QC Dashboard - Multi-File Comparison

1304 files analyzed (sorted by compliance, lowest first)

Files Analyzed

1304

Average Compliance

85.6%

Total Checks

146024/170653

Total Violations

404

Slot Compliance Comparison

File Comparison

Priority Files - Detailed View

Showing the 10 files with lowest compliance for prioritized curation.

#1: Acute_Hypotension.yaml (35.7%)

Detail for Acute_Hypotension.yaml

#2: Acute_Hepatitis_C_Virus_Infection.yaml (39.7%)

Detail for Acute_Hepatitis_C_Virus_Infection.yaml

#3: Anterior_Spinal_Artery_Syndrome.yaml (44.0%)

Detail for Anterior_Spinal_Artery_Syndrome.yaml

#4: Green_Tobacco_Sickness.yaml (47.3%)

Detail for Green_Tobacco_Sickness.yaml

#5: Chronic_Intestinal_Pseudoobstruction.yaml (48.1%)

Detail for Chronic_Intestinal_Pseudoobstruction.yaml

#6: Brachyphalangy_Polydactyly_Tibial_Aplasia_Syndrome.yaml (48.8%)

Detail for Brachyphalangy_Polydactyly_Tibial_Aplasia_Syndrome.yaml

#7: Chronic_Kidney_Disease.yaml (49.5%)

Detail for Chronic_Kidney_Disease.yaml

#8: Arsenic_Related_Cancers.yaml (49.7%)

Detail for Arsenic_Related_Cancers.yaml

#9: COVID-19.yaml (50.4%)

Detail for COVID-19.yaml

#10: Volumetric_Muscle_Loss.yaml (51.7%)

Detail for Volumetric_Muscle_Loss.yaml

All Files (Sorted by Priority)

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

File Global Weighted Populated Violations
#1 Acute_Hypotension.yaml 35.7% 38.6% 50/140
#2 Acute_Hepatitis_C_Virus_Infection.yaml 39.7% 42.4% 58/146
#3 Anterior_Spinal_Artery_Syndrome.yaml 44.0% 45.4% 51/116
#4 Green_Tobacco_Sickness.yaml 47.3% 59.2% 62/131
#5 Chronic_Intestinal_Pseudoobstruction.yaml 48.1% 58.1% 26/54 1
#6 Brachyphalangy_Polydactyly_Tibial_Aplasia_Syndrome.yaml 48.8% 62.1% 39/80
#7 Chronic_Kidney_Disease.yaml 49.5% 52.6% 48/97
#8 Arsenic_Related_Cancers.yaml 49.7% 51.8% 93/187
#9 COVID-19.yaml 50.4% 62.0% 61/121 2
#10 Volumetric_Muscle_Loss.yaml 51.7% 65.8% 60/116 1
Congenital_Pulmonary_Airway_Malformation.yaml 52.7% 66.8% 58/110
Acute_Lichenoid_Pityriasis.yaml 52.9% 56.0% 63/119
Hypotrichosis_with_Juvenile_Macular_Dystrophy.yaml 52.9% 68.5% 72/136
Aflatoxin_Related_HCC.yaml 54.1% 57.1% 86/159
Acute_Annular_Outer_Retinopathy.yaml 54.7% 58.0% 47/86 1
PRPS1_Deficiency_Spectrum.yaml 55.8% 70.0% 106/190
Mediator_Complex_Neurodevelopmental_Disorder.yaml 55.9% 68.9% 171/306 1
Obstructive_Sleep_Apnea.yaml 55.9% 58.7% 38/68 1
COG1-congenital_disorder_of_glycosylation.yaml 56.1% 70.0% 74/132
Disorder_of_Catecholamine_Synthesis.yaml 56.4% 68.9% 124/220
Barth_Syndrome.yaml 56.5% 69.7% 78/138
Lesch-Nyhan_Syndrome.yaml 56.6% 71.0% 125/221
DSP_Cardiomyopathy.yaml 56.6% 68.2% 30/53 1
Hypochondroplasia.yaml 56.7% 72.4% 68/120
KRT85_Ectodermal_Dysplasia.yaml 56.8% 71.0% 25/44
Sinoatrial_Block.yaml 56.9% 71.0% 29/51
Budd-Chiari_Syndrome.yaml 57.1% 70.2% 44/77 1
Spaceflight_Associated_Neuro-Ocular_Syndrome.yaml 57.1% 72.9% 44/77
Snijders_Blok-Campeau_Syndrome.yaml 57.3% 73.1% 71/124
Chronic_Primary_Adrenal_Insufficiency.yaml 57.3% 69.3% 67/117
Infantile_Spasms.yaml 57.4% 70.2% 66/115
Biotin_Thiamine_Responsive_Basal_Ganglia_Disease.yaml 57.5% 71.8% 104/181
Acute_Lymphoblastic_Leukemia.yaml 57.5% 65.9% 77/134 1
Small_Cell_Lung_Cancer.yaml 57.5% 63.7% 46/80 1
Murine_Typhus.yaml 57.6% 72.5% 87/151
Kleefstra_Syndrome.yaml 57.7% 70.8% 56/97
Cutaneous_Squamous_Cell_Carcinoma.yaml 57.9% 69.4% 44/76
Penttinen_Premature_Aging_Syndrome.yaml 57.9% 70.9% 22/38
Hereditary_Hyperekplexia.yaml 57.9% 73.2% 95/164
Fibrosarcoma.yaml 58.0% 71.4% 40/69
Hepatic_Fibrinogen_Storage_Disease.yaml 58.1% 72.7% 50/86
aceruloplasminemia.yaml 58.2% 68.9% 57/98
Neuromyelitis_Optica.yaml 58.2% 67.6% 85/146 5
Polycythemia_Vera.yaml 58.4% 70.6% 94/161 1
Juvenile_Open_Angle_Glaucoma.yaml 58.4% 71.8% 52/89
Paratyphoid_Fever.yaml 58.4% 71.1% 45/77
Autoimmune_Hepatitis.yaml 58.5% 65.2% 24/41
Alveolar_Rhabdomyosarcoma.yaml 58.6% 59.2% 82/140
MPDU1-congenital_disorder_of_glycosylation.yaml 58.6% 72.6% 109/186
TP63_Ectodermal_Dysplasia_Spectrum.yaml 58.6% 71.1% 51/87 1
FGFR1_Hypogonadotropic_Hypogonadism.yaml 58.8% 74.0% 67/114
CRB1_Retinal_Dystrophies.yaml 58.8% 75.1% 50/85
Familial_Sick_Sinus_Syndrome.yaml 58.8% 73.4% 60/102
Metachromatic_Leukodystrophy.yaml 58.9% 71.5% 63/107
Odonto-Onycho-Dermal_Dysplasia.yaml 58.9% 74.0% 63/107
Keratosis_Follicularis_Spinulosa_Decalvans.yaml 58.9% 73.5% 89/151
IKBKG_Ectodermal_Dysplasia_with_Immunodeficiency.yaml 59.1% 73.6% 75/127
Generalized_Anxiety_Disorder.yaml 59.1% 65.0% 39/66
Heart_Failure.yaml 59.2% 63.7% 45/76
Gastroesophageal_Reflux_Disease.yaml 59.3% 63.6% 32/54
HER2_Positive_Gastric_Cancer.yaml 59.3% 64.7% 48/81 1
APL_PML_RARA.yaml 59.3% 62.2% 99/167
Tooth_and_Nail_Syndrome.yaml 59.5% 70.7% 44/74 1
Down_syndrome.yaml 59.6% 71.5% 81/136
ALG9-congenital_disorder_of_glycosylation.yaml 59.6% 73.4% 87/146
Psoriasis_14_Pustular.yaml 59.6% 74.9% 31/52
Gastrointestinal_Stromal_Tumor.yaml 59.6% 66.3% 34/57 1
Peripheral_Artery_Disease.yaml 59.6% 64.0% 34/57
Pemphigus_Vulgaris.yaml 59.7% 73.8% 77/129 1
Arterial_Tortuosity_Syndrome.yaml 60.0% 63.2% 54/90 1
Cervical_Artery_Dissection.yaml 60.0% 73.5% 36/60
SOX10_Neurocristopathy_Spectrum.yaml 60.0% 72.5% 45/75
Vascular_Ehlers-Danlos_Syndrome.yaml 60.0% 72.2% 33/55
Polycystic_Kidney_Disease.yaml 60.1% 72.7% 146/243 1
Adenosine_Kinase_Deficiency.yaml 60.2% 75.0% 118/196
Allergic_Cutaneous_Vasculitis.yaml 60.2% 62.9% 59/98 1
Hypoplasminogenemia.yaml 60.2% 73.1% 50/83 1
North_Carolina_Macular_Dystrophy.yaml 60.2% 74.7% 50/83
FLNA_Intestinal_Pseudoobstruction.yaml 60.3% 69.4% 35/58
Costello_Syndrome.yaml 60.4% 71.0% 99/164 1
Maroteaux-Lamy_syndrome.yaml 60.4% 75.9% 55/91
MITF_Waardenburg_Tietz_Spectrum.yaml 60.5% 74.5% 46/76
Stevens-Johnson_Syndrome.yaml 60.5% 75.1% 138/228
Medulloblastoma.yaml 60.6% 70.2% 20/33
FLT3_Mutant_AML.yaml 60.7% 64.4% 54/89 1
Anorexia_Nervosa.yaml 60.7% 62.7% 136/224
Clear_Cell_Renal_Cell_Carcinoma.yaml 60.8% 68.1% 45/74 1
Neuronal_Ceroid_Lipofuscinosis_2.yaml 60.8% 73.5% 45/74
Attention_Deficit-Hyperactivity_Disorder.yaml 60.9% 62.9% 131/215
MET_Exon_14_Skipping_NSCLC.yaml 60.9% 65.6% 39/64 1
Core_Binding_Factor_AML.yaml 61.0% 65.9% 47/77 1
Malan_Syndrome.yaml 61.1% 77.0% 55/90
Cystic_Fibrosis.yaml 61.2% 73.1% 322/526
Punctate_Palmoplantar_Keratoderma.yaml 61.2% 74.7% 60/98
Galactosemia.yaml 61.2% 74.4% 128/209
Episodic_Ataxia.yaml 61.3% 72.0% 46/75 1
Juvenile_Polyposis_Syndrome.yaml 61.4% 74.2% 127/207
HER2_Positive_Colorectal_Cancer.yaml 61.4% 66.1% 43/70 1
PRPH2-Related_Retinopathy.yaml 61.4% 75.0% 51/83
Alopecia_Areata.yaml 61.5% 63.5% 24/39
Desmoplastic_Small_Round_Cell_Tumor.yaml 61.5% 65.7% 40/65 1
Congenital_Hypofibrinogenemia.yaml 61.7% 75.3% 29/47
Neuronal_Ceroid_Lipofuscinosis_1.yaml 61.8% 74.4% 42/68
Brucellosis.yaml 61.8% 75.9% 76/123
Cardiospondylocarpofacial_Syndrome.yaml 61.8% 75.8% 123/199
Periventricular_Nodular_Heterotopia.yaml 61.9% 75.7% 86/139
Alport_Syndrome.yaml 62.0% 64.6% 106/171
Psoriasis.yaml 62.0% 67.9% 111/179 1
Perivascular_Epithelioid_Cell_Neoplasm.yaml 62.0% 72.6% 49/79
Hypermobile_Ehlers-Danlos_Syndrome.yaml 62.1% 75.7% 41/66
Kennedy_Disease.yaml 62.2% 76.1% 69/111
Merkel_Cell_Carcinoma.yaml 62.2% 65.4% 46/74 1
Carvajal_Syndrome.yaml 62.2% 75.3% 79/127
Stargardt_Disease.yaml 62.3% 75.9% 180/289
Deafness-Lymphedema-Leukemia_Syndrome.yaml 62.3% 76.5% 81/130
Reelin_Pathway_Lissencephaly.yaml 62.3% 75.2% 48/77
Seborrheic_Dermatitis.yaml 62.4% 76.1% 93/149
Inborn_Disorder_of_Methionine_Cycle_and_Sulfur_Amino_Acid_Metabolism.yaml 62.5% 74.9% 158/253
Hepatitis_C.yaml 62.5% 69.0% 35/56 1
Primary_Sclerosing_Cholangitis.yaml 62.5% 67.7% 25/40
Aicardi_Syndrome.yaml 62.6% 75.0% 82/131
Glioblastoma_IDH_Wildtype.yaml 62.6% 65.0% 67/107 1
Obesity.yaml 62.6% 67.0% 57/91 1
FGFR_Altered_Cholangiocarcinoma.yaml 62.7% 66.7% 52/83 1
Bipolar_Disorder.yaml 62.7% 67.4% 42/67
Adult_Onset_Foveomacular_Vitelliform_Dystrophy.yaml 62.8% 75.7% 54/86
Alternating_Hemiplegia_of_Childhood.yaml 62.8% 74.9% 71/113
PAX3_Waardenburg_Spectrum.yaml 62.9% 76.3% 56/89
Li-Fraumeni_Syndrome.yaml 63.0% 65.6% 102/162 1
Central_Retinal_Artery_Occlusion.yaml 63.1% 75.9% 41/65
Dermatomyositis.yaml 63.1% 77.2% 149/236
Chronic_Myeloid_Leukemia.yaml 63.2% 67.4% 60/95 1
Otopalatodigital_Spectrum_Disorders.yaml 63.2% 75.9% 48/76
Primary_Myelofibrosis.yaml 63.3% 74.2% 133/210 1
Bilateral_Striopallidodentate_Calcinosis.yaml 63.4% 75.4% 59/93
Progressive_Myoclonus_Epilepsy.yaml 63.5% 77.2% 40/63
Epilepsy.yaml 63.6% 73.4% 173/272 1
Behcets_Disease.yaml 63.6% 75.2% 56/88
Irritable_Bowel_Syndrome.yaml 63.6% 63.9% 49/77 1
Neuronal_Ceroid_Lipofuscinosis_3.yaml 63.6% 75.8% 49/77
Okur_Chung_neurodevelopmental_syndrome.yaml 63.6% 74.5% 56/88
Sjogrens_Syndrome.yaml 63.7% 77.0% 107/168
Pfeiffer_Syndrome.yaml 63.9% 75.3% 39/61
Platelet-Type_von_Willebrand_Disease.yaml 64.0% 76.9% 55/86
Granulomatosis_with_Polyangiitis.yaml 64.2% 77.4% 188/293
Camptodactyly.yaml 64.2% 68.8% 43/67 1
MGAT2-congenital_disorder_of_glycosylation.yaml 64.2% 77.2% 79/123
Clear_Cell_Sarcoma.yaml 64.3% 74.4% 45/70
Multiple_System_Atrophy.yaml 64.3% 79.6% 63/98
RPGR-Related_Retinopathy.yaml 64.4% 79.4% 47/73
Fragile_X_Syndrome.yaml 64.4% 73.7% 114/177
Krabbe_Disease.yaml 64.5% 77.4% 107/166
Scarlet_Fever.yaml 64.5% 75.5% 49/76 1
Osteoglophonic_Dysplasia.yaml 64.5% 78.8% 69/107
Infantile_Myofibromatosis.yaml 64.5% 76.3% 20/31
Blepharophimosis_Ptosis_and_Epicanthus_Inversus_Syndrome.yaml 64.6% 78.0% 73/113
Pancreatic_Neuroendocrine_Tumor.yaml 64.6% 75.6% 73/113
Age_Related_Macular_Degeneration.yaml 64.6% 68.3% 42/65
Retinoblastoma.yaml 64.7% 71.9% 33/51 1
Thromboangiitis_Obliterans.yaml 65.0% 77.8% 76/117
Kawasaki_Disease.yaml 65.0% 72.7% 208/320 1
Autoimmune_Polyendocrine_Syndrome_Type_1.yaml 65.2% 77.1% 73/112
IDH_Mutant_Astrocytoma.yaml 65.2% 68.8% 45/69 1
Multiple_Endocrine_Neoplasia_Type_2.yaml 65.3% 67.9% 47/72 1
Coronary_Artery_Disease.yaml 65.4% 69.5% 34/52
Thallium_Poisoning.yaml 65.4% 77.8% 136/208
IDH_Mutant_Cholangiocarcinoma.yaml 65.4% 68.5% 53/81 1
Primary_Cutaneous_Aggressive_Epidermotropic_CD8_T-cell_Lymphoma.yaml 65.5% 77.9% 55/84
Gastric_Cancer_H_pylori_Associated.yaml 65.5% 72.1% 76/116
Osteoporosis.yaml 65.5% 67.1% 78/119 1
Pseudopseudohypoparathyroidism.yaml 65.6% 77.4% 80/122
EDN3_EDNRB_Waardenburg_Shah.yaml 65.6% 76.1% 42/64
Glaucoma.yaml 65.6% 73.5% 63/96 1
Endometriosis.yaml 65.7% 67.4% 67/102 1
Pheochromocytoma_Paraganglioma.yaml 66.0% 69.1% 62/94 1
Nasopharyngeal_Carcinoma.yaml 66.0% 70.7% 66/100 1
Atypical_Hemolytic_Uremic_Syndrome.yaml 66.1% 68.1% 121/183
Benign_Prostatic_Hyperplasia.yaml 66.2% 69.1% 45/68 1
Giant_Cell_Arteritis.yaml 66.2% 79.1% 94/142
Systemic_Sclerosis.yaml 66.3% 76.9% 65/98
Liver_Cirrhosis.yaml 66.3% 72.2% 67/101
Burkitt_Lymphoma.yaml 66.7% 70.9% 52/78 1
Kosaki_Overgrowth_Syndrome.yaml 66.7% 76.2% 50/75
Pinta.yaml 66.7% 68.4% 10/15
Polymyositis.yaml 66.7% 76.2% 64/96 1
Primary_Biliary_Cholangitis.yaml 66.7% 70.0% 32/48
Essential_Thrombocythemia.yaml 66.9% 78.1% 97/145 1
Bronchiectasis.yaml 67.0% 71.6% 77/115 1
Fibromyalgia.yaml 67.0% 71.5% 71/106
Uveal_Melanoma.yaml 67.0% 68.8% 67/100 1
EBV_Associated_Gastric_Cancer.yaml 67.1% 72.0% 53/79 1
Renal_Cell_Carcinoma.yaml 67.3% 72.6% 35/52 2
Kaposi_Sarcoma.yaml 67.4% 69.9% 58/86 1
IDH_Mutant_Oligodendroglioma.yaml 67.5% 69.3% 54/80 1
HPV_Negative_Head_and_Neck_Cancer.yaml 67.6% 69.7% 75/111 1
Polycystic_Ovary_Syndrome.yaml 67.7% 69.1% 109/161 1
Galactosialidosis.yaml 67.9% 75.1% 38/56
IDH_Mutant_AML.yaml 68.0% 70.2% 66/97 1
RET_Fusion_Thyroid_Cancer.yaml 68.1% 70.3% 49/72 1
Hemophilia_A.yaml 68.1% 74.7% 81/119
Triple_Negative_Breast_Cancer.yaml 68.1% 70.9% 47/69 1
Chronic_Lymphocytic_Leukemia.yaml 68.1% 71.5% 62/91 1
Autosomal_Dominant_Cerebellar_Ataxia_Type_III.yaml 68.1% 71.0% 139/204
Medulloblastoma_SHH_Activated.yaml 68.3% 77.8% 56/82
FGFR_Altered_Urothelial_Carcinoma.yaml 68.3% 70.3% 41/60 1
Hepatocellular_Carcinoma.yaml 68.4% 71.1% 106/155 1
Major_Depressive_Disorder.yaml 68.5% 72.2% 74/108 1
Adenylosuccinate_Lyase_Deficiency.yaml 68.7% 75.5% 173/252
Diffuse_Large_B_Cell_Lymphoma.yaml 68.7% 71.9% 68/99 1
Juvenile_Idiopathic_Arthritis.yaml 69.1% 79.1% 114/165 1
Neuroblastoma.yaml 69.1% 73.8% 47/68 1
Atrial_Fibrillation.yaml 69.4% 73.3% 50/72 1
Beta_Thalassemia.yaml 69.4% 76.1% 100/144
Pancreatic_Ductal_Adenocarcinoma.yaml 69.5% 72.7% 123/177 3
Medulloblastoma_WNT_Activated.yaml 69.7% 71.4% 53/76 1
SRPX2-related_Speech_Epilepsy_Polymicrogyria.yaml 70.0% 73.1% 77/110 2
Spondyloepimetaphyseal_Dysplasia_Strudwick_Type.yaml 70.0% 80.9% 91/130
Osteosarcoma.yaml 70.1% 80.2% 61/87 1
Atopic_Dermatitis.yaml 70.2% 74.6% 106/151 2
Huntington_Disease.yaml 70.3% 76.1% 248/353 4
Warburg_Micro_Syndrome.yaml 70.4% 74.2% 107/152
Alpha_1_Antitrypsin_Deficiency.yaml 70.4% 71.4% 150/213 1
Ovarian_High-Grade_Serous_Carcinoma.yaml 70.6% 75.9% 115/163 2
Charcot-Marie-Tooth_Disease.yaml 70.7% 74.6% 29/41
Influenza.yaml 70.8% 80.4% 51/72
Van_Buchem_Disease.yaml 71.2% 76.9% 74/104
CACNA1A_Related_Disorder.yaml 71.2% 81.5% 109/153
CRADD-Related_Thin_Lissencephaly.yaml 71.4% 75.7% 40/56 1
Frontotemporal_Dementia.yaml 71.4% 72.8% 35/49 2
Gastric_Ulcer.yaml 71.4% 80.0% 5/7
MSI_High_Colorectal_Cancer.yaml 71.6% 74.6% 73/102 1
Ataxia_Telangiectasia.yaml 71.6% 74.7% 194/271
Immune_Thrombocytopenia.yaml 72.0% 78.5% 36/50
Ewing_Sarcoma.yaml 72.1% 72.4% 302/419 2
NTRK_Fusion_Positive_Cancer.yaml 72.1% 73.6% 44/61 1
Malignant_Mesothelioma.yaml 72.2% 76.0% 57/79 1
Metastatic_Colorectal_Cancer.yaml 72.2% 77.7% 57/79
Sengers_syndrome.yaml 72.3% 79.8% 99/137
Hartsfield_Syndrome.yaml 72.3% 81.7% 47/65
Danon_disease.yaml 72.4% 78.6% 110/152
Von_Hippel-Lindau_Disease.yaml 72.5% 74.6% 66/91
Cervical_Cancer.yaml 72.5% 76.9% 74/102
Encephalocraniocutaneous_Lipomatosis.yaml 72.7% 78.6% 40/55
PKP2_Cardiomyopathy.yaml 72.8% 78.0% 59/81
Focal_Segmental_Glomerulosclerosis.yaml 72.9% 75.8% 113/155 1
HPV_Positive_Head_and_Neck_Cancer.yaml 73.1% 75.4% 57/78 1
Metastatic_Melanoma.yaml 73.2% 75.7% 60/82 1
Autosomal_Dominant_Cerebellar_Ataxia_Type_I.yaml 73.2% 78.5% 41/56
Follicular_Lymphoma.yaml 73.2% 77.2% 82/112
BRAF_Mutant_Thyroid_Cancer.yaml 73.3% 74.6% 63/86 1
Acute_Megakaryoblastic_Leukemia.yaml 73.4% 78.3% 94/128
Tuberous_Sclerosis_Complex.yaml 73.6% 77.2% 206/280
Laryngeal_Squamous_Cell_Carcinoma.yaml 73.6% 77.0% 81/110
Dystroglycanopathy.yaml 73.7% 79.0% 174/236
KRAS_G12C_Mutant_NSCLC.yaml 73.8% 75.6% 59/80 1
Metastatic_Ovarian_Cancer.yaml 73.8% 81.0% 59/80
ER_Positive_Breast_Cancer.yaml 73.8% 77.4% 45/61 1
Metastatic_Renal_Cell_Carcinoma.yaml 73.8% 75.7% 62/84
Familial_Sleep_Related_Hypermotor_Epilepsy.yaml 73.8% 81.9% 110/149
Psoriatic_Arthritis.yaml 73.8% 82.0% 48/65 1
Autoimmune_Hemolytic_Anemia.yaml 73.9% 78.4% 34/46
Adult_T_Cell_Leukemia_Lymphoma.yaml 74.0% 75.7% 71/96 1
MSI_High_Endometrial_Cancer.yaml 74.1% 75.9% 60/81 1
Bartter_Syndrome.yaml 74.1% 80.7% 209/282
AGAT_Deficiency.yaml 74.2% 74.9% 141/190
Netherton_Syndrome.yaml 74.3% 80.0% 153/206
Cystinosis.yaml 74.3% 83.4% 335/451
CADASIL_Type_1.yaml 74.4% 82.0% 116/156
Metastatic_Prostate_Cancer.yaml 74.4% 75.4% 64/86 1
Hyperlipidemia.yaml 74.5% 81.2% 149/200 1
Ankylosing_Spondylitis.yaml 74.6% 78.5% 100/134
Bardet-Biedl_Syndrome.yaml 75.0% 81.8% 204/272 1
Familial_Partial_Lipodystrophy.yaml 75.0% 79.8% 96/128
Kabuki_Syndrome.yaml 75.0% 80.6% 222/296
Langerhans_Cell_Histiocytosis.yaml 75.0% 79.6% 60/80
Leptospirosis.yaml 75.0% 83.9% 231/308
Pulmonary_hypertension.yaml 75.0% 79.3% 87/116 1
Type_2_Diabetes_Mellitus.yaml 75.2% 77.8% 115/153 2
Osteoarthritis.yaml 75.3% 77.8% 70/93 1
Autoimmune_Encephalitis.yaml 75.3% 78.6% 55/73 1
HER2_Positive_Breast_Cancer.yaml 75.5% 76.5% 71/94 2
Mixed_Connective_Tissue_Disease.yaml 75.6% 80.1% 31/41
Sarcoidosis.yaml 75.6% 82.7% 208/275 2
Familial_Adenomatous_Polyposis.yaml 75.7% 78.2% 56/74
Joubert_syndrome.yaml 75.8% 80.5% 449/592
Papillary_Thyroid_Carcinoma.yaml 75.9% 79.8% 44/58
Inherited_Ichthyosis.yaml 75.9% 79.2% 107/141
Diffuse_Astrocytoma.yaml 75.9% 80.6% 63/83
Triglyceride_Storage_Disease_Type_1.yaml 75.9% 84.6% 41/54
Achondrogenesis_Type_II.yaml 76.0% 85.4% 117/154
Pouchitis.yaml 76.1% 81.7% 35/46
PCWH_syndrome.yaml 76.2% 80.1% 64/84 1
3-Methylcrotonyl-CoA_Carboxylase_Deficiency.yaml 76.2% 79.6% 173/227
Testicular_Germ_Cell_Tumor.yaml 76.3% 78.5% 58/76
Metastatic_NSCLC.yaml 76.4% 77.9% 68/89 1
Campylobacteriosis.yaml 76.5% 83.1% 143/187
IgG4-Related_Disease.yaml 76.6% 78.7% 108/141 1
FICUS_syndrome.yaml 76.6% 86.1% 59/77
Hereditary_Spastic_Paraplegia_48.yaml 76.9% 84.7% 30/39
Type_I_Diabetes.yaml 76.9% 76.3% 237/308 7
Drug_or_Toxin-Induced_Pulmonary_Arterial_Hypertension.yaml 77.1% 78.1% 54/70 3
Cervical_Squamous_Cell_Carcinoma.yaml 77.2% 81.1% 44/57
Autism_Spectrum_Disorder.yaml 77.2% 80.5% 78/101
ANK2_Ankyrin_B_Syndrome.yaml 77.2% 78.0% 112/145
Rheumatoid_Arthritis.yaml 77.3% 77.9% 265/343 4
Cardiofaciocutaneous_Syndrome.yaml 77.3% 82.5% 51/66
Gorham-Stout_disease.yaml 77.4% 80.6% 41/53 1
Crouzon_Syndrome.yaml 77.5% 83.9% 55/71
Congenital_Zika_Syndrome.yaml 77.5% 81.4% 69/89 2
Crouzon_Syndrome_with_Acanthosis_Nigricans.yaml 77.5% 82.1% 69/89
GNAS-related_pituitary_adenoma_3.yaml 77.6% 83.2% 59/76
Autosomal_Recessive_Primary_Microcephaly.yaml 77.7% 80.8% 73/94 1
Classic_Familial_Adenomatous_Polyposis.yaml 77.7% 85.5% 164/211
Diamond-Blackfan_Anemia.yaml 77.8% 80.4% 84/108
Urticaria.yaml 77.8% 88.0% 7/9
IgA_Nephropathy.yaml 77.9% 82.6% 134/172
TUBB_TUBB5-related_Microcephaly.yaml 77.9% 81.7% 67/86 2
BEST1_Bestrophinopathies.yaml 78.0% 81.8% 71/91
Warsaw_breakage_syndrome.yaml 78.0% 80.2% 64/82
Ulcerative_Colitis.yaml 78.1% 79.2% 146/187 1
KIT_Mutant_Melanoma.yaml 78.1% 80.1% 75/96 1
Proteus_syndrome.yaml 78.2% 86.4% 122/156
KATNB1-related_Cortical_Malformation.yaml 78.3% 81.8% 90/115 2
Primary_Ciliary_Dyskinesia.yaml 78.4% 84.6% 239/305
ATTR_Amyloidosis.yaml 78.4% 77.2% 207/264 2
Jeune_Asphyxiating_Thoracic_Dystrophy.yaml 78.5% 84.2% 106/135
Metastatic_HCC.yaml 78.6% 84.2% 77/98
Parkinsons_Disease.yaml 78.6% 81.1% 286/364 2
TUBA1A-related_Tubulinopathy.yaml 78.9% 81.2% 60/76 2
HIDEA_Syndrome.yaml 79.1% 83.0% 53/67 2
Juvenile_Sialidosis_Type_2.yaml 79.1% 87.4% 53/67
Short-Rib_Polydactyly_Syndrome.yaml 79.1% 86.8% 91/115
Arteriosclerotic_Retinopathy.yaml 79.2% 78.7% 57/72 2
Inherited_Aplastic_Anemia.yaml 79.2% 82.2% 118/149
Trachoma.yaml 79.3% 80.3% 23/29
Guanidinoacetate_Methyltransferase_Deficiency.yaml 79.3% 81.1% 142/179
Pycnodysostosis.yaml 79.4% 86.8% 123/155
Homocystinuria.yaml 79.4% 85.9% 323/407
Cervical_Adenocarcinoma.yaml 79.4% 82.5% 50/63
Delpire-McNeill_Syndrome.yaml 79.4% 82.7% 81/102
SHH_Holoprosencephaly_Spectrum.yaml 79.4% 82.1% 54/68
Achoo_Syndrome.yaml 79.5% 86.6% 70/88
H3_K27_Altered_Diffuse_Midline_Glioma.yaml 79.6% 80.7% 74/93 1
Autosomal_Dominant_Polycystic_Kidney_Disease.yaml 79.6% 87.4% 156/196
Myoclonus_Dystonia_Syndrome.yaml 79.6% 81.4% 117/147
Plague.yaml 79.6% 83.0% 82/103
Shprintzen-Goldberg_Syndrome.yaml 79.7% 84.0% 47/59
Neuromyelitis_Optica_Spectrum_Disorder_with_Anti-AQP4_Antibodies.yaml 79.7% 81.0% 114/143 1
Moyamoya_Disease.yaml 79.7% 82.9% 63/79 2
pseudotumor_cerebri.yaml 79.8% 81.4% 87/109 1
Graves_Disease.yaml 79.8% 85.1% 202/253 2
5-Oxoprolinase_Deficiency.yaml 79.9% 86.4% 131/164
Porphyria_due_to_ALA_Dehydratase_Deficiency.yaml 79.9% 85.7% 159/199
Multiple_Sulfatase_Deficiency.yaml 79.9% 80.9% 195/244
Crohn_Disease.yaml 80.0% 79.9% 296/370 4
MED13_Syndrome.yaml 80.0% 80.9% 88/110 2
Multiple_Synostoses_Syndrome.yaml 80.0% 83.4% 40/50
NPM1_Mutant_AML.yaml 80.0% 81.6% 72/90 1
Twin_to_Twin_Transfusion_Syndrome.yaml 80.0% 81.3% 84/105
Thanatophoric_Dysplasia_Type_1.yaml 80.1% 81.6% 157/196
Arsenic_Poisoning.yaml 80.3% 81.7% 216/269 1
Gout.yaml 80.3% 82.4% 94/117
Bladder_Urothelial_Carcinoma.yaml 80.5% 84.3% 70/87
Cholangiocarcinoma.yaml 80.5% 83.1% 66/82
ALDH18A1_De_Barsy_Spectrum.yaml 80.6% 81.6% 145/180
Melanoma_in_Congenital_Melanocytic_Nevus.yaml 80.6% 79.9% 112/139 2
Sclerosing_Cholangitis.yaml 80.6% 82.5% 129/160
Metastatic_Breast_Carcinoma.yaml 80.6% 82.2% 75/93 1
angioosteohypertrophic_syndrome.yaml 80.7% 83.6% 46/57
NDE1-related_Microcephaly_Lissencephaly.yaml 80.7% 83.9% 88/109 2
Amyotrophic_Lateral_Sclerosis.yaml 80.8% 86.6% 328/406 1
Minimal_Change_Disease.yaml 80.8% 82.6% 156/193
capillary_leak_syndrome.yaml 80.9% 81.9% 38/47 1
NRAS_Mutant_Melanoma.yaml 80.9% 82.2% 72/89 2
Multiple_Mitochondrial_Dysfunctions_Syndrome_9B.yaml 81.0% 81.9% 204/252
Scurvy.yaml 81.0% 81.2% 34/42 1
Gorlin_Syndrome.yaml 81.0% 82.2% 260/321 1
Terminal_Osseous_Dysplasia.yaml 81.0% 87.4% 64/79
Dacryocystitis-Osteopoikilosis_Syndrome.yaml 81.1% 83.4% 77/95 1
Peeling_Skin_Syndrome.yaml 81.1% 83.4% 107/132
Furunculosis.yaml 81.2% 88.8% 95/117
Ebola_Virus_Disease_EVD.yaml 81.2% 80.2% 134/165 2
COX18-Related_COX_Deficiency.yaml 81.2% 85.4% 26/32
Inherited_Retinal_Dystrophy.yaml 81.2% 84.6% 78/96 1
Human_African_Trypanosomiasis.yaml 81.4% 80.6% 48/59
Alpha_Thalassemia.yaml 81.4% 85.0% 105/129
Peroxisome_Biogenesis_Disorder.yaml 81.5% 80.5% 224/275 2
Lenz-Majewski_hyperostotic_dwarfism.yaml 81.5% 87.1% 110/135
Retinal_Arterial_Tortuosity.yaml 81.5% 83.3% 66/81
Hand_Foot_and_Mouth_Disease.yaml 81.5% 88.0% 172/211
Spinal_Muscular_Atrophy.yaml 81.5% 83.8% 181/222 3
Chemotherapy_Induced_Diarrhea.yaml 81.6% 82.6% 151/185
BRAF_V600E_Mutant_Colorectal_Cancer.yaml 81.7% 81.1% 156/191 1
Jackson-Weiss_Syndrome.yaml 81.7% 86.5% 58/71
Neuronal_Ceroid_Lipofuscinosis.yaml 81.7% 88.0% 116/142
Peripartum_Cardiomyopathy.yaml 81.7% 85.1% 67/82
Dystrophic_Epidermolysis_Bullosa.yaml 81.7% 82.8% 215/263
Focal_Articular_Cartilage_Defect_of_the_Knee.yaml 81.8% 85.2% 54/66
TGFBI_Corneal_Dystrophies.yaml 81.8% 84.1% 63/77
Appendiceal_Neuroendocrine_Tumor.yaml 82.0% 85.8% 50/61
Krabbe_Disease_Due_To_Saposin_A_Deficiency.yaml 82.0% 86.4% 41/50
Skin_Fragility_Woolly_Hair_Syndrome.yaml 82.0% 85.7% 41/50
Amyotrophic_Lateral_Sclerosis-Parkinsonism-Dementia_Complex.yaml 82.1% 84.9% 32/39 1
Greig_Cephalopolysyndactyly.yaml 82.1% 85.0% 32/39
Giant_Cell_Hepatitis_With_Autoimmune_Hemolytic_Anemia.yaml 82.1% 84.7% 87/106
EML1_Ribbon_Heterotopia.yaml 82.1% 84.2% 78/95 2
Esophageal_Squamous_Cell_Carcinoma.yaml 82.2% 85.0% 106/129
Sickle_Cell_Disease.yaml 82.2% 83.9% 143/174
Primary_Carnitine_Deficiency.yaml 82.2% 83.6% 157/191
COL11A2_Hearing_Loss.yaml 82.2% 84.8% 37/45
Achondroplasia.yaml 82.3% 88.3% 167/203
Glycoprotein_Storage_Disease.yaml 82.4% 89.3% 42/51
Postural_Orthostatic_Tachycardia_Syndrome.yaml 82.4% 85.1% 112/136
Pelizaeus_Merzbacher_Disease.yaml 82.4% 84.8% 183/222
Mowat-Wilson_syndrome.yaml 82.5% 85.2% 47/57
Castleman_Disease.yaml 82.5% 85.4% 80/97 1
Autosomal_Recessive_Congenital_Ichthyosis.yaml 82.5% 85.9% 132/160
SUFU-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml 82.5% 87.9% 66/80
Solitary_Fibrous_Tumor.yaml 82.5% 85.2% 66/80
Stankiewicz_Isidor_syndrome.yaml 82.5% 84.6% 66/80
Isovaleric_Acidemia.yaml 82.5% 87.8% 203/246
Fallopian_Tube_Cancer.yaml 82.6% 85.8% 57/69
You-Hoover-Fong_Syndrome.yaml 82.6% 88.0% 38/46
Tay-Sachs_Disease.yaml 82.6% 84.2% 200/242
CTCF-related_Neurodevelopmental_Disorder.yaml 82.7% 85.3% 124/150
Autosomal_Dominant_Striatal_Neurodegeneration.yaml 82.8% 83.8% 77/93
Medullary_Thyroid_Carcinoma.yaml 82.8% 85.4% 77/93 1
BRAF_V600E_Mutant_NSCLC.yaml 82.8% 82.6% 130/157 1
Bulimia_Nervosa.yaml 82.8% 85.1% 53/64
Familial_Hypercholesterolemia.yaml 82.9% 87.5% 319/385
Celiac_Disease.yaml 82.9% 84.6% 126/152
Arthrogryposis_Multiplex_Congenita.yaml 83.0% 85.3% 73/88
Glucose-6-Phosphate_Dehydrogenase_G6PD_Deficiency.yaml 83.0% 84.7% 127/153
Oroya_Fever.yaml 83.0% 84.1% 93/112
Hereditary_Breast_and_Ovarian_Cancer_Syndrome.yaml 83.1% 83.2% 108/130 1
Osteopetrosis.yaml 83.1% 86.4% 108/130
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
Angiosarcoma.yaml 83.3% 84.2% 120/144
Dyskeratosis_Congenita.yaml 83.3% 84.9% 240/288
PTEN_Hamartoma_Tumor_Syndrome.yaml 83.3% 85.3% 115/138
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
TUBB2A_TUBB2B-related_Cortical_Malformation.yaml 83.5% 85.4% 91/109 2
Hypophosphatasia.yaml 83.5% 85.9% 152/182
Monkeypox.yaml 83.5% 83.2% 152/182 2
Acrodysostosis.yaml 83.5% 84.8% 71/85
Bejel.yaml 83.5% 85.5% 66/79
Acoustic_Neuroma.yaml 83.6% 85.0% 92/110
Acute_Myeloid_Leukemia_with_CEBPA_Somatic_Mutations.yaml 83.6% 87.1% 92/110
Ainhum.yaml 83.6% 89.9% 46/55
Subacute_Inflammatory_Demyelinating_Polyneuropathy.yaml 83.6% 85.8% 46/55 1
Esophageal_Atresia.yaml 83.7% 88.7% 128/153
Hao-Fountain_syndrome.yaml 83.7% 86.2% 41/49
Nestor-Guillermo_progeria_syndrome.yaml 83.7% 86.2% 36/43
Rabies.yaml 83.7% 84.3% 36/43
Triglyceride_Storage_Disease_Type_2.yaml 83.8% 89.4% 31/37
Eosinophilic_Granulomatosis_with_Polyangiitis.yaml 83.8% 89.1% 140/167
Dermatofibrosarcoma_Protuberans.yaml 83.9% 84.7% 47/56 2
Hand-Foot-Genital_Syndrome.yaml 83.9% 86.0% 47/56
Autosomal_Recessive_Dopa_Responsive_Dystonia.yaml 84.0% 85.6% 173/206
Klinefelter_Syndrome.yaml 84.0% 84.7% 121/144 1
GPR101-related_pituitary_adenoma_2.yaml 84.0% 87.5% 79/94
Temple-Baraitser_Syndrome.yaml 84.0% 86.6% 137/163
Esophageal_Carcinoma.yaml 84.1% 86.0% 74/88
Asthma.yaml 84.1% 83.3% 291/346 4
GM1_Gangliosidosis_Type_1.yaml 84.1% 89.2% 53/63
Congenital_Adrenal_Hyperplasia.yaml 84.1% 86.4% 122/145
NR5A1_Related_Sex_Development_Disorder.yaml 84.3% 86.6% 91/108
Neurofibromatosis_Type_1.yaml 84.3% 86.3% 150/178
Hypereosinophilic_Syndrome.yaml 84.3% 87.1% 129/153
Pantothenate_Kinase-Associated_Neurodegeneration.yaml 84.3% 86.1% 86/102
Rett_Syndrome.yaml 84.3% 85.9% 172/204
Basal_Cell_Carcinoma.yaml 84.3% 86.0% 226/268 1
Familial_Thoracic_Aortic_Aneurysm_and_Aortic_Dissection.yaml 84.3% 85.9% 97/115 1
Generalized_Epilepsy_with_Febrile_Seizures_Plus.yaml 84.4% 86.0% 108/128
Small_Intestinal_Bacterial_Overgrowth.yaml 84.4% 86.7% 65/77
USP8-related_pituitary_adenoma_4.yaml 84.4% 88.1% 76/90
Labyrinthitis.yaml 84.5% 86.9% 185/219 1
Niemann_Pick_Disease_Type_C.yaml 84.5% 86.0% 207/245
Rhabdoid_Tumor.yaml 84.5% 87.3% 71/84
Infantile_Hypercalcemia.yaml 84.6% 88.5% 208/246
Ehlers-Danlos_Syndrome_COL5A1-related.yaml 84.6% 85.2% 110/130
Taurodontism.yaml 84.7% 90.1% 116/137
Schwannomatosis.yaml 84.7% 86.6% 83/98 1
Fibrodysplasia_Ossificans_Progressiva.yaml 84.7% 88.7% 122/144
CHIME_syndrome.yaml 84.7% 88.0% 50/59
Synovial_Sarcoma.yaml 84.8% 85.3% 78/92 1
Baraitser-Winter_Cerebrofrontofacial_Syndrome.yaml 84.8% 87.2% 106/125 2
Multisystem_Inflammatory_Syndrome_in_Children_MIS-C.yaml 84.8% 85.6% 173/204 1
Angelman_Syndrome.yaml 84.8% 86.2% 397/468
Cogan_Syndrome.yaml 84.8% 85.9% 168/198
Holt-Oram_Syndrome.yaml 84.9% 86.3% 118/139 2
erythromelalgia.yaml 84.9% 86.8% 45/53
Dupuytrens_Contracture.yaml 85.0% 86.0% 68/80 1
Peutz_Jeghers_polyp.yaml 85.0% 88.1% 136/160
Embryonal_Rhabdomyosarcoma.yaml 85.1% 88.0% 57/67
Dementia_with_Lewy_Bodies.yaml 85.1% 87.4% 40/47
Wissler_syndrome.yaml 85.1% 87.4% 160/188
Alzheimer_Disease.yaml 85.1% 82.2% 292/343 6
Malignant_Atrophic_Papulosis.yaml 85.1% 86.8% 63/74
ADan_amyloidosis.yaml 85.2% 86.0% 132/155
COX15-Related_COX_Deficiency.yaml 85.2% 89.3% 23/27
Tall_Stature-Intellectual_Disability-Renal_Anomalies_Syndrome.yaml 85.2% 87.1% 69/81
Nevus_of_Ota.yaml 85.3% 87.8% 58/68
Borderline_Personality_Disorder.yaml 85.3% 86.9% 64/75
Erdheim-Chester_Disease.yaml 85.4% 89.4% 35/41
3-Hydroxy-3-Methylglutaric_Aciduria.yaml 85.4% 86.2% 234/274
Pemphigus_Erythematosus.yaml 85.4% 87.2% 41/48
Leigh_Syndrome.yaml 85.4% 87.8% 129/151
Muenke_Syndrome.yaml 85.5% 88.8% 47/55
Spasticity-Ataxia-Gait_Anomalies_Syndrome.yaml 85.5% 88.4% 59/69
Aromatic_L_Amino_Acid_Decarboxylase_Deficiency.yaml 85.6% 86.4% 261/305
Viral_Hemorrhagic_Fever.yaml 85.6% 87.7% 101/118
Ehlers-Danlos_Syndrome.yaml 85.6% 84.9% 214/250 1
Buruli_Ulcer.yaml 85.7% 86.5% 36/42
CDH23-associated_pituitary_adenoma_5.yaml 85.7% 89.0% 24/28
Biotinidase_Deficiency.yaml 85.8% 90.7% 229/267
RET_Rearranged_NSCLC.yaml 85.8% 85.3% 163/190 1
Maple_Syrup_Urine_Disease.yaml 85.8% 90.6% 272/317
Glutaryl-CoA_Dehydrogenase_Deficiency.yaml 85.9% 89.2% 189/220
Brachydactyly_Type_A1.yaml 85.9% 91.1% 61/71
Cori_Forbes_Disease.yaml 85.9% 87.6% 116/135
Thymic_Carcinoma.yaml 86.0% 88.4% 104/121
ALDH18A1_Cutis_Laxa.yaml 86.0% 86.7% 129/150
SURF1-Related_Leigh_Syndrome.yaml 86.0% 88.1% 43/50 1
X-Linked_Hypophosphatemia.yaml 86.0% 88.6% 86/100
GM1_Gangliosidosis_Type_3.yaml 86.0% 91.9% 37/43
Neutral_Lipid_Storage_Myopathy.yaml 86.0% 90.1% 37/43
Tatton-Brown-Rahman_overgrowth_syndrome.yaml 86.0% 88.5% 37/43
COPA_Syndrome.yaml 86.1% 87.4% 179/208
COX6B1-Related_COX_Deficiency.yaml 86.1% 89.5% 31/36
Urea_Cycle_Disorder.yaml 86.1% 86.6% 217/252 1
Floating-Harbor_syndrome.yaml 86.2% 88.7% 56/65
Myasthenia_Gravis.yaml 86.2% 87.8% 187/217
Coffin-Lowry_Syndrome.yaml 86.2% 87.0% 50/58
PIK3CA_Mutant_Breast_Cancer.yaml 86.2% 90.2% 50/58
Argininosuccinic_Aciduria.yaml 86.3% 86.8% 220/255
Spinal_Muscular_Atrophy_Progressive_Myoclonic_Epilepsy.yaml 86.3% 91.1% 44/51
Chronic_Pancreatitis.yaml 86.3% 86.3% 63/73 1
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
Panuveitis.yaml 86.4% 87.6% 76/88 1
Postcricoid_Region_Cancer.yaml 86.4% 87.0% 76/88 1
Adult_Onset_Dystonia_Parkinsonism.yaml 86.4% 87.9% 184/213
BRAF_V600_Mutant_Melanoma.yaml 86.5% 86.2% 198/229 1
15q11q13_Microduplication_Syndrome.yaml 86.5% 87.9% 128/148
Capillary_Malformation-Arteriovenous_Malformation_Syndrome.yaml 86.5% 90.2% 64/74
Coronary_Artery_Congenital_Malformation.yaml 86.5% 89.1% 96/111
SCO1-Related_COX_Deficiency.yaml 86.5% 90.0% 32/37
Ulnar-Mammary_Syndrome.yaml 86.5% 87.5% 192/222
Cockayne_Syndrome.yaml 86.5% 90.3% 231/267
Succinic_Semialdehyde_Dehydrogenase_Deficiency.yaml 86.5% 90.9% 193/223
neuroferritinopathy.yaml 86.6% 87.9% 71/82
Nephronophthisis.yaml 86.6% 85.6% 155/179 1
Multicentric_Castleman_Disease.yaml 86.6% 88.0% 84/97
Congestive_Splenomegaly.yaml 86.7% 90.2% 78/90
Dyslexia.yaml 86.7% 89.3% 52/60
Heyn-Sproul-Jackson_syndrome.yaml 86.7% 89.1% 39/45
Long-Chain_3-Hydroxyacyl-CoA_Dehydrogenase_Deficiency.yaml 86.7% 88.0% 182/210
SCO2-Related_Fatal_Infantile_Cardioencephalomyopathy.yaml 86.7% 90.5% 26/30
Heritable_Pulmonary_Arterial_Hypertension.yaml 86.8% 87.5% 177/204 3
STAG3-related_gametogenic_failure.yaml 86.8% 88.5% 59/68
Addisons_Disease.yaml 86.8% 85.8% 164/189 2
Esophageal_Adenocarcinoma.yaml 86.8% 89.8% 105/121
Autosomal_Dominant_Osteopetrosis_Type_II.yaml 86.8% 91.1% 92/106
Kummell_Disease.yaml 86.8% 87.9% 112/129 1
Paroxysmal_Familial_Ventricular_Fibrillation.yaml 86.8% 90.7% 66/76
MALT_Lymphoma.yaml 86.9% 89.8% 53/61
Alstrom_Syndrome.yaml 87.0% 89.1% 100/115
Narcolepsy-Cataplexy_Syndrome.yaml 87.0% 88.5% 80/92
Vitiligo.yaml 87.0% 88.0% 167/192 3
Multiple_Myeloma.yaml 87.0% 89.1% 107/123 1
Ellis-van_Creveld_Syndrome.yaml 87.0% 92.1% 87/100
Dieulafoy_Lesion.yaml 87.0% 88.3% 47/54
Dorfman_Chanarin_Disease.yaml 87.0% 92.6% 47/54
COX10-Related_COX_Deficiency.yaml 87.1% 90.7% 27/31
Timothy_Syndrome.yaml 87.1% 89.4% 81/93
Arginase_Deficiency.yaml 87.1% 87.5% 223/256
Autosomal_Recessive_Osteopetrosis.yaml 87.1% 90.5% 115/132 1
Marfan_Syndrome.yaml 87.1% 86.6% 230/264 2
Charcot-Marie-Tooth_Disease_Type_1.yaml 87.1% 89.9% 61/70
Chromoblastomycosis.yaml 87.2% 88.2% 34/39
Primary_Triglyceride_Deposit_Cardiomyovasculopathy.yaml 87.2% 91.0% 34/39
3-Hydroxyisobutyryl-CoA_Hydrolase_Deficiency.yaml 87.2% 88.1% 143/164
ARX-Related_Lissencephaly_and_Interneuronopathy.yaml 87.2% 89.8% 82/94
Koolen_de_Vries_syndrome.yaml 87.3% 89.5% 62/71
Tyrosinemia_Type_I.yaml 87.3% 91.8% 214/245
Undetermined_Early_Onset_Epileptic_Encephalopathy.yaml 87.4% 89.1% 83/95
McKusick-Kaufman_Syndrome.yaml 87.4% 88.9% 90/103
Migraine.yaml 87.4% 89.4% 111/127
Long_QT_Syndrome.yaml 87.4% 89.1% 188/215
Clear_Cell_Ovarian_Carcinoma.yaml 87.5% 89.7% 56/64
Dorsalgia.yaml 87.5% 100.0% 7/8
Lichen_Simplex_Chronicus.yaml 87.5% 100.0% 7/8
Lysosomal_Acid_Phosphatase_Deficiency.yaml 87.5% 91.8% 21/24
PTCH1-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml 87.5% 90.7% 77/88
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
Central_Core_Myopathy.yaml 87.6% 89.1% 176/201
Classic_Hodgkin_Lymphoma.yaml 87.6% 89.7% 99/113
Dissociative_Identity_Disorder.yaml 87.7% 89.5% 64/73
Phelan-McDermid_Syndrome.yaml 87.7% 88.8% 64/73 1
Fanconi_Anemia.yaml 87.7% 88.7% 765/872
Hypertensive_Heart_Disease.yaml 87.7% 87.2% 179/204 2
Chikungunya.yaml 87.8% 88.6% 43/49
DeSanto-Shinawi_Syndrome.yaml 87.8% 88.2% 43/49
Mesial_Temporal_Lobe_Epilepsy_with_Hippocampal_Sclerosis.yaml 87.8% 89.8% 43/49
Bazex_Dupre_Christol_Syndrome.yaml 87.8% 89.1% 108/123
TACO1-Related_COX_Deficiency.yaml 87.8% 91.0% 36/41
Beta_Mannosidosis.yaml 87.8% 89.2% 101/115
Fragile_X-Associated_Tremor_Ataxia_Syndrome.yaml 87.8% 89.9% 130/148
Wilms_Tumor.yaml 87.8% 89.6% 195/222 1
Auditory_Neuropathy.yaml 87.9% 89.5% 94/107
COX11-Related_COX_Deficiency.yaml 87.9% 90.7% 29/33
Chronic_Inflammatory_Demyelinating_Polyneuropathy.yaml 87.9% 90.0% 58/66
Schizophrenia.yaml 87.9% 86.0% 189/215 4
Prostate_Adenocarcinoma.yaml 88.0% 89.6% 73/83 1
Anal_Canal_Carcinoma.yaml 88.0% 90.9% 88/100
Cutaneous_Collagenous_Vasculopathy.yaml 88.0% 84.3% 44/50 3
Ischemic_Stroke.yaml 88.0% 90.8% 66/75
Mobitz_Type_I_Atrioventricular_Block.yaml 88.0% 89.1% 44/50 1
Morgagni-Stewart-Morel_Syndrome.yaml 88.0% 88.7% 132/150
Boutonneuse_Fever.yaml 88.0% 89.3% 169/192
Primary_Progressive_Apraxia_of_Speech.yaml 88.1% 90.6% 37/42
TUBB3-related_Tubulinopathy.yaml 88.1% 90.5% 74/84
ZTTK_syndrome.yaml 88.1% 90.6% 37/42
Cernunnos-XLF_deficiency.yaml 88.1% 90.6% 52/59
Pontiac_Fever.yaml 88.2% 88.5% 97/110
BRCA_Mutant_Prostate_Cancer.yaml 88.2% 88.0% 180/204 1
DK1-congenital_disorder_of_glycosylation.yaml 88.2% 89.2% 135/153
Mucolipidosis_Type_II.yaml 88.2% 92.5% 60/68
Wolf-Hirschhorn_Syndrome.yaml 88.2% 89.5% 195/221
46_XY_complete_gonadal_dysgenesis.yaml 88.3% 89.3% 128/145
Acute_Motor_and_Sensory_Axonal_Neuropathy.yaml 88.3% 90.4% 83/94
Chronic_Obstructive_Pulmonary_Disease.yaml 88.3% 88.3% 227/257 1
Bloom_Syndrome.yaml 88.3% 90.5% 53/60
Borjeson-Forssman-Lehmann_syndrome.yaml 88.3% 90.8% 53/60
COL11A2_Skeletal_Spectrum.yaml 88.3% 90.0% 91/103
Opitz_GBBB_Syndrome.yaml 88.3% 90.3% 91/103
COX20-Related_COX_Deficiency.yaml 88.4% 91.1% 38/43
Osteogenesis_Imperfecta_Type_I.yaml 88.4% 92.8% 76/86
Hereditary_Spherocytosis.yaml 88.4% 90.1% 160/181
Posterior_Myocardial_Infarction.yaml 88.4% 87.8% 61/69 1
Huppke-Brendel_syndrome.yaml 88.4% 89.8% 84/95
COA8-Related_COX_Deficiency.yaml 88.5% 91.3% 46/52
Dysembryoplastic_Neuroepithelial_Tumor.yaml 88.5% 89.5% 69/78 2
Idiopathic_Pulmonary_Fibrosis.yaml 88.5% 90.2% 100/113
Transient_Neonatal_Pustular_Melanosis.yaml 88.5% 90.0% 77/87
Frias_Syndrome.yaml 88.5% 90.5% 108/122
HROB-related_gametogenic_failure.yaml 88.5% 90.4% 54/61
EGFR_Mutant_NSCLC.yaml 88.5% 88.4% 201/227
CN_Related_DEE.yaml 88.6% 90.5% 93/105 1
Hereditary_von_Willebrand_Disease.yaml 88.6% 93.8% 31/35
Thymoma.yaml 88.6% 90.7% 93/105
Aggressive_NK-cell_Leukemia.yaml 88.6% 89.5% 109/123 1
IgA_Vasculitis.yaml 88.6% 90.7% 109/123
Papular_Xanthoma.yaml 88.6% 90.2% 39/44
Myalgic_Encephalomyelitis_Chronic_Fatigue_Syndrome.yaml 88.7% 91.9% 125/141 1
Schinzel-Giedion_Syndrome.yaml 88.7% 88.8% 47/53
Silent_Sinus_Syndrome.yaml 88.7% 89.7% 118/133
Leiomyosarcoma.yaml 88.7% 91.6% 63/71
EAST_Syndrome.yaml 88.8% 90.8% 79/89
Hypochondrogenesis.yaml 88.8% 91.2% 111/125
Pseudohypoparathyroidism.yaml 88.8% 90.7% 119/134
Hemophilia_B.yaml 88.9% 94.6% 24/27
Sezary_Syndrome.yaml 88.9% 90.8% 96/108
2q37_Microdeletion_Syndrome.yaml 89.0% 90.5% 137/154
PRPS1_Superactivity.yaml 89.0% 89.7% 121/136
Hantavirus_Pulmonary_Syndrome.yaml 89.0% 90.5% 97/109
Duchenne_Muscular_Dystrophy.yaml 89.0% 90.4% 267/300 3
Short_QT_Syndrome.yaml 89.0% 90.7% 89/100
Squamous_Cell_Carcinoma_of_Penis.yaml 89.0% 89.3% 81/91 1
MYO6_Hearing_Loss.yaml 89.0% 90.4% 65/73
GM1_Gangliosidosis_Type_2.yaml 89.1% 92.8% 57/64
2-Methylbutyryl-CoA_Dehydrogenase_Deficiency.yaml 89.1% 89.0% 204/229
Cerebral_Amyloid_Angiopathy.yaml 89.1% 91.0% 90/101
MHC_Class_II_Deficiency.yaml 89.1% 90.6% 180/202
Marchiafava_Bignami_Disease.yaml 89.1% 90.4% 90/101
Combined_Saposin_Deficiency.yaml 89.1% 91.9% 41/46
Malignant_Non_Dysgerminomatous_Germ_Cell_Tumor_Of_Ovary.yaml 89.1% 88.9% 115/129 1
Juvenile_Myelomonocytic_Leukemia.yaml 89.2% 90.2% 99/111
Arterial_Calcification_of_Infancy.yaml 89.2% 89.0% 157/176 1
Babesiosis.yaml 89.2% 90.5% 124/139
Peutz_Jeghers_Syndrome.yaml 89.2% 91.0% 149/167
Dravet_syndrome.yaml 89.3% 90.8% 233/261
Brugada_Syndrome.yaml 89.3% 92.5% 75/84
Chagas_Disease.yaml 89.3% 89.8% 50/56
Dentici-Novelli_neurodevelopmental_syndrome.yaml 89.3% 91.1% 75/84
Visceral_Heterotaxy.yaml 89.3% 91.6% 50/56
Osteogenesis_Imperfecta_Type_II.yaml 89.3% 92.7% 92/103 1
Ectodermal_Dysplasia_and_Immunodeficiency_2.yaml 89.4% 91.3% 84/94
Junctional_Epidermolysis_Bullosa.yaml 89.4% 90.4% 169/189
Familial_Congenital_Mirror_Movements.yaml 89.4% 91.0% 93/104
Chronic_Traumatic_Encephalopathy.yaml 89.5% 92.9% 34/38
Nijmegen_breakage_syndrome.yaml 89.5% 91.4% 51/57
Temtamy_Preaxial_Brachydactyly_Syndrome.yaml 89.5% 93.7% 119/133
PHARC_syndrome.yaml 89.5% 90.3% 94/105 1
Wiskott_Aldrich_Syndrome.yaml 89.5% 91.1% 171/191
Acquired_Angioedema.yaml 89.6% 91.1% 86/96
Autosomal_Recessive_Ataxia_Due_to_Ubiquinone_Deficiency.yaml 89.6% 89.9% 155/173
Hereditary_Hemorrhagic_Telangiectasia.yaml 89.6% 91.0% 155/173
Primary_Polyarteritis_Nodosa.yaml 89.6% 88.8% 69/77 3
Hereditary_Elliptocytosis.yaml 89.6% 90.7% 164/183
Systemic_Lupus_Erythematosus.yaml 89.6% 88.7% 389/434 4
Niemann-Pick_Disease_Type_B.yaml 89.7% 92.3% 52/58
Seckel_Syndrome.yaml 89.7% 91.5% 78/87
Temporal_Lobe_Epilepsy.yaml 89.7% 93.7% 26/29
MCM8-related_gametogenic_failure.yaml 89.7% 91.1% 87/97
Vitamin_K_Dependent_Coagulation_Factor_Deficiency.yaml 89.7% 91.8% 87/97
Dental_Caries.yaml 89.7% 91.2% 61/68
Oculogastrointestinal-Neurodevelopmental_Syndrome.yaml 89.7% 92.1% 61/68
Donnai-Barrow_syndrome.yaml 89.8% 91.6% 114/127
WAGR_Syndrome.yaml 89.8% 91.3% 114/127
Malaria.yaml 89.8% 91.2% 158/176 1
Sea-Blue_Histiocyte_Syndrome.yaml 89.8% 91.4% 79/88
Camurati-Engelmann_Disease.yaml 89.8% 91.6% 123/137
Cadmium_Poisoning.yaml 89.8% 90.3% 256/285 1
Juvenile_Temporal_Arteritis.yaml 89.8% 89.1% 53/59 2
NARP_syndrome.yaml 89.8% 90.2% 106/118 1
ADGRG1_Bilateral_Frontoparietal_Polymicrogyria.yaml 89.9% 92.3% 62/69
Multiple_Sclerosis.yaml 89.9% 90.2% 248/276
Carotid_Artery_Occlusion.yaml 89.9% 91.8% 71/79 1
Fallopian_Tube_Benign_Neoplasm.yaml 89.9% 90.1% 80/89 1
Aicardi_Goutieres_Syndrome.yaml 89.9% 90.6% 250/278
YWHAG_Syndrome.yaml 89.9% 91.3% 134/149
Acquired_Immunodeficiency_Syndrome.yaml 89.9% 90.1% 152/169
CINCA_Syndrome.yaml 90.0% 91.6% 188/209 1
Glanders.yaml 90.0% 91.0% 54/60
MCM9-related_gametogenic_failure.yaml 90.0% 92.1% 90/100
Malnutrition-related_Diabetes_Mellitus.yaml 90.0% 100.0% 9/10
Manganism.yaml 90.0% 94.7% 18/20
Mycetoma.yaml 90.0% 92.9% 72/80
SADDAN.yaml 90.0% 93.3% 54/60
Free_Sialic_Acid_Storage_Disease.yaml 90.0% 90.7% 181/201
Neuronal_Ceroid_Lipofuscinosis_7.yaml 90.1% 90.8% 118/131 1
Autoimmune_Polyendocrinopathy.yaml 90.1% 92.1% 91/101
Common_Variable_Immunodeficiency.yaml 90.1% 92.4% 82/91
NELABA.yaml 90.1% 91.3% 155/172
Hereditary_Arterial_and_Articular_Multiple_Calcification_Syndrome.yaml 90.1% 92.3% 73/81 1
Auriculocondylar_Syndrome.yaml 90.1% 90.2% 128/142 1
Essential_Hypertension.yaml 90.1% 91.5% 64/71
B-Lymphoblastic_Leukemia_Lymphoma_With_Recurrent_Genetic_Abnormality.yaml 90.2% 91.2% 119/132
BBSome-Related_Retinitis_Pigmentosa.yaml 90.2% 92.5% 46/51
Pilarowski-Bjornsson_syndrome.yaml 90.2% 91.7% 92/102
Fuchs_Endothelial_Corneal_Dystrophy.yaml 90.2% 91.4% 148/164
SYCE1_Related_Gametogenic_Failure.yaml 90.3% 92.2% 65/72
Schwannoma.yaml 90.3% 91.9% 93/103
Spondylometaphyseal_Dysplasia_Kozlowski_Type.yaml 90.3% 93.6% 121/134
Carney-Stratakis_Syndrome.yaml 90.4% 91.2% 75/83
Hereditary_Angioedema.yaml 90.4% 91.1% 216/239
Metastatic_Pancreatic_Adenocarcinoma.yaml 90.4% 90.8% 66/73 1
Aland_Island_Eye_Disease.yaml 90.5% 92.2% 76/84
Fibrocartilaginous_Embolism.yaml 90.5% 89.6% 57/63 1
Ullrich_Congenital_Muscular_Dystrophy.yaml 90.5% 91.5% 219/242
Striate_Palmoplantar_Keratoderma_Type_2.yaml 90.5% 91.2% 143/158 1
Pacak-Zhuang_syndrome.yaml 90.5% 92.1% 67/74
TARP_syndrome.yaml 90.5% 93.4% 67/74
Left_Ventricular_Noncompaction.yaml 90.6% 91.6% 115/127
Splenic_Artery_Aneurysm.yaml 90.6% 92.0% 96/106 1
Segmental_Arterial_Mediolysis.yaml 90.6% 89.7% 77/85 2
Adult_Polyglucosan_Body_Disease.yaml 90.6% 91.5% 183/202
Stromme_Syndrome.yaml 90.6% 91.6% 174/192
Epidermolysis_Bullosa_Simplex.yaml 90.7% 91.5% 146/161
Atrial_Standstill.yaml 90.7% 92.2% 117/129
Inherited_Porphyria.yaml 90.7% 91.4% 215/237
Carotid_Stenosis.yaml 90.7% 93.2% 88/97 1
Citrin_Deficiency.yaml 90.7% 91.2% 196/216 1
Tay-Sachs_Disease_AB_Variant.yaml 90.7% 94.3% 49/54
X-Linked_Cerebral_Adrenoleukodystrophy.yaml 90.8% 92.6% 157/173
Lipoyl_Transferase_1_Deficiency.yaml 90.8% 92.0% 108/119
Huntington_Disease-like_2.yaml 90.8% 91.7% 69/76
EDARADD_Hypohidrotic_Ectodermal_Dysplasia.yaml 90.8% 92.5% 79/87
Cholera.yaml 90.9% 89.6% 298/328 1
Dental_Fluorosis.yaml 90.9% 93.2% 50/55
Endometrial_Endometrioid_Adenocarcinoma.yaml 90.9% 92.1% 120/132
Hypokalemic_Periodic_Paralysis.yaml 90.9% 93.4% 90/99
Lichtenstein-Knorr_Syndrome.yaml 90.9% 92.9% 60/66
Migraine_with_Aura.yaml 90.9% 91.9% 90/99
Prurigo_Nodularis.yaml 90.9% 100.0% 10/11
Empty_Nose_Syndrome.yaml 91.0% 91.2% 142/156 1
Patent_Ductus_Arteriosus.yaml 91.0% 93.4% 71/78
VCP-associated_Multisystem_Proteinopathy.yaml 91.0% 91.5% 142/156
Congenital_Dyserythropoietic_Anemia.yaml 91.1% 92.4% 163/179
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
Pick_Disease.yaml 91.1% 90.8% 133/146 1
Charlevoix-Saguenay_spastic_ataxia.yaml 91.1% 92.4% 123/135
Familial_Mediterranean_Fever.yaml 91.1% 90.3% 123/135 4
Hypertrophic_Cardiomyopathy.yaml 91.1% 90.9% 246/270 2
Narcolepsy.yaml 91.1% 92.2% 82/90
Sneddon_syndrome.yaml 91.1% 93.8% 41/45
Autoimmune_Enteropathy.yaml 91.1% 93.0% 113/124
X-linked_Hypohidrotic_Ectodermal_Dysplasia.yaml 91.1% 92.9% 113/124
Idiopathic_Triglyceride_Deposit_Cardiomyovasculopathy.yaml 91.2% 95.4% 31/34
Lyme_Disease.yaml 91.2% 92.5% 135/148
Pineoblastoma.yaml 91.3% 92.6% 94/103
Amniotic_Band_Syndrome.yaml 91.3% 92.6% 136/149
Acromesomelic_Dysplasia_Maroteaux_Type.yaml 91.3% 94.9% 105/115
Colon_Adenocarcinoma.yaml 91.3% 90.0% 21/23 1
MOGAD.yaml 91.3% 92.4% 126/138
Mucopolysaccharidosis.yaml 91.3% 92.8% 147/161
Niemann-Pick_Disease_Type_E.yaml 91.3% 95.6% 21/23
Peroxisomal_Acyl-CoA_Oxidase_Deficiency.yaml 91.3% 92.1% 168/184
Eosinophilic_Esophagitis.yaml 91.4% 93.2% 85/93
CKD-Mineral_Bone_Disorder.yaml 91.4% 92.7% 245/268
Alexander_Disease.yaml 91.4% 92.0% 203/222
Kilquist_Syndrome.yaml 91.5% 91.7% 107/117
Malignant_Peritoneal_Mesothelioma.yaml 91.5% 92.6% 107/117
Rhizomelic_Chondrodysplasia_Punctata_Plasmalogen_Synthesis_Defect.yaml 91.5% 94.1% 107/117
Lowe_Syndrome.yaml 91.5% 92.8% 86/94
Hereditary_Spastic_Paraplegia.yaml 91.5% 92.9% 140/153
IgG4-Related_Sclerosing_Cholangitis.yaml 91.6% 92.8% 87/95 1
Otomycosis.yaml 91.6% 91.5% 131/143 2
Charcot-Marie-Tooth_Disease_Type_2.yaml 91.6% 92.8% 153/167
Geleophysic_Dysplasia.yaml 91.6% 92.8% 175/191
GNPTG-Mucolipidosis.yaml 91.7% 95.4% 55/60
Gaucher_Disease.yaml 91.7% 91.4% 242/264 1
Inflammatory_Myofibroblastic_Tumor.yaml 91.7% 93.4% 88/96
MELAS_Syndrome.yaml 91.7% 93.2% 110/120
RYR2_CPVT.yaml 91.7% 93.7% 77/84
Arrhythmogenic_Right_Ventricular_Cardiomyopathy.yaml 91.7% 93.0% 122/133
Craniopharyngioma.yaml 91.7% 92.9% 122/133
22q11.2_Deletion_Syndrome.yaml 91.7% 94.0% 111/121
Vogt-Koyanagi-Harada_Disease.yaml 91.7% 93.4% 111/121
Osteogenesis_Imperfecta_Type_III.yaml 91.7% 95.4% 100/109
Deficiency_of_Adenosine_Deaminase_2.yaml 91.8% 93.6% 89/97
Lissencephaly_Spectrum_Disorders.yaml 91.8% 93.0% 156/170 2
Autosomal_Recessive_Cerebellar_Ataxia_With_Late_Onset_Spasticity.yaml 91.8% 94.5% 45/49
Non-functional_Pancreatic_Neuroendocrine_Tumor.yaml 91.9% 93.5% 79/86
Central_Nervous_System_Teratoma.yaml 91.9% 92.7% 113/123 1
Chordoma.yaml 91.9% 92.9% 113/123
Peripheral_T_Cell_Lymphoma.yaml 91.9% 92.8% 147/160
Aortitis.yaml 91.9% 91.8% 238/259 1
Pallister-Hall_Syndrome.yaml 91.9% 94.3% 68/74
Soil_Transmitted_Helminthiases.yaml 91.9% 92.3% 68/74
Vulvar_Adenocarcinoma.yaml 91.9% 93.0% 102/111
Endometrial_Carcinoma.yaml 91.9% 93.1% 171/186
Bosma_Arhinia_Microphthalmia_Syndrome.yaml 92.0% 93.1% 160/174
Antiphospholipid_Syndrome.yaml 92.0% 94.0% 310/337 1
Parenti-Mignot_Neurodevelopmental_Syndrome.yaml 92.0% 93.6% 92/100
Vulvar_Carcinoma.yaml 92.0% 92.4% 115/125 1
Dilated_Cardiomyopathy.yaml 92.1% 92.7% 220/239
Myopathy_Lactic_Acidosis_and_Sideroblastic_Anemia.yaml 92.1% 92.5% 244/265
Satoyoshi_Syndrome.yaml 92.2% 92.6% 165/179 1
Giardiasis.yaml 92.2% 94.2% 236/256
Niemann-Pick_Disease_Type_A.yaml 92.2% 94.2% 59/64
Post-Traumatic_Stress_Disorder.yaml 92.2% 90.1% 118/128 3
Proteasome_Associated_Autoinflammatory_Syndrome.yaml 92.2% 93.9% 59/64
Hereditary_Neuropathy_with_Liability_to_Pressure_Palsies.yaml 92.2% 93.9% 71/77
COFS_Syndrome.yaml 92.2% 93.4% 107/116
Benign_Familial_Infantile_Epilepsy.yaml 92.3% 94.0% 60/65
Botulism.yaml 92.3% 100.0% 12/13
Clouston_Syndrome.yaml 92.3% 93.6% 84/91
Cor_Pulmonale.yaml 92.3% 93.6% 72/78 1
Raynaud_Disease.yaml 92.3% 96.3% 84/91
Liddle_Syndrome.yaml 92.4% 93.4% 134/145
HSD10_Mitochondrial_Disease.yaml 92.5% 93.9% 98/106
STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml 92.5% 94.6% 49/53
Lathyrism.yaml 92.5% 93.8% 135/146
LRBA_Deficiency.yaml 92.5% 94.4% 86/93
Adams-Oliver_Syndrome.yaml 92.5% 93.5% 111/120
Gaucher_Disease_Due_To_Saposin_C_Deficiency.yaml 92.5% 95.2% 37/40
Triphalangeal_Thumb_Polysyndactyly.yaml 92.5% 94.8% 37/40
Cannabis_Hyperemesis_Syndrome.yaml 92.5% 93.7% 99/107
Mantle_Cell_Lymphoma.yaml 92.5% 93.9% 198/214
Primary_Hypertrophic_Osteoarthropathy.yaml 92.5% 93.9% 99/107
Social_Anxiety_Disorder.yaml 92.5% 89.7% 124/134 3
Alveolar_Soft_Part_Sarcoma.yaml 92.6% 93.8% 87/94
CHRNA1-associated_Fetal_Hypo-akinesia_Disorder_of_Prenatal_Onset.yaml 92.6% 95.0% 50/54
Meningeal_Melanocytoma.yaml 92.6% 93.5% 100/108 1
Taeniasis_Cysticercosis.yaml 92.6% 93.6% 50/54
CTLA4_Haploinsufficiency.yaml 92.6% 94.4% 63/68
CLOVES_Syndrome.yaml 92.7% 94.4% 164/177
Anaplastic_Large_Cell_Lymphoma.yaml 92.7% 93.8% 114/123
Progressive_Supranuclear_Palsy.yaml 92.7% 94.1% 140/151
Cryoglobulinemic_Vasculitis.yaml 92.8% 92.8% 90/97 2
Hepatic_Veno-occlusive_Disease-Immunodeficiency_Syndrome.yaml 92.8% 94.4% 90/97
EDAR_Hypohidrotic_Ectodermal_Dysplasia.yaml 92.8% 94.0% 116/125
ROS1_Rearranged_NSCLC.yaml 92.8% 93.4% 168/181
Meckel_Syndrome.yaml 92.8% 93.8% 194/209
Autosomal_Recessive_Multiple_Pterygium_Syndrome.yaml 92.9% 94.6% 78/84
Chemotherapy_Induced_Nausea_and_Vomiting.yaml 92.9% 94.2% 65/70
Congenital_Sialidosis_Type_2.yaml 92.9% 95.5% 39/42
Cough_Variant_Asthma.yaml 92.9% 94.5% 65/70
DOORS_Syndrome.yaml 92.9% 94.4% 91/98
Renpenning_syndrome.yaml 92.9% 94.7% 65/70
Achromatopsia.yaml 92.9% 93.6% 144/155
Lipoic_Acid_Synthetase_Deficiency.yaml 92.9% 94.3% 118/127
Non-Small_Cell_Lung_Cancer.yaml 92.9% 91.8% 184/198 2
Keipert_syndrome.yaml 93.0% 94.8% 66/71
46_XY_DSD_Due_to_17_Beta_Hydroxysteroid_Dehydrogenase_3_Deficiency.yaml 93.0% 93.7% 119/128
Amyloidosis.yaml 93.0% 95.1% 53/57
Rheumatoid_Vasculitis.yaml 93.0% 93.8% 106/114 2
Hidradenitis_Suppurativa.yaml 93.0% 94.3% 253/272
Parathyroid_Hyperplasia.yaml 93.0% 95.0% 107/115
Zimmermann_Laband_Syndrome.yaml 93.1% 94.3% 201/216
Bird_Fanciers_Lung.yaml 93.1% 94.8% 188/202 1
Cornelia_de_Lange_Syndrome.yaml 93.1% 94.0% 202/217
SMAD6-related_Craniosynostosis.yaml 93.1% 94.1% 81/87
Pulmonary_Hemosiderosis.yaml 93.1% 94.2% 176/189
Kindler_Epidermolysis_Bullosa.yaml 93.1% 93.7% 149/160
Isobutyryl-CoA_Dehydrogenase_Deficiency.yaml 93.1% 93.4% 190/204 1
Vertebral_Artery_Insufficiency.yaml 93.2% 94.5% 109/117
Coronary_Arterial_Fistulas.yaml 93.2% 94.0% 41/44 1
Coronary_Vasospasm.yaml 93.2% 94.7% 82/88
Ferguson-Bonni_Neurodevelopmental_Syndrome.yaml 93.2% 94.6% 137/147
Multiple_Epiphyseal_Dysplasia.yaml 93.2% 94.4% 137/147
Mitochondrial_Trifunctional_Protein_Deficiency.yaml 93.2% 93.4% 247/265 1
Oculodentodigital_Dysplasia.yaml 93.2% 94.5% 151/162
UNC13A_Congenital_NDD_with_Epilepsy.yaml 93.2% 94.4% 110/118
Conduct_Disorder.yaml 93.3% 92.7% 152/163 2
Chondrosarcoma.yaml 93.3% 95.2% 97/104
Choroid_Plexus_Carcinoma.yaml 93.3% 94.5% 97/104
Thomsen_and_Becker_disease.yaml 93.3% 93.9% 125/134 1
Agenesis_of_the_Corpus_Callosum_with_Peripheral_Neuropathy.yaml 93.3% 94.4% 140/150
Dracunculiasis.yaml 93.3% 92.9% 56/60 1
Mercury_Poisoning.yaml 93.3% 96.9% 28/30
Salla_Disease.yaml 93.3% 94.3% 154/165 1
Whipple_Disease.yaml 93.3% 94.5% 98/105
adrenoleukodystrophy.yaml 93.4% 94.6% 141/151
Adult-Onset_Autosomal_Dominant_Demyelinating_Leukodystrophy.yaml 93.4% 94.8% 85/91
Brachyolmia.yaml 93.4% 94.4% 170/182
Familial_Hyperaldosteronism.yaml 93.4% 94.6% 128/137
Body_Dysmorphic_Disorder.yaml 93.4% 95.3% 57/61
Apert_Syndrome.yaml 93.5% 94.4% 143/153
46_XY_DSD_Due_to_5_Alpha_Reductase_2_Deficiency.yaml 93.5% 94.1% 129/138
Mucolipidosis_Type_IV.yaml 93.5% 96.1% 43/46
Phenylketonuria.yaml 93.5% 94.3% 447/478
Pleuropulmonary_Blastoma.yaml 93.5% 94.7% 130/139
Congenital_Renal_Artery_Stenosis.yaml 93.5% 95.4% 58/62
Collagenous_Sprue.yaml 93.6% 96.6% 102/109
Hypersensitivity_Pneumonitis.yaml 93.6% 94.2% 102/109 1
Leprosy.yaml 93.6% 94.6% 102/109
Chondrodysplasia_Punctata_Tibial-metacarpal_Type.yaml 93.6% 94.2% 73/78 1
Carotid_Web.yaml 93.6% 95.3% 44/47 1
Split_Hand_Foot_Malformation.yaml 93.6% 94.8% 103/110
Inclusion_Body_Myopathy_with_Paget_Disease_of_Bone_and_Frontotemporal_Dementia.yaml 93.6% 94.7% 162/173
Parvovirus_B19_Infection.yaml 93.7% 93.4% 133/142 1
oligoastrocytoma.yaml 93.7% 95.2% 74/79
Arterial_Dissection_Lentiginosis_Syndrome.yaml 93.7% 94.0% 89/95
46_XX_Gonadal_Dysgenesis.yaml 93.7% 94.4% 209/223
Acrocallosal_Syndrome.yaml 93.8% 95.4% 75/80
Autosomal_Dominant_Dopa_Responsive_Dystonia.yaml 93.8% 94.3% 210/224
Breast_Fibroadenoma.yaml 93.8% 100.0% 15/16
Clostridioides_difficile_Infection.yaml 93.8% 95.9% 150/160
Dengue.yaml 93.8% 100.0% 15/16
Fibrous_Dysplasia.yaml 93.8% 94.8% 195/208
Infectious_Disease.yaml 93.8% 100.0% 15/16
Miller-Dieker_Lissencephaly_Syndrome.yaml 93.8% 95.2% 105/112
Tuberculosis.yaml 93.8% 94.1% 210/224
Blau_Syndrome.yaml 93.8% 95.2% 106/113
Auto-Brewery_Syndrome.yaml 93.8% 95.1% 91/97
Loeys-Dietz_Syndrome.yaml 93.9% 94.8% 199/212
Guillain_Barre_Syndrome.yaml 93.9% 94.9% 92/98
Scabies.yaml 93.9% 95.4% 46/49
Ornithine_Carbamoyltransferase_Deficiency.yaml 93.9% 94.5% 200/213
Atrial_Septal_Defect.yaml 93.9% 94.2% 77/82 1
Keratoderma_Hereditarium_Mutilans.yaml 93.9% 95.1% 108/115
Multisystemic_Smooth_Muscle_Dysfunction_Syndrome.yaml 93.9% 92.6% 62/66 2
Plasma_Cell_Neoplasm.yaml 93.9% 95.2% 124/132
Contact_Dermatitis.yaml 94.0% 96.0% 218/232
Congenital_Total_Pulmonary_Venous_Return_Anomaly.yaml 94.0% 96.3% 47/50
Pancreatic_Mucinous_Cystadenoma.yaml 94.1% 95.3% 95/101
Acute_Disseminated_Encephalomyelitis.yaml 94.1% 94.8% 159/169
Diffuse_Nonepidermolytic_Palmoplantar_Keratoderma.yaml 94.1% 95.3% 112/119
Fibrochondrogenesis.yaml 94.1% 94.9% 128/136
Lymphoma.yaml 94.1% 93.5% 32/34 1
Myelodysplastic_Syndrome.yaml 94.1% 95.6% 96/102
D-2-Hydroxyglutaric_Aciduria.yaml 94.1% 94.3% 193/205 2
Pancreatic_Agenesis.yaml 94.2% 95.5% 97/103
Chickenpox.yaml 94.2% 94.0% 146/155 1
Leishmaniasis.yaml 94.2% 95.7% 49/52
Feingold_Syndrome.yaml 94.2% 95.3% 131/139
Lead_Poisoning.yaml 94.2% 95.2% 262/278 1
Carnitine_Palmitoyltransferase_II_Deficiency.yaml 94.2% 95.8% 213/226
Anal_Canal_Adenocarcinoma.yaml 94.3% 95.8% 82/87
Cerebral_Cavernous_Malformation.yaml 94.3% 95.4% 82/87 1
Omodysplasia.yaml 94.3% 95.1% 164/174
Friedreich_Ataxia.yaml 94.3% 95.1% 181/192
Ayme-Gripp_Syndrome.yaml 94.3% 94.7% 99/105
Inherited_Threoninemia.yaml 94.4% 95.7% 117/124
Sagittal_Sinus_Thrombosis.yaml 94.4% 96.2% 67/71
Renal_Artery_Obstruction.yaml 94.4% 95.6% 101/107
ALK_Rearranged_NSCLC.yaml 94.4% 94.7% 238/252
ATR-X_Syndrome.yaml 94.4% 96.0% 102/108
Beta-Ketothiolase_Deficiency.yaml 94.4% 94.8% 255/270
TTN_Related_Myopathy_Dominant_Negative_TTNsv.yaml 94.4% 95.8% 85/90
Xeroderma_Pigmentosum.yaml 94.4% 95.3% 170/180
Wilsons_Disease.yaml 94.5% 94.4% 562/595 3
Preeclampsia.yaml 94.5% 95.5% 171/181
Familial_Hyperaldosteronism_Type_I.yaml 94.5% 94.7% 120/127
Mitochondrial_DNA_Depletion_Syndrome_7.yaml 94.5% 96.1% 86/91
KRT1_Keratinopathies.yaml 94.5% 96.0% 69/73
Schindler_Disease.yaml 94.5% 96.6% 52/55
Pilocytic_Astrocytoma.yaml 94.6% 96.0% 87/92
Oppositional_Defiant_Disorder.yaml 94.6% 94.7% 122/129
Lung_Carcinoma.yaml 94.6% 93.9% 35/37 1
Transaldolase_Deficiency.yaml 94.6% 94.8% 210/222
Fontaine_Progeroid_Syndrome.yaml 94.6% 95.5% 246/260
Tourette_Syndrome.yaml 94.6% 94.0% 141/149 1
Hurler_syndrome.yaml 94.6% 95.5% 159/168
FOXG1_Disorder.yaml 94.7% 96.1% 177/187
Hypomyelinating_Leukodystrophy_7.yaml 94.7% 96.0% 89/94
Menieres_Disease.yaml 94.7% 95.6% 89/94
Long_COVID.yaml 94.7% 94.5% 410/433 3
Ritscher-Schinzel_Syndrome.yaml 94.7% 95.9% 143/151
Panic_Disorder.yaml 94.7% 94.8% 108/114
Penile_Cancer.yaml 94.7% 95.9% 90/95
Primary_Lateral_Sclerosis.yaml 94.7% 100.0% 18/19
Rhizomelic_Chondrodysplasia_Punctata_Type_1.yaml 94.8% 96.1% 91/96
Dopa_Responsive_Dystonia.yaml 94.8% 95.9% 92/97
Metatropic_Dysplasia.yaml 94.9% 96.9% 111/117
Spasmodic_Dysphonia.yaml 94.9% 96.3% 74/78
Alagille_syndrome.yaml 94.9% 96.1% 150/158
Complete_Androgen_Insensitivity_Syndrome.yaml 94.9% 95.7% 169/178
Thanatophoric_Dysplasia_Type_2.yaml 94.9% 95.2% 169/178
Optic_Neuritis.yaml 95.0% 95.3% 208/219
Binge_Eating_Disorder.yaml 95.0% 96.9% 57/60
Idiopathic_Spontaneous_Coronary_Artery_Dissection.yaml 95.0% 96.4% 76/80
Malignant_Peripheral_Nerve_Sheath_Tumor.yaml 95.0% 95.9% 114/120
Refeeding_Syndrome.yaml 95.0% 95.9% 171/180
Hereditary_Pulmonary_Alveolar_Proteinosis.yaml 95.0% 95.9% 134/141
Stickler_Syndrome_Type_1.yaml 95.0% 96.5% 134/141
Meckel_Diverticulum.yaml 95.1% 96.2% 58/61
Torsade_De_Pointes_Syndrome_With_Short_Coupling_Interval.yaml 95.1% 96.5% 97/102
VLCAD_Deficiency.yaml 95.1% 95.5% 234/246 1
Pompe_Disease.yaml 95.1% 96.0% 196/206
Smith-Magenis_Syndrome.yaml 95.2% 96.6% 118/124
Acute_Flaccid_Myelitis.yaml 95.2% 96.1% 138/145
UNC13A_NDD_with_Seizures_and_Movement_Disorder.yaml 95.2% 96.7% 79/83
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml 95.2% 95.7% 258/271
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml 95.2% 95.9% 199/209
Alcoholic_Liver_Disease.yaml 95.2% 93.8% 20/21 1
Duane_Radial_Ray_Syndrome.yaml 95.2% 96.2% 140/147
Fibromuscular_Dysplasia.yaml 95.2% 97.3% 60/63
Partial_Androgen_Insensitivity_Syndrome.yaml 95.3% 95.9% 181/190
CHARGE_Syndrome.yaml 95.3% 96.5% 102/107
Sclerosteosis.yaml 95.3% 97.0% 102/107
Atypical_Teratoid_Rhabdoid_Tumor.yaml 95.3% 96.3% 82/86
D-Bifunctional_Protein_Deficiency.yaml 95.3% 96.6% 82/86
Hirschsprung_Disease.yaml 95.3% 95.7% 123/129
CNS_Vasculitis.yaml 95.4% 96.1% 208/218
AR_Cerebellar_Ataxia-Saccadic_Intrusion_Syndrome.yaml 95.5% 96.8% 84/88
Kniest_Dysplasia.yaml 95.5% 96.3% 126/132 1
Leri-Weill_Dyschondrosteosis.yaml 95.5% 96.2% 126/132
Lymphatic_Filariasis.yaml 95.5% 96.7% 63/66
NAGA_Deficiency_Type_3.yaml 95.5% 97.8% 42/44
Semantic_Dementia.yaml 95.5% 100.0% 21/22
Snakebite_Envenoming.yaml 95.5% 100.0% 21/22
Methylmalonic_Acidemia.yaml 95.5% 96.2% 297/311 1
Propionic_Acidemia.yaml 95.5% 96.2% 234/245
Cushings_Syndrome.yaml 95.6% 98.0% 43/45
Hereditary_Methemoglobinemia.yaml 95.6% 96.3% 129/135
Metastatic_Gastric_Cancer.yaml 95.6% 97.0% 65/68
Tetanus.yaml 95.6% 95.2% 65/68 1
Noma.yaml 95.6% 96.8% 87/91
Diabetes_Mellitus.yaml 95.6% 95.7% 593/620 2
Cystic_Echinococcosis.yaml 95.7% 97.5% 44/46
Dientamoebiasis.yaml 95.7% 96.9% 132/138
Osteogenesis_Imperfecta_Type_V.yaml 95.7% 97.1% 88/92
Primary_Progressive_Aphasia.yaml 95.7% 100.0% 22/23
Ochoa_Syndrome.yaml 95.7% 96.6% 134/140
Osteochondritis_of_Tarsal_Metatarsal_Bone.yaml 95.7% 97.3% 67/70
Atelosteogenesis_Type_I.yaml 95.7% 97.4% 112/117
FAS-related_Autoimmune_Lymphoproliferative_Syndrome.yaml 95.7% 96.7% 135/141
Onchocerciasis.yaml 95.7% 97.6% 45/47
RNU12-related_Minor_Spliceopathy.yaml 95.7% 97.9% 45/47
Delayed_Sleep_Phase_Syndrome.yaml 95.8% 97.9% 91/95
Pulmonary_Veno_Occlusive_Disease_And_Or_Pulmonary_Capillary_Haemangiomatosis.yaml 95.9% 96.6% 116/121 1
46_XX_Testicular_DSD.yaml 95.9% 96.8% 141/147
Atelosteogenesis_Type_III.yaml 95.9% 98.4% 71/74
IGF1_Deficiency.yaml 96.0% 97.5% 72/75
Spinal_Cord_Ischemia.yaml 96.0% 96.1% 72/75 1
Adult_Refsum_Disease.yaml 96.0% 96.4% 291/303
Congenital_Insensitivity_to_Pain.yaml 96.1% 97.1% 123/128
DECR_Deficiency.yaml 96.1% 97.2% 123/128
Cleidocranial_Dysplasia.yaml 96.1% 98.4% 74/77
Liberfarb_syndrome.yaml 96.1% 97.6% 74/77
Holocarboxylase_Synthetase_Deficiency.yaml 96.1% 96.3% 247/257 1
Beckwith-Wiedemann_Syndrome.yaml 96.1% 97.2% 124/129
Glycogen_Storage_Disease_Type_I.yaml 96.1% 96.5% 299/311 1
Mucopolysaccharidosis_type_IX.yaml 96.2% 98.2% 50/52
Wiedemann-Steiner_Syndrome.yaml 96.2% 97.5% 100/104
Galloway-Mowat_Syndrome.yaml 96.2% 97.0% 202/210
Cholesteryl_Ester_Storage_Disease.yaml 96.2% 98.3% 51/53
Nonketotic_Hyperglycinemia.yaml 96.2% 97.0% 204/212
Noonan_Syndrome.yaml 96.2% 97.5% 459/477
Gitelman_Syndrome.yaml 96.2% 96.9% 154/160
Activated_PI3K-delta_Syndrome.yaml 96.3% 97.4% 129/134
Spondylocarpotarsal_Synostosis_Syndrome.yaml 96.3% 97.7% 129/134
Chronic_Neurovisceral_Acid_Sphingomyelinase_Deficiency.yaml 96.3% 98.2% 52/54
Genitopatellar_Syndrome.yaml 96.3% 97.7% 78/81
Cerebellar_Ataxia_Intellectual_Disability_and_Dysequilibrium.yaml 96.3% 97.5% 105/109
Meacham_syndrome.yaml 96.3% 97.1% 105/109
Hospital-Acquired_Acute_Kidney_Injury.yaml 96.4% 97.2% 132/137
Kanzaki_Disease.yaml 96.4% 98.3% 53/55
DYRK1A_Syndrome.yaml 96.4% 97.6% 133/138
Weaver_Syndrome.yaml 96.4% 97.3% 107/111 1
Combined_Pituitary_Hormone_Deficiencies_Genetic_Form.yaml 96.4% 97.4% 135/140
Arts_syndrome.yaml 96.5% 97.7% 136/141
Lane_Hamilton_Syndrome.yaml 96.5% 98.5% 83/86
Branchiooculofacial_Syndrome.yaml 96.5% 97.6% 111/115
Fabry_Disease.yaml 96.5% 97.2% 391/405
Shigellosis.yaml 96.6% 96.6% 112/116 1
Ludwigs_Angina.yaml 96.6% 97.8% 113/117
Atelosteogenesis_Type_II.yaml 96.6% 98.6% 85/88
SLC35A2-CDG.yaml 96.6% 97.9% 85/88
Sly_syndrome.yaml 96.6% 98.0% 86/89
Silver_Russell_Syndrome.yaml 96.6% 97.5% 115/119
Adenine_Phosphoribosyltransferase_Deficiency.yaml 96.7% 97.0% 233/241
Aspartylglucosaminuria.yaml 96.7% 97.3% 234/242 2
Hashimoto_Encephalopathy.yaml 96.7% 97.3% 147/152
Rosacea.yaml 96.7% 97.5% 267/276
FOXE3_Anterior_Segment_Dysgenesis.yaml 96.8% 98.4% 60/62
Primary_Pigmented_Nodular_Adrenocortical_Disease.yaml 96.8% 97.8% 121/125
Bohring-Opitz_syndrome.yaml 96.8% 96.3% 91/94 1
Zlotogora-Ogur_Syndrome.yaml 96.8% 98.1% 91/94
Diastrophic_Dysplasia.yaml 96.8% 97.9% 152/157
Scimitar_Syndrome.yaml 96.9% 97.7% 123/127
Grange_syndrome.yaml 96.9% 98.4% 62/64
Infantile_Parkinsonism-Dystonia.yaml 96.9% 98.1% 93/96
Yaws.yaml 96.9% 100.0% 31/32
Melkersson_Rosenthal_syndrome.yaml 96.9% 98.7% 94/97
Travelers_Diarrhea.yaml 96.9% 98.5% 63/65
Hemochromatosis.yaml 96.9% 97.2% 317/327
KBG_Syndrome.yaml 97.0% 98.0% 128/132
Glycogen_Storage_Disease_Type_IV.yaml 97.0% 97.4% 292/301
AIP-related_pituitary_adenoma_predisposition.yaml 97.0% 98.2% 196/202
Ogden_syndrome.yaml 97.0% 98.1% 98/101
Acne_Vulgaris.yaml 97.0% 97.8% 229/236
Bells_Palsy.yaml 97.0% 98.1% 131/135
Congenital_Hypothyroidism.yaml 97.1% 97.8% 167/172
Isolated_Woolly_Hair.yaml 97.1% 98.6% 67/69
Autosomal_Dominant_Polycystic_Liver_Disease.yaml 97.1% 97.8% 169/174
Hartnup_Disease.yaml 97.1% 97.6% 237/244
Mycosis_Fungoides.yaml 97.1% 97.6% 102/105 1
Myhre_Syndrome.yaml 97.2% 98.1% 137/141
Citrullinemia_Type_I.yaml 97.2% 97.6% 240/247
Roifman-syndrome.yaml 97.2% 98.5% 69/71
Hypotonia-Cystinuria_Syndrome.yaml 97.2% 97.9% 175/180
Abetalipoproteinemia.yaml 97.2% 97.5% 281/289
Metaphyseal_Chondrodysplasia_Schmid_Type.yaml 97.3% 98.0% 142/146
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
Bacterial_meningitis.yaml 97.3% 97.5% 252/259 1
Orofaciodigital_Syndrome_Type_I.yaml 97.3% 98.6% 108/111
N-Acetylglutamate_Synthase_Deficiency.yaml 97.3% 97.8% 218/224
Aromatase_Deficiency.yaml 97.3% 98.1% 146/150
Immunodeficiency_Centromeric_Instability_Facial_Anomalies_Syndrome.yaml 97.4% 97.9% 221/227
Membranous_Nephropathy.yaml 97.4% 98.3% 111/114
Boucher-Neuhauser_Syndrome.yaml 97.4% 98.8% 75/77
Zellweger_Spectrum_Disorders.yaml 97.4% 98.0% 188/193
Hepatoblastoma.yaml 97.4% 99.1% 113/116
Kufor-Rakeb_syndrome.yaml 97.4% 98.4% 114/117
Facioscapulohumeral_Muscular_Dystrophy.yaml 97.5% 98.7% 77/79
Foodborne_Trematodiases.yaml 97.5% 100.0% 39/40
GM3_Synthase_Deficiency.yaml 97.5% 98.0% 199/204
Bosch-Boonstra-Schaaf_Optic_Atrophy_Syndrome.yaml 97.6% 98.9% 80/82
Focal_Dermal_Hypoplasia.yaml 97.6% 98.6% 122/125
Williams_Syndrome.yaml 97.7% 98.9% 125/128
ALG12_Congenital_Disorder_of_Glycosylation.yaml 97.8% 98.4% 177/181
L-2-Hydroxyglutaric_Aciduria.yaml 97.8% 98.3% 223/228
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml 97.8% 98.5% 135/138
Campomelic_Dysplasia.yaml 97.8% 99.4% 90/92
Familial_Focal_Epilepsy_With_Variable_Foci.yaml 97.8% 98.9% 90/92
Gilberts_Syndrome.yaml 97.8% 98.8% 90/92
Mucolipidosis_Type_III_Alpha_Beta.yaml 97.9% 98.3% 331/338
Nemaline_Myopathy.yaml 98.0% 98.0% 288/294
Mosaic_Variegated_Aneuploidy_Syndrome.yaml 98.0% 98.5% 196/200
Polycystic_Echinococcosis.yaml 98.0% 100.0% 49/50
Coccidioidomycosis.yaml 98.0% 99.2% 148/151
Hereditary_Fructose_Intolerance.yaml 98.1% 98.7% 151/154
Primrose_Syndrome.yaml 98.1% 98.8% 152/155
ornithine_aminotransferase_deficiency.yaml 98.1% 98.7% 152/155
Southern_Tick-Associated_Rash_Illness.yaml 98.1% 100.0% 51/52
Cat-Scratch_Disease.yaml 98.1% 98.2% 103/105 1
Hereditary_Intrinsic_Factor_Deficiency.yaml 98.1% 98.7% 103/105 1
Larsen_Syndrome.yaml 98.1% 99.4% 103/105
Menkes_Disease.yaml 98.1% 98.3% 208/212
MECP2_Duplication_Syndrome.yaml 98.1% 99.1% 106/108
Schistosomiasis.yaml 98.1% 100.0% 53/54
Cowden_Syndrome.yaml 98.2% 98.9% 166/169
Jeavons_Syndrome.yaml 98.2% 99.1% 111/113
Congenital_Epulis.yaml 98.2% 100.0% 56/57
IRX5-related_Craniofacial_Dysostosis_with_Osteopenia_Intellectual_Disability_and_Dental_Anomalies.yaml 98.2% 99.2% 112/114
Takayasu_Arteritis.yaml 98.3% 98.9% 226/230
Hepatitis_B.yaml 98.3% 98.4% 231/235
Congenital_Sucrase-Isomaltase_Deficiency.yaml 98.3% 99.2% 116/118
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
Malignant_Hyperthermia_of_Anesthesia.yaml 98.3% 100.0% 119/121
Spondyloepiphyseal_Dysplasia_Congenita.yaml 98.4% 99.0% 181/184
Carnitine-Acylcarnitine_Translocase_Deficiency.yaml 98.4% 99.1% 249/253
Stiff_Person_Syndrome.yaml 98.4% 99.0% 187/190
Myeloproliferative_Neoplasm_Unclassifiable.yaml 98.5% 100.0% 64/65
Idiopathic_Phalangeal_Acro-osteolysis.yaml 98.5% 100.0% 66/67
Erythrokeratodermia_Variabilis.yaml 98.5% 100.0% 67/68
MCAD_Deficiency.yaml 98.6% 99.1% 208/211
Dextro_Transposition_of_the_Great_Arteries.yaml 98.6% 100.0% 71/72
Visual_Snow_Syndrome.yaml 98.6% 100.0% 71/72
Axenfeld-Rieger_syndrome.yaml 98.6% 98.9% 143/145 1
Cholesteatoma.yaml 98.6% 99.1% 217/220
Renal_Tubular_Acidosis_Distal_4_with_Hemolytic_Anemia.yaml 98.7% 99.3% 151/153
Frontonasal_Dysplasia.yaml 98.7% 100.0% 76/77
Epidermolysis_Bullosa.yaml 98.7% 99.0% 229/232
Smith-Lemli-Opitz_syndrome.yaml 98.7% 99.3% 155/157
Pyruvate_Carboxylase_Deficiency_Disease.yaml 98.8% 99.4% 158/160
Cronkhite-Canada_syndrome.yaml 98.8% 100.0% 80/81
Houge-Janssens_Syndrome.yaml 98.8% 99.4% 161/163
Akinetopsia.yaml 98.8% 100.0% 82/83
Waldenstrom_Macroglobulinemia.yaml 98.8% 100.0% 82/83
Familial_Isolated_Vitamin_E_Deficiency.yaml 98.8% 100.0% 83/84
Pyruvate_Dehydrogenase_Deficiency.yaml 98.8% 99.0% 504/510
Hereditary_Diffuse_Leukoencephalopathy_with_Spheroids.yaml 98.8% 100.0% 85/86
X-linked_Nonsyndromic_Hearing_Loss.yaml 98.8% 100.0% 85/86
Schneckenbecken_Dysplasia.yaml 98.9% 99.4% 173/175
Hashimotos_Thyroiditis.yaml 98.9% 99.3% 87/88
Landau-Kleffner_Syndrome.yaml 98.9% 100.0% 87/88
ATRX_Syndrome.yaml 98.9% 100.0% 88/89
Hereditary_Orotic_Aciduria.yaml 98.9% 99.4% 177/179
Spondyloepimetaphyseal_Dysplasia_Bieganski_Type.yaml 99.0% 100.0% 95/96
CALFAN_Syndrome.yaml 99.0% 100.0% 96/97
Autosomal_Recessive_Ataxia_Beauce_Type.yaml 99.0% 100.0% 97/98
BCKDK_Deficiency.yaml 99.0% 100.0% 98/99
Aortic_Valve_Disease_2.yaml 99.0% 100.0% 99/100
MEDNIK_syndrome.yaml 99.0% 100.0% 101/102
Acute_Intermittent_Porphyria.yaml 99.0% 99.7% 205/207
Central_Congenital_Hypothyroidism.yaml 99.0% 100.0% 103/104
Chronic_Myelomonocytic_Leukemia.yaml 99.0% 100.0% 103/104
Semicircular_Canal_Dehiscence_Syndrome.yaml 99.0% 99.0% 208/210
Meningioma.yaml 99.1% 99.0% 211/213
Cutaneous_Larva_Migrans.yaml 99.1% 100.0% 106/107
Farber_Disease.yaml 99.1% 99.5% 213/215
Hairy_Cell_Leukemia.yaml 99.1% 100.0% 108/109
EFL1-related_Shwachman-Diamond_syndrome.yaml 99.1% 100.0% 110/111
Hemophagocytic_Lymphohistiocytosis.yaml 99.1% 100.0% 110/111
Temtamy_Syndrome.yaml 99.1% 100.0% 112/113
Mitochondrial_Neurogastrointestinal_Encephalomyopathy.yaml 99.1% 100.0% 113/114
Benign_Neonatal_Seizures.yaml 99.1% 100.0% 114/115
Mandibulofacial_Dysostosis_with_Microcephaly.yaml 99.1% 100.0% 114/115
Anaplastic_Thyroid_Carcinoma.yaml 99.1% 100.0% 115/116
Myxedema.yaml 99.1% 100.0% 116/117
Transverse_Myelitis.yaml 99.2% 100.0% 117/118
X-linked_Dystonia-Parkinsonism.yaml 99.2% 100.0% 118/119
Alpha_Mannosidosis.yaml 99.2% 99.4% 476/480
Cerebellar_Ataxia-Hypogonadism_Syndrome.yaml 99.2% 100.0% 119/120
Dentatorubral-Pallidoluysian_Atrophy.yaml 99.2% 100.0% 119/120
Autoimmune_Autonomic_Ganglionopathy.yaml 99.2% 100.0% 120/121
Pars_Planitis.yaml 99.2% 100.0% 121/122
Dimethylglycine_Dehydrogenase_Deficiency.yaml 99.2% 100.0% 122/123
Woodhouse-Sakati_Syndrome.yaml 99.2% 100.0% 124/125
Sialidosis_Type_1.yaml 99.2% 99.6% 250/252
Treacher_Collins_Syndrome.yaml 99.2% 100.0% 127/128
STK4_Deficiency.yaml 99.2% 100.0% 128/129
Rubinstein-Taybi_Syndrome.yaml 99.2% 100.0% 131/132
Glycogen_Storage_Disease_XV.yaml 99.3% 100.0% 137/138
BLOC1S1-related_Complex_Neurodevelopmental_Disorder_with_Leukodystrophy.yaml 99.3% 100.0% 145/146
Chorea-acanthocytosis.yaml 99.3% 100.0% 146/147
ADNP-Related_Syndrome.yaml 99.3% 100.0% 148/149
Neurodegeneration_With_Brain_Iron_Accumulation.yaml 99.3% 100.0% 152/153
Glycogen_Storage_Disease_Type_VII.yaml 99.4% 100.0% 158/159
CD27-related_lymphoproliferative_and_immune_disorder.yaml 99.4% 100.0% 159/160
COG7-Congenital_Disorder_of_Glycosylation.yaml 99.4% 100.0% 163/164
Lafora_Disease.yaml 99.4% 99.7% 333/335
Anti-NMDA_Receptor_Encephalitis.yaml 99.4% 100.0% 169/170
Opsismodysplasia.yaml 99.4% 100.0% 170/171
Wolman_Disease.yaml 99.4% 100.0% 172/173
Cortisone_Reductase_Deficiency.yaml 99.4% 100.0% 173/174
MMACHC-related_Methylmalonic_Aciduria_and_Homocystinuria_cblC_Type.yaml 99.4% 100.0% 173/174
Pontocerebellar_Hypoplasia.yaml 99.4% 100.0% 173/174
Sandhoff_Disease.yaml 99.4% 100.0% 173/174
Prader-Willi_Syndrome.yaml 99.4% 100.0% 175/176
Spinocerebellar_Ataxia_Type_17.yaml 99.4% 100.0% 177/178
Limbic_Encephalitis.yaml 99.5% 100.0% 181/182
Neurosarcoidosis.yaml 99.5% 100.0% 181/182
Susac_Syndrome.yaml 99.5% 100.0% 195/196
Hunter_syndrome.yaml 99.5% 100.0% 197/198
Alkaptonuria.yaml 99.5% 100.0% 198/199
Neuropsychiatric_SLE.yaml 99.5% 100.0% 211/212
Acquired_Partial_Lipodystrophy.yaml 99.5% 100.0% 212/213
Morquio_syndrome.yaml 99.5% 100.0% 212/213
Sanfilippo_syndrome.yaml 99.5% 100.0% 217/218
Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml 99.6% 100.0% 232/233
Cystinuria.yaml 99.6% 100.0% 233/234
Paraneoplastic_Neurological_Syndromes.yaml 99.6% 100.0% 247/248
3-Hydroxy-3-Methylglutaryl-CoA_Synthase_Deficiency.yaml 99.6% 100.0% 252/253
Berardinelli_Seip_Congenital_Lipodystrophy.yaml 99.6% 100.0% 252/253
Tangier_Disease.yaml 99.6% 100.0% 260/261
Fucosidosis.yaml 99.7% 100.0% 306/307
Coffin_Siris_Syndrome.yaml 99.7% 100.0% 307/308
Hyperornithinemia_Hyperammonemia_Homocitrullinuria_Syndrome.yaml 99.7% 100.0% 345/346
Cerebrotendinous_Xanthomatosis.yaml 99.8% 100.0% 433/434
Lynch_Syndrome.yaml 100.0% 100.0% 213/213
Machado_Joseph_Disease.yaml 100.0% 100.0% 191/191
Osteogenesis_Imperfecta_Type_IV.yaml 100.0% 100.0% 114/114
Osteogenesis_Imperfecta_Type_VII.yaml 100.0% 100.0% 94/94
SETBP1_Disorder.yaml 100.0% 100.0% 84/84

DISMECH Capability Metrics

Tracking 1,304 curated entries, 60,056 evidence items, 48,693 ontology-grounded terms, and 6,606 pathophysiology nodes. Average weighted compliance is 87.9%. MONDO human-disease coverage includes 1,255 exact-page terms and 8,421 exact-or-parent represented terms.

View the capability metrics report

Not Yet Curated Disease Links

Found 233 referenced MONDO disease terms without local pages across 246 linking page references.

View the uncurated disease link report

MONDO Curation Priorities

25541 of 25541 MONDO candidates remain after accounting for 0 already curated diseases. Top remaining candidate: Duane retraction syndrome (79.5).

View the curation priority dashboard