Id: | gene_properties/gene_sets/disease |
Type: | gene_set_collection |
Version: | 0 |
Summary: |
Gene-disease associations |
Description: |
N/A
|
Labels: |
Number of gene sets: 1280
Number of unique genes: 1777
Gene Set | Gene Count | Description |
---|---|---|
Deafness | 41 | Deafness |
Leukemia | 37 | Leukemia |
Colon_cancer | 34 | Colon_cancer |
Retinitis_pigmentosa | 30 | Retinitis_pigmentosa |
Diabetes_mellitus | 27 | Diabetes_mellitus |
Cardiomyopathy | 25 | Cardiomyopathy |
Mental_retardation | 24 | Mental_retardation |
Blood_group | 23 | Blood_group |
Obesity | 21 | Obesity |
Breast_cancer | 19 | Breast_cancer |
Muscular_dystrophy | 18 | Muscular_dystrophy |
Charcot-Marie-Tooth_disease | 18 | Charcot-Marie-Tooth_disease |
Epilepsy | 17 | Epilepsy |
Cataract | 15 | Cataract |
Congenital_disorder_of_glycosylation | 13 | Congenital_disorder_of_glycosylation |
Complementary_component_deficiency | 13 | Complementary_component_deficiency |
Asthma | 13 | Asthma |
Spinocereballar_ataxia | 13 | Spinocereballar_ataxia |
Hypertension | 12 | Hypertension |
Alzheimer_disease | 12 | Alzheimer_disease |
Prostate_cancer | 12 | Prostate_cancer |
Leigh_syndrome | 12 | Leigh_syndrome |
Parkinson_disease | 11 | Parkinson_disease |
Epidermolysis_bullosa | 11 | Epidermolysis_bullosa |
Zellweger_syndrome | 11 | Zellweger_syndrome |
Thyroid_carcinoma | 11 | Thyroid_carcinoma |
Fanconi_anemia | 11 | Fanconi_anemia |
Myopathy | 10 | Myopathy |
Myocardial_infarction | 10 | Myocardial_infarction |
Hemolytic_anemia | 10 | Hemolytic_anemia |
Lymphoma | 10 | Lymphoma |
Gastric_cancer | 10 | Gastric_cancer |
Ehlers-Danlos_syndrome | 9 | Ehlers-Danlos_syndrome |
Schizophrenia | 9 | Schizophrenia |
Anemia | 9 | Anemia |
Glycogen_storage_disease | 9 | Glycogen_storage_disease |
Pancreatic_cancer | 9 | Pancreatic_cancer |
Thrombophilia | 9 | Thrombophilia |
Spastic_ataxia/paraplegia | 9 | Spastic_ataxia/paraplegia |
Hypercholesterolemia | 8 | Hypercholesterolemia |
Factor_x_deficiency | 8 | Factor_x_deficiency |
Usher_syndrome | 8 | Usher_syndrome |
Ovarian_cancer | 8 | Ovarian_cancer |
Xeroderma_pigmentosum | 8 | Xeroderma_pigmentosum |
Hepatic_adenoma | 8 | Hepatic_adenoma |
Neuropathy | 8 | Neuropathy |
Severe_combined_immunodeficiency | 8 | Severe_combined_immunodeficiency |
Rheumatoid_arthritis | 8 | Rheumatoid_arthritis |
Bardet-Biedl_syndrome | 8 | Bardet-Biedl_syndrome |
Ectodermal_dysplasia | 8 | Ectodermal_dysplasia |
Cone_dystrophy | 7 | Cone_dystrophy |
Osteoporosis | 7 | Osteoporosis |
Hermansky-Pudlak_syndrome | 7 | Hermansky-Pudlak_syndrome |
Spinal_muscular_atrophy | 7 | Spinal_muscular_atrophy |
Long_QT_syndrome | 7 | Long_QT_syndrome |
Hypothyroidism | 7 | Hypothyroidism |
Mucopolysaccharidosis | 7 | Mucopolysaccharidosis |
Leber_congenital_amaurosis | 7 | Leber_congenital_amaurosis |
Ichthyosis | 7 | Ichthyosis |
Mitochondrial_complex_deficiency | 7 | Mitochondrial_complex_deficiency |
Renal_cell_carcinoma | 7 | Renal_cell_carcinoma |
Myasthenic_syndrome | 7 | Myasthenic_syndrome |
Corneal_dystrophy | 7 | Corneal_dystrophy |
Hirschsprung_disease | 7 | Hirschsprung_disease |
Amyloidosis | 6 | Amyloidosis |
Dystonia | 6 | Dystonia |
Coronary_artery_disease | 6 | Coronary_artery_disease |
Porphyria | 6 | Porphyria |
Immunodeficiency | 6 | Immunodeficiency |
MODY | 6 | MODY |
Pseudohypoaldosteronism | 6 | Pseudohypoaldosteronism |
Dementia | 6 | Dementia |
Ceroid-lipofuscinosis | 6 | Ceroid-lipofuscinosis |
Amyotrophic_lateral_sclerosis | 6 | Amyotrophic_lateral_sclerosis |
Epiphyseal_dysplasia | 6 | Epiphyseal_dysplasia |
Adrenoleukodystrophy | 6 | Adrenoleukodystrophy |
Bartter_syndrome | 5 | Bartter_syndrome |
Malaria | 5 | Malaria |
Spondyloepiphyseal_dysplasia | 5 | Spondyloepiphyseal_dysplasia |
Holoprosencephaly | 5 | Holoprosencephaly |
Thalassemias | 5 | Thalassemias |
Leukoencephalopathy_with_vanishing_white_matter | 5 | Leukoencephalopathy_with_vanishing_white_matter |
Atopy | 5 | Atopy |
Lipodystrophy | 5 | Lipodystrophy |
Brachydactyly | 5 | Brachydactyly |
Night_blindness | 5 | Night_blindness |
Spherocytosis | 5 | Spherocytosis |
Microcephaly | 5 | Microcephaly |
Central_hypoventilation_syndrome | 5 | Central_hypoventilation_syndrome |
Bare_lymphocyte_syndrome | 5 | Bare_lymphocyte_syndrome |
Renal_tubular_acidosis | 5 | Renal_tubular_acidosis |
Refsum_disease | 5 | Refsum_disease |
Melanoma | 5 | Melanoma |
Macular_dystrophy | 5 | Macular_dystrophy |
Glioblastoma | 5 | Glioblastoma |
Mycobacterial_infection | 5 | Mycobacterial_infection |
Macular_degeneration | 5 | Macular_degeneration |
Ataxia | 5 | Ataxia |
Atrial_fibrillation | 5 | Atrial_fibrillation |
Hemochromatosis | 5 | Hemochromatosis |
Osteoarthritis | 4 | Osteoarthritis |
Esophageal_cancer | 4 | Esophageal_cancer |
Trichothiodystrophy | 4 | Trichothiodystrophy |
Myelogenous_leukemia | 4 | Myelogenous_leukemia |
Apolipoprotein_deficiency | 4 | Apolipoprotein_deficiency |
Amelogenesis_imperfecta | 4 | Amelogenesis_imperfecta |
Keratosis_palmoplantaria_striata | 4 | Keratosis_palmoplantaria_striata |
Agammaglobulinemia | 4 | Agammaglobulinemia |
Dejerine-Sottas_disease | 4 | Dejerine-Sottas_disease |
Waardenburg_syndrome | 4 | Waardenburg_syndrome |
Glycine_encephalopathy | 4 | Glycine_encephalopathy |
Renal_tubular_dysgenesis | 4 | Renal_tubular_dysgenesis |
Wilms_tumor | 4 | Wilms_tumor |
Anterior_segment_anomalies_and_cataract | 4 | Anterior_segment_anomalies_and_cataract |
Glutaricaciduria | 4 | Glutaricaciduria |
Autism | 4 | Autism |
Glaucoma | 4 | Glaucoma |
Systemic_lupus_erythematosus | 4 | Systemic_lupus_erythematosus |
"Adrenal_hyperplasia,_congenital" | 4 | "Adrenal_hyperplasia,_congenital" |
Cholestasis | 4 | Cholestasis |
Huntington_disease | 4 | Huntington_disease |
Hypotrichosis | 4 | Hypotrichosis |
Osteopetrosis | 4 | Osteopetrosis |
Beckwith-Wiedemann_syndrome | 4 | Beckwith-Wiedemann_syndrome |
Chronic_granulomatous_disease | 4 | Chronic_granulomatous_disease |
Hypertriglyceridemia | 4 | Hypertriglyceridemia |
Rhabdomyosarcoma | 4 | Rhabdomyosarcoma |
Thrombocytopenia | 4 | Thrombocytopenia |
Lung_cancer | 4 | Lung_cancer |
Pachyonychia_congenita | 4 | Pachyonychia_congenita |
Bladder_cancer | 4 | Bladder_cancer |
Endometrial_carcinoma | 4 | Endometrial_carcinoma |
Lissencephaly | 4 | Lissencephaly |
Nemaline_myopathy | 4 | Nemaline_myopathy |
HIV | 4 | HIV |
Migraine | 4 | Migraine |
Basal_cell_carcinoma | 4 | Basal_cell_carcinoma |
Autoimmune_disease | 4 | Autoimmune_disease |
Maple_syrup_urine_disease | 4 | Maple_syrup_urine_disease |
Elliptocytosis | 4 | Elliptocytosis |
Pituitary_hormone_deficiency | 4 | Pituitary_hormone_deficiency |
Neutropenia | 4 | Neutropenia |
Nephronophthisis | 4 | Nephronophthisis |
Pulmonary_fibrosis | 4 | Pulmonary_fibrosis |
Polycystic_kidney_disease | 4 | Polycystic_kidney_disease |
Adenocarcinoma | 4 | Adenocarcinoma |
Platelet_defect/deficiency | 4 | Platelet_defect/deficiency |
Hypogonadotropic_hypogonadism | 4 | Hypogonadotropic_hypogonadism |
Retinal_cone_dsytrophy | 4 | Retinal_cone_dsytrophy |
Methemoglobinemia | 4 | Methemoglobinemia |
Meningioma | 4 | Meningioma |
Ovarioleukodystrophy | 3 | Ovarioleukodystrophy |
Hypoparathyroidism | 3 | Hypoparathyroidism |
Microphthalmia | 3 | Microphthalmia |
Ocular_albinism | 3 | Ocular_albinism |
Metaphyseal_chondrodysplasia | 3 | Metaphyseal_chondrodysplasia |
Hypokalemic_periodic_paralysis | 3 | Hypokalemic_periodic_paralysis |
Hypomagnesemia | 3 | Hypomagnesemia |
Fundus_albipunctatus | 3 | Fundus_albipunctatus |
Heinz_body_anemia | 3 | Heinz_body_anemia |
Turcot_syndrome | 3 | Turcot_syndrome |
Aplastic_anemia | 3 | Aplastic_anemia |
Cutis_laxa | 3 | Cutis_laxa |
Myelodysplastic_syndrome | 3 | Myelodysplastic_syndrome |
Arthrogryposis | 3 | Arthrogryposis |
Senior-Loken_syndrome | 3 | Senior-Loken_syndrome |
Adenomas | 3 | Adenomas |
Chondrosarcoma | 3 | Chondrosarcoma |
Alport_syndrome | 3 | Alport_syndrome |
Myoclonic_epilepsy | 3 | Myoclonic_epilepsy |
Cerebral_cavernous_malformations | 3 | Cerebral_cavernous_malformations |
Nicotine_addiction | 3 | Nicotine_addiction |
Lipoma | 3 | Lipoma |
Preeclampsia | 3 | Preeclampsia |
Omenn_syndrome | 3 | Omenn_syndrome |
AIDS | 3 | AIDS |
Tyrosinemia | 3 | Tyrosinemia |
Pancreatitis | 3 | Pancreatitis |
Short_stature | 3 | Short_stature |
Pyruvate_dehydrogenase_deficiency | 3 | Pyruvate_dehydrogenase_deficiency |
Erythrokeratoderma | 3 | Erythrokeratoderma |
Obsessive-compulsive_disorder | 3 | Obsessive-compulsive_disorder |
Hypercholanemia | 3 | Hypercholanemia |
Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions | 3 | Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions |
Phenylketonuria | 3 | Phenylketonuria |
Exudative_vitreoretinopathy | 3 | Exudative_vitreoretinopathy |
Squamous_cell_carcinoma | 3 | Squamous_cell_carcinoma |
Albinism | 3 | Albinism |
Insulin_resistance | 3 | Insulin_resistance |
Inclusion_body_myopathy | 3 | Inclusion_body_myopathy |
Diabetes_insipidus | 3 | Diabetes_insipidus |
Chondrodysplasia_punctata | 3 | Chondrodysplasia_punctata |
Bernard-Soulier_syndrome | 3 | Bernard-Soulier_syndrome |
Nonsmall_cell_lung_cancer | 3 | Nonsmall_cell_lung_cancer |
Hyperparathyroidism | 3 | Hyperparathyroidism |
Epidermolytic_hyperkeratosis | 3 | Epidermolytic_hyperkeratosis |
Methylmalonic_aciduria | 3 | Methylmalonic_aciduria |
Cerebrooculofacioskeletal_syndrome | 3 | Cerebrooculofacioskeletal_syndrome |
Molybdenum_cofactor_deficiency | 3 | Molybdenum_cofactor_deficiency |
Dysfibrinogenemia | 3 | Dysfibrinogenemia |
Cirrhosis | 3 | Cirrhosis |
Mucolipidosis | 3 | Mucolipidosis |
Pituitary_ACTH-secreting_adenoma | 3 | Pituitary_ACTH-secreting_adenoma |
Tuberous_sclerosis | 3 | Tuberous_sclerosis |
Cleft_palate | 3 | Cleft_palate |
Colorblindness | 3 | Colorblindness |
Ullrich_congenital_muscular_dystrophy | 3 | Ullrich_congenital_muscular_dystrophy |
Achromatopsia | 3 | Achromatopsia |
"Acyl-CoA_dehydrogenase,_deficiency_of" | 3 | "Acyl-CoA_dehydrogenase,_deficiency_of" |
Griscelli_syndrome | 3 | Griscelli_syndrome |
Paget_disease | 3 | Paget_disease |
Arrhythmogenic_right_ventricular_dysplasia | 3 | Arrhythmogenic_right_ventricular_dysplasia |
Bethlem_myopathy | 3 | Bethlem_myopathy |
Ventricular_tachycardia | 3 | Ventricular_tachycardia |
Sarcoidosis | 3 | Sarcoidosis |
Niemann-Pick_disease | 3 | Niemann-Pick_disease |
Paragangliomas | 3 | Paragangliomas |
Ichthyosiform_erythroderma | 3 | Ichthyosiform_erythroderma |
Kartagener_syndrome | 3 | Kartagener_syndrome |
Warfarin_resistance/sensitivity | 3 | Warfarin_resistance/sensitivity |
Tetralogy_of_Fallot | 3 | Tetralogy_of_Fallot |
Stickler_syndrome | 3 | Stickler_syndrome |
Neurofibromatosis | 3 | Neurofibromatosis |
Walker-Warburg_syndrome | 3 | Walker-Warburg_syndrome |
HPFH | 3 | HPFH |
Spina_bifida | 3 | Spina_bifida |
GM-gangliosidosis | 3 | GM-gangliosidosis |
Glomerulosclerosis | 3 | Glomerulosclerosis |
Atrioventricular_block | 3 | Atrioventricular_block |
Carbohydrate-deficient_glycoprotein_syndrome | 3 | Carbohydrate-deficient_glycoprotein_syndrome |
Pheochromocytoma | 3 | Pheochromocytoma |
Nephrotic_syndrome | 2 | Nephrotic_syndrome |
Peters_anomaly | 2 | Peters_anomaly |
Stargardt_disease | 2 | Stargardt_disease |
Premature_ovarian_failure | 2 | Premature_ovarian_failure |
Vitamin_K-dependent_coagulation_defect | 2 | Vitamin_K-dependent_coagulation_defect |
Encephalopathy | 2 | Encephalopathy |
Myotonia_congenita | 2 | Myotonia_congenita |
Carney_complex | 2 | Carney_complex |
White_sponge_nevus | 2 | White_sponge_nevus |
Multiple_myeloma | 2 | Multiple_myeloma |
Peroxisomal_biogenesis_disorder | 2 | Peroxisomal_biogenesis_disorder |
Craniosynostosis | 2 | Craniosynostosis |
Parathyroid_adenoma | 2 | Parathyroid_adenoma |
Mannosidosis | 2 | Mannosidosis |
Iron_overload/deficiency | 2 | Iron_overload/deficiency |
Sitosterolemia | 2 | Sitosterolemia |
Insomnia | 2 | Insomnia |
Combined_immunodeficiency | 2 | Combined_immunodeficiency |
Li-Fraumeni_syndrome | 2 | Li-Fraumeni_syndrome |
Waardenburg-Shah_syndrome | 2 | Waardenburg-Shah_syndrome |
Intrauterine_and_postnatal_growth_retardation | 2 | Intrauterine_and_postnatal_growth_retardation |
"Calcinosis,_tumoral" | 2 | "Calcinosis,_tumoral" |
Congestive_heart_failure | 2 | Congestive_heart_failure |
Ectopia | 2 | Ectopia |
Hypophosphatemia | 2 | Hypophosphatemia |
Synpolydactyly | 2 | Synpolydactyly |
Rieger_syndrome | 2 | Rieger_syndrome |
Vohwinkel_syndrome | 2 | Vohwinkel_syndrome |
Tuberculosis | 2 | Tuberculosis |
Graves_disease | 2 | Graves_disease |
Thyroid_hormone_resistance | 2 | Thyroid_hormone_resistance |
Lymphedema | 2 | Lymphedema |
Muscle_hypertrophy | 2 | Muscle_hypertrophy |
"CPT_deficiency,_hepatic" | 2 | "CPT_deficiency,_hepatic" |
Erythremias | 2 | Erythremias |
Growth_hormone | 2 | Growth_hormone |
Generalized_epilepsy | 2 | Generalized_epilepsy |
Lymphangioleiomyomatosis | 2 | Lymphangioleiomyomatosis |
Multiple_sclerosis | 2 | Multiple_sclerosis |
Acromegaly | 2 | Acromegaly |
Ovarian_dysgenesis | 2 | Ovarian_dysgenesis |
Spondylocostal_dysostosis | 2 | Spondylocostal_dysostosis |
Subcortical_laminar_heterotopia | 2 | Subcortical_laminar_heterotopia |
Liddle_syndrome | 2 | Liddle_syndrome |
Urolithiasise | 2 | Urolithiasise |
Nasu-Hakola_disease | 2 | Nasu-Hakola_disease |
Thrombocythemia | 2 | Thrombocythemia |
Cerebellar_ataxia | 2 | Cerebellar_ataxia |
Situs_ambiguus | 2 | Situs_ambiguus |
Cortisone_reductase_deficiency | 2 | Cortisone_reductase_deficiency |
Emery-Dreifuss_muscular_dystrophy | 2 | Emery-Dreifuss_muscular_dystrophy |
Cancer_susceptibility | 2 | Cancer_susceptibility |
Asperger_syndrome | 2 | Asperger_syndrome |
HMG-CoA_deficiency | 2 | HMG-CoA_deficiency |
Polycythemia | 2 | Polycythemia |
Crohn_disease | 2 | Crohn_disease |
Rh-negative_blood_type | 2 | Rh-negative_blood_type |
Nephrolithiasis | 2 | Nephrolithiasis |
Hyperprolinemia | 2 | Hyperprolinemia |
Bradyopsia | 2 | Bradyopsia |
Megaloblastic_anemia | 2 | Megaloblastic_anemia |
Fibromatosisl | 2 | Fibromatosisl |
Osteolysis | 2 | Osteolysis |
Hemorrhagic_diathesis | 2 | Hemorrhagic_diathesis |
Weill-Marchesani_syndrome | 2 | Weill-Marchesani_syndrome |
Germ_cell_tumor | 2 | Germ_cell_tumor |
Roussy-Levy_syndrome | 2 | Roussy-Levy_syndrome |
Kallmann_syndrome | 2 | Kallmann_syndrome |
Parietal_foramina | 2 | Parietal_foramina |
Rubenstein-Taybi_syndrome | 2 | Rubenstein-Taybi_syndrome |
"Sarcoma,_synovial" | 2 | "Sarcoma,_synovial" |
Gonadal_dysgenesis | 2 | Gonadal_dysgenesis |
"Pseudohermaphroditism,_male" | 2 | "Pseudohermaphroditism,_male" |
Hereditary_hemorrhagic_telangiectasia | 2 | Hereditary_hemorrhagic_telangiectasia |
Surfactant_deficiency | 2 | Surfactant_deficiency |
Cystinuria | 2 | Cystinuria |
Hyperoxaluria | 2 | Hyperoxaluria |
Hemophilia | 2 | Hemophilia |
Ellis-van_Creveld_syndrome | 2 | Ellis-van_Creveld_syndrome |
Rett_syndrome | 2 | Rett_syndrome |
Jervell_and_Lange-Nielsen_syndrome | 2 | Jervell_and_Lange-Nielsen_syndrome |
Hypermethioninemia | 2 | Hypermethioninemia |
"Hypolactasia,_adult_type" | 2 | "Hypolactasia,_adult_type" |
Hypodontia | 2 | Hypodontia |
Meesmann_corneal_dystrophy | 2 | Meesmann_corneal_dystrophy |
Gaucher_disease | 2 | Gaucher_disease |
Polycystic_liver_disease | 2 | Polycystic_liver_disease |
Argininemia | 2 | Argininemia |
Episodic_ataxia | 2 | Episodic_ataxia |
Sepsis | 2 | Sepsis |
Left-right_axis_malformations | 2 | Left-right_axis_malformations |
Acromesomelic_dysplasia | 2 | Acromesomelic_dysplasia |
(null) | 2 | (null) |
Hemangioma | 2 | Hemangioma |
Atelosteogenesis | 2 | Atelosteogenesis |
Bombay_phenotype | 2 | Bombay_phenotype |
Citrullinemia | 2 | Citrullinemia |
"Complex_mitochondrial_respiratory_chain,_deficiency_of" | 2 | "Complex_mitochondrial_respiratory_chain,_deficiency_of" |
Hemophagocytic_lymphohistiocytosis | 2 | Hemophagocytic_lymphohistiocytosis |
HDL_cholesterol_level_QTL | 2 | HDL_cholesterol_level_QTL |
Dyskeratosis | 2 | Dyskeratosis |
Joubert_syndrome | 2 | Joubert_syndrome |
Sanfilippo_syndrome | 2 | Sanfilippo_syndrome |
Cafe-au-lait_spots | 2 | Cafe-au-lait_spots |
Erythrocytosis | 2 | Erythrocytosis |
Fibrosis | 2 | Fibrosis |
Angelman_syndrome | 2 | Angelman_syndrome |
DNA_topoisomerase | 2 | DNA_topoisomerase |
Neuroblastoma | 2 | Neuroblastoma |
Sialidosis | 2 | Sialidosis |
Polyposis | 2 | Polyposis |
Basal_ganglia_disease | 2 | Basal_ganglia_disease |
Blue-cone_monochromacy | 2 | Blue-cone_monochromacy |
Glycogenosis | 2 | Glycogenosis |
Rhizomelic_chondrodysplasia_punctata | 2 | Rhizomelic_chondrodysplasia_punctata |
Leiomyomatosis | 2 | Leiomyomatosis |
Intervertebral_disc_disease | 2 | Intervertebral_disc_disease |
Alexander_disease | 2 | Alexander_disease |
Cerebral_amyloid_angiopathy | 2 | Cerebral_amyloid_angiopathy |
"Coloboma,_ocular" | 2 | "Coloboma,_ocular" |
Rickets | 2 | Rickets |
Lipoid_adrenal_hyperplasia | 2 | Lipoid_adrenal_hyperplasia |
Osteogenesis_imperfecta | 2 | Osteogenesis_imperfecta |
Malignant_hyperthermia_susceptibility | 2 | Malignant_hyperthermia_susceptibility |
Central_core_disease | 2 | Central_core_disease |
Exostoses | 2 | Exostoses |
Saethre-Chotzen_syndrome | 2 | Saethre-Chotzen_syndrome |
Medulloblastoma | 2 | Medulloblastoma |
Venous_thrombosis | 2 | Venous_thrombosis |
Marfan_syndrome | 2 | Marfan_syndrome |
Abetalipoproteinemia | 2 | Abetalipoproteinemia |
Goiter | 2 | Goiter |
Gastrointestinal_stromal_tumor | 2 | Gastrointestinal_stromal_tumor |
Cryptorchidism | 2 | Cryptorchidism |
Osteosarcoma | 2 | Osteosarcoma |
Jackson-Weiss_syndrome | 2 | Jackson-Weiss_syndrome |
Glucocorticoid_deficiency | 2 | Glucocorticoid_deficiency |
Stroke | 2 | Stroke |
Hyperekplexia | 2 | Hyperekplexia |
Longevity | 2 | Longevity |
Propionicacidemia | 2 | Propionicacidemia |
3-Methylcrotonyl-CoA_carboxylase_deficiency | 2 | 3-Methylcrotonyl-CoA_carboxylase_deficiency |
Trifunctional_protein_deficiency | 2 | Trifunctional_protein_deficiency |
Cowden_disease | 2 | Cowden_disease |
Cockayne_syndrome | 2 | Cockayne_syndrome |
Hyperlipoproteinemia | 2 | Hyperlipoproteinemia |
Becker_muscular_dystrophy | 2 | Becker_muscular_dystrophy |
Mitochondrial_DNA_depletion_syndrome | 2 | Mitochondrial_DNA_depletion_syndrome |
Split-hand/foot_malformation | 2 | Split-hand/foot_malformation |
Hyperphenylalaninemia | 2 | Hyperphenylalaninemia |
Viral_infection | 2 | Viral_infection |
Epidermodysplasia_verruciformis | 2 | Epidermodysplasia_verruciformis |
Fraser_syndrome | 2 | Fraser_syndrome |
Azoospermia | 2 | Azoospermia |
Creutzfeldt-Jakob_disease | 2 | Creutzfeldt-Jakob_disease |
Myotonic_dystrophy | 2 | Myotonic_dystrophy |
Medullary_thyroid_carcinoma | 2 | Medullary_thyroid_carcinoma |
Psoraisis | 2 | Psoraisis |
Mucoepidermoid_salivary_gland_carcinoma | 2 | Mucoepidermoid_salivary_gland_carcinoma |
von_Hippel-Lindau_syndrome | 2 | von_Hippel-Lindau_syndrome |
Heterotaxy | 2 | Heterotaxy |
Pfeiffer_syndrome | 2 | Pfeiffer_syndrome |
Loeys-Dietz_syndrome | 2 | Loeys-Dietz_syndrome |
Optic_atrophy | 2 | Optic_atrophy |
T-cell_lymphoblastic_leukemia | 2 | T-cell_lymphoblastic_leukemia |
Monilethrix | 2 | Monilethrix |
Homocystinuria | 2 | Homocystinuria |
Crouzon_syndrome | 2 | Crouzon_syndrome |
Muir-Torre_syndrome | 2 | Muir-Torre_syndrome |
Iridogoniodysgenesis | 2 | Iridogoniodysgenesis |
Dyslexia | 2 | Dyslexia |
Ciliary_dyskinesia | 2 | Ciliary_dyskinesia |
Ataxia-telangiectasia | 2 | Ataxia-telangiectasia |
"Transposition_of_great_arteries,_dextro-looped" | 2 | "Transposition_of_great_arteries,_dextro-looped" |
Bleeding_disorder | 2 | Bleeding_disorder |
Prader-Willi_syndrome | 2 | Prader-Willi_syndrome |
Metachromatic_leukodystrophy | 2 | Metachromatic_leukodystrophy |
Angioedema | 2 | Angioedema |
Oguchi_disease | 2 | Oguchi_disease |
Dent_disease | 2 | Dent_disease |
Afibrinogenemia | 2 | Afibrinogenemia |
Persistent_Mullerian_duct_syndrome | 2 | Persistent_Mullerian_duct_syndrome |
Glanzmann_thrombasthenia | 2 | Glanzmann_thrombasthenia |
Multiple_endocrine_neoplasia | 2 | Multiple_endocrine_neoplasia |
Nephropathy-hypertension | 1 | Nephropathy-hypertension |
AICA-ribosiduria_due_to_ATIC_deficiency | 1 | AICA-ribosiduria_due_to_ATIC_deficiency |
"Hypogonadism,_hypergonadotropic" | 1 | "Hypogonadism,_hypergonadotropic" |
Kininogen_deficiency | 1 | Kininogen_deficiency |
Leprechaunism | 1 | Leprechaunism |
van_Buchem_disease | 1 | van_Buchem_disease |
WAGR_syndrome | 1 | WAGR_syndrome |
Greenberg_dysplasia | 1 | Greenberg_dysplasia |
Megalencephalic_leukoencephalopathy_with_subcortical_cysts | 1 | Megalencephalic_leukoencephalopathy_with_subcortical_cysts |
Hystrix-like_ichthyosis_with_deafness | 1 | Hystrix-like_ichthyosis_with_deafness |
Aromatase_deficiency | 1 | Aromatase_deficiency |
Sialuria | 1 | Sialuria |
"Lower_motor_neuron_disease,_progressive,_without_sensory_symptoms" | 1 | "Lower_motor_neuron_disease,_progressive,_without_sensory_symptoms" |
Combined_factor_V_and_VIII_deficiency | 1 | Combined_factor_V_and_VIII_deficiency |
"Desmoid_disease,_hereditary" | 1 | "Desmoid_disease,_hereditary" |
Slow_acetylation | 1 | Slow_acetylation |
"Methionine_adenosyltransferase_deficiency,_autosomal_recessive" | 1 | "Methionine_adenosyltransferase_deficiency,_autosomal_recessive" |
Endotoxin_hyporesponsiveness | 1 | Endotoxin_hyporesponsiveness |
"Cerebellar_hypoplasia,_VLDLR-associated" | 1 | "Cerebellar_hypoplasia,_VLDLR-associated" |
Drug_addiction | 1 | Drug_addiction |
Adenosine_deaminase_deficiency | 1 | Adenosine_deaminase_deficiency |
Duane_syndrome | 1 | Duane_syndrome |
Hypoceruloplasminemia | 1 | Hypoceruloplasminemia |
Enhanced_S-cone_syndrome | 1 | Enhanced_S-cone_syndrome |
"Pigmentation_of_hair,_skin,_and_eyes,_variation_in" | 1 | "Pigmentation_of_hair,_skin,_and_eyes,_variation_in" |
Fabry_disease | 1 | Fabry_disease |
Hypohaptoglobinemia | 1 | Hypohaptoglobinemia |
Cystinosis | 1 | Cystinosis |
ARC_syndrome | 1 | ARC_syndrome |
Aldosteronism | 1 | Aldosteronism |
Hyperprothrombinemia | 1 | Hyperprothrombinemia |
Fitzgerald_factor_deficiency | 1 | Fitzgerald_factor_deficiency |
Inosine_triphosphatase_deficiency | 1 | Inosine_triphosphatase_deficiency |
Creatine_phosphokinase | 1 | Creatine_phosphokinase |
Palmoplantar_keratoderma | 1 | Palmoplantar_keratoderma |
Atrichia_with_papular_lesions | 1 | Atrichia_with_papular_lesions |
Tall_stature | 1 | Tall_stature |
Alcohol_intolerance | 1 | Alcohol_intolerance |
Hypofibrinogenemia | 1 | Hypofibrinogenemia |
Aortic_aneurysm | 1 | Aortic_aneurysm |
Lathosterolosis | 1 | Lathosterolosis |
Timothy_syndrome | 1 | Timothy_syndrome |
Partington_syndrome | 1 | Partington_syndrome |
"Blepharophimosis,_epicanthus_inversus,_and_ptosis" | 1 | "Blepharophimosis,_epicanthus_inversus,_and_ptosis" |
Glucosidase_I_deficiency | 1 | Glucosidase_I_deficiency |
Enlarged_vestibular_aqueduct | 1 | Enlarged_vestibular_aqueduct |
Popliteal_pterygium_syndrome | 1 | Popliteal_pterygium_syndrome |
3-hydroxyacyl-CoA_dehydrogenase_deficiency | 1 | 3-hydroxyacyl-CoA_dehydrogenase_deficiency |
Nijmegen_breakage_syndrome | 1 | Nijmegen_breakage_syndrome |
Mulibrey_nanism | 1 | Mulibrey_nanism |
Silver_spastic_paraplegia_syndrome | 1 | Silver_spastic_paraplegia_syndrome |
"Apparent_mineralocorticoid_excess,_hypertension_due_to" | 1 | "Apparent_mineralocorticoid_excess,_hypertension_due_to" |
Adrenomyeloneuropathy | 1 | Adrenomyeloneuropathy |
Capillary_malformations | 1 | Capillary_malformations |
CETP_deficiency | 1 | CETP_deficiency |
Pseudoxanthoma_elasticum | 1 | Pseudoxanthoma_elasticum |
Alcohol_dependence | 1 | Alcohol_dependence |
McKusick-Kaufman_syndrome | 1 | McKusick-Kaufman_syndrome |
Glucose/galactose_malabsorption | 1 | Glucose/galactose_malabsorption |
"Temperature-sensitive_apoptosis,_cellular" | 1 | "Temperature-sensitive_apoptosis,_cellular" |
"Hearing_loss,_low-frequency_sensorineural" | 1 | "Hearing_loss,_low-frequency_sensorineural" |
Adenylosuccinase_deficiency | 1 | Adenylosuccinase_deficiency |
Solitary_median_maxillary_central_incisor | 1 | Solitary_median_maxillary_central_incisor |
Transcobalamin_II_deficiency | 1 | Transcobalamin_II_deficiency |
Alpha-1-antichymotrypsin_deficiency | 1 | Alpha-1-antichymotrypsin_deficiency |
AGAT_deficiency | 1 | AGAT_deficiency |
Opremazole_poor_metabolizer | 1 | Opremazole_poor_metabolizer |
Lipoid_proteinosis | 1 | Lipoid_proteinosis |
Hypocalciuric_hypercalcemia | 1 | Hypocalciuric_hypercalcemia |
Virilization | 1 | Virilization |
Coronary_spasms | 1 | Coronary_spasms |
Orolaryngeal_cancer | 1 | Orolaryngeal_cancer |
Hypoglycemia | 1 | Hypoglycemia |
Simpson-Golabi-Behmel_syndrome | 1 | Simpson-Golabi-Behmel_syndrome |
EEC_syndrome | 1 | EEC_syndrome |
LCHAD_deficiency | 1 | LCHAD_deficiency |
Chediak-Higashi_syndrome | 1 | Chediak-Higashi_syndrome |
"Unna-Thost_disease,_nonepidermolytic" | 1 | "Unna-Thost_disease,_nonepidermolytic" |
Immunodeficiency-centromeric_instability-facial_anomalies_syndrome | 1 | Immunodeficiency-centromeric_instability-facial_anomalies_syndrome |
Ovarian_sex_cord_tumors | 1 | Ovarian_sex_cord_tumors |
Anorexia_nervosa | 1 | Anorexia_nervosa |
Hemoglobin_H_disease | 1 | Hemoglobin_H_disease |
van_der_Woude_syndrome | 1 | van_der_Woude_syndrome |
Narcolepsy | 1 | Narcolepsy |
Achondrogenesis_Ib | 1 | Achondrogenesis_Ib |
Pseudoachondroplasia | 1 | Pseudoachondroplasia |
Cyclic_ichthyosis_with_epidermolytic_hyperkeratosis | 1 | Cyclic_ichthyosis_with_epidermolytic_hyperkeratosis |
Kappa_light_chain_deficiency | 1 | Kappa_light_chain_deficiency |
Glutathione_synthetase_deficiency | 1 | Glutathione_synthetase_deficiency |
Leri-Weill_dyschondrosteosis | 1 | Leri-Weill_dyschondrosteosis |
Barth_syndrome | 1 | Barth_syndrome |
Harderoporphyrinuria | 1 | Harderoporphyrinuria |
Caffey_disease | 1 | Caffey_disease |
Hypoparathyroidism-retardation-dysmorphism_syndrome | 1 | Hypoparathyroidism-retardation-dysmorphism_syndrome |
Williams-Beuren_syndrome | 1 | Williams-Beuren_syndrome |
Bietti_crystalline_corneoretinal_dystrophy | 1 | Bietti_crystalline_corneoretinal_dystrophy |
Debrisoquine_sensitivity | 1 | Debrisoquine_sensitivity |
Hyperornithinemia-hyperammonemia-homocitrullinemia_syndrome | 1 | Hyperornithinemia-hyperammonemia-homocitrullinemia_syndrome |
Benzene_toxicity | 1 | Benzene_toxicity |
Fumarase_deficiency | 1 | Fumarase_deficiency |
Amish_infantile_epilepsy_syndrome | 1 | Amish_infantile_epilepsy_syndrome |
Polydactyly | 1 | Polydactyly |
Mitochondrial_DNA_depletion_myopathy | 1 | Mitochondrial_DNA_depletion_myopathy |
Opitz_G_syndrome | 1 | Opitz_G_syndrome |
Pituitary_anomalies_with_holoprosencephaly-like_features | 1 | Pituitary_anomalies_with_holoprosencephaly-like_features |
Histidinemia | 1 | Histidinemia |
Coumarin_resistance | 1 | Coumarin_resistance |
Beta-ureidopropionase_deficiency | 1 | Beta-ureidopropionase_deficiency |
Basal_cell_nevus_syndrome | 1 | Basal_cell_nevus_syndrome |
"Retinol_binding_protein,_deficiency_of" | 1 | "Retinol_binding_protein,_deficiency_of" |
Enchondromatosis | 1 | Enchondromatosis |
Chylomicron_retention_disease | 1 | Chylomicron_retention_disease |
Stem-cell_leukemia/lymphoma_syndrome | 1 | Stem-cell_leukemia/lymphoma_syndrome |
Scurvy | 1 | Scurvy |
Achondroplasia | 1 | Achondroplasia |
"Ezetimibe,_nonresponse_to" | 1 | "Ezetimibe,_nonresponse_to" |
Vitelliform_macular_dystrophy | 1 | Vitelliform_macular_dystrophy |
Hereditary_persistence_of_fetal_hemoglobin | 1 | Hereditary_persistence_of_fetal_hemoglobin |
Optic_nerve_hypoplasia/aplasia | 1 | Optic_nerve_hypoplasia/aplasia |
Dyserythropoietic_anemia | 1 | Dyserythropoietic_anemia |
Cavernous_malformations_of_CNS_and_retina | 1 | Cavernous_malformations_of_CNS_and_retina |
Stapes_ankylosis_syndrome_without_symphalangism | 1 | Stapes_ankylosis_syndrome_without_symphalangism |
Shwachman-Diamond_syndrome | 1 | Shwachman-Diamond_syndrome |
Laron_dwarfism | 1 | Laron_dwarfism |
Morning_glory_disc_anomaly | 1 | Morning_glory_disc_anomaly |
"Keratoderma,_palmoplantar,_with_deafness" | 1 | "Keratoderma,_palmoplantar,_with_deafness" |
Smith-Fineman-Myers_syndrome | 1 | Smith-Fineman-Myers_syndrome |
Cleidocranial_dysplasia | 1 | Cleidocranial_dysplasia |
Proud_syndrome | 1 | Proud_syndrome |
Blau_syndrome | 1 | Blau_syndrome |
"Hepatic_failure,_early_onset,_and_neurologic_disorder" | 1 | "Hepatic_failure,_early_onset,_and_neurologic_disorder" |
Troyer_syndrome | 1 | Troyer_syndrome |
Renpenning_syndrome | 1 | Renpenning_syndrome |
Steatocystoma_multiplex | 1 | Steatocystoma_multiplex |
"Myelokathexis,_isolated" | 1 | "Myelokathexis,_isolated" |
Athabaskan_brainstem_dysgenesis_syndrome | 1 | Athabaskan_brainstem_dysgenesis_syndrome |
"Focal_cortical_dysplasia,_Taylor_balloon_cell_type" | 1 | "Focal_cortical_dysplasia,_Taylor_balloon_cell_type" |
Skin_fragility-woolly_hair_syndrome | 1 | Skin_fragility-woolly_hair_syndrome |
Major_depressive_disorder | 1 | Major_depressive_disorder |
Acrocapitofemoral_dysplasia | 1 | Acrocapitofemoral_dysplasia |
Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome | 1 | Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome |
Wolfram_syndrome | 1 | Wolfram_syndrome |
"17,20-lyase_deficiency" | 1 | "17,20-lyase_deficiency" |
Facioscapulohumeral_muscular_dystrophy | 1 | Facioscapulohumeral_muscular_dystrophy |
Transaldolase_deficiency | 1 | Transaldolase_deficiency |
MHC_class_II_deficiency | 1 | MHC_class_II_deficiency |
Craniofacial-deafness-hand_syndrome | 1 | Craniofacial-deafness-hand_syndrome |
Hyperapobetalipoproteinemia | 1 | Hyperapobetalipoproteinemia |
Phosphoserine_phosphatase_deficiency | 1 | Phosphoserine_phosphatase_deficiency |
Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma | 1 | Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma |
Hyperuricemic_nephropathy | 1 | Hyperuricemic_nephropathy |
Perineal_hypospadias | 1 | Perineal_hypospadias |
"Chondrodysplasia,_Grebe_type" | 1 | "Chondrodysplasia,_Grebe_type" |
Limb-mammary_syndrome | 1 | Limb-mammary_syndrome |
Sickle_cell_anemia | 1 | Sickle_cell_anemia |
Allan-Herndon-Dudley_syndrome | 1 | Allan-Herndon-Dudley_syndrome |
Langer_mesomelic_dysplasia | 1 | Langer_mesomelic_dysplasia |
"Angiofibroma,_sporadic" | 1 | "Angiofibroma,_sporadic" |
"Lesch-Nyhan_syndrome," | 1 | "Lesch-Nyhan_syndrome," |
PCWH | 1 | PCWH |
Osteopoikilosis | 1 | Osteopoikilosis |
Apert_syndrome | 1 | Apert_syndrome |
Hyperammonemia | 1 | Hyperammonemia |
Gardner_syndrome | 1 | Gardner_syndrome |
Tietz_syndrome | 1 | Tietz_syndrome |
Sotos_syndrome | 1 | Sotos_syndrome |
"Renal_hypoplasia,_isolated" | 1 | "Renal_hypoplasia,_isolated" |
Ceroid_lipofuscinosis | 1 | Ceroid_lipofuscinosis |
Aldolase_A_deficiency | 1 | Aldolase_A_deficiency |
"Leanness,_inherited" | 1 | "Leanness,_inherited" |
Cornelia_de_Lange_syndrome | 1 | Cornelia_de_Lange_syndrome |
IgG2_deficiency | 1 | IgG2_deficiency |
Dimethylglycine_dehydrogenase_deficiency | 1 | Dimethylglycine_dehydrogenase_deficiency |
Osteoporosis-pseudoglioma_syndrome | 1 | Osteoporosis-pseudoglioma_syndrome |
"Creatine_deficiency_syndrome,_X-linked" | 1 | "Creatine_deficiency_syndrome,_X-linked" |
Ankylosing_spoldylitis | 1 | Ankylosing_spoldylitis |
Thyrotoxic_periodic_paralysis | 1 | Thyrotoxic_periodic_paralysis |
Roberts_syndrome | 1 | Roberts_syndrome |
Hypocalcemia | 1 | Hypocalcemia |
Parkes_Weber_syndrome | 1 | Parkes_Weber_syndrome |
Achalasia-addisonianism-alacrimia_syndrome | 1 | Achalasia-addisonianism-alacrimia_syndrome |
Naxos_disease | 1 | Naxos_disease |
Adrenocortical_carcinoma | 1 | Adrenocortical_carcinoma |
Camurati-Engelmann_disease | 1 | Camurati-Engelmann_disease |
Anxiety-related_personality_traits | 1 | Anxiety-related_personality_traits |
Familial_Mediterranean_fever | 1 | Familial_Mediterranean_fever |
Glomuvenous_malformations | 1 | Glomuvenous_malformations |
Mevalonicaciduria | 1 | Mevalonicaciduria |
Occipital_horn_syndrome | 1 | Occipital_horn_syndrome |
Borjeson-Forssman-Lehmann_syndrome | 1 | Borjeson-Forssman-Lehmann_syndrome |
Odontohypophosphatasia | 1 | Odontohypophosphatasia |
Dysautonomia | 1 | Dysautonomia |
Congenital_bilateral_absence_of_vas_deferens | 1 | Congenital_bilateral_absence_of_vas_deferens |
Syndactyly | 1 | Syndactyly |
"Neural_tube_defects,_maternal_risk_of" | 1 | "Neural_tube_defects,_maternal_risk_of" |
"Dental_anomalies,_isolated" | 1 | "Dental_anomalies,_isolated" |
Forebrain_defects | 1 | Forebrain_defects |
Zlotogora-Ogur_syndrome | 1 | Zlotogora-Ogur_syndrome |
"Craniofacial_anomalies,_empty_sella_turcica,_corneal_endothelial_changes,_and_abnormal_retinal_and_auditory_bipolar_cells" | 1 | "Craniofacial_anomalies,_empty_sella_turcica,_corneal_endothelial_changes,_and_abnormal_retinal_and_auditory_bipolar_cells" |
Ulnar-mammary_syndrome | 1 | Ulnar-mammary_syndrome |
Segawa_syndrome | 1 | Segawa_syndrome |
Cholelithiasis | 1 | Cholelithiasis |
Accelerated_tumor_formation | 1 | Accelerated_tumor_formation |
Phosphoglycerate_dehydrogenase_deficiency | 1 | Phosphoglycerate_dehydrogenase_deficiency |
"Dengue_fever,_protection_against" | 1 | "Dengue_fever,_protection_against" |
Supravalvar_aortic_stenosis | 1 | Supravalvar_aortic_stenosis |
Septooptic_dysplasia | 1 | Septooptic_dysplasia |
Otopalatodigital_syndrome | 1 | Otopalatodigital_syndrome |
Norrie_disease | 1 | Norrie_disease |
"Aniridia,_type_II" | 1 | "Aniridia,_type_II" |
Wilson_disease | 1 | Wilson_disease |
HELLP_syndrome | 1 | HELLP_syndrome |
Trichorhinophalangeal_syndrome | 1 | Trichorhinophalangeal_syndrome |
Myokymia_with_neonatal_epilepsy | 1 | Myokymia_with_neonatal_epilepsy |
Smith-Lemli-Opitz_syndrome | 1 | Smith-Lemli-Opitz_syndrome |
Velocardiofacial_syndrome | 1 | Velocardiofacial_syndrome |
Nasopharyngeal_carcinoma | 1 | Nasopharyngeal_carcinoma |
Mandibuloacral_dysplasia_with_type_B_lipodystrophy | 1 | Mandibuloacral_dysplasia_with_type_B_lipodystrophy |
Acatalasemia | 1 | Acatalasemia |
Exertional_myoglobinuria_due_to_deficiency_of_LDH-A | 1 | Exertional_myoglobinuria_due_to_deficiency_of_LDH-A |
"Myelomonocytic_leukemia,_chronic" | 1 | "Myelomonocytic_leukemia,_chronic" |
CD59_deficiency | 1 | CD59_deficiency |
Rothmund-Thomson_syndrome | 1 | Rothmund-Thomson_syndrome |
Chitotriosidase_deficiency | 1 | Chitotriosidase_deficiency |
Hyperkalemic_periodic_paralysis | 1 | Hyperkalemic_periodic_paralysis |
Hydrocephalus | 1 | Hydrocephalus |
Estrogen_resistance | 1 | Estrogen_resistance |
Wiskott-Aldrich_syndrome | 1 | Wiskott-Aldrich_syndrome |
Duchenne_muscular_dystrophy | 1 | Duchenne_muscular_dystrophy |
Placental_steroid_sulfatase_deficiency | 1 | Placental_steroid_sulfatase_deficiency |
Sick_sinus_syndrome | 1 | Sick_sinus_syndrome |
Keratitis-ichthyosis-deafness_syndrome | 1 | Keratitis-ichthyosis-deafness_syndrome |
"Cylindromatosis,_familial" | 1 | "Cylindromatosis,_familial" |
GABA-transaminase_deficiency | 1 | GABA-transaminase_deficiency |
Hypochromic_microcytic_anemia | 1 | Hypochromic_microcytic_anemia |
Choreoacanthocytosis | 1 | Choreoacanthocytosis |
Favism | 1 | Favism |
Sertoli-cell-only_syndrome | 1 | Sertoli-cell-only_syndrome |
Delayed_sleep_phase_syndrome | 1 | Delayed_sleep_phase_syndrome |
Kindler_syndrome | 1 | Kindler_syndrome |
ABCD_syndrome | 1 | ABCD_syndrome |
Low_renin_hypertension | 1 | Low_renin_hypertension |
Giant_cell_hepatitis | 1 | Giant_cell_hepatitis |
Machado-Joseph_disease | 1 | Machado-Joseph_disease |
Meleda_disease | 1 | Meleda_disease |
Tolbutamide_poor_metabolizer | 1 | Tolbutamide_poor_metabolizer |
"Interleukin-2_receptor,_alpha_chain,_deficiency_of" | 1 | "Interleukin-2_receptor,_alpha_chain,_deficiency_of" |
Alkaptonuria | 1 | Alkaptonuria |
Attention-deficit_hyperactivity_disorder | 1 | Attention-deficit_hyperactivity_disorder |
Periventricular_heterotopia_with_microcephaly | 1 | Periventricular_heterotopia_with_microcephaly |
Mephenytoin_poor_metabolizer | 1 | Mephenytoin_poor_metabolizer |
Macrothrombocytopenia | 1 | Macrothrombocytopenia |
Noncompaction_of_left_ventricular_myocardium | 1 | Noncompaction_of_left_ventricular_myocardium |
"Slowed_nerve_conduction_velocity,_AD" | 1 | "Slowed_nerve_conduction_velocity,_AD" |
"Pigmented_adrenocortical_disease,_primary_isolated" | 1 | "Pigmented_adrenocortical_disease,_primary_isolated" |
Enolase_deficiency | 1 | Enolase_deficiency |
Hand-foot-uterus_syndrome | 1 | Hand-foot-uterus_syndrome |
Spondylometaphyseal_dysplasia | 1 | Spondylometaphyseal_dysplasia |
Unipolar_depression | 1 | Unipolar_depression |
Cohen_syndrome | 1 | Cohen_syndrome |
Alpha-methylacetoacetic_aciduria | 1 | Alpha-methylacetoacetic_aciduria |
Dentatorubro-pallidoluysian_atrophy | 1 | Dentatorubro-pallidoluysian_atrophy |
Brody_myopathy | 1 | Brody_myopathy |
Alpha-thalassemia/mental_retardation_syndrome | 1 | Alpha-thalassemia/mental_retardation_syndrome |
Multiple_cutaneous_and_uterine_leiomyomata | 1 | Multiple_cutaneous_and_uterine_leiomyomata |
Wernicke-Korsakoff_syndrome | 1 | Wernicke-Korsakoff_syndrome |
Analbuminemia | 1 | Analbuminemia |
Proguanil_poor_metabolizer | 1 | Proguanil_poor_metabolizer |
Pseudovitamin_D_deficiency_rickets_1 | 1 | Pseudovitamin_D_deficiency_rickets_1 |
"X-inactivation,_familial_skewed" | 1 | "X-inactivation,_familial_skewed" |
Dystransthyretinemic_hyperthyroxinemia | 1 | Dystransthyretinemic_hyperthyroxinemia |
"Apnea,_postanesthetic" | 1 | "Apnea,_postanesthetic" |
Fructose_intolerance | 1 | Fructose_intolerance |
Uterine_leiomyoma | 1 | Uterine_leiomyoma |
Aarskog-Scott_syndrome | 1 | Aarskog-Scott_syndrome |
Hoyeraal-Hreidarsson_syndrome | 1 | Hoyeraal-Hreidarsson_syndrome |
Lynch_cancer_family_syndrome_II | 1 | Lynch_cancer_family_syndrome_II |
LIG4_syndrome | 1 | LIG4_syndrome |
D-2-hydroxyglutaric_aciduria | 1 | D-2-hydroxyglutaric_aciduria |
VLCAD_deficiency | 1 | VLCAD_deficiency |
Synostoses_syndrome | 1 | Synostoses_syndrome |
Sulfite_oxidase_deficiency | 1 | Sulfite_oxidase_deficiency |
Camptodactyly-arthropathy-coxa_varapericarditis_syndrome | 1 | Camptodactyly-arthropathy-coxa_varapericarditis_syndrome |
Sea-blue_histiocyte_disease | 1 | Sea-blue_histiocyte_disease |
Alcoholism | 1 | Alcoholism |
"Hemiplegic_migraine,_familial" | 1 | "Hemiplegic_migraine,_familial" |
Laryngoonychocutaneous_syndrome | 1 | Laryngoonychocutaneous_syndrome |
Fibrocalculous_pancreatic_diabetes | 1 | Fibrocalculous_pancreatic_diabetes |
Renal_glucosuria | 1 | Renal_glucosuria |
"Restrictive_dermopathy,_lethal" | 1 | "Restrictive_dermopathy,_lethal" |
Statins | 1 | Statins |
"Pituitary_tumor,_invasive" | 1 | "Pituitary_tumor,_invasive" |
Proteinuria | 1 | Proteinuria |
Frasier_syndrome | 1 | Frasier_syndrome |
Paramyotonia_congenita | 1 | Paramyotonia_congenita |
Fanconi-Bickel_syndrome | 1 | Fanconi-Bickel_syndrome |
Prekallikrein_deficiency | 1 | Prekallikrein_deficiency |
Plasminogen_deficiency | 1 | Plasminogen_deficiency |
"Gyrate_atrophy_of_choroid_and_retina_with_ornithinemia,_B6_responsive_or_unresponsive" | 1 | "Gyrate_atrophy_of_choroid_and_retina_with_ornithinemia,_B6_responsive_or_unresponsive" |
Brugada_syndrome | 1 | Brugada_syndrome |
Rapid_progression_to_AIDS_from_HIV1_infection | 1 | Rapid_progression_to_AIDS_from_HIV1_infection |
Myoadenylate_deaminase_deficiency | 1 | Myoadenylate_deaminase_deficiency |
Hyperproreninemia | 1 | Hyperproreninemia |
Lumbar_disc_disease | 1 | Lumbar_disc_disease |
CRASH_syndrome | 1 | CRASH_syndrome |
Ovarian_hyperstimulation_syndrome | 1 | Ovarian_hyperstimulation_syndrome |
Oligodontia | 1 | Oligodontia |
Haim-Munk_syndrome | 1 | Haim-Munk_syndrome |
"Tetra-amelia,_autosomal_recessive" | 1 | "Tetra-amelia,_autosomal_recessive" |
"Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency" | 1 | "Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency" |
Newfoundland_rod-cone_dystrophy | 1 | Newfoundland_rod-cone_dystrophy |
Listeria_monocytogenes | 1 | Listeria_monocytogenes |
Cold-induced_sweating_syndrome | 1 | Cold-induced_sweating_syndrome |
Jensen_syndrome | 1 | Jensen_syndrome |
Ring_dermoid_of_cornea | 1 | Ring_dermoid_of_cornea |
Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia | 1 | Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia |
Plasmin_inhibitor_deficiency | 1 | Plasmin_inhibitor_deficiency |
"Dentin_dysplasia,_type_II" | 1 | "Dentin_dysplasia,_type_II" |
Dihydropyrimidinuria | 1 | Dihydropyrimidinuria |
Stomach_cancer | 1 | Stomach_cancer |
Incontinentia_pigmenti | 1 | Incontinentia_pigmenti |
Trichodontoosseous_syndrome | 1 | Trichodontoosseous_syndrome |
"Tremor,_familial_essential" | 1 | "Tremor,_familial_essential" |
Dyschromatosis | 1 | Dyschromatosis |
"Superoxide_dismutase,_elevated_extracellular" | 1 | "Superoxide_dismutase,_elevated_extracellular" |
Hyperbilirubinemia | 1 | Hyperbilirubinemia |
Pelizaeus-Merzbacher_disease | 1 | Pelizaeus-Merzbacher_disease |
DiGeorge_syndrome | 1 | DiGeorge_syndrome |
Adrenocorticotropic_hormone_deficiency | 1 | Adrenocorticotropic_hormone_deficiency |
Hypophosphatasia | 1 | Hypophosphatasia |
Kniest_dysplasia | 1 | Kniest_dysplasia |
Chanarin-Dorfman_syndrome | 1 | Chanarin-Dorfman_syndrome |
Oral-facial-digital_syndrome | 1 | Oral-facial-digital_syndrome |
Red_hair/fair_skin | 1 | Red_hair/fair_skin |
"Follicle-stimulating_hormone_deficiency,_isolated" | 1 | "Follicle-stimulating_hormone_deficiency,_isolated" |
"Foveomacular_dystrophy,_adult-onset,_with_choroidal_neovascularization" | 1 | "Foveomacular_dystrophy,_adult-onset,_with_choroidal_neovascularization" |
Blepharospasm | 1 | Blepharospasm |
Dosage-sensitive_sex_reversal | 1 | Dosage-sensitive_sex_reversal |
Eye_anomalies | 1 | Eye_anomalies |
Weaver_syndrome | 1 | Weaver_syndrome |
Primary_lateral_sclerosis | 1 | Primary_lateral_sclerosis |
Paroxysmal_kinesigenic_choreoathetosis | 1 | Paroxysmal_kinesigenic_choreoathetosis |
EBD | 1 | EBD |
Myotubular_myopathy | 1 | Myotubular_myopathy |
Hypereosinophilic_syndrome | 1 | Hypereosinophilic_syndrome |
Elite_sprint_athletic_performance | 1 | Elite_sprint_athletic_performance |
Miller-Dieker_lissencephaly | 1 | Miller-Dieker_lissencephaly |
Seasonal_affective_disorder | 1 | Seasonal_affective_disorder |
STAT1_deficiency | 1 | STAT1_deficiency |
Alopecia_universalis | 1 | Alopecia_universalis |
Salivary_adenoma | 1 | Salivary_adenoma |
Carbamoylphosphate_synthetase_I_deficiency | 1 | Carbamoylphosphate_synthetase_I_deficiency |
Holt-Oram_syndrome | 1 | Holt-Oram_syndrome |
Galactosemia | 1 | Galactosemia |
Ornithine_transcarbamylase_deficiency | 1 | Ornithine_transcarbamylase_deficiency |
May-Hegglin_anomaly | 1 | May-Hegglin_anomaly |
Stuve-Wiedemann_syndrome/Schwartz-Jampel_type_2_syndrome | 1 | Stuve-Wiedemann_syndrome/Schwartz-Jampel_type_2_syndrome |
McLeod_syndrome | 1 | McLeod_syndrome |
Fish-eye_disease | 1 | Fish-eye_disease |
Galactose_epimerase_deficiency | 1 | Galactose_epimerase_deficiency |
OSMED_syndrome | 1 | OSMED_syndrome |
"Hyalinosis,_infantile_systemic" | 1 | "Hyalinosis,_infantile_systemic" |
Pigmented_paravenous_chorioretinal_atrophy | 1 | Pigmented_paravenous_chorioretinal_atrophy |
"Giant_platelet_disorder,_isolated" | 1 | "Giant_platelet_disorder,_isolated" |
Aromatic_L-amino_acid_decarboxylase_deficiency | 1 | Aromatic_L-amino_acid_decarboxylase_deficiency |
"Corpus_callosum,_agenesis_of,_with_mental_retardation,_ocular_coloboma_and_micrognathia" | 1 | "Corpus_callosum,_agenesis_of,_with_mental_retardation,_ocular_coloboma_and_micrognathia" |
Mitochondrial_myopathy_and_sideroblastic_anemia | 1 | Mitochondrial_myopathy_and_sideroblastic_anemia |
Arthropathy | 1 | Arthropathy |
Schwannomatosis | 1 | Schwannomatosis |
Chondrocalcinosis | 1 | Chondrocalcinosis |
"Chronic_infections,_due_to_opsonin_defect" | 1 | "Chronic_infections,_due_to_opsonin_defect" |
Hypoalphalipoproteinemia | 1 | Hypoalphalipoproteinemia |
Codeine_sensitivity | 1 | Codeine_sensitivity |
Lipoprotein_lipase_deficiency | 1 | Lipoprotein_lipase_deficiency |
Cystathioninuria | 1 | Cystathioninuria |
"Colonic_aganglionosis,_total,_with_small_bowel_involvement" | 1 | "Colonic_aganglionosis,_total,_with_small_bowel_involvement" |
RAPADILINO_syndrome | 1 | RAPADILINO_syndrome |
Hepatic_lipase_deficiency | 1 | Hepatic_lipase_deficiency |
Sezary_syndrome | 1 | Sezary_syndrome |
"Disordered_steroidogenesis,_isolated" | 1 | "Disordered_steroidogenesis,_isolated" |
Hex_A_pseudodeficiency | 1 | Hex_A_pseudodeficiency |
Sjogren-Larsson_syndrome | 1 | Sjogren-Larsson_syndrome |
Mowat-Wilson_syndrome | 1 | Mowat-Wilson_syndrome |
Krabbe_disease | 1 | Krabbe_disease |
Myotilinopathy | 1 | Myotilinopathy |
Dyggve-Melchior-Clausen_disease | 1 | Dyggve-Melchior-Clausen_disease |
Townes-Brocks_syndrome | 1 | Townes-Brocks_syndrome |
MASA_syndrome | 1 | MASA_syndrome |
Smith-Magenis_syndrome | 1 | Smith-Magenis_syndrome |
Allergic_rhinitis | 1 | Allergic_rhinitis |
Glutamate_formiminotransferase_deficiency | 1 | Glutamate_formiminotransferase_deficiency |
Larson_syndrome | 1 | Larson_syndrome |
Kanzaki_disease | 1 | Kanzaki_disease |
Klippel-Trenaunay_syndrome | 1 | Klippel-Trenaunay_syndrome |
Galactosialidosis | 1 | Galactosialidosis |
"Twinning,_dizygotic" | 1 | "Twinning,_dizygotic" |
Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy | 1 | Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy |
von_Willebrand_disease | 1 | von_Willebrand_disease |
Lead_poisoning | 1 | Lead_poisoning |
Spondylocarpotarsal_synostosis_syndrome | 1 | Spondylocarpotarsal_synostosis_syndrome |
Acrokeratosis_verruciformis | 1 | Acrokeratosis_verruciformis |
Startle_disease | 1 | Startle_disease |
"Chloride_diarrhea,_congenital,_Finnish_type" | 1 | "Chloride_diarrhea,_congenital,_Finnish_type" |
Watson_syndrome | 1 | Watson_syndrome |
Hypochondroplasia | 1 | Hypochondroplasia |
"Megakaryoblastic_leukemia,_acute" | 1 | "Megakaryoblastic_leukemia,_acute" |
Hypercalciuria | 1 | Hypercalciuria |
Myasthenia | 1 | Myasthenia |
CHARGE_syndrome | 1 | CHARGE_syndrome |
"Fatty_liver,_acute,_of_pregnancy" | 1 | "Fatty_liver,_acute,_of_pregnancy" |
Combined_oxidative_phosphorylation_deficiency | 1 | Combined_oxidative_phosphorylation_deficiency |
Anderson_disease | 1 | Anderson_disease |
Muenke_syndrome | 1 | Muenke_syndrome |
Melnick-Needles_syndrome | 1 | Melnick-Needles_syndrome |
Sucrose_intolerance | 1 | Sucrose_intolerance |
Bothnia_retinal_dystrophy | 1 | Bothnia_retinal_dystrophy |
Microcoria-congenital_nephrosis_syndrome | 1 | Microcoria-congenital_nephrosis_syndrome |
Protein_S_deficiency | 1 | Protein_S_deficiency |
Spermatogenic_failure | 1 | Spermatogenic_failure |
Sweat_chloride_elevation_without_CF | 1 | Sweat_chloride_elevation_without_CF |
Cervical_carcinoma | 1 | Cervical_carcinoma |
Smith-McCort_dysplasia | 1 | Smith-McCort_dysplasia |
Gerstmann-Straussler_disease | 1 | Gerstmann-Straussler_disease |
Melorheostosis_with_osteopoikilosis | 1 | Melorheostosis_with_osteopoikilosis |
Pycnodysostosis | 1 | Pycnodysostosis |
"Adenoma,_periampullary" | 1 | "Adenoma,_periampullary" |
Aplasia_of_lacrimal_and_salivary_glands | 1 | Aplasia_of_lacrimal_and_salivary_glands |
Hyper-IgD_syndrome | 1 | Hyper-IgD_syndrome |
"Analgesia_from_kappa-opioid_receptor_agonist,_female-specific" | 1 | "Analgesia_from_kappa-opioid_receptor_agonist,_female-specific" |
Transient_bullous_of_the_newborn | 1 | Transient_bullous_of_the_newborn |
Myeloproliferative_disorder | 1 | Myeloproliferative_disorder |
Alveolar_soft-part_sarcoma | 1 | Alveolar_soft-part_sarcoma |
Char_syndrome | 1 | Char_syndrome |
Hypophosphatemic_rickets | 1 | Hypophosphatemic_rickets |
"3-beta-hydroxysteroid_dehydrogenase,_type_II,_deficiency" | 1 | "3-beta-hydroxysteroid_dehydrogenase,_type_II,_deficiency" |
Schimke_immunoosseous_dysplasia | 1 | Schimke_immunoosseous_dysplasia |
"Hyperostosis,_endosteal" | 1 | "Hyperostosis,_endosteal" |
Persistent_hyperinsulinemic_hypoglycemia_of_infancy | 1 | Persistent_hyperinsulinemic_hypoglycemia_of_infancy |
Rippling_muscle_disease | 1 | Rippling_muscle_disease |
Chromosome_22q13.3_deletion_syndrome | 1 | Chromosome_22q13.3_deletion_syndrome |
Tangier_disease | 1 | Tangier_disease |
Cholesteryl_ester_storage_disease | 1 | Cholesteryl_ester_storage_disease |
Thymine-uraciluria | 1 | Thymine-uraciluria |
Dopamine_beta-hydroxylase_deficiency | 1 | Dopamine_beta-hydroxylase_deficiency |
Carnitine_deficiency | 1 | Carnitine_deficiency |
ICOS_deficiency | 1 | ICOS_deficiency |
Neurofibromatosis-Noonan_syndrome | 1 | Neurofibromatosis-Noonan_syndrome |
Pseudohypoparathyroidism | 1 | Pseudohypoparathyroidism |
Currarino_syndrome | 1 | Currarino_syndrome |
"Choreoathetosis,_hypothyroidism,_and_respiratory_distress" | 1 | "Choreoathetosis,_hypothyroidism,_and_respiratory_distress" |
D-bifunctional_protein_deficiency | 1 | D-bifunctional_protein_deficiency |
Alpers_syndrome | 1 | Alpers_syndrome |
MALT_lymphoma | 1 | MALT_lymphoma |
Oligodendroglioma | 1 | Oligodendroglioma |
Iris_hypoplasia_and_glaucoma | 1 | Iris_hypoplasia_and_glaucoma |
Dysalbuminemic_hyperthyroxinemia | 1 | Dysalbuminemic_hyperthyroxinemia |
Supranuclear_palsy | 1 | Supranuclear_palsy |
Oroticaciduria | 1 | Oroticaciduria |
Mohr-Tranebjaerg_syndrome | 1 | Mohr-Tranebjaerg_syndrome |
Mesothelioma | 1 | Mesothelioma |
Neurodegeneration | 1 | Neurodegeneration |
Hypouricemia | 1 | Hypouricemia |
Farber_lipogranulomatosis | 1 | Farber_lipogranulomatosis |
Retinoschisis | 1 | Retinoschisis |
Pick_disease | 1 | Pick_disease |
Greig_cephalopolysyndactyly_syndrome | 1 | Greig_cephalopolysyndactyly_syndrome |
De_Sanctis-Cacchione_syndrome | 1 | De_Sanctis-Cacchione_syndrome |
Histiocytoma | 1 | Histiocytoma |
Homozygous_2p16_deletion_syndrome | 1 | Homozygous_2p16_deletion_syndrome |
Sclerosteosis | 1 | Sclerosteosis |
Pyropoikilocytosis | 1 | Pyropoikilocytosis |
Adrenal_cortical_carcinoma | 1 | Adrenal_cortical_carcinoma |
Convulsions | 1 | Convulsions |
Oculodentodigital_dysplasia | 1 | Oculodentodigital_dysplasia |
Aspartylglucosaminuria | 1 | Aspartylglucosaminuria |
Nevo_syndrome | 1 | Nevo_syndrome |
Phosphoribosyl_pyrophosphate_synthetase-related_gout | 1 | Phosphoribosyl_pyrophosphate_synthetase-related_gout |
"Immunodysregulation,_polyendocrinopathy,_and_enteropathy,_X-linked" | 1 | "Immunodysregulation,_polyendocrinopathy,_and_enteropathy,_X-linked" |
Giant-cell_fibroblastoma | 1 | Giant-cell_fibroblastoma |
Feingold_syndrome | 1 | Feingold_syndrome |
Keratitis | 1 | Keratitis |
"Dentinogenesis_imperfecta,_Shields_type" | 1 | "Dentinogenesis_imperfecta,_Shields_type" |
Meniere_disease | 1 | Meniere_disease |
Eosinophil_peroxidase_deficiency | 1 | Eosinophil_peroxidase_deficiency |
Bipolar_disorder | 1 | Bipolar_disorder |
"COPD,_rate_of_decline_of_lung_function_in" | 1 | "COPD,_rate_of_decline_of_lung_function_in" |
Prolidase_deficiency | 1 | Prolidase_deficiency |
Aldosterone_to_renin_ratio_raised | 1 | Aldosterone_to_renin_ratio_raised |
Legionaire_disease | 1 | Legionaire_disease |
Pilomatricoma | 1 | Pilomatricoma |
Kenny-Caffey_syndrome-1 | 1 | Kenny-Caffey_syndrome-1 |
McArdle_disease | 1 | McArdle_disease |
Cartilage-hair_hypoplasia | 1 | Cartilage-hair_hypoplasia |
"Pneumonitis,_desquamative_interstitial" | 1 | "Pneumonitis,_desquamative_interstitial" |
Canavan_disease | 1 | Canavan_disease |
Seckel_syndrome | 1 | Seckel_syndrome |
"Periodic_fever,_familial" | 1 | "Periodic_fever,_familial" |
Choroidal_dystrophy | 1 | Choroidal_dystrophy |
H._pylori_infection | 1 | H._pylori_infection |
XLA_and_isolated_growth_hormone_deficiency | 1 | XLA_and_isolated_growth_hormone_deficiency |
Hyperalphalipoproteinemia | 1 | Hyperalphalipoproteinemia |
Periodontitis | 1 | Periodontitis |
Carboxypeptidase_N_deficiency | 1 | Carboxypeptidase_N_deficiency |
Optic_nerve_coloboma_with_renal_disease | 1 | Optic_nerve_coloboma_with_renal_disease |
Medullary_cystic_kidney_disease | 1 | Medullary_cystic_kidney_disease |
Hyperinsulinism-hyperammonemia_syndrome | 1 | Hyperinsulinism-hyperammonemia_syndrome |
"Stevens-Johnson_syndrome,_carbamazepine-induced" | 1 | "Stevens-Johnson_syndrome,_carbamazepine-induced" |
Papillon-Lefevre_syndrome | 1 | Papillon-Lefevre_syndrome |
Retinoblastoma | 1 | Retinoblastoma |
VATER_association_with_hydrocephalus | 1 | VATER_association_with_hydrocephalus |
Galactokinase_deficiency | 1 | Galactokinase_deficiency |
Menkes_disease | 1 | Menkes_disease |
PPM-X_syndrome | 1 | PPM-X_syndrome |
Cherubism | 1 | Cherubism |
Doyne_honeycomb_degeneration_of_retina | 1 | Doyne_honeycomb_degeneration_of_retina |
Nance-Horan_syndrome | 1 | Nance-Horan_syndrome |
Oculopharyngeal_muscular_dystorphy | 1 | Oculopharyngeal_muscular_dystorphy |
Muckle-Wells_syndrome | 1 | Muckle-Wells_syndrome |
Hay-Wells_syndrome | 1 | Hay-Wells_syndrome |
"Thanatophoric_dysplasia,_types_I_and_II" | 1 | "Thanatophoric_dysplasia,_types_I_and_II" |
Nephropathy | 1 | Nephropathy |
Rhabdoid_tumors | 1 | Rhabdoid_tumors |
Heart_block | 1 | Heart_block |
Biotinidase_deficiency | 1 | Biotinidase_deficiency |
Denys-Drash_syndrome | 1 | Denys-Drash_syndrome |
Hemolytic-uremic_syndrome | 1 | Hemolytic-uremic_syndrome |
Costello_syndrome | 1 | Costello_syndrome |
Birt-Hogg-Dube_syndrome | 1 | Birt-Hogg-Dube_syndrome |
Methylmalonate_semialdehyde_dehydrogenase_deficiency | 1 | Methylmalonate_semialdehyde_dehydrogenase_deficiency |
Fragile_X_syndrome | 1 | Fragile_X_syndrome |
G6PD_deficiency | 1 | G6PD_deficiency |
Neonatal_ichthyosis-sclerosing_cholangitis_syndrome | 1 | Neonatal_ichthyosis-sclerosing_cholangitis_syndrome |
Acheiropody | 1 | Acheiropody |
Coats_disease | 1 | Coats_disease |
"Fluorouracil_toxicity,_sensitivity_to" | 1 | "Fluorouracil_toxicity,_sensitivity_to" |
Hyperkeratotic_cutaneous_capillary-venous_malformations_associated_with_cerebral_capillary_malformations | 1 | Hyperkeratotic_cutaneous_capillary-venous_malformations_associated_with_cerebral_capillary_malformations |
Non-Hodgkin_lymphoma | 1 | Non-Hodgkin_lymphoma |
Diastrophic_dysplasia | 1 | Diastrophic_dysplasia |
"Methylcobalamin_deficiency,_cblG_type" | 1 | "Methylcobalamin_deficiency,_cblG_type" |
Sex_reversal | 1 | Sex_reversal |
Coproporphyria | 1 | Coproporphyria |
Burkitt_lymphoma | 1 | Burkitt_lymphoma |
Specific_granule_deficiency | 1 | Specific_granule_deficiency |
"Achondrogenesis-hypochondrogenesis,_type_II" | 1 | "Achondrogenesis-hypochondrogenesis,_type_II" |
Alpha-actinin-3_deficiency | 1 | Alpha-actinin-3_deficiency |
"Glomerulocystic_kidney_disease,_hypoplastic" | 1 | "Glomerulocystic_kidney_disease,_hypoplastic" |
Lactate_dehydrogenase-B_deficiency | 1 | Lactate_dehydrogenase-B_deficiency |
Yemenite_deaf-blind_hypopigmentation_syndrome | 1 | Yemenite_deaf-blind_hypopigmentation_syndrome |
Ethylmalonic_encephalopathy | 1 | Ethylmalonic_encephalopathy |
"Myelofibrosis,_idiopathic" | 1 | "Myelofibrosis,_idiopathic" |
MASS_syndrome | 1 | MASS_syndrome |
Ossification_of_the_posterior_longitudinal_spinal_ligaments | 1 | Ossification_of_the_posterior_longitudinal_spinal_ligaments |
Buschke-Ollendorff_syndrome | 1 | Buschke-Ollendorff_syndrome |
Shah-Waardenburg_syndrome | 1 | Shah-Waardenburg_syndrome |
Oculofaciocardiodental_syndrome | 1 | Oculofaciocardiodental_syndrome |
3-methylglutaconicaciduria | 1 | 3-methylglutaconicaciduria |
Oligodontia-colorectal_cancer_syndrome | 1 | Oligodontia-colorectal_cancer_syndrome |
Neurofibrosarcoma | 1 | Neurofibrosarcoma |
Bannayan-Riley-Ruvalcaba_syndrome | 1 | Bannayan-Riley-Ruvalcaba_syndrome |
Wagner_syndrome | 1 | Wagner_syndrome |
Peutz-Jeghers_syndrome | 1 | Peutz-Jeghers_syndrome |
CHILD_syndrome | 1 | CHILD_syndrome |
Weissenbacher-Zweymuller_syndrome | 1 | Weissenbacher-Zweymuller_syndrome |
Autonomic_nervous_system_dysfunction | 1 | Autonomic_nervous_system_dysfunction |
Bloom_syndrome | 1 | Bloom_syndrome |
Nonaka_myopathy | 1 | Nonaka_myopathy |
Prion_disease_with_protracted_course | 1 | Prion_disease_with_protracted_course |
Lysinuric_protein_intolerance | 1 | Lysinuric_protein_intolerance |
3-M_syndrome | 1 | 3-M_syndrome |
Maroteaux-Lamy_syndrome | 1 | Maroteaux-Lamy_syndrome |
Mastocytosis_with_associated_hematologic_disorder | 1 | Mastocytosis_with_associated_hematologic_disorder |
Hyperlipidemia | 1 | Hyperlipidemia |
Left_ventricular_noncompaction | 1 | Left_ventricular_noncompaction |
Infantile_spasm_syndrome | 1 | Infantile_spasm_syndrome |
Orthostatic_intolerance | 1 | Orthostatic_intolerance |
"Cramps,_potassium-aggravated" | 1 | "Cramps,_potassium-aggravated" |
Memory_impairment | 1 | Memory_impairment |
Gaze_palsy | 1 | Gaze_palsy |
Leydig_cell_adenoma | 1 | Leydig_cell_adenoma |
Tay-Sachs_disease | 1 | Tay-Sachs_disease |
Dissection_of_cervical_arteries | 1 | Dissection_of_cervical_arteries |
Paroxysmal_nocturnal_hemoglobinuria | 1 | Paroxysmal_nocturnal_hemoglobinuria |
Androgen_insensitivity | 1 | Androgen_insensitivity |
Netherton_syndrome | 1 | Netherton_syndrome |
Antley-Bixler_syndrome | 1 | Antley-Bixler_syndrome |
Li_Fraumeni_syndrome | 1 | Li_Fraumeni_syndrome |
Schizencephaly | 1 | Schizencephaly |
Chudley-Lowry_syndrome | 1 | Chudley-Lowry_syndrome |
Endplate_acetylcholinesterase_deficiency | 1 | Endplate_acetylcholinesterase_deficiency |
Placental_abruption | 1 | Placental_abruption |
"Precocious_puberty,_male" | 1 | "Precocious_puberty,_male" |
Rabson-Mendenhall_syndrome | 1 | Rabson-Mendenhall_syndrome |
Fechtner_syndrome | 1 | Fechtner_syndrome |
Gilbert_syndrome | 1 | Gilbert_syndrome |
Isolated_growth_hormone_deficiency | 1 | Isolated_growth_hormone_deficiency |
Miyoshi_myopathy | 1 | Miyoshi_myopathy |
Keutel_syndrome | 1 | Keutel_syndrome |
CINCA_syndrome | 1 | CINCA_syndrome |
Aquaporin-1_deficiency | 1 | Aquaporin-1_deficiency |
Yellow_nail_syndrome | 1 | Yellow_nail_syndrome |
Muscle-eye-brain_disease | 1 | Muscle-eye-brain_disease |
Lhermitte-Duclos_syndrome | 1 | Lhermitte-Duclos_syndrome |
Hypoglobulinemia_and_absent_B_cells | 1 | Hypoglobulinemia_and_absent_B_cells |
Foveal_hypoplasia | 1 | Foveal_hypoplasia |
Noonan_syndrome | 1 | Noonan_syndrome |
Dermatofibrosarcoma_protuberans | 1 | Dermatofibrosarcoma_protuberans |
Adult_i_phenotype | 1 | Adult_i_phenotype |
"Phosphorylase_kinase_deficiency_of_liver_and_muscle,_autosomal_recessive" | 1 | "Phosphorylase_kinase_deficiency_of_liver_and_muscle,_autosomal_recessive" |
Wolcott-Rallison_syndrome | 1 | Wolcott-Rallison_syndrome |
"Ventricular_fibrillation,_idiopathic" | 1 | "Ventricular_fibrillation,_idiopathic" |
Acrocallosal_syndrome | 1 | Acrocallosal_syndrome |
"Schwartz-Jampel_syndrome,_type_1" | 1 | "Schwartz-Jampel_syndrome,_type_1" |
Seizures | 1 | Seizures |
Hyperinsulinism | 1 | Hyperinsulinism |
Craniofacial-skeletal-dermatologic_dysplasia | 1 | Craniofacial-skeletal-dermatologic_dysplasia |
Hailey-Hailey_disease | 1 | Hailey-Hailey_disease |
Fish-odor_syndrome | 1 | Fish-odor_syndrome |
Specific_language_impairment_QTL | 1 | Specific_language_impairment_QTL |
Hypertrypsinemia | 1 | Hypertrypsinemia |
Moyamoya_disease | 1 | Moyamoya_disease |
Acrodermatitis_enteropathica | 1 | Acrodermatitis_enteropathica |
Mast_syndrome | 1 | Mast_syndrome |
Micropenis | 1 | Micropenis |
Combined_SAP_deficiency | 1 | Combined_SAP_deficiency |
Sepiapterin_reductase_deficiency | 1 | Sepiapterin_reductase_deficiency |
Hypobetalipoproteinemia | 1 | Hypobetalipoproteinemia |
Alternating_hemiplegia_of_childhood | 1 | Alternating_hemiplegia_of_childhood |
Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome | 1 | Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome |
Pancreatic_agenesis | 1 | Pancreatic_agenesis |
"Contractural_arachnodactyly,_congenital" | 1 | "Contractural_arachnodactyly,_congenital" |
Wolman_disease | 1 | Wolman_disease |
Graft-versus-host_disease | 1 | Graft-versus-host_disease |
Tarsal-carpal_coalition_syndrome | 1 | Tarsal-carpal_coalition_syndrome |
Protoporphyria | 1 | Protoporphyria |
Myxoid_liposarcoma | 1 | Myxoid_liposarcoma |
Treacher_Collins_mandibulofacial_dysostosis | 1 | Treacher_Collins_mandibulofacial_dysostosis |
"Toenail_dystrophy,_isolated" | 1 | "Toenail_dystrophy,_isolated" |
"Norwalk_virus_infection,_resistance_to" | 1 | "Norwalk_virus_infection,_resistance_to" |
Hyperandrogenism | 1 | Hyperandrogenism |
Friedreich_ataxia | 1 | Friedreich_ataxia |
Lacticacidemia_due_to_PDX1_deficiency | 1 | Lacticacidemia_due_to_PDX1_deficiency |
Neutrophil_immunodeficiency_syndrome | 1 | Neutrophil_immunodeficiency_syndrome |
Sorsby_fundus_dystrophy | 1 | Sorsby_fundus_dystrophy |
"T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy" | 1 | "T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy" |
Hyperferritinemia-cataract_syndrome | 1 | Hyperferritinemia-cataract_syndrome |
Colchicine_resistance | 1 | Colchicine_resistance |
Conotruncal_anomaly_face_syndrome | 1 | Conotruncal_anomaly_face_syndrome |
Macrocytic_anemia | 1 | Macrocytic_anemia |
"Dyssegmental_dysplasia,_Silverman-Handmaker_type" | 1 | "Dyssegmental_dysplasia,_Silverman-Handmaker_type" |
"Pulmonary_hypertension,_familial_primary" | 1 | "Pulmonary_hypertension,_familial_primary" |
Leopard_syndrome | 1 | Leopard_syndrome |
Dubin-Johnson_syndrome | 1 | Dubin-Johnson_syndrome |
Osseous_heteroplasia | 1 | Osseous_heteroplasia |
Adiponectin_deficiency | 1 | Adiponectin_deficiency |
Heme_oxygenase-1_deficiency | 1 | Heme_oxygenase-1_deficiency |
"Xanthinuria,_type_I" | 1 | "Xanthinuria,_type_I" |
Leprosy | 1 | Leprosy |
"Nevus,_epidermal,_epidermolytic_hyperkeratotic_type" | 1 | "Nevus,_epidermal,_epidermolytic_hyperkeratotic_type" |
Orofacial_cleft | 1 | Orofacial_cleft |
Nephrogenic_syndrome_of_inappropriate_antidiuresis | 1 | Nephrogenic_syndrome_of_inappropriate_antidiuresis |
Wegener_granulomatosis | 1 | Wegener_granulomatosis |
GRACILE_syndrome | 1 | GRACILE_syndrome |
"LPA_deficiency,_congenital" | 1 | "LPA_deficiency,_congenital" |
Piebaldism | 1 | Piebaldism |
Pendred_syndrome | 1 | Pendred_syndrome |
Hyperthyroidism | 1 | Hyperthyroidism |
Pallister-Hall_syndrome | 1 | Pallister-Hall_syndrome |
Hypoplastic_left_heart_syndrome | 1 | Hypoplastic_left_heart_syndrome |
Hypoprothrombinemia | 1 | Hypoprothrombinemia |
N-acetylglutamate_synthase_deficiency | 1 | N-acetylglutamate_synthase_deficiency |
WHIM_syndrome | 1 | WHIM_syndrome |
Combined_hyperlipemia | 1 | Combined_hyperlipemia |
"Aneurysm,_familial_arterial" | 1 | "Aneurysm,_familial_arterial" |
DNA_ligase_I_deficiency | 1 | DNA_ligase_I_deficiency |
Merkel_cell_carcinoma | 1 | Merkel_cell_carcinoma |
Acquired_long_QT_syndrome | 1 | Acquired_long_QT_syndrome |
"Prolactinoma,_hyperparathyroidism,_carcinoid_syndrome" | 1 | "Prolactinoma,_hyperparathyroidism,_carcinoid_syndrome" |
HARP_syndrome | 1 | HARP_syndrome |
"Hematuria,_familial_benign" | 1 | "Hematuria,_familial_benign" |
L-2-hydroxyglutaric_aciduria | 1 | L-2-hydroxyglutaric_aciduria |
Bone_mineral_density_variability | 1 | Bone_mineral_density_variability |
6-mercaptopurine_sensitivity | 1 | 6-mercaptopurine_sensitivity |
Fructosuria | 1 | Fructosuria |
"Chorea,_hereditary_benign" | 1 | "Chorea,_hereditary_benign" |
Sutherland-Haan_syndrome-like | 1 | Sutherland-Haan_syndrome-like |
Advanced_sleep_phase_syndrome | 1 | Advanced_sleep_phase_syndrome |
Schindler_disease | 1 | Schindler_disease |
Hypoaldosteronism | 1 | Hypoaldosteronism |
Infundibular_hypoplasia_and_hypopituitarism | 1 | Infundibular_hypoplasia_and_hypopituitarism |
"Nucleoside_phosphorylase_deficiency,_immunodeficiency_due_to" | 1 | "Nucleoside_phosphorylase_deficiency,_immunodeficiency_due_to" |
Malonyl-CoA_decarboxylase_deficiency | 1 | Malonyl-CoA_decarboxylase_deficiency |
Cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy | 1 | Cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy |
Homocysteine_plasma_level | 1 | Homocysteine_plasma_level |
"Sandhoff_disease,_infantile,_juvenile,_and_adult_forms" | 1 | "Sandhoff_disease,_infantile,_juvenile,_and_adult_forms" |
Brunner_syndrome | 1 | Brunner_syndrome |
Juberg-Marsidi_syndrome | 1 | Juberg-Marsidi_syndrome |
Enterokinase_deficiency | 1 | Enterokinase_deficiency |
"Maculopathy,_bull's-eye" | 1 | "Maculopathy,_bull's-eye" |
Angiotensin_I-converting_enzyme | 1 | Angiotensin_I-converting_enzyme |
Craniofrontonasal_dysplasia | 1 | Craniofrontonasal_dysplasia |
Antithrombin_III_deficiency | 1 | Antithrombin_III_deficiency |
Adrenocortical_insufficiency | 1 | Adrenocortical_insufficiency |
"Myxoma,_intracardiac" | 1 | "Myxoma,_intracardiac" |
Anophthalmia | 1 | Anophthalmia |
"IgG_receptor_I,_phagocytic,_familial_deficiency_of" | 1 | "IgG_receptor_I,_phagocytic,_familial_deficiency_of" |
Hyperthroidism | 1 | Hyperthroidism |
Selective_T-cell_defect | 1 | Selective_T-cell_defect |
Heterotopia | 1 | Heterotopia |
Pelger-Huet_anomaly | 1 | Pelger-Huet_anomaly |
Fibular_hypoplasia_and_complex_brachydactyly | 1 | Fibular_hypoplasia_and_complex_brachydactyly |
Leukocyte_adhesion_deficiency | 1 | Leukocyte_adhesion_deficiency |
Ketoacidosis | 1 | Ketoacidosis |
Darier_disease | 1 | Darier_disease |
Weyers_acrodental_dysostosis | 1 | Weyers_acrodental_dysostosis |
Ribose_5-phosphate_isomerase_deficiency | 1 | Ribose_5-phosphate_isomerase_deficiency |
Fucosidosis | 1 | Fucosidosis |
Gnthodiaphyseal_dysplasia | 1 | Gnthodiaphyseal_dysplasia |
Vertical_talus | 1 | Vertical_talus |
McCune-Albright_syndrome | 1 | McCune-Albright_syndrome |
Glycerol_kinase_deficiency | 1 | Glycerol_kinase_deficiency |
Erythermalgia | 1 | Erythermalgia |
IgE_levels_QTL | 1 | IgE_levels_QTL |
2-methylbutyrylglycinuria | 1 | 2-methylbutyrylglycinuria |
Witkop_syndrome | 1 | Witkop_syndrome |
Norum_disease | 1 | Norum_disease |
"Glucose_transport_defect,_blood-brain_barrier" | 1 | "Glucose_transport_defect,_blood-brain_barrier" |
Isovaleric_acidemia | 1 | Isovaleric_acidemia |
MASP2_deficiency | 1 | MASP2_deficiency |
Myoneurogastrointestinal_encephalomyopathy_syndrome | 1 | Myoneurogastrointestinal_encephalomyopathy_syndrome |
Self-healing_collodion_baby | 1 | Self-healing_collodion_baby |
Epstein_syndrome | 1 | Epstein_syndrome |
Beare-Stevenson_cutis_gyrata_syndrome | 1 | Beare-Stevenson_cutis_gyrata_syndrome |
BCG_infection | 1 | BCG_infection |
High-molecular-weight_kininogen_deficiency | 1 | High-molecular-weight_kininogen_deficiency |
Ewing_sarcoma | 1 | Ewing_sarcoma |
Acampomelic_campolelic_dysplasia | 1 | Acampomelic_campolelic_dysplasia |
"Butterfly_dystrophy,_retinal" | 1 | "Butterfly_dystrophy,_retinal" |
Pallidopontonigral_degeneration | 1 | Pallidopontonigral_degeneration |
Cystic_fibrosis | 1 | Cystic_fibrosis |
GAMT_deficiency | 1 | GAMT_deficiency |
"Carpal_tunnel_syndrome,_familial" | 1 | "Carpal_tunnel_syndrome,_familial" |
Dysprothrombinemia | 1 | Dysprothrombinemia |
3-methylglutaconic_aciduria | 1 | 3-methylglutaconic_aciduria |
Gitelman_syndrome | 1 | Gitelman_syndrome |
AMP_deaminase_deficiency | 1 | AMP_deaminase_deficiency |
"CD8_deficiency,_familial" | 1 | "CD8_deficiency,_familial" |
"Beta-2-adrenoreceptor_agonist,_reduced_response_to" | 1 | "Beta-2-adrenoreceptor_agonist,_reduced_response_to" |
"Bile_acid_malabsorption,_primary" | 1 | "Bile_acid_malabsorption,_primary" |
Hyperproinsulinemia | 1 | Hyperproinsulinemia |
"Pneumothorax,_primary_spontaneous" | 1 | "Pneumothorax,_primary_spontaneous" |
Bruck_syndrome | 1 | Bruck_syndrome |
Bart-Pumphrey_syndrome | 1 | Bart-Pumphrey_syndrome |
Cold-induced_autoinflammatory_syndrome | 1 | Cold-induced_autoinflammatory_syndrome |
Small_patella_syndrome | 1 | Small_patella_syndrome |
"Robinow_syndrome,_autosomal_recessive" | 1 | "Robinow_syndrome,_autosomal_recessive" |
Wolff-Parkinson-White_syndrome | 1 | Wolff-Parkinson-White_syndrome |
Giant_axonal_neuropathy | 1 | Giant_axonal_neuropathy |
Neuroectodermal_tumors | 1 | Neuroectodermal_tumors |
Resting_heart_rate | 1 | Resting_heart_rate |
Response_to_morphine-6-glucuronide | 1 | Response_to_morphine-6-glucuronide |
Holocarboxylase_synthetase_deficiency | 1 | Holocarboxylase_synthetase_deficiency |
"Beryllium_disease,_chronic" | 1 | "Beryllium_disease,_chronic" |
SMED_Strudwick_type | 1 | SMED_Strudwick_type |
Hartnup_disorder | 1 | Hartnup_disorder |
Desmosterolosis | 1 | Desmosterolosis |
Knobloch_syndrome | 1 | Knobloch_syndrome |
Nail-patella_syndrome | 1 | Nail-patella_syndrome |
Rapp-Hodgkin_syndrome | 1 | Rapp-Hodgkin_syndrome |
"Symphalangism,_proximal" | 1 | "Symphalangism,_proximal" |
Mesangial_sclerosis | 1 | Mesangial_sclerosis |
"SARS,_progression_of" | 1 | "SARS,_progression_of" |
Trismus-pseudocomptodactyly_syndrome | 1 | Trismus-pseudocomptodactyly_syndrome |
Anhaptoglobinemia | 1 | Anhaptoglobinemia |
Cerebrotendinous_xanthomatosis | 1 | Cerebrotendinous_xanthomatosis |
Pseudovaginal_perineoscrotal_hypospadias | 1 | Pseudovaginal_perineoscrotal_hypospadias |
Adrenal_adenoma | 1 | Adrenal_adenoma |
Hyperlysinemia | 1 | Hyperlysinemia |
Total_iodide_organification_defect | 1 | Total_iodide_organification_defect |
Thiamine-responsive_megaloblastic_anemia_syndrome | 1 | Thiamine-responsive_megaloblastic_anemia_syndrome |
Atransferrinemia | 1 | Atransferrinemia |
"B-cell_non-Hodgkin_lymphoma,_high-grade" | 1 | "B-cell_non-Hodgkin_lymphoma,_high-grade" |
Myeloperoxidase_deficiency | 1 | Myeloperoxidase_deficiency |
Alpha-methylacyl-CoA_racemase_deficiency | 1 | Alpha-methylacyl-CoA_racemase_deficiency |
Marshall_syndrome | 1 | Marshall_syndrome |
Frontometaphyseal_dysplasia | 1 | Frontometaphyseal_dysplasia |
Intrinsic_factor_deficiency | 1 | Intrinsic_factor_deficiency |
"Cerebrovascular_disease,_occlusive" | 1 | "Cerebrovascular_disease,_occlusive" |
Bosley-Salih-Alorainy_syndrome | 1 | Bosley-Salih-Alorainy_syndrome |
"Pyloric_stenosis,_infantile_hypertrophic" | 1 | "Pyloric_stenosis,_infantile_hypertrophic" |
"Kallikrein,_decreased_urinary_activity_of" | 1 | "Kallikrein,_decreased_urinary_activity_of" |
"Chylomicronemia_syndrome,_familial" | 1 | "Chylomicronemia_syndrome,_familial" |
Sebastian_syndrome | 1 | Sebastian_syndrome |
2-methyl-3-hydroxybutyryl-CoA_dehydrogenase_deficiency | 1 | 2-methyl-3-hydroxybutyryl-CoA_dehydrogenase_deficiency |
Rokitansky-Kuster-Hauser_syndrome | 1 | Rokitansky-Kuster-Hauser_syndrome |
Premature_chromosome_condensation_with_microcephaly_and_mental_retardation | 1 | Premature_chromosome_condensation_with_microcephaly_and_mental_retardation |
Fuchs_endothelial_corneal_dystrophy | 1 | Fuchs_endothelial_corneal_dystrophy |
Thyrotropin-releasing_hormone_deficiency | 1 | Thyrotropin-releasing_hormone_deficiency |
Carnitine-acylcarnitine_translocase_deficiency | 1 | Carnitine-acylcarnitine_translocase_deficiency |
Growth_retardation | 1 | Growth_retardation |
Goldberg-Shprintzen_megacolon_syndrome | 1 | Goldberg-Shprintzen_megacolon_syndrome |
Multiple_malignancy_syndrome | 1 | Multiple_malignancy_syndrome |
Keratoconus | 1 | Keratoconus |
UV-induced_skin_damage | 1 | UV-induced_skin_damage |
Abacavir_hypersensitivity | 1 | Abacavir_hypersensitivity |
"Hemosiderosis,_systemic,_due_to_aceruloplasminemia" | 1 | "Hemosiderosis,_systemic,_due_to_aceruloplasminemia" |
"Acid-labile_subunit,_deficiency_of" | 1 | "Acid-labile_subunit,_deficiency_of" |
Autoimmune_thyroid_disease | 1 | Autoimmune_thyroid_disease |
Polymicrogyria | 1 | Polymicrogyria |
Multiple_sulfatase_deficiency | 1 | Multiple_sulfatase_deficiency |
"Carcinoid_tumors,_intestinal" | 1 | "Carcinoid_tumors,_intestinal" |
Immunoglobulin_A_deficiency | 1 | Immunoglobulin_A_deficiency |
Branchiootic_syndrome | 1 | Branchiootic_syndrome |
Salla_disease | 1 | Salla_disease |
"Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis" | 1 | "Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis" |
Axenfeld_anomaly | 1 | Axenfeld_anomaly |
"Hypoplastic_enamel_pitting,_localized" | 1 | "Hypoplastic_enamel_pitting,_localized" |
Mast_cell_leukemia | 1 | Mast_cell_leukemia |
Papillary_serous_carcinoma_of_the_peritoneum | 1 | Papillary_serous_carcinoma_of_the_peritoneum |
Down_syndrome | 1 | Down_syndrome |
SCID | 1 | SCID |
Double-outlet_right_ventricle | 1 | Double-outlet_right_ventricle |
"Hematopoiesis,_cyclic" | 1 | "Hematopoiesis,_cyclic" |
"Hemangioblastoma,_cerebellar" | 1 | "Hemangioblastoma,_cerebellar" |
Emphysema | 1 | Emphysema |
Shprintzen-Goldberg_syndrome | 1 | Shprintzen-Goldberg_syndrome |
Cortisol_resistance | 1 | Cortisol_resistance |
Kaposi_sarcoma | 1 | Kaposi_sarcoma |
Rh-mod_syndrome | 1 | Rh-mod_syndrome |
Campomelic_dysplasia | 1 | Campomelic_dysplasia |
Lupus_erythematosus | 1 | Lupus_erythematosus |
Congenital_cataracts | 1 | Congenital_cataracts |
Myoglobinuria/hemolysis_due_to_PGK_deficiency | 1 | Myoglobinuria/hemolysis_due_to_PGK_deficiency |
Porencephaly | 1 | Porencephaly |
Fertile_eunuch_syndrome | 1 | Fertile_eunuch_syndrome |
Tropical_calcific_pancreatitis | 1 | Tropical_calcific_pancreatitis |
Guttmacher_syndrome | 1 | Guttmacher_syndrome |
Alagille_syndrome | 1 | Alagille_syndrome |
Fructose-bisphosphatase_deficiency | 1 | Fructose-bisphosphatase_deficiency |
Atherosclerosis | 1 | Atherosclerosis |
"Epithelial_ovarian_cancer,_somatic" | 1 | "Epithelial_ovarian_cancer,_somatic" |
Bamforth-Lazarus_syndrome | 1 | Bamforth-Lazarus_syndrome |
Phenylthiocarbamide_tasting | 1 | Phenylthiocarbamide_tasting |
"Pyogenic_sterile_arthritis,_pyoderma_gangrenosum,_and_acne" | 1 | "Pyogenic_sterile_arthritis,_pyoderma_gangrenosum,_and_acne" |
"SEMD,_Pakistani_type" | 1 | "SEMD,_Pakistani_type" |
Thyroxine-binding_globulin_deficiency | 1 | Thyroxine-binding_globulin_deficiency |
Somatotrophinoma | 1 | Somatotrophinoma |
Tauopathy_and_respiratory_failure | 1 | Tauopathy_and_respiratory_failure |
Amyloid_neuropathy | 1 | Amyloid_neuropathy |
Crigler-Najjar_syndrome | 1 | Crigler-Najjar_syndrome |
Craniometaphyseal_dysplasia | 1 | Craniometaphyseal_dysplasia |
Lowe_syndrome | 1 | Lowe_syndrome |
Meningococcal_disease | 1 | Meningococcal_disease |
ADULT_syndrome | 1 | ADULT_syndrome |
Carcinoid_tumor_of_lung | 1 | Carcinoid_tumor_of_lung |
Properdin_deficiency | 1 | Properdin_deficiency |
Coffin-Lowry_syndrome | 1 | Coffin-Lowry_syndrome |
Fucosyltransferase-6_deficiency | 1 | Fucosyltransferase-6_deficiency |
Werner_syndrome | 1 | Werner_syndrome |
"Conjunctivitis,_ligneous" | 1 | "Conjunctivitis,_ligneous" |
HPRT-related_gout | 1 | HPRT-related_gout |
"Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome" | 1 | "Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome" |
Succinic_semialdehyde_dehydrogenase_deficiency | 1 | Succinic_semialdehyde_dehydrogenase_deficiency |
IRAK4_deficiency | 1 | IRAK4_deficiency |
Insensitivity_to_pain | 1 | Insensitivity_to_pain |
"Homocystinuria-megaloblastic_anemia,_cbl_E_type" | 1 | "Homocystinuria-megaloblastic_anemia,_cbl_E_type" |
Format: map
Filename | Size | md5 |
---|---|---|
Disease-map.txt | 66.69 KB | adda906399e13b46ade65703cd4357db |
genomic_resource.yaml | 289.0 B | 5595529565187e566a9cf170b172cca0 |
statistics/ |