Resource

Id: gene_properties/gene_sets/disease
Type: gene_set_collection
Version: 0
Summary:
Description:
Labels:

Gene set ID: disease

Statistics:

Number of gene sets: 1280

Number of unique genes: 1777

Count of genes per gene set
disease
Count of gene sets per gene
disease
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"

Gene sets file:

Disease-map.txt

Format: map

Files

Filename Size md5
Disease-map.txt 66.69 KB adda906399e13b46ade65703cd4357db
genomic_resource.yaml 289.0 B 5595529565187e566a9cf170b172cca0
statistics/