Syndrome.yaml 89.9% 92.3% 62/69
Monomelic_Amyotrophy.yaml 89.9% 91.9% 71/79
Fallopian_Tube_Benign_Neoplasm.yaml 89.9% 90.1% 80/89 1
Pediatric_Acute-Onset_Neuropsychiatric_Syndrome.yaml 89.9% 91.0% 80/89
Soil_Transmitted_Helminthiases.yaml 89.9% 90.0% 80/89
Undifferentiated_Connective_Tissue_Syndrome.yaml 89.9% 90.1% 89/99
Free_Sialic_Acid_Storage_Disease.yaml 89.9% 90.6% 187/208
Peutz_Jeghers_Syndrome.yaml 89.9% 90.6% 187/208
Congenital_Leptin_Deficiency.yaml 89.9% 90.8% 107/119
X-linked_Chondrodysplasia_Punctata_1.yaml 89.9% 91.1% 107/119
Immunodeficiency_Centromeric_Instability_Facial_Anomalies_Syndrome.yaml 89.9% 90.7% 223/248
Neurodevelopmental_Disorder_with_or_without_Anomalies_of_the_Brain_Eye_or_Heart.yaml 89.9% 91.0% 232/258
Adenomyosis.yaml 89.9% 91.0% 170/189
B-Lymphoblastic_Leukemia_Lymphoma_With_Recurrent_Genetic_Abnormality.yaml 89.9% 90.7% 170/189
Netherton_Syndrome.yaml 90.0% 90.2% 188/209
Neuronal_Ceroid_Lipofuscinosis.yaml 90.0% 90.4% 206/229
Ataxia_With_Oculomotor_Apraxia_Type_2.yaml 90.0% 90.2% 269/299
PRKAG2_Cardiac_Syndrome.yaml 90.0% 91.2% 269/299
Brachydactyly_Type_C.yaml 90.0% 91.2% 81/90
Czech_Dysplasia.yaml 90.0% 92.8% 63/70
Dyslexia.yaml 90.0% 91.5% 54/60
Hereditary_Hemorrhagic_Telangiectasia.yaml 90.0% 91.1% 189/210
Huppke-Brendel_syndrome.yaml 90.0% 91.3% 99/110
Hypercatabolic_Hypoproteinemia.yaml 90.0% 89.4% 117/130 1
Isolated_Pierre_Robin_Syndrome.yaml 90.0% 91.4% 54/60 1
Medulloblastoma_SHH_Activated.yaml 90.0% 92.3% 81/90
Neurodevelopmental_Disorder_with_Poor_Growth_Spastic_Tetraplegia_and_Hearing_Loss.yaml 90.0% 91.4% 171/190
Thomsen_and_Becker_disease.yaml 90.0% 90.7% 126/140 1
Triglyceride_Storage_Disease_Type_2.yaml 90.0% 92.6% 45/50
Spinocerebellar_Ataxia_48.yaml 90.0% 90.1% 253/281
Hashimotos_Thyroiditis.yaml 90.0% 90.3% 217/241
Hypomyelinating_Leukodystrophy_14.yaml 90.0% 90.7% 217/241
Estrogen_Resistance_Syndrome.yaml 90.0% 90.4% 190/211
Large_Cell_Neuroendocrine_Carcinoma.yaml 90.1% 90.7% 172/191
DPAGT1-Congenital_Disorder_of_Glycosylation.yaml 90.1% 90.6% 154/171
PACS2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 90.1% 91.7% 145/161
Pachyonychia_Congenita.yaml 90.1% 90.9% 272/302
Eosinophilic_Esophagitis.yaml 90.1% 90.6% 127/141
Charcot-Marie-Tooth_Disease_Type_4B3.yaml 90.1% 89.8% 236/262 1
Cystic_Fibrosis.yaml 90.1% 90.1% 572/635 1
Blepharophimosis_Ptosis_and_Epicanthus_Inversus_Syndrome.yaml 90.1% 91.6% 109/121
Cat-Scratch_Disease.yaml 90.1% 90.5% 109/121 1
Benign_Familial_Infantile_Epilepsy.yaml 90.1% 89.4% 191/212 2
Roberts_Syndrome.yaml 90.1% 90.2% 447/496
CNGB1-Related_Retinopathy.yaml 90.1% 90.3% 210/233
Kabuki_Syndrome.yaml 90.1% 90.4% 274/304
Erb_Palsy.yaml 90.1% 90.6% 128/142
Mucoepidermoid_Carcinoma.yaml 90.1% 91.0% 64/71
Brachydactyly_Type_A2.yaml 90.2% 91.1% 119/132
Erythropoietic_Protoporphyria.yaml 90.2% 91.6% 119/132
Ulceroglandular_Tularemia.yaml 90.2% 92.1% 55/61
Danon_disease.yaml 90.2% 91.0% 156/173
Mal_De_Debarquement.yaml 90.2% 90.7% 101/112
Early-Onset_Autosomal_Dominant_Alzheimer_Disease.yaml 90.2% 90.9% 239/265
Microcytic_Anemia_With_Liver_Iron_Overload.yaml 90.2% 91.1% 92/102 1
Paget_Disease_of_Bone.yaml 90.2% 91.5% 138/153
Migraine_with_Aura.yaml 90.2% 90.7% 120/133
ARHGDIA-Related_Steroid-Resistant_Nephrotic_Syndrome.yaml 90.2% 90.6% 231/256
Dextro_Transposition_of_the_Great_Arteries.yaml 90.2% 91.6% 74/82
Glycogen_Storage_Disease_Type_VI.yaml 90.2% 91.6% 111/123
Malignant_Peritoneal_Mesothelioma.yaml 90.2% 91.4% 111/123
Neuronal_Ceroid_Lipofuscinosis_3.yaml 90.2% 91.8% 148/164
Primary_Polyarteritis_Nodosa.yaml 90.2% 88.4% 74/82 3
SYCE1_Related_Gametogenic_Failure.yaml 90.2% 91.9% 74/82
TANGO2_Deficiency_Disorder.yaml 90.3% 90.6% 343/380
Diabetic_Retinopathy.yaml 90.3% 90.7% 102/113
Far_East_Scarlet_Like_Fever.yaml 90.3% 91.5% 102/113
Lichtenstein-Knorr_Syndrome.yaml 90.3% 91.2% 65/72 1
Pilarowski-Bjornsson_syndrome.yaml 90.3% 91.8% 93/103
Polymyalgia_Rheumatica.yaml 90.3% 91.2% 93/103
Cyanide_Poisoning.yaml 90.3% 90.4% 242/268
Hearing_Loss_Autosomal_Recessive_120.yaml 90.3% 90.5% 121/134
Corpus_Callosum_Agenesis-Intellectual_Disability-Coloboma-Micrognathia_Syndrome.yaml 90.3% 91.4% 112/124
Developmental_Malformations-Deafness-Dystonia_Syndrome.yaml 90.3% 91.7% 112/124
Spondylo-ocular_Syndrome.yaml 90.3% 90.9% 168/186
Glomerulonephritis.yaml 90.3% 91.4% 243/269
Hypogonadotropic_Hypogonadism_18_With_Or_Without_Anosmia.yaml 90.3% 90.9% 131/145
Chronic_Recurrent_Multifocal_Osteomyelitis.yaml 90.4% 91.4% 75/83 1
Dilated_Cardiomyopathy_2A.yaml 90.4% 91.7% 150/166
Enhanced_S-Cone_Syndrome.yaml 90.4% 92.5% 75/83
Psoriatic_Arthritis.yaml 90.4% 89.7% 75/83 1
SYCP2-related_spermatogenic_failure.yaml 90.4% 92.5% 75/83
TUBG1-related_Tubulinopathy.yaml 90.4% 90.8% 150/166
Pre-descemet_Corneal_Dystrophy.yaml 90.4% 89.9% 122/135 1
Mucopolysaccharidosis_type_X.yaml 90.4% 92.0% 169/187
Obsessive-Compulsive_Disorder.yaml 90.4% 90.6% 169/187
Rapadilino_Syndrome.yaml 90.4% 90.9% 169/187
Developmental_And_Epileptic_Encephalopathy_82.yaml 90.4% 91.0% 235/260 1
Ciguatera_Fish_Poisoning.yaml 90.4% 90.5% 273/302 1
Brachydactyly_Type_D.yaml 90.4% 91.6% 66/73
High_Altitude_Pulmonary_Edema.yaml 90.4% 91.5% 132/146 1
Isolated_Sedoheptulokinase_Deficiency.yaml 90.4% 92.4% 66/73
Sialuria.yaml 90.4% 90.1% 132/146 1
ACTA1-Related_Nemaline_Myopathy.yaml 90.4% 90.7% 217/240
Neuropathy_Hereditary_Motor_And_Sensory_Type_VIc_With_Optic_Atrophy.yaml 90.4% 91.0% 151/167 1
Cerebral_Cavernous_Malformation.yaml 90.4% 91.9% 85/94 1
WFS1-Related_Disorder.yaml 90.4% 90.8% 170/188
Congenital_Myasthenic_Syndrome.yaml 90.4% 91.3% 369/408
Ergotism.yaml 90.4% 90.3% 246/272
CTNNB1_Neurodevelopmental_Disorder.yaml 90.5% 91.2% 379/419
Spondyloenchondrodysplasia.yaml 90.5% 91.0% 199/220
Ataxia_With_Oculomotor_Apraxia_Type_1.yaml 90.5% 91.9% 133/147
Creatine_Transporter_Deficiency.yaml 90.5% 92.7% 57/63
Spondylocostal_Dysostosis.yaml 90.5% 92.1% 95/105
Striate_Palmoplantar_Keratoderma_Type_2.yaml 90.5% 90.5% 171/189 1
Angelman_Syndrome.yaml 90.5% 90.5% 504/557
Schizophrenia.yaml 90.5% 89.6% 333/368 1
Wilms_Tumor.yaml 90.5% 90.8% 257/284 1
Meier-Gorlin_Syndrome.yaml 90.5% 91.5% 362/400
Cardiomyopathy_Dilated_100.yaml 90.5% 90.4% 124/137
Sengers_syndrome.yaml 90.5% 91.5% 124/137
Hearing_Loss_Autosomal_Dominant_82.yaml 90.5% 90.9% 105/116
Pyrimidine_5_Nucleotidase_Deficiency.yaml 90.5% 91.3% 105/116
Quebec_Platelet_Disorder.yaml 90.5% 90.4% 105/116
Cleft_Palate_Proliferative_Retinopathy_And_Developmental_Delay.yaml 90.5% 91.8% 172/190
Immunodeficiency_127.yaml 90.5% 92.1% 86/95 1
Stickler_Syndrome_Type_6.yaml 90.5% 91.3% 153/169
Transitional_Cell_Carcinoma.yaml 90.6% 91.9% 115/127
MEND_Syndrome.yaml 90.6% 91.7% 125/138
Lymphatic_Malformation_6.yaml 90.6% 91.2% 154/170
Multiple_Endocrine_Neoplasia_Type_1.yaml 90.6% 91.8% 77/85
Developmental_And_Epileptic_Encephalopathy_14.yaml 90.6% 89.8% 260/287 1
Kennedy_Disease.yaml 90.6% 92.5% 106/117
Brucellosis.yaml 90.6% 90.0% 270/298 2
Acute_Erythroid_Leukemia.yaml 90.6% 90.8% 203/224
CDH1-Related_Hereditary_Diffuse_Gastric_Cancer.yaml 90.6% 91.8% 58/64
DPM2-congenital_disorder_of_glycosylation.yaml 90.6% 92.3% 232/256
Dilated_Cardiomyopathy_1CC.yaml 90.6% 91.9% 174/192
Hantavirus_Pulmonary_Syndrome.yaml 90.6% 91.6% 116/128
Hearing_Loss_Autosomal_Recessive_116.yaml 90.6% 90.9% 145/160
MUTYH-Associated_Polyposis.yaml 90.6% 92.0% 58/64
Phelan-McDermid_Syndrome.yaml 90.6% 91.1% 87/96
Nephronophthisis.yaml 90.6% 90.2% 378/417
Congenital_Chloride_Diarrhea.yaml 90.7% 92.3% 68/75
Encephalocraniocutaneous_Lipomatosis.yaml 90.7% 91.6% 68/75
Glycogen_Storage_Disease_Due_To_Phosphoglycerate_Mutase_Deficiency.yaml 90.7% 91.3% 146/161
Hereditary_Multiple_Osteochondromas.yaml 90.7% 90.4% 302/333
Congenital_Disorder_Of_Glycosylation_Type_ICC.yaml 90.7% 92.2% 117/129
Hearing_Loss_Autosomal_Dominant_76.yaml 90.7% 91.2% 117/129
RAB5C-Related_Neurodevelopmental_Disorder_with_Macrocephaly.yaml 90.7% 93.5% 39/43
Gestational_Trophoblastic_Neoplasm.yaml 90.7% 93.6% 88/97
Hereditary_Spastic_Paraplegia_49.yaml 90.7% 91.1% 176/194
Brachyolmia-Amelogenesis_Imperfecta_Syndrome.yaml 90.7% 91.4% 245/270
NELABA.yaml 90.8% 91.7% 157/173
Cole-Carpenter_Syndrome.yaml 90.8% 92.3% 108/119
Immunodeficiency_131.yaml 90.8% 91.8% 108/119
Adult_Granulosa_Cell_Tumor_of_Ovary.yaml 90.8% 92.0% 118/130
Hypertrophic_Cardiomyopathy_4.yaml 90.8% 91.4% 256/282 2
Immunodeficiency_76.yaml 90.8% 91.9% 128/141
Carney_Complex.yaml 90.8% 92.1% 69/76
Familial_Expansile_Osteolysis.yaml 90.8% 90.9% 276/304
Isolated_Thyroid-stimulating_Hormone_Deficiency.yaml 90.8% 91.1% 148/163
Charcot-Marie-Tooth_Disease_Type_4.yaml 90.8% 92.2% 168/185
SMAD6-related_Craniosynostosis.yaml 90.8% 91.6% 89/98
Erysipelas.yaml 90.8% 90.6% 99/109 1
Thyroid_Follicular_Carcinoma.yaml 90.8% 92.8% 109/120
Narcolepsy.yaml 90.8% 91.0% 119/131
Cerebral_Amyloid_Angiopathy.yaml 90.8% 91.2% 129/142
Epidermolysis_Bullosa_Simplex.yaml 90.9% 91.2% 288/317
Non-Small_Cell_Lung_Cancer.yaml 90.9% 89.9% 298/328 3
Leukocyte_Adhesion_Deficiency_1.yaml 90.9% 91.3% 169/186
Labyrinthitis.yaml 90.9% 90.9% 209/230 1
Lateral_Meningocele_Syndrome.yaml 90.9% 91.9% 219/241
Cholera.yaml 90.9% 89.3% 299/329 1
Dental_Fluorosis.yaml 90.9% 93.2% 50/55
Galactosialidosis.yaml 90.9% 92.4% 90/99
Hereditary_Sensory_Neuropathy_Type_1D.yaml 90.9% 91.7% 80/88
Pancytopenia-Developmental_Delay_Syndrome.yaml 90.9% 91.5% 150/165
Proliferative_Vitreoretinopathy.yaml 90.9% 91.8% 60/66
SLC13A5_Citrate_Transporter_Disorder.yaml 90.9% 92.8% 100/110
Lissencephaly_Spectrum_Disorders.yaml 90.9% 91.9% 281/309 2
Benign_Neonatal_Seizures.yaml 90.9% 90.6% 221/243 2
Kindler_Epidermolysis_Bullosa.yaml 91.0% 91.5% 161/177
Deafness-Lymphedema-Leukemia_Syndrome.yaml 91.0% 91.6% 131/144
Immunodeficiency_64.yaml 91.0% 92.0% 131/144
BRCA_Mutant_Prostate_Cancer.yaml 91.0% 90.8% 202/222 1
IFT140-related_Recessive_Ciliopathy.yaml 91.0% 92.3% 101/111
Woodhouse-Sakati_Syndrome.yaml 91.0% 91.5% 192/211
Ethmoid_Sinus_Adenocarcinoma.yaml 91.0% 92.3% 91/100
Hatipoglu_Immunodeficiency_Syndrome.yaml 91.0% 91.9% 172/189
Photosensitive_Epilepsy.yaml 91.0% 91.3% 162/178 1
Fibrodysplasia_Ossificans_Progressiva.yaml 91.0% 91.7% 142/156
Progressive_Familial_Heart_Block.yaml 91.0% 94.3% 71/78
Autosomal_Dominant_Non-Syndromic_Intellectual_Disability.yaml 91.0% 91.8% 406/446
Neurodevelopmental_Disorder_with_Central_Hypotonia_and_Dysmorphic_Facies.yaml 91.0% 92.7% 264/290
NDP_Related_Vitreoretinopathy.yaml 91.0% 93.0% 61/67
Inherited_Porphyria.yaml 91.1% 91.9% 275/302
Mendelian_Susceptibility_To_Mycobacterial_Diseases_Due_To_Complete_ISG15_Deficiency.yaml 91.1% 91.5% 163/179
Ricin_Poisoning.yaml 91.1% 91.1% 377/414
Mosaic_Variegated_Aneuploidy_Syndrome.yaml 91.1% 91.6% 265/291
Polycystic_Kidney_Disease.yaml 91.1% 91.0% 316/347 1
Autosomal_Dominant_Hyper-IgE_Syndrome.yaml 91.1% 91.9% 153/168
Cerebral_Proliferative_Angiopathy.yaml 91.1% 91.7% 51/56 1
Coronary_Vasospasm.yaml 91.1% 92.3% 102/112
Hypokalemic_Periodic_Paralysis.yaml 91.1% 93.2% 102/112
Bejel.yaml 91.1% 91.8% 143/157
Polymyositis.yaml 91.1% 91.7% 143/157
MCM9-related_gametogenic_failure.yaml 91.1% 92.2% 92/101
Sheehan_Syndrome.yaml 91.1% 91.8% 225/247
Hereditary_Hemorrhagic_Telangiectasia_5.yaml 91.1% 92.1% 195/214
Proteasome_Associated_Autoinflammatory_Syndrome.yaml 91.1% 91.7% 154/169
Holoprosencephaly_9.yaml 91.1% 92.0% 267/293
Anal_Canal_Carcinoma.yaml 91.1% 93.0% 113/124
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_22.yaml 91.1% 91.3% 113/124 1
Microphthalmia_with_Coloboma.yaml 91.1% 91.9% 226/248
Bainbridge-Ropers_Syndrome.yaml 91.1% 92.7% 288/316 1
Spinocerebellar_Ataxia_Type_2.yaml 91.1% 92.3% 144/158
RYR2_CPVT.yaml 91.1% 92.0% 247/271
Dandy-Walker_Syndrome.yaml 91.1% 91.3% 175/192 1
Factor_XIII_A_Subunit_Deficiency.yaml 91.2% 89.5% 268/294 3
Ferguson-Bonni_Neurodevelopmental_Syndrome.yaml 91.2% 92.4% 134/147
TRMU-Related_Acute_Infantile_Liver_Failure.yaml 91.2% 91.7% 165/181
Esophageal_Adenocarcinoma.yaml 91.2% 92.6% 124/136
Legionnaires_Disease.yaml 91.2% 92.6% 93/102
Schistosomiasis.yaml 91.2% 90.7% 93/102
Multiple_Sclerosis.yaml 91.2% 91.1% 414/454 2
Microcephaly-Capillary_Malformation_Syndrome.yaml 91.2% 92.6% 321/352
Intellectual_Developmental_Disorder_X-Linked_Syndromic_37.yaml 91.2% 92.5% 259/284
Primary_Aldosteronism.yaml 91.2% 92.4% 228/250
COA5-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml 91.2% 91.5% 156/171
Idiopathic_Hypereosinophilic_Syndrome.yaml 91.2% 91.6% 229/251
Chronic_Lymphocytic_Inflammation_With_Pontine_Perivascular_Enhancement_Responsive_To_Steroids.yaml 91.2% 91.8% 125/137
Lenz-Majewski_hyperostotic_dwarfism.yaml 91.2% 92.7% 125/137
Intellectual_Disability_X-linked_Syndromic_35.yaml 91.2% 92.5% 198/217
Neuronal_Intranuclear_Inclusion_Disease.yaml 91.3% 92.0% 167/183
Charcot-Marie-Tooth_Disease_Type_1.yaml 91.3% 92.5% 115/126
Pancreatic_Neuroendocrine_Tumor.yaml 91.3% 93.3% 115/126
UGGT1-congenital_disorder_of_glycosylation.yaml 91.3% 92.1% 115/126
Dilated_Cardiomyopathy_1II.yaml 91.3% 92.3% 157/172
Autosomal_Recessive_Cutis_Laxa_Type_2A.yaml 91.3% 92.3% 178/195
Combined_Oxidative_Phosphorylation_Deficiency_48.yaml 91.3% 91.6% 178/195
RYR1-Related_Myopathy.yaml 91.3% 92.7% 199/218 1
Wiedemann-Rautenstrauch_Syndrome.yaml 91.3% 91.5% 451/494
Developmental_And_Epileptic_Encephalopathy_40.yaml 91.3% 93.1% 84/92
Guillain_Barre_Syndrome.yaml 91.3% 91.5% 105/115
IHH-Related_Polysyndactyly.yaml 91.3% 94.4% 63/69
Peroxisomal_Acyl-CoA_Oxidase_Deficiency.yaml 91.3% 92.1% 168/184
Moyamoya_Disease.yaml 91.3% 91.8% 137/150 1
Inclusion_Body_Myositis.yaml 91.3% 92.2% 285/312
Arginase_Deficiency.yaml 91.4% 91.4% 317/347
Kidney_Sarcoma.yaml 91.4% 92.0% 148/162
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_41.yaml 91.4% 91.2% 159/174
Familial_Vesicoureteral_Reflux.yaml 91.4% 92.7% 297/325
Congenital_Myasthenic_Syndrome_15.yaml 91.4% 92.8% 85/93
Rabson-Mendenhall_Syndrome.yaml 91.4% 92.4% 202/221
Dent_Disease.yaml 91.4% 91.1% 319/349 1
Hodgkin_Lymphoma.yaml 91.4% 92.7% 117/128
adrenoleukodystrophy.yaml 91.4% 92.0% 234/256
MBD5_Haploinsufficiency_Syndrome.yaml 91.4% 92.3% 149/163
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_7.yaml 91.4% 90.0% 160/175 1
Endometrial_Endometrioid_Adenocarcinoma.yaml 91.4% 92.5% 128/140
GJB2-GJB6_Digenic_Nonsyndromic_Hearing_Loss.yaml 91.4% 94.3% 32/35
VPS53-Related_Pontocerebellar_Hypoplasia_Type_2E.yaml 91.4% 93.2% 96/105
Arrhythmogenic_Right_Ventricular_Cardiomyopathy.yaml 91.4% 91.2% 299/327 2
ODonnell-Luria-Rodan_Syndrome.yaml 91.5% 91.9% 289/316
Congenital_Bilateral_Absence_of_Vas_Deferens.yaml 91.5% 92.0% 150/164
Marfanoid_Progeroid_Lipodystrophy_Syndrome.yaml 91.5% 92.2% 279/305
Childhood-Onset_Striatonigral_Degeneration.yaml 91.5% 92.5% 161/176
Double_Outlet_Right_Ventricle.yaml 91.5% 91.8% 322/352
GRIN2A-Related_Epileptic_Encephalopathy_and_Intellectual_Disability.yaml 91.5% 92.7% 290/317
GFI1B-related_Platelet-type_Bleeding_Disorder.yaml 91.5% 92.4% 86/94 1
Chromoblastomycosis.yaml 91.5% 92.7% 54/59
Cushings_Syndrome.yaml 91.5% 92.5% 54/59
Autosomal_Recessive_Hypercholesterolemia.yaml 91.5% 91.5% 227/248
Frontotemporal_Dementia_And_Or_Amyotrophic_Lateral_Sclerosis_2.yaml 91.5% 91.5% 238/260 1
Hereditary_von_Willebrand_Disease.yaml 91.5% 91.5% 119/130
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_23.yaml 91.5% 91.9% 119/130
Primary_Hyperoxaluria_Type_3.yaml 91.5% 93.1% 65/71
Autosomal_Recessive_Limb-Girdle_Muscular_Dystrophy.yaml 91.6% 92.6% 228/249
MET_Exon_14_Skipping_NSCLC.yaml 91.6% 94.0% 76/83
Neurodegeneration_Childhood-onset_With_Cerebellar_Atrophy.yaml 91.6% 92.3% 380/415
Neurofibromatosis-Noonan_Syndrome.yaml 91.6% 93.7% 76/83
Dermatitis_Herpetiformis.yaml 91.6% 92.6% 98/107
SLC35A2-CDG.yaml 91.6% 92.6% 98/107
Malignant_Peripheral_Nerve_Sheath_Tumor.yaml 91.6% 91.8% 120/131
Hepatitis_B.yaml 91.6% 90.5% 251/274
Familial_Digital_Arthropathy-Brachydactyly.yaml 91.6% 92.2% 142/155
Serotonin_Syndrome.yaml 91.6% 92.0% 153/167
Duane_Retraction_Syndrome_3_With_Or_Without_Deafness.yaml 91.6% 92.3% 175/191
AICA-ribosiduria.yaml 91.6% 92.2% 219/239
Hypertrophic_Cardiomyopathy_21.yaml 91.7% 93.2% 77/84
Intellectual_Disability_Autosomal_Dominant_11.yaml 91.7% 92.9% 55/60
MOGAD.yaml 91.7% 92.0% 132/144
Multisystemic_Smooth_Muscle_Dysfunction_Syndrome.yaml 91.7% 93.1% 66/72 2
Osteogenesis_Imperfecta_Type_VI.yaml 91.7% 93.3% 77/84
Social_Anxiety_Disorder.yaml 91.7% 89.0% 132/144 3
Sterol_Carrier_Protein_2_Deficiency.yaml 91.7% 92.4% 177/193
Leprosy.yaml 91.7% 91.9% 155/169
Neuronal_Ceroid_Lipofuscinosis_7.yaml 91.7% 92.3% 144/157 1
Rasmussen_Encephalitis.yaml 91.7% 92.4% 144/157
Spinocerebellar_Ataxia_Type_23.yaml 91.7% 93.0% 144/157
Mendelian_Susceptibility_To_Mycobacterial_Diseases_Due_To_Complete_IL12RB1_Deficiency.yaml 91.7% 92.1% 111/121 1
Myelodysplastic_Syndrome.yaml 91.7% 93.3% 100/109
Carney-Stratakis_Syndrome.yaml 91.8% 92.6% 89/97
Eisenmenger_Syndrome.yaml 91.8% 91.8% 234/255
Chung-Jansen_Syndrome.yaml 91.8% 92.2% 324/353 1
Aspirin-Exacerbated_Respiratory_Disease.yaml 91.8% 91.6% 380/414
3-Methylglutaconic_Aciduria_Type_I.yaml 91.8% 92.3% 168/183
Chondrosarcoma.yaml 91.8% 92.7% 168/183
Dilated_Cardiomyopathy_1JJ.yaml 91.8% 92.7% 168/183
SADDAN.yaml 91.8% 93.9% 56/61
Autosomal_Recessive_Spondylometaphyseal_Dysplasia_Megarbane_Type.yaml 91.8% 91.7% 325/354 1
Deafness_Congenital_Heart_Defects_And_Posterior_Embryotoxon.yaml 91.8% 93.3% 213/232
Barth_Syndrome.yaml 91.8% 91.9% 157/171
Intellectual_Disability_Autosomal_Recessive_65.yaml 91.8% 92.6% 146/159
Progressive_Supranuclear_Palsy.yaml 91.8% 92.8% 146/159
Inflammatory_Myofibroblastic_Tumor.yaml 91.8% 92.6% 90/98
Sinoatrial_Node_Dysfunction_and_Deafness.yaml 91.8% 92.9% 180/196
Taurine_Transporter_Deficiency.yaml 91.8% 93.1% 180/196
Warsaw_breakage_syndrome.yaml 91.9% 92.4% 203/221
Myeloperoxidase_Deficiency.yaml 91.9% 92.9% 113/123
PUM1-Associated_Developmental_Disability_Ataxia_Seizure_Syndrome.yaml 91.9% 92.7% 181/197
Peroxisome_Biogenesis_Disorder_4A_Zellweger.yaml 91.9% 92.8% 136/148
ARPC1B_Deficiency.yaml 91.9% 93.0% 148/161
Carbon_Monoxide_Poisoning.yaml 91.9% 92.4% 171/186
Adult_Refsum_Disease.yaml 92.0% 91.7% 240/261
Non-functional_Pancreatic_Neuroendocrine_Tumor.yaml 92.0% 93.6% 80/87
Pacak-Zhuang_syndrome.yaml 92.0% 93.1% 80/87
Disorder_of_Catecholamine_Synthesis.yaml 92.0% 92.6% 207/225
Incontinentia_Pigmenti.yaml 92.0% 93.3% 138/150
Mercury_Poisoning.yaml 92.0% 94.8% 46/50
Peripheral_T_Cell_Lymphoma.yaml 92.0% 92.4% 161/175
Spastic_Paraplegia_90A_Autosomal_Dominant.yaml 92.0% 92.9% 138/150
Whipple_Disease.yaml 92.0% 93.0% 115/125
Syndromic_X-linked_Intellectual_Disability_94.yaml 92.0% 92.6% 288/313
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_2.yaml 92.0% 92.5% 208/226
PAX3_Waardenburg_Spectrum.yaml 92.0% 92.1% 104/113 1
Chromosome_3q29_Microdeletion_Syndrome.yaml 92.0% 92.9% 185/201
CN_Related_DEE.yaml 92.1% 92.9% 116/126 1
Craniometadiaphyseal_Osteosclerosis_With_Hip_Dysplasia.yaml 92.1% 92.9% 116/126
Dominant_Deafness-Onychodystrophy_Syndrome.yaml 92.1% 93.1% 174/189 1
Fibrocartilaginous_Embolism.yaml 92.1% 92.5% 58/63 1
Osteogenesis_Imperfecta_Type_VIII.yaml 92.1% 94.2% 58/63
Parenti-Mignot_Neurodevelopmental_Syndrome.yaml 92.1% 93.7% 93/101
Pelger-Huet_Anomaly.yaml 92.1% 90.6% 128/139 1
Aortitis.yaml 92.1% 91.7% 198/215 2
Congenital_Glaucoma.yaml 92.1% 92.4% 303/329
Neonatal_Lupus_Erythematosus.yaml 92.1% 93.3% 117/127
46_XY_Sex_Reversal_11.yaml 92.1% 92.1% 328/356
Cooks_Syndrome.yaml 92.1% 93.0% 82/89
Congenital_Isolated_Hyperinsulinism.yaml 92.1% 93.0% 211/229
Charlevoix-Saguenay_spastic_ataxia.yaml 92.2% 93.2% 141/153
Cutaneous_Collagenous_Vasculopathy.yaml 92.2% 91.4% 47/51 2
Renal_Coloboma_Syndrome.yaml 92.2% 92.6% 235/255
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml 92.2% 92.6% 247/268
Zlotogora-Ogur_Syndrome.yaml 92.2% 93.4% 106/115
Gaucher_Disease.yaml 92.2% 91.2% 436/473 2
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_98.yaml 92.2% 92.9% 142/154
Preeclampsia.yaml 92.2% 92.9% 284/308
Ocular_Melanoma.yaml 92.2% 93.2% 308/334
Brachydactyly_Type_A1.yaml 92.2% 92.9% 166/180
Satoyoshi_Syndrome.yaml 92.2% 92.6% 166/180 1
Acrocapitofemoral_Dysplasia.yaml 92.2% 92.4% 273/296
Unverricht-Lundborg_Disease.yaml 92.2% 92.6% 190/206 2
Embryonal_Rhabdomyosarcoma.yaml 92.2% 92.9% 119/129
Rosacea.yaml 92.2% 92.2% 476/516 1
Tuberculosis.yaml 92.3% 92.3% 274/297
Pfeiffer_Syndrome.yaml 92.3% 93.0% 143/155
Growth_Hormone_Insensitivity_Syndrome.yaml 92.3% 93.2% 167/181
Brugada_Syndrome.yaml 92.3% 91.5% 251/272 4
Pyoderma_Gangrenosum.yaml 92.3% 92.1% 311/337 1
EVEN-PLUS_Syndrome.yaml 92.3% 93.4% 120/130
Greig_Cephalopolysyndactyly.yaml 92.3% 93.6% 84/91
Intellectual_Disability_Autosomal_Recessive_43.yaml 92.3% 92.9% 192/208 1
MITF_Waardenburg_Tietz_Spectrum.yaml 92.3% 93.0% 84/91
Shprintzen-Goldberg_Syndrome.yaml 92.3% 92.3% 72/78
Oculocutaneous_Albinism.yaml 92.3% 93.4% 193/209
Immunodeficiency_101_Varicella_Zoster_Virus-specific.yaml 92.3% 93.1% 181/196
Empty_Nose_Syndrome.yaml 92.4% 92.1% 145/157 1
Anencephaly.yaml 92.4% 92.9% 133/144 1
Eosinophilic_Fasciitis.yaml 92.4% 93.1% 109/118
WAPL-Related_Developmental_Disorder.yaml 92.4% 93.3% 218/236
Autoimmune_Pulmonary_Alveolar_Proteinosis.yaml 92.4% 92.6% 292/316 1
Rienhoff_Syndrome.yaml 92.4% 93.5% 219/237
CPLX1-Related_DEE.yaml 92.4% 92.4% 256/277 2
Allopurinol_Induced_SJS_TEN.yaml 92.4% 93.0% 110/119 1
Hyperlipidemia.yaml 92.4% 92.6% 220/238 1
Hypersensitivity_Pneumonitis.yaml 92.4% 92.3% 110/119 1
Mycosis_Fungoides.yaml 92.4% 92.4% 110/119 1
Sorbitol_Dehydrogenase_Deficiency.yaml 92.4% 93.0% 220/238 1
ATTR_Amyloidosis.yaml 92.4% 92.7% 257/278
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_11.yaml 92.5% 91.9% 98/106 1
Methylmalonate_Semialdehyde_Dehydrogenase_Deficiency.yaml 92.5% 92.7% 147/159 1
Scabies.yaml 92.5% 91.7% 49/53
Yunis-Varon_Syndrome.yaml 92.5% 93.0% 282/305
Squamous_Cell_Carcinoma_of_Penis.yaml 92.5% 93.8% 86/93
5-Oxoprolinase_Deficiency.yaml 92.5% 93.5% 123/133
Hereditary_Sensory_and_Autonomic_Neuropathy_Type_6.yaml 92.5% 93.0% 160/173
Hypotrichosis_4.yaml 92.5% 92.8% 148/160
Lipoyl_Transferase_1_Deficiency.yaml 92.5% 93.2% 111/120
Primary_Hypertrophic_Osteoarthropathy.yaml 92.5% 93.9% 111/120
Hypobetalipoproteinemia.yaml 92.5% 93.2% 247/267
Severe_Combined_Immunodeficiency.yaml 92.5% 93.0% 371/401
Canavan_Disease.yaml 92.5% 92.7% 297/321
HSD10_Mitochondrial_Disease.yaml 92.5% 93.9% 99/107
Pilocytic_Astrocytoma.yaml 92.5% 93.0% 99/107
Hereditary_Spastic_Paraplegia_3A.yaml 92.5% 92.5% 384/415 1
SCN2A-Related_Developmental_and_Epileptic_Encephalopathy.yaml 92.5% 93.9% 124/134
Myofibrillar_Myopathy.yaml 92.5% 93.4% 360/389
Essential_Hypertension.yaml 92.6% 92.5% 87/94
VEXAS_Syndrome.yaml 92.6% 92.7% 174/188
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_32.yaml 92.6% 93.3% 199/215
Lathyrism.yaml 92.6% 93.9% 137/148
Hereditary_Hemorrhagic_Telangiectasia_Type_2.yaml 92.6% 92.7% 287/310
CDK19-Related_Disorder.yaml 92.6% 93.1% 362/391
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_37.yaml 92.6% 93.1% 100/108
Lymphomatoid_Granulomatosis.yaml 92.6% 93.4% 125/135
Niemann-Pick_Disease_Type_E.yaml 92.6% 96.2% 25/27
Paralytic_Poliomyelitis.yaml 92.6% 93.4% 100/108 1
Pick_Disease.yaml 92.6% 93.6% 138/149
Shwachman-Diamond_Syndrome.yaml 92.6% 92.9% 276/298
Acute_Alcohol_Sensitivity.yaml 92.6% 92.9% 113/122
Lowe_Syndrome.yaml 92.6% 93.7% 113/122
Duane_Retraction_Syndrome.yaml 92.6% 94.2% 88/95
IgG4-Related_Sclerosing_Cholangitis.yaml 92.6% 93.4% 88/95 1
Bullous_Pemphigoid.yaml 92.7% 94.3% 101/109
Mitochondrial_DNA_Depletion_Syndrome_14B.yaml 92.7% 93.3% 215/232 1
COA6-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml 92.7% 92.8% 152/164
Primary_Biliary_Cholangitis.yaml 92.7% 92.9% 114/123
Subcutaneous_Panniculitis-like_T-cell_Lymphoma.yaml 92.7% 93.4% 152/164
3-Hydroxy-3-Methylglutaric_Aciduria.yaml 92.7% 93.2% 241/260
Choroiditis.yaml 92.7% 93.1% 368/397
Atrial_Fibrillation.yaml 92.7% 92.5% 254/274
Plasma_Cell_Neoplasm.yaml 92.7% 94.1% 127/137
Cutis_Laxa_Autosomal_Recessive_Type_2E.yaml 92.7% 93.3% 305/329
Uveal_Coloboma-Cleft_Lip_and_Palate-Intellectual_Disability_Syndrome.yaml 92.7% 93.5% 178/192
Isolated_Sulfite_Oxidase_Deficiency.yaml 92.7% 94.0% 242/261
Junctional_Epidermolysis_Bullosa.yaml 92.7% 93.0% 255/275
Meningeal_Melanocytoma.yaml 92.7% 93.7% 102/110 1
Medullary_Sponge_Kidney.yaml 92.7% 93.5% 115/124
GOLGA2-Related_Golgin_A2_Deficiency.yaml 92.8% 94.8% 64/69
Pouchitis.yaml 92.8% 93.3% 64/69
Sneddon_syndrome.yaml 92.8% 94.4% 64/69
Immunodeficiency_63_with_Lymphoproliferation_and_Autoimmunity.yaml 92.8% 93.6% 154/166
BRPF1-Related_Intellectual_Disability.yaml 92.8% 92.7% 706/761 1
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_6.yaml 92.8% 93.4% 167/180
Capillary_Malformation-Arteriovenous_Malformation_Syndrome.yaml 92.8% 94.2% 90/97
Measles.yaml 92.8% 93.6% 90/97
Bronchiectasis.yaml 92.8% 93.1% 193/208
RTN4IP1-Related_Optic_Atrophy.yaml 92.8% 93.8% 103/111
WHIM_Syndrome_1.yaml 92.8% 93.8% 206/222
Spondyloepimetaphyseal_Dysplasia_Faden-Alkuraya_Type.yaml 92.8% 94.3% 271/292
Camurati-Engelmann_Disease.yaml 92.8% 93.9% 142/153
Cerebellar_Ataxia-Hypogonadism_Syndrome.yaml 92.8% 94.0% 155/167
Catatonia.yaml 92.9% 93.5% 208/224
Immunodeficiency_32B.yaml 92.9% 94.2% 117/126
Jacobsen_Syndrome.yaml 92.9% 94.2% 91/98
Juvenile_Open_Angle_Glaucoma.yaml 92.9% 94.1% 104/112
Nonimmune_Chronic_Idiopathic_Neutropenia_of_Adults.yaml 92.9% 93.2% 91/98 1
ROS1_Rearranged_NSCLC.yaml 92.9% 93.4% 169/182
Renpenning_syndrome.yaml 92.9% 94.7% 65/70
THOC6-Related_Developmental_Delay-Microcephaly-Facial_Dysmorphism_Syndrome.yaml 92.9% 94.0% 156/168 1
CDK8-Related_Disorder.yaml 92.9% 93.5% 444/478
Isolated_Glycerol_Kinase_Deficiency.yaml 92.9% 93.1% 131/141 1
Klippel-Feil_Syndrome.yaml 92.9% 93.8% 131/141
Rhizomelic_Chondrodysplasia_Punctata_Plasmalogen_Synthesis_Defect.yaml 92.9% 94.0% 131/141
Osteootohepatoenteric_Syndrome.yaml 92.9% 93.5% 118/127 1
Immune_Thrombocytopenia.yaml 92.9% 93.3% 79/85
Pulmonary_Alveolar_Proteinosis_With_Hypogammaglobulinemia.yaml 92.9% 93.9% 158/170
Segmental_Arterial_Mediolysis.yaml 92.9% 93.3% 79/85 1
Ablepharon_Macrostomia_Syndrome.yaml 92.9% 92.9% 382/411
22q11.2_Deletion_Syndrome.yaml 93.0% 93.5% 211/227
Metabolic_Dysfunction-Associated_Steatotic_Liver_Disease.yaml 93.0% 93.1% 330/355 3
Pleuropulmonary_Blastoma.yaml 93.0% 93.5% 132/142
Skraban-Deardorff_Syndrome.yaml 93.0% 94.4% 132/142
Bardet-Biedl_Syndrome.yaml 93.0% 93.3% 291/313
Cannabis_Hyperemesis_Syndrome.yaml 93.0% 93.2% 106/114
Gaucher_Disease_Due_To_Saposin_C_Deficiency.yaml 93.0% 94.7% 53/57
Lung_Carcinoma.yaml 93.0% 92.9% 53/57 1
Bilateral_Striopallidodentate_Calcinosis.yaml 93.0% 94.1% 146/157
Congenital_Myasthenic_Syndrome_18.yaml 93.0% 94.3% 146/157
FOXP1_Syndrome.yaml 93.0% 93.5% 399/429 1
Fanconi_Renotubular_Syndrome.yaml 93.0% 94.2% 133/143
Primary_Ciliary_Dyskinesia.yaml 93.0% 93.2% 705/758
Dilated_Cardiomyopathy.yaml 93.0% 93.4% 386/415
Brucella_Melitensis_Brucellosis.yaml 93.0% 93.0% 160/172 1
Carvajal_Syndrome.yaml 93.0% 94.2% 120/129
Endometrial_Carcinoma.yaml 93.0% 93.9% 200/215
X-linked_Reticulate_Pigmentary_Disorder.yaml 93.0% 93.5% 200/215
Pelvic_Inflammatory_Disease.yaml 93.0% 93.3% 227/244 1
Peters_Plus_Syndrome.yaml 93.0% 93.9% 227/244
Congenital_Insensitivity_to_Pain.yaml 93.0% 94.2% 147/158
Nijmegen_breakage_syndrome.yaml 93.0% 93.8% 107/115
Keipert_syndrome.yaml 93.1% 94.8% 67/72
Progressive_Bulbar_Palsy.yaml 93.1% 95.1% 67/72
Cryoglobulinemic_Vasculitis.yaml 93.1% 93.1% 94/101 2
Hepatic_Veno-occlusive_Disease-Immunodeficiency_Syndrome.yaml 93.1% 94.6% 94/101
Menieres_Disease.yaml 93.1% 93.0% 94/101
Neurodevelopmental_Disorder_with_Microcephaly_Impaired_Language_and_Gait_Abnormalities.yaml 93.1% 94.0% 242/260
Ventricular_Septal_Defect.yaml 93.1% 93.6% 202/217
Familial_Hyperaldosteronism.yaml 93.1% 94.3% 135/145
Keratoderma_Hereditarium_Mutilans.yaml 93.1% 92.9% 108/116 1
Multiple_Mitochondrial_Dysfunctions_Syndrome_4.yaml 93.1% 92.6% 108/116 1
Rheumatoid_Vasculitis.yaml 93.1% 93.9% 108/116 2
Waardenburg_Syndrome_Type_2F.yaml 93.1% 93.8% 135/145
PUS7-Related_Neurodevelopmental_Disorder.yaml 93.1% 94.5% 284/305
Left_Ventricular_Noncompaction.yaml 93.1% 93.5% 149/160
Adult_Onset_Foveomacular_Vitelliform_Dystrophy.yaml 93.1% 94.5% 95/102
Immunodeficiency_98_With_Autoinflammation.yaml 93.1% 93.8% 163/175
Townes-Brocks_Syndrome_1.yaml 93.2% 93.9% 313/336
Pulmonary_Hemosiderosis.yaml 93.2% 94.3% 177/190
Panic_Disorder.yaml 93.2% 93.4% 109/117
Spinocerebellar_Ataxia_43.yaml 93.2% 94.4% 109/117 1
Scorpion_Envenomation.yaml 93.2% 93.4% 273/293
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_47.yaml 93.2% 95.2% 41/44
Infantile_Myofibromatosis.yaml 93.2% 95.3% 41/44
Sjogrens_Syndrome.yaml 93.2% 93.9% 178/191
Visceral_Heterotaxy.yaml 93.2% 94.2% 96/103
Autoimmune_Encephalitis.yaml 93.2% 93.3% 206/221
Crouzon_Syndrome.yaml 93.2% 94.5% 110/118
GAPO_Syndrome.yaml 93.2% 93.7% 165/177 1
Splenic_Artery_Aneurysm.yaml 93.2% 93.7% 110/118 1
Mumps.yaml 93.2% 93.8% 69/74
Multiple_Epiphyseal_Dysplasia.yaml 93.3% 94.4% 166/178
Citrin_Deficiency.yaml 93.3% 93.6% 236/253 1
Granulomatosis_with_Polyangiitis.yaml 93.3% 94.1% 292/313
Fowler_Syndrome.yaml 93.3% 94.0% 195/209 1
Hypertensive_Retinopathy.yaml 93.3% 94.6% 84/90
Hypochondrogenesis.yaml 93.3% 94.1% 168/180
Specific_Antibody_Deficiency.yaml 93.3% 94.3% 112/120
ZNF341_Deficiency.yaml 93.3% 93.9% 252/270
ATP6V0C-Related_Epilepsy.yaml 93.4% 93.7% 239/256
Baller-Gerold_Syndrome.yaml 93.4% 93.9% 169/181
Multiminicore_Disease.yaml 93.4% 94.4% 155/166
KCNH1_Associated_Disorder.yaml 93.4% 94.7% 212/227
Brittle_Cornea_Syndrome.yaml 93.4% 94.7% 99/106
Hearing_Loss_Autosomal_Recessive_106.yaml 93.4% 93.3% 85/91 1
Chemotherapy_Induced_Nausea_and_Vomiting.yaml 93.4% 94.8% 71/76
Naxos_disease.yaml 93.4% 94.7% 142/152
Methylcobalamin_Deficiency_Type_cblE.yaml 93.4% 93.8% 199/213
CYFIP2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 93.4% 93.4% 256/274
Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml 93.4% 94.3% 128/137
Diaphyseal_Medullary_Stenosis_With_Malignant_Fibrous_Histiocytoma.yaml 93.4% 94.4% 114/122
Wilsons_Disease.yaml 93.4% 93.1% 713/763 3
Classic_Hodgkin_Lymphoma.yaml 93.5% 93.7% 157/168
Immunodeficiency_57.yaml 93.5% 93.6% 157/168
Mucopolysaccharidosis.yaml 93.5% 93.5% 157/168
Mitochondrial_Trifunctional_Protein_Deficiency.yaml 93.5% 93.6% 286/306 1
Choroid_Plexus_Neoplasm.yaml 93.5% 94.0% 329/352
ADan_amyloidosis.yaml 93.5% 93.7% 229/245
Congestive_Splenomegaly.yaml 93.5% 94.9% 86/92
Shigellosis.yaml 93.5% 94.0% 115/123
Sepsis.yaml 93.5% 94.3% 159/170
Hereditary_Neuropathy_with_Liability_to_Pressure_Palsies.yaml 93.5% 94.1% 87/93
Idiopathic_Pulmonary_Arterial_Hypertension.yaml 93.5% 93.3% 261/279 1
Malignant_Sertoli-Leydig_Cell_Tumor_of_Ovary.yaml 93.5% 94.7% 116/124
Mitochondrial_DNA_Depletion_Syndrome_7.yaml 93.5% 95.2% 87/93
Osteogenesis_Imperfecta_Type_XVIII.yaml 93.5% 95.6% 58/62
Osteogenesis_Imperfecta_Type_XXII.yaml 93.5% 95.6% 58/62
Malonic_Aciduria.yaml 93.6% 94.7% 160/171
Spinocerebellar_Ataxia_Type_36.yaml 93.6% 93.6% 277/296
Hurler_syndrome.yaml 93.6% 94.8% 175/187
Birt-Hogg-Dube_Syndrome.yaml 93.6% 94.7% 73/78
Primary_Erythermalgia.yaml 93.6% 94.7% 73/78
TUBGCP4-related_Microcephaly_and_Chorioretinopathy.yaml 93.6% 94.7% 73/78
Krabbe_Disease.yaml 93.6% 94.0% 190/203 1
Ovarian_Hyperstimulation_Syndrome.yaml 93.6% 93.7% 322/344
Developmental_And_Epileptic_Encephalopathy_89.yaml 93.6% 94.4% 366/391
Carotid_Web.yaml 93.6% 95.3% 44/47 1
North_Carolina_Macular_Dystrophy.yaml 93.6% 95.1% 88/94
RP1-Related_Retinopathy.yaml 93.6% 95.1% 88/94
Thymoma.yaml 93.6% 94.6% 191/204
MRPL44_Deficiency.yaml 93.7% 93.6% 369/394 2
Idiopathic_Interstitial_Pneumonia.yaml 93.7% 94.2% 148/158
oligoastrocytoma.yaml 93.7% 95.2% 74/79
Usmani-Riazuddin_Syndrome_Autosomal_Dominant.yaml 93.7% 94.1% 193/206
Cytomegalovirus_Retinitis.yaml 93.7% 94.7% 119/127
Graves_Disease.yaml 93.7% 93.7% 268/286 1
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_88.yaml 93.7% 94.2% 164/175
CHEK2-related_Cancer_Predisposition.yaml 93.7% 93.6% 179/191
Familial_Hypercholesterolemia.yaml 93.7% 93.6% 449/479 2
Autosomal_Dominant_Osteosclerosis_Worth_Type.yaml 93.8% 94.0% 225/240
Leber_Hereditary_Optic_Neuropathy.yaml 93.8% 93.9% 285/304 1
Lupus_Nephritis.yaml 93.8% 94.7% 180/192
Osteogenesis_Imperfecta_Type_XII.yaml 93.8% 95.7% 60/64
Sinonasal_Undifferentiated_Carcinoma.yaml 93.8% 94.9% 105/112
TTC19-related_Mitochondrial_Complex_III_Deficiency.yaml 93.8% 95.6% 90/96
Long_COVID.yaml 93.8% 93.5% 526/561 3
COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml 93.8% 93.5% 226/241 1
Vulvar_Adenocarcinoma.yaml 93.8% 93.8% 226/241
Blastic_Plasmacytoid_Dendritic_Cell_Neoplasm.yaml 93.8% 93.8% 437/466 1
GPD1_Deficiency.yaml 93.8% 94.1% 196/209
Yolk_Sac_Tumor.yaml 93.8% 93.7% 196/209
Metachromatic_Leukodystrophy.yaml 93.8% 93.6% 136/145 1
LDLR-Related_Familial_Hypercholesterolemia.yaml 93.8% 93.9% 348/371
Kosaki_Overgrowth_Syndrome.yaml 93.8% 95.0% 91/97
Spinocerebellar_Ataxia_Type_31.yaml 93.8% 94.8% 167/178
Feingold_Syndrome.yaml 93.8% 94.8% 137/146
X-Linked_Hypophosphatemia.yaml 93.8% 94.0% 244/260
Heme_Oxygenase_1_Deficiency.yaml 93.9% 93.9% 397/423 1
Liddle_Syndrome.yaml 93.9% 94.5% 168/179
BMP2-Related_Short_Stature-Facial_Dysmorphism-Skeletal_Anomalies_Syndrome.yaml 93.9% 94.4% 382/407
TUBB2A_TUBB2B-related_Cortical_Malformation.yaml 93.9% 94.3% 199/212 2
Charcot-Marie-Tooth_Disease_Type_2.yaml 93.9% 94.6% 490/522
Chediak-Higashi_Syndrome.yaml 93.9% 95.0% 138/147
Psittacosis.yaml 93.9% 94.0% 46/49
Premenstrual_Dysphoric_Disorder.yaml 93.9% 94.2% 154/164
Cardiac_Facial_And_Digital_Anomalies_With_Developmental_Delay.yaml 93.9% 94.6% 309/329
Ornithine_Carbamoyltransferase_Deficiency.yaml 93.9% 94.4% 201/214
Amelogenesis_Imperfecta.yaml 93.9% 94.2% 232/247
Juvenile-Onset_Diabetes_Mellitus_with_Central_and_Peripheral_Neurodegeneration.yaml 93.9% 94.6% 232/247
Aland_Island_Eye_Disease.yaml 93.9% 94.6% 124/132
Burkitt_Lymphoma.yaml 93.9% 94.7% 124/132
Cardiac_Sarcoidosis.yaml 93.9% 94.1% 248/264
Chickenpox.yaml 93.9% 93.1% 155/165 1
Garg-Mishra_Progeroid_Syndrome.yaml 93.9% 94.5% 217/231
Hereditary_Spastic_Paraplegia_11.yaml 93.9% 95.2% 93/99 1
Immunodeficiency_96.yaml 93.9% 94.4% 217/231
PTCH1-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml 93.9% 94.7% 93/99
TMEM199-CDG.yaml 93.9% 94.6% 155/165
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_2A.yaml 94.0% 93.7% 202/215 1
Dermatomyositis.yaml 94.0% 94.6% 249/265
Acute_Hypotension.yaml 94.0% 94.5% 78/83
Aminoacylase_1_Deficiency.yaml 94.0% 95.1% 156/166
Palmoplantar_Keratoderma-Deafness_Syndrome.yaml 94.0% 95.2% 78/83
Craniopharyngioma.yaml 94.0% 94.9% 172/183
SEPSECS_Deficiency.yaml 94.0% 96.3% 47/50
Weaver_Syndrome.yaml 94.0% 94.8% 188/200 1
AFG2A-Related_Encephalopathy.yaml 94.0% 93.9% 220/234 1
Warburg_Cinotti_Syndrome.yaml 94.0% 95.0% 110/117
Immunodeficiency_128.yaml 94.0% 95.5% 126/134
Osteogenesis_Imperfecta_Type_X.yaml 94.0% 95.9% 63/67
Osteogenesis_Imperfecta_Type_XX.yaml 94.0% 95.9% 63/67
PET100-Related_COX_Deficiency.yaml 94.0% 94.9% 126/134
Riley-Day_Syndrome.yaml 94.0% 94.2% 316/336 1
Iron_Poisoning.yaml 94.1% 94.9% 269/286
Immunodeficiency_102.yaml 94.1% 95.1% 190/202
Platelet-Type_von_Willebrand_Disease.yaml 94.1% 95.4% 95/101
Waldenstrom_Macroglobulinemia.yaml 94.1% 94.5% 95/101
Auditory_Neuropathy.yaml 94.1% 94.1% 206/219 1
Cernunnos-XLF_deficiency.yaml 94.1% 95.1% 111/118
Ichthyotic_Keratoderma_Spasticity_Hypomyelination_And_Dysmorphic_Facial_Features.yaml 94.1% 95.2% 111/118
Short-Rib_Thoracic_Dysplasia_6_With_Or_Without_Polydactyly.yaml 94.1% 94.7% 111/118
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_103.yaml 94.1% 94.7% 127/135
Gilberts_Syndrome.yaml 94.1% 93.9% 207/220 1
Lymphoma.yaml 94.1% 93.5% 32/34 1
MT-ATP6_MT-ATP8-Related_Infantile_Hypertrophic_Cardiomyopathy.yaml 94.1% 95.0% 176/187
Malnutrition-related_Diabetes_Mellitus.yaml 94.1% 100.0% 16/17
Okur_Chung_neurodevelopmental_syndrome.yaml 94.1% 95.1% 96/102
Osteogenesis_Imperfecta_Type_XI.yaml 94.1% 96.1% 64/68
Osteogenesis_Imperfecta_Type_XVI.yaml 94.1% 95.9% 64/68
Thromboangiitis_Obliterans.yaml 94.1% 95.4% 112/119
Splenic_Marginal_Zone_Lymphoma.yaml 94.2% 94.5% 161/171
Congenital_Aural_Atresia.yaml 94.2% 95.0% 97/103
Glutathione_Synthetase_Deficiency.yaml 94.2% 95.3% 97/103
Pancreatic_Mucinous_Cystadenoma.yaml 94.2% 94.5% 97/103
Lymphatic_Filariasis.yaml 94.2% 94.0% 81/86
Vitamin_D-Dependent_Rickets_Type_3.yaml 94.2% 94.2% 260/276 2
Optic_Neuritis.yaml 94.2% 94.1% 212/225
Brachyphalangy_Polydactyly_Tibial_Aplasia_Syndrome.yaml 94.2% 95.2% 98/104
Autoimmune_Enteropathy.yaml 94.2% 94.5% 131/139
RP2-Related_Retinopathy.yaml 94.3% 95.8% 82/87
Familial_Mediterranean_Fever.yaml 94.3% 94.0% 148/157 2
ADGRG1_Bilateral_Frontoparietal_Polymicrogyria.yaml 94.3% 94.4% 247/262 3
Cold_Agglutinin_Disease.yaml 94.3% 94.2% 297/315
Osteogenesis_Imperfecta_Type_XVII.yaml 94.3% 96.2% 66/70
Pallister-Hall_Syndrome.yaml 94.3% 95.2% 99/105
Penile_Cancer.yaml 94.3% 94.5% 99/105
Fibrochondrogenesis.yaml 94.3% 95.0% 149/158
Beck-Fahrner_Syndrome.yaml 94.3% 95.9% 83/88
Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml 94.3% 95.2% 133/141
Barber-Say_Syndrome.yaml 94.3% 94.4% 383/406
Acute_Macular_Neuroretinopathy.yaml 94.3% 94.5% 50/53
Familial_Isolated_Vitamin_E_Deficiency.yaml 94.3% 95.7% 100/106
Intellectual_Developmental_Disorder_Autosomal_Dominant_72.yaml 94.3% 95.1% 250/265
ALG11-Congenital_Disorder_of_Glycosylation.yaml 94.4% 95.2% 284/301
Irritable_Bowel_Syndrome.yaml 94.4% 94.3% 117/124
Stickler_Syndrome_Type_2.yaml 94.4% 94.7% 184/195
Congenital_Renal_Artery_Stenosis.yaml 94.4% 95.9% 67/71
Osteogenesis_Imperfecta_Type_XIX.yaml 94.4% 96.2% 67/71
Sagittal_Sinus_Thrombosis.yaml 94.4% 96.2% 67/71
Travelers_Diarrhea.yaml 94.4% 94.5% 285/302
Posterior_Polymorphous_Corneal_Dystrophy.yaml 94.4% 95.8% 84/89
Visual_Snow_Syndrome.yaml 94.4% 94.3% 168/178 2
12p12.1_Microdeletion_Syndrome.yaml 94.4% 95.2% 101/107
Juvenile_Neuronal_Ceroid_Lipofuscinosis.yaml 94.4% 95.1% 219/232
COQ6-Related_Steroid-Resistant_Nephrotic_Syndrome.yaml 94.4% 94.5% 270/286
Diffuse_Nonepidermolytic_Palmoplantar_Keratoderma.yaml 94.4% 94.8% 135/143 1
SCUBE3-Related_Short_Stature_Syndrome.yaml 94.4% 94.1% 152/161
MPI-Congenital_Disorder_of_Glycosylation.yaml 94.4% 94.5% 355/376
Leber-like_Hereditary_Optic_Neuropathy_Autosomal_Recessive_1.yaml 94.4% 95.2% 186/197
Malaria.yaml 94.4% 94.2% 186/197 1
Isobutyryl-CoA_Dehydrogenase_Deficiency.yaml 94.4% 94.4% 203/215 1
AR_Cerebellar_Ataxia-Saccadic_Intrusion_Syndrome.yaml 94.4% 95.0% 136/144
Dentatorubral-Pallidoluysian_Atrophy.yaml 94.4% 95.0% 119/126
Hermansky_Pudlak_Syndrome.yaml 94.4% 95.0% 255/270
Otomycosis.yaml 94.4% 93.8% 187/198 2
Pemphigus_Vulgaris.yaml 94.4% 94.8% 136/144
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_17.yaml 94.5% 94.6% 188/199
Hirschsprung_Disease.yaml 94.5% 94.1% 137/145
Ayme-Gripp_Syndrome.yaml 94.5% 94.2% 120/127
Lipoic_Acid_Synthetase_Deficiency.yaml 94.5% 95.3% 120/127
X-Linked_Nephrogenic_Diabetes_Insipidus.yaml 94.5% 94.7% 309/327
USP9X_Female-Restricted_Syndromic_Intellectual_Disability.yaml 94.5% 95.2% 395/418
CHILD_Syndrome.yaml 94.5% 93.6% 361/382 2
You-Hoover-Fong_Syndrome.yaml 94.5% 96.5% 86/91
COX6B1-Related_COX_Deficiency.yaml 94.5% 94.1% 310/328
FOLR1-Related_Cerebral_Folate_Transport_Deficiency.yaml 94.5% 95.6% 121/128
Trichothiodystrophy.yaml 94.5% 94.7% 537/568 1
AA_Amyloidosis.yaml 94.5% 94.7% 364/385
Dyssegmental_Dysplasia.yaml 94.5% 95.6% 156/165
Familial_Renal_Glucosuria.yaml 94.5% 96.4% 52/55
TUBB1-related_Macrothrombocytopenia.yaml 94.5% 95.3% 104/110
Oppositional_Defiant_Disorder.yaml 94.6% 94.7% 122/129
pseudotumor_cerebri.yaml 94.6% 94.7% 244/258 1
Hereditary_Hyperferritinemia_With_Congenital_Cataracts.yaml 94.6% 94.6% 175/185
Osteogenesis_Imperfecta_Type_XIII.yaml 94.6% 96.3% 70/74
Renal_Artery_Obstruction.yaml 94.6% 95.7% 105/111
TCF20-Associated_Neurodevelopmental_Disorder.yaml 94.6% 95.4% 140/148
Cerebrocostomandibular_Syndrome.yaml 94.6% 95.2% 193/204
Acromesomelic_Dysplasia_PRKG2_Type.yaml 94.6% 95.5% 158/167
Noonan_Syndrome_with_Multiple_Lentigines.yaml 94.6% 95.3% 123/130
16p11.2_Deletion_Syndrome.yaml 94.6% 95.1% 211/223
Hereditary_Spastic_Paraplegia_7.yaml 94.6% 96.1% 88/93
Schindler_Disease.yaml 94.6% 96.7% 53/56
Schwartz-Jampel_Syndrome.yaml 94.6% 95.5% 265/280
Glycogen_Storage_Disease_Type_IX.yaml 94.7% 95.3% 249/263
Hypomyelinating_Leukodystrophy_7.yaml 94.7% 96.0% 89/94
Punctate_Palmoplantar_Keratoderma.yaml 94.7% 95.5% 107/113
Pancreatic_Agenesis.yaml 94.7% 95.7% 143/151
Blue_Cone_Monochromacy.yaml 94.7% 95.1% 215/227
Androgen_Insensitivity_Syndrome.yaml 94.7% 94.8% 521/550
Achondrogenesis_Type_IA.yaml 94.7% 95.0% 306/323
Humeroradial_Synostosis.yaml 94.7% 95.9% 108/114
Lone_Star_Virus_Infection.yaml 94.7% 100.0% 18/19
Triglyceride_Storage_Disease_Type_1.yaml 94.7% 95.9% 90/95
Fructose-1,6-Bisphosphatase_Deficiency.yaml 94.8% 96.0% 163/172
Frasier_Syndrome.yaml 94.8% 95.2% 145/153
IPEX_Syndrome.yaml 94.8% 95.8% 145/153
Li-Ghorbani-Weisz-Hubshman_Syndrome.yaml 94.8% 95.6% 109/115
Congenital_Myasthenic_Syndrome_6.yaml 94.8% 96.1% 91/96
TTN_Related_Myopathy_Dominant_Negative_TTNsv.yaml 94.8% 96.0% 91/96
46_XY_DSD_Due_to_5_Alpha_Reductase_2_Deficiency.yaml 94.8% 95.3% 164/173
Hypertrophic_Cardiomyopathy.yaml 94.8% 94.3% 310/327 2
EDEM3-Congenital_Disorder_of_Glycosylation.yaml 94.8% 95.5% 128/135
Adams-Oliver_Syndrome.yaml 94.8% 95.0% 311/328
Microcephaly_Short_Stature_and_Impaired_Glucose_Metabolism_1.yaml 94.8% 95.3% 311/328
Acute_Respiratory_Distress_Syndrome.yaml 94.8% 95.4% 220/232
Glycogen_Storage_Disease_Due_To_Aldolase_A_Deficiency.yaml 94.8% 95.3% 147/155 1
Carboxypeptidase_N_Deficiency.yaml 94.8% 95.0% 184/194
Dopa_Responsive_Dystonia.yaml 94.8% 95.9% 92/97
PRMT7-Related_Short_Stature-Brachydactyly_Syndrome.yaml 94.8% 96.2% 92/97
TARP_syndrome.yaml 94.8% 96.2% 92/97
Familial_Defective_Apolipoprotein_B-100.yaml 94.9% 95.1% 258/272
Cutaneous_Larva_Migrans.yaml 94.9% 95.5% 111/117
Juvenile_Sialidosis_Type_2.yaml 94.9% 96.5% 74/78
VPS51-Related_Pontocerebellar_Hypoplasia-CDG.yaml 94.9% 96.5% 74/78
Autosomal_Dominant_Cutis_Laxa_1.yaml 94.9% 95.0% 408/430
Legius_Syndrome.yaml 94.9% 95.7% 130/137 2
Aquarium_Granuloma.yaml 94.9% 94.6% 112/118 2
IFNAR1_Deficiency.yaml 94.9% 94.9% 112/118 1
Immunodeficiency_61.yaml 94.9% 96.1% 112/118
Asherman_Syndrome.yaml 94.9% 93.9% 318/335 3
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_53.yaml 94.9% 96.2% 75/79
Neuromyelitis_Optica_Spectrum_Disorder.yaml 94.9% 94.2% 75/79 1
POEMS_Syndrome.yaml 94.9% 96.2% 75/79
Spasmodic_Dysphonia.yaml 94.9% 96.4% 75/79
Steel_Syndrome.yaml 94.9% 95.5% 244/257
Developmental_And_Epileptic_Encephalopathy_50.yaml 94.9% 95.9% 169/178
Essential_Thrombocythemia.yaml 94.9% 96.3% 169/178
OPTN-related_Open_Angle_Glaucoma.yaml 95.0% 95.1% 207/218
Autosomal_Recessive_Hypophosphatemic_Rickets_1.yaml 95.0% 95.3% 358/377
Central_Nervous_System_Teratoma.yaml 95.0% 95.1% 132/139 1
Anterior_Spinal_Artery_Syndrome.yaml 95.0% 95.2% 151/159 1
Congenital_Vertebral-Cardiac-Renal_Anomalies_Syndrome.yaml 95.0% 95.1% 285/300
Immunodeficiency_25.yaml 95.0% 94.8% 114/120 1
Intellectual_Disability_Autosomal_Dominant_48.yaml 95.0% 95.4% 190/200 1
MERTK-Related_Retinopathy.yaml 95.0% 96.3% 95/100
Mitochondrial_Complex_I_Deficiency_Nuclear_Type_19.yaml 95.0% 95.9% 114/120
SYCP3-related_spermatogenic_failure.yaml 95.0% 96.9% 57/60
Transketolase_Deficiency.yaml 95.0% 96.7% 57/60
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml 95.0% 95.6% 230/242
Congenital_Merosin-deficient_Muscular_Dystrophy_1A.yaml 95.0% 95.0% 518/545
Autoimmune_Polyendocrinopathy.yaml 95.1% 95.2% 231/243 1
Osteogenesis_Imperfecta_Type_XIV.yaml 95.1% 96.7% 77/81
Osteogenesis_Imperfecta_Type_XV.yaml 95.1% 96.7% 77/81
Noonan_Syndrome.yaml 95.1% 95.2% 674/709
Immunodeficiency_74_COVID-19-related_X-linked.yaml 95.1% 95.8% 174/183 2
Meckel_Diverticulum.yaml 95.1% 96.2% 58/61
Bryant-Li-Bhoj_Neurodevelopmental_Syndrome_1.yaml 95.1% 95.4% 388/408
Combined_Immunodeficiency_Due_To_MALT1_Deficiency.yaml 95.1% 95.6% 214/225
CODAS_Syndrome.yaml 95.1% 95.4% 410/431
3-Methylcrotonyl-CoA_Carboxylase_Deficiency.yaml 95.1% 95.3% 176/185 1
Autosomal_Recessive_Spinocerebellar_Ataxia_16.yaml 95.2% 94.6% 511/537 1
CRADD-Related_Thin_Lissencephaly.yaml 95.2% 95.5% 277/291 1
Joint_Laxity_Short_Stature_and_Myopia.yaml 95.2% 96.3% 99/104
Juvenile_Idiopathic_Arthritis.yaml 95.2% 95.7% 199/209
Hereditary_Hemorrhagic_Telangiectasia_Type_1.yaml 95.2% 95.0% 219/230
Inborn_Disorder_of_Methionine_Cycle_and_Sulfur_Amino_Acid_Metabolism.yaml 95.2% 95.7% 319/335
Eosinophilia-Myalgia_Syndrome.yaml 95.2% 95.0% 320/336 1
Senior-Loken_Syndrome.yaml 95.2% 96.0% 180/189
Triosephosphate_Isomerase_Deficiency.yaml 95.2% 96.0% 200/210
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml 95.3% 95.7% 262/275
Carotid_Stenosis.yaml 95.3% 95.4% 121/127 1
Hereditary_Gingival_Fibromatosis.yaml 95.3% 96.1% 121/127
Delayed_Sleep_Phase_Syndrome.yaml 95.3% 96.3% 101/106
Dilated_Cardiomyopathy_1Y.yaml 95.3% 95.8% 101/106
Beare-Stevenson_Cutis_Gyrata_Syndrome.yaml 95.3% 95.9% 384/403
Split_Hand_Foot_Malformation.yaml 95.3% 96.0% 162/170
Osteochondrosis.yaml 95.3% 96.0% 183/192
COQ2-Related_Primary_Coenzyme_Q10_Deficiency.yaml 95.3% 95.6% 347/364
Maleylacetoacetate_Isomerase_Deficiency.yaml 95.3% 95.1% 184/193 1
Hypothalamic_Hamartoma_with_Gelastic_Seizures.yaml 95.3% 96.2% 164/172
Invasive_Candidiasis.yaml 95.3% 95.4% 82/86 1
Spinal_Cord_Ischemia.yaml 95.3% 94.3% 82/86 1
HELLP_Syndrome.yaml 95.4% 95.4% 267/280 1
46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml 95.4% 95.9% 186/195
Fibromuscular_Dysplasia.yaml 95.4% 96.1% 62/65
Membranous_Nephropathy.yaml 95.4% 95.7% 186/195
Hepatoblastoma.yaml 95.4% 96.0% 125/131
Apparent_Mineralocorticoid_Excess.yaml 95.4% 95.6% 314/329
Arsenic_Related_Cancers.yaml 95.5% 95.5% 273/286
Fanconi-Bickel_Syndrome.yaml 95.5% 96.5% 105/110
Ichthyosis_Vulgaris.yaml 95.5% 95.8% 210/220
Idiopathic_Triglyceride_Deposit_Cardiomyovasculopathy.yaml 95.5% 97.8% 42/44
Primary_Lateral_Sclerosis.yaml 95.5% 100.0% 21/22
Semantic_Dementia.yaml 95.5% 100.0% 21/22
Spinal_Muscular_Atrophy_Progressive_Myoclonic_Epilepsy.yaml 95.5% 97.1% 63/66
Bannayan-Riley-Ruvalcaba_Syndrome.yaml 95.5% 95.4% 380/398
Hyper-IgM_Syndrome_Type_2.yaml 95.5% 96.2% 169/177
Combined_Oxidative_Phosphorylation_Deficiency_51.yaml 95.5% 95.9% 233/244
PDE6A-Related_Retinopathy.yaml 95.5% 96.6% 85/89
Pompe_Disease.yaml 95.5% 95.5% 213/223
Congenital_Stationary_Night_Blindness.yaml 95.5% 96.1% 256/268
Hereditary_Methemoglobinemia.yaml 95.6% 96.3% 129/135
Tourette_Syndrome.yaml 95.6% 95.1% 172/180 1
Idiopathic_Pulmonary_Fibrosis.yaml 95.6% 95.8% 498/521 1
Combined_Malonic_and_Methylmalonic_Aciduria.yaml 95.6% 97.0% 65/68
Wissler_syndrome.yaml 95.6% 96.5% 217/227
Colchicine_Poisoning.yaml 95.6% 96.1% 174/182
Non-Syndromic_X-Linked_Intellectual_Disability.yaml 95.6% 95.7% 348/364
Primary_Cutaneous_Aggressive_Epidermotropic_CD8_T-cell_Lymphoma.yaml 95.6% 95.8% 87/91
Distal_Hereditary_Motor_Neuronopathy_Type_5B.yaml 95.6% 96.3% 109/114
Hereditary_Congenital_Facial_Paresis_3.yaml 95.6% 96.4% 109/114
L1_Syndrome.yaml 95.6% 96.7% 109/114
Anthracycline_Induced_Cardiomyopathy.yaml 95.6% 95.7% 285/298
Endomyocardial_Fibrosis.yaml 95.7% 96.2% 308/322
Multiple_Epiphyseal_Dysplasia_Beighton_Type.yaml 95.7% 96.5% 132/138
Uterine_Leiomyoma.yaml 95.7% 95.2% 330/345 1
46_XY_Partial_Gonadal_Dysgenesis.yaml 95.7% 96.0% 463/484
Intellectual_Disability_X-linked_Syndromic_33.yaml 95.7% 95.9% 265/277
Neurohypophyseal_Diabetes_Insipidus.yaml 95.7% 95.9% 221/231
Myiasis.yaml 95.7% 95.8% 377/394
Pseudoxanthoma_Elasticum.yaml 95.7% 96.6% 111/116
Short_Stature_Dauber-Argente_Type.yaml 95.7% 96.3% 111/116
Torsade_De_Pointes_Syndrome_With_Short_Coupling_Interval.yaml 95.7% 96.9% 111/116
Perivascular_Epithelioid_Cell_Neoplasm.yaml 95.7% 95.9% 89/93
Conduct_Disorder.yaml 95.7% 95.8% 156/163
Osteochondritis_of_Tarsal_Metatarsal_Bone.yaml 95.7% 97.3% 67/70
Trimethylaminuria.yaml 95.7% 97.2% 67/70
Reticular_Dysgenesis.yaml 95.7% 96.2% 224/234
Choriocarcinoma.yaml 95.7% 96.5% 292/305
RNU12-related_Minor_Spliceopathy.yaml 95.7% 97.9% 45/47
Spaceflight_Associated_Neuro-Ocular_Syndrome.yaml 95.7% 96.0% 90/94
CBL-related_Disorder.yaml 95.8% 97.3% 68/71
Post-Traumatic_Stress_Disorder.yaml 95.8% 96.0% 136/142
SECISBP2_Deficiency.yaml 95.8% 97.4% 68/71
Idiopathic_Gastroparesis.yaml 95.8% 96.4% 205/214
TUBB3-related_Tubulinopathy.yaml 95.8% 96.3% 160/167 2
Fetal_Growth_Restriction.yaml 95.8% 96.6% 161/168
Gamma-Glutamylcysteine_Synthetase_Deficiency.yaml 95.8% 96.8% 138/144
Osteogenesis_Imperfecta_Type_IX.yaml 95.8% 97.2% 92/96
Snakebite_Envenoming.yaml 95.8% 95.9% 23/24
Esophageal_Atresia.yaml 95.9% 95.8% 185/193
Familial_Visceral_Amyloidosis.yaml 95.9% 96.3% 185/193
Beta-Ketothiolase_Deficiency.yaml 95.9% 96.1% 301/314
Konzo.yaml 95.9% 95.9% 93/97
Glycogen_Storage_Disease_Type_I.yaml 95.9% 96.2% 303/316 1
Breast_Implant_Associated_Anaplastic_Large_Cell_Lymphoma.yaml 95.9% 93.7% 70/73 2
Marden-Walker_Syndrome.yaml 95.9% 97.5% 70/73
Bloom_Syndrome.yaml 95.9% 95.8% 281/293
STAT6_Gain_of_Function_Disease.yaml 95.9% 96.6% 164/171
Obesity_Due_to_MC4R_Pathway_Disruption.yaml 95.9% 97.4% 141/147
Urinary_Bladder_Small_Cell_Neuroendocrine_Carcinoma.yaml 95.9% 97.0% 94/98
Familial_Hemiplegic_Migraine.yaml 95.9% 96.2% 518/540 1
Sarcoglycanopathy.yaml 95.9% 96.5% 212/221
Cardiospondylocarpofacial_Syndrome.yaml 95.9% 96.0% 283/295
Sotos_Syndrome.yaml 96.0% 96.2% 403/420 1
EYS_Related_Retinitis_Pigmentosa.yaml 96.0% 96.9% 119/124
Inherited_Threoninemia.yaml 96.0% 96.8% 119/124
Yersinia_Enterocolitica_Infectious_Disease.yaml 96.0% 96.6% 143/149
Hypertrophic_Cardiomyopathy_14.yaml 96.0% 96.6% 167/174 1
ALPK3-Related_Hypertrophic_Cardiomyopathy.yaml 96.0% 95.8% 431/449
Dilated_Cardiomyopathy_1B.yaml 96.0% 97.2% 72/75
GNAS-related_pituitary_adenoma_3.yaml 96.0% 98.0% 96/100
Northern_Epilepsy.yaml 96.0% 98.1% 48/50
Portal_Hypertension_Noncirrhotic_2.yaml 96.0% 96.5% 192/200 1
Primary_Progressive_Aphasia.yaml 96.0% 100.0% 24/25
Progressive_Retinal_Dystrophy_Due_To_Retinol_Transport_Defect.yaml 96.0% 97.0% 120/125
Glomus_Tumor.yaml 96.0% 97.1% 265/276
Sitosterolemia.yaml 96.0% 97.1% 169/176
Hepatitis_C.yaml 96.0% 96.0% 314/327
DTYMK-Related_Neurodegeneration.yaml 96.0% 96.8% 267/278
Musculocontractural_Ehlers-Danlos_Syndrome.yaml 96.0% 97.1% 267/278
Cri-du-Chat_Syndrome.yaml 96.0% 97.2% 243/253
Rabies.yaml 96.0% 96.3% 243/253
Immunodeficiency_37.yaml 96.1% 96.8% 146/152
X-linked_Dystonia-Parkinsonism.yaml 96.1% 96.1% 195/203
Takotsubo_Cardiomyopathy.yaml 96.1% 96.8% 293/305
3-M_Syndrome.yaml 96.1% 95.4% 416/433
Biliary_Atresia.yaml 96.1% 96.0% 465/484 1
Amyotrophic_Lateral_Sclerosis.yaml 96.1% 96.1% 710/739 1
Auroneurodental_Syndrome.yaml 96.1% 96.3% 343/357
COG8-Congenital_Disorder_of_Glycosylation.yaml 96.1% 96.3% 320/333
Combined_Oxidative_Phosphorylation_Defect_Type_21.yaml 96.1% 96.9% 197/205
Giant_Cell_Arteritis.yaml 96.1% 96.5% 148/154
SCAD_Deficiency.yaml 96.1% 96.2% 124/129
Adult-Onset_Autosomal_Dominant_Demyelinating_Leukodystrophy.yaml 96.1% 96.2% 273/284 2
Developmental_And_Epileptic_Encephalopathy_38.yaml 96.1% 97.3% 149/155
Visceral_Heterotaxy_9.yaml 96.1% 96.9% 199/207
Acoustic_Neuroma.yaml 96.2% 96.1% 150/156 2
Chondrodysplasia_Blomstrand_Type.yaml 96.2% 96.4% 175/182
Cone-rod_Dystrophy_And_Hearing_Loss_2.yaml 96.2% 96.7% 150/156
Cough_Variant_Asthma.yaml 96.2% 97.5% 75/78
Intellectual_Disability_X-linked_102.yaml 96.2% 96.9% 300/312
Bailey-Bloch_Congenital_Myopathy.yaml 96.2% 96.7% 427/444
Van_Maldergem_Syndrome.yaml 96.2% 96.8% 176/183
Hyperprolinemia_Type_1.yaml 96.2% 97.3% 126/131
Infantile_Hypercalcemia.yaml 96.2% 96.5% 252/262
Methylmalonic_Aciduria_cblA_Type.yaml 96.2% 96.5% 353/367
Acquired_Thrombotic_Thrombocytopenic_Purpura.yaml 96.2% 96.1% 202/210
Kikuchi-Fujimoto_Disease.yaml 96.2% 97.3% 101/105
Noma.yaml 96.2% 97.2% 101/105
Traumatic_Brain_Injury.yaml 96.2% 96.7% 202/210
Alveolar_Soft_Part_Sarcoma.yaml 96.2% 95.2% 152/158 2
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_12.yaml 96.2% 96.6% 152/158
Relapsing_Polychondritis.yaml 96.2% 97.1% 152/158
Heparin-Induced_Thrombocytopenia.yaml 96.2% 96.9% 203/211
Autosomal_Dominant_Cerebellar_Ataxia.yaml 96.2% 96.3% 381/396
IL21R_Deficiency.yaml 96.2% 96.4% 127/132 1
Raine_Syndrome.yaml 96.2% 96.7% 305/317
Eosinophilic_Granulomatosis_with_Polyangiitis.yaml 96.2% 96.6% 178/185
Chondrodysplasia_Punctata_Tibial-metacarpal_Type.yaml 96.2% 97.3% 102/106
Hospital-Acquired_Acute_Kidney_Injury.yaml 96.2% 96.3% 153/159
Hypotrichosis_with_Juvenile_Macular_Dystrophy.yaml 96.2% 96.9% 153/159
IRF1_Deficiency.yaml 96.2% 97.3% 77/80
Metaphyseal_Chondrodysplasia_Jansen_Type.yaml 96.3% 96.8% 181/188
RAB23-Related_Carpenter_Syndrome.yaml 96.3% 96.4% 259/269 1
Genitopatellar_Syndrome.yaml 96.3% 97.3% 104/108
Mycetoma.yaml 96.3% 96.2% 104/108
RDH5-Related_Retinopathy.yaml 96.3% 97.4% 104/108
Taeniasis_Cysticercosis.yaml 96.3% 96.9% 104/108
PPP2R3C-Related_Gonadal_Dysgenesis_Syndrome.yaml 96.3% 97.3% 183/190
X-linked_Nonsyndromic_Hearing_Loss.yaml 96.3% 96.8% 157/163 1
Radioulnar_Synostosis_with_Amegakaryocytic_Thrombocytopenia.yaml 96.3% 96.5% 393/408
Carotid_Artery_Occlusion.yaml 96.3% 96.7% 105/109 1
Intellectual_Disability_Autosomal_Dominant_52.yaml 96.3% 97.2% 315/327
FAS-related_Autoimmune_Lymphoproliferative_Syndrome.yaml 96.3% 96.7% 184/191
Auriculocondylar_Syndrome.yaml 96.3% 96.2% 421/437
Congenital_Thrombotic_Thrombocytopenic_Purpura.yaml 96.3% 96.3% 158/164 1
COA3-Related_COX_Deficiency.yaml 96.4% 98.1% 53/55
Meacham_syndrome.yaml 96.4% 97.2% 106/110
Propionic_Acidemia.yaml 96.4% 96.8% 239/248
ornithine_aminotransferase_deficiency.yaml 96.4% 97.2% 160/166
BBSome-Related_Retinitis_Pigmentosa.yaml 96.4% 96.4% 267/277 1
Bone_Giant_Cell_Tumor.yaml 96.4% 96.5% 294/305
Sly_syndrome.yaml 96.4% 97.5% 107/111
Ataxia-Telangiectasia-Like_Disorder_2.yaml 96.4% 96.6% 134/139 1
Intellectual_Disability_Autosomal_Dominant_30.yaml 96.4% 97.4% 134/139
Androgenetic_Alopecia.yaml 96.4% 96.8% 456/473
Schneckenbecken_Dysplasia.yaml 96.4% 97.3% 188/195
Adenine_Phosphoribosyltransferase_Deficiency.yaml 96.4% 96.0% 296/307
Common_Variable_Immunodeficiency.yaml 96.4% 96.5% 323/335
Disabling_Pansclerotic_Morphea_Of_Childhood.yaml 96.4% 97.0% 243/252
Endophthalmitis.yaml 96.4% 97.0% 162/168
Hemochromatosis.yaml 96.4% 96.4% 378/392
Laryngotracheoesophageal_Cleft.yaml 96.4% 97.2% 162/168
MPDU1-congenital_disorder_of_glycosylation.yaml 96.4% 97.0% 189/196
Metaphyseal_Anadysplasia.yaml 96.4% 96.4% 108/112 1
Toxoplasmosis.yaml 96.4% 96.8% 324/336
Ataxia_Telangiectasia.yaml 96.5% 96.5% 327/339
Corticobasal_Syndrome.yaml 96.5% 97.8% 82/85
Noonan_Syndrome-like_Disorder_with_Loose_Anagen_Hair.yaml 96.5% 97.9% 82/85
Oculopharyngeal_Muscular_Dystrophy.yaml 96.5% 97.2% 137/142
RPE65-Related_Retinopathy.yaml 96.5% 97.3% 137/142
Triple_A_Syndrome.yaml 96.5% 97.4% 137/142
CNS_Vasculitis.yaml 96.5% 96.3% 302/313 1
Central_Precocious_Puberty.yaml 96.5% 96.4% 110/114
Exstrophy-Epispadias_Complex.yaml 96.5% 97.4% 110/114
IRX5-related_Craniofacial_Dysostosis_with_Osteopenia_Intellectual_Disability_and_Dental_Anomalies.yaml 96.5% 96.3% 110/114 1
Primary_Pigmented_Nodular_Adrenocortical_Disease.yaml 96.5% 97.2% 165/171
Salla_Disease.yaml 96.5% 96.2% 165/171 1
PRKN-Related_Juvenile_Parkinson_Disease.yaml 96.5% 96.8% 193/200 1
Anti-NMDA_Receptor_Encephalitis.yaml 96.5% 96.8% 221/229
Liberfarb_syndrome.yaml 96.5% 97.8% 83/86
Migraine.yaml 96.5% 96.0% 222/230
Rothmund-Thomson_Syndrome.yaml 96.5% 97.2% 195/202
Charcot-Marie-Tooth_Disease_Axonal_Type_2T.yaml 96.6% 97.1% 336/348
Johanson-Blizzard_Syndrome.yaml 96.6% 97.5% 140/145
Neuronopathy_Distal_Hereditary_Motor_Autosomal_Recessive_7.yaml 96.6% 96.5% 280/290 1
Oculofaciocardiodental_Syndrome.yaml 96.6% 97.7% 196/203
Acute_Myeloid_Leukemia_with_CEBPA_Somatic_Mutations.yaml 96.6% 97.7% 253/262
Alpha-gal_Syndrome.yaml 96.6% 96.8% 169/175
Coccidioidomycosis.yaml 96.6% 97.0% 310/321
AIPL1-Related_Retinopathy.yaml 96.6% 97.5% 113/117
Cerebellar_Ataxia_Intellectual_Disability_and_Dysequilibrium.yaml 96.6% 97.7% 113/117
Combined_Oxidative_Phosphorylation_Defect_Type_30.yaml 96.6% 97.3% 113/117
RLBP1-Related_Retinopathy.yaml 96.6% 97.6% 113/117
Congenital_Hypothyroidism.yaml 96.6% 96.7% 283/293
Congenital_Total_Pulmonary_Venous_Return_Anomaly.yaml 96.6% 97.9% 86/89
Silver_Russell_Syndrome.yaml 96.6% 97.5% 115/119
Coffin_Siris_Syndrome.yaml 96.6% 97.0% 403/417
Anaplastic_Large_Cell_Lymphoma.yaml 96.6% 95.7% 288/298 3
Glycogen_Storage_Disease_Type_0b.yaml 96.6% 97.7% 144/149
Juvenile_Amyotrophic_Lateral_Sclerosis.yaml 96.7% 97.0% 231/239
Chlorophacinone_Poisoning.yaml 96.7% 97.3% 232/240
VLCAD_Deficiency.yaml 96.7% 97.1% 261/270 2
Hidradenitis_Suppurativa.yaml 96.7% 96.8% 320/331
Rubella.yaml 96.7% 97.0% 88/91
Gitelman_Syndrome.yaml 96.7% 96.7% 177/183
Methylmalonyl-CoA_Epimerase_Deficiency.yaml 96.7% 96.4% 177/183 1
COG7-Congenital_Disorder_of_Glycosylation.yaml 96.7% 97.5% 207/214
Hyperinsulinemic_Hypoglycemia.yaml 96.7% 96.5% 504/521 2
ECHS1_Deficiency.yaml 96.7% 96.9% 89/92
IgG4-Related_Disease.yaml 96.7% 96.5% 445/460 2
Spermatogenic_Failure_18.yaml 96.7% 97.8% 89/92
Multiple_Endocrine_Neoplasia_Type_2.yaml 96.7% 97.6% 119/123
Immunodeficiency_73B.yaml 96.8% 97.4% 149/154
Peroxisome_Biogenesis_Disorder_6B.yaml 96.8% 96.8% 179/185 1
Combined_Immunodeficiency_Due_To_CD3gamma_Deficiency.yaml 96.8% 97.0% 418/432
Cowden_Syndrome.yaml 96.8% 97.1% 299/309
Adult_T_Cell_Leukemia_Lymphoma.yaml 96.8% 97.2% 180/186
COL11A2_Hearing_Loss.yaml 96.8% 97.3% 60/62 1
Mantle_Cell_Lymphoma.yaml 96.8% 96.8% 210/217
Metaphyseal_Chondrodysplasia_Schmid_Type.yaml 96.8% 97.5% 150/155
Progressive_Muscular_Atrophy.yaml 96.8% 98.5% 60/62
Hashimoto_Encephalopathy.yaml 96.8% 97.4% 151/156
Hereditary_Sensory_and_Autonomic_Neuropathy_Type_1E.yaml 96.8% 97.4% 151/156
Refeeding_Syndrome.yaml 96.8% 97.2% 182/188
22q11.2_Duplication_Syndrome.yaml 96.8% 96.9% 152/157
CRB1_Retinal_Dystrophies.yaml 96.8% 97.8% 152/157
PAX1-Related_Otofaciocervical_Syndrome.yaml 96.8% 97.5% 152/157
Chronic_Neurovisceral_Acid_Sphingomyelinase_Deficiency.yaml 96.8% 98.5% 61/63
Glutaryl-CoA_Dehydrogenase_Deficiency.yaml 96.8% 97.1% 366/378
KIF1A_Related_Neurological_Disorder.yaml 96.8% 97.2% 305/315 1
Phenylketonuria.yaml 96.8% 96.7% 488/504
ARX-Related_Lissencephaly_and_Interneuronopathy.yaml 96.8% 97.2% 275/284 1
Autosomal_Recessive_Ataxia_Beauce_Type.yaml 96.8% 97.7% 245/253
Gastrointestinal_Lymphoma.yaml 96.8% 98.1% 184/190
COG4-Congenital_Disorder_of_Glycosylation.yaml 96.9% 97.2% 246/254
Isovaleric_Acidemia.yaml 96.9% 97.3% 247/255
Kyphoscoliotic_Ehlers-Danlos_Syndrome.yaml 96.9% 97.0% 249/257 1
X-linked_Agammaglobulinemia.yaml 96.9% 97.6% 156/161
Menke-Hennekam_Syndrome.yaml 96.9% 97.4% 281/290
Pinta.yaml 96.9% 97.6% 125/129
Adult_Polyglucosan_Body_Disease.yaml 96.9% 97.4% 219/226
GM1_Gangliosidosis_Type_2.yaml 96.9% 98.0% 94/97
Infantile_Parkinsonism-Dystonia.yaml 96.9% 98.2% 94/97
PRPS1_Deficiency_Spectrum.yaml 96.9% 97.4% 188/194
Polymicrogyria_Perisylvian_With_Cerebellar_Hypoplasia_And_Arthrogryposis.yaml 96.9% 97.8% 188/194
Raynaud_Disease.yaml 96.9% 99.0% 94/97
D-2-Hydroxyglutaric_Aciduria.yaml 96.9% 97.0% 251/259 1
Acute_Annular_Outer_Retinopathy.yaml 96.9% 96.6% 157/162 1
Familial_Episodic_Pain_Syndrome_With_Predominantly_Lower_Limb_Involvement.yaml 96.9% 97.2% 157/162 1
Ichthyosiform_Erythroderma_Corneal_Involvement_And_Hearing_Loss.yaml 96.9% 96.9% 220/227
Achromatopsia.yaml 96.9% 96.2% 252/260 1
Familial_Glucocorticoid_Deficiency.yaml 96.9% 97.4% 189/195
Semicircular_Canal_Dehiscence_Syndrome.yaml 96.9% 97.1% 221/228
Autosomal_Recessive_Nonsyndromic_Hearing_Loss_15.yaml 96.9% 97.6% 158/163
Bacterial_meningitis.yaml 96.9% 96.9% 285/294
Furunculosis.yaml 96.9% 97.8% 127/131
Inborn_Disorder_of_Bile_Acid_Synthesis.yaml 96.9% 97.9% 127/131
Cranial_Dysinnervation_Disorder_Congenital_With_Absent_Corneal_Reflex_And_Developmental_Delay.yaml 97.0% 97.3% 191/197
FADD-related_Immunodeficiency.yaml 97.0% 97.7% 191/197
Beckwith-Wiedemann_Syndrome.yaml 97.0% 97.7% 160/165
Glucose-Galactose_Malabsorption.yaml 97.0% 98.6% 64/66
Porphyria_due_to_ALA_Dehydratase_Deficiency.yaml 97.0% 97.4% 193/199
Glycogen_Storage_Disease_Type_IV.yaml 97.0% 97.4% 292/301
Constitutional_Mismatch_Repair_Deficiency.yaml 97.0% 97.8% 296/305
Short_Stature_Amelogenesis_Imperfecta_And_Skeletal_Dysplasia_With_Scoliosis.yaml 97.0% 97.8% 296/305
Brain_Small_Vessel_Disease_1_With_Or_Without_Ocular_Anomalies.yaml 97.1% 97.3% 396/408
Myeloproliferative_Neoplasm_Unclassifiable.yaml 97.1% 100.0% 66/68
Peroxisome_Biogenesis_Disorder_6A_Zellweger.yaml 97.1% 98.0% 99/102
Autosomal_Recessive_Non-Syndromic_Intellectual_Disability.yaml 97.1% 97.3% 694/715 1
Autosomal_Dominant_Charcot-Marie-Tooth_Disease_Type_2K.yaml 97.1% 97.1% 298/307
Myalgic_Encephalomyelitis_Chronic_Fatigue_Syndrome.yaml 97.1% 97.0% 333/343 1
Autosomal_Recessive_Osteopetrosis_3.yaml 97.1% 97.3% 334/344
Glycogen_Storage_Disease_Type_V.yaml 97.1% 98.4% 101/104
Acute_Lymphoblastic_Leukemia.yaml 97.1% 97.6% 237/244
Hartnup_Disease.yaml 97.1% 97.6% 237/244
Citrullinemia_Type_I.yaml 97.1% 97.5% 271/279
Adrenal_Cortex_Adenoma.yaml 97.1% 97.7% 339/349
Holocarboxylase_Synthetase_Deficiency.yaml 97.1% 97.4% 272/280 1
Behr_Syndrome.yaml 97.2% 97.6% 307/316
Arthrogryposis-Renal_Dysfunction-Cholestasis_Syndrome.yaml 97.2% 97.4% 444/457 1
ABCC9-Related_Intellectual_Disability_and_Myopathy_Syndrome.yaml 97.2% 97.9% 308/317
Congenital_Fibrosis_of_the_Extraocular_Muscles.yaml 97.2% 97.8% 274/282
3MC_Syndrome.yaml 97.2% 97.5% 310/319
Zellweger_Spectrum_Disorders.yaml 97.2% 97.4% 379/390
Usher_Syndrome_Type_2.yaml 97.2% 97.5% 138/142 1
Hemophilia_B.yaml 97.2% 95.9% 381/392 2
Antiphospholipid_Syndrome.yaml 97.2% 96.4% 383/394 2
Nonketotic_Hyperglycinemia.yaml 97.2% 97.7% 209/215
Transaldolase_Deficiency.yaml 97.2% 97.3% 418/430
Polycystic_Kidney_Disease_2.yaml 97.2% 97.6% 175/180
Sensory_Ataxic_Neuropathy_Dysarthria_Ophthalmoparesis.yaml 97.2% 98.8% 70/72
THG1L-Related_Disorder.yaml 97.2% 98.5% 105/108
Tonne-Kalscheuer_Syndrome.yaml 97.2% 97.8% 210/216
Acute_Radiation_Syndrome.yaml 97.2% 97.3% 386/397
CHARGE_Syndrome.yaml 97.3% 97.9% 248/255
Acromesomelic_Dysplasia_Grebe_Type.yaml 97.3% 97.9% 142/146
IFNAR2_Deficiency.yaml 97.3% 97.7% 142/146 1
Tetanus.yaml 97.3% 96.7% 71/73 1
Achondroplasia.yaml 97.3% 97.3% 463/476 2
RHO-Related_Retinopathy.yaml 97.3% 98.3% 107/110
3-Phosphoglycerate_Dehydrogenase_Deficiency.yaml 97.3% 97.6% 250/257
Bjornstad_Syndrome.yaml 97.3% 97.6% 143/147
Hypotonia-Cystinuria_Syndrome.yaml 97.3% 97.9% 180/185
Yersinia_Pseudotuberculosis_Infectious_Disease.yaml 97.3% 98.2% 108/111
MSMO1_Deficiency.yaml 97.3% 98.0% 326/335
Neurodevelopmental_Disorder_With_or_Without_Autism_or_Seizures.yaml 97.3% 97.5% 326/335
Short-rib_Thoracic_Dysplasia_21_Without_Polydactyly.yaml 97.3% 97.7% 326/335
Sclerosteosis.yaml 97.3% 98.0% 145/149
Tay-Sachs_Disease.yaml 97.3% 96.7% 472/485 1
Du_Pan_Syndrome.yaml 97.3% 98.2% 109/112
N-Acetylglutamate_Synthase_Deficiency.yaml 97.3% 97.8% 218/224
RNASEH1-Related_Progressive_External_Ophthalmoplegia.yaml 97.3% 97.9% 183/188
Chronic_Myelomonocytic_Leukemia.yaml 97.3% 97.5% 110/113
Wolf-Hirschhorn_Syndrome.yaml 97.3% 97.8% 367/377
Acrofacial_Dysostosis_Cincinnati_Type.yaml 97.4% 97.6% 481/494
Biliary_Renal_Neurologic_And_Skeletal_Syndrome.yaml 97.4% 97.4% 259/266
Breast_Fibroadenoma.yaml 97.4% 97.2% 37/38
Combined_Pituitary_Hormone_Deficiencies_Genetic_Form.yaml 97.4% 97.8% 260/267
Cleft_Lip_Palate.yaml 97.4% 97.5% 112/115
Carnitine_Palmitoyltransferase_1A_Deficiency.yaml 97.4% 98.1% 150/154
Arboleda-Tham_Syndrome.yaml 97.4% 97.3% 303/311 1
2-Methylbutyryl-CoA_Dehydrogenase_Deficiency.yaml 97.4% 98.2% 190/195
Kufor-Rakeb_syndrome.yaml 97.4% 98.4% 114/117
Alopecia_Areata.yaml 97.5% 97.6% 153/157
Autosomal_Recessive_Spinocerebellar_Ataxia_20.yaml 97.5% 97.3% 459/471
Progressive_Pseudorheumatoid_Arthropathy_Of_Childhood.yaml 97.5% 98.1% 153/157
Campylobacteriosis.yaml 97.5% 97.3% 192/197
Pycnodysostosis.yaml 97.5% 98.2% 155/159
Immunodeficiency_62.yaml 97.5% 98.2% 194/199
CDH23-associated_pituitary_adenoma_5.yaml 97.5% 100.0% 39/40
Ludwigs_Angina.yaml 97.5% 98.2% 157/161
CTLA4_Haploinsufficiency.yaml 97.5% 97.6% 398/408
GM3_Synthase_Deficiency.yaml 97.5% 98.0% 199/204
Autosomal_Agammaglobulinemia.yaml 97.6% 97.8% 599/614
Arteriosclerotic_Retinopathy.yaml 97.6% 100.0% 40/41
Hemolytic_Disease_of_the_Fetus_and_Newborn.yaml 97.6% 98.3% 200/205
Peroxisome_Biogenesis_Disorder_5B.yaml 97.6% 97.6% 240/246 1
Polycystic_Kidney_Disease_3.yaml 97.6% 98.8% 80/82
Noonan_Syndrome_6.yaml 97.6% 98.1% 362/371 1
Selective_IgA_Deficiency.yaml 97.6% 97.5% 161/165
Age_Related_Macular_Degeneration.yaml 97.6% 97.5% 243/249 1
CPT1C-Related_Hereditary_Spastic_Paraplegia.yaml 97.6% 98.0% 243/249
Homocystinuria.yaml 97.6% 97.8% 405/415
Menkes_Disease.yaml 97.6% 97.6% 243/249
Bosch-Boonstra-Schaaf_Optic_Atrophy_Syndrome.yaml 97.6% 97.6% 244/250
Baraitser-Winter_Cerebrofrontofacial_Syndrome.yaml 97.6% 97.4% 611/626 3
Hyperphosphatemic_Familial_Tumoral_Calcinosis.yaml 97.6% 97.8% 367/376
SUFU-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml 97.6% 98.7% 82/84
Autosomal_Dominant_Osteopetrosis_Type_I.yaml 97.6% 98.0% 206/211
Pulmonary_Veno_Occlusive_Disease_And_Or_Pulmonary_Capillary_Haemangiomatosis.yaml 97.6% 98.3% 124/127
RECON_Progeroid_Syndrome.yaml 97.6% 98.2% 207/212
Erythrokeratodermia_Variabilis.yaml 97.6% 98.3% 166/170
Mucolipidosis_Type_III_Alpha_Beta.yaml 97.6% 98.0% 332/340
AIP-related_pituitary_adenoma_predisposition.yaml 97.7% 98.2% 209/214
FOXE3_Anterior_Segment_Dysgenesis.yaml 97.7% 98.8% 84/86
Juvenile_Polyposis_Syndrome.yaml 97.7% 97.8% 213/218
Placental_Abruption.yaml 97.7% 98.0% 256/262
Orofaciodigital_Syndrome.yaml 97.7% 98.0% 300/307
Hypomyelinating_Leukodystrophy_10.yaml 97.7% 98.2% 259/265
Amyloidosis.yaml 97.7% 97.6% 216/221 1
Severe_Congenital_Neutropenia_1_Autosomal_Dominant.yaml 97.7% 98.2% 216/221
Thrombocytopenia-Absent_Radius_Syndrome.yaml 97.7% 97.7% 173/177
Neuropsychiatric_SLE.yaml 97.8% 98.6% 218/223
Succinic_Semialdehyde_Dehydrogenase_Deficiency.yaml 97.8% 98.2% 218/223
Leber_Optic_Atrophy_and_Dystonia.yaml 97.8% 97.9% 175/179
45_X_46_XY_Mixed_Gonadal_Dysgenesis.yaml 97.8% 98.1% 307/314
Anti-GBM_Disease.yaml 97.8% 97.6% 176/180 1
Grange_syndrome.yaml 97.8% 98.9% 88/90
Shashi_X-Linked_Intellectual_Disability_Syndrome.yaml 97.8% 98.7% 132/135
MELAS_Syndrome.yaml 97.8% 97.7% 707/723
ALG6-Congenital_Disorder_of_Glycosylation.yaml 97.8% 98.2% 310/317
Alopecia-Intellectual_Disability_Syndrome_1.yaml 97.8% 98.4% 133/136
Alopecia-Intellectual_Disability_Syndrome_4.yaml 97.8% 98.5% 134/137
Renal_Nutcracker_Syndrome.yaml 97.8% 98.5% 134/137
Persistent_Mullerian_Duct_Syndrome.yaml 97.8% 97.8% 269/275
Adult-Onset_Ataxia_and_Polyneuropathy.yaml 97.8% 98.4% 225/230
Bohring-Opitz_syndrome.yaml 97.8% 97.8% 180/184 1
CKD-Mineral_Bone_Disorder.yaml 97.8% 98.6% 270/276
Metaphyseal_Dysplasia_Spahr_Type.yaml 97.8% 99.0% 91/93
Turner_Syndrome.yaml 97.9% 97.9% 367/375
ADNP-Related_Syndrome.yaml 97.9% 98.1% 323/330 2
Jervell_and_Lange-Nielsen_Syndrome_2.yaml 97.9% 98.5% 231/236
Listeriosis.yaml 97.9% 98.2% 186/190
Usher_Syndrome_Type_3.yaml 97.9% 98.2% 93/95 1
CHD2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 97.9% 99.1% 140/143
Lead_Poisoning.yaml 97.9% 97.9% 374/382 1
Fabry_Disease.yaml 97.9% 97.9% 421/430
EEFSEC_Deficiency.yaml 97.9% 100.0% 47/48
Familial_Focal_Epilepsy_With_Variable_Foci.yaml 97.9% 99.0% 94/96
Treacher_Collins_Syndrome.yaml 97.9% 97.4% 331/338 1
Dry_Eye_Disease.yaml 97.9% 97.9% 190/194 1
Sanfilippo_syndrome.yaml 97.9% 98.4% 238/243
Ageing_Associated_Decline_in_Intrinsic_Capacity.yaml 98.0% 98.3% 239/244
Hypertrophic_Cardiomyopathy_17.yaml 98.0% 98.9% 96/98
Metaphyseal_Dysplasia_with_Maxillary_Hypoplasia_and_Brachydactyly.yaml 98.0% 99.0% 96/98
Schnitzler_Syndrome.yaml 98.0% 98.1% 96/98
UV-Sensitive_Syndrome.yaml 98.0% 98.0% 144/147
Takayasu_Arteritis.yaml 98.0% 98.6% 241/246
Appendiceal_Neoplasm.yaml 98.0% 98.4% 145/148
Developmental_And_Epileptic_Encephalopathy_80.yaml 98.0% 98.9% 145/148
ANK2_Ankyrin_B_Syndrome.yaml 98.0% 98.5% 194/198
Arterial_Calcification_of_Infancy.yaml 98.0% 98.7% 147/150
SLC45A1-Related_Neuronal_Glucose_Transporter_Deficiency.yaml 98.0% 100.0% 49/50
Jervell_and_Lange-Nielsen_Syndrome_1.yaml 98.0% 98.5% 295/301
46_XX_Testicular_DSD.yaml 98.0% 98.4% 247/252
AHCY_Deficiency.yaml 98.0% 98.3% 348/355
Hyperprolinemia_Type_2.yaml 98.1% 98.7% 151/154
Kasabach-Merritt_Syndrome.yaml 98.1% 98.2% 151/154 1
Wolman_Disease.yaml 98.1% 98.7% 252/257
Tangier_Disease.yaml 98.1% 97.8% 354/361
Central_Congenital_Hypothyroidism.yaml 98.1% 98.7% 152/155
Ethylmalonic_Encephalopathy.yaml 98.1% 99.1% 103/105
Majeed_Syndrome.yaml 98.1% 99.0% 206/210
Larsen_Syndrome.yaml 98.1% 99.1% 104/106
ALK_Rearranged_NSCLC.yaml 98.1% 99.3% 157/160
MEDNIK_syndrome.yaml 98.1% 99.1% 106/108
Smith-Lemli-Opitz_syndrome.yaml 98.1% 98.1% 159/162
Bilateral_Microtia-Deafness-Cleft_Palate_Syndrome.yaml 98.2% 98.4% 268/273
Alstrom_Syndrome.yaml 98.2% 97.5% 218/222 1
Vitamin_K_Dependent_Coagulation_Factor_Deficiency.yaml 98.2% 98.8% 274/279
PGM2L1_Deficiency.yaml 98.2% 100.0% 55/56
Southern_Tick-Associated_Rash_Illness.yaml 98.2% 100.0% 55/56
Toxic_Shock_Syndrome.yaml 98.2% 98.3% 220/224
ANK2_Related_Complex_Neurodevelopmental_Disorder.yaml 98.2% 99.4% 168/171
Congenital_Epulis.yaml 98.2% 100.0% 56/57
EFL1-related_Shwachman-Diamond_syndrome.yaml 98.2% 99.1% 112/114
MCM3AP-Related_Peripheral_Neuropathy.yaml 98.2% 99.1% 112/114
Polycystic_Echinococcosis.yaml 98.2% 100.0% 56/57
Fetal_Alcohol_Spectrum_Disorder.yaml 98.3% 99.1% 113/115
Limb-Girdle_Muscular_Dystrophy_Autosomal_Dominant.yaml 98.3% 99.2% 113/115
Hypotonia_Infantile_with_Psychomotor_Retardation_and_Characteristic_Facies_3.yaml 98.3% 98.6% 397/404 1
3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml 98.3% 98.5% 228/232 1
Uner_Tan_Syndrome.yaml 98.3% 100.0% 57/58
Acute_Tricyclic_Antidepressant_Poisoning.yaml 98.3% 98.5% 457/465
Allergic_Cutaneous_Vasculitis.yaml 98.3% 98.6% 116/118
Ebstein_Anomaly.yaml 98.3% 98.5% 290/295
Livedoid_Vasculopathy.yaml 98.3% 100.0% 58/59
Retrograde_Cricopharyngeus_Dysfunction.yaml 98.3% 100.0% 58/59
Vitamin_D-Dependent_Rickets_Type_1B.yaml 98.3% 99.2% 175/178
Cleidocranial_Dysplasia.yaml 98.3% 99.2% 117/119
RPGR-Related_Retinopathy.yaml 98.3% 99.2% 117/119
Wiedemann-Steiner_Syndrome.yaml 98.3% 98.9% 293/298
Acute_Megakaryoblastic_Leukemia.yaml 98.3% 98.6% 352/358
Sifrim-Hitz-Weiss_Syndrome.yaml 98.3% 99.2% 118/120
Tetrahydrobiopterin_Deficiency.yaml 98.3% 98.9% 177/180
L-2-Hydroxyglutaric_Aciduria.yaml 98.3% 98.8% 237/241
Hereditary_Fructose_Intolerance.yaml 98.3% 98.9% 178/181
Arthrogryposis_Multiplex_Congenita.yaml 98.3% 97.6% 119/121 1
Jeavons_Syndrome.yaml 98.4% 99.2% 120/122
Acromesomelic_Dysplasia_Demirhan_Type.yaml 98.4% 98.7% 242/246
Atypical_Teratoid_Rhabdoid_Tumor.yaml 98.4% 98.2% 183/186
Adult-Onset_Myasthenia_Gravis.yaml 98.4% 97.9% 491/499 1
Frontonasal_Dysplasia.yaml 98.4% 99.2% 123/125
Otosclerosis.yaml 98.4% 97.8% 246/250 2
Alpers-Huttenlocher_Syndrome.yaml 98.4% 98.3% 431/438
Autosomal_Recessive_Multiple_Pterygium_Syndrome.yaml 98.4% 99.2% 124/126
Isolated_Woolly_Hair.yaml 98.4% 99.2% 124/126
Benign_Paroxysmal_Positional_Vertigo.yaml 98.4% 98.7% 250/254
Diabetes_Mellitus.yaml 98.4% 98.1% 567/576 2
Stiff_Person_Syndrome.yaml 98.4% 99.0% 189/192
SRD5A3-Congenital_Disorder_of_Glycosylation.yaml 98.4% 98.5% 253/257 2
Foodborne_Trematodiases.yaml 98.5% 100.0% 64/65
Williams_Syndrome.yaml 98.5% 98.6% 322/327
Acetaminophen_Hepatotoxicity.yaml 98.5% 98.4% 258/262
Erdheim-Chester_Disease.yaml 98.5% 98.6% 65/66
Arthrochalasia_Ehlers-Danlos_Syndrome.yaml 98.5% 98.7% 391/397
Cystinosis.yaml 98.5% 98.7% 457/464
VAMP2-Related_Disorder.yaml 98.5% 99.0% 328/333
Axenfeld-Rieger_syndrome.yaml 98.5% 98.7% 198/201 1
Idiopathic_Phalangeal_Acro-osteolysis.yaml 98.5% 100.0% 66/67
Bachmann-Bupp_Syndrome.yaml 98.5% 98.5% 463/470
Immunodeficiency_19.yaml 98.5% 99.0% 199/202
Prune_Belly_Syndrome.yaml 98.5% 98.6% 199/202 1
Atransferrinemia.yaml 98.5% 98.8% 332/337
Arterial_Tortuosity_Syndrome.yaml 98.5% 98.6% 133/135
Nemaline_Myopathy.yaml 98.5% 98.5% 401/407
COL11A2_Skeletal_Spectrum.yaml 98.5% 98.8% 134/136 1
Collagenous_Sprue.yaml 98.5% 99.3% 134/136
Attenuated_Mucopolysaccharidosis_Type_I.yaml 98.5% 99.0% 405/411
Distal_Myopathy_6_Adult-Onset_Autosomal_Dominant.yaml 98.5% 99.1% 203/206
TFRC-Related_Combined_Immunodeficiency.yaml 98.5% 99.0% 203/206
Hereditary_Xanthinuria.yaml 98.6% 99.5% 137/139
Acute_Intermittent_Porphyria.yaml 98.6% 98.7% 344/349
Osteosarcoma.yaml 98.6% 98.3% 138/140 1
Mucous_Membrane_Pemphigoid.yaml 98.6% 99.0% 279/283
Akinetopsia.yaml 98.6% 100.0% 70/71
MCAD_Deficiency.yaml 98.6% 98.6% 210/213
Meningioma.yaml 98.6% 99.0% 211/214
Adult-Type_Hypolactasia.yaml 98.6% 98.8% 214/217 1
Apert_Syndrome.yaml 98.6% 98.2% 287/291 1
Carnitine_Palmitoyltransferase_II_Deficiency.yaml 98.6% 98.9% 288/292 1
Agnathia-Otocephaly_Complex.yaml 98.6% 98.5% 362/367
CHRNA1-associated_Fetal_Hypo-akinesia_Disorder_of_Prenatal_Onset.yaml 98.6% 100.0% 73/74
Congenital_Lactase_Deficiency.yaml 98.6% 100.0% 73/74
FGFR1_Hypogonadotropic_Hypogonadism.yaml 98.6% 99.3% 146/148
AL_Amyloidosis.yaml 98.7% 98.7% 295/299
Methylmalonic_Acidemia.yaml 98.7% 98.9% 371/376
Hennekam_Lymphangiectasia-Lymphedema_Syndrome_2.yaml 98.7% 99.4% 149/151
Mullegama-Klein-Martinez_Syndrome.yaml 98.7% 99.4% 149/151
Postpoliomyelitis_Syndrome.yaml 98.7% 100.0% 75/76
Amyotrophic_Lateral_Sclerosis-Parkinsonism-Dementia_Complex.yaml 98.7% 98.5% 226/229 1
Congenital_Sucrase-Isomaltase_Deficiency.yaml 98.7% 99.4% 151/153
MGAT2-congenital_disorder_of_glycosylation.yaml 98.7% 99.4% 151/153
FICUS_syndrome.yaml 98.7% 100.0% 76/77
SETD5_Haploinsufficiency_Syndrome.yaml 98.7% 99.2% 383/388
Parvovirus_B19_Infection.yaml 98.7% 98.6% 156/158
Seizures-scoliosis-macrocephaly_Syndrome.yaml 98.7% 99.0% 393/398
Cranial_Neuralgia.yaml 98.7% 98.3% 236/239 1
OTUD6B-Related_Neurodevelopmental_Disorder.yaml 98.7% 99.2% 236/239
3-methylglutaconic_Aciduria_With_Deafness_Encephalopathy_And_Leigh-like_Syndrome.yaml 98.8% 98.9% 395/400 1
Marinesco-Sjogren_Syndrome.yaml 98.8% 99.4% 158/160
Neurodegeneration_With_Brain_Iron_Accumulation.yaml 98.8% 98.9% 158/160
Pyruvate_Carboxylase_Deficiency_Disease.yaml 98.8% 99.4% 158/160
Immunodeficiency_18.yaml 98.8% 99.4% 159/161
Peroxisome_Biogenesis_Disorder_4B.yaml 98.8% 99.0% 159/161
Kallmann_Syndrome.yaml 98.8% 99.2% 239/242
Cronkhite-Canada_syndrome.yaml 98.8% 100.0% 80/81
Hao-Fountain_syndrome.yaml 98.8% 100.0% 80/81
Renal_Tubular_Acidosis_Distal_4_with_Hemolytic_Anemia.yaml 98.8% 99.4% 160/162
Tyrosinemia_Type_I.yaml 98.8% 99.2% 242/245
Appendiceal_Neuroendocrine_Tumor.yaml 98.8% 100.0% 81/82
Arterial_Dissection_Lentiginosis_Syndrome.yaml 98.8% 100.0% 81/82
Aspartylglucosaminuria.yaml 98.8% 98.9% 324/328 2
Thymus_Neoplasm.yaml 98.8% 100.0% 81/82
SPOP-Related_Neurodevelopmental_Disorder.yaml 98.8% 99.2% 326/330
Peroxisome_Biogenesis_Disorder_1B.yaml 98.8% 99.0% 164/166
Galactosemia.yaml 98.8% 98.8% 247/250
Stevens-Johnson_Syndrome.yaml 98.8% 98.9% 247/250
Schaaf-Yang_Syndrome.yaml 98.8% 99.2% 250/253
Sialidosis_Type_1.yaml 98.8% 99.2% 250/253
Late-Onset_Pompe_Disease.yaml 98.8% 98.9% 336/340
Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml 98.8% 99.3% 253/256
Hereditary_Diffuse_Leukoencephalopathy_with_Spheroids.yaml 98.8% 100.0% 85/86
Lane_Hamilton_Syndrome.yaml 98.8% 100.0% 85/86
Pyruvate_Dehydrogenase_Deficiency.yaml 98.8% 99.1% 511/517
Atelosteogenesis_Type_III.yaml 98.8% 99.4% 171/173
Contact_Dermatitis.yaml 98.9% 98.9% 258/261
Oculomotor_Nerve_Palsy.yaml 98.9% 99.4% 258/261
Landau-Kleffner_Syndrome.yaml 98.9% 100.0% 87/88
Lesch-Nyhan_Syndrome.yaml 98.9% 99.2% 262/265
Hyper-IgM_Syndrome_Type_1.yaml 98.9% 99.4% 176/178
Hereditary_Orotic_Aciduria.yaml 98.9% 99.4% 177/179
Developmental_And_Epileptic_Encephalopathy_8.yaml 98.9% 99.2% 266/269
ReNU_Syndrome.yaml 98.9% 99.0% 271/274
ALG1-Congenital_Disorder_of_Glycosylation.yaml 98.9% 99.6% 182/184
Usher_Syndrome_Type_1.yaml 98.9% 99.5% 183/185
Atelosteogenesis_Type_II.yaml 98.9% 99.0% 276/279 1
Houge-Janssens_Syndrome.yaml 98.9% 99.5% 186/188
Amyotrophic_Lateral_Sclerosis_Type_1.yaml 98.9% 98.8% 373/377
Hennekam_Lymphangiectasia-Lymphedema_Syndrome_1.yaml 98.9% 99.3% 280/283
Beta_Mannosidosis.yaml 99.0% 99.3% 285/288
Limbic_Encephalitis.yaml 99.0% 99.0% 190/192
Melkersson_Rosenthal_syndrome.yaml 99.0% 100.0% 96/97
Atelosteogenesis_Type_I.yaml 99.0% 99.5% 193/195
COX14-Related_COX_Deficiency.yaml 99.0% 99.0% 195/197
6q16_Deletion_Syndrome.yaml 99.0% 99.3% 294/297
Sandestig-Stefanova_Syndrome.yaml 99.0% 99.2% 394/398
Alpha_Mannosidosis.yaml 99.0% 99.2% 494/499
CFAP418-related_Retinal_Ciliopathy.yaml 99.0% 100.0% 99/100
Adenosine_Kinase_Deficiency.yaml 99.0% 99.5% 199/201
Achoo_Syndrome.yaml 99.0% 100.0% 100/101
PRPH2-Related_Retinopathy.yaml 99.0% 100.0% 100/101
Schimke_Immuno-osseous_Dysplasia.yaml 99.0% 99.5% 200/202
Acrocallosal_Syndrome.yaml 99.0% 99.5% 202/204
Snyder-Robinson_Syndrome.yaml 99.0% 99.4% 306/309
Yaws.yaml 99.0% 98.9% 204/206
Autosomal_Dominant_Nonsyndromic_Hearing_Loss_9.yaml 99.0% 99.3% 309/312
47_XYY_Syndrome.yaml 99.0% 99.5% 208/210
Hereditary_Intrinsic_Factor_Deficiency.yaml 99.0% 100.0% 104/105
Alkaptonuria.yaml 99.1% 99.1% 314/317
Achondrogenesis_Type_II.yaml 99.1% 99.5% 211/213
Friedreich_Ataxia.yaml 99.1% 99.0% 423/427
Hunter_syndrome.yaml 99.1% 99.5% 212/214
Tyrosinemia_Type_II.yaml 99.1% 100.0% 106/107
Farber_Disease.yaml 99.1% 99.5% 213/215
Acrodysostosis.yaml 99.1% 99.6% 220/222
Hairy_Cell_Leukemia.yaml 99.1% 99.1% 110/111
Ulnar-Mammary_Syndrome.yaml 99.1% 99.6% 222/224
ATF6-Related_Retinopathy.yaml 99.1% 100.0% 112/113
Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml 99.1% 100.0% 113/114
Temtamy_Syndrome.yaml 99.1% 100.0% 114/115
Carbonic_Anhydrase_VA_Deficiency.yaml 99.1% 99.6% 230/232
Parathyroid_Hyperplasia.yaml 99.1% 99.2% 116/117
Autosomal_Dominant_Striatal_Neurodegeneration.yaml 99.2% 100.0% 117/118
Myxedema.yaml 99.2% 100.0% 117/118
Transverse_Myelitis.yaml 99.2% 100.0% 117/118
A20_Haploinsufficiency.yaml 99.2% 100.0% 118/119
Anal_Canal_Adenocarcinoma.yaml 99.2% 100.0% 118/119
Bile_Duct_Cyst.yaml 99.2% 100.0% 118/119
Maple_Syrup_Urine_Disease.yaml 99.2% 99.2% 354/357
Morquio_syndrome.yaml 99.2% 99.6% 236/238
Bells_Palsy.yaml 99.2% 99.3% 238/240
CALFAN_Syndrome.yaml 99.2% 100.0% 120/121
Hemophagocytic_Lymphohistiocytosis.yaml 99.2% 99.2% 241/243
Brown-Vialetto-Van_Laere_Syndrome.yaml 99.2% 100.0% 122/123
Pars_Planitis.yaml 99.2% 100.0% 122/123
Nager_Acrofacial_Dysostosis.yaml 99.2% 100.0% 123/124
Activated_PI3K-delta_Syndrome.yaml 99.2% 99.1% 247/249 1
Spondyloepimetaphyseal_Dysplasia_Bieganski_Type.yaml 99.2% 100.0% 124/125
Dimethylglycine_Dehydrogenase_Deficiency.yaml 99.2% 100.0% 125/126
Adenovirus_Respiratory_Infection.yaml 99.2% 99.2% 126/127
Aortic_Valve_Disease_2.yaml 99.2% 100.0% 126/127
Scimitar_Syndrome.yaml 99.2% 99.2% 126/127
Twin_to_Twin_Transfusion_Syndrome.yaml 99.2% 99.2% 127/128
Type_B_Insulin_Resistance_Syndrome.yaml 99.2% 100.0% 127/128
Cyclic_Hematopoiesis.yaml 99.2% 100.0% 129/130
Urticaria.yaml 99.2% 99.2% 130/131
Borderline_Personality_Disorder.yaml 99.3% 99.2% 133/134
Pseudopseudohypoparathyroidism.yaml 99.3% 99.6% 271/273
Ainhum.yaml 99.3% 100.0% 136/137
Classic_Familial_Adenomatous_Polyposis.yaml 99.3% 99.3% 274/276
Glycogen_Storage_Disease_XV.yaml 99.3% 100.0% 137/138
Carnitine-Acylcarnitine_Translocase_Deficiency.yaml 99.3% 99.7% 275/277
Acute_Lichenoid_Pityriasis.yaml 99.3% 99.6% 278/280
Blount_Disease.yaml 99.3% 100.0% 139/140
Meckel_Syndrome.yaml 99.3% 99.7% 278/280
Aneurysmal_Bone_Cyst.yaml 99.3% 100.0% 140/141
Arts_syndrome.yaml 99.3% 99.7% 280/282
UGDH-Related_Developmental_and_Epileptic_Encephalopathy_84.yaml 99.3% 100.0% 140/141
Autosomal_Dominant_Hypercholesterolemia_3.yaml 99.3% 99.3% 422/425
Blue_Rubber_Bleb_Nevus_Syndrome.yaml 99.3% 99.5% 282/284 1
Giardiasis.yaml 99.3% 99.3% 285/287
Alcohol_Use_Disorder.yaml 99.3% 99.5% 571/575
Body_Dysmorphic_Disorder.yaml 99.3% 100.0% 143/144
Cone_Dystrophy.yaml 99.3% 100.0% 146/147
Lysinuric_Protein_Intolerance.yaml 99.3% 100.0% 147/148
TUBGCP6-related_Microcephaly_and_Chorioretinopathy.yaml 99.3% 100.0% 147/148
Chorea-acanthocytosis.yaml 99.3% 100.0% 148/149
Seborrheic_Dermatitis.yaml 99.3% 100.0% 150/151
MEF2C-Related_Disorder.yaml 99.3% 100.0% 151/152
ACAD9_Deficiency.yaml 99.3% 99.3% 152/153
SHORT_Syndrome.yaml 99.3% 99.7% 304/306
Adult-Onset_Still_Disease.yaml 99.4% 100.0% 153/154
Fucosidosis.yaml 99.4% 99.7% 306/308
SHH_Holoprosencephaly_Spectrum.yaml 99.4% 99.7% 311/313
Acquired_Immunodeficiency_Syndrome.yaml 99.4% 100.0% 157/158
BLOC1S1-related_Complex_Neurodevelopmental_Disorder_with_Leukodystrophy.yaml 99.4% 100.0% 157/158
ACys_Amyloidosis.yaml 99.4% 100.0% 158/159
ALDH18A1_Cutis_Laxa.yaml 99.4% 100.0% 158/159
Acquired_Angioedema.yaml 99.4% 100.0% 160/161
Ameloblastoma.yaml 99.4% 100.0% 160/161
T-cell_Immunodeficiency_Congenital_Alopecia_and_Nail_Dystrophy.yaml 99.4% 100.0% 161/162
WAGR_Syndrome.yaml 99.4% 99.4% 323/325
Acatalasia.yaml 99.4% 100.0% 162/163
3p-_Syndrome.yaml 99.4% 99.7% 330/332
Leptospirosis.yaml 99.4% 99.4% 332/334
Lafora_Disease.yaml 99.4% 99.7% 333/335
Arsenic_Poisoning.yaml 99.4% 100.0% 168/169
Glycogen_Storage_Disease_Type_VII.yaml 99.4% 100.0% 168/169
Immunodeficiency_35.yaml 99.4% 100.0% 168/169
Bone_Fragility_With_Contractures_Arterial_Rupture_And_Deafness.yaml 99.4% 99.7% 337/339
Budd-Chiari_Syndrome.yaml 99.4% 99.4% 170/171
Desmoid_Tumor.yaml 99.4% 100.0% 170/171
COFS_Syndrome.yaml 99.4% 100.0% 172/173
Infantile-Onset_Pompe_Disease.yaml 99.4% 99.5% 344/346
MMACHC-related_Methylmalonic_Aciduria_and_Homocystinuria_cblC_Type.yaml 99.4% 100.0% 173/174
Sandhoff_Disease.yaml 99.4% 100.0% 173/174
BEST1-Related_Dominant_Retinopathy.yaml 99.4% 100.0% 174/175
CACNA1A_Related_Disorder.yaml 99.4% 100.0% 174/175
X-linked_Lymphoproliferative_Disease_Due_To_XIAP_Deficiency.yaml 99.4% 100.0% 175/176
BRAF_V600E_Mutant_NSCLC.yaml 99.4% 100.0% 176/177
Spinocerebellar_Ataxia_Type_17.yaml 99.4% 100.0% 177/178
Bart-Pumphrey_Syndrome.yaml 99.4% 100.0% 178/179
Deficiency_of_the_Interleukin-1_Receptor_Antagonist.yaml 99.4% 100.0% 178/179
Schnyder_Corneal_Dystrophy.yaml 99.4% 100.0% 180/181
IKBKG_Ectodermal_Dysplasia_with_Immunodeficiency.yaml 99.5% 99.7% 362/364
ZTTK_syndrome.yaml 99.5% 100.0% 183/184
Neurosarcoidosis.yaml 99.5% 100.0% 184/185
CD27-related_lymphoproliferative_and_immune_disorder.yaml 99.5% 100.0% 186/187
Cortisone_Reductase_Deficiency.yaml 99.5% 100.0% 186/187
Christianson_Syndrome.yaml 99.5% 100.0% 187/188
Blepharophimosis_Intellectual_Disability_Syndrome_MKB_Type.yaml 99.5% 100.0% 188/189
Amyotrophic_Lateral_Sclerosis_27_Juvenile.yaml 99.5% 99.7% 380/382
Clostridioides_difficile_Infection.yaml 99.5% 99.5% 190/191
Vertebral_Artery_Insufficiency.yaml 99.5% 100.0% 190/191
Becker_Muscular_Dystrophy.yaml 99.5% 99.7% 382/384
Autosomal_Recessive_Cerebellar_Ataxia_With_Late_Onset_Spasticity.yaml 99.5% 100.0% 194/195
Melorheostosis.yaml 99.5% 100.0% 194/195
Susac_Syndrome.yaml 99.5% 100.0% 195/196
Chylomicron_Retention_Disease.yaml 99.5% 99.7% 392/394
Machado_Joseph_Disease.yaml 99.5% 99.5% 197/198
STK4_Deficiency.yaml 99.5% 100.0% 198/199
ALG12_Congenital_Disorder_of_Glycosylation.yaml 99.5% 100.0% 199/200
ATRX_Syndrome.yaml 99.5% 100.0% 199/200
CADASIL_Type_1.yaml 99.5% 100.0% 199/200
Autoimmune_Autonomic_Ganglionopathy.yaml 99.5% 100.0% 202/203
ALG9-congenital_disorder_of_glycosylation.yaml 99.5% 100.0% 203/204
SETD1B-Related_Neurodevelopmental_Disorder.yaml 99.5% 100.0% 204/205
Evans_Syndrome.yaml 99.5% 100.0% 205/206
Asparagine_Synthetase_Deficiency.yaml 99.5% 100.0% 207/208
GABRB3-Related_Developmental_and_Epileptic_Encephalopathy.yaml 99.5% 100.0% 209/210
Aggressive_NK-cell_Leukemia.yaml 99.5% 100.0% 212/213
Secondary_Erythromelalgia.yaml 99.5% 100.0% 219/220
Vogt-Koyanagi-Harada_Disease.yaml 99.5% 99.6% 220/221
AGAT_Deficiency.yaml 99.5% 100.0% 221/222
Autoimmune_Pancreatitis.yaml 99.5% 99.8% 442/444
Ependymoma.yaml 99.6% 100.0% 227/228
Agenesis_of_the_Corpus_Callosum_with_Peripheral_Neuropathy.yaml 99.6% 100.0% 228/229
Autosomal_Recessive_Ataxia_Due_to_Ubiquinone_Deficiency.yaml 99.6% 100.0% 228/229
Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml 99.6% 100.0% 228/229
Antisynthetase_Syndrome.yaml 99.6% 99.6% 233/234
Genetic_Developmental_and_Epileptic_Encephalopathy.yaml 99.6% 99.6% 707/710
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml 99.6% 100.0% 237/238
Anaplastic_Thyroid_Carcinoma.yaml 99.6% 99.6% 237/238
Anorexia_Nervosa.yaml 99.6% 99.6% 243/244
Paraneoplastic_Neurological_Syndromes.yaml 99.6% 100.0% 247/248
COG1-congenital_disorder_of_glycosylation.yaml 99.6% 100.0% 252/253
Aromatase_Deficiency.yaml 99.6% 100.0% 255/256
Cystinuria.yaml 99.6% 99.6% 255/256
ALDH18A1_De_Barsy_Spectrum.yaml 99.6% 100.0% 256/257
Acute_Disseminated_Encephalomyelitis.yaml 99.6% 100.0% 256/257
Lethal_Congenital_Contracture_Syndrome.yaml 99.6% 99.8% 515/517
APL_PML_RARA.yaml 99.6% 100.0% 263/264
Say-Barber-Biesecker-Young-Simpson_Syndrome.yaml 99.6% 100.0% 263/264
Epidermolysis_Bullosa.yaml 99.6% 99.6% 267/268
Acquired_Partial_Lipodystrophy.yaml 99.6% 100.0% 268/269
Fraser_Syndrome.yaml 99.6% 100.0% 272/273
Acromesomelic_Dysplasia_Maroteaux_Type.yaml 99.6% 100.0% 276/277
COX15-Related_COX_Deficiency.yaml 99.6% 100.0% 276/277
Sick_Sinus_Syndrome_2_Autosomal_Dominant.yaml 99.7% 99.6% 295/296
Botulism.yaml 99.7% 99.7% 296/297
Amniotic_Band_Syndrome.yaml 99.7% 100.0% 297/298
Adult_Onset_Dystonia_Parkinsonism.yaml 99.7% 100.0% 308/309
Diphtheria.yaml 99.7% 100.0% 314/315
Porokeratosis.yaml 99.7% 100.0% 316/317
Biotinidase_Deficiency.yaml 99.7% 100.0% 335/336
Zimmermann_Laband_Syndrome.yaml 99.7% 100.0% 340/341
Hyperornithinemia_Hyperammonemia_Homocitrullinuria_Syndrome.yaml 99.7% 100.0% 345/346
Atrioventricular_Septal_Defect.yaml 99.7% 100.0% 362/363
46_XX_Gonadal_Dysgenesis.yaml 99.7% 100.0% 366/367
Amniotic_Fluid_Embolism.yaml 99.7% 100.0% 376/377
46_XY_complete_gonadal_dysgenesis.yaml 99.7% 100.0% 384/385
Bosma_Arhinia_Microphthalmia_Syndrome.yaml 99.7% 99.6% 389/390
Autosomal_Recessive_Dopa_Responsive_Dystonia.yaml 99.7% 100.0% 395/396
Stargardt_Disease.yaml 99.8% 99.8% 400/401
Cerebrotendinous_Xanthomatosis.yaml 99.8% 100.0% 433/434
Pontocerebellar_Hypoplasia.yaml 99.8% 100.0% 435/436
Aortic_Valve_Stenosis.yaml 99.8% 100.0% 451/452
Berardinelli_Seip_Congenital_Lipodystrophy.yaml 99.8% 100.0% 514/515
Basel-Vanagaite-Smirin-Yosef_Syndrome.yaml 99.8% 100.0% 605/606
Acne_Vulgaris.yaml 100.0% 100.0% 179/179
Acute_Flaccid_Myelitis.yaml 100.0% 100.0% 236/236
Atrial_Septal_Defect.yaml 100.0% 100.0% 280/280
Attention_Deficit-Hyperactivity_Disorder.yaml 100.0% 100.0% 170/170
Auto-Brewery_Syndrome.yaml 100.0% 100.0% 137/137
Autoimmune_Hepatitis.yaml 100.0% 100.0% 212/212
Autoinflammation_Immune_Dysregulation_and_Eosinophilia.yaml 100.0% 100.0% 222/222
Autosomal_Dominant_Cerebellar_Ataxia_Type_I.yaml 100.0% 100.0% 396/396
Autosomal_Dominant_Cerebellar_Ataxia_Type_III.yaml 100.0% 100.0% 268/268
Autosomal_Dominant_Dopa_Responsive_Dystonia.yaml 100.0% 100.0% 213/213
Autosomal_Dominant_Epilepsy_with_Auditory_Features.yaml 100.0% 100.0% 370/370
Autosomal_Recessive_Primary_Microcephaly.yaml 100.0% 100.0% 517/517
BCKDK_Deficiency.yaml 100.0% 100.0% 238/238
BRAF_V600_Mutant_Melanoma.yaml 100.0% 100.0% 250/250
Babesiosis.yaml 100.0% 100.0% 358/358
Binge_Eating_Disorder.yaml 100.0% 100.0% 123/123
Bird_Fanciers_Lung.yaml 100.0% 100.0% 275/275
Blau_Syndrome.yaml 100.0% 100.0% 238/238
Borjeson-Forssman-Lehmann_syndrome.yaml 100.0% 100.0% 250/250
Cholesteatoma.yaml 100.0% 100.0% 224/224
Folliculitis.yaml 100.0% 100.0% 296/296
Hand_Foot_and_Mouth_Disease.yaml 100.0% 100.0% 232/232
Left_Ventricular_Noncompaction_8.yaml 100.0% 100.0% 284/284
Lynch_Syndrome.yaml 100.0% 100.0% 269/269
SETBP1_Disorder.yaml 100.0% 100.0% 84/84
Taurodontism.yaml 100.0% 100.0% 140/140
Thallium_Poisoning.yaml 100.0% 100.0% 245/245
Trehalase_Deficiency.yaml 100.0% 100.0% 120/120
UGP2-Related_Developmental_and_Epileptic_Encephalopathy_83.yaml 100.0% 100.0% 147/147
Vitamin_D-Dependent_Rickets_Type_1A.yaml 100.0% 100.0% 176/176

DISMECH Capability Metrics

Tracking 3,300 curated entries, 228,943 evidence items, 148,879 ontology-grounded terms, and 23,140 pathophysiology nodes. Average weighted compliance is 90.1%. MONDO human-disease coverage includes 3,215 exact-page terms and 11,277 exact-or-parent represented terms.

View the capability metrics report

Not Yet Curated Disease Links

Found 772 referenced MONDO disease terms without local pages across 865 linking page references.

View the uncurated disease link report

Phenotype Systems

The median disease appears in 5 HPO top-level systems but spans 4.2 effectively; 57.4% of diseases have a combination of systems no other disease shares.

View the phenotype systems report

MONDO Curation Priorities

25917 of 31557 MONDO candidates remain after accounting for 5640 already curated diseases. Top remaining candidate: Castleman disease (79.5).

3160 of those remaining candidates carry a Named Entity Confusion (NEC) risk flag — names a deep-research tool may resolve to the wrong disease. Risk classes: research/nec_risk_disease_classes.md.

View the curation priority dashboard