About: Autosomal recessive disorders

Property	Value
rdfs:label	Autosomal recessive disorders
rdfs:subClassOf	yago:Disorder114052403
is rdf:type of	dbpedia:Fanconi_anemia dbpedia:Bloom_syndrome dbpedia:Krabbe_disease dbpedia:Refsum_disease dbpedia:Cystinosis dbpedia:Kostmann_syndrome dbpedia:Hemophagocytic_lymphohistiocytosis dbpedia:Pendred_syndrome dbpedia:Rotor_syndrome dbpedia:Cystinuria dbpedia:Trimethylaminuria dbpedia:Glanzmann's_thrombasthenia dbpedia:Renal-hepatic-pancreatic_dysplasia dbpedia:Chronic_progressive_external_ophthalmoplegia dbpedia:Propionic_acidemia dbpedia:Tangier_disease dbpedia:Craniodiaphyseal_dysplasia dbpedia:Lipoid_congenital_adrenal_hyperplasia dbpedia:Johanson–Blizzard_syndrome dbpedia:Rothmund–Thomson_syndrome dbpedia:Roberts_syndrome dbpedia:Ellis–van_Creveld_syndrome dbpedia:Bare_lymphocyte_syndrome dbpedia:Long-chain_3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency dbpedia:Apparent_mineralocorticoid_excess_syndrome dbpedia:Neuronal_ceroid_lipofuscinosis dbpedia:Holocarboxylase_synthetase_deficiency dbpedia:Cartilage–hair_hypoplasia dbpedia:Niemann-Pick_disease,_SMPD1-associated dbpedia:EEM_syndrome dbpedia:Hereditary_pyropoikilocytosis dbpedia:Letterer–Siwe_disease dbpedia:Galloway_Mowat_syndrome dbpedia:Triple-A_syndrome dbpedia:Fumarase_deficiency dbpedia:Laurence–Moon_syndrome dbpedia:Acatalasia dbpedia:Carbamoyl_phosphate_synthetase_I_deficiency dbpedia:Ethylmalonic_encephalopathy dbpedia:Pyruvate_carboxylase_deficiency dbpedia:Mitochondrial_neurogastrointestinal_encephalopathy_syndrome dbpedia:Prolidase_deficiency dbpedia:17-beta-hydroxysteroid_dehydrogenase_deficiency dbpedia:Galactose_epimerase_deficiency dbpedia:Bietti's_crystalline_dystrophy dbpedia:Urocanic_aciduria dbpedia:Wilson's_disease dbpedia:Tay–Sachs_disease dbpedia:Friedreich's_ataxia dbpedia:Canavan_disease dbpedia:Methemoglobinemia dbpedia:Laron_syndrome dbpedia:Harlequin-type_ichthyosis dbpedia:Werner_syndrome dbpedia:Lafora_disease dbpedia:Gastroschisis dbpedia:Fraser_syndrome dbpedia:Mismatch_repair_cancer_syndrome dbpedia:Triosephosphate_isomerase_deficiency dbpedia:Smith-Lemli-Opitz_syndrome dbpedia:Acheiropodia dbpedia:Hartnup_disease dbpedia:Sabinas_brittle_hair_syndrome dbpedia:Congenital_insensitivity_to_pain_with_anhidrosis dbpedia:Gitelman_syndrome dbpedia:Nephronophthisis dbpedia:Lamellar_ichthyosis dbpedia:Galactosialidosis dbpedia:Meckel_syndrome dbpedia:Biotinidase_deficiency dbpedia:Beta-mannosidosis dbpedia:Shwachman–Bodian–Diamond_syndrome dbpedia:Familial_dysautonomia dbpedia:Hypermethioninemia dbpedia:Atelosteogenesis,_type_II dbpedia:Mulibrey_nanism dbpedia:Oculocutaneous_albinism_type_I dbpedia:Systemic_primary_carnitine_deficiency dbpedia:Acute_fatty_liver_of_pregnancy dbpedia:Wolcott-Rallison_syndrome dbpedia:Beta-ketothiolase_deficiency dbpedia:Glutaric_aciduria_type_1 dbpedia:Behr_syndrome dbpedia:Glutaric_acidemia_type_2 dbpedia:Very_long-chain_acyl-coenzyme_A_dehydrogenase_deficiency dbpedia:Carpenter_syndrome dbpedia:Hyperlysinemia dbpedia:Abdallat_Davis_Farrage_syndrome dbpedia:2-Hydroxyglutaric_aciduria dbpedia:Malonyl-CoA_decarboxylase_deficiency dbpedia:6-Pyruvoyltetrahydropterin_synthase_deficiency dbpedia:Autosomal_recessive_multiple_epiphyseal_dysplasia dbpedia:GM2_gangliosidoses dbpedia:Sarcosinemia dbpedia:Raine_syndrome dbpedia:Arterial_tortuosity_syndrome dbpedia:Ablepharon_macrostomia_syndrome dbpedia:Zunich–Kaye_syndrome dbpedia:Orotic_aciduria dbpedia:Cystathioninuria dbpedia:Infantile_neuroaxonal_dystrophy dbpedia:Microvillous_inclusion_disease dbpedia:Hypervalinemia dbpedia:Woodhouse–Sakati_syndrome dbpedia:Antley-Bixler_syndrome dbpedia:Carnosinemia dbpedia:Cystic_fibrosis dbpedia:Xeroderma_pigmentosum dbpedia:Sickle-cell_disease dbpedia:Glycogen_storage_disease_type_V dbpedia:Congenital_adrenal_hyperplasia dbpedia:Glycogen_storage_disease_type_I dbpedia:Familial_Mediterranean_fever dbpedia:Situs_inversus dbpedia:Usher_syndrome dbpedia:Sly_syndrome dbpedia:Nijmegen_breakage_syndrome dbpedia:Kindler_syndrome dbpedia:Type_I_tyrosinemia dbpedia:Gangliosidosis dbpedia:Alpha-mannosidosis dbpedia:DOOR_syndrome dbpedia:Hurler_syndrome dbpedia:Berdon_syndrome dbpedia:Lysinuric_protein_intolerance dbpedia:Giant_axonal_neuropathy dbpedia:3-Methylcrotonyl-CoA_carboxylase_deficiency dbpedia:Fukuyama_congenital_muscular_dystrophy dbpedia:Diastrophic_dysplasia dbpedia:Glutathione_synthetase_deficiency dbpedia:Unverricht–Lundborg_disease dbpedia:Papillon–Lefèvre_syndrome dbpedia:Leukocyte_adhesion_deficiency dbpedia:Gillespie_syndrome dbpedia:Finnish_heritage_disease dbpedia:Jansky-Bielschowsky_disease dbpedia:Niemann-Pick_disease,_type_C dbpedia:Carnitine_palmitoyltransferase_I_deficiency dbpedia:GM2-gangliosidosis,_AB_variant dbpedia:Carnitine-acylcarnitine_translocase_deficiency dbpedia:Mitochondrial_trifunctional_protein_deficiency dbpedia:Otospondylomegaepiphyseal_dysplasia dbpedia:Lethal_congenital_contracture_syndrome dbpedia:Tetrahydrobiopterin_deficiency dbpedia:Fountain_syndrome dbpedia:Short-chain_acyl-coenzyme_A_dehydrogenase_deficiency dbpedia:Sickle_cell_trait dbpedia:Griscelli_syndrome dbpedia:N-Acetylglutamate_synthase_deficiency dbpedia:GM1_gangliosidoses dbpedia:Isobutyryl-coenzyme_A_dehydrogenase_deficiency dbpedia:Dihydropyrimidine_dehydrogenase_deficiency dbpedia:Lecithin_cholesterol_acyltransferase_deficiency dbpedia:Familial_isolated_vitamin_E_deficiency dbpedia:Rapadilino_syndrome dbpedia:Pipecolic_acidemia dbpedia:Renal_dysplasia-limb_defects_syndrome dbpedia:Netherton_syndrome dbpedia:Vici_syndrome dbpedia:Hyperprolinemia dbpedia:CAMFAK_syndrome dbpedia:Multiple_sulfatase_deficiency dbpedia:Tyrosinemia_type_III dbpedia:MORM_syndrome dbpedia:Gerodermia_osteodysplastica dbpedia:Iminoglycinuria dbpedia:Homocystinuria dbpedia:Aceruloplasminemia dbpedia:Metachromatic_leukodystrophy dbpedia:Chédiak–Higashi_syndrome dbpedia:Glycogen_storage_disease_type_II dbpedia:Primary_ciliary_dyskinesia dbpedia:Cenani_Lenz_syndactylism dbpedia:Maple_syrup_urine_disease dbpedia:Batten_disease dbpedia:Gunther_disease dbpedia:Glycogen_storage_disease_type_III dbpedia:Urbach–Wiethe_disease dbpedia:Sanfilippo_syndrome dbpedia:Methylmalonic_acidemia dbpedia:Morquio_syndrome dbpedia:Nemaline_myopathy dbpedia:Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency dbpedia:Niemann–Pick_disease dbpedia:Bernard–Soulier_syndrome dbpedia:Cockayne_syndrome dbpedia:Congenital_hepatic_fibrosis dbpedia:Farber_disease dbpedia:Infantile_free_sialic_acid_storage_disease dbpedia:Wolman_disease dbpedia:Cholesteryl_ester_storage_disease dbpedia:Sandhoff_disease dbpedia:Atransferrinemia dbpedia:Oculocutaneous_albinism dbpedia:Adenosine_deaminase_deficiency dbpedia:Chorea_acanthocytosis dbpedia:Isovaleric_acidemia dbpedia:Sugarman_syndrome dbpedia:Citrullinemia dbpedia:Meleda_disease dbpedia:Restrictive_dermopathy dbpedia:Omenn_syndrome dbpedia:Carnitine_palmitoyltransferase_II_deficiency dbpedia:Salla_disease dbpedia:ZAP70_deficiency dbpedia:Impossible_syndrome dbpedia:Adenine_phosphoribosyltransferase_deficiency dbpedia:GAPO_syndrome dbpedia:Acrodermatitis_enteropathica dbpedia:Histidinemia dbpedia:Nezelof_syndrome dbpedia:Cerebrotendineous_xanthomatosis dbpedia:Mevalonate_kinase_deficiency dbpedia:Ornithine_translocase_deficiency dbpedia:Compound_heterozygosity dbpedia:Rabson–Mendenhall_syndrome dbpedia:Galactokinase_deficiency dbpedia:Aldolase_A_deficiency dbpedia:Infantile_Refsum_disease dbpedia:Oculodentodigital_dysplasia dbpedia:Keutel_syndrome dbpedia:Micro_syndrome dbpedia:Acrocallosal_syndrome dbpedia:Fibrochondrogenesis dbpedia:Hypertryptophanemia dbpedia:Congenital_ichthyosiform_erythroderma dbpedia:IBIDS_syndrome dbpedia:EAST_syndrome dbpedia:Kapur-Toriello_syndrome dbpedia:Aminolevulinic_acid_dehydratase_deficiency_porphyria dbpedia:BIDS_syndrome dbpedia:Nakajo_syndrome dbpedia:Argininemia dbpedia:Tyrosinemia_type_II dbpedia:D-Glyceric_acidemia dbpedia:Weissenbacher-Zweymüller_syndrome dbpedia:Juvenile_Primary_Lateral_Sclerosis dbpedia:Galactose-1-phosphate_uridylyltransferase_galactosemia dbpedia:Zazam_Sheriff_Phillips_syndrome dbpedia:Yunis-Varon_syndrome dbpedia:Survival_motor_neuron_spinal_muscular_atrophy dbpedia:Ochoa_syndrome dbpedia:GauCher's_disease dbpedia:PhosphofruCtokinase_deficiency dbpedia:PseuDoxanthoma_elasticum dbpedia:AdenylosuCCinate_lyase_deficiency dbpedia:SuCCinic_semialdehyde_dehydrogenase_deficiency dbpedia:PseuDo-Hurler_polydystrophy dbpedia:OguChi_disease dbpedia:PseuDodominance dbpedia:RuDiger_syndrome dbpedia:DonohuE_syndrome dbpedia:FuCosidosis dbpedia:MuColipidosis_type_IV dbpedia:AspartylgluCosaminuria dbpedia:KauFman_oculocerebrofacial_syndrome dbpedia:GuAnidinoacetate_methyltransferase_deficiency dbpedia:Congenital_adrenal_hyperplasia_duE_to_21-hydroxylase_deficiency dbpedia:DuBin–Johnson_syndrome dbpedia:Hermansky–PuDlak_syndrome dbpedia:AdduCted_thumb_syndrome dbpedia:Persistent_Mullerian_duCt_syndrome dbpedia:Abderhalden–KauFmann–Lignac_syndrome dbpedia:MuColipidosis dbpedia:ArgininosuCCinic_aciduria dbpedia:BluE_diaper_syndrome dbpedia:LuCEy-Driscoll_syndrome dbpedia:Purine_nuCleoside_phosphorylase_deficiency dbpedia:Essential_fruCtosuria dbpedia:GluCose-galactose_malabsorption dbpedia:ReproduCtive_compensation dbpedia:DuBowitz_syndrome