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