QC Dashboard - Multi-File Comparison

1827 files analyzed (sorted by compliance, lowest first)

Files Analyzed

1827

Average Compliance

89.1%

Total Checks

240300/269755

Total Violations

554

Slot Compliance Comparison

File Comparison

Priority Files - Detailed View

Showing the 10 files with lowest compliance for prioritized curation.

#1: Rasmussen_Encephalitis.yaml (41.0%)

Detail for Rasmussen_Encephalitis.yaml

#2: SCN2A-Related_Developmental_and_Epileptic_Encephalopathy.yaml (42.3%)

Detail for SCN2A-Related_Developmental_and_Epileptic_Encephalopathy.yaml

#3: Sturge-Weber_Syndrome.yaml (43.9%)

Detail for Sturge-Weber_Syndrome.yaml

#4: Epilepsy_with_Myoclonic_Atonic_Seizures.yaml (44.0%)

Detail for Epilepsy_with_Myoclonic_Atonic_Seizures.yaml

#5: Lennox-Gastaut_Syndrome.yaml (45.1%)

Detail for Lennox-Gastaut_Syndrome.yaml

#6: Childhood_Absence_Epilepsy.yaml (45.2%)

Detail for Childhood_Absence_Epilepsy.yaml

#7: Juvenile_Myoclonic_Epilepsy.yaml (45.8%)

Detail for Juvenile_Myoclonic_Epilepsy.yaml

#8: SCN8A-Related_Developmental_and_Epileptic_Encephalopathy.yaml (46.4%)

Detail for SCN8A-Related_Developmental_and_Epileptic_Encephalopathy.yaml

#9: Self-Limited_Epilepsy_with_Centrotemporal_Spikes.yaml (47.2%)

Detail for Self-Limited_Epilepsy_with_Centrotemporal_Spikes.yaml

#10: Epilepsy_of_Infancy_with_Migrating_Focal_Seizures.yaml (48.7%)

Detail for Epilepsy_of_Infancy_with_Migrating_Focal_Seizures.yaml

All Files (Sorted by Priority)

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

File Global Weighted Populated Violations
#1 Rasmussen_Encephalitis.yaml 41.0% 53.5% 25/61 1
#2 SCN2A-Related_Developmental_and_Epileptic_Encephalopathy.yaml 42.3% 53.7% 30/71 1
#3 Sturge-Weber_Syndrome.yaml 43.9% 56.0% 50/114 1
#4 Epilepsy_with_Myoclonic_Atonic_Seizures.yaml 44.0% 55.6% 33/75 1
#5 Lennox-Gastaut_Syndrome.yaml 45.1% 53.7% 46/102 2
#6 Childhood_Absence_Epilepsy.yaml 45.2% 56.5% 42/93 1
#7 Juvenile_Myoclonic_Epilepsy.yaml 45.8% 57.1% 33/72 1
#8 SCN8A-Related_Developmental_and_Epileptic_Encephalopathy.yaml 46.4% 58.4% 32/69 1
#9 Self-Limited_Epilepsy_with_Centrotemporal_Spikes.yaml 47.2% 54.7% 34/72 2
#10 Epilepsy_of_Infancy_with_Migrating_Focal_Seizures.yaml 48.7% 60.7% 38/78 1
Febrile_Infection-Related_Epilepsy_Syndrome.yaml 48.8% 61.8% 62/127 1
Gerstmann-Straussler-Scheinker_Syndrome.yaml 51.6% 64.3% 64/124 1
GNAO1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 52.4% 64.8% 65/124 1
Vici_Syndrome.yaml 54.1% 68.6% 79/146
PPP2R3C-Related_Gonadal_Dysgenesis_Syndrome.yaml 54.1% 70.3% 98/181
PCDH19_Clustering_Epilepsy.yaml 55.2% 60.5% 48/87 2
Acute_Post-Surgical_Pain.yaml 55.4% 70.2% 41/74
Cerebral_Palsy.yaml 55.7% 69.0% 97/174 1
Mabry_Syndrome.yaml 56.8% 68.5% 105/185 1
Pyridoxine-Dependent_Epilepsy.yaml 57.8% 62.4% 52/90 3
ZNF407-Related_Neurodevelopmental_Disorder.yaml 58.8% 75.3% 67/114
Short_Stature_Microcephaly_and_Endocrine_Dysfunction.yaml 60.0% 75.0% 30/50
PNPO_Deficiency.yaml 60.7% 63.9% 54/89 3
CDKL5_Deficiency_Disorder.yaml 62.0% 67.8% 75/121 2
Major_Depressive_Disorder.yaml 62.8% 64.7% 147/234 2
PRMT7-Related_Short_Stature-Brachydactyly_Syndrome.yaml 63.3% 78.3% 50/79
STX1B-Related_Epilepsy.yaml 63.4% 65.3% 52/82 2
Chronic_Kidney_Disease.yaml 63.4% 66.5% 85/134
FGFR_Altered_Cholangiocarcinoma.yaml 63.5% 67.9% 54/85 1
Alveolar_Rhabdomyosarcoma.yaml 63.9% 62.9% 204/319 3
CPLX1-Related_DEE.yaml 64.4% 66.7% 56/87 2
KCNQ2_Developmental_and_Epileptic_Encephalopathy.yaml 64.6% 68.5% 53/82 2
Familial_Atrial_Fibrillation.yaml 64.8% 70.3% 70/108
Hepatocellular_Carcinoma.yaml 64.9% 65.8% 124/191 3
Pinta.yaml 65.0% 69.1% 13/20
Aflatoxin_Related_HCC.yaml 65.1% 66.5% 112/172
DNM1_Encephalopathy.yaml 65.2% 67.2% 60/92 2
IDH_Mutant_Astrocytoma.yaml 65.2% 68.8% 45/69 1
IDH_Mutant_Cholangiocarcinoma.yaml 65.4% 68.5% 53/81 1
Gastroesophageal_Reflux_Disease.yaml 65.6% 70.7% 40/61
Uveal_Melanoma.yaml 65.6% 67.1% 63/96 1
Osteoporosis.yaml 65.8% 67.3% 79/120 1
HER2_Positive_Gastric_Cancer.yaml 66.3% 70.6% 57/86 1
Allergic_Cutaneous_Vasculitis.yaml 66.3% 68.4% 67/101
SYNGAP1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 66.4% 71.0% 71/107 2
Li-Fraumeni_Syndrome.yaml 66.5% 68.8% 111/167 1
CRADD-Related_Thin_Lissencephaly.yaml 66.7% 71.1% 40/60 1
Diffuse_Large_B_Cell_Lymphoma.yaml 66.7% 70.0% 74/111 1
Gastrointestinal_Stromal_Tumor.yaml 66.7% 72.3% 40/60 1
Generalized_Anxiety_Disorder.yaml 66.7% 72.8% 54/81
Multiple_Endocrine_Neoplasia_Type_2.yaml 66.7% 69.5% 50/75 1
Pheochromocytoma_Paraganglioma.yaml 66.7% 69.1% 62/93 1
Primary_Biliary_Cholangitis.yaml 66.7% 70.0% 32/48
Primary_Sclerosing_Cholangitis.yaml 66.7% 72.8% 30/45
Retinoblastoma.yaml 66.7% 72.5% 40/60 1
SNAP25_Encephalopathy.yaml 67.0% 69.1% 63/94 2
Multiple_Synostoses_Syndrome.yaml 67.1% 72.5% 47/70
Triglyceride_Storage_Disease_Type_1.yaml 67.2% 75.9% 41/61
Fibromyalgia.yaml 67.3% 71.7% 72/107
Alpha_1_Antitrypsin_Deficiency.yaml 67.4% 68.5% 149/221 1
Kaposi_Sarcoma.yaml 67.4% 69.9% 58/86 1
HIDEA_Syndrome.yaml 67.5% 72.9% 54/80 1
IDH_Mutant_Oligodendroglioma.yaml 67.5% 69.3% 54/80 1
Glioblastoma_IDH_Wildtype.yaml 67.6% 69.3% 75/111 1
HPV_Negative_Head_and_Neck_Cancer.yaml 67.6% 69.7% 75/111 1
Mixed_Germ_Cell_Tumor.yaml 67.6% 72.5% 73/108
Human_Metapneumovirus_Infection.yaml 67.7% 80.7% 21/31
Essential_Thrombocythemia.yaml 67.8% 79.3% 118/174
Camptodactyly.yaml 68.0% 71.3% 51/75 1
IDH_Mutant_AML.yaml 68.0% 70.2% 66/97 1
RET_Fusion_Thyroid_Cancer.yaml 68.1% 70.3% 49/72 1
Spinocerebellar_Ataxia_Type_15_16.yaml 68.1% 73.8% 32/47 1
Desmoplastic_Small_Round_Cell_Tumor.yaml 68.1% 72.1% 47/69
Triple_Negative_Breast_Cancer.yaml 68.1% 70.9% 47/69 1
Alopecia_Areata.yaml 68.2% 69.3% 30/44
Hereditary_Spastic_Paraplegia_48.yaml 68.2% 76.0% 30/44
Coronary_Artery_Disease.yaml 68.2% 70.4% 73/107 2
FGFR_Altered_Urothelial_Carcinoma.yaml 68.3% 70.3% 41/60 1
Frontotemporal_Dementia.yaml 68.3% 70.4% 41/60 1
Bronchiectasis.yaml 68.4% 72.8% 80/117 1
Atypical_Hemolytic_Uremic_Syndrome.yaml 68.5% 69.6% 148/216
Peripheral_Artery_Disease.yaml 68.6% 74.0% 48/70
Beta_Thalassemia.yaml 69.0% 74.5% 118/171
HER2_Positive_Colorectal_Cancer.yaml 69.0% 76.7% 58/84 1
Q_Fever.yaml 69.4% 77.7% 43/62
Oral_Cavity_Squamous_Cell_Carcinoma.yaml 69.4% 74.2% 68/98
Juvenile_Idiopathic_Arthritis.yaml 69.6% 79.4% 117/168 1
Warburg_Micro_Syndrome.yaml 69.7% 75.0% 122/175
Medulloblastoma_WNT_Activated.yaml 69.7% 71.4% 53/76 1
Senior-Loken_Syndrome.yaml 69.7% 79.4% 106/152
SRPX2-related_Speech_Epilepsy_Polymicrogyria.yaml 70.0% 73.1% 77/110 2
Heyn-Sproul-Jackson_syndrome.yaml 70.1% 73.9% 47/67 1
SNF8-Related_Neurodevelopmental_Disorder.yaml 70.1% 75.0% 94/134
Primary_Ciliary_Dyskinesia_47_and_Lissencephaly.yaml 70.2% 74.6% 73/104
TP63_Ectodermal_Dysplasia_Spectrum.yaml 70.3% 74.9% 71/101 1
Infantile_Myofibromatosis.yaml 70.5% 79.8% 31/44
Danon_disease.yaml 70.5% 78.2% 122/173
Keratosis_Follicularis_Spinulosa_Decalvans.yaml 70.7% 77.7% 118/167
Mesial_Temporal_Lobe_Epilepsy_with_Hippocampal_Sclerosis.yaml 70.8% 71.6% 51/72 1
Pancreatic_Ductal_Adenocarcinoma.yaml 71.1% 74.0% 133/187 3
Autosomal_Dominant_Polycystic_Kidney_Disease.yaml 71.2% 78.8% 156/219
Cervical_Cancer.yaml 71.3% 75.3% 77/108
Hepatitis_C.yaml 71.4% 75.8% 45/63 1
Type_2_Diabetes_Mellitus.yaml 71.7% 74.9% 137/191 2
Rhinovirus_Infection.yaml 71.9% 79.3% 23/32
Ewing_Sarcoma.yaml 72.0% 72.3% 303/421 2
Immune_Thrombocytopenia.yaml 72.0% 78.5% 36/50
Nasopharyngeal_Carcinoma.yaml 72.0% 74.5% 72/100 1
FLNA_Intestinal_Pseudoobstruction.yaml 72.1% 75.4% 44/61
NTRK_Fusion_Positive_Cancer.yaml 72.1% 73.6% 44/61 1
Autoimmune_Retinopathy.yaml 72.2% 75.8% 57/79
Malignant_Mesothelioma.yaml 72.2% 76.0% 57/79 1
Gastric_Ulcer.yaml 72.2% 73.9% 13/18
Sengers_syndrome.yaml 72.3% 79.8% 99/137
Central_Nervous_System_Germ_Cell_Tumor.yaml 72.3% 70.5% 136/188 2
Diffuse_Astrocytoma.yaml 72.4% 77.2% 63/87
Glycoprotein_Storage_Disease.yaml 72.4% 79.4% 42/58
Terminal_Osseous_Dysplasia.yaml 72.8% 78.2% 75/103
KRAS_G12C_Mutant_NSCLC.yaml 72.8% 75.0% 59/81 1
Chronic_Lymphocytic_Leukemia.yaml 72.9% 74.9% 78/107 1
Focal_Segmental_Glomerulosclerosis.yaml 72.9% 75.8% 113/155 1
Pfeiffer_Syndrome.yaml 72.9% 80.6% 70/96
Primary_Myelofibrosis.yaml 73.0% 80.1% 154/211 1
Autosomal_Dominant_Osteopetrosis_Type_II.yaml 73.0% 77.3% 92/126
HPV_Positive_Head_and_Neck_Cancer.yaml 73.1% 75.4% 57/78 1
Metastatic_Melanoma.yaml 73.2% 75.7% 60/82 1
Timothy_Syndrome.yaml 73.2% 75.4% 104/142 4
BRAF_Mutant_Thyroid_Cancer.yaml 73.3% 74.6% 63/86 1
Gastric_Cancer_H_pylori_Associated.yaml 73.3% 76.8% 85/116
Diamond-Blackfan_Anemia.yaml 73.3% 76.0% 88/120
Heart_Failure.yaml 73.3% 77.4% 66/90
Mycoplasma_Pneumoniae_Pneumonia.yaml 73.5% 78.6% 25/34
You-Hoover-Fong_Syndrome.yaml 73.6% 79.1% 39/53
Laryngeal_Squamous_Cell_Carcinoma.yaml 73.6% 77.0% 81/110
Drug_or_Toxin-Induced_Pulmonary_Arterial_Hypertension.yaml 73.7% 75.7% 56/76 2
Respiratory_Syncytial_Virus_Infection.yaml 73.8% 81.5% 31/42
Autoimmune_Hemolytic_Anemia.yaml 73.9% 78.4% 34/46
Charcot-Marie-Tooth_Disease.yaml 73.9% 77.2% 34/46
Psoriasis.yaml 73.9% 76.2% 139/188 1
Benign_Prostatic_Hyperplasia.yaml 74.1% 77.6% 60/81 1
MSI_High_Endometrial_Cancer.yaml 74.1% 75.9% 60/81 1
Metastatic_Renal_Cell_Carcinoma.yaml 74.1% 75.9% 63/85
STXBP1_Encephalopathy.yaml 74.1% 76.0% 109/147 2
Clear_Cell_Renal_Cell_Carcinoma.yaml 74.2% 77.8% 66/89 1
Dystroglycanopathy.yaml 74.2% 79.2% 198/267 2
Crouzon_Syndrome_with_Acanthosis_Nigricans.yaml 74.2% 79.0% 69/93
Netherton_Syndrome.yaml 74.3% 80.0% 153/206
Cystinosis.yaml 74.3% 83.4% 335/451
Aminoacylase_1_Deficiency.yaml 74.3% 76.7% 52/70
Alport_Syndrome.yaml 74.3% 74.9% 194/261 1
Granular_Cell_Tumor.yaml 74.4% 78.5% 58/78
Thanatophoric_Dysplasia_Type_1.yaml 74.4% 76.2% 163/219
Chronic_Myeloid_Leukemia.yaml 74.6% 76.1% 97/130 2
Chronic_Intestinal_Pseudoobstruction.yaml 74.6% 78.6% 50/67
Hyperlipidemia.yaml 74.6% 81.5% 150/201 1
Atopic_Dermatitis.yaml 74.7% 76.9% 127/170 2
PKP2_Cardiomyopathy.yaml 74.8% 78.6% 77/103
Bipolar_Disorder.yaml 75.0% 77.9% 81/108 1
Cutaneous_Squamous_Cell_Carcinoma.yaml 75.0% 78.4% 60/80
Familial_Partial_Lipodystrophy.yaml 75.0% 79.8% 96/128
Jeune_Asphyxiating_Thoracic_Dystrophy.yaml 75.0% 76.5% 123/164
Langerhans_Cell_Histiocytosis.yaml 75.0% 79.6% 60/80
Metastatic_Prostate_Cancer.yaml 75.0% 75.7% 66/88 1
Obstructive_Sleep_Apnea.yaml 75.0% 78.2% 75/100 1
Pneumococcal_Pneumonia.yaml 75.0% 80.3% 27/36
Autosomal_Recessive_Osteopetrosis.yaml 75.2% 78.5% 115/153 1
Baraitser-Winter_Cerebrofrontofacial_Syndrome.yaml 75.2% 78.5% 106/141 2
Small_Cell_Lung_Cancer.yaml 75.2% 78.6% 85/113
Osteogenesis_Imperfecta_Type_I.yaml 75.2% 79.8% 76/101
Influenza.yaml 75.3% 83.3% 64/85
Merkel_Cell_Carcinoma.yaml 75.3% 78.1% 64/85 1
Progressive_Myoclonus_Epilepsy.yaml 75.3% 78.3% 64/85 1
Osteopetrosis.yaml 75.3% 78.7% 113/150
Autoimmune_Encephalitis.yaml 75.3% 78.6% 55/73 1
NAGA_Deficiency_Type_3.yaml 75.4% 80.8% 52/69
Osteogenesis_Imperfecta_Type_II.yaml 75.4% 79.5% 92/122 1
Ellis-van_Creveld_Syndrome.yaml 75.4% 80.2% 89/118
Dravet_syndrome.yaml 75.4% 77.4% 258/342 2
Liver_Cirrhosis.yaml 75.5% 78.5% 83/110
SYN1-Related_Disorder.yaml 75.6% 80.0% 34/45
Mixed_Connective_Tissue_Disease.yaml 75.6% 80.1% 31/41
Obesity.yaml 75.7% 78.9% 84/111
Postpoliomyelitis_Syndrome.yaml 75.7% 85.5% 53/70
Psoriatic_Arthritis.yaml 75.7% 83.3% 53/70 1
Osteoarthritis.yaml 75.8% 78.3% 75/99 1
HER2_Positive_Breast_Cancer.yaml 75.8% 76.9% 72/95 2
Charcot-Marie-Tooth_Disease-Hearing_Loss-Intellectual_Disability_Syndrome.yaml 75.8% 80.1% 47/62
Delpire-McNeill_Syndrome.yaml 75.8% 80.8% 94/124
Hand-Foot-Genital_Syndrome.yaml 75.8% 77.5% 47/62
Primary_Ciliary_Dyskinesia.yaml 75.8% 80.7% 317/418
Dilated_Cardiomyopathy_1AA.yaml 75.8% 80.4% 179/236
Seasonal_Coronavirus_Infection.yaml 75.9% 83.3% 22/29
Sickle_Cell_Disease.yaml 75.9% 77.0% 151/199
Inherited_Ichthyosis.yaml 75.9% 79.2% 107/141
KCNB1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 75.9% 78.3% 107/141 2
Pertussis.yaml 75.9% 83.0% 63/83
Gorham-Stout_disease.yaml 75.9% 79.2% 41/54 1
PARK7-Related_Early-Onset_Parkinson_Disease.yaml 76.0% 75.8% 158/208 2
Neuroblastoma.yaml 76.0% 78.3% 73/96 1
Pouchitis.yaml 76.1% 81.7% 35/46
DSP_Cardiomyopathy.yaml 76.1% 79.2% 51/67 1
Temtamy_Preaxial_Brachydactyly_Syndrome.yaml 76.1% 80.5% 118/155 1
PCWH_syndrome.yaml 76.2% 80.1% 64/84 1
Viral_Encephalitis.yaml 76.2% 79.4% 96/126
Cockayne_Syndrome.yaml 76.2% 80.2% 231/303
Alpha_Thalassemia.yaml 76.3% 79.9% 106/139
Gallbladder_Cancer.yaml 76.3% 80.2% 106/139
Spinal_Muscular_Atrophy.yaml 76.3% 78.0% 193/253 3
Endometriosis.yaml 76.3% 78.7% 145/190 1
Parainfluenza_Virus_Infection.yaml 76.3% 82.6% 29/38
Testicular_Germ_Cell_Tumor.yaml 76.3% 78.5% 58/76
Aicardi_Syndrome.yaml 76.4% 79.7% 113/148
Metastatic_NSCLC.yaml 76.4% 77.9% 68/89 1
COX18-Related_COX_Deficiency.yaml 76.5% 80.7% 26/34
Campylobacteriosis.yaml 76.5% 83.1% 143/187
Neutral_Lipid_Storage_Myopathy.yaml 76.5% 81.6% 39/51
Polycystic_Ovary_Syndrome.yaml 76.5% 77.5% 166/217 1
Tooth_Agenesis.yaml 76.5% 79.4% 88/115
Ulcerative_Colitis.yaml 76.6% 78.4% 157/205 1
Oculopharyngodistal_Myopathy.yaml 76.6% 79.2% 72/94 1
FICUS_syndrome.yaml 76.6% 86.1% 59/77
Chromosome_18p_Deletion_Syndrome.yaml 76.7% 80.3% 89/116
Mucolipidosis_Type_II.yaml 76.8% 81.4% 73/95
Pulmonary_hypertension.yaml 76.9% 81.0% 93/121
Central_Areolar_Choroidal_Dystrophy.yaml 77.0% 81.1% 67/87
Chronic_Beryllium_Disease.yaml 77.0% 81.9% 94/122
Dorfman_Chanarin_Disease.yaml 77.0% 82.7% 47/61
Erdheim-Chester_Disease.yaml 77.0% 86.2% 47/61
Systemic_Mastocytosis.yaml 77.1% 80.6% 74/96
Bazex_Dupre_Christol_Syndrome.yaml 77.1% 78.7% 108/140
Cervical_Squamous_Cell_Carcinoma.yaml 77.2% 81.1% 44/57
Autism_Spectrum_Disorder.yaml 77.2% 80.5% 78/101
Autosomal_Dominant_Optic_Atrophy_Plus.yaml 77.3% 78.9% 68/88 1
Shprintzen-Goldberg_Syndrome.yaml 77.3% 83.6% 58/75
Campomelic_Dysplasia.yaml 77.4% 79.9% 106/137
Hutchinson-Gilford_Progeria_Syndrome.yaml 77.5% 79.7% 62/80
Gastroenteropancreatic_Neuroendocrine_Neoplasm.yaml 77.5% 81.3% 100/129
Congenital_Zika_Syndrome.yaml 77.5% 81.4% 69/89 2
IgG4-Related_Disease.yaml 77.6% 79.4% 114/147 1
CASQ2_CPVT.yaml 77.7% 79.1% 171/220 1
IgA_Nephropathy.yaml 78.0% 82.8% 135/173
Medulloblastoma.yaml 78.0% 83.3% 32/41
Warsaw_breakage_syndrome.yaml 78.0% 80.2% 64/82
Spondylometaphyseal_Dysplasia_Kozlowski_Type.yaml 78.1% 81.8% 121/155
Autoimmune_Polyendocrine_Syndrome_Type_1.yaml 78.1% 80.7% 114/146
COX4I2-Related_Pancreatic_Insufficiency-Anemia-Hyperostosis_Syndrome.yaml 78.2% 81.7% 43/55
KATNB1-related_Cortical_Malformation.yaml 78.3% 81.8% 90/115 2
GABRG2-Related_Epilepsy.yaml 78.3% 81.3% 101/129 1
GM1_Gangliosidosis_Type_1.yaml 78.3% 81.6% 141/180
Volumetric_Muscle_Loss.yaml 78.4% 81.6% 91/116 1
Coffin-Lowry_Syndrome.yaml 78.5% 79.6% 51/65
Epithelioid_Sarcoma.yaml 78.5% 81.2% 51/65 1
MSI_High_Colorectal_Cancer.yaml 78.5% 80.5% 84/107
PET100-Related_COX_Deficiency.yaml 78.5% 81.0% 84/107
Cranioectodermal_Dysplasia.yaml 78.5% 80.8% 128/163
Autoimmune_Gastritis.yaml 78.7% 80.7% 107/136
Distal_Hereditary_Motor_Neuronopathy_Autosomal_Recessive.yaml 78.7% 80.9% 74/94
GM1_Gangliosidosis_Type_3.yaml 78.7% 84.4% 37/47
Osteogenesis_Imperfecta_Type_III.yaml 78.7% 82.6% 100/127
Deficiency_of_Adenosine_Deaminase_2.yaml 78.8% 81.7% 89/113
Hereditary_Spherocytosis.yaml 78.8% 81.3% 160/203
Fontaine_Progeroid_Syndrome.yaml 78.9% 81.0% 254/322
Osteoglophonic_Dysplasia.yaml 78.9% 82.1% 101/128
EDAR_Hypohidrotic_Ectodermal_Dysplasia.yaml 78.9% 80.6% 116/147
Huntington_Disease.yaml 78.9% 79.5% 345/437 4
Sarcoma_Of_Cervix_Uteri.yaml 78.9% 83.1% 75/95
TUBA1A-related_Tubulinopathy.yaml 78.9% 81.2% 60/76 2
Stickler_Syndrome_Type_1.yaml 79.0% 80.9% 139/176 1
EDARADD_Hypohidrotic_Ectodermal_Dysplasia.yaml 79.0% 81.1% 79/100
Crohn_Disease.yaml 79.0% 79.3% 305/386 4
Autosomal_Recessive_Congenital_Ichthyosis.yaml 79.0% 82.6% 132/167
Silicosis.yaml 79.1% 83.1% 87/110
COVID-19.yaml 79.2% 80.6% 114/144 2
Generalized_Epilepsy_with_Febrile_Seizures_Plus.yaml 79.2% 80.2% 133/168 1
KIT_Mutant_Melanoma.yaml 79.2% 81.5% 76/96
Inherited_Aplastic_Anemia.yaml 79.2% 82.2% 118/149
Furunculosis.yaml 79.2% 87.0% 99/125
Type_I_Diabetes.yaml 79.2% 78.1% 244/308 7
Miller-Dieker_Lissencephaly_Syndrome.yaml 79.3% 81.6% 107/135 1
GNAS-related_pituitary_adenoma_3.yaml 79.3% 84.0% 65/82
Trachoma.yaml 79.3% 80.3% 23/29
TUBB_TUBB5-related_Microcephaly.yaml 79.3% 82.6% 73/92 2
Cervical_Adenocarcinoma.yaml 79.4% 82.5% 50/63
Osteogenesis_Imperfecta_Type_XXIII.yaml 79.4% 82.4% 50/63 1
FOXG1_Disorder.yaml 79.4% 82.1% 177/223
SHH_Holoprosencephaly_Spectrum.yaml 79.4% 82.1% 54/68
Snijders_Blok-Campeau_Syndrome.yaml 79.5% 82.1% 116/146
Muenke_Syndrome.yaml 79.5% 82.6% 62/78
Ankylosing_Spondylitis.yaml 79.5% 81.9% 132/166
Zimmermann_Laband_Syndrome.yaml 79.5% 82.0% 202/254
Neurofibroma.yaml 79.5% 83.2% 70/88
Boutonneuse_Fever.yaml 79.6% 81.2% 179/225
H3_K27_Altered_Diffuse_Midline_Glioma.yaml 79.6% 80.7% 74/93 1
X-linked_Hypohidrotic_Ectodermal_Dysplasia.yaml 79.6% 82.1% 113/142
Core_Binding_Factor_AML.yaml 79.6% 83.6% 78/98
Multiple_Sulfatase_Deficiency.yaml 79.6% 80.6% 195/245
Plague.yaml 79.6% 83.0% 82/103
DeSanto-Shinawi_Syndrome.yaml 79.6% 80.4% 43/54
SDHA-Related_Neurodegeneration_With_Ataxia_And_Optic_Atrophy.yaml 79.6% 81.6% 180/226
Cardiofaciocutaneous_Syndrome.yaml 79.7% 84.3% 55/69
COPA_Syndrome.yaml 79.7% 81.2% 181/227
pseudotumor_cerebri.yaml 79.8% 81.4% 87/109 1
Porphyria_due_to_ALA_Dehydratase_Deficiency.yaml 79.9% 85.7% 159/199
Duane_Radial_Ray_Syndrome.yaml 80.0% 81.9% 140/175
Dupuytrens_Contracture.yaml 80.0% 81.3% 68/85 1
Episodic_Ataxia.yaml 80.0% 82.9% 60/75 1
NPM1_Mutant_AML.yaml 80.0% 81.6% 72/90 1
Pitt-Hopkins_Syndrome.yaml 80.0% 83.0% 56/70
SCO1-Related_COX_Deficiency.yaml 80.0% 83.7% 32/40
TACO1-Related_COX_Deficiency.yaml 80.0% 83.4% 36/45
Twin_to_Twin_Transfusion_Syndrome.yaml 80.0% 81.3% 84/105
Esophageal_Atresia.yaml 80.1% 86.0% 149/186
Myoclonus_Dystonia_Syndrome.yaml 80.1% 81.8% 121/151
Neuromyelitis_Optica_Spectrum_Disorder_with_Anti-AQP4_Antibodies.yaml 80.1% 81.3% 117/146 1
ADPRS-Related_Stress-Induced_Neurodegeneration.yaml 80.1% 81.8% 230/287 1
Osteogenesis_Imperfecta_Type_XXI.yaml 80.3% 83.5% 61/76 1
Unverricht-Lundborg_Disease.yaml 80.3% 81.6% 122/152 2
Distal_Myopathy_6_Adult-Onset_Autosomal_Dominant.yaml 80.3% 82.1% 57/71 1
KCNA2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 80.3% 82.1% 110/137 2
Esophageal_Squamous_Cell_Carcinoma.yaml 80.3% 83.2% 106/132
Sclerosing_Cholangitis.yaml 80.4% 82.8% 131/163
BEST1_Bestrophinopathies.yaml 80.4% 83.3% 82/102
Dermoid_Cyst.yaml 80.4% 82.9% 82/102
Distal_Hereditary_Motor_Neuronopathy_Autosomal_Dominant.yaml 80.4% 82.1% 82/102
Atrial_Fibrillation.yaml 80.5% 81.8% 99/123 1
Cholangiocarcinoma.yaml 80.5% 83.1% 66/82
Stankiewicz_Isidor_syndrome.yaml 80.5% 82.7% 66/82
Niemann-Pick_Disease_Type_B.yaml 80.6% 84.8% 58/72
Loeys-Dietz_Syndrome.yaml 80.6% 82.2% 204/253
Behr_Syndrome.yaml 80.7% 82.8% 142/176
Cytomegalovirus_Retinitis.yaml 80.7% 84.7% 71/88
Small_Intestine_Cancer.yaml 80.7% 83.9% 92/114
angioosteohypertrophic_syndrome.yaml 80.7% 83.6% 46/57
NDE1-related_Microcephaly_Lissencephaly.yaml 80.7% 83.9% 88/109 2
Inherited_Retinal_Dystrophy.yaml 80.8% 84.0% 80/99 1
Minimal_Change_Disease.yaml 80.8% 82.6% 156/193
Oroya_Fever.yaml 80.8% 82.5% 97/120
COX20-Related_COX_Deficiency.yaml 80.9% 83.7% 38/47
Metastatic_Breast_Carcinoma.yaml 80.9% 82.3% 76/94 1
Lenz-Majewski_hyperostotic_dwarfism.yaml 80.9% 86.5% 110/136
Chromosome_18q_Deletion_Syndrome.yaml 80.9% 83.8% 89/110
COXFA4-Related_COX_Deficiency.yaml 81.0% 83.2% 34/42
Multiple_Mitochondrial_Dysfunctions_Syndrome_9B.yaml 81.0% 81.9% 204/252
HFM1-related_gametogenic_failure.yaml 81.0% 83.7% 47/58
Myocardial_Infarction.yaml 81.1% 85.4% 77/95
Peeling_Skin_Syndrome.yaml 81.1% 83.4% 107/132
Myhre_Syndrome.yaml 81.1% 83.1% 137/169 1
Centronuclear_Myopathy.yaml 81.2% 84.1% 138/170
Orofaciodigital_Syndrome_Type_I.yaml 81.2% 83.4% 108/133
Glaucoma.yaml 81.2% 83.2% 78/96 1
Multiple_Epiphyseal_Dysplasia_Al-Gazali_Type.yaml 81.2% 84.0% 39/48
Polymyositis.yaml 81.2% 83.9% 78/96 1
SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml 81.2% 85.1% 26/32
Branchiooculofacial_Syndrome.yaml 81.3% 83.4% 113/139
Melanoma_in_Congenital_Melanocytic_Nevus.yaml 81.3% 81.5% 113/139 2
Wiedemann-Steiner_Syndrome.yaml 81.3% 83.9% 100/123
Ebola_Virus_Disease_EVD.yaml 81.3% 80.4% 135/166 2
Focal_Dermal_Hypoplasia.yaml 81.3% 83.9% 122/150
Postpartum_Depression.yaml 81.3% 83.6% 109/134
Human_African_Trypanosomiasis.yaml 81.4% 80.6% 48/59
Lyme_Disease.yaml 81.4% 82.9% 166/204
Reelin_Pathway_Lissencephaly.yaml 81.4% 83.7% 83/102 1
Scurvy.yaml 81.4% 81.5% 35/43 1
VPS4A-Related_Neurodevelopmental_Syndrome.yaml 81.4% 84.6% 175/215
VAMP2-Related_Disorder.yaml 81.4% 84.6% 57/70
MHC_Class_II_Deficiency.yaml 81.4% 83.5% 180/221
CRX_Related_Retinopathy.yaml 81.5% 83.9% 66/81
Hand_Foot_and_Mouth_Disease.yaml 81.5% 88.0% 172/211
Gout.yaml 81.5% 83.5% 106/130
Classic_Familial_Adenomatous_Polyposis.yaml 81.6% 88.1% 208/255
COA8-Related_COX_Deficiency.yaml 81.6% 83.8% 62/76
Hereditary_von_Willebrand_Disease.yaml 81.6% 85.8% 31/38
Kearns-Sayre_Syndrome.yaml 81.6% 83.5% 155/190
Hereditary_Elliptocytosis.yaml 81.6% 83.0% 164/201
CPT1C-Related_Hereditary_Spastic_Paraplegia.yaml 81.6% 85.7% 40/49
Castleman_Disease.yaml 81.6% 84.8% 80/98 1
KRT85_Ectodermal_Dysplasia.yaml 81.6% 84.4% 40/49
Tay-Sachs_Disease_AB_Variant.yaml 81.7% 85.6% 49/60
Dystrophic_Epidermolysis_Bullosa.yaml 81.7% 82.8% 214/262
Bethlem_Myopathy.yaml 81.7% 82.9% 272/333
Peripartum_Cardiomyopathy.yaml 81.7% 85.1% 67/82
Alagille_syndrome.yaml 81.7% 83.7% 152/186
Aland_Island_Eye_Disease.yaml 81.7% 83.8% 76/93
Idiopathic_Pulmonary_Fibrosis.yaml 81.8% 85.1% 130/159
Gorlin_Syndrome.yaml 81.8% 82.8% 278/340 1
COX10-Related_COX_Deficiency.yaml 81.8% 85.4% 27/33
COX14-Related_COX_Deficiency.yaml 81.8% 84.4% 27/33
EBV_Associated_Gastric_Cancer.yaml 81.8% 84.1% 81/99
Focal_Articular_Cartilage_Defect_of_the_Knee.yaml 81.8% 85.2% 54/66
UNC13A_NDD_with_Seizures_and_Movement_Disorder.yaml 81.8% 82.8% 108/132 2
Angelman_Syndrome.yaml 81.9% 83.3% 397/485
BRAF_V600E_Mutant_Colorectal_Cancer.yaml 81.9% 81.4% 158/193 1
Medullary_Thyroid_Carcinoma.yaml 81.9% 84.9% 77/94 1
Inclusion_Body_Myopathy_with_Paget_Disease_of_Bone_and_Frontotemporal_Dementia.yaml 82.0% 83.8% 168/205
Central_Precocious_Puberty.yaml 82.0% 84.5% 41/50
Combined_Saposin_Deficiency.yaml 82.0% 85.0% 41/50
Krabbe_Disease_Due_To_Saposin_A_Deficiency.yaml 82.0% 86.4% 41/50
Testicular_Seminoma.yaml 82.0% 85.0% 82/100
Adenoid_Cystic_Carcinoma.yaml 82.0% 84.5% 137/167
Infantile_Spasms.yaml 82.0% 83.0% 137/167 1
Global_Developmental_Delay_Progressive_Ataxia_and_Elevated_Glutamine.yaml 82.1% 83.9% 64/78
Asbestosis.yaml 82.1% 85.5% 87/106
Giant_Cell_Hepatitis_With_Autoimmune_Hemolytic_Anemia.yaml 82.1% 84.7% 87/106
EDN3_EDNRB_Waardenburg_Shah.yaml 82.1% 84.9% 55/67
Saethre-Chotzen_Syndrome.yaml 82.1% 85.3% 55/67
Ullrich_Congenital_Muscular_Dystrophy.yaml 82.1% 83.6% 220/268
Wiskott_Aldrich_Syndrome.yaml 82.1% 84.3% 165/201
Leber_Congenital_Amaurosis_10.yaml 82.1% 86.2% 69/84
Schwannomatosis.yaml 82.2% 84.2% 83/101 1
Chemotherapy_Induced_Diarrhea.yaml 82.2% 83.1% 157/191
Primary_Carnitine_Deficiency.yaml 82.2% 83.6% 157/191
Glioma.yaml 82.2% 85.4% 97/118
COX5A-Related_COX_Deficiency.yaml 82.2% 84.7% 37/45
Tatton-Brown-Rahman_overgrowth_syndrome.yaml 82.2% 84.7% 37/45
Sarcoidosis.yaml 82.2% 83.3% 324/394 2
CLOVES_Syndrome.yaml 82.3% 83.9% 190/231
Siderius_Type_X-Linked_Intellectual_Disability.yaml 82.3% 83.5% 218/265
Moyamoya_Disease.yaml 82.3% 86.0% 65/79 1
Tuberous_Sclerosis_Complex.yaml 82.3% 83.9% 377/458
Ovarian_High-Grade_Serous_Carcinoma.yaml 82.3% 83.2% 135/164 2
Short-Rib_Polydactyly_Syndrome.yaml 82.4% 83.8% 112/136
Inborn_Disorder_of_Cobalamin_Metabolism_and_Transport.yaml 82.4% 85.5% 89/108
Van_Buchem_Disease.yaml 82.4% 83.1% 89/108
Joubert_syndrome.yaml 82.4% 83.6% 530/643
NF1_Microdeletion_Syndrome.yaml 82.4% 84.8% 61/74
Pelizaeus_Merzbacher_Disease.yaml 82.4% 84.8% 183/222
Brachyolmia.yaml 82.5% 84.1% 188/228
Alzheimer_Disease.yaml 82.5% 79.9% 409/496 6
Solitary_Fibrous_Tumor.yaml 82.5% 85.2% 66/80
DECR_Deficiency.yaml 82.6% 84.9% 123/149
DOORS_Syndrome.yaml 82.6% 84.3% 90/109
KBG_Syndrome.yaml 82.6% 85.0% 128/155
Neuromyelitis_Optica.yaml 82.6% 82.0% 128/155 5
Fallopian_Tube_Cancer.yaml 82.6% 85.8% 57/69
Tay-Sachs_Disease.yaml 82.6% 84.2% 200/242
Alveolar_Capillary_Dysplasia_with_Misalignment_of_Pulmonary_Veins.yaml 82.7% 84.2% 81/98
IREB2-Related_Neurodegeneration.yaml 82.7% 83.4% 248/300 1
Heart_Defect_Tongue_Hamartoma_Polysyndactyly_Syndrome.yaml 82.7% 85.5% 43/52
Mucolipidosis_Type_IV.yaml 82.7% 86.0% 43/52
YWHAG_Syndrome.yaml 82.7% 84.5% 134/162
Smith-Magenis_Syndrome.yaml 82.7% 85.3% 139/168
HROB-related_gametogenic_failure.yaml 82.8% 84.5% 72/87
Retinal_Arterial_Tortuosity.yaml 82.8% 84.2% 72/87
Peroxisome_Biogenesis_Disorder.yaml 82.8% 82.6% 226/273 1
Advanced_Sleep_Phase_Syndrome.yaml 82.8% 83.5% 231/279 2
Severe_Combined_Immunodeficiency.yaml 82.8% 85.2% 130/157
Long_QT_Syndrome.yaml 82.9% 84.0% 232/280 4
Papillary_Thyroid_Carcinoma.yaml 82.9% 85.4% 58/70
Leukoencephalopathy_With_Vanishing_White_Matter.yaml 82.9% 85.6% 92/111
Geleophysic_Dysplasia.yaml 82.9% 84.7% 175/211
Noise_Induced_Hearing_Loss.yaml 82.9% 84.6% 107/129
CYCS-Related_Thrombocytopenia.yaml 83.0% 85.8% 39/47
capillary_leak_syndrome.yaml 83.0% 85.9% 39/47
Fibrous_Dysplasia.yaml 83.0% 84.9% 200/241
Dacryocystitis-Osteopoikilosis_Syndrome.yaml 83.0% 85.7% 83/100
Williams_Syndrome.yaml 83.0% 85.7% 137/165
Hypophosphatasia.yaml 83.1% 85.5% 152/183
Hereditary_Breast_and_Ovarian_Cancer_Syndrome.yaml 83.1% 83.2% 108/130 1
Hypochondroplasia.yaml 83.1% 84.9% 162/195
Holt-Oram_Syndrome.yaml 83.1% 84.7% 118/142 2
Charcot-Marie-Tooth_Disease_X-linked_Recessive_4.yaml 83.1% 85.1% 123/148
DYRK1A_Syndrome.yaml 83.1% 85.2% 133/160
Cornelia_de_Lange_Syndrome.yaml 83.1% 84.7% 202/243
Myotonic_Dystrophy_Type_1.yaml 83.1% 85.0% 138/166 1
Testicular_Sex_Cord_Stromal_Neoplasm.yaml 83.1% 85.8% 69/83 1
Hypermobile_Ehlers-Danlos_Syndrome.yaml 83.2% 83.3% 153/184 2
Andersen-Tawil_Syndrome.yaml 83.2% 84.5% 232/279
Elsahy-Waters_Syndrome.yaml 83.2% 86.3% 79/95
Glucose-6-Phosphate_Dehydrogenase_G6PD_Deficiency.yaml 83.2% 84.8% 129/155
Congenital_Dyserythropoietic_Anemia.yaml 83.2% 85.2% 164/197
Avoidant_Restrictive_Food_Intake_Disorder.yaml 83.3% 84.8% 75/90
Dyskeratosis_Congenita.yaml 83.3% 85.4% 265/318
FASTKD5-Related_COX_Deficiency.yaml 83.3% 85.4% 35/42
Familial_Chylomicronemia_Syndrome.yaml 83.3% 85.3% 85/102
Kniest_Dysplasia.yaml 83.3% 84.4% 135/162 1
Paroxysmal_Dyskinesia.yaml 83.3% 84.8% 280/336 2
Pentanucleotide_Repeat_Familial_Adult_Myoclonus_Epilepsy.yaml 83.3% 84.1% 165/198 1
Primary_Tonsillar_Lymphoma.yaml 83.3% 83.6% 140/168 1
Renal_Agenesis.yaml 83.3% 85.6% 70/84
SURF1-Related_Leigh_Syndrome.yaml 83.3% 85.5% 70/84 2
THUMPD1-Related_Neurodevelopmental_Disorder.yaml 83.3% 85.4% 55/66
VEXAS_Syndrome.yaml 83.3% 85.6% 100/120
Guanidinoacetate_Methyltransferase_Deficiency.yaml 83.4% 84.6% 181/217
Oculodentodigital_Dysplasia.yaml 83.4% 85.5% 151/181
Microscopic_Polyangiitis.yaml 83.4% 85.7% 136/163
CTCF-related_Neurodevelopmental_Disorder.yaml 83.4% 86.0% 131/157
Metatropic_Dysplasia.yaml 83.5% 86.1% 111/133
Rheumatoid_Arthritis.yaml 83.5% 83.6% 333/399 4
TUBB2A_TUBB2B-related_Cortical_Malformation.yaml 83.5% 85.4% 91/109 2
Pantothenate_Kinase-Associated_Neurodegeneration.yaml 83.5% 85.3% 86/103
Rett_Syndrome.yaml 83.5% 85.1% 172/206
TUBB3-related_Tubulinopathy.yaml 83.5% 85.9% 81/97 2
Monkeypox.yaml 83.5% 83.2% 152/182 2
Scapuloperoneal_Spinal_Muscular_Atrophy.yaml 83.5% 86.2% 66/79
Hartsfield_Syndrome.yaml 83.6% 85.4% 61/73
PRR12-Related_Neuroocular_Syndrome.yaml 83.6% 85.4% 234/280
Taurodontism.yaml 83.6% 89.3% 117/140
Weaver_Syndrome.yaml 83.6% 85.3% 107/128 1
Von_Hippel-Lindau_Disease.yaml 83.6% 84.4% 97/116
Hydrolethalus_Syndrome_2.yaml 83.6% 86.0% 46/55
Malan_Syndrome.yaml 83.6% 86.0% 92/110
Subacute_Inflammatory_Demyelinating_Polyneuropathy.yaml 83.6% 85.8% 46/55 1
Stromme_Syndrome.yaml 83.7% 84.9% 174/208
SNIP1-Related_Neurodevelopmental_Disorder.yaml 83.7% 85.1% 405/484
NRAS_Mutant_Melanoma.yaml 83.7% 85.8% 77/92 1
Hereditary_Angioedema.yaml 83.7% 84.6% 216/258
Pyruvate_Kinase_Deficiency.yaml 83.7% 85.8% 72/86
Asthma.yaml 83.8% 83.2% 356/425 4
COX6B1-Related_COX_Deficiency.yaml 83.8% 87.2% 31/37
PTEN_Hamartoma_Tumor_Syndrome.yaml 83.8% 85.4% 124/148
Bladder_Urothelial_Carcinoma.yaml 83.8% 86.6% 83/99
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
Thanatophoric_Dysplasia_Type_2.yaml 83.9% 84.5% 177/211
Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml 83.9% 86.5% 73/87 1
Infantile_Hypercalcemia.yaml 83.9% 88.2% 219/261
Dermatofibrosarcoma_Protuberans.yaml 83.9% 84.7% 47/56 2
Sjogren-Larsson_Syndrome.yaml 84.0% 85.8% 136/162
Madras_Motor_Neuron_Disease.yaml 84.0% 87.1% 42/50
SOX10_Neurocristopathy_Spectrum.yaml 84.0% 86.7% 63/75
Skin_Fragility_Woolly_Hair_Syndrome.yaml 84.0% 87.2% 42/50
Boucher-Neuhauser_Syndrome.yaml 84.0% 84.7% 142/169 1
Autosomal_Dominant_Sensory_Ataxia_1.yaml 84.1% 85.2% 195/232
CLCN2-Related_Leukoencephalopathy.yaml 84.1% 86.2% 248/295
Bejel.yaml 84.1% 86.0% 74/88
Bulimia_Nervosa.yaml 84.1% 85.9% 74/88
ZTTK_syndrome.yaml 84.1% 86.6% 37/44
Fibrodysplasia_Ossificans_Progressiva.yaml 84.1% 88.2% 122/145
Mitochondrial_Complex_II_Deficiency_Nuclear_Type_1.yaml 84.1% 85.8% 69/82 1
Spondyloepimetaphyseal_Dysplasia_Strudwick_Type.yaml 84.1% 85.3% 138/164 1
Temple-Baraitser_Syndrome.yaml 84.1% 86.7% 138/164
Systemic_Sclerosis.yaml 84.2% 87.4% 85/101
Hemophilia_A.yaml 84.2% 85.2% 101/120
Tooth_and_Nail_Syndrome.yaml 84.2% 85.3% 64/76 1
Kleefstra_Syndrome.yaml 84.3% 86.8% 91/108
NR5A1_Related_Sex_Development_Disorder.yaml 84.3% 86.6% 91/108
Paranasal_Sinus_Squamous_Cell_Carcinoma.yaml 84.3% 86.6% 75/89
Hypereosinophilic_Syndrome.yaml 84.3% 87.1% 129/153
Sinoatrial_Block.yaml 84.3% 87.6% 43/51
X-linked_Syndromic_Intellectual_Disability_Turner_Type.yaml 84.3% 86.8% 43/51
Neurofibromatosis_Type_1.yaml 84.3% 86.3% 156/185
UNC13A_Congenital_NDD_with_Epilepsy.yaml 84.4% 84.6% 151/179 2
Mowat-Wilson_syndrome.yaml 84.4% 86.8% 65/77
Small_Intestinal_Bacterial_Overgrowth.yaml 84.4% 86.7% 65/77
Nestor-Guillermo_progeria_syndrome.yaml 84.4% 86.7% 38/45
Triphalangeal_Thumb_Polysyndactyly.yaml 84.4% 86.0% 38/45
Congenital_Adrenal_Hyperplasia.yaml 84.5% 86.6% 125/148
Labyrinthitis.yaml 84.5% 86.9% 185/219 1
Niemann_Pick_Disease_Type_C.yaml 84.5% 86.0% 207/245
2q37_Microdeletion_Syndrome.yaml 84.5% 85.7% 120/142
Rocky_Mountain_Spotted_Fever.yaml 84.5% 85.3% 262/310
Rubinstein-Taybi_Syndrome.yaml 84.5% 86.2% 131/155
Ovarian_Mucinous_Carcinoma.yaml 84.5% 87.7% 71/84
Rhabdoid_Tumor.yaml 84.5% 87.3% 71/84
ER_Positive_Breast_Cancer.yaml 84.5% 86.6% 82/97 1
Hashimotos_Thyroiditis.yaml 84.6% 86.8% 126/149
Fanconi_Anemia.yaml 84.6% 86.0% 932/1102
COX6A2-Related_COX_Deficiency.yaml 84.6% 87.3% 33/39
Congenital_Hypofibrinogenemia.yaml 84.6% 87.0% 44/52
Juvenile_Myelomonocytic_Leukemia.yaml 84.6% 85.6% 99/117
Lipoid_Proteinosis.yaml 84.6% 86.5% 110/130
Proteus_syndrome.yaml 84.6% 85.9% 187/221
Urticaria.yaml 84.6% 92.3% 11/13
GLUT1_Deficiency_Syndrome.yaml 84.7% 85.0% 116/137 3
Mixed_Neuronal-Glial_Tumor.yaml 84.7% 87.3% 72/85
Pica.yaml 84.7% 86.1% 72/85
Congenital_Sialidosis_Type_2.yaml 84.8% 87.5% 39/46
EAST_Syndrome.yaml 84.8% 86.4% 78/92 1
Leber_Congenital_Amaurosis_with_Early-Onset_Deafness.yaml 84.8% 87.9% 39/46
Synovial_Sarcoma.yaml 84.8% 85.3% 78/92 1
USP8-related_pituitary_adenoma_4.yaml 84.8% 88.3% 78/92
MED13_Syndrome.yaml 84.8% 85.3% 290/342 1
Metastatic_Colorectal_Cancer.yaml 84.8% 86.1% 67/79
Craniofacial_Microsomia.yaml 84.8% 86.5% 218/257
Metastatic_Pancreatic_Adenocarcinoma.yaml 84.8% 84.9% 123/145
CINCA_Syndrome.yaml 84.8% 86.6% 263/310 2
Cogan_Syndrome.yaml 84.8% 85.9% 168/198
Omodysplasia.yaml 84.8% 85.9% 168/198
Lymphangioleiomyomatosis.yaml 84.9% 86.8% 90/106
Primrose_Syndrome.yaml 84.9% 86.7% 152/179
Kilquist_Syndrome.yaml 84.9% 85.3% 107/126
Rosai-Dorfman_Disease.yaml 85.0% 87.5% 113/133
GPR101-related_pituitary_adenoma_2.yaml 85.0% 88.1% 85/100
Mediator_Complex_Neurodevelopmental_Disorder.yaml 85.0% 85.5% 289/340 1
G6PC3_Deficiency.yaml 85.0% 85.5% 182/214 3
Autosomal_Dominant_Progressive_External_Ophthalmoplegia.yaml 85.1% 86.1% 313/368
Embryonal_Rhabdomyosarcoma.yaml 85.1% 88.0% 57/67
Wissler_syndrome.yaml 85.1% 87.4% 160/188
POLR-Related_Leukodystrophy.yaml 85.1% 86.5% 263/309
Ritscher-Schinzel_Syndrome.yaml 85.1% 87.2% 143/168
FLVCR1-Related_Retinopathy.yaml 85.1% 88.0% 63/74
Malignant_Atrophic_Papulosis.yaml 85.1% 86.8% 63/74
Epilepsy.yaml 85.2% 86.6% 281/330
Behcets_Disease.yaml 85.2% 87.7% 109/128
Prader-Willi_Syndrome.yaml 85.2% 86.2% 178/209
Basal_Cell_Carcinoma.yaml 85.2% 86.3% 138/162
HAO1-Related_Glycolate_Oxidase_Deficiency.yaml 85.2% 89.0% 23/27
Peutz_Jeghers_polyp.yaml 85.2% 88.2% 138/162
Tall_Stature-Intellectual_Disability-Renal_Anomalies_Syndrome.yaml 85.2% 87.1% 69/81
erythromelalgia.yaml 85.2% 87.1% 46/54
CACNA1E-Related_Developmental_and_Epileptic_Encephalopathy.yaml 85.2% 86.9% 98/115
Celiac_Disease.yaml 85.2% 86.9% 150/176
Postural_Orthostatic_Tachycardia_Syndrome.yaml 85.3% 87.5% 133/156
Nevus_of_Ota.yaml 85.3% 87.8% 58/68
PET117-Related_COX_Deficiency.yaml 85.3% 87.8% 29/34
Pneumocystis_Pneumonia.yaml 85.3% 89.2% 29/34
SLC26A1-Related_Oxalate_Transporter_Deficiency.yaml 85.3% 89.0% 29/34
FLT3_Mutant_AML.yaml 85.3% 87.5% 93/109
Mixed_Phenotype_Acute_Leukemia.yaml 85.3% 86.8% 314/368
Auriculocondylar_Syndrome.yaml 85.3% 85.6% 128/150 1
SYT1_Baker-Gordon_Syndrome.yaml 85.3% 87.8% 64/75
Ulnar-Mammary_Syndrome.yaml 85.3% 86.4% 192/225
Enhanced_S-Cone_Syndrome.yaml 85.4% 89.5% 70/82
RCBTB1-Related_Retinopathy.yaml 85.4% 88.3% 70/82
Triglyceride_Storage_Disease_Type_2.yaml 85.4% 90.2% 35/41
Ehlers-Danlos_Syndrome_COL5A1-related.yaml 85.4% 86.4% 111/130
Ameloblastoma.yaml 85.4% 87.7% 76/89
Spondylocarpotarsal_Synostosis_Syndrome.yaml 85.4% 87.5% 129/151
X-Linked_Hypophosphatemia.yaml 85.4% 88.0% 88/103
Osteogenesis_Imperfecta_Type_VII.yaml 85.5% 86.1% 94/110
Classic_Hodgkin_Lymphoma.yaml 85.5% 87.9% 100/117
Kanzaki_Disease.yaml 85.5% 88.0% 53/62
Pearson_Syndrome.yaml 85.5% 87.4% 53/62
Spinal_Muscular_Atrophy_Progressive_Myoclonic_Epilepsy.yaml 85.5% 90.8% 53/62
Spasticity-Ataxia-Gait_Anomalies_Syndrome.yaml 85.5% 88.4% 59/69
Leigh_Syndrome.yaml 85.5% 87.8% 130/152
Chagas_Disease.yaml 85.5% 86.4% 136/159 1
Hypoplasminogenemia.yaml 85.6% 86.8% 77/90 1
ADCA-DN.yaml 85.6% 86.2% 261/305
Aromatic_L_Amino_Acid_Decarboxylase_Deficiency.yaml 85.6% 86.4% 261/305
Clouston_Syndrome.yaml 85.6% 87.0% 89/104
Viral_Hemorrhagic_Fever.yaml 85.6% 87.7% 101/118
15q11q13_Microduplication_Syndrome.yaml 85.6% 86.9% 208/243
Ehlers-Danlos_Syndrome.yaml 85.6% 84.9% 214/250 1
Mandibulofacial_Dysostosis_with_Microcephaly.yaml 85.6% 86.9% 113/132
Ogden_syndrome.yaml 85.6% 87.2% 125/146
Kawasaki_Disease.yaml 85.6% 86.6% 304/355 1
Abdominal_Aortic_Aneurysm.yaml 85.7% 88.6% 54/63
Familial_Hyperaldosteronism_Type_I.yaml 85.7% 86.2% 120/140
Methanol_Poisoning.yaml 85.7% 87.8% 126/147
Pemphigus_Erythematosus.yaml 85.7% 87.6% 42/49
Periventricular_Nodular_Heterotopia.yaml 85.7% 87.6% 144/168 1
RAB33B-Related_Smith-McCort_Dysplasia_2.yaml 85.7% 88.0% 54/63
Renal_Cell_Carcinoma.yaml 85.7% 85.4% 48/56 2
SLC26A6-Related_Hyperoxaluria_and_Nephrolithiasis.yaml 85.7% 88.7% 36/42
aceruloplasminemia.yaml 85.7% 87.0% 90/105
Marfan_Syndrome.yaml 85.8% 85.4% 235/274 2
RET_Rearranged_NSCLC.yaml 85.8% 85.3% 163/190 1
EML1_Ribbon_Heterotopia.yaml 85.8% 87.3% 103/120 2
Thymic_Neuroendocrine_Carcinoma.yaml 85.8% 87.0% 285/332
Esophageal_Carcinoma.yaml 85.8% 87.4% 91/106
Allan-Herndon-Dudley_Syndrome.yaml 85.9% 86.4% 261/304
Opsismodysplasia.yaml 85.9% 87.3% 170/198
Cardiomyopathy-Hypotonia-Lactic_Acidosis_Syndrome.yaml 85.9% 86.7% 164/191 1
Intellectual_Disability_Anterior_Maxillary_Protrusion_and_Strabismus.yaml 85.9% 87.9% 146/170
GNPTG-Mucolipidosis.yaml 85.9% 89.5% 67/78
Glutaryl-CoA_Dehydrogenase_Deficiency.yaml 85.9% 89.2% 189/220
Aicardi_Goutieres_Syndrome.yaml 85.9% 86.6% 250/291
Reversible_Infantile_Cytochrome_c_Oxidase_Deficiency.yaml 85.9% 87.6% 61/71
X-Linked_Infantile_Spinal_Muscular_Atrophy.yaml 85.9% 87.8% 61/71
Chronic_Mucocutaneous_Candidiasis.yaml 85.9% 87.1% 336/391
Thymic_Carcinoma.yaml 86.0% 88.4% 104/121
Central_Serous_Chorioretinopathy.yaml 86.0% 88.4% 98/114
Dementia_with_Lewy_Bodies.yaml 86.0% 88.4% 43/50
Diastrophic_Dysplasia.yaml 86.0% 87.3% 172/200
Gastric_Adenocarcinoma.yaml 86.0% 86.8% 314/365
Klippel-Feil_Syndrome.yaml 86.0% 89.6% 37/43
Usher_Syndrome.yaml 86.0% 87.9% 111/129
Severe_Neonatal-Onset_Encephalopathy_With_Microcephaly.yaml 86.1% 86.5% 401/466
Chromosome_2q32-q33_Deletion_Syndrome.yaml 86.1% 87.8% 173/201
Nephronophthisis.yaml 86.1% 86.3% 167/194 1
MSTO1-Related_Mitochondrial_Myopathy.yaml 86.1% 87.1% 266/309 2
Parkinsons_Disease.yaml 86.1% 86.4% 359/417 2
Complex_Hereditary_Spastic_Paraplegia.yaml 86.1% 87.4% 124/144 1
Familial_Thoracic_Aortic_Aneurysm_and_Aortic_Dissection.yaml 86.1% 87.6% 124/144 1
Keratoconus.yaml 86.1% 86.9% 186/216 1
Urea_Cycle_Disorder.yaml 86.1% 86.6% 217/252 1
Cori_Forbes_Disease.yaml 86.1% 87.7% 118/137
Choroideremia-Deafness-Obesity_Syndrome.yaml 86.1% 87.8% 87/101
Vascular_Ehlers-Danlos_Syndrome.yaml 86.1% 87.4% 87/101
Floating-Harbor_syndrome.yaml 86.2% 88.7% 56/65
Alcoholic_Liver_Disease.yaml 86.2% 85.4% 187/217 2
Familial_Nonmedullary_Thyroid_Carcinoma.yaml 86.2% 86.9% 331/384
COX15-Related_COX_Deficiency.yaml 86.2% 89.9% 25/29
PIK3CA_Mutant_Breast_Cancer.yaml 86.2% 90.2% 50/58
RARB-related_syndromic_microphthalmia.yaml 86.2% 88.1% 169/196
Huntington_Disease-like_2.yaml 86.2% 87.0% 69/80
KRT1_Keratinopathies.yaml 86.2% 87.7% 69/80
COX16-Related_COX_Deficiency.yaml 86.3% 88.4% 44/51
Central_Core_Myopathy.yaml 86.3% 87.9% 176/204
LRBA_Deficiency.yaml 86.3% 88.8% 88/102
Osteogenesis_Imperfecta_Type_V.yaml 86.3% 88.6% 88/102
Wieacker_Wolff_Syndrome.yaml 86.3% 87.3% 145/168
Intracranial_Berry_Aneurysm.yaml 86.3% 89.4% 82/95
Canavan_Disease.yaml 86.3% 87.4% 183/212
Fragile_X_Syndrome.yaml 86.4% 87.9% 190/220
Panuveitis.yaml 86.4% 87.6% 76/88 1
Thyroid_Follicular_Carcinoma.yaml 86.4% 89.4% 76/88
Charcot-Marie-Tooth_Disease_Type_2.yaml 86.4% 88.3% 165/191
Odonto-Onycho-Dermal_Dysplasia.yaml 86.4% 88.2% 127/147
Jet_Lag.yaml 86.4% 88.0% 70/81
Paratyphoid_Fever.yaml 86.4% 88.4% 70/81
Myasthenia_Gravis.yaml 86.4% 88.0% 191/221
Cholesteryl_Ester_Storage_Disease.yaml 86.4% 89.1% 51/59
Ovarian_Endometrioid_Carcinoma.yaml 86.5% 88.2% 83/96
Coronary_Artery_Congenital_Malformation.yaml 86.5% 89.1% 96/111
Dental_Caries.yaml 86.5% 89.1% 64/74
Hemophilia_B.yaml 86.5% 90.4% 32/37
GUCY2D-Related_Retinopathy.yaml 86.5% 89.4% 77/89
Succinic_Semialdehyde_Dehydrogenase_Deficiency.yaml 86.5% 90.9% 193/223
Oculocerebrodental_Syndrome.yaml 86.6% 89.2% 58/67
Multicentric_Castleman_Disease.yaml 86.6% 88.0% 84/97
Familial_Congenital_Mirror_Movements.yaml 86.6% 88.4% 97/112
COX8A-Related_COX_Deficiency.yaml 86.7% 89.9% 26/30
CTLA4_Haploinsufficiency.yaml 86.7% 88.4% 65/75
Dyslexia.yaml 86.7% 89.3% 52/60
Hereditary_Hyperekplexia.yaml 86.7% 88.1% 156/180
Long-Chain_3-Hydroxyacyl-CoA_Dehydrogenase_Deficiency.yaml 86.7% 88.0% 182/210
Multisystem_Inflammatory_Syndrome_in_Children_MIS-C.yaml 86.7% 87.1% 195/225 1
Onchocerciasis.yaml 86.7% 87.7% 65/75
Spinal_Muscular_Atrophy_with_Respiratory_Distress_Type_1.yaml 86.7% 88.8% 78/90
Hajdu-Cheney_Syndrome.yaml 86.7% 88.6% 85/98
IGF1_Deficiency.yaml 86.7% 88.6% 72/83
Alexander_Disease.yaml 86.8% 87.4% 203/234
Bartter_Syndrome.yaml 86.8% 87.4% 262/302
Heritable_Pulmonary_Arterial_Hypertension.yaml 86.8% 87.5% 177/204 3
Neuronal_Ceroid_Lipofuscinosis_1.yaml 86.8% 89.4% 59/68
Atrial_Standstill.yaml 86.8% 88.1% 164/189
Congestive_Splenomegaly.yaml 86.8% 90.3% 79/91
Kummell_Disease.yaml 86.8% 87.9% 112/129 1
Exstrophy-Epispadias_Complex.yaml 86.8% 91.0% 99/114
Paroxysmal_Familial_Ventricular_Fibrillation.yaml 86.8% 90.7% 66/76
Visceral_Heterotaxy.yaml 86.8% 90.2% 66/76
Green_Tobacco_Sickness.yaml 86.9% 88.1% 119/137
Short_QT_Syndrome.yaml 86.9% 88.4% 119/137
Esophageal_Adenocarcinoma.yaml 86.9% 89.9% 106/122
MALT_Lymphoma.yaml 86.9% 89.8% 53/61
Orofaciodigital_Syndrome_17.yaml 86.9% 89.6% 53/61
Tularemia.yaml 86.9% 89.2% 53/61
Weill-Marchesani_Syndrome.yaml 86.9% 88.3% 159/183
HCN1-Related_Developmental_and_Epileptic_Encephalopathy.yaml 86.9% 89.6% 73/84
Prostate_Adenocarcinoma.yaml 86.9% 88.9% 73/84 1
Narcolepsy-Cataplexy_Syndrome.yaml 87.0% 88.5% 80/92
Dieulafoy_Lesion.yaml 87.0% 88.3% 47/54
Polycythemia_Vera.yaml 87.0% 88.4% 141/162 1
Alstrom_Syndrome.yaml 87.1% 88.6% 101/116 1
Cervical_Artery_Dissection.yaml 87.1% 89.7% 54/62
Multiple_Myeloma.yaml 87.1% 89.2% 108/124 1
THOC2-Related_Intellectual_Disability.yaml 87.1% 87.7% 237/272
Rumination_Disorder.yaml 87.1% 88.3% 61/70
Auditory_Neuropathy.yaml 87.2% 88.2% 95/109 1
Down_syndrome.yaml 87.2% 88.7% 129/148
Bryant-Li-Bhoj_Neurodevelopmental_Syndrome_2.yaml 87.2% 89.1% 272/312
Chromoblastomycosis.yaml 87.2% 88.2% 34/39
Primary_Triglyceride_Deposit_Cardiomyovasculopathy.yaml 87.2% 91.0% 34/39
SPTBN4-Related_Neurodevelopmental_Disorder.yaml 87.2% 88.8% 286/328
Dentici-Novelli_neurodevelopmental_syndrome.yaml 87.2% 89.2% 75/86
Acute_Motor_and_Sensory_Axonal_Neuropathy.yaml 87.2% 88.0% 232/266
Carney-Stratakis_Syndrome.yaml 87.2% 89.3% 82/94
Immunodeficiency_93_and_Hypertrophic_Cardiomyopathy.yaml 87.2% 88.5% 164/188
Otofacial_Neurodevelopmental_Syndrome.yaml 87.3% 89.2% 178/204
Fragile_X-Associated_Primary_Ovarian_Insufficiency.yaml 87.3% 88.8% 137/157
SLC6A1-Related_Disorder.yaml 87.3% 89.2% 144/165 2
White-Sutton_Syndrome.yaml 87.3% 88.8% 179/205
Fibrosarcoma.yaml 87.3% 90.2% 62/71
Koolen_de_Vries_syndrome.yaml 87.3% 89.5% 62/71
CTNNB1_Neurodevelopmental_Disorder.yaml 87.3% 88.6% 200/229
Argininosuccinic_Aciduria.yaml 87.4% 87.6% 228/261
Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml 87.4% 89.1% 83/95
McKusick-Kaufman_Syndrome.yaml 87.4% 88.9% 90/103
Chronic_Primary_Adrenal_Insufficiency.yaml 87.4% 89.0% 118/135
Blepharophimosis-Impaired_Intellectual_Development_Syndrome.yaml 87.5% 89.4% 105/120
COX4I1-Related_COX_Deficiency.yaml 87.5% 89.9% 63/72
Clear_Cell_Ovarian_Carcinoma.yaml 87.5% 89.7% 56/64
Dorsalgia.yaml 87.5% 100.0% 7/8
Familial_Adenomatous_Polyposis.yaml 87.5% 88.6% 77/88
Leiomyosarcoma.yaml 87.5% 90.4% 63/72
Lichen_Simplex_Chronicus.yaml 87.5% 100.0% 7/8
MED13L_Syndrome.yaml 87.5% 87.4% 329/376 1
Maroteaux-Lamy_syndrome.yaml 87.5% 89.1% 91/104
Postinfectious_Vasculitis.yaml 87.5% 90.3% 77/88
STRA6-related_syndromic_microphthalmia.yaml 87.5% 89.2% 77/88
Secondary_Hypertension.yaml 87.5% 100.0% 7/8
Urinary_Bladder_Small_Cell_Neuroendocrine_Carcinoma.yaml 87.5% 89.8% 63/72
Zlotogora-Ogur_Syndrome.yaml 87.5% 89.4% 91/104
Chordoma.yaml 87.6% 88.8% 113/129
Hepatic_Fibrinogen_Storage_Disease.yaml 87.6% 89.0% 99/113
Abetalipoproteinemia.yaml 87.6% 88.5% 290/331
Human_Papillomavirus_Infection.yaml 87.6% 89.8% 85/97
Irritable_Bowel_Syndrome.yaml 87.6% 87.9% 85/97
Xeroderma_Pigmentosum.yaml 87.6% 88.7% 170/194
Amelogenesis_Imperfecta.yaml 87.7% 88.2% 71/81
Chronic_Pancreatitis.yaml 87.7% 89.2% 71/81
Dissociative_Identity_Disorder.yaml 87.7% 89.5% 64/73
MYO6_Hearing_Loss.yaml 87.7% 88.1% 64/73 1
Central_Retinal_Artery_Occlusion.yaml 87.7% 90.5% 57/65
Organophosphate_Poisoning.yaml 87.7% 88.9% 150/171
Dilated_Cardiomyopathy_2A.yaml 87.7% 89.9% 143/163
Spinocerebellar_Ataxia_27B.yaml 87.7% 89.6% 179/204
Chikungunya.yaml 87.8% 88.6% 43/49
Immunodeficiency_131.yaml 87.8% 89.6% 86/98
NUP62-Related_Infantile_Bilateral_Striatal_Necrosis.yaml 87.8% 90.1% 43/49
EGFR_Mutant_NSCLC.yaml 87.8% 87.9% 201/229
Emery_Dreifuss_Muscular_Dystrophy.yaml 87.8% 89.6% 158/180
Sea-Blue_Histiocyte_Syndrome.yaml 87.8% 89.5% 79/90
Malignant_Non_Dysgerminomatous_Germ_Cell_Tumor_Of_Ovary.yaml 87.8% 87.6% 115/131 1
Chemotherapy_Induced_Neutropenia.yaml 87.8% 91.2% 36/41
Late_Complement_Component_Deficiency.yaml 87.8% 88.8% 101/115
Sweet_Syndrome.yaml 87.8% 89.6% 101/115
Fragile_X-Associated_Tremor_Ataxia_Syndrome.yaml 87.8% 89.9% 130/148
Niemann-Pick_Disease_Type_A.yaml 87.8% 90.0% 65/74
COX11-Related_COX_Deficiency.yaml 87.9% 90.7% 29/33
TBX6-Associated_Congenital_Scoliosis.yaml 87.9% 91.7% 29/33
Primary_Coenzyme_Q10_Deficiency.yaml 87.9% 89.5% 102/116
MRPL44_Deficiency.yaml 87.9% 88.3% 226/257 2
GRIN1-Related_Neurodevelopmental_Disorder.yaml 88.0% 90.5% 146/166
Vitiligo.yaml 88.0% 86.5% 190/216 4
Lissencephaly_Spectrum_Disorders.yaml 88.0% 89.5% 161/183 2
Morgagni-Stewart-Morel_Syndrome.yaml 88.0% 88.7% 132/150
Genital_Lichen_Sclerosus.yaml 88.0% 90.2% 81/92
Beta_Mannosidosis.yaml 88.1% 89.4% 111/126
Primary_Progressive_Apraxia_of_Speech.yaml 88.1% 90.6% 37/42
Cauda_Equina_Syndrome.yaml 88.1% 89.1% 89/101 1
Cherubism.yaml 88.1% 90.7% 89/101
CFAP418-related_Retinal_Ciliopathy.yaml 88.2% 90.4% 67/76
Ischemic_Stroke.yaml 88.2% 90.9% 67/76
Yolk_Sac_Tumor.yaml 88.2% 90.3% 67/76
D-Bifunctional_Protein_Deficiency.yaml 88.2% 89.6% 82/93
TGFBI_Corneal_Dystrophies.yaml 88.2% 89.5% 82/93
Pontiac_Fever.yaml 88.2% 88.5% 97/110
Alsahan-Harris_Syndrome.yaml 88.2% 90.5% 60/68
Buruli_Ulcer.yaml 88.2% 89.2% 45/51
Craniofacial-Deafness-Hand_Syndrome.yaml 88.2% 90.1% 165/187
DK1-congenital_disorder_of_glycosylation.yaml 88.2% 89.2% 135/153
Omphalocele.yaml 88.2% 90.3% 75/85
Pseudohypoparathyroidism.yaml 88.2% 90.1% 120/136
Wolf-Hirschhorn_Syndrome.yaml 88.2% 89.5% 195/221
Donnai-Barrow_syndrome.yaml 88.3% 89.8% 113/128
Familial_Sick_Sinus_Syndrome.yaml 88.3% 89.7% 98/111
PRPS1_Superactivity.yaml 88.3% 89.1% 121/137
Maculopapular_Cutaneous_Mastocytosis.yaml 88.3% 89.9% 91/103
Opitz_GBBB_Syndrome.yaml 88.3% 90.3% 91/103
Capillary_Malformation-Arteriovenous_Malformation_Syndrome.yaml 88.4% 91.3% 76/86
Osteogenesis_Imperfecta_Type_IV.yaml 88.4% 89.1% 114/129
GRIN2B-Related_Developmental_and_Epileptic_Encephalopathy.yaml 88.4% 90.8% 99/112
Chronic_Inflammatory_Demyelinating_Polyneuropathy.yaml 88.4% 90.6% 61/69
Posterior_Myocardial_Infarction.yaml 88.4% 87.8% 61/69 1
Cardiofacioneurodevelopmental_Syndrome.yaml 88.4% 89.3% 206/233
Chronic_Obstructive_Pulmonary_Disease.yaml 88.4% 88.4% 229/259 1
Lysosomal_Acid_Phosphatase_Deficiency.yaml 88.5% 92.3% 23/26
Migraine_with_Aura.yaml 88.5% 89.4% 115/130
Duchenne_Muscular_Dystrophy.yaml 88.5% 89.4% 300/339 3
Transient_Neonatal_Pustular_Melanosis.yaml 88.5% 90.0% 77/87
Anauxetic_Dysplasia.yaml 88.5% 90.2% 131/148
Frias_Syndrome.yaml 88.5% 90.5% 108/122
SADDAN.yaml 88.5% 91.9% 54/61
Thymoma.yaml 88.6% 90.7% 93/105
CHIME_syndrome.yaml 88.6% 90.4% 70/79
IgA_Vasculitis.yaml 88.6% 90.7% 109/123
Vitamin_K_Dependent_Coagulation_Factor_Deficiency.yaml 88.6% 91.3% 109/123
Papular_Xanthoma.yaml 88.6% 90.2% 39/44
Postcricoid_Region_Cancer.yaml 88.6% 90.0% 78/88
Myalgic_Encephalomyelitis_Chronic_Fatigue_Syndrome.yaml 88.7% 91.9% 125/141 1
Retinopathy_of_Prematurity.yaml 88.7% 91.6% 47/53
Schinzel-Giedion_Syndrome.yaml 88.7% 88.8% 47/53
Congenital_Diaphragmatic_Hernia.yaml 88.7% 89.1% 306/345
CAPOS_Syndrome.yaml 88.7% 90.0% 212/239 2
Dilated_Cardiomyopathy_1Z.yaml 88.7% 89.9% 220/248
Silent_Sinus_Syndrome.yaml 88.7% 89.7% 118/133
Ochoa_Syndrome.yaml 88.7% 89.9% 134/151
Dysembryoplastic_Neuroepithelial_Tumor.yaml 88.8% 89.7% 71/80 2
Thunderstorm_Asthma.yaml 88.8% 90.3% 71/80 1
Juvenile_Open_Angle_Glaucoma.yaml 88.8% 90.6% 79/89
Early-Infantile_Developmental_and_Epileptic_Encephalopathy.yaml 88.8% 89.2% 238/268 2
Addisons_Disease.yaml 88.8% 89.0% 167/188 1
Autosomal_Recessive_Limb-Girdle_Muscular_Dystrophy.yaml 88.9% 90.7% 112/126
Autosomal_Recessive_Progressive_External_Ophthalmoplegia_1.yaml 88.9% 90.3% 208/234
Galactosialidosis.yaml 88.9% 91.1% 88/99
Legionnaires_Disease.yaml 88.9% 91.1% 80/90
SOX11-Related_Neurodevelopmental_Disorder.yaml 88.9% 90.0% 248/279
Triosephosphate_Isomerase_Deficiency.yaml 88.9% 90.8% 56/63
Whipple_Disease.yaml 88.9% 90.9% 104/117
neuroferritinopathy.yaml 88.9% 89.7% 96/108
Autoimmune_Pulmonary_Alveolar_Proteinosis.yaml 88.9% 89.9% 209/235 1
Autosomal_Dominant_Polycystic_Liver_Disease.yaml 88.9% 89.8% 169/190
Galloway-Mowat_Syndrome.yaml 89.0% 90.4% 202/227
PPM-X_Syndrome.yaml 89.0% 90.1% 202/227
Hantavirus_Pulmonary_Syndrome.yaml 89.0% 90.5% 97/109
Claes-Jensen_Type_X-Linked_Intellectual_Disability.yaml 89.0% 90.4% 243/273
Otopalatodigital_Spectrum_Disorders.yaml 89.0% 91.0% 81/91
STAG3-related_gametogenic_failure.yaml 89.0% 90.5% 65/73
Multiminicore_Disease.yaml 89.1% 90.8% 114/128
NARP_syndrome.yaml 89.1% 89.4% 106/119 1
Mosaic_Variegated_Aneuploidy_Syndrome.yaml 89.1% 89.7% 196/220
Marchiafava_Bignami_Disease.yaml 89.1% 90.4% 90/101
Penttinen_Premature_Aging_Syndrome.yaml 89.1% 91.2% 41/46
TNF_Receptor-Associated_Periodic_Syndrome.yaml 89.1% 89.9% 123/138 2
Medulloblastoma_SHH_Activated.yaml 89.2% 91.5% 74/83
MECP2_Duplication_Syndrome.yaml 89.2% 90.6% 107/120
Chronic_Granulomatous_Disease.yaml 89.2% 90.5% 140/157
Jackson-Weiss_Syndrome.yaml 89.2% 91.1% 66/74
Neuronal_Ceroid_Lipofuscinosis_2.yaml 89.2% 91.2% 66/74
Malignant_Hyperthermia_of_Anesthesia.yaml 89.2% 90.1% 124/139 4
Spondyloepiphyseal_Dysplasia_Congenita.yaml 89.3% 90.2% 191/214
Alternating_Hemiplegia_of_Childhood.yaml 89.3% 89.7% 108/121
Adenylosuccinate_Lyase_Deficiency.yaml 89.3% 89.5% 225/252
Murine_Typhus.yaml 89.3% 91.0% 142/159
Diabetic_Retinopathy.yaml 89.3% 90.8% 92/103
Malaria.yaml 89.3% 90.4% 159/178 1
Clear_Cell_Sarcoma.yaml 89.3% 91.6% 67/75
Monomelic_Amyotrophy.yaml 89.3% 91.4% 67/75
Costello_Syndrome.yaml 89.4% 89.6% 168/188 1
Treacher_Collins_Syndrome.yaml 89.4% 90.2% 126/141 1
Angiosarcoma.yaml 89.4% 89.9% 177/198
Brugada_Syndrome.yaml 89.4% 89.7% 118/132 4
Greig_Cephalopolysyndactyly.yaml 89.4% 92.0% 76/85
Multiple_Sclerosis.yaml 89.5% 90.0% 263/294 1
3-Hydroxyisobutyryl-CoA_Hydrolase_Deficiency.yaml 89.5% 88.8% 221/247 2
ALG3-Congenital_Disorder_of_Glycosylation.yaml 89.5% 91.4% 102/114
Chronic_Traumatic_Encephalopathy.yaml 89.5% 92.9% 34/38
IFT140-related_Recessive_Ciliopathy.yaml 89.5% 91.1% 85/95
PHARC_syndrome.yaml 89.5% 90.3% 94/105 1
Follicular_Lymphoma.yaml 89.5% 90.8% 137/153
Ectodermal_Dysplasia_and_Immunodeficiency_2.yaml 89.6% 91.3% 86/96
Hereditary_Hemorrhagic_Telangiectasia.yaml 89.6% 91.0% 155/173
Free_Sialic_Acid_Storage_Disease.yaml 89.6% 90.3% 181/202
Peutz_Jeghers_Syndrome.yaml 89.6% 90.9% 181/202
Primary_Polyarteritis_Nodosa.yaml 89.6% 88.8% 69/77 3
Primary_Cutaneous_Amyloidosis.yaml 89.7% 90.7% 234/261
Seckel_Syndrome.yaml 89.7% 91.5% 78/87
Temporal_Lobe_Epilepsy.yaml 89.7% 93.7% 26/29
USP9X_Female-Restricted_Syndromic_Intellectual_Disability.yaml 89.7% 90.9% 347/387
Split_Hand_Foot_Malformation.yaml 89.7% 92.0% 113/126
Junctional_Epidermolysis_Bullosa.yaml 89.7% 90.5% 174/194
MCM8-related_gametogenic_failure.yaml 89.7% 91.1% 87/97
VCP-associated_Multisystem_Proteinopathy.yaml 89.7% 90.3% 148/165
Oculogastrointestinal-Neurodevelopmental_Syndrome.yaml 89.7% 92.1% 61/68
Fountain_Syndrome.yaml 89.7% 90.5% 105/117
Microphthalmia_with_Coloboma.yaml 89.7% 91.4% 105/117
WAGR_Syndrome.yaml 89.8% 91.3% 114/127
Scarlet_Fever.yaml 89.8% 90.5% 79/88 1
Primary_Hyperoxaluria_Type_1.yaml 89.8% 92.5% 44/49
Primary_Hyperoxaluria_Type_2.yaml 89.8% 92.4% 44/49
Choroid_Plexus_Carcinoma.yaml 89.8% 91.1% 97/108
Cadmium_Poisoning.yaml 89.8% 90.3% 256/285 1
Familial_Sleep_Related_Hypermotor_Epilepsy.yaml 89.8% 91.4% 159/177
Juvenile_Temporal_Arteritis.yaml 89.8% 89.1% 53/59 2
Arrhythmogenic_Right_Ventricular_Cardiomyopathy.yaml 89.9% 89.7% 257/286 3
Carotid_Artery_Occlusion.yaml 89.9% 91.8% 71/79 1
Dextro_Transposition_of_the_Great_Arteries.yaml 89.9% 91.3% 71/79
Fallopian_Tube_Benign_Neoplasm.yaml 89.9% 90.1% 80/89 1
Benign_Familial_Infantile_Epilepsy.yaml 89.9% 89.2% 187/208 2
LAMB1-Related_Cobblestone_Lissencephaly.yaml 89.9% 91.5% 107/119
Immunodeficiency_Centromeric_Instability_Facial_Anomalies_Syndrome.yaml 89.9% 90.7% 223/248
Erythropoietic_Protoporphyria.yaml 89.9% 91.4% 116/129
Neuronal_Ceroid_Lipofuscinosis_3.yaml 89.9% 92.0% 116/129
Polycystic_Kidney_Disease.yaml 89.9% 89.7% 241/268 1
Thomsen_and_Becker_disease.yaml 89.9% 90.7% 125/139 1
Adenomyosis.yaml 89.9% 91.0% 170/189
B-Lymphoblastic_Leukemia_Lymphoma_With_Recurrent_Genetic_Abnormality.yaml 89.9% 90.7% 170/189
Kabuki_Syndrome.yaml 90.0% 90.2% 269/299
PRKAG2_Cardiac_Syndrome.yaml 90.0% 91.2% 269/299
Essential_Tremor.yaml 90.0% 91.7% 90/100
Glanders.yaml 90.0% 91.0% 54/60
Huppke-Brendel_syndrome.yaml 90.0% 91.3% 99/110
Hypokalemic_Periodic_Paralysis.yaml 90.0% 92.5% 90/100
MCM9-related_gametogenic_failure.yaml 90.0% 92.1% 90/100
Manganism.yaml 90.0% 94.7% 18/20
Mobitz_Type_I_Atrioventricular_Block.yaml 90.0% 92.7% 45/50
Mycetoma.yaml 90.0% 92.9% 72/80
STAT2_Deficiency.yaml 90.0% 93.1% 36/40
Sezary_Syndrome.yaml 90.0% 91.1% 108/120
Inclusion_Body_Myositis.yaml 90.0% 91.8% 271/301
Early-Onset_Autosomal_Dominant_Alzheimer_Disease.yaml 90.0% 90.7% 235/261
Schizophrenia.yaml 90.0% 88.7% 208/231 3
Systemic_Lupus_Erythematosus.yaml 90.0% 89.2% 398/442 4
Neuronal_Ceroid_Lipofuscinosis_7.yaml 90.1% 90.8% 118/131 1
Blepharophimosis_Ptosis_and_Epicanthus_Inversus_Syndrome.yaml 90.1% 91.6% 109/121
Cerebral_Cavernous_Malformation.yaml 90.1% 91.5% 82/91 1
Charcot-Marie-Tooth_Disease_Type_1.yaml 90.1% 91.9% 82/91
Klinefelter_Syndrome.yaml 90.1% 90.2% 155/172 1
NELABA.yaml 90.1% 91.3% 155/172
Trichothiodystrophy.yaml 90.1% 92.2% 73/81
Allopurinol_Induced_SJS_TEN.yaml 90.2% 92.9% 55/61
Anal_Canal_Carcinoma.yaml 90.2% 92.2% 101/112
Kennedy_Disease.yaml 90.2% 92.2% 101/112
Acute_Macular_Neuroretinopathy.yaml 90.2% 93.6% 46/51
Pilarowski-Bjornsson_syndrome.yaml 90.2% 91.7% 92/102
Familial_Cold_Autoinflammatory_Syndrome.yaml 90.2% 91.3% 120/133
CN_Related_DEE.yaml 90.2% 91.6% 111/123 1
Fuchs_Endothelial_Corneal_Dystrophy.yaml 90.2% 91.4% 148/164
SYCE1_Related_Gametogenic_Failure.yaml 90.2% 91.9% 74/82
Lichtenstein-Knorr_Syndrome.yaml 90.3% 91.2% 65/72 1
Schwannoma.yaml 90.3% 91.9% 93/103
Anencephaly.yaml 90.3% 91.7% 84/93
Corpus_Callosum_Agenesis-Intellectual_Disability-Coloboma-Micrognathia_Syndrome.yaml 90.3% 91.4% 112/124
Oculocutaneous_Albinism.yaml 90.3% 91.6% 131/145
Congenital_Pulmonary_Airway_Malformation.yaml 90.4% 91.4% 103/114
BRCA_Mutant_Prostate_Cancer.yaml 90.4% 90.2% 197/218 1
Transitional_Cell_Carcinoma.yaml 90.4% 91.8% 113/125
Creatine_Transporter_Deficiency.yaml 90.5% 92.7% 57/63
RAB5C-Related_Neurodevelopmental_Disorder_with_Macrocephaly.yaml 90.5% 93.3% 38/42
Spondylocostal_Dysostosis.yaml 90.5% 92.1% 95/105
Liposarcoma.yaml 90.5% 92.1% 105/116
KCNH1_Associated_Disorder.yaml 90.5% 92.1% 172/190
Brucellosis.yaml 90.5% 90.3% 249/275 2
Left_Ventricular_Noncompaction.yaml 90.6% 91.6% 115/127
Splenic_Artery_Aneurysm.yaml 90.6% 92.0% 96/106 1
Cole-Carpenter_Syndrome.yaml 90.6% 92.2% 106/117
DPM2-congenital_disorder_of_glycosylation.yaml 90.6% 92.3% 232/256
Phelan-McDermid_Syndrome.yaml 90.6% 91.1% 87/96
Encephalocraniocutaneous_Lipomatosis.yaml 90.7% 91.6% 68/75
Essential_Hypertension.yaml 90.7% 91.8% 68/75
Pallister-Hall_Syndrome.yaml 90.7% 93.0% 68/75
Wilms_Tumor.yaml 90.7% 91.2% 204/225 1
Nijmegen_Breakage_Syndrome-like_Disorder.yaml 90.7% 91.7% 253/279
Epidermolysis_Bullosa_Simplex.yaml 90.7% 91.5% 146/161
Holoprosencephaly_9.yaml 90.7% 91.6% 254/280
Inherited_Porphyria.yaml 90.7% 91.4% 215/237
Carotid_Stenosis.yaml 90.7% 93.2% 88/97 1
Double_Outlet_Right_Ventricle.yaml 90.8% 91.3% 314/346
Cerebral_Amyloid_Angiopathy.yaml 90.8% 92.1% 108/119
Lipoyl_Transferase_1_Deficiency.yaml 90.8% 92.0% 108/119
Progressive_Familial_Heart_Block.yaml 90.8% 94.1% 69/76
SMAD6-related_Craniosynostosis.yaml 90.8% 91.6% 89/98
Cholera.yaml 90.8% 89.6% 297/327 1
Benign_Neonatal_Seizures.yaml 90.9% 90.5% 219/241 2
Anti-GBM_Disease.yaml 90.9% 92.2% 90/99 1
Autosomal_Dominant_Hyper-IgE_Syndrome.yaml 90.9% 92.3% 150/165
Dental_Fluorosis.yaml 90.9% 93.2% 50/55
Endometrial_Endometrioid_Adenocarcinoma.yaml 90.9% 92.1% 120/132
Growth_Hormone_Insensitivity_Syndrome.yaml 90.9% 92.1% 110/121
KCNV2_Related_Retinopathy.yaml 90.9% 94.4% 30/33
Mucopolysaccharidosis_type_IX.yaml 90.9% 93.1% 50/55
Nijmegen_breakage_syndrome.yaml 90.9% 92.4% 70/77
Prurigo_Nodularis.yaml 90.9% 100.0% 10/11
SLC13A5_Citrate_Transporter_Disorder.yaml 90.9% 92.8% 100/110
VPS53-Related_Pontocerebellar_Hypoplasia_Type_2E.yaml 90.9% 93.1% 60/66
5-Oxoprolinase_Deficiency.yaml 91.0% 92.4% 121/133
Mucopolysaccharidosis.yaml 91.0% 92.5% 152/167
Patent_Ductus_Arteriosus.yaml 91.0% 93.4% 71/78
Folliculitis.yaml 91.1% 94.0% 265/291
Cerebral_Proliferative_Angiopathy.yaml 91.1% 91.7% 51/56 1
Laryngotracheoesophageal_Cleft.yaml 91.1% 93.8% 153/168
Empty_Nose_Syndrome.yaml 91.1% 91.3% 143/157 1
Cystic_Fibrosis.yaml 91.1% 91.3% 501/550
Narcolepsy.yaml 91.1% 92.2% 82/90
Sneddon_syndrome.yaml 91.1% 93.8% 41/45
MITF_Waardenburg_Tietz_Spectrum.yaml 91.1% 93.1% 72/79
Uveal_Coloboma-Cleft_Lip_and_Palate-Intellectual_Disability_Syndrome.yaml 91.1% 92.4% 144/158
Pancreatic_Neuroendocrine_Tumor.yaml 91.2% 92.4% 103/113
Idiopathic_Triglyceride_Deposit_Cardiomyovasculopathy.yaml 91.2% 95.4% 31/34
MAN2C1-congenital_disorder_of_deglycosylation_2.yaml 91.2% 94.2% 31/34
UGP2-Related_Developmental_and_Epileptic_Encephalopathy_83.yaml 91.2% 94.3% 31/34
Microcephaly-Capillary_Malformation_Syndrome.yaml 91.2% 92.6% 321/352
Antisynthetase_Syndrome.yaml 91.2% 92.8% 145/159
Obsessive-Compulsive_Disorder.yaml 91.2% 92.1% 156/171
Pineoblastoma.yaml 91.3% 92.6% 94/103
Arginase_Deficiency.yaml 91.3% 91.6% 315/345
Colon_Adenocarcinoma.yaml 91.3% 90.0% 21/23 1
Familial_Exudative_Vitreoretinopathy.yaml 91.3% 92.8% 147/161
Peroxisomal_Acyl-CoA_Oxidase_Deficiency.yaml 91.3% 92.1% 168/184
Cernunnos-XLF_deficiency.yaml 91.4% 93.0% 74/81
Paralytic_Poliomyelitis.yaml 91.4% 93.2% 74/81
Carbon_Monoxide_Poisoning.yaml 91.4% 92.5% 159/174
Familial_Vesicoureteral_Reflux.yaml 91.4% 92.7% 297/325
Brachydactyly_Type_A1.yaml 91.4% 92.2% 149/163
GJB2-GJB6_Digenic_Nonsyndromic_Hearing_Loss.yaml 91.4% 94.3% 32/35
Striate_Palmoplantar_Keratoderma_Type_2.yaml 91.4% 91.4% 171/187 1
Malignant_Peritoneal_Mesothelioma.yaml 91.5% 92.6% 107/117
MET_Exon_14_Skipping_NSCLC.yaml 91.5% 93.9% 75/82
D-2-Hydroxyglutaric_Aciduria.yaml 91.5% 93.3% 237/259 1
Eosinophilic_Esophagitis.yaml 91.5% 93.3% 97/106
Hydatidiform_Mole.yaml 91.5% 93.4% 54/59
Gaucher_Disease.yaml 91.5% 91.5% 260/284 1
MOGAD.yaml 91.5% 92.6% 130/142
Primary_Hyperoxaluria_Type_3.yaml 91.5% 93.1% 65/71
Aortitis.yaml 91.6% 91.5% 239/261 1
IgG4-Related_Sclerosing_Cholangitis.yaml 91.6% 92.8% 87/95 1
Autoimmune_Enteropathy.yaml 91.6% 93.3% 120/131
Otomycosis.yaml 91.6% 91.5% 131/143 2
RYR2_CPVT.yaml 91.6% 92.7% 164/179
Inflammatory_Myofibroblastic_Tumor.yaml 91.7% 93.4% 88/96
MELAS_Syndrome.yaml 91.7% 93.2% 110/120
Osteogenesis_Imperfecta_Type_VI.yaml 91.7% 93.3% 77/84
PAX3_Waardenburg_Spectrum.yaml 91.7% 92.6% 99/108 1
Primary_Hypertrophic_Osteoarthropathy.yaml 91.7% 93.1% 99/108
Social_Anxiety_Disorder.yaml 91.7% 89.0% 132/144 3
UGGT1-congenital_disorder_of_glycosylation.yaml 91.7% 96.1% 44/48
PUS3-Related_Neurodevelopmental_Disorder.yaml 91.7% 93.2% 188/205
Hereditary_Spastic_Paraplegia.yaml 91.7% 93.1% 144/157
Vogt-Koyanagi-Harada_Disease.yaml 91.7% 93.4% 111/121
3-Methylglutaconic_Aciduria_Type_I.yaml 91.8% 92.3% 168/183
Hermansky_Pudlak_Syndrome.yaml 91.8% 93.6% 168/183
Osteonecrosis.yaml 91.8% 93.7% 112/122
Disorder_of_Catecholamine_Synthesis.yaml 91.8% 92.3% 202/220
Sinoatrial_Node_Dysfunction_and_Deafness.yaml 91.8% 92.9% 180/196
Non-functional_Pancreatic_Neuroendocrine_Tumor.yaml 91.9% 93.5% 79/86
Pacak-Zhuang_syndrome.yaml 91.9% 93.0% 79/86
Microcephalic_Osteodysplastic_Primordial_Dwarfism_Type_I.yaml 91.9% 93.1% 147/160
Soil_Transmitted_Helminthiases.yaml 91.9% 92.3% 68/74
Vulvar_Adenocarcinoma.yaml 91.9% 93.0% 102/111
Yaws.yaml 91.9% 94.8% 34/37
Microcephalic_Osteodysplastic_Primordial_Dwarfism_Type_II.yaml 91.9% 93.6% 159/173
Endometrial_Carcinoma.yaml 91.9% 93.1% 171/186
Ocular_Melanoma.yaml 92.0% 93.0% 298/324
Cutaneous_Collagenous_Vasculopathy.yaml 92.0% 91.2% 46/50 2
Incontinentia_Pigmenti.yaml 92.0% 93.3% 138/150
Parenti-Mignot_Neurodevelopmental_Syndrome.yaml 92.0% 93.6% 92/100
Vulvar_Carcinoma.yaml 92.0% 92.4% 115/125 1
Hypertensive_Heart_Disease.yaml 92.0% 91.6% 196/213 1
Rhizomelic_Chondrodysplasia_Punctata_Plasmalogen_Synthesis_Defect.yaml 92.0% 94.1% 127/138
Fibrocartilaginous_Embolism.yaml 92.1% 92.5% 58/63 1
Osteogenesis_Imperfecta_Type_VIII.yaml 92.1% 94.2% 58/63
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml 92.1% 92.5% 244/265
Bainbridge-Ropers_Syndrome.yaml 92.1% 93.7% 279/303
Choroiditis.yaml 92.1% 92.5% 338/367
Charlevoix-Saguenay_spastic_ataxia.yaml 92.1% 93.1% 140/152
Psittacosis.yaml 92.1% 95.0% 35/38
Autosomal_Recessive_Non-Syndromic_Intellectual_Disability.yaml 92.1% 92.3% 340/369 1
Camurati-Engelmann_Disease.yaml 92.2% 93.5% 141/153
Giardiasis.yaml 92.2% 94.2% 236/256
Proteasome_Associated_Autoinflammatory_Syndrome.yaml 92.2% 93.9% 59/64
Leber_Hereditary_Optic_Neuropathy.yaml 92.2% 92.8% 272/295 1
Satoyoshi_Syndrome.yaml 92.2% 92.6% 166/180 1
Eosinophilic_Fasciitis.yaml 92.2% 93.7% 107/116
Keratoderma_Hereditarium_Mutilans.yaml 92.2% 92.4% 107/116 1
Apert_Syndrome.yaml 92.3% 93.2% 143/155
THOC6-Related_Developmental_Delay-Microcephaly-Facial_Dysmorphism_Syndrome.yaml 92.3% 93.6% 155/168 1
Mucopolysaccharidosis-Plus_Syndrome.yaml 92.3% 93.4% 239/259
Lowe_Syndrome.yaml 92.3% 93.4% 96/104
Mucoepidermoid_Carcinoma.yaml 92.3% 94.3% 60/65
Myofibrillar_Myopathy.yaml 92.3% 93.2% 348/377
ROS1_Rearranged_NSCLC.yaml 92.3% 93.0% 168/182
Raynaud_Disease.yaml 92.3% 96.3% 84/91
Rothmund-Thomson_Syndrome.yaml 92.3% 93.7% 108/117
Rienhoff_Syndrome.yaml 92.3% 93.5% 217/235
Squamous_Cell_Carcinoma_of_Penis.yaml 92.4% 93.7% 85/92
TARP_syndrome.yaml 92.4% 94.6% 85/92
Peripheral_T_Cell_Lymphoma.yaml 92.4% 93.3% 158/171
Autosomal_Dominant_Non-Syndromic_Intellectual_Disability.yaml 92.4% 93.5% 220/238
HSD10_Mitochondrial_Disease.yaml 92.5% 93.9% 98/106
Psoriasis_14_Pustular.yaml 92.5% 94.7% 49/53
STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml 92.5% 94.6% 49/53
Lathyrism.yaml 92.5% 93.8% 135/146
Pick_Disease.yaml 92.5% 93.4% 135/146
Ferguson-Bonni_Neurodevelopmental_Syndrome.yaml 92.5% 93.5% 136/147
Cannabis_Hyperemesis_Syndrome.yaml 92.5% 93.7% 99/107
Mantle_Cell_Lymphoma.yaml 92.5% 93.9% 198/214
Congenital_Insensitivity_to_Pain.yaml 92.6% 93.9% 125/135
IKBKG_Ectodermal_Dysplasia_with_Immunodeficiency.yaml 92.6% 93.9% 125/135
Niemann-Pick_Disease_Type_E.yaml 92.6% 96.2% 25/27
Bilateral_Striopallidodentate_Calcinosis.yaml 92.6% 93.9% 113/122
Duane_Retraction_Syndrome.yaml 92.6% 94.2% 88/95
Gestational_Trophoblastic_Neoplasm.yaml 92.6% 94.4% 88/95
CHD8-Related_Neurodevelopmental_Disorder_with_Overgrowth.yaml 92.6% 93.6% 340/367
Progressive_Bulbar_Palsy.yaml 92.6% 94.8% 63/68
Bullous_Pemphigoid.yaml 92.7% 94.3% 101/109
Cerebellar_Ataxia-Hypogonadism_Syndrome.yaml 92.7% 93.9% 152/164
3-Hydroxy-3-Methylglutaric_Aciduria.yaml 92.7% 93.2% 241/260
CHST3-Related_Skeletal_Dysplasia.yaml 92.7% 94.1% 203/219
Progressive_Supranuclear_Palsy.yaml 92.7% 94.1% 140/151
Isolated_Sulfite_Oxidase_Deficiency.yaml 92.7% 94.0% 242/261
Crouzon_Syndrome.yaml 92.7% 94.1% 102/110
Meningeal_Melanocytoma.yaml 92.7% 93.7% 102/110 1
Taeniasis_Cysticercosis.yaml 92.7% 93.7% 51/55
Deafness-Lymphedema-Leukemia_Syndrome.yaml 92.8% 93.4% 128/138
GOLGA2-Related_Golgin_A2_Deficiency.yaml 92.8% 94.8% 64/69
Cryoglobulinemic_Vasculitis.yaml 92.8% 92.8% 90/97 2
Shigellosis.yaml 92.8% 93.5% 103/111
Fanconi_Renotubular_Syndrome.yaml 92.8% 94.0% 129/139
Leprosy.yaml 92.8% 93.9% 129/139
Adult_Onset_Foveomacular_Vitelliform_Dystrophy.yaml 92.9% 94.2% 91/98
Chemotherapy_Induced_Nausea_and_Vomiting.yaml 92.9% 94.2% 65/70
NGLY1-congenital_disorder_of_deglycosylation.yaml 92.9% 95.0% 52/56
Renpenning_syndrome.yaml 92.9% 94.7% 65/70
Diabetes_Mellitus.yaml 92.9% 92.8% 340/366 2
Bardet-Biedl_Syndrome.yaml 92.9% 93.5% 288/310
Lipoic_Acid_Synthetase_Deficiency.yaml 92.9% 94.3% 118/127
Hepatic_Veno-occlusive_Disease-Immunodeficiency_Syndrome.yaml 92.9% 94.4% 92/99
Segmental_Arterial_Mediolysis.yaml 92.9% 93.3% 79/85 1
Meckel_Syndrome.yaml 93.0% 94.0% 211/227
Cough_Variant_Asthma.yaml 93.0% 94.6% 66/71
Keipert_syndrome.yaml 93.0% 94.8% 66/71
Non-Small_Cell_Lung_Cancer.yaml 93.0% 91.8% 185/199 2
Rheumatoid_Vasculitis.yaml 93.0% 93.8% 106/114 2
Salla_Disease.yaml 93.0% 93.9% 159/171 1
Hidradenitis_Suppurativa.yaml 93.0% 94.3% 253/272
Carvajal_Syndrome.yaml 93.0% 94.2% 120/129
Premenstrual_Dysphoric_Disorder.yaml 93.0% 94.2% 147/158
Meier-Gorlin_Syndrome.yaml 93.0% 94.0% 281/302
Autism_Susceptibility_to_X-Linked_3.yaml 93.1% 94.7% 67/72
Primary_Erythermalgia.yaml 93.1% 94.3% 67/72
Dilated_Cardiomyopathy.yaml 93.1% 93.9% 256/275
PUS7-Related_Neurodevelopmental_Disorder.yaml 93.1% 94.5% 283/304
Aneurysm-Osteoarthritis_Syndrome.yaml 93.1% 94.1% 135/145
Panic_Disorder.yaml 93.1% 93.3% 108/116
ReNU_Syndrome.yaml 93.1% 94.7% 108/116
Citrin_Deficiency.yaml 93.1% 93.4% 230/247 1
Kindler_Epidermolysis_Bullosa.yaml 93.1% 93.7% 149/160
Multiple_Epiphyseal_Dysplasia.yaml 93.1% 94.2% 149/160
Pulmonary_Hemosiderosis.yaml 93.2% 94.3% 177/190
Spinocerebellar_Ataxia_43.yaml 93.2% 94.4% 109/117 1
Vertebral_Artery_Insufficiency.yaml 93.2% 94.5% 109/117
Chediak-Higashi_Syndrome.yaml 93.2% 94.6% 123/132
Coronary_Arterial_Fistulas.yaml 93.2% 94.0% 41/44 1
Coronary_Vasospasm.yaml 93.2% 94.7% 82/88
Gaucher_Disease_Due_To_Saposin_C_Deficiency.yaml 93.2% 95.6% 41/44
Granulomatosis_with_Polyangiitis.yaml 93.2% 94.3% 274/294
Mitochondrial_Trifunctional_Protein_Deficiency.yaml 93.2% 93.4% 247/265 1
Common_Variable_Immunodeficiency.yaml 93.2% 94.6% 110/118
Congenital_Heart_Defects_and_Skeletal_Malformations_Syndrome.yaml 93.3% 94.2% 249/267
Alveolar_Soft_Part_Sarcoma.yaml 93.3% 94.3% 97/104
Chondrosarcoma.yaml 93.3% 95.2% 97/104
Barth_Syndrome.yaml 93.3% 94.0% 153/164
Dracunculiasis.yaml 93.3% 92.9% 56/60 1
Hypochondrogenesis.yaml 93.3% 94.1% 168/180
Malnutrition-related_Diabetes_Mellitus.yaml 93.3% 100.0% 14/15
Mercury_Poisoning.yaml 93.3% 96.9% 28/30
Microcephaly_Short_Stature_and_Impaired_Glucose_Metabolism_2.yaml 93.3% 94.7% 182/195
Proliferative_Vitreoretinopathy.yaml 93.3% 95.5% 56/60
UGDH-Related_Developmental_and_Epileptic_Encephalopathy_84.yaml 93.3% 95.9% 42/45
PTCH1-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml 93.4% 94.2% 85/91
Choroid_Plexus_Neoplasm.yaml 93.4% 93.9% 326/349
Familial_Hypercholesterolemia.yaml 93.4% 93.5% 397/425 2
Naxos_disease.yaml 93.4% 94.7% 142/152
Phenylketonuria.yaml 93.4% 94.2% 455/487
Familial_Hyperaldosteronism.yaml 93.4% 94.6% 128/137
Ornithine_Carbamoyltransferase_Deficiency.yaml 93.5% 94.0% 200/214
ADan_amyloidosis.yaml 93.5% 93.7% 229/245
Central_Nervous_System_Teratoma.yaml 93.5% 94.1% 129/138 1
Mitochondrial_DNA_Depletion_Syndrome_7.yaml 93.5% 95.2% 86/92
Isobutyryl-CoA_Dehydrogenase_Deficiency.yaml 93.5% 93.8% 201/215 1
Sly_syndrome.yaml 93.5% 95.6% 101/108
Pleuropulmonary_Blastoma.yaml 93.5% 94.7% 130/139
Contact_Dermatitis.yaml 93.5% 95.6% 217/232
Congenital_Myasthenic_Syndrome.yaml 93.5% 94.6% 174/186
Hereditary_Neuropathy_with_Liability_to_Pressure_Palsies.yaml 93.5% 94.1% 87/93
Osteogenesis_Imperfecta_Type_XVIII.yaml 93.5% 95.6% 58/62
Osteogenesis_Imperfecta_Type_XXII.yaml 93.5% 95.6% 58/62
Pilocytic_Astrocytoma.yaml 93.5% 95.4% 87/93
46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml 93.6% 94.2% 131/140
Feingold_Syndrome.yaml 93.6% 94.6% 131/140
FG_Syndrome_1.yaml 93.6% 94.5% 335/358
Collagenous_Sprue.yaml 93.6% 96.6% 102/109
Hypersensitivity_Pneumonitis.yaml 93.6% 94.2% 102/109 1
Immunoskeletal_Dysplasia_with_Neurodevelopmental_Abnormalities.yaml 93.6% 94.5% 248/265
Cor_Pulmonale.yaml 93.6% 95.1% 73/78 1
Carotid_Web.yaml 93.6% 95.3% 44/47 1
North_Carolina_Macular_Dystrophy.yaml 93.6% 95.1% 88/94
22q11.2_Deletion_Syndrome.yaml 93.6% 94.8% 162/173
Hurler_syndrome.yaml 93.6% 94.8% 162/173
Graves_Disease.yaml 93.7% 93.9% 251/268 2
Parvovirus_B19_Infection.yaml 93.7% 93.4% 133/142 1
oligoastrocytoma.yaml 93.7% 95.2% 74/79
Histiocytoid_Cardiomyopathy.yaml 93.7% 93.9% 237/253 1
Hypertrophic_Cardiomyopathy.yaml 93.7% 93.1% 268/286 2
Congenital_Isolated_Hyperinsulinism.yaml 93.8% 95.7% 120/128
Dengue.yaml 93.8% 100.0% 15/16
GM1_Gangliosidosis_Type_2.yaml 93.8% 95.9% 90/96
Infectious_Disease.yaml 93.8% 100.0% 15/16
Metastatic_Ovarian_Cancer.yaml 93.8% 94.8% 75/80
Osteogenesis_Imperfecta_Type_XII.yaml 93.8% 95.7% 60/64
Kosaki_Overgrowth_Syndrome.yaml 93.8% 95.0% 91/97
MERTK-Related_Retinopathy.yaml 93.8% 95.5% 91/97
Acute_Hypotension.yaml 93.8% 95.6% 76/81
Liddle_Syndrome.yaml 93.9% 94.5% 168/179
TANGO2_Deficiency_Disorder.yaml 93.9% 94.3% 321/342
Scabies.yaml 93.9% 95.4% 46/49
Parathyroid_Hyperplasia.yaml 93.9% 96.7% 108/115
COQ4-Related_Neonatal_Encephalomyopathy.yaml 93.9% 94.8% 201/214
Guillain_Barre_Syndrome.yaml 93.9% 95.0% 93/99
Plasma_Cell_Neoplasm.yaml 93.9% 95.2% 124/132
Splenic_Marginal_Zone_Lymphoma.yaml 93.9% 95.1% 155/165
Woodhouse-Sakati_Syndrome.yaml 93.9% 94.8% 124/132
Measles.yaml 94.0% 95.7% 78/83
Craniopharyngioma.yaml 94.0% 94.9% 172/183
Sjogrens_Syndrome.yaml 94.0% 95.1% 172/183
AFG2A-Related_Encephalopathy.yaml 94.0% 93.9% 219/233 1
Alpha-gal_Syndrome.yaml 94.0% 95.4% 94/100
SEPSECS_Deficiency.yaml 94.0% 96.3% 47/50
Thromboangiitis_Obliterans.yaml 94.0% 95.3% 110/117
ANK2_Ankyrin_B_Syndrome.yaml 94.0% 95.5% 63/67
Osteogenesis_Imperfecta_Type_X.yaml 94.0% 95.9% 63/67
Osteogenesis_Imperfecta_Type_XX.yaml 94.0% 95.9% 63/67
Glutathione_Synthetase_Deficiency.yaml 94.1% 95.2% 95/101
Pancreatic_Mucinous_Cystadenoma.yaml 94.1% 95.3% 95/101
ATTR_Amyloidosis.yaml 94.1% 94.7% 206/219
adrenoleukodystrophy.yaml 94.1% 94.8% 207/220
46_XY_DSD_Due_to_5_Alpha_Reductase_2_Deficiency.yaml 94.1% 94.7% 144/153
Lymphoma.yaml 94.1% 93.5% 32/34 1
Myelodysplastic_Syndrome.yaml 94.1% 95.6% 96/102
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
Chung-Jansen_Syndrome.yaml 94.1% 94.7% 305/324 1
Fibrochondrogenesis.yaml 94.2% 94.9% 145/154
Pancreatic_Agenesis.yaml 94.2% 95.5% 97/103
Chickenpox.yaml 94.2% 94.0% 146/155 1
Mumps.yaml 94.2% 96.0% 65/69
Travelers_Diarrhea.yaml 94.2% 96.3% 65/69
Autosomal_Recessive_Multiple_Pterygium_Syndrome.yaml 94.2% 95.4% 98/104
Brachyphalangy_Polydactyly_Tibial_Aplasia_Syndrome.yaml 94.2% 95.2% 98/104
RP2-Related_Retinopathy.yaml 94.3% 95.8% 82/87
Lead_Poisoning.yaml 94.3% 95.2% 263/279 1
ADGRG1_Bilateral_Frontoparietal_Polymicrogyria.yaml 94.3% 94.4% 247/262 3
Osteogenesis_Imperfecta_Type_XVII.yaml 94.3% 96.2% 66/70
Relapsing_Polychondritis.yaml 94.3% 95.9% 149/158
Familial_Isolated_Vitamin_E_Deficiency.yaml 94.3% 95.7% 100/106
Inherited_Threoninemia.yaml 94.4% 95.7% 117/124
Congenital_Renal_Artery_Stenosis.yaml 94.4% 95.9% 67/71
Erythrokeratodermia_Variabilis.yaml 94.4% 95.8% 67/71
Osteogenesis_Imperfecta_Type_XIX.yaml 94.4% 96.2% 67/71
POEMS_Syndrome.yaml 94.4% 95.9% 67/71
Sagittal_Sinus_Thrombosis.yaml 94.4% 96.2% 67/71
Posterior_Polymorphous_Corneal_Dystrophy.yaml 94.4% 95.8% 84/89
Renal_Artery_Obstruction.yaml 94.4% 95.6% 101/107
Diffuse_Nonepidermolytic_Palmoplantar_Keratoderma.yaml 94.4% 94.8% 135/143 1
AR_Cerebellar_Ataxia-Saccadic_Intrusion_Syndrome.yaml 94.4% 95.0% 136/144
Dentatorubral-Pallidoluysian_Atrophy.yaml 94.4% 95.0% 119/126
Familial_Renal_Glucosuria.yaml 94.4% 96.3% 51/54
Middle_East_Respiratory_Syndrome.yaml 94.4% 96.7% 51/54
Sclerosteosis.yaml 94.4% 96.1% 102/108
Tuberculosis.yaml 94.5% 94.8% 222/235
Ayme-Gripp_Syndrome.yaml 94.5% 94.2% 120/127
Noonan_Syndrome_with_Multiple_Lentigines.yaml 94.5% 95.2% 120/127
Preeclampsia.yaml 94.5% 95.5% 172/182
FOLR1-Related_Cerebral_Folate_Transport_Deficiency.yaml 94.5% 95.6% 121/128
Metachromatic_Leukodystrophy.yaml 94.5% 95.5% 104/110
Schindler_Disease.yaml 94.5% 96.6% 52/55
Migraine.yaml 94.6% 94.7% 139/147
Long_COVID.yaml 94.6% 94.4% 470/497 3
Oppositional_Defiant_Disorder.yaml 94.6% 94.7% 122/129
Lung_Carcinoma.yaml 94.6% 93.9% 35/37 1
Osteogenesis_Imperfecta_Type_XIII.yaml 94.6% 96.3% 70/74
Transaldolase_Deficiency.yaml 94.6% 94.8% 210/222
Tourette_Syndrome.yaml 94.6% 94.0% 141/149 1
Hypomyelinating_Leukodystrophy_7.yaml 94.7% 96.0% 89/94
Menieres_Disease.yaml 94.7% 95.6% 89/94
Punctate_Palmoplantar_Keratoderma.yaml 94.7% 95.5% 107/113
IPEX_Syndrome.yaml 94.7% 95.8% 125/132
H_Syndrome.yaml 94.7% 96.0% 161/170
Humeroradial_Synostosis.yaml 94.7% 95.9% 108/114
Platelet-Type_von_Willebrand_Disease.yaml 94.7% 96.0% 90/95
Primary_Lateral_Sclerosis.yaml 94.7% 100.0% 18/19
VPS51-Related_Pontocerebellar_Hypoplasia-CDG.yaml 94.7% 96.4% 72/76
Leri-Weill_Dyschondrosteosis.yaml 94.8% 95.5% 127/134
Congenital_Myasthenic_Syndrome_6.yaml 94.8% 96.1% 91/96
GRIN2A-Related_Epileptic_Encephalopathy_and_Intellectual_Disability.yaml 94.8% 96.2% 273/288
Penile_Cancer.yaml 94.8% 96.0% 91/96
TTN_Related_Myopathy_Dominant_Negative_TTNsv.yaml 94.8% 96.0% 91/96
Adams-Oliver_Syndrome.yaml 94.8% 95.0% 311/328
Noonan_Syndrome.yaml 94.8% 94.9% 477/503
Dopa_Responsive_Dystonia.yaml 94.8% 95.9% 92/97
Juvenile_Sialidosis_Type_2.yaml 94.9% 96.5% 74/78
Metastatic_HCC.yaml 94.9% 95.7% 93/98
Wilsons_Disease.yaml 94.9% 94.7% 614/647 3
Spasmodic_Dysphonia.yaml 94.9% 96.4% 75/79
Dermatomyositis.yaml 94.9% 95.8% 244/257
Anterior_Spinal_Artery_Syndrome.yaml 95.0% 95.2% 151/159 1
Optic_Neuritis.yaml 95.0% 95.3% 208/219
Idiopathic_Spontaneous_Coronary_Artery_Dissection.yaml 95.0% 96.4% 76/80
Lupus_Nephritis.yaml 95.0% 96.4% 95/100
Malignant_Peripheral_Nerve_Sheath_Tumor.yaml 95.0% 95.9% 114/120
PDE6A-Related_Retinopathy.yaml 95.0% 96.3% 76/80
Refeeding_Syndrome.yaml 95.0% 95.9% 171/180
SYCP3-related_spermatogenic_failure.yaml 95.0% 96.9% 57/60
Transketolase_Deficiency.yaml 95.0% 96.7% 57/60
Hereditary_Pulmonary_Alveolar_Proteinosis.yaml 95.0% 95.9% 134/141
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml 95.0% 95.6% 230/242
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
Meckel_Diverticulum.yaml 95.1% 96.2% 58/61
Cardiac_Valvular_Ehlers-Danlos_Syndrome.yaml 95.1% 96.6% 97/102
Multiple_System_Atrophy.yaml 95.1% 96.5% 97/102
Inborn_Disorder_of_Methionine_Cycle_and_Sulfur_Amino_Acid_Metabolism.yaml 95.1% 95.6% 253/266
Amyotrophic_Lateral_Sclerosis.yaml 95.1% 95.3% 448/471 1
VLCAD_Deficiency.yaml 95.1% 95.5% 234/246 1
3-Methylcrotonyl-CoA_Carboxylase_Deficiency.yaml 95.1% 95.3% 176/185 1
Konzo.yaml 95.2% 96.5% 79/83
Methylmalonic_Acidemia.yaml 95.2% 95.9% 297/312 1
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml 95.2% 95.7% 258/271
Fibromuscular_Dysplasia.yaml 95.2% 97.3% 60/63
STAT6_Gain_of_Function_Disease.yaml 95.3% 96.6% 161/169
Hereditary_Gingival_Fibromatosis.yaml 95.3% 96.1% 121/127
Spaceflight_Associated_Neuro-Ocular_Syndrome.yaml 95.3% 95.7% 81/85
DTYMK-Related_Neurodegeneration.yaml 95.3% 96.3% 265/278
Familial_Mediterranean_Fever.yaml 95.3% 94.9% 143/150 3
Hypothalamic_Hamartoma_with_Gelastic_Seizures.yaml 95.3% 96.2% 164/172
THG1L-Related_Disorder.yaml 95.4% 97.2% 103/108
Arsenic_Related_Cancers.yaml 95.4% 95.4% 268/281
CNS_Vasculitis.yaml 95.4% 96.1% 208/218
EYS_Related_Retinitis_Pigmentosa.yaml 95.4% 96.6% 104/109
Pompe_Disease.yaml 95.4% 96.2% 208/218
ANK2_Related_Complex_Neurodevelopmental_Disorder.yaml 95.5% 97.1% 63/66
Fanconi-Bickel_Syndrome.yaml 95.5% 96.5% 105/110
Multisystemic_Smooth_Muscle_Dysfunction_Syndrome.yaml 95.5% 95.3% 63/66 2
Semantic_Dementia.yaml 95.5% 100.0% 21/22
Snakebite_Envenoming.yaml 95.5% 100.0% 21/22
Hirschsprung_Disease.yaml 95.5% 95.9% 127/133
Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml 95.5% 96.3% 127/133
Perivascular_Epithelioid_Cell_Neoplasm.yaml 95.5% 96.8% 85/89
Primary_Cutaneous_Aggressive_Epidermotropic_CD8_T-cell_Lymphoma.yaml 95.5% 96.8% 85/89
Propionic_Acidemia.yaml 95.5% 96.2% 234/245
Leishmaniasis.yaml 95.5% 96.9% 64/67
Lymphatic_Filariasis.yaml 95.5% 96.8% 64/67
Hereditary_Methemoglobinemia.yaml 95.6% 96.3% 129/135
Osteogenesis_Imperfecta_Type_IX.yaml 95.6% 97.0% 86/90
Combined_Malonic_and_Methylmalonic_Aciduria.yaml 95.6% 97.0% 65/68
Metastatic_Gastric_Cancer.yaml 95.6% 97.0% 65/68
Tetanus.yaml 95.6% 95.2% 65/68 1
Rabies.yaml 95.6% 96.5% 239/250
Noma.yaml 95.6% 96.8% 87/91
L1_Syndrome.yaml 95.6% 96.7% 109/114
Cystic_Echinococcosis.yaml 95.7% 97.5% 44/46
Dientamoebiasis.yaml 95.7% 96.9% 132/138
Primary_Progressive_Aphasia.yaml 95.7% 100.0% 22/23
Pemphigus_Vulgaris.yaml 95.7% 96.6% 133/139
Pseudoxanthoma_Elasticum.yaml 95.7% 96.6% 111/116
Torsade_De_Pointes_Syndrome_With_Short_Coupling_Interval.yaml 95.7% 96.9% 111/116
Choriocarcinoma.yaml 95.7% 96.5% 289/302
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
Atypical_Teratoid_Rhabdoid_Tumor.yaml 95.7% 96.6% 90/94
RNU12-related_Minor_Spliceopathy.yaml 95.7% 97.9% 45/47
Trehalase_Deficiency.yaml 95.7% 97.9% 45/47
Breast_Implant_Associated_Anaplastic_Large_Cell_Lymphoma.yaml 95.8% 95.0% 68/71 2
Post-Traumatic_Stress_Disorder.yaml 95.8% 96.0% 136/142
Rubella.yaml 95.8% 97.4% 68/71
SECISBP2_Deficiency.yaml 95.8% 97.4% 68/71
Sensory_Ataxic_Neuropathy_Dysarthria_Ophthalmoparesis.yaml 95.8% 97.9% 68/71
Delayed_Sleep_Phase_Syndrome.yaml 95.8% 97.9% 91/95
MPI-Congenital_Disorder_of_Glycosylation.yaml 95.8% 96.2% 298/311
Cushings_Syndrome.yaml 95.8% 98.1% 46/48
NDP_Related_Vitreoretinopathy.yaml 95.8% 98.0% 46/48
Beta-Ketothiolase_Deficiency.yaml 95.9% 96.1% 301/314
FAS-related_Autoimmune_Lymphoproliferative_Syndrome.yaml 95.9% 96.4% 163/170
Marden-Walker_Syndrome.yaml 95.9% 97.5% 70/73
Roifman-syndrome.yaml 95.9% 97.2% 70/73
Pseudopseudohypoparathyroidism.yaml 95.9% 96.9% 117/122
Cardiospondylocarpofacial_Syndrome.yaml 95.9% 96.0% 283/295
Complete_Androgen_Insensitivity_Syndrome.yaml 95.9% 96.4% 213/222
Mevalonate_Kinase_Deficiency.yaml 96.0% 97.1% 119/124
CANVAS.yaml 96.0% 97.0% 167/174
Sitosterolemia.yaml 96.0% 97.1% 167/174
Arthrogryposis-Renal_Dysfunction-Cholestasis_Syndrome.yaml 96.0% 96.5% 312/325 1
Northern_Epilepsy.yaml 96.0% 98.1% 48/50
Spinal_Cord_Ischemia.yaml 96.0% 96.1% 72/75 1
Hyperinsulinemic_Hypoglycemia.yaml 96.0% 95.8% 412/429 2
RPE65-Related_Retinopathy.yaml 96.0% 97.2% 97/101
Krabbe_Disease.yaml 96.0% 96.9% 170/177
Carnitine_Palmitoyltransferase_II_Deficiency.yaml 96.1% 97.1% 269/280 1
Congenital_Hypothyroidism.yaml 96.1% 96.7% 196/204
Hypotrichosis_with_Juvenile_Macular_Dystrophy.yaml 96.1% 96.8% 148/154
SCAD_Deficiency.yaml 96.1% 96.2% 124/129
Adult_Refsum_Disease.yaml 96.1% 96.5% 298/310
Hyperprolinemia_Type_2.yaml 96.1% 97.3% 149/155
Glycogen_Storage_Disease_Type_I.yaml 96.1% 96.5% 299/311 1
Acoustic_Neuroma.yaml 96.2% 96.1% 150/156 2
Acquired_Thrombotic_Thrombocytopenic_Purpura.yaml 96.2% 96.5% 200/208
Eosinophilic_Granulomatosis_with_Polyangiitis.yaml 96.2% 96.5% 175/182
Kikuchi-Fujimoto_Disease.yaml 96.2% 97.3% 101/105
Musculocontractural_Ehlers-Danlos_Syndrome.yaml 96.2% 97.3% 253/263
Mycosis_Fungoides.yaml 96.2% 97.0% 102/106 1
Nonketotic_Hyperglycinemia.yaml 96.2% 97.0% 204/212
Cri-du-Chat_Syndrome.yaml 96.3% 97.4% 232/241
Genitopatellar_Syndrome.yaml 96.3% 97.3% 104/108
Cerebellar_Ataxia_Intellectual_Disability_and_Dysequilibrium.yaml 96.3% 97.5% 105/109
Meacham_syndrome.yaml 96.3% 97.1% 105/109
Partial_Androgen_Insensitivity_Syndrome.yaml 96.3% 96.7% 237/246
Hospital-Acquired_Acute_Kidney_Injury.yaml 96.4% 97.2% 132/137
COA3-Related_COX_Deficiency.yaml 96.4% 98.1% 53/55
Glomus_Tumor.yaml 96.4% 97.1% 265/275
Arts_syndrome.yaml 96.4% 97.5% 160/166
Facioscapulohumeral_Muscular_Dystrophy.yaml 96.4% 97.5% 80/83
Adenine_Phosphoribosyltransferase_Deficiency.yaml 96.4% 96.3% 294/305
Schneckenbecken_Dysplasia.yaml 96.4% 97.3% 188/195
MPDU1-congenital_disorder_of_glycosylation.yaml 96.4% 97.0% 189/196
Liberfarb_syndrome.yaml 96.5% 97.7% 82/85
Noonan_Syndrome-like_Disorder_with_Loose_Anagen_Hair.yaml 96.5% 97.9% 82/85
IRX5-related_Craniofacial_Dysostosis_with_Osteopenia_Intellectual_Disability_and_Dental_Anomalies.yaml 96.5% 96.3% 110/114 1
PRKN-Related_Juvenile_Parkinson_Disease.yaml 96.5% 96.8% 193/200 1
Lane_Hamilton_Syndrome.yaml 96.5% 98.5% 83/86
Oculofaciocardiodental_Syndrome.yaml 96.6% 97.7% 196/203
Acute_Myeloid_Leukemia_with_CEBPA_Somatic_Mutations.yaml 96.6% 97.7% 253/262
Amyloidosis.yaml 96.6% 97.6% 113/117
SLC35A2-CDG.yaml 96.6% 97.9% 85/88
Metaphyseal_Chondrodysplasia_Schmid_Type.yaml 96.6% 97.4% 142/147
Cleidocranial_Dysplasia.yaml 96.6% 98.2% 114/118
Friedreich_Ataxia.yaml 96.6% 97.0% 286/296
Congenital_Total_Pulmonary_Venous_Return_Anomaly.yaml 96.6% 97.9% 86/89
Silver_Russell_Syndrome.yaml 96.6% 97.5% 115/119
Adult-Onset_Autosomal_Dominant_Demyelinating_Leukodystrophy.yaml 96.6% 97.0% 173/179 2
COL11A2_Hearing_Loss.yaml 96.7% 97.1% 58/60 1
Gitelman_Syndrome.yaml 96.7% 97.2% 174/180
Pulmonary_Veno_Occlusive_Disease_And_Or_Pulmonary_Capillary_Haemangiomatosis.yaml 96.7% 97.7% 117/121
Anti-NMDA_Receptor_Encephalitis.yaml 96.7% 97.6% 176/182
Hashimoto_Encephalopathy.yaml 96.7% 97.3% 147/152
Fabry_Disease.yaml 96.7% 97.4% 414/428
ECHS1_Deficiency.yaml 96.7% 96.9% 89/92
Cyclosporiasis.yaml 96.7% 97.5% 119/123 1
Juvenile_Polyposis_Syndrome.yaml 96.8% 97.1% 209/216
Chronic_Neurovisceral_Acid_Sphingomyelinase_Deficiency.yaml 96.8% 98.4% 60/62
Progressive_Muscular_Atrophy.yaml 96.8% 98.5% 60/62
Inborn_Disorder_of_Bile_Acid_Synthesis.yaml 96.8% 97.8% 121/125
Primary_Pigmented_Nodular_Adrenocortical_Disease.yaml 96.8% 97.8% 121/125
Kallmann_Syndrome.yaml 96.8% 98.0% 91/94
Dimethylglycine_Dehydrogenase_Deficiency.yaml 96.8% 98.4% 122/126
Isovaleric_Acidemia.yaml 96.8% 97.2% 244/252
ARX-Related_Lissencephaly_and_Interneuronopathy.yaml 96.8% 97.2% 275/284 1
Peters_Plus_Syndrome.yaml 96.8% 97.7% 214/221
Scimitar_Syndrome.yaml 96.9% 97.7% 123/127
PRPS1_Deficiency_Spectrum.yaml 96.9% 97.4% 185/191
Infantile_Parkinsonism-Dystonia.yaml 96.9% 98.1% 93/96
Schnitzler_Syndrome.yaml 96.9% 98.4% 93/96
Adult_Polyglucosan_Body_Disease.yaml 96.9% 97.4% 219/226
ABCC9-Related_Intellectual_Disability_and_Myopathy_Syndrome.yaml 96.9% 97.7% 282/291
Cleft_Lip_Palate.yaml 96.9% 98.0% 94/97
Melkersson_Rosenthal_syndrome.yaml 96.9% 98.7% 94/97
Acute_Annular_Outer_Retinopathy.yaml 96.9% 96.6% 157/162 1
Hemochromatosis.yaml 96.9% 97.2% 317/327
Beckwith-Wiedemann_Syndrome.yaml 97.0% 97.7% 160/165
Glucose-Galactose_Malabsorption.yaml 97.0% 98.6% 64/66
Antiphospholipid_Syndrome.yaml 97.0% 96.2% 355/366 2
Glycogen_Storage_Disease_Type_IV.yaml 97.0% 97.4% 292/301
Tyrosinemia_Type_II.yaml 97.0% 98.5% 65/67
Combined_Pituitary_Hormone_Deficiencies_Genetic_Form.yaml 97.0% 97.7% 163/168
Bells_Palsy.yaml 97.0% 98.1% 131/135
Ludwigs_Angina.yaml 97.0% 97.9% 131/135
Isolated_Woolly_Hair.yaml 97.1% 98.6% 67/69
Rosacea.yaml 97.1% 98.1% 268/276
Hartnup_Disease.yaml 97.1% 97.6% 237/244
Citrullinemia_Type_I.yaml 97.1% 97.5% 271/279
Carbonic_Anhydrase_VA_Deficiency.yaml 97.1% 98.7% 68/70
Chondrodysplasia_Punctata_Tibial-metacarpal_Type.yaml 97.1% 98.2% 102/105
Holocarboxylase_Synthetase_Deficiency.yaml 97.1% 97.4% 272/280 1
Ataxia_Telangiectasia.yaml 97.2% 97.6% 274/282
AIP-related_pituitary_adenoma_predisposition.yaml 97.2% 98.2% 206/212
Larsen_Syndrome.yaml 97.2% 98.5% 103/106
Giant_Cell_Arteritis.yaml 97.2% 98.1% 138/142
Neuronal_Ceroid_Lipofuscinosis.yaml 97.2% 98.0% 139/143
3-Phosphoglycerate_Dehydrogenase_Deficiency.yaml 97.2% 97.9% 244/251
Breast_Fibroadenoma.yaml 97.2% 100.0% 35/36
RHO-Related_Retinopathy.yaml 97.2% 98.2% 106/109
Neuromyelitis_Optica_Spectrum_Disorder.yaml 97.3% 97.5% 71/73 1
Obesity_Due_to_MC4R_Pathway_Disruption.yaml 97.3% 98.2% 107/110
Achromatopsia.yaml 97.3% 96.9% 250/257 1
Neuropsychiatric_SLE.yaml 97.3% 98.2% 215/221
Carnitine_Palmitoyltransferase_1A_Deficiency.yaml 97.3% 98.0% 144/148
Hypotonia-Cystinuria_Syndrome.yaml 97.3% 97.9% 180/185
MSMO1_Deficiency.yaml 97.3% 98.0% 326/335
N-Acetylglutamate_Synthase_Deficiency.yaml 97.3% 97.8% 218/224
Uterine_Leiomyoma.yaml 97.3% 98.4% 109/112
FOXE3_Anterior_Segment_Dysgenesis.yaml 97.4% 98.6% 74/76
Membranous_Nephropathy.yaml 97.4% 98.3% 111/114
Adrenal_Cortex_Adenoma.yaml 97.4% 97.7% 339/348
2-Methylbutyryl-CoA_Dehydrogenase_Deficiency.yaml 97.4% 98.2% 190/195
Frontonasal_Dysplasia.yaml 97.4% 98.8% 76/78
Kufor-Rakeb_syndrome.yaml 97.4% 98.4% 114/117
Pycnodysostosis.yaml 97.4% 98.2% 152/156
CKD-Mineral_Bone_Disorder.yaml 97.5% 98.4% 269/276
Burkitt_Lymphoma.yaml 97.5% 99.2% 117/120
CDH23-associated_pituitary_adenoma_5.yaml 97.5% 100.0% 39/40
Foodborne_Trematodiases.yaml 97.5% 100.0% 39/40
Hepatoblastoma.yaml 97.5% 99.1% 117/120
Bosch-Boonstra-Schaaf_Optic_Atrophy_Syndrome.yaml 97.5% 97.6% 235/241
Zellweger_Spectrum_Disorders.yaml 97.5% 98.1% 196/201
SUFU-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml 97.5% 98.7% 79/81
GM3_Synthase_Deficiency.yaml 97.5% 98.0% 199/204
Arteriosclerotic_Retinopathy.yaml 97.6% 100.0% 40/41
Homocystinuria.yaml 97.6% 97.8% 405/415
Spondyloepimetaphyseal_Dysplasia_Bieganski_Type.yaml 97.6% 98.9% 122/125
Mucolipidosis_Type_III_Alpha_Beta.yaml 97.6% 98.0% 331/339
Bachmann-Bupp_Syndrome.yaml 97.7% 98.3% 295/302
Adult_T_Cell_Leukemia_Lymphoma.yaml 97.8% 98.8% 174/178
Grange_syndrome.yaml 97.8% 98.9% 87/89
Bacterial_meningitis.yaml 97.8% 98.1% 263/269
Shashi_X-Linked_Intellectual_Disability_Syndrome.yaml 97.8% 98.7% 132/135
Gilberts_Syndrome.yaml 97.8% 98.8% 90/92
ADNP-Related_Syndrome.yaml 97.9% 98.1% 320/327 2
BRPF1-Related_Intellectual_Disability.yaml 97.9% 98.2% 413/422 1
CHD2-Related_Developmental_and_Epileptic_Encephalopathy.yaml 97.9% 99.1% 139/142
Hepatitis_B.yaml 97.9% 97.9% 232/237
Raine_Syndrome.yaml 97.9% 98.5% 280/286
Arboleda-Tham_Syndrome.yaml 97.9% 98.2% 187/191 1
EEFSEC_Deficiency.yaml 97.9% 100.0% 47/48
Familial_Focal_Epilepsy_With_Variable_Foci.yaml 97.9% 99.0% 94/96
FOXP1_Syndrome.yaml 97.9% 98.4% 382/390 1
Nemaline_Myopathy.yaml 98.0% 98.0% 288/294
Takayasu_Arteritis.yaml 98.0% 98.6% 240/245
Arterial_Calcification_of_Infancy.yaml 98.0% 98.6% 145/148
Congenital_Sucrase-Isomaltase_Deficiency.yaml 98.0% 98.9% 146/149
SLC45A1-Related_Neuronal_Glucose_Transporter_Deficiency.yaml 98.0% 100.0% 49/50
46_XX_Testicular_DSD.yaml 98.0% 98.4% 247/252
X-linked_Agammaglobulinemia.yaml 98.1% 99.1% 101/103
ornithine_aminotransferase_deficiency.yaml 98.1% 98.7% 152/155
Polycystic_Echinococcosis.yaml 98.1% 100.0% 51/52
Southern_Tick-Associated_Rash_Illness.yaml 98.1% 100.0% 51/52
Cat-Scratch_Disease.yaml 98.1% 98.2% 103/105 1
Ethylmalonic_Encephalopathy.yaml 98.1% 99.1% 103/105
ALK_Rearranged_NSCLC.yaml 98.1% 99.3% 156/159
Limb-Girdle_Muscular_Dystrophy_Autosomal_Dominant.yaml 98.1% 99.1% 105/107
Apparent_Mineralocorticoid_Excess.yaml 98.1% 99.1% 106/108
Menkes_Disease.yaml 98.1% 98.3% 212/216
Schistosomiasis.yaml 98.1% 100.0% 53/54
Maple_Syrup_Urine_Disease.yaml 98.2% 98.5% 321/327
Hairy_Cell_Leukemia.yaml 98.2% 99.4% 108/110
EFL1-related_Shwachman-Diamond_syndrome.yaml 98.2% 99.1% 110/112
PGM2L1_Deficiency.yaml 98.2% 100.0% 55/56
Jeavons_Syndrome.yaml 98.2% 99.1% 111/113
Cowden_Syndrome.yaml 98.2% 98.9% 167/170
3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml 98.2% 98.5% 224/228 1
Congenital_Epulis.yaml 98.2% 100.0% 56/57
Tetrahydrobiopterin_Deficiency.yaml 98.3% 98.9% 172/175
Livedoid_Vasculopathy.yaml 98.3% 100.0% 58/59
Retrograde_Cricopharyngeus_Dysfunction.yaml 98.3% 100.0% 58/59
Sifrim-Hitz-Weiss_Syndrome.yaml 98.3% 99.2% 116/118
Arthrogryposis_Multiplex_Congenita.yaml 98.3% 98.5% 117/119 1
RPGR-Related_Retinopathy.yaml 98.3% 99.2% 117/119
Coccidioidomycosis.yaml 98.3% 99.3% 176/179
L-2-Hydroxyglutaric_Aciduria.yaml 98.3% 98.8% 236/240
Hereditary_Fructose_Intolerance.yaml 98.3% 98.9% 178/181
Age_Related_Macular_Degeneration.yaml 98.4% 98.8% 179/182 1
Axenfeld-Rieger_syndrome.yaml 98.4% 98.7% 185/188 1
Hemophagocytic_Lymphohistiocytosis.yaml 98.4% 99.2% 125/127
Stiff_Person_Syndrome.yaml 98.4% 99.0% 189/192
Myeloproliferative_Neoplasm_Unclassifiable.yaml 98.5% 100.0% 65/66
Idiopathic_Phalangeal_Acro-osteolysis.yaml 98.5% 100.0% 66/67
Prune_Belly_Syndrome.yaml 98.5% 98.6% 199/202 1
COL11A2_Skeletal_Spectrum.yaml 98.5% 98.8% 134/136 1
Carnitine-Acylcarnitine_Translocase_Deficiency.yaml 98.6% 99.2% 272/276
Osteosarcoma.yaml 98.6% 98.3% 138/140 1
Acute_Megakaryoblastic_Leukemia.yaml 98.6% 99.2% 346/351
MCAD_Deficiency.yaml 98.6% 99.1% 208/211
Akinetopsia.yaml 98.6% 100.0% 70/71
FGFR1_Hypogonadotropic_Hypogonadism.yaml 98.6% 99.3% 141/143
Amyotrophic_Lateral_Sclerosis-Parkinsonism-Dementia_Complex.yaml 98.6% 99.1% 142/144 1
Visual_Snow_Syndrome.yaml 98.6% 100.0% 71/72
CHRNA1-associated_Fetal_Hypo-akinesia_Disorder_of_Prenatal_Onset.yaml 98.6% 100.0% 72/73
Cholesteatoma.yaml 98.6% 99.1% 217/220
Congenital_Lactase_Deficiency.yaml 98.6% 100.0% 73/74
Mullegama-Klein-Martinez_Syndrome.yaml 98.7% 99.4% 149/151
MGAT2-congenital_disorder_of_glycosylation.yaml 98.7% 99.4% 150/152
Renal_Tubular_Acidosis_Distal_4_with_Hemolytic_Anemia.yaml 98.7% 99.3% 151/153
SETD5_Haploinsufficiency_Syndrome.yaml 98.7% 99.2% 383/388
Acute_Lymphoblastic_Leukemia.yaml 98.7% 99.6% 233/236
OTUD6B-Related_Neurodevelopmental_Disorder.yaml 98.7% 99.2% 235/238
Smith-Lemli-Opitz_syndrome.yaml 98.7% 99.3% 157/159
Pyruvate_Carboxylase_Deficiency_Disease.yaml 98.8% 99.4% 158/160
Schaaf-Yang_Syndrome.yaml 98.8% 99.2% 237/240
Peroxisome_Biogenesis_Disorder_4B.yaml 98.8% 99.0% 159/161
Cronkhite-Canada_syndrome.yaml 98.8% 100.0% 80/81
Hao-Fountain_syndrome.yaml 98.8% 100.0% 80/81
Houge-Janssens_Syndrome.yaml 98.8% 99.4% 161/163
Tyrosinemia_Type_I.yaml 98.8% 99.2% 242/245
Aspartylglucosaminuria.yaml 98.8% 98.9% 323/327 2
Appendiceal_Neuroendocrine_Tumor.yaml 98.8% 100.0% 81/82
Arterial_Dissection_Lentiginosis_Syndrome.yaml 98.8% 100.0% 81/82
Brain_Small_Vessel_Disease_1_With_Or_Without_Ocular_Anomalies.yaml 98.8% 99.4% 162/164
Agnathia-Otocephaly_Complex.yaml 98.8% 99.0% 328/332
Peroxisome_Biogenesis_Disorder_1B.yaml 98.8% 99.0% 164/166
Waldenstrom_Macroglobulinemia.yaml 98.8% 100.0% 82/83
Anaplastic_Large_Cell_Lymphoma.yaml 98.8% 98.8% 166/168 1
Sialidosis_Type_1.yaml 98.8% 99.2% 250/253
Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml 98.8% 99.2% 250/253
Pyruvate_Dehydrogenase_Deficiency.yaml 98.8% 99.0% 504/510
Epidermolysis_Bullosa.yaml 98.8% 99.1% 254/257
Hereditary_Diffuse_Leukoencephalopathy_with_Spheroids.yaml 98.8% 100.0% 85/86
X-linked_Nonsyndromic_Hearing_Loss.yaml 98.8% 100.0% 85/86
Atelosteogenesis_Type_III.yaml 98.8% 99.4% 171/173
Wolman_Disease.yaml 98.9% 99.5% 172/174
Landau-Kleffner_Syndrome.yaml 98.9% 100.0% 87/88
Lesch-Nyhan_Syndrome.yaml 98.9% 99.2% 262/265
Hereditary_Orotic_Aciduria.yaml 98.9% 99.4% 177/179
ALG1-Congenital_Disorder_of_Glycosylation.yaml 98.9% 100.0% 91/92
Atelosteogenesis_Type_II.yaml 98.9% 99.0% 276/279 1
PRPH2-Related_Retinopathy.yaml 99.0% 100.0% 95/96
Alpha_Mannosidosis.yaml 99.0% 99.2% 476/481
Blepharophimosis_Intellectual_Disability_Syndrome_MKB_Type.yaml 99.0% 100.0% 96/97
Atelosteogenesis_Type_I.yaml 99.0% 99.5% 193/195
Adenosine_Kinase_Deficiency.yaml 99.0% 99.5% 199/201
Achoo_Syndrome.yaml 99.0% 100.0% 100/101
Acrocallosal_Syndrome.yaml 99.0% 99.5% 202/204
MEDNIK_syndrome.yaml 99.0% 100.0% 101/102
Hunter_syndrome.yaml 99.0% 99.5% 203/205
Chronic_Myelomonocytic_Leukemia.yaml 99.0% 100.0% 103/104
Hereditary_Intrinsic_Factor_Deficiency.yaml 99.0% 100.0% 104/105
Semicircular_Canal_Dehiscence_Syndrome.yaml 99.0% 99.0% 208/210
Achondrogenesis_Type_II.yaml 99.1% 99.5% 211/213
Meningioma.yaml 99.1% 99.0% 211/213
Farber_Disease.yaml 99.1% 99.5% 213/215
Cutaneous_Larva_Migrans.yaml 99.1% 100.0% 107/108
Acrodysostosis.yaml 99.1% 99.6% 220/222
Sanfilippo_syndrome.yaml 99.1% 99.6% 221/223
CRB1_Retinal_Dystrophies.yaml 99.1% 100.0% 111/112
Temtamy_Syndrome.yaml 99.1% 100.0% 112/113
Central_Congenital_Hypothyroidism.yaml 99.1% 100.0% 113/114
Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml 99.1% 100.0% 113/114
Brown-Vialetto-Van_Laere_Syndrome.yaml 99.1% 100.0% 115/116
Myxedema.yaml 99.1% 100.0% 116/117
Morquio_syndrome.yaml 99.1% 99.6% 233/235
Autosomal_Dominant_Striatal_Neurodegeneration.yaml 99.2% 100.0% 117/118
Transverse_Myelitis.yaml 99.2% 100.0% 117/118
Acromesomelic_Dysplasia_Maroteaux_Type.yaml 99.2% 99.6% 235/237
Galactosemia.yaml 99.2% 99.6% 235/237
Anal_Canal_Adenocarcinoma.yaml 99.2% 100.0% 118/119
Stevens-Johnson_Syndrome.yaml 99.2% 99.6% 239/241
Adenovirus_Respiratory_Infection.yaml 99.2% 100.0% 120/121
CALFAN_Syndrome.yaml 99.2% 100.0% 120/121
X-linked_Dystonia-Parkinsonism.yaml 99.2% 100.0% 120/121
Anorexia_Nervosa.yaml 99.2% 99.3% 242/244
Autosomal_Recessive_Ataxia_Beauce_Type.yaml 99.2% 100.0% 121/122
Pars_Planitis.yaml 99.2% 100.0% 121/122
Activated_PI3K-delta_Syndrome.yaml 99.2% 99.5% 243/245 1
Acetaminophen_Hepatotoxicity.yaml 99.2% 99.6% 247/249
Achondroplasia.yaml 99.2% 99.4% 375/378 1
Aortic_Valve_Disease_2.yaml 99.2% 100.0% 126/127
STK4_Deficiency.yaml 99.2% 100.0% 128/129
Arterial_Tortuosity_Syndrome.yaml 99.2% 100.0% 131/132
Borderline_Personality_Disorder.yaml 99.2% 100.0% 131/132
Ainhum.yaml 99.3% 100.0% 136/137
Glycogen_Storage_Disease_XV.yaml 99.3% 100.0% 137/138
Acute_Lichenoid_Pityriasis.yaml 99.3% 99.6% 278/280
Acquired_Immunodeficiency_Syndrome.yaml 99.3% 100.0% 141/142
Body_Dysmorphic_Disorder.yaml 99.3% 100.0% 143/144
Anaplastic_Thyroid_Carcinoma.yaml 99.3% 100.0% 145/146
Lysinuric_Protein_Intolerance.yaml 99.3% 100.0% 145/146
AL_Amyloidosis.yaml 99.3% 99.7% 292/294
Chorea-acanthocytosis.yaml 99.3% 100.0% 148/149
Seborrheic_Dermatitis.yaml 99.3% 100.0% 150/151
ACAD9_Deficiency.yaml 99.3% 99.3% 152/153
Adult-Onset_Still_Disease.yaml 99.4% 100.0% 153/154
Fucosidosis.yaml 99.4% 99.7% 306/308
Neurodegeneration_With_Brain_Iron_Accumulation.yaml 99.4% 100.0% 153/154
Coffin_Siris_Syndrome.yaml 99.4% 99.7% 307/309
ALDH18A1_Cutis_Laxa.yaml 99.4% 100.0% 157/158
Acquired_Angioedema.yaml 99.4% 100.0% 157/158
BLOC1S1-related_Complex_Neurodevelopmental_Disorder_with_Leukodystrophy.yaml 99.4% 100.0% 157/158
Genetic_Developmental_and_Epileptic_Encephalopathy.yaml 99.4% 100.0% 160/161
Acatalasia.yaml 99.4% 100.0% 162/163
Arsenic_Poisoning.yaml 99.4% 100.0% 164/165
Leptospirosis.yaml 99.4% 99.4% 332/334
Lafora_Disease.yaml 99.4% 99.7% 333/335
Budd-Chiari_Syndrome.yaml 99.4% 100.0% 168/169
CHARGE_Syndrome.yaml 99.4% 100.0% 168/169
COFS_Syndrome.yaml 99.4% 100.0% 168/169
Glycogen_Storage_Disease_Type_VII.yaml 99.4% 100.0% 168/169
Bohring-Opitz_syndrome.yaml 99.4% 99.4% 172/173
BEST1-Related_Dominant_Retinopathy.yaml 99.4% 100.0% 173/174
MMACHC-related_Methylmalonic_Aciduria_and_Homocystinuria_cblC_Type.yaml 99.4% 100.0% 173/174
Sandhoff_Disease.yaml 99.4% 100.0% 173/174
CACNA1A_Related_Disorder.yaml 99.4% 100.0% 174/175
CD27-related_lymphoproliferative_and_immune_disorder.yaml 99.4% 100.0% 174/175
Acute_Hepatitis_C_Virus_Infection.yaml 99.4% 100.0% 175/176
BRAF_V600E_Mutant_NSCLC.yaml 99.4% 100.0% 175/176
Pontocerebellar_Hypoplasia.yaml 99.4% 100.0% 177/178
Spinocerebellar_Ataxia_Type_17.yaml 99.4% 100.0% 177/178
Limbic_Encephalitis.yaml 99.5% 100.0% 181/182
Clostridioides_difficile_Infection.yaml 99.5% 99.5% 184/185
Neurosarcoidosis.yaml 99.5% 100.0% 184/185
Cortisone_Reductase_Deficiency.yaml 99.5% 100.0% 185/186
COG7-Congenital_Disorder_of_Glycosylation.yaml 99.5% 100.0% 188/189
ATRX_Syndrome.yaml 99.5% 100.0% 192/193
ALG12_Congenital_Disorder_of_Glycosylation.yaml 99.5% 100.0% 193/194
Autosomal_Recessive_Cerebellar_Ataxia_With_Late_Onset_Spasticity.yaml 99.5% 100.0% 193/194
Susac_Syndrome.yaml 99.5% 100.0% 195/196
CADASIL_Type_1.yaml 99.5% 100.0% 198/199
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml 99.5% 100.0% 200/201
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
Asparagine_Synthetase_Deficiency.yaml 99.5% 100.0% 207/208
Aggressive_NK-cell_Leukemia.yaml 99.5% 100.0% 212/213
Amniotic_Band_Syndrome.yaml 99.5% 100.0% 218/219
AGAT_Deficiency.yaml 99.5% 100.0% 221/222
Agenesis_of_the_Corpus_Callosum_with_Peripheral_Neuropathy.yaml 99.6% 100.0% 228/229
Alkaptonuria.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
Paraneoplastic_Neurological_Syndromes.yaml 99.6% 100.0% 247/248
Acute_Disseminated_Encephalomyelitis.yaml 99.6% 100.0% 252/253
COG1-congenital_disorder_of_glycosylation.yaml 99.6% 100.0% 252/253
Cystinuria.yaml 99.6% 100.0% 253/254
ALDH18A1_De_Barsy_Spectrum.yaml 99.6% 100.0% 254/255
Aromatase_Deficiency.yaml 99.6% 100.0% 255/256
Tangier_Disease.yaml 99.6% 100.0% 260/261
APL_PML_RARA.yaml 99.6% 100.0% 263/264
Say-Barber-Biesecker-Young-Simpson_Syndrome.yaml 99.6% 100.0% 263/264
Acquired_Partial_Lipodystrophy.yaml 99.6% 100.0% 268/269
Berardinelli_Seip_Congenital_Lipodystrophy.yaml 99.6% 100.0% 272/273
Botulism.yaml 99.7% 99.7% 296/297
Adult_Onset_Dystonia_Parkinsonism.yaml 99.7% 100.0% 308/309
Stargardt_Disease.yaml 99.7% 99.7% 320/321
Acute_Intermittent_Porphyria.yaml 99.7% 100.0% 331/332
Biotinidase_Deficiency.yaml 99.7% 100.0% 335/336
Hyperornithinemia_Hyperammonemia_Homocitrullinuria_Syndrome.yaml 99.7% 100.0% 345/346
46_XX_Gonadal_Dysgenesis.yaml 99.7% 100.0% 365/366
46_XY_complete_gonadal_dysgenesis.yaml 99.7% 100.0% 376/377
Bosma_Arhinia_Microphthalmia_Syndrome.yaml 99.7% 99.6% 387/388
Autosomal_Recessive_Dopa_Responsive_Dystonia.yaml 99.7% 100.0% 395/396
Cerebrotendinous_Xanthomatosis.yaml 99.8% 100.0% 433/434
Acne_Vulgaris.yaml 100.0% 100.0% 169/169
Acute_Flaccid_Myelitis.yaml 100.0% 100.0% 232/232
Atrial_Septal_Defect.yaml 100.0% 100.0% 210/210
Attention_Deficit-Hyperactivity_Disorder.yaml 100.0% 100.0% 170/170
Auto-Brewery_Syndrome.yaml 100.0% 100.0% 132/132
Autoimmune_Hepatitis.yaml 100.0% 100.0% 212/212
Autoinflammation_Immune_Dysregulation_and_Eosinophilia.yaml 100.0% 100.0% 220/220
Autosomal_Dominant_Cerebellar_Ataxia_Type_I.yaml 100.0% 100.0% 209/209
Autosomal_Dominant_Cerebellar_Ataxia_Type_III.yaml 100.0% 100.0% 185/185
Autosomal_Dominant_Dopa_Responsive_Dystonia.yaml 100.0% 100.0% 212/212
Autosomal_Recessive_Primary_Microcephaly.yaml 100.0% 100.0% 495/495
BBSome-Related_Retinitis_Pigmentosa.yaml 100.0% 100.0% 208/208
BCKDK_Deficiency.yaml 100.0% 100.0% 238/238
BRAF_V600_Mutant_Melanoma.yaml 100.0% 100.0% 236/236
Babesiosis.yaml 100.0% 100.0% 331/331
Binge_Eating_Disorder.yaml 100.0% 100.0% 117/117
Bird_Fanciers_Lung.yaml 100.0% 100.0% 273/273
Blau_Syndrome.yaml 100.0% 100.0% 236/236
Bloom_Syndrome.yaml 100.0% 100.0% 237/237
Borjeson-Forssman-Lehmann_syndrome.yaml 100.0% 100.0% 250/250
Lynch_Syndrome.yaml 100.0% 100.0% 227/227
Machado_Joseph_Disease.yaml 100.0% 100.0% 191/191
SETBP1_Disorder.yaml 100.0% 100.0% 84/84
Thallium_Poisoning.yaml 100.0% 100.0% 233/233

DISMECH Capability Metrics

Tracking 1,827 curated entries, 96,992 evidence items, 74,281 ontology-grounded terms, and 10,245 pathophysiology nodes. Average weighted compliance is 89.8%. MONDO human-disease coverage includes 1,763 exact-page terms and 10,259 exact-or-parent represented terms.

View the capability metrics report

Not Yet Curated Disease Links

Found 472 referenced MONDO disease terms without local pages across 516 linking page references.

View the uncurated disease link report

MONDO Curation Priorities

24693 of 24693 MONDO candidates remain after accounting for 0 already curated diseases. Top remaining candidate: glioblastoma (79.5).

View the curation priority dashboard