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About:
Autosomal recessive disorders
An Entity of Type:
Concept
,
from Named Graph:
http://dbpedia.org
,
within Data Space:
dbpedia.org
Property
Value
dbo:
wikiPageID
14683480
(xsd:integer)
dbo:
wikiPageRevisionID
953558043
(xsd:integer)
dbp:
wikiPageUsesTemplate
dbt
:Commonscat
dbt
:CatAutoTOC
dbt
:Diffuse
rdf:
type
skos
:Concept
rdfs:
label
Autosomal recessive disorders
(en)
skos:
broader
dbc
:Genetic_disorders_by_inheritance
skos:
prefLabel
Autosomal recessive disorders
(en)
prov:
wasDerivedFrom
wikipedia-en
:Category:Autosomal_recessive_disorders?oldid=953558043&ns=14
is
dbo:
wikiPageWikiLink
of
dbr
:Carnitine_palmitoyltransferase_II_deficiency
dbr
:Cartilage–hair_hypoplasia
dbr
:Aminolevulinic_acid_dehydratase_deficiency_porphyria
dbr
:Amish_lethal_microcephaly
dbr
:Behr_syndrome
dbr
:Primary_ciliary_dyskinesia
dbr
:Propionic_acidemia
dbr
:Pseudoxanthoma_elasticum
dbr
:Pyruvate_carboxylase_deficiency
dbr
:Ruijs-Aalfs_syndrome
dbr
:Sandhoff_disease
dbr
:Sanfilippo_syndrome
dbr
:Neuronal_ceroid_lipofuscinosis
dbr
:Nijmegen_breakage_syndrome
dbr
:MORM_syndrome
dbr
:MPI-CDG
dbr
:MUTYH-associated_polyposis
dbr
:Meleda_disease
dbr
:Metachromatic_leukodystrophy
dbr
:Nephronophthisis
dbr
:Persistent_Müllerian_duct_syndrome
dbr
:Omenn_syndrome
dbr
:Pascual-Castroviejo_syndrome_type_1
dbr
:Wolcott–Rallison_syndrome
dbr
:Prolidase_deficiency
dbr
:Sarcosinemia
dbr
:Bare_lymphocyte_syndrome
dbr
:Biotinidase_deficiency
dbr
:Alkaptonuria
dbr
:Apparent_mineralocorticoid_excess_syndrome
dbr
:Arginine:glycine_amidinotransferase_deficiency
dbr
:Homocystinuria
dbr
:Beta-ketothiolase_deficiency
dbr
:Beta-mannosidosis
dbr
:Cystathioninuria
dbr
:Cystic_fibrosis
dbr
:Cystinuria
dbr
:D-glycerate_dehydrogenase_deficiency
dbr
:DOOR_syndrome
dbr
:Usher_syndrome
dbr
:De_Barsy_syndrome
dbr
:Dermatoosteolysis,_Kirghizian_type
dbr
:Donohue_syndrome
dbr
:Dopamine_beta_hydroxylase_deficiency
dbr
:EEM_syndrome
dbr
:Infantile_Refsum_disease
dbr
:Infantile_cerebellar_retinal_degeneration
dbr
:Infantile_cerebral_and_cerebellar_atro...th_postnatal_progressive_microcephaly
dbr
:Infantile_neuroaxonal_dystrophy
dbr
:Jalili_syndrome
dbr
:Johanson–Blizzard_syndrome
dbr
:Lethal_congenital_contracture_syndrome
dbr
:Letterer–Siwe_disease
dbr
:Leukocyte_adhesion_deficiency
dbr
:Leukocyte_adhesion_deficiency-1
dbr
:Leydig_cell_hypoplasia
dbr
:Pendred_syndrome
dbr
:Posterior_column_ataxia-retinitis_pigmentosa_syndrome
dbr
:Pseudodominance
dbr
:Pterin-4_alpha-carbinolamine_dehydratase_deficiency
dbr
:North_American_Indian_childhood_cirrhosis
dbr
:Roberts_syndrome
dbr
:Wrinkly_skin_syndrome
dbr
:Ellis–Van_Creveld_syndrome
dbr
:Essential_fructosuria
dbr
:Generalized_arterial_calcification_of_infancy
dbr
:Mietens_syndrome
dbr
:Woodhouse–Sakati_syndrome
dbr
:Vici_syndrome
dbr
:Oculocutaneous_albinism_type_I
dbr
:Pyknoachondrogenesis
dbr
:RAPADILINO_syndrome
dbr
:17β-Hydroxysteroid_dehydrogenase_III_deficiency
dbr
:Citrullinemia
dbr
:Cockayne_syndrome
dbr
:Enamel-renal_syndrome
dbr
:Endocardial_fibroelastosis
dbr
:GM1_gangliosidoses
dbr
:GM2_gangliosidoses
dbr
:Galactose_epimerase_deficiency
dbr
:Gastroschisis
dbr
:Gaucher's_disease
dbr
:Gillespie_syndrome
dbr
:Glanzmann's_thrombasthenia
dbr
:Glycogen_storage_disease_type_I
dbr
:Glycogen_storage_disease_type_II
dbr
:Glycogen_storage_disease_type_III
dbr
:Boucher-Neuhäuser_syndrome
dbr
:Mitochondrial_DNA_depletion_syndrome
dbr
:Morquio_syndrome
dbr
:NGLY1_deficiency
dbr
:Congenital_adrenal_hyperplasia
dbr
:Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency
dbr
:Congenital_adrenal_hyperplasia_due_to_17α-hydroxylase_deficiency
dbr
:Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency
dbr
:Congenital_adrenal_hyperplasia_due_to_3β-hydroxysteroid_dehydrogenase_deficiency
dbr
:Congenital_disorder_of_glycosylation_type_IIc
dbr
:Congenital_hepatic_fibrosis
dbr
:Congenital_hypofibrinogenemia
dbr
:Congenital_ichthyosiform_erythroderma
dbr
:Congenital_insensitivity_to_pain_with_anhidrosis
dbr
:Corneal-cerebellar_syndrome
dbr
:Corneal_dystrophy-perceptive_deafness_syndrome
dbr
:Thiamine_responsive_megaloblastic_anemia_syndrome
dbr
:LPS-responsive_beige-like_anchor_protein_deficiency
dbr
:Lafora_disease
dbr
:Ornithine_aminotransferase_deficiency
dbr
:Ornithine_translocase_deficiency
dbr
:Otofaciocervical_syndrome
dbr
:Otospondylomegaepiphyseal_dysplasia
dbr
:Antley–Bixler_syndrome
dbr
:Batten_disease
dbr
:Berdon_syndrome
dbr
:Bernard–Soulier_syndrome
dbr
:Lecithin_cholesterol_acyltransferase_deficiency
dbr
:Calpainopathy
dbr
:Chondrodystrophy
dbr
:Chorea-acanthocytosis
dbr
:Sickle_cell_disease
dbr
:Smith–Lemli–Opitz_syndrome
dbr
:Combarros-Calleja-Leno_syndrome
dbr
:Compound_heterozygosity
dbr
:Fatty-acid_metabolism_disorder
dbr
:Fraser_syndrome
dbr
:Friedreich's_ataxia
dbr
:Fucosidosis
dbr
:Fumarase_deficiency
dbr
:Hall-Riggs_syndrome
dbr
:Hamanishi_Ueba_Tsuji_syndrome
dbr
:Harding_ataxia
dbr
:Keutel_syndrome
dbr
:Kufor–Rakeb_syndrome
dbr
:Papillon–Lefèvre_syndrome
dbr
:Mahvash_disease
dbr
:Sugarman_syndrome
dbr
:Meckel–Gruber_syndrome
dbr
:Microspherophakia
dbr
:Microvillous_inclusion_disease
dbr
:Ochronosis
dbr
:Trimethylaminuria
dbr
:2-Hydroxyglutaric_aciduria
dbr
:6-Pyruvoyltetrahydropterin_synthase_deficiency
dbr
:CANDLE_syndrome
dbr
:Acute_fatty_liver_of_pregnancy
dbr
:Acyl-CoA_oxidase_deficiency
dbr
:Adducted_thumb_syndrome
dbr
:Adenine_phosphoribosyltransferase_deficiency
dbr
:Adenosine_deaminase_2_deficiency
dbr
:Adenosine_deaminase_deficiency
dbr
:Adenylosuccinate_lyase_deficiency
dbr
:Trichothiodystrophy
dbr
:Tyrosinemia
dbr
:Tyrosinemia_type_II
dbr
:Wilson's_disease
dbr
:Distal_spinal_muscular_atrophy_type_1
dbr
:Dubin–Johnson_syndrome
dbr
:Dubowitz_syndrome
dbr
:GAPO_syndrome
dbr
:GM2-gangliosidosis,_AB_variant
dbr
:Galactokinase_deficiency
dbr
:Galactose-1-phosphate_uridylyltransferase_deficiency
dbr
:Galactosialidosis
dbr
:Galloway_Mowat_syndrome
dbr
:Gangliosidosis
dbr
:Gitelman_syndrome
dbr
:H_syndrome
dbr
:Hartnup_disease
dbr
:Heimler_syndrome
dbr
:Jervell_and_Lange-Nielsen_syndrome
dbr
:Juvenile_primary_lateral_sclerosis
dbr
:Lamellar_ichthyosis
dbr
:Late_onset_congenital_adrenal_hyperplasia
dbr
:Laurence–Moon_syndrome
dbr
:Lipoid_congenital_adrenal_hyperplasia
dbr
:Long-chain_3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency
dbr
:Urofacial_syndrome
dbr
:Sabinas_brittle_hair_syndrome
dbr
:3-Methylcrotonyl-CoA_carboxylase_deficiency
dbr
:Acatalasia
dbr
:Acrocallosal_syndrome
dbr
:Al-Raqad_syndrome
dbr
:Albinism_in_humans
dbr
:Aminoacylase_1_deficiency
dbr
:3C_syndrome
dbr
:Cystinosis
dbr
:EAST_syndrome
dbr
:Alpha-aminoadipic_and_alpha-ketoadipic_aciduria
dbr
:Alpha-mannosidosis
dbr
:Alwadei_syndrome
dbr
:Familial_Mediterranean_fever
dbr
:Familial_isolated_vitamin_E_deficiency
dbr
:Fanconi_anemia
dbr
:Baller–Gerold_syndrome
dbr
:Bare_lymphocyte_syndrome_type_II
dbr
:Niemann–Pick_disease
dbr
:Niemann–Pick_disease,_SMPD1-associated
dbr
:Niemann–Pick_disease,_type_C
dbr
:Osteoporosis-pseudoglioma_syndrome
dbr
:Carbamoyl_phosphate_synthetase_I_deficiency
dbr
:Carey_Fineman_Ziter_syndrome
dbr
:Cenani–Lenz_syndactylism
dbr
:Chronic_progressive_external_ophthalmoplegia
dbr
:Chédiak–Higashi_syndrome
dbr
:Diastrophic_dysplasia
dbr
:Dicarboxylic_aminoaciduria
dbr
:Dihydropyrimidine_dehydrogenase_deficiency
dbr
:Dilated_cardiomyopathy_with_ataxia_syndrome
dbr
:Familial_dysautonomia
dbr
:Familial_nasal_acilia
dbr
:Farber_disease
dbr
:Follicle-stimulating_hormone_insensitivity
dbr
:Fountain_syndrome
dbr
:Gerodermia_osteodysplastica
dbr
:Glucose-galactose_malabsorption
dbr
:Glutaric_acidemia_type_2
dbr
:Glutaric_aciduria_type_1
dbr
:Glutathione_synthetase_deficiency
dbr
:Glycine_encephalopathy
dbr
:Glycogen_storage_disease_type_V
dbr
:Goldmann-Favre_syndrome
dbr
:Gonadotropin-releasing_hormone_insensitivity
dbr
:Histidinemia
dbr
:Isobutyryl-coenzyme_A_dehydrogenase_deficiency
dbr
:Isolated_17,20-lyase_deficiency
dbr
:Isovaleric_acidemia
dbr
:Juberg-Hayward_syndrome
dbr
:Kapur–Toriello_syndrome
dbr
:Kaufman_oculocerebrofacial_syndrome
dbr
:Kohlschütter-Tönz_syndrome
dbr
:Restrictive_dermopathy
dbr
:Lucey–Driscoll_syndrome
dbr
:Rabson–Mendenhall_syndrome
dbr
:Refsum_disease
dbr
:2-Methylbutyryl-CoA_dehydrogenase_deficiency
dbr
:Griscelli_syndrome
dbr
:Guanidinoacetate_methyltransferase_deficiency
dbr
:Harlequin-type_ichthyosis
dbr
:Hemophagocytic_lymphohistiocytosis
dbr
:Hermansky–Pudlak_syndrome
dbr
:Atelosteogenesis,_type_II
dbr
:Atransferrinemia
dbr
:Jansky–Bielschowsky_disease
dbr
:Tangier_disease
dbr
:Tay–Sachs_disease
dbr
:Cousin–Walbraum–Cegarra_syndrome
dbr
:Cranio-lenticulo-sutural_dysplasia
dbr
:Craniodiaphyseal_dysplasia
dbr
:Thalassemia
dbr
:Hurler_syndrome
dbr
:Hyperlysinemia
dbr
:Hypermethioninemia
dbr
:Hyperprolinemia
dbr
:Hypertryptophanemia
dbr
:Hypervalinemia
dbr
:Hypomagnesemia_with_secondary_hypocalcemia
dbr
:Marden–Walker_syndrome
dbr
:Young–Madders_syndrome
dbr
:Purine_nucleoside_phosphorylase_deficiency
dbr
:Very_long-chain_acyl-coenzyme_A_dehydrogenase_deficiency
dbr
:Argininemia
dbr
:Argininosuccinic_aciduria
dbr
:ALG1-CDG
dbr
:Abdallat–Davis–Farrage_syndrome
dbr
:Abderhalden–Kaufmann–Lignac_syndrome
dbr
:Abetalipoproteinemia
dbr
:Absent_tibia-polydactyly-arachnoid_cyst_syndrome
dbr
:Acanthosis_nigricans-muscle_cramps-acral_enlargement_syndrome
dbr
:Aceruloplasminemia
dbr
:Acheiropodia
dbr
:Acrodermatitis_enteropathica
dbr
:Aldolase_A_deficiency
dbr
:Kindler_syndrome
dbr
:Laron_syndrome
dbr
:Bietti's_crystalline_dystrophy
dbr
:Bloom_syndrome
dbr
:Blue_diaper_syndrome
dbr
:TRIANGLE_disease
dbr
:Hereditary_folate_malabsorption
dbr
:Hereditary_pyropoikilocytosis
dbr
:Holocarboxylase_synthetase_deficiency
dbr
:Zellweger_spectrum_disorders
dbr
:Mismatch_repair_cancer_syndrome
dbr
:Mitochondrial_complex_II_deficiency
dbr
:Mitochondrial_neurogastrointestinal_encephalopathy_syndrome
dbr
:Reardon-Hall-Slaney_syndrome
dbr
:Triple-A_syndrome
dbr
:Salt_and_pepper_syndrome
dbr
:Arterial_calcification_due_to_CD73_deficiency
dbr
:Arterial_tortuosity_syndrome
dbr
:Aspartylglucosaminuria
dbr
:Autosomal_recessive_GTP_cyclohydrolase_I_deficiency
dbr
:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia
dbr
:Autosomal_recessive_multiple_epiphyseal_dysplasia
dbr
:Maple_syrup_urine_disease
dbr
:CAMFAK_syndrome
dbr
:CHIME_syndrome
dbr
:Phenylketonuria
dbr
:Pipecolic_acidemia
dbr
:Spinal_muscular_atrophy
dbr
:Spondylo-ocular_syndrome
is
dcterms:
subject
of
dbr
:Carnitine_palmitoyltransferase_II_deficiency
dbr
:Cartilage–hair_hypoplasia
dbr
:Aminolevulinic_acid_dehydratase_deficiency_porphyria
dbr
:Amish_lethal_microcephaly
dbr
:Behr_syndrome
dbr
:Primary_ciliary_dyskinesia
dbr
:Propionic_acidemia
dbr
:Pseudoxanthoma_elasticum
dbr
:Pyruvate_carboxylase_deficiency
dbr
:Ruijs-Aalfs_syndrome
dbr
:Sandhoff_disease
dbr
:Sanfilippo_syndrome
dbr
:Neuronal_ceroid_lipofuscinosis
dbr
:Nijmegen_breakage_syndrome
dbr
:MORM_syndrome
dbr
:MPI-CDG
dbr
:MUTYH-associated_polyposis
dbr
:Meleda_disease
dbr
:Metachromatic_leukodystrophy
dbr
:Nephronophthisis
dbr
:Persistent_Müllerian_duct_syndrome
dbr
:Omenn_syndrome
dbr
:Pascual-Castroviejo_syndrome_type_1
dbr
:Wolcott–Rallison_syndrome
dbr
:Prolidase_deficiency
dbr
:Sarcosinemia
dbr
:Bare_lymphocyte_syndrome
dbr
:Biotinidase_deficiency
dbr
:Alkaptonuria
dbr
:Apparent_mineralocorticoid_excess_syndrome
dbr
:Arginine:glycine_amidinotransferase_deficiency
dbr
:Homocystinuria
dbr
:Beta-ketothiolase_deficiency
dbr
:Beta-mannosidosis
dbr
:Cystathioninuria
dbr
:Cystic_fibrosis
dbr
:Cystinuria
dbr
:D-glycerate_dehydrogenase_deficiency
dbr
:DOOR_syndrome
dbr
:Usher_syndrome
dbr
:De_Barsy_syndrome
dbr
:Dermatoosteolysis,_Kirghizian_type
dbr
:Donohue_syndrome
dbr
:Dopamine_beta_hydroxylase_deficiency
dbr
:EEM_syndrome
dbr
:Infantile_Refsum_disease
dbr
:Infantile_cerebellar_retinal_degeneration
dbr
:Infantile_cerebral_and_cerebellar_atro...th_postnatal_progressive_microcephaly
dbr
:Infantile_neuroaxonal_dystrophy
dbr
:Jalili_syndrome
dbr
:Johanson–Blizzard_syndrome
dbr
:Lethal_congenital_contracture_syndrome
dbr
:Letterer–Siwe_disease
dbr
:Leukocyte_adhesion_deficiency
dbr
:Leukocyte_adhesion_deficiency-1
dbr
:Leydig_cell_hypoplasia
dbr
:Pendred_syndrome
dbr
:Posterior_column_ataxia-retinitis_pigmentosa_syndrome
dbr
:Pseudodominance
dbr
:Pterin-4_alpha-carbinolamine_dehydratase_deficiency
dbr
:North_American_Indian_childhood_cirrhosis
dbr
:Roberts_syndrome
dbr
:Wrinkly_skin_syndrome
dbr
:Ellis–Van_Creveld_syndrome
dbr
:Essential_fructosuria
dbr
:Generalized_arterial_calcification_of_infancy
dbr
:Mietens_syndrome
dbr
:Woodhouse–Sakati_syndrome
dbr
:Vici_syndrome
dbr
:Oculocutaneous_albinism_type_I
dbr
:Pyknoachondrogenesis
dbr
:RAPADILINO_syndrome
dbr
:17β-Hydroxysteroid_dehydrogenase_III_deficiency
dbr
:Citrullinemia
dbr
:Cockayne_syndrome
dbr
:Enamel-renal_syndrome
dbr
:Endocardial_fibroelastosis
dbr
:GM1_gangliosidoses
dbr
:GM2_gangliosidoses
dbr
:Galactose_epimerase_deficiency
dbr
:Gastroschisis
dbr
:Gaucher's_disease
dbr
:Gillespie_syndrome
dbr
:Glanzmann's_thrombasthenia
dbr
:Glycogen_storage_disease_type_I
dbr
:Glycogen_storage_disease_type_II
dbr
:Glycogen_storage_disease_type_III
dbr
:Boucher-Neuhäuser_syndrome
dbr
:Mitochondrial_DNA_depletion_syndrome
dbr
:Morquio_syndrome
dbr
:NGLY1_deficiency
dbr
:Congenital_adrenal_hyperplasia
dbr
:Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency
dbr
:Congenital_adrenal_hyperplasia_due_to_17α-hydroxylase_deficiency
dbr
:Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency
dbr
:Congenital_adrenal_hyperplasia_due_to_3β-hydroxysteroid_dehydrogenase_deficiency
dbr
:Congenital_disorder_of_glycosylation_type_IIc
dbr
:Congenital_hepatic_fibrosis
dbr
:Congenital_hypofibrinogenemia
dbr
:Congenital_ichthyosiform_erythroderma
dbr
:Congenital_insensitivity_to_pain_with_anhidrosis
dbr
:Corneal-cerebellar_syndrome
dbr
:Corneal_dystrophy-perceptive_deafness_syndrome
dbr
:Thiamine_responsive_megaloblastic_anemia_syndrome
dbr
:LPS-responsive_beige-like_anchor_protein_deficiency
dbr
:Lafora_disease
dbr
:Ornithine_aminotransferase_deficiency
dbr
:Ornithine_translocase_deficiency
dbr
:Otofaciocervical_syndrome
dbr
:Otospondylomegaepiphyseal_dysplasia
dbr
:Antley–Bixler_syndrome
dbr
:Batten_disease
dbr
:Berdon_syndrome
dbr
:Bernard–Soulier_syndrome
dbr
:Lecithin_cholesterol_acyltransferase_deficiency
dbr
:Calpainopathy
dbr
:Chondrodystrophy
dbr
:Chorea-acanthocytosis
dbr
:Sickle_cell_disease
dbr
:Smith–Lemli–Opitz_syndrome
dbr
:Combarros-Calleja-Leno_syndrome
dbr
:Compound_heterozygosity
dbr
:Fatty-acid_metabolism_disorder
dbr
:Fraser_syndrome
dbr
:Friedreich's_ataxia
dbr
:Fucosidosis
dbr
:Fumarase_deficiency
dbr
:Hall-Riggs_syndrome
dbr
:Hamanishi_Ueba_Tsuji_syndrome
dbr
:Harding_ataxia
dbr
:Keutel_syndrome
dbr
:Kufor–Rakeb_syndrome
dbr
:Papillon–Lefèvre_syndrome
dbr
:Mahvash_disease
dbr
:Sugarman_syndrome
dbr
:Meckel–Gruber_syndrome
dbr
:Microspherophakia
dbr
:Microvillous_inclusion_disease
dbr
:Ochronosis
dbr
:Trimethylaminuria
dbr
:2-Hydroxyglutaric_aciduria
dbr
:6-Pyruvoyltetrahydropterin_synthase_deficiency
dbr
:CANDLE_syndrome
dbr
:Acute_fatty_liver_of_pregnancy
dbr
:Acyl-CoA_oxidase_deficiency
dbr
:Adducted_thumb_syndrome
dbr
:Adenine_phosphoribosyltransferase_deficiency
dbr
:Adenosine_deaminase_2_deficiency
dbr
:Adenosine_deaminase_deficiency
dbr
:Adenylosuccinate_lyase_deficiency
dbr
:Trichothiodystrophy
dbr
:Tyrosinemia
dbr
:Tyrosinemia_type_II
dbr
:Wilson's_disease
dbr
:Distal_spinal_muscular_atrophy_type_1
dbr
:Dubin–Johnson_syndrome
dbr
:Dubowitz_syndrome
dbr
:GAPO_syndrome
dbr
:GM2-gangliosidosis,_AB_variant
dbr
:Galactokinase_deficiency
dbr
:Galactose-1-phosphate_uridylyltransferase_deficiency
dbr
:Galactosialidosis
dbr
:Galloway_Mowat_syndrome
dbr
:Gangliosidosis
dbr
:Gitelman_syndrome
dbr
:H_syndrome
dbr
:Hartnup_disease
dbr
:Heimler_syndrome
dbr
:Jervell_and_Lange-Nielsen_syndrome
dbr
:Juvenile_primary_lateral_sclerosis
dbr
:Lamellar_ichthyosis
dbr
:Late_onset_congenital_adrenal_hyperplasia
dbr
:Laurence–Moon_syndrome
dbr
:Lipoid_congenital_adrenal_hyperplasia
dbr
:Long-chain_3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency
dbr
:Urofacial_syndrome
dbr
:Sabinas_brittle_hair_syndrome
dbr
:3-Methylcrotonyl-CoA_carboxylase_deficiency
dbr
:Acatalasia
dbr
:Acrocallosal_syndrome
dbr
:Al-Raqad_syndrome
dbr
:Albinism_in_humans
dbr
:Aminoacylase_1_deficiency
dbr
:3C_syndrome
dbr
:Cystinosis
dbr
:EAST_syndrome
dbr
:Alpha-aminoadipic_and_alpha-ketoadipic_aciduria
dbr
:Alpha-mannosidosis
dbr
:Alwadei_syndrome
dbr
:Familial_Mediterranean_fever
dbr
:Familial_isolated_vitamin_E_deficiency
dbr
:Fanconi_anemia
dbr
:Baller–Gerold_syndrome
dbr
:Bare_lymphocyte_syndrome_type_II
dbr
:Niemann–Pick_disease
dbr
:Niemann–Pick_disease,_SMPD1-associated
dbr
:Niemann–Pick_disease,_type_C
dbr
:Osteoporosis-pseudoglioma_syndrome
dbr
:Carbamoyl_phosphate_synthetase_I_deficiency
dbr
:Carey_Fineman_Ziter_syndrome
dbr
:Cenani–Lenz_syndactylism
dbr
:Chronic_progressive_external_ophthalmoplegia
dbr
:Chédiak–Higashi_syndrome
dbr
:Diastrophic_dysplasia
dbr
:Dicarboxylic_aminoaciduria
dbr
:Dihydropyrimidine_dehydrogenase_deficiency
dbr
:Dilated_cardiomyopathy_with_ataxia_syndrome
dbr
:Familial_dysautonomia
dbr
:Familial_nasal_acilia
dbr
:Farber_disease
dbr
:Follicle-stimulating_hormone_insensitivity
dbr
:Fountain_syndrome
dbr
:Gerodermia_osteodysplastica
dbr
:Glucose-galactose_malabsorption
dbr
:Glutaric_acidemia_type_2
dbr
:Glutaric_aciduria_type_1
dbr
:Glutathione_synthetase_deficiency
dbr
:Glycine_encephalopathy
dbr
:Glycogen_storage_disease_type_V
dbr
:Goldmann-Favre_syndrome
dbr
:Gonadotropin-releasing_hormone_insensitivity
dbr
:Histidinemia
dbr
:Isobutyryl-coenzyme_A_dehydrogenase_deficiency
dbr
:Isolated_17,20-lyase_deficiency
dbr
:Isovaleric_acidemia
dbr
:Juberg-Hayward_syndrome
dbr
:Kapur–Toriello_syndrome
dbr
:Kaufman_oculocerebrofacial_syndrome
dbr
:Kohlschütter-Tönz_syndrome
dbr
:Restrictive_dermopathy
dbr
:Lucey–Driscoll_syndrome
dbr
:Rabson–Mendenhall_syndrome
dbr
:Refsum_disease
dbr
:2-Methylbutyryl-CoA_dehydrogenase_deficiency
dbr
:Griscelli_syndrome
dbr
:Guanidinoacetate_methyltransferase_deficiency
dbr
:Harlequin-type_ichthyosis
dbr
:Hemophagocytic_lymphohistiocytosis
dbr
:Hermansky–Pudlak_syndrome
dbr
:Atelosteogenesis,_type_II
dbr
:Atransferrinemia
dbr
:Jansky–Bielschowsky_disease
dbr
:Tangier_disease
dbr
:Tay–Sachs_disease
dbr
:Cousin–Walbraum–Cegarra_syndrome
dbr
:Cranio-lenticulo-sutural_dysplasia
dbr
:Craniodiaphyseal_dysplasia
dbr
:Thalassemia
dbr
:Hurler_syndrome
dbr
:Hyperlysinemia
dbr
:Hypermethioninemia
dbr
:Hyperprolinemia
dbr
:Hypertryptophanemia
dbr
:Hypervalinemia
dbr
:Hypomagnesemia_with_secondary_hypocalcemia
dbr
:Marden–Walker_syndrome
dbr
:Young–Madders_syndrome
dbr
:Purine_nucleoside_phosphorylase_deficiency
dbr
:Very_long-chain_acyl-coenzyme_A_dehydrogenase_deficiency
dbr
:Argininemia
dbr
:Argininosuccinic_aciduria
dbr
:ALG1-CDG
dbr
:Abdallat–Davis–Farrage_syndrome
dbr
:Abderhalden–Kaufmann–Lignac_syndrome
dbr
:Abetalipoproteinemia
dbr
:Absent_tibia-polydactyly-arachnoid_cyst_syndrome
dbr
:Acanthosis_nigricans-muscle_cramps-acral_enlargement_syndrome
dbr
:Aceruloplasminemia
dbr
:Acheiropodia
dbr
:Acrodermatitis_enteropathica
dbr
:Aldolase_A_deficiency
dbr
:Kindler_syndrome
dbr
:Laron_syndrome
dbr
:Bietti's_crystalline_dystrophy
dbr
:Bloom_syndrome
dbr
:Blue_diaper_syndrome
dbr
:TRIANGLE_disease
dbr
:Hereditary_folate_malabsorption
dbr
:Hereditary_pyropoikilocytosis
dbr
:Holocarboxylase_synthetase_deficiency
dbr
:Zellweger_spectrum_disorders
dbr
:Mismatch_repair_cancer_syndrome
dbr
:Mitochondrial_complex_II_deficiency
dbr
:Mitochondrial_neurogastrointestinal_encephalopathy_syndrome
dbr
:Reardon-Hall-Slaney_syndrome
dbr
:Triple-A_syndrome
dbr
:Salt_and_pepper_syndrome
dbr
:Arterial_calcification_due_to_CD73_deficiency
dbr
:Arterial_tortuosity_syndrome
dbr
:Aspartylglucosaminuria
dbr
:Autosomal_recessive_GTP_cyclohydrolase_I_deficiency
dbr
:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia
dbr
:Autosomal_recessive_multiple_epiphyseal_dysplasia
dbr
:Maple_syrup_urine_disease
dbr
:CAMFAK_syndrome
dbr
:CHIME_syndrome
dbr
:Phenylketonuria
dbr
:Pipecolic_acidemia
dbr
:Spinal_muscular_atrophy
dbr
:Spondylo-ocular_syndrome
is
skos:
broader
of
dbc
:Sickle-cell_disease
dbc
:Spinal_muscular_atrophy
dbc
:Inborn_errors_of_metabolism
dbc
:Cystic_fibrosis
dbc
:Tay–Sachs_disease
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