QC Dashboard - Multi-File Comparison
708 files analyzed (sorted by compliance, lowest first)
Files Analyzed
708
Average Compliance
81.9%
Total Checks
56308/68731
Total Violations
265
Slot Compliance Comparison
Priority Files - Detailed View
Showing the 10 files with lowest compliance for prioritized curation.
#1: Multiple_Mitochondrial_Dysfunctions_Syndrome_9B.yaml (46.9%)
#2: Phelan-McDermid_Syndrome.yaml (47.8%)
#3: Hepatoblastoma.yaml (48.2%)
#4: Dentatorubral-Pallidoluysian_Atrophy.yaml (48.4%)
#5: SHH_Holoprosencephaly_Spectrum.yaml (48.4%)
#6: Anaplastic_Thyroid_Carcinoma.yaml (49.3%)
#7: Bronchiectasis.yaml (50.6%)
#8: Follicular_Lymphoma.yaml (50.7%)
#9: Aortic_Valve_Disease_2.yaml (51.0%)
#10: MCAD_Deficiency.yaml (51.1%)
All Files (Sorted by Priority)
Files with lowest compliance are listed first to prioritize curation efforts.
| File | Global | Weighted | Populated | Violations |
|---|---|---|---|---|
#1 Multiple_Mitochondrial_Dysfunctions_Syndrome_9B.yaml |
46.9% | 58.7% | 84/179 | 1 |
#2 Phelan-McDermid_Syndrome.yaml |
47.8% | 65.7% | 32/67 | |
#3 Hepatoblastoma.yaml |
48.2% | 61.0% | 53/110 | |
#4 Dentatorubral-Pallidoluysian_Atrophy.yaml |
48.4% | 62.0% | 44/91 | |
#5 SHH_Holoprosencephaly_Spectrum.yaml |
48.4% | 60.7% | 31/64 | 1 |
#6 Anaplastic_Thyroid_Carcinoma.yaml |
49.3% | 61.1% | 37/75 | |
#7 Bronchiectasis.yaml |
50.6% | 59.3% | 40/79 | 1 |
#8 Follicular_Lymphoma.yaml |
50.7% | 62.5% | 37/73 | |
#9 Aortic_Valve_Disease_2.yaml |
51.0% | 62.6% | 26/51 | |
#10 MCAD_Deficiency.yaml |
51.1% | 62.3% | 24/47 | 1 |
Embryonal_Rhabdomyosarcoma.yaml |
51.2% | 58.7% | 22/43 | 1 |
Diffuse_Large_B_Cell_Lymphoma.yaml |
51.4% | 60.2% | 37/72 | 1 |
Burkitt_Lymphoma.yaml |
51.7% | 59.4% | 31/60 | 1 |
MYO6_Hearing_Loss.yaml |
51.7% | 64.3% | 31/60 | |
Gilberts_Syndrome.yaml |
51.9% | 66.2% | 28/54 | |
KRAS_G12C_Mutant_NSCLC.yaml |
51.9% | 57.6% | 28/54 | 1 |
Chronic_Lymphocytic_Leukemia.yaml |
52.1% | 61.2% | 38/73 | 1 |
Dermatofibrosarcoma_Protuberans.yaml |
52.5% | 57.9% | 21/40 | 1 |
Metastatic_Pancreatic_Adenocarcinoma.yaml |
52.5% | 60.9% | 21/40 | 1 |
ALK_Rearranged_NSCLC.yaml |
52.5% | 59.1% | 31/59 | 1 |
Hepatocellular_Carcinoma.yaml |
52.7% | 60.7% | 49/93 | 1 |
Green_Tobacco_Sickness.yaml |
52.8% | 67.2% | 57/108 | |
TGFBI_Corneal_Dystrophies.yaml |
53.4% | 64.5% | 31/58 | |
PIK3CA_Mutant_Breast_Cancer.yaml |
53.5% | 58.5% | 23/43 | 1 |
Charcot-Marie-Tooth_Disease_Type_2.yaml |
53.6% | 67.0% | 45/84 | |
Metastatic_Breast_Carcinoma.yaml |
53.7% | 62.2% | 22/41 | 1 |
Triphalangeal_Thumb_Polysyndactyly.yaml |
53.8% | 65.8% | 21/39 | |
Neuroblastoma.yaml |
54.0% | 60.8% | 34/63 | 2 |
Familial_Adenomatous_Polyposis.yaml |
54.0% | 60.7% | 27/50 | 1 |
2-Methylbutyryl-CoA_Dehydrogenase_Deficiency.yaml |
54.1% | 67.8% | 60/111 | 1 |
Gastrointestinal_Stromal_Tumor.yaml |
54.4% | 61.5% | 31/57 | 1 |
Gastric_Cancer_H_pylori_Associated.yaml |
54.4% | 64.2% | 43/79 | |
Li-Fraumeni_Syndrome.yaml |
54.5% | 58.5% | 30/55 | 1 |
Huntington_Disease.yaml |
54.6% | 68.5% | 53/97 | |
EGFR_Mutant_NSCLC.yaml |
54.7% | 61.7% | 29/53 | 1 |
Aflatoxin_Related_HCC.yaml |
54.8% | 60.7% | 46/84 | 1 |
Metastatic_Colorectal_Cancer.yaml |
54.8% | 65.2% | 23/42 | |
Galactosemia.yaml |
54.8% | 68.2% | 74/135 | |
Cervical_Cancer.yaml |
55.0% | 62.1% | 33/60 | 1 |
Metastatic_Melanoma.yaml |
55.0% | 63.6% | 22/40 | 1 |
Core_Binding_Factor_AML.yaml |
55.1% | 60.7% | 38/69 | 1 |
Medullary_Thyroid_Carcinoma.yaml |
55.1% | 61.8% | 27/49 | 1 |
Pulmonary_hypertension.yaml |
55.2% | 63.9% | 48/87 | 1 |
Clear_Cell_Renal_Cell_Carcinoma.yaml |
55.2% | 63.5% | 37/67 | 1 |
Metastatic_NSCLC.yaml |
55.3% | 63.8% | 21/38 | 1 |
Terminal_Osseous_Dysplasia.yaml |
55.3% | 66.7% | 26/47 | 1 |
Psoriasis.yaml |
55.3% | 60.3% | 57/103 | 1 |
Okur_Chung_neurodevelopmental_syndrome.yaml |
55.7% | 70.2% | 39/70 | |
Plague.yaml |
55.8% | 69.0% | 58/104 | |
HER2_Positive_Gastric_Cancer.yaml |
55.8% | 61.5% | 43/77 | 1 |
ALDH18A1_Cutis_Laxa.yaml |
55.9% | 67.9% | 19/34 | |
PRPS1_Deficiency_Spectrum.yaml |
56.0% | 66.7% | 28/50 | 1 |
Mediator_Complex_Neurodevelopmental_Disorder.yaml |
56.1% | 68.9% | 166/296 | 1 |
Kosaki_Overgrowth_Syndrome.yaml |
56.8% | 68.8% | 21/37 | |
HER2_Positive_Breast_Cancer.yaml |
56.9% | 63.4% | 29/51 | 1 |
IgA_Nephropathy.yaml |
56.9% | 69.4% | 78/137 | |
Hypochondroplasia.yaml |
57.0% | 71.7% | 53/93 | |
Skin_Fragility_Woolly_Hair_Syndrome.yaml |
57.1% | 68.1% | 20/35 | |
Small_Cell_Lung_Cancer.yaml |
57.3% | 63.0% | 47/82 | 1 |
Chronic_Kidney_Disease.yaml |
57.4% | 62.6% | 39/68 | |
Nasopharyngeal_Carcinoma.yaml |
57.4% | 64.9% | 39/68 | 1 |
DSP_Cardiomyopathy.yaml |
57.4% | 68.2% | 31/54 | 1 |
Metastatic_Prostate_Cancer.yaml |
57.5% | 59.5% | 23/40 | 1 |
KIT_Mutant_Melanoma.yaml |
57.6% | 60.6% | 38/66 | 1 |
Infantile_Myofibromatosis.yaml |
57.7% | 69.0% | 15/26 | |
Spaceflight_Associated_Neuro-Ocular_Syndrome.yaml |
57.7% | 72.9% | 45/78 | |
Striate_Palmoplantar_Keratoderma_Type_2.yaml |
57.7% | 67.5% | 15/26 | |
Kleefstra_Syndrome.yaml |
57.7% | 70.6% | 56/97 | |
Stevens-Johnson_Syndrome.yaml |
57.9% | 72.9% | 66/114 | |
ALDH18A1_De_Barsy_Spectrum.yaml |
58.0% | 71.4% | 40/69 | |
Ewing_Sarcoma.yaml |
58.0% | 66.1% | 29/50 | 1 |
Dravet_syndrome.yaml |
58.0% | 66.2% | 47/81 | 1 |
Liver_Cirrhosis.yaml |
58.1% | 63.8% | 43/74 | |
Systemic_Sclerosis.yaml |
58.1% | 64.8% | 25/43 | |
Prader-Willi_Syndrome.yaml |
58.4% | 74.4% | 59/101 | |
Cutaneous_Squamous_Cell_Carcinoma.yaml |
58.4% | 69.4% | 45/77 | |
Chronic_Myeloid_Leukemia.yaml |
58.6% | 64.3% | 51/87 | 1 |
Metachromatic_Leukodystrophy.yaml |
58.7% | 72.3% | 44/75 | |
Aicardi_Syndrome.yaml |
58.7% | 73.1% | 64/109 | |
Lesch-Nyhan_Syndrome.yaml |
58.7% | 73.4% | 64/109 | |
Sarcoidosis.yaml |
58.7% | 72.3% | 37/63 | |
Barth_Syndrome.yaml |
58.8% | 72.0% | 47/80 | |
Gastroesophageal_Reflux_Disease.yaml |
58.9% | 62.5% | 33/56 | |
Behcets_Disease.yaml |
59.0% | 63.4% | 23/39 | |
Guillain_Barre_Syndrome.yaml |
59.0% | 63.1% | 23/39 | |
PRPS1_Superactivity.yaml |
59.0% | 69.8% | 23/39 | |
Penttinen_Premature_Aging_Syndrome.yaml |
59.0% | 70.9% | 23/39 | |
TP63_Ectodermal_Dysplasia_Spectrum.yaml |
59.1% | 71.1% | 52/88 | 1 |
Down_syndrome.yaml |
59.3% | 71.1% | 80/135 | |
CRB1_Retinal_Dystrophies.yaml |
59.3% | 75.1% | 51/86 | |
Peripheral_Artery_Disease.yaml |
59.3% | 62.9% | 35/59 | |
Autoimmune_Hepatitis.yaml |
59.5% | 65.2% | 25/42 | |
Costello_Syndrome.yaml |
59.6% | 70.4% | 96/161 | 1 |
Cystic_Fibrosis.yaml |
59.6% | 72.3% | 291/488 | |
Generalized_Anxiety_Disorder.yaml |
59.7% | 65.0% | 40/67 | |
Malignant_Mesothelioma.yaml |
59.7% | 66.1% | 40/67 | 1 |
Endometriosis.yaml |
60.0% | 63.1% | 39/65 | |
Neuronal_Ceroid_Lipofuscinosis.yaml |
60.0% | 74.2% | 36/60 | |
Medulloblastoma_SHH_Activated.yaml |
60.3% | 72.3% | 41/68 | |
Arsenic_Related_Cancers.yaml |
60.4% | 62.2% | 55/91 | 1 |
FLT3_Mutant_AML.yaml |
60.4% | 63.7% | 55/91 | 1 |
Krabbe_Disease.yaml |
60.5% | 75.2% | 72/119 | |
CACNA1A_Related_Disorder.yaml |
60.6% | 75.1% | 66/109 | |
MET_Exon_14_Skipping_NSCLC.yaml |
60.6% | 64.6% | 40/66 | 1 |
Endometrial_Carcinoma.yaml |
60.8% | 66.3% | 45/74 | |
Carvajal_Syndrome.yaml |
60.9% | 72.7% | 28/46 | |
MITF_Waardenburg_Tietz_Spectrum.yaml |
61.0% | 74.5% | 47/77 | |
Age_Related_Macular_Degeneration.yaml |
61.1% | 63.4% | 33/54 | |
Danon_disease.yaml |
61.1% | 75.6% | 44/72 | |
HER2_Positive_Colorectal_Cancer.yaml |
61.1% | 65.2% | 44/72 | 1 |
Malan_Syndrome.yaml |
61.1% | 76.8% | 55/90 | |
Desmoplastic_Small_Round_Cell_Tumor.yaml |
61.2% | 64.8% | 41/67 | 1 |
Metastatic_Ovarian_Cancer.yaml |
61.2% | 73.6% | 30/49 | |
PRPH2-Related_Retinopathy.yaml |
61.4% | 74.8% | 51/83 | |
Pemphigus_Vulgaris.yaml |
61.5% | 64.8% | 24/39 | 1 |
Retinoblastoma.yaml |
61.5% | 68.7% | 32/52 | 1 |
BRAF_V600E_Mutant_NSCLC.yaml |
61.6% | 65.1% | 45/73 | 1 |
Duchenne_Muscular_Dystrophy.yaml |
61.7% | 63.7% | 66/107 | 2 |
Periventricular_Nodular_Heterotopia.yaml |
61.7% | 76.4% | 58/94 | |
RET_Rearranged_NSCLC.yaml |
61.7% | 64.3% | 50/81 | 1 |
Chordoma.yaml |
61.8% | 74.0% | 55/89 | |
APL_PML_RARA.yaml |
61.8% | 66.1% | 47/76 | 1 |
Merkel_Cell_Carcinoma.yaml |
61.8% | 64.6% | 47/76 | 1 |
Juvenile_Polyposis_Syndrome.yaml |
62.0% | 75.2% | 124/200 | |
Metastatic_HCC.yaml |
62.0% | 74.5% | 31/50 | |
Bipolar_Disorder.yaml |
62.1% | 66.7% | 41/66 | |
Stargardt_Disease.yaml |
62.2% | 75.8% | 179/288 | |
FLNA_Intestinal_Pseudoobstruction.yaml |
62.2% | 73.6% | 28/45 | |
Thymoma.yaml |
62.3% | 74.8% | 66/106 | |
Heart_Failure.yaml |
62.3% | 64.7% | 38/61 | |
Obstructive_Sleep_Apnea.yaml |
62.3% | 64.3% | 38/61 | |
Kaposi_Sarcoma.yaml |
62.3% | 66.5% | 43/69 | 1 |
Atopic_Dermatitis.yaml |
62.4% | 67.8% | 53/85 | 1 |
FGFR_Altered_Cholangiocarcinoma.yaml |
62.4% | 65.9% | 53/85 | 1 |
Glioblastoma_IDH_Wildtype.yaml |
62.4% | 64.4% | 68/109 | 1 |
Alopecia_Areata.yaml |
62.5% | 63.5% | 25/40 | |
Myasthenia_Gravis.yaml |
62.5% | 66.7% | 45/72 | |
Osteoglophonic_Dysplasia.yaml |
62.5% | 73.4% | 25/40 | |
Sjogrens_Syndrome.yaml |
62.5% | 66.4% | 30/48 | |
Seborrheic_Dermatitis.yaml |
62.7% | 76.1% | 94/150 | |
Ankylosing_Spondylitis.yaml |
62.7% | 65.2% | 37/59 | |
ROS1_Rearranged_NSCLC.yaml |
62.9% | 66.7% | 44/70 | 1 |
Obesity.yaml |
63.0% | 67.0% | 58/92 | 1 |
Pfeiffer_Syndrome.yaml |
63.0% | 74.9% | 29/46 | |
Chronic_Inflammatory_Demyelinating_Polyneuropathy.yaml |
63.2% | 68.5% | 24/38 | |
Hepatitis_C.yaml |
63.2% | 69.0% | 36/57 | 1 |
Ataxia_Telangiectasia.yaml |
63.3% | 78.6% | 76/120 | |
Primary_Sclerosing_Cholangitis.yaml |
63.4% | 67.7% | 26/41 | |
Cowden_Syndrome.yaml |
63.4% | 76.6% | 59/93 | |
Essential_Thrombocythemia.yaml |
63.6% | 68.1% | 42/66 | 1 |
Otopalatodigital_Spectrum_Disorders.yaml |
63.6% | 75.9% | 49/77 | |
Ph_Positive_ALL.yaml |
63.6% | 68.1% | 49/77 | 1 |
Polycythemia_Vera.yaml |
63.6% | 67.7% | 49/77 | 1 |
Niemann_Pick_Disease_Type_C.yaml |
63.8% | 78.3% | 95/149 | |
Bilateral_Striopallidodentate_Calcinosis.yaml |
63.8% | 75.4% | 60/94 | |
Clear_Cell_Sarcoma.yaml |
63.9% | 73.3% | 46/72 | |
Spinal_Muscular_Atrophy.yaml |
64.1% | 64.6% | 41/64 | 2 |
Irritable_Bowel_Syndrome.yaml |
64.1% | 63.9% | 50/78 | 1 |
Camptodactyly.yaml |
64.2% | 68.0% | 43/67 | 1 |
Neurofibromatosis_Type_1.yaml |
64.2% | 66.5% | 43/67 | 1 |
Beta_Thalassemia.yaml |
64.2% | 73.3% | 79/123 | |
Primary_Biliary_Cholangitis.yaml |
64.3% | 67.4% | 27/42 | |
RPGR-Related_Retinopathy.yaml |
64.4% | 79.3% | 47/73 | |
NRAS_Mutant_Melanoma.yaml |
64.4% | 66.5% | 38/59 | 1 |
Angiosarcoma.yaml |
64.5% | 77.4% | 60/93 | |
Blepharophimosis_Ptosis_and_Epicanthus_Inversus_Syndrome.yaml |
64.6% | 77.6% | 51/79 | |
Autoimmune_Hemolytic_Anemia.yaml |
64.6% | 71.8% | 31/48 | |
Multiple_System_Atrophy.yaml |
64.6% | 79.6% | 64/99 | |
Polymyositis.yaml |
64.7% | 67.3% | 33/51 | 1 |
IDH_Mutant_Astrocytoma.yaml |
64.8% | 67.9% | 46/71 | 1 |
Coronary_Artery_Disease.yaml |
64.8% | 68.3% | 35/54 | |
Pancreatic_Neuroendocrine_Tumor.yaml |
64.9% | 75.6% | 74/114 | |
Hereditary_Spherocytosis.yaml |
65.1% | 70.8% | 54/83 | |
IDH_Mutant_Cholangiocarcinoma.yaml |
65.1% | 67.7% | 54/83 | 1 |
Giant_Cell_Arteritis.yaml |
65.1% | 69.6% | 28/43 | |
Granulomatosis_with_Polyangiitis.yaml |
65.1% | 67.9% | 28/43 | |
Medulloblastoma_WNT_Activated.yaml |
65.5% | 69.0% | 36/55 | 1 |
Sickle_Cell_Disease.yaml |
65.6% | 68.3% | 61/93 | |
Encephalocraniocutaneous_Lipomatosis.yaml |
65.6% | 77.3% | 21/32 | |
Pheochromocytoma_Paraganglioma.yaml |
65.6% | 68.4% | 63/96 | 1 |
Multiple_Endocrine_Neoplasia_Type_2.yaml |
65.8% | 67.9% | 48/73 | 1 |
Adult_T_Cell_Leukemia_Lymphoma.yaml |
65.8% | 69.5% | 50/76 | 1 |
Immune_Thrombocytopenia.yaml |
65.9% | 71.3% | 27/41 | |
Glaucoma.yaml |
66.0% | 73.5% | 64/97 | 1 |
Thallium_Poisoning.yaml |
66.2% | 78.4% | 139/210 | |
Activated_PI3K-delta_Syndrome.yaml |
66.4% | 79.9% | 73/110 | |
BRAF_V600E_Mutant_Colorectal_Cancer.yaml |
66.7% | 68.7% | 60/90 | 1 |
Benign_Prostatic_Hyperplasia.yaml |
66.7% | 69.1% | 46/69 | 1 |
Celiac_Disease.yaml |
66.7% | 70.1% | 58/87 | |
EBV_Associated_Gastric_Cancer.yaml |
66.7% | 71.1% | 54/81 | 1 |
Gout.yaml |
66.7% | 69.3% | 46/69 | |
Synovial_Sarcoma.yaml |
66.7% | 68.6% | 42/63 | 1 |
Uveal_Melanoma.yaml |
66.7% | 68.2% | 68/102 | 1 |
Wolman_Disease.yaml |
67.0% | 79.3% | 75/112 | |
IDH_Mutant_Oligodendroglioma.yaml |
67.1% | 68.4% | 55/82 | 1 |
Epilepsy.yaml |
67.1% | 68.7% | 53/79 | 1 |
Major_Depressive_Disorder.yaml |
67.1% | 70.1% | 53/79 | |
Neuromyelitis_Optica.yaml |
67.2% | 65.0% | 39/58 | 5 |
HPV_Negative_Head_and_Neck_Cancer.yaml |
67.3% | 69.1% | 76/113 | 1 |
Basal_Cell_Carcinoma.yaml |
67.4% | 69.0% | 62/92 | 1 |
Primary_Tonsillar_Lymphoma.yaml |
67.5% | 62.5% | 114/169 | 4 |
RET_Fusion_Thyroid_Cancer.yaml |
67.6% | 69.3% | 50/74 | 1 |
IDH_Mutant_AML.yaml |
67.7% | 69.5% | 67/99 | 1 |
FGFR_Altered_Urothelial_Carcinoma.yaml |
67.7% | 69.2% | 42/62 | 1 |
Osteogenesis_Imperfecta_Type_II.yaml |
67.7% | 74.3% | 21/31 | 1 |
Triple_Negative_Breast_Cancer.yaml |
68.1% | 70.5% | 49/72 | 1 |
Metastatic_Renal_Cell_Carcinoma.yaml |
68.1% | 72.2% | 32/47 | |
FGFR1_Hypogonadotropic_Hypogonadism.yaml |
68.5% | 81.5% | 37/54 | |
Pinta.yaml |
68.8% | 68.4% | 11/16 | |
Primary_Myelofibrosis.yaml |
69.1% | 71.5% | 67/97 | 1 |
Dystroglycanopathy.yaml |
69.1% | 75.6% | 114/165 | |
Alveolar_Rhabdomyosarcoma.yaml |
69.1% | 76.9% | 56/81 | |
Dermatomyositis.yaml |
69.4% | 72.3% | 34/49 | 1 |
Beta_Mannosidosis.yaml |
69.7% | 76.9% | 23/33 | |
Atrial_Fibrillation.yaml |
69.9% | 73.3% | 51/73 | 1 |
Frontotemporal_Dementia.yaml |
70.0% | 70.4% | 35/50 | 2 |
Hartsfield_Syndrome.yaml |
70.0% | 82.6% | 35/50 | |
BRCA_Mutant_Prostate_Cancer.yaml |
70.1% | 71.1% | 54/77 | 1 |
CADASIL_Type_1.yaml |
70.3% | 81.6% | 52/74 | |
NPM1_Mutant_AML.yaml |
70.4% | 72.3% | 57/81 | 1 |
Small_Intestinal_Bacterial_Overgrowth.yaml |
70.4% | 77.9% | 19/27 | |
MSI_High_Colorectal_Cancer.yaml |
70.4% | 73.5% | 69/98 | 1 |
Von_Hippel-Lindau_Disease.yaml |
70.8% | 72.8% | 63/89 | |
Cardiofaciocutaneous_Syndrome.yaml |
71.2% | 78.3% | 37/52 | |
Hemophilia_A.yaml |
71.2% | 74.0% | 37/52 | |
Influenza.yaml |
71.2% | 80.4% | 52/73 | |
BRAF_Mutant_Thyroid_Cancer.yaml |
71.2% | 72.2% | 57/80 | 1 |
Fibromyalgia.yaml |
71.3% | 75.1% | 72/101 | |
NTRK_Fusion_Positive_Cancer.yaml |
71.4% | 72.4% | 45/63 | 1 |
Polycystic_Ovary_Syndrome.yaml |
71.4% | 72.1% | 45/63 | |
IgG4-Related_Disease.yaml |
72.1% | 77.7% | 31/43 | |
Myotonic_Dystrophy_Type_1.yaml |
72.1% | 78.3% | 31/43 | |
Osteogenesis_Imperfecta_Type_I.yaml |
72.2% | 78.2% | 26/36 | |
Hereditary_Breast_and_Ovarian_Cancer_Syndrome.yaml |
72.4% | 71.8% | 76/105 | 1 |
HPV_Positive_Head_and_Neck_Cancer.yaml |
72.5% | 74.5% | 58/80 | 1 |
Focal_Segmental_Glomerulosclerosis.yaml |
72.5% | 76.2% | 95/131 | 1 |
Mixed_Connective_Tissue_Disease.yaml |
72.7% | 76.8% | 32/44 | |
ER_Positive_Breast_Cancer.yaml |
73.0% | 76.3% | 46/63 | 1 |
Pancreatic_Ductal_Adenocarcinoma.yaml |
73.1% | 76.4% | 114/156 | 1 |
PKP2_Cardiomyopathy.yaml |
73.2% | 78.0% | 60/82 | |
NARP_syndrome.yaml |
73.2% | 75.3% | 41/56 | 1 |
Spondyloepimetaphyseal_Dysplasia_Strudwick_Type.yaml |
73.3% | 82.5% | 96/131 | |
PHARC_syndrome.yaml |
73.3% | 76.6% | 44/60 | 1 |
Urea_Cycle_Disorder.yaml |
73.5% | 74.2% | 108/147 | 3 |
MSI_High_Endometrial_Cancer.yaml |
73.5% | 75.0% | 61/83 | 1 |
Bejel.yaml |
73.5% | 73.3% | 25/34 | |
BRAF_V600_Mutant_Melanoma.yaml |
73.7% | 76.0% | 73/99 | 1 |
Gorlin_Syndrome.yaml |
74.1% | 77.1% | 63/85 | 1 |
Papillary_Thyroid_Carcinoma.yaml |
74.1% | 77.5% | 43/58 | |
Osteoporosis.yaml |
74.3% | 75.6% | 75/101 | |
Crouzon_Syndrome_with_Acanthosis_Nigricans.yaml |
74.3% | 80.0% | 26/35 | |
Netherton_Syndrome.yaml |
74.4% | 80.0% | 154/207 | |
Thomsen_and_Becker_disease.yaml |
74.5% | 78.8% | 41/55 | 1 |
CTCF-related_Neurodevelopmental_Disorder.yaml |
74.7% | 78.4% | 71/95 | |
Ulcerative_Colitis.yaml |
74.8% | 75.4% | 119/159 | 1 |
Common_Variable_Immunodeficiency.yaml |
75.0% | 83.3% | 51/68 | |
Crouzon_Syndrome.yaml |
75.0% | 82.8% | 36/48 | |
Gastric_Ulcer.yaml |
75.0% | 80.0% | 6/8 | |
Takayasu_Arteritis.yaml |
75.0% | 81.1% | 27/36 | |
Leptospirosis.yaml |
75.6% | 84.5% | 229/303 | |
Hyperlipidemia.yaml |
76.1% | 82.6% | 159/209 | 1 |
Autism_Spectrum_Disorder.yaml |
76.1% | 79.2% | 70/92 | |
Rett_Syndrome.yaml |
76.1% | 80.7% | 35/46 | |
PCWH_syndrome.yaml |
76.2% | 80.1% | 61/80 | 1 |
Type_I_Diabetes.yaml |
76.4% | 74.8% | 201/263 | 5 |
Stickler_Syndrome_Type_1.yaml |
76.5% | 81.1% | 39/51 | |
Familial_Hypercholesterolemia.yaml |
76.5% | 82.0% | 150/196 | |
Fragile_X_Syndrome.yaml |
76.6% | 81.0% | 36/47 | |
Pouchitis.yaml |
76.6% | 81.7% | 36/47 | |
Testicular_Germ_Cell_Tumor.yaml |
76.6% | 78.5% | 59/77 | |
Campylobacteriosis.yaml |
76.7% | 83.2% | 145/189 | |
FICUS_syndrome.yaml |
76.9% | 86.1% | 60/78 | |
Tuberous_Sclerosis_Complex.yaml |
76.9% | 81.9% | 40/52 | |
Type_2_Diabetes_Mellitus.yaml |
77.1% | 80.6% | 84/109 | |
Rhabdoid_Tumor.yaml |
77.3% | 80.9% | 51/66 | |
Crohn_Disease.yaml |
77.5% | 77.1% | 231/298 | 2 |
BEST1_Bestrophinopathies.yaml |
77.5% | 81.2% | 69/89 | |
Diamond-Blackfan_Anemia.yaml |
77.8% | 80.3% | 84/108 | |
Gorham-Stout_disease.yaml |
77.8% | 80.6% | 42/54 | 1 |
Huntingtons_Disease.yaml |
77.8% | 80.6% | 175/225 | 1 |
Sengers_syndrome.yaml |
77.8% | 86.0% | 91/117 | |
ATTR_Amyloidosis.yaml |
77.8% | 76.3% | 200/257 | 2 |
Classic_Familial_Adenomatous_Polyposis.yaml |
77.8% | 85.7% | 165/212 | |
adrenoleukodystrophy.yaml |
78.1% | 80.4% | 50/64 | |
Proteus_syndrome.yaml |
78.5% | 86.6% | 124/158 | |
Bladder_Urothelial_Carcinoma.yaml |
78.8% | 82.1% | 63/80 | |
H3_K27_Altered_Diffuse_Midline_Glioma.yaml |
78.9% | 79.9% | 75/95 | 1 |
Multiple_Synostoses_Syndrome.yaml |
79.2% | 82.4% | 38/48 | |
neuroferritinopathy.yaml |
79.2% | 80.8% | 42/53 | |
Dacryocystitis-Osteopoikilosis_Syndrome.yaml |
79.3% | 82.7% | 65/82 | |
HIDEA_Syndrome.yaml |
79.4% | 83.0% | 54/68 | 2 |
Achoo_Syndrome.yaml |
79.8% | 86.6% | 71/89 | |
Hereditary_Hemorrhagic_Telangiectasia.yaml |
80.0% | 83.2% | 36/45 | |
Pilarowski-Bjornsson_syndrome.yaml |
80.0% | 82.6% | 32/40 | |
Shprintzen-Goldberg_Syndrome.yaml |
80.0% | 84.1% | 44/55 | |
Trachoma.yaml |
80.0% | 80.3% | 24/30 | |
Urticaria.yaml |
80.0% | 88.0% | 8/10 | |
Twin_to_Twin_Transfusion_Syndrome.yaml |
80.2% | 81.3% | 85/106 | |
Autosomal_Recessive_Osteopetrosis.yaml |
80.6% | 84.5% | 29/36 | 1 |
Cholangiocarcinoma.yaml |
80.7% | 83.1% | 67/83 | |
Marfan_Syndrome.yaml |
81.0% | 79.7% | 153/189 | 2 |
YWHAG_Syndrome.yaml |
81.1% | 83.5% | 60/74 | |
Alpha_Thalassemia.yaml |
81.1% | 84.2% | 86/106 | |
ADan_amyloidosis.yaml |
81.2% | 83.9% | 39/48 | |
Jackson-Weiss_Syndrome.yaml |
81.2% | 86.9% | 39/48 | |
Melanoma_in_Congenital_Melanocytic_Nevus.yaml |
81.3% | 81.9% | 113/139 | 1 |
Ebola_Virus_Disease_EVD.yaml |
81.3% | 80.2% | 135/166 | 2 |
Arsenic_Poisoning.yaml |
81.3% | 82.8% | 196/241 | 1 |
Furunculosis.yaml |
81.4% | 88.8% | 96/118 | |
Minimal_Change_Disease.yaml |
81.6% | 83.3% | 129/158 | |
Human_African_Trypanosomiasis.yaml |
81.7% | 80.6% | 49/60 | |
Hand_Foot_and_Mouth_Disease.yaml |
81.7% | 88.1% | 174/213 | |
Achondrogenesis_Type_II.yaml |
81.8% | 86.0% | 45/55 | |
Huppke-Brendel_syndrome.yaml |
81.8% | 83.7% | 54/66 | |
Neuromyelitis_Optica_Spectrum_Disorder.yaml |
81.8% | 84.2% | 45/55 | 1 |
Tay-Sachs_Disease.yaml |
81.8% | 85.2% | 54/66 | |
You-Hoover-Fong_Syndrome.yaml |
81.8% | 87.2% | 36/44 | |
Ehlers-Danlos_Syndrome.yaml |
82.1% | 80.8% | 170/207 | 1 |
Sandhoff_Disease.yaml |
82.3% | 84.4% | 93/113 | |
COL11A2_Hearing_Loss.yaml |
82.6% | 84.8% | 38/46 | |
Prostate_Adenocarcinoma.yaml |
82.6% | 85.8% | 57/69 | |
Hypochondrogenesis.yaml |
82.7% | 86.3% | 81/98 | |
Achondroplasia.yaml |
82.8% | 86.2% | 96/116 | |
Rheumatoid_Arthritis.yaml |
82.8% | 81.3% | 217/262 | 2 |
capillary_leak_syndrome.yaml |
83.0% | 85.3% | 39/47 | |
SUFU-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml |
83.1% | 88.1% | 59/71 | |
Primary_Ciliary_Dyskinesia.yaml |
83.2% | 84.7% | 173/208 | |
Fibrodysplasia_Ossificans_Progressiva.yaml |
83.3% | 86.3% | 70/84 | |
Leiomyosarcoma.yaml |
83.3% | 86.4% | 50/60 | |
Scurvy.yaml |
83.3% | 85.2% | 35/42 | |
Citrin_Deficiency.yaml |
83.5% | 85.1% | 106/127 | 2 |
Monkeypox.yaml |
83.5% | 83.0% | 152/182 | 2 |
Charlevoix-Saguenay_spastic_ataxia.yaml |
83.6% | 85.6% | 51/61 | |
Temple-Baraitser_Syndrome.yaml |
83.6% | 86.1% | 138/165 | |
Nestor-Guillermo_progeria_syndrome.yaml |
83.7% | 85.9% | 36/43 | |
Kawasaki_Disease.yaml |
83.8% | 83.9% | 145/173 | |
Ainhum.yaml |
83.9% | 89.9% | 47/56 | |
Mowat-Wilson_syndrome.yaml |
83.9% | 86.5% | 47/56 | |
Holt-Oram_Syndrome.yaml |
84.0% | 83.4% | 42/50 | 2 |
Parkinsons_Disease.yaml |
84.1% | 87.0% | 185/220 | |
Rabies.yaml |
84.1% | 84.3% | 37/44 | |
Van_Buchem_Disease.yaml |
84.2% | 87.6% | 32/38 | 1 |
NELABA.yaml |
84.3% | 86.6% | 75/89 | |
Dilated_Cardiomyopathy.yaml |
84.4% | 86.7% | 81/96 | |
Ehlers-Danlos_Syndrome_COL5A1-related.yaml |
84.4% | 84.7% | 108/128 | |
MED13_Syndrome.yaml |
84.4% | 85.8% | 81/96 | 1 |
Oculodentodigital_Dysplasia.yaml |
84.4% | 87.5% | 65/77 | |
Gaucher_Disease.yaml |
84.4% | 85.8% | 114/135 | 1 |
Esophageal_Squamous_Cell_Carcinoma.yaml |
84.5% | 87.1% | 87/103 | |
Lyme_Disease.yaml |
84.5% | 87.6% | 87/103 | |
Methylmalonic_Acidemia.yaml |
84.6% | 86.7% | 143/169 | 1 |
Arginase_Deficiency.yaml |
84.7% | 86.7% | 94/111 | 1 |
Taurodontism.yaml |
84.8% | 90.1% | 117/138 | |
Multisystem_Inflammatory_Syndrome_in_Children_MIS-C.yaml |
84.9% | 85.6% | 174/205 | 1 |
Polycystic_Kidney_Disease.yaml |
84.9% | 88.6% | 107/126 | 1 |
CHIME_syndrome.yaml |
85.0% | 88.0% | 51/60 | |
Hemophilia_B.yaml |
85.0% | 91.8% | 17/20 | |
Silent_Sinus_Syndrome.yaml |
85.0% | 86.5% | 34/40 | |
Thanatophoric_Dysplasia_Type_1.yaml |
85.1% | 86.4% | 148/174 | |
Labyrinthitis.yaml |
85.2% | 87.6% | 195/229 | 1 |
erythromelalgia.yaml |
85.2% | 86.8% | 46/54 | |
Kilquist_Syndrome.yaml |
85.3% | 85.4% | 58/68 | |
Dementia_with_Lewy_Bodies.yaml |
85.4% | 87.4% | 41/48 | |
Dieulafoy_Lesion.yaml |
85.4% | 86.8% | 41/48 | |
Ovarian_High-Grade_Serous_Carcinoma.yaml |
85.5% | 87.3% | 94/110 | |
Mitochondrial_Trifunctional_Protein_Deficiency.yaml |
85.6% | 86.1% | 119/139 | 2 |
22q11.2_Deletion_Syndrome.yaml |
85.7% | 89.1% | 66/77 | 1 |
Autoimmune_Encephalitis.yaml |
85.7% | 88.7% | 36/42 | 1 |
COL11A2_Skeletal_Spectrum.yaml |
85.7% | 88.2% | 72/84 | |
Dracunculiasis.yaml |
85.7% | 87.0% | 18/21 | |
Erdheim-Chester_Disease.yaml |
85.7% | 89.4% | 36/42 | |
Mycetoma.yaml |
85.7% | 86.4% | 24/28 | |
Bardet-Biedl_Syndrome.yaml |
86.0% | 87.5% | 92/107 | |
Buruli_Ulcer.yaml |
86.0% | 86.5% | 37/43 | |
Pallister-Hall_Syndrome.yaml |
86.0% | 89.1% | 37/43 | |
Tatton-Brown-Rahman_overgrowth_syndrome.yaml |
86.0% | 88.4% | 37/43 | |
Greig_Cephalopolysyndactyly.yaml |
86.1% | 89.2% | 31/36 | |
Osteopetrosis.yaml |
86.1% | 87.6% | 93/108 | |
Coffin-Lowry_Syndrome.yaml |
86.2% | 86.8% | 50/58 | |
D-2-Hydroxyglutaric_Aciduria.yaml |
86.3% | 87.3% | 113/131 | 2 |
Nephronophthisis.yaml |
86.3% | 85.6% | 145/168 | 1 |
Hypertrophic_Cardiomyopathy.yaml |
86.5% | 86.3% | 179/207 | 2 |
Chronic_Pancreatitis.yaml |
86.5% | 86.3% | 64/74 | 1 |
Pycnodysostosis.yaml |
86.5% | 90.8% | 32/37 | |
Mucopolysaccharidosis.yaml |
86.6% | 89.5% | 58/67 | |
Pompe_Disease.yaml |
86.6% | 90.0% | 58/67 | |
Systemic_Lupus_Erythematosus.yaml |
86.6% | 85.9% | 227/262 | 2 |
Heyn-Sproul-Jackson_syndrome.yaml |
86.7% | 89.0% | 39/45 | |
Long_QT_Syndrome.yaml |
86.7% | 89.8% | 78/90 | |
Noma.yaml |
86.7% | 87.3% | 26/30 | |
Joubert_syndrome.yaml |
86.8% | 87.8% | 282/325 | |
Congestive_Splenomegaly.yaml |
86.8% | 90.2% | 79/91 | |
Klinefelter_Syndrome.yaml |
86.8% | 87.1% | 112/129 | 1 |
Addisons_Disease.yaml |
86.8% | 86.2% | 165/190 | 2 |
Kummell_Disease.yaml |
86.9% | 87.9% | 113/130 | 1 |
Pseudohypoparathyroidism.yaml |
87.0% | 88.8% | 100/115 | |
Chemotherapy_Induced_Diarrhea.yaml |
87.1% | 88.8% | 74/85 | |
Alstrom_Syndrome.yaml |
87.1% | 89.1% | 101/116 | |
Muenke_Syndrome.yaml |
87.2% | 90.7% | 34/39 | |
Sclerosteosis.yaml |
87.2% | 91.4% | 34/39 | |
Spondylometaphyseal_Dysplasia_Kozlowski_Type.yaml |
87.2% | 89.9% | 68/78 | |
Classic_Hodgkin_Lymphoma.yaml |
87.4% | 89.1% | 83/95 | |
Pick_Disease.yaml |
87.4% | 87.2% | 104/119 | 2 |
Autosomal_Dominant_Osteopetrosis_Type_II.yaml |
87.5% | 91.5% | 35/40 | |
Camurati-Engelmann_Disease.yaml |
87.5% | 89.8% | 56/64 | |
Chromoblastomycosis.yaml |
87.5% | 88.2% | 35/40 | |
Loeys-Dietz_Syndrome.yaml |
87.5% | 89.3% | 91/104 | |
PTCH1-related_Nevoid_Basal_Cell_Carcinoma_Syndrome.yaml |
87.6% | 90.7% | 78/89 | |
Clear_Cell_Ovarian_Carcinoma.yaml |
87.7% | 89.7% | 57/65 | |
Narcolepsy.yaml |
87.7% | 89.7% | 57/65 | |
DeSanto-Shinawi_Syndrome.yaml |
87.8% | 88.1% | 43/49 | |
Friedreich_Ataxia.yaml |
87.8% | 90.9% | 43/49 | |
Hypertensive_Heart_Disease.yaml |
87.8% | 87.2% | 180/205 | 2 |
Ulnar-Mammary_Syndrome.yaml |
87.8% | 91.3% | 36/41 | |
46_XY_complete_gonadal_dysgenesis.yaml |
87.9% | 89.6% | 58/66 | |
Salla_Disease.yaml |
88.0% | 90.9% | 95/108 | 1 |
Alzheimer_Disease.yaml |
88.0% | 85.2% | 198/225 | 3 |
Chikungunya.yaml |
88.0% | 88.6% | 44/50 | |
Mesial_Temporal_Lobe_Epilepsy_with_Hippocampal_Sclerosis.yaml |
88.0% | 92.4% | 22/25 | |
Morgagni-Stewart-Morel_Syndrome.yaml |
88.0% | 88.8% | 125/142 | |
Hunter_syndrome.yaml |
88.1% | 90.3% | 74/84 | |
ZTTK_syndrome.yaml |
88.1% | 90.5% | 37/42 | |
Short_QT_Syndrome.yaml |
88.2% | 90.0% | 67/76 | |
Chronic_Obstructive_Pulmonary_Disease.yaml |
88.2% | 87.7% | 202/229 | 1 |
SMAD6-related_Craniosynostosis.yaml |
88.2% | 89.1% | 45/51 | |
Fanconi_Anemia.yaml |
88.3% | 89.3% | 723/819 | |
Bloom_Syndrome.yaml |
88.3% | 90.4% | 53/60 | |
Hypophosphatasia.yaml |
88.3% | 90.8% | 53/60 | |
Multiple_Acyl-CoA_Dehydrogenase_Deficiency.yaml |
88.4% | 89.1% | 129/146 | 1 |
Hemochromatosis.yaml |
88.4% | 90.6% | 76/86 | |
Nonketotic_Hyperglycinemia.yaml |
88.4% | 90.2% | 114/129 | |
Primary_Carnitine_Deficiency.yaml |
88.4% | 89.9% | 114/129 | 1 |
Transient_Neonatal_Pustular_Melanosis.yaml |
88.6% | 90.0% | 78/88 | |
Schinzel-Giedion_Syndrome.yaml |
88.7% | 88.7% | 47/53 | |
Tyrosinemia_Type_I.yaml |
88.7% | 89.9% | 102/115 | 1 |
Graves_Disease.yaml |
88.7% | 88.8% | 165/186 | 2 |
Maple_Syrup_Urine_Disease.yaml |
88.8% | 91.7% | 167/188 | |
Dorsalgia.yaml |
88.9% | 100.0% | 8/9 | |
Lichen_Simplex_Chronicus.yaml |
88.9% | 100.0% | 8/9 | |
Secondary_Hypertension.yaml |
88.9% | 100.0% | 8/9 | |
Visceral_Heterotaxy.yaml |
88.9% | 91.1% | 48/54 | |
Multiple_Sclerosis.yaml |
88.9% | 88.4% | 193/217 | |
Alagille_syndrome.yaml |
89.0% | 91.4% | 65/73 | |
Sezary_Syndrome.yaml |
89.1% | 90.9% | 98/110 | |
Glutaryl-CoA_Dehydrogenase_Deficiency.yaml |
89.1% | 92.4% | 139/156 | |
3-Hydroxy-3-Methylglutaric_Aciduria.yaml |
89.1% | 90.6% | 115/129 | 1 |
Carnitine_Palmitoyltransferase_II_Deficiency.yaml |
89.3% | 91.6% | 117/131 | |
Peroxisome_Biogenesis_Disorder.yaml |
89.3% | 88.3% | 176/197 | 2 |
Juvenile_Myelomonocytic_Leukemia.yaml |
89.4% | 90.3% | 101/113 | |
Chagas_Disease.yaml |
89.5% | 89.8% | 51/57 | |
Nijmegen_breakage_syndrome.yaml |
89.5% | 91.3% | 51/57 | |
Asthma.yaml |
89.5% | 88.6% | 264/295 | 1 |
Keratoderma_Hereditarium_Mutilans.yaml |
89.7% | 91.2% | 78/87 | |
N-Acetylglutamate_Synthase_Deficiency.yaml |
89.7% | 90.6% | 113/126 | 1 |
Wilms_Tumor.yaml |
89.7% | 90.7% | 192/214 | 1 |
Carbamoyl_Phosphate_Synthetase_I_Deficiency.yaml |
89.8% | 90.9% | 97/108 | 1 |
Malaria.yaml |
89.8% | 91.2% | 159/177 | 1 |
Esophageal_Adenocarcinoma.yaml |
89.9% | 92.9% | 71/79 | |
Acquired_Immunodeficiency_Syndrome.yaml |
90.0% | 90.1% | 153/170 | |
Brachyolmia.yaml |
90.0% | 91.3% | 108/120 | |
COPA_Syndrome.yaml |
90.0% | 91.9% | 54/60 | |
SADDAN.yaml |
90.0% | 93.2% | 54/60 | |
Temporal_Lobe_Epilepsy.yaml |
90.0% | 93.7% | 27/30 | |
CN_Related_DEE.yaml |
90.1% | 92.3% | 82/91 | 1 |
CINCA_Syndrome.yaml |
90.1% | 91.8% | 192/213 | 1 |
Timothy_Syndrome.yaml |
90.1% | 92.1% | 64/71 | |
Keipert_syndrome.yaml |
90.2% | 92.4% | 46/51 | |
Choroid_Plexus_Carcinoma.yaml |
90.2% | 92.7% | 83/92 | |
Hand-Foot-Genital_Syndrome.yaml |
90.2% | 93.3% | 37/41 | |
VLCAD_Deficiency.yaml |
90.3% | 91.4% | 139/154 | 1 |
Essential_Hypertension.yaml |
90.3% | 91.5% | 65/72 | |
Inherited_Threoninemia.yaml |
90.3% | 93.3% | 56/62 | |
pseudotumor_cerebri.yaml |
90.3% | 91.7% | 56/62 | |
Cough_Variant_Asthma.yaml |
90.4% | 91.9% | 66/73 | |
Argininosuccinic_Aciduria.yaml |
90.4% | 92.3% | 104/115 | 1 |
Osteoarthritis.yaml |
90.5% | 92.5% | 67/74 | |
Schizophrenia.yaml |
90.6% | 89.0% | 173/191 | 2 |
Brachydactyly_Type_A1.yaml |
90.6% | 94.3% | 29/32 | |
Idiopathic_Pulmonary_Fibrosis.yaml |
90.6% | 92.9% | 58/64 | |
Lipoic_Acid_Synthetase_Deficiency.yaml |
90.6% | 93.6% | 58/64 | |
TARP_syndrome.yaml |
90.7% | 93.4% | 68/75 | |
Carnitine-Acylcarnitine_Translocase_Deficiency.yaml |
90.7% | 91.5% | 127/140 | 2 |
Cholera.yaml |
90.9% | 89.6% | 299/329 | 1 |
Chemotherapy_Induced_Nausea_and_Vomiting.yaml |
90.9% | 92.9% | 50/55 | |
Kufor-Rakeb_syndrome.yaml |
90.9% | 93.4% | 50/55 | |
Malnutrition-related_Diabetes_Mellitus.yaml |
90.9% | 100.0% | 10/11 | |
Myalgic_Encephalomyelitis_Chronic_Fatigue_Syndrome.yaml |
90.9% | 95.3% | 80/88 | |
Short-Rib_Polydactyly_Syndrome.yaml |
91.1% | 93.8% | 51/56 | |
Empty_Nose_Syndrome.yaml |
91.1% | 91.2% | 143/157 | 1 |
Glucose-6-Phosphate_Dehydrogenase_G6PD_Deficiency.yaml |
91.1% | 91.3% | 143/157 | |
Folliculitis.yaml |
91.1% | 94.0% | 266/292 | |
Familial_Mediterranean_Fever.yaml |
91.1% | 90.2% | 123/135 | 4 |
Laryngotracheoesophageal_Cleft.yaml |
91.1% | 93.8% | 154/169 | |
Alpha_1_Antitrypsin_Deficiency.yaml |
91.1% | 92.9% | 72/79 | 1 |
Hereditary_von_Willebrand_Disease.yaml |
91.2% | 95.7% | 31/34 | |
Cannabis_Hyperemesis_Syndrome.yaml |
91.3% | 92.8% | 84/92 | |
Jeune_Asphyxiating_Thoracic_Dystrophy.yaml |
91.3% | 93.3% | 63/69 | |
Lipoyl_Transferase_1_Deficiency.yaml |
91.3% | 93.7% | 63/69 | |
Multicentric_Castleman_Disease.yaml |
91.3% | 93.3% | 63/69 | |
Raynaud_Disease.yaml |
91.3% | 96.3% | 84/92 | |
Sneddon_syndrome.yaml |
91.3% | 93.8% | 42/46 | |
CKD-Mineral_Bone_Disorder.yaml |
91.4% | 92.9% | 202/221 | |
Phenylketonuria.yaml |
91.4% | 93.2% | 234/256 | |
Holocarboxylase_Synthetase_Deficiency.yaml |
91.4% | 92.1% | 149/163 | 1 |
Pineoblastoma.yaml |
91.4% | 92.7% | 96/105 | |
Lowe_Syndrome.yaml |
91.5% | 92.8% | 86/94 | |
Malignant_Peritoneal_Mesothelioma.yaml |
91.5% | 92.6% | 108/118 | |
Alexander_Disease.yaml |
91.6% | 93.0% | 98/107 | |
Epidermolysis_Bullosa_Simplex.yaml |
91.6% | 92.6% | 131/143 | |
Colon_Adenocarcinoma.yaml |
91.7% | 90.0% | 22/24 | 1 |
Noonan_Syndrome.yaml |
91.7% | 94.6% | 220/240 | |
Propionic_Acidemia.yaml |
91.7% | 93.0% | 132/144 | 1 |
Prurigo_Nodularis.yaml |
91.7% | 100.0% | 11/12 | |
Vitiligo.yaml |
91.7% | 90.5% | 154/168 | 3 |
Otomycosis.yaml |
91.7% | 91.6% | 133/145 | 2 |
Postural_Orthostatic_Tachycardia_Syndrome.yaml |
91.8% | 93.4% | 101/110 | |
L-2-Hydroxyglutaric_Aciduria.yaml |
91.9% | 92.6% | 125/136 | 1 |
Cadmium_Poisoning.yaml |
92.0% | 92.5% | 240/261 | 1 |
Soil_Transmitted_Helminthiases.yaml |
92.0% | 92.3% | 69/75 | |
MMACHC-related_Methylmalonic_Aciduria_and_Homocystinuria_cblC_Type.yaml |
92.0% | 93.1% | 81/88 | |
Beta-Ketothiolase_Deficiency.yaml |
92.1% | 93.1% | 116/126 | 1 |
Cockayne_Syndrome.yaml |
92.1% | 93.7% | 116/126 | |
Huntington_Disease-like_2.yaml |
92.1% | 93.4% | 58/63 | |
Omodysplasia.yaml |
92.1% | 93.3% | 116/126 | |
Isobutyryl-CoA_Dehydrogenase_Deficiency.yaml |
92.2% | 93.3% | 118/128 | 1 |
choroid_plexus_carcinoma.yaml |
92.2% | 92.1% | 59/64 | |
Giardiasis.yaml |
92.2% | 94.3% | 238/258 | |
Proteasome_Associated_Autoinflammatory_Syndrome.yaml |
92.3% | 93.9% | 60/65 | |
Ornithine_Carbamoyltransferase_Deficiency.yaml |
92.4% | 93.7% | 109/118 | |
X-Linked_Hypophosphatemia.yaml |
92.4% | 95.3% | 61/66 | |
Chondrosarcoma.yaml |
92.5% | 94.3% | 98/106 | |
Leprosy.yaml |
92.5% | 93.6% | 49/53 | |
Non-Small_Cell_Lung_Cancer.yaml |
92.5% | 91.2% | 184/199 | 2 |
LRBA_Deficiency.yaml |
92.5% | 94.4% | 86/93 | |
Pelizaeus_Merzbacher_Disease.yaml |
92.6% | 94.0% | 137/148 | |
Ayme-Gripp_Syndrome.yaml |
92.6% | 92.9% | 50/54 | |
Metatropic_Dysplasia.yaml |
92.6% | 96.4% | 50/54 | |
STING_Associated_Vasculopathy_with_Onset_in_Infancy.yaml |
92.6% | 94.6% | 50/54 | |
Satoyoshi_Syndrome.yaml |
92.6% | 93.1% | 176/190 | 1 |
Brugada_Syndrome.yaml |
92.6% | 95.8% | 63/68 | |
CTLA4_Haploinsufficiency.yaml |
92.6% | 94.4% | 63/68 | |
Bird_Fanciers_Lung.yaml |
92.7% | 94.5% | 177/191 | 1 |
Central_Core_Myopathy.yaml |
92.7% | 95.1% | 76/82 | |
Citrullinemia_Type_I.yaml |
92.7% | 93.8% | 114/123 | |
CLOVES_Syndrome.yaml |
92.7% | 94.4% | 165/178 | |
Taeniasis_Cysticercosis.yaml |
92.7% | 93.6% | 51/55 | |
Isovaleric_Acidemia.yaml |
92.8% | 93.9% | 116/125 | 1 |
Aromatase_Deficiency.yaml |
92.9% | 93.9% | 104/112 | |
Atelosteogenesis_Type_I.yaml |
92.9% | 96.9% | 39/42 | |
Botulism.yaml |
92.9% | 100.0% | 13/14 | |
Junctional_Epidermolysis_Bullosa.yaml |
92.9% | 93.9% | 156/168 | |
Meckel_Syndrome.yaml |
92.9% | 93.8% | 195/210 | |
Renal_Cell_Carcinoma.yaml |
92.9% | 91.6% | 26/28 | 1 |
Hidradenitis_Suppurativa.yaml |
92.9% | 94.2% | 222/239 | |
Dystrophic_Epidermolysis_Bullosa.yaml |
92.9% | 93.8% | 171/184 | |
Ellis-van_Creveld_Syndrome.yaml |
93.0% | 95.3% | 66/71 | |
Tuberculosis.yaml |
93.0% | 93.1% | 173/186 | 1 |
Liberfarb_syndrome.yaml |
93.0% | 95.5% | 40/43 | |
Osteogenesis_Imperfecta_Type_V.yaml |
93.0% | 95.7% | 40/43 | |
Migraine.yaml |
93.0% | 94.1% | 107/115 | |
Menieres_Disease.yaml |
93.1% | 95.0% | 54/58 | |
Orofaciodigital_Syndrome_Type_I.yaml |
93.1% | 95.2% | 54/58 | |
Osteosarcoma.yaml |
93.1% | 92.3% | 27/29 | 1 |
Cleidocranial_Dysplasia.yaml |
93.2% | 97.1% | 41/44 | |
Kindler_Epidermolysis_Bullosa.yaml |
93.3% | 94.2% | 125/134 | |
Glycogen_Storage_Disease_Type_I.yaml |
93.3% | 94.6% | 154/165 | 1 |
Whipple_Disease.yaml |
93.4% | 94.5% | 99/106 | |
ANK2_Ankyrin_B_Syndrome.yaml |
93.4% | 95.2% | 71/76 | |
Apert_Syndrome.yaml |
93.5% | 94.4% | 143/153 | |
Leri-Weill_Dyschondrosteosis.yaml |
93.5% | 94.7% | 86/92 | |
Amyotrophic_Lateral_Sclerosis.yaml |
93.5% | 94.0% | 145/155 | |
Homocystinuria.yaml |
93.5% | 94.9% | 116/124 | 1 |
Pleuropulmonary_Blastoma.yaml |
93.6% | 94.7% | 131/140 | |
Parvovirus_B19_Infection.yaml |
93.7% | 93.4% | 134/143 | 1 |
Lafora_Disease.yaml |
93.8% | 95.1% | 76/81 | |
Thanatophoric_Dysplasia_Type_2.yaml |
93.8% | 94.1% | 122/130 | |
Collagenous_Sprue.yaml |
93.9% | 96.8% | 107/114 | |
Kniest_Dysplasia.yaml |
93.9% | 94.9% | 108/115 | 1 |
Clostridioides_difficile_Infection.yaml |
93.9% | 96.0% | 155/165 | |
RYR2_CPVT.yaml |
93.9% | 95.7% | 62/66 | |
Wilsons_Disease.yaml |
94.0% | 94.8% | 203/216 | 1 |
Contact_Dermatitis.yaml |
94.0% | 96.0% | 219/233 | |
Scabies.yaml |
94.0% | 95.4% | 47/50 | |
Atypical_Teratoid_Rhabdoid_Tumor.yaml |
94.0% | 95.4% | 63/67 | |
Breast_Fibroadenoma.yaml |
94.1% | 100.0% | 16/17 | |
Dengue.yaml |
94.1% | 100.0% | 16/17 | |
Infectious_Disease.yaml |
94.1% | 100.0% | 16/17 | |
Pancreatic_Mucinous_Cystadenoma.yaml |
94.1% | 95.3% | 96/102 | |
Fibrochondrogenesis.yaml |
94.2% | 95.3% | 98/104 | |
Chickenpox.yaml |
94.3% | 94.1% | 148/157 | 1 |
Lymphoma.yaml |
94.3% | 93.5% | 33/35 | 1 |
Galloway-Mowat_Syndrome.yaml |
94.3% | 95.6% | 116/123 | |
Leishmaniasis.yaml |
94.3% | 95.7% | 50/53 | |
Guanidinoacetate_Methyltransferase_Deficiency.yaml |
94.4% | 95.0% | 117/124 | 1 |
Transverse_Myelitis.yaml |
94.4% | 95.3% | 51/54 | 1 |
KRT1_Keratinopathies.yaml |
94.6% | 96.0% | 70/74 | |
Pilocytic_Astrocytoma.yaml |
94.6% | 96.0% | 88/93 | |
Congenital_Sucrase-Isomaltase_Deficiency.yaml |
94.6% | 96.6% | 53/56 | |
Koolen_de_Vries_syndrome.yaml |
94.7% | 96.8% | 54/57 | |
Lung_Carcinoma.yaml |
94.7% | 93.9% | 36/38 | 1 |
Spondylocarpotarsal_Synostosis_Syndrome.yaml |
94.7% | 97.7% | 54/57 | |
Sanfilippo_syndrome.yaml |
94.9% | 96.2% | 93/98 | |
Primary_Lateral_Sclerosis.yaml |
95.0% | 100.0% | 19/20 | |
Fabry_Disease.yaml |
95.0% | 97.5% | 96/101 | |
Atelosteogenesis_Type_III.yaml |
95.1% | 97.9% | 58/61 | |
Malignant_Peripheral_Nerve_Sheath_Tumor.yaml |
95.1% | 95.9% | 116/122 | |
Atelosteogenesis_Type_II.yaml |
95.2% | 98.0% | 59/62 | |
MEDNIK_syndrome.yaml |
95.2% | 97.0% | 60/63 | |
Mantle_Cell_Lymphoma.yaml |
95.2% | 96.6% | 200/210 | |
Biotinidase_Deficiency.yaml |
95.3% | 96.8% | 123/129 | |
Hirschsprung_Disease.yaml |
95.4% | 95.7% | 124/130 | |
Alcoholic_Liver_Disease.yaml |
95.5% | 93.8% | 21/22 | 1 |
Hurler_syndrome.yaml |
95.5% | 97.2% | 64/67 | |
Lymphatic_Filariasis.yaml |
95.5% | 96.7% | 64/67 | |
Diabetes_Mellitus.yaml |
95.6% | 95.7% | 586/613 | 2 |
Cushings_Syndrome.yaml |
95.7% | 98.0% | 44/46 | |
Ogden_syndrome.yaml |
95.7% | 97.3% | 66/69 | |
Semantic_Dementia.yaml |
95.7% | 100.0% | 22/23 | |
Snakebite_Envenoming.yaml |
95.7% | 100.0% | 22/23 | |
Tetanus.yaml |
95.7% | 95.2% | 66/69 | 1 |
Dientamoebiasis.yaml |
95.7% | 96.9% | 133/139 | |
Kabuki_Syndrome.yaml |
95.7% | 96.9% | 111/116 | |
Long-Chain_3-Hydroxyacyl-CoA_Dehydrogenase_Deficiency.yaml |
95.7% | 96.4% | 134/140 | 1 |
Cystic_Echinococcosis.yaml |
95.7% | 97.5% | 45/47 | |
Delayed_Sleep_Phase_Syndrome.yaml |
95.8% | 97.9% | 92/96 | |
Onchocerciasis.yaml |
95.8% | 97.6% | 46/48 | |
Primary_Progressive_Aphasia.yaml |
95.8% | 100.0% | 23/24 | |
Angelman_Syndrome.yaml |
96.1% | 97.5% | 223/232 | |
Peripheral_T_Cell_Lymphoma.yaml |
96.1% | 96.9% | 149/155 | |
Peutz_Jeghers_polyp.yaml |
96.2% | 98.4% | 75/78 | |
Stiff_Person_Syndrome.yaml |
96.2% | 97.5% | 76/79 | |
Refeeding_Syndrome.yaml |
96.3% | 98.1% | 103/107 | |
Diastrophic_Dysplasia.yaml |
96.3% | 97.6% | 130/135 | |
Psoriatic_Arthritis.yaml |
96.3% | 100.0% | 26/27 | |
Cori_Forbes_Disease.yaml |
96.3% | 98.5% | 79/82 | |
Hospital-Acquired_Acute_Kidney_Injury.yaml |
96.4% | 97.2% | 133/138 | |
Campomelic_Dysplasia.yaml |
96.5% | 98.9% | 55/57 | |
Lane_Hamilton_Syndrome.yaml |
96.5% | 98.5% | 83/86 | |
Lead_Poisoning.yaml |
96.5% | 97.5% | 251/260 | 1 |
Shigellosis.yaml |
96.6% | 96.6% | 113/117 | 1 |
Anaplastic_Large_Cell_Lymphoma.yaml |
96.6% | 97.6% | 115/119 | |
Acne_Vulgaris.yaml |
96.7% | 97.7% | 207/214 | |
Multiple_Myeloma.yaml |
96.7% | 98.0% | 89/92 | |
Rosacea.yaml |
96.8% | 97.5% | 268/277 | |
FOXE3_Anterior_Segment_Dysgenesis.yaml |
96.8% | 98.4% | 60/62 | |
Scimitar_Syndrome.yaml |
96.9% | 97.7% | 124/128 | |
Obesity_Due_to_MC4R_Pathway_Disruption.yaml |
96.9% | 97.9% | 94/97 | |
Grange_syndrome.yaml |
96.9% | 98.4% | 63/65 | |
Yaws.yaml |
97.0% | 100.0% | 32/33 | |
Melkersson_Rosenthal_syndrome.yaml |
97.0% | 98.7% | 97/100 | |
Metaphyseal_Chondrodysplasia_Schmid_Type.yaml |
97.0% | 97.8% | 131/135 | |
Bells_Palsy.yaml |
97.1% | 98.1% | 132/136 | |
Mycosis_Fungoides.yaml |
97.2% | 97.6% | 103/106 | 1 |
Roifman-syndrome.yaml |
97.2% | 98.5% | 69/71 | |
Travelers_Diarrhea.yaml |
97.2% | 98.7% | 69/71 | |
Holt_Oram.yaml |
97.2% | 99.1% | 70/72 | |
Spondyloepiphyseal_Dysplasia_Congenita.yaml |
97.3% | 98.1% | 145/149 | |
Wissler_syndrome.yaml |
97.4% | 99.1% | 74/76 | |
Acromesomelic_Dysplasia_Maroteaux_Type.yaml |
97.4% | 98.8% | 75/77 | |
Larsen_Syndrome.yaml |
97.4% | 99.2% | 75/77 | |
Membranous_Nephropathy.yaml |
97.4% | 98.3% | 113/116 | |
Foodborne_Trematodiases.yaml |
97.6% | 100.0% | 40/41 | |
Schneckenbecken_Dysplasia.yaml |
97.6% | 98.8% | 81/83 | |
Menkes_Disease.yaml |
97.7% | 97.8% | 126/129 | |
Bacterial_meningitis.yaml |
97.7% | 98.3% | 255/261 | |
Osteogenesis_Imperfecta_Type_IV.yaml |
97.7% | 100.0% | 43/44 | |
Smith-Lemli-Opitz_syndrome.yaml |
97.9% | 99.0% | 92/94 | |
Nemaline_Myopathy.yaml |
97.9% | 97.9% | 285/291 | |
Ludwigs_Angina.yaml |
98.0% | 99.4% | 98/100 | |
Coccidioidomycosis.yaml |
98.0% | 99.2% | 150/153 | |
Metastatic_Gastric_Cancer.yaml |
98.0% | 100.0% | 50/51 | |
Polycystic_Echinococcosis.yaml |
98.0% | 100.0% | 50/51 | |
Meckel_Diverticulum.yaml |
98.1% | 100.0% | 51/52 | |
Osteogenesis_Imperfecta_Type_III.yaml |
98.1% | 100.0% | 51/52 | |
Antiphospholipid_Syndrome.yaml |
98.2% | 98.7% | 268/273 | |
Schistosomiasis.yaml |
98.2% | 100.0% | 54/55 | |
Coffin_Siris_Syndrome.yaml |
98.2% | 99.2% | 163/166 | |
Jeavons_Syndrome.yaml |
98.2% | 99.0% | 110/112 | |
Meacham_syndrome.yaml |
98.2% | 100.0% | 56/57 | |
Hepatitis_B.yaml |
98.3% | 98.4% | 231/235 | |
Retrograde_Cricopharyngeus_Dysfunction.yaml |
98.3% | 100.0% | 59/60 | |
Auto-Brewery_Syndrome.yaml |
98.4% | 100.0% | 63/64 | |
Erythrokeratodermia_Variabilis.yaml |
98.5% | 100.0% | 67/68 | |
Chorea-acanthocytosis.yaml |
98.6% | 100.0% | 68/69 | |
Axenfeld-Rieger_syndrome.yaml |
98.6% | 98.9% | 142/144 | 1 |
46_XX_Gonadal_Dysgenesis.yaml |
98.6% | 100.0% | 72/73 | |
Visual_Snow_Syndrome.yaml |
98.6% | 100.0% | 72/73 | |
Cholesteatoma.yaml |
98.6% | 99.1% | 218/221 | |
Cronkhite-Canada_syndrome.yaml |
98.8% | 100.0% | 81/82 | |
Hashimotos_Thyroiditis.yaml |
98.8% | 99.2% | 81/82 | |
Houge-Janssens_Syndrome.yaml |
98.8% | 99.4% | 162/164 | |
Akinetopsia.yaml |
98.8% | 100.0% | 83/84 | |
Waldenstrom_Macroglobulinemia.yaml |
98.8% | 100.0% | 83/84 | |
Wolf-Hirschhorn_Syndrome.yaml |
98.8% | 100.0% | 84/85 | |
MECP2_Duplication_Syndrome.yaml |
98.9% | 100.0% | 91/92 | |
Chronic_Myelomonocytic_Leukemia.yaml |
99.1% | 100.0% | 105/106 | |
Epidermolysis_Bullosa.yaml |
99.1% | 99.4% | 210/212 | |
Spinocerebellar_Ataxia_Type_17.yaml |
99.1% | 100.0% | 106/107 | |
Hairy_Cell_Leukemia.yaml |
99.1% | 100.0% | 109/110 | |
Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml |
99.1% | 100.0% | 116/117 | |
Opsismodysplasia.yaml |
99.2% | 100.0% | 126/127 | |
Pars_Planitis.yaml |
99.2% | 100.0% | 130/131 | |
Cogan_Syndrome.yaml |
99.3% | 100.0% | 146/147 | |
Long_COVID.yaml |
99.7% | 99.8% | 338/339 | |
Lynch_Syndrome.yaml |
100.0% | 100.0% | 204/204 | |
Meningioma.yaml |
100.0% | 100.0% | 116/116 | |
Osteogenesis_Imperfecta_Type_VII.yaml |
100.0% | 100.0% | 53/53 | |
Semicircular_Canal_Dehiscence_Syndrome.yaml |
100.0% | 100.0% | 119/119 |
Not Yet Curated Disease Links
Found 184 referenced MONDO disease terms without local pages across 192 linking page references.
MONDO Curation Priorities
5 of 7 MONDO candidates remain after accounting for 2 already curated diseases. Top remaining candidate: neurodevelopmental disorder with microcephaly, ataxia, and seizures (50.0).