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About:
Medical genetics
An Entity of Type:
medical specialty
,
from Named Graph:
http://dbpedia.org
,
within Data Space:
dbpedia.org
Medical specialty that involves the diagnosis and management of hereditary disorders
Property
Value
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description
의학의 하위 분야
(ko)
spécialité médicale
(fr)
specializzazione medica
(it)
medicinsk fagområde
(da)
medicinsk specialitet
(sv)
Kalıtsal hastalıklara odaklanan tıp dalı
(tr)
Teilgebiet der Genetik mit Bezug auf die Medizin
(de)
İrsi xəstəliklərin müayinəsi və necə idarə olunmasını özündə birləşdirən tibb sahəsi
(az)
especialitat mèdica que implica el diagnòstic i maneig de trastorns hereditaris
(ca)
estudio y tratamiento de padecimientos genéticos
(es)
medical specialty that involves the diagnosis and management of hereditary disorders
(en)
medicinska specijalnost koja uključuje dijagnozu i tretman nasljednih poremećaja
(bs)
розділ медицини та генетики
(uk)
תחום ברפואה שעוסק באבחון ובטיפול במחלות ובבעיות תורשתיות
(iw)
pengkhususan perubatan yang melibatkan diagnosis dan pengurusan gangguan keturunan
(ms)
medisinsk spesialområde; grein av medisinen som arbeider med diagnostikk og behandling av arvelege (genetiske) sjukdommar
(nn)
Генетика, медицинска специјалност
(sr)
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Медицинская генетика
(ru)
Medical genetics
(en)
Lékařská genetika
(cs)
Ιατρική γενετική
(el)
علم الوراثة الطبية
(ar)
Medicina genetiko
(eo)
Genética médica
(es)
Génétique médicale
(fr)
Genetica clinica
(it)
Genetika kedokteran
(in)
遺伝医学
(ja)
의학유전학
(ko)
Genetyka kliniczna
(pl)
Genética médica
(pt)
Klinisk genetik
(sv)
Медична генетика
(uk)
醫學遺傳學
(zh)
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:Schneckenbecken_dysplasia
dbr
:Sponastrime_dysplasia
dbr
:Salt_and_pepper_syndrome
dbr
:Dan_Roden
dbr
:Dilated_cardiomyopathy_with_ataxia_syndrome
dbr
:Healthcare_in_Portugal
dbr
:MECP2_duplication_syndrome
dbr
:Arginine:glycine_amidinotransferase_deficiency
dbr
:Autosomal_dominant_leukodystrophy_with_autonomic_disease
dbr
:Hypomyelination-congenital_cataract_syndrome
dbr
:Lubani_Al_Saleh_Teebi_syndrome
dbr
:Jan_Bruell
dbr
:European_Journal_of_Medical_Genetics
dbr
:Joseph_M._Sanzari_Children's_Hospital
dbr
:Andrey_Rzhetsky
dbr
:African_Society_of_Human_Genetics
dbr
:Ambroise_Wonkam
dbr
:Familial_natural_short_sleep
dbr
:Nan_Hu
dbr
:Herman_Vanden_Berghe
dbr
:Neural_tube_defect
dbr
:Immunogenetics
dbr
:Pallister–Killian_syndrome
dbr
:Widukind_Lenz
dbr
:Klinefelter_syndrome
dbr
:Marfan_syndrome
dbr
:Progeria
dbr
:Blepharophimosis
dbr
:Acute_intermittent_porphyria
dbr
:Tetrasomy_18p
dbr
:Coxa_vara
dbr
:Cubitus_varus
dbr
:Genetic_counseling
dbr
:Hypospadias
dbr
:MUTYH-associated_polyposis
dbr
:Ectopia_cordis
dbr
:Epstein_syndrome
dbr
:Tuberous_sclerosis
dbr
:3-Hydroxyisobutyryl-CoA_deacylase_deficiency
dbr
:Achondrogenesis
dbr
:Essential_fructosuria
dbr
:Polysplenia
dbr
:Ahmad_Teebi
dbr
:Montreal_Children's_Hospital
dbr
:Genetic_Epidemiology_(journal)
dbr
:Murray_Feingold
dbr
:Achondrogenesis_type_1B
dbr
:Achondrogenesis_type_2
dbr
:Marek_Sanak
dbr
:Acrocraniofacial_dysostosis
dbr
:Madge_Macklin
dbr
:Ankylosing_vertebral_hyperostosis_with_tylosis
dbr
:Hereditary_neurocutaneous_angioma
dbr
:Hypohidrotic_ectodermal_dysplasia_with_immune_deficiency
dbr
:Mary_L._McMaster
dbr
:Cri_du_chat_syndrome
dbr
:Osteogenesis_imperfecta
dbr
:Pes_cavus
dbr
:American_College_of_Medical_Genetics_and_Genomics
dbr
:David_Rimoin
dbr
:Microstomia
dbr
:Otocephaly
dbr
:Philip_Awadalla
dbr
:Carey_Fineman_Ziter_syndrome
dbr
:Norio_Niikawa
dbr
:Spondyloepimetaphyseal_dysplasia,_Pakistani_type
dbr
:Peter_Riederer
dbr
:Al_Gazali_Sabrinathan_Nair_syndrome
dbr
:Muscular_atrophy-ataxia-retinitis_pigmentosa-diabetes_mellitus_syndrome
dbr
:Marsili_syndrome
dbr
:Multicentric_carpotarsal_osteolysis_syndrome
dbr
:Triploid_syndrome
dbr
:Giuseppe_Merla
dbr
:MPI-CDG
dbr
:Branched-chain_keto_acid_dehydrogenase_kinase_deficiency
dbr
:Ludmila_Prokunina-Olsson
dbr
:Alisa_M._Goldstein
dbr
:Kåre_Berg
dbr
:Human_genetics
dbr
:Patau_syndrome
dbr
:Dwarfism
dbr
:Phenylketonuria
dbr
:Webbed_neck
dbr
:Cat_genetics
dbr
:Charles_Epstein_(geneticist)
dbr
:R._Ellen_Magenis
dbr
:Limb–mammary_syndrome
dbr
:Corneal_dystrophy-perceptive_deafness_syndrome
dbr
:Generalized_arterial_calcification_of_infancy
dbr
:Macrostomia
dbr
:Toriello–Carey_syndrome
dbr
:Brachial_amelia,_cleft_lip,_and_holoprosencephaly
dbr
:Ethylmalonic_encephalopathy
dbr
:Hyperglycerolemia
dbr
:PASLI_disease
dbr
:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia
dbr
:Salvator_Cupcea
dbr
:Pai_syndrome
dbr
:Pierre_Roubertoux
dbr
:Atelosteogenesis_type_I
dbr
:Autosomal_recessive_isolated_ectopia_lentis
dbr
:Bainbridge–Ropers_syndrome
dbr
:Camptodactyly,_tall_stature,_and_hearing_loss_syndrome
dbr
:Immunodeficiency_26
is
dbp:
caption
of
dbr
:Faciocardiorenal_syndrome
is
dbp:
causes
of
dbr
:Histidinuria_renal_tubular_defect_syndrome
is
dbp:
discipline
of
dbr
:Cell_Journal
dbr
:Journal_of_Medical_Genetics
dbr
:Genetics_in_Medicine
dbr
:Genome_Medicine
dbr
:European_Journal_of_Medical_Genetics
dbr
:Ambroise_Wonkam
dbr
:Genetic_Epidemiology_(journal)
dbr
:Genes_&_Diseases
is
dbp:
field
of
dbr
:Menkes_disease
dbr
:Poland_syndrome
dbr
:XYY_syndrome
dbr
:Aicardi_syndrome
dbr
:Maple_syrup_urine_disease
dbr
:XY_gonadal_dysgenesis
dbr
:Hypermobility_(joints)
dbr
:Diastrophic_dysplasia
dbr
:Hydrops-ectopic_calcification-moth-eaten_skeletal_dysplasia
dbr
:Chromosome_15q_partial_deletion
dbr
:Corneodermatoosseous_syndrome
dbr
:Craniopagus_twins
dbr
:Katz_syndrome
dbr
:Jaffe–Campanacci_syndrome
dbr
:Rocker_bottom_foot
dbr
:Michael_R._Hayden
dbr
:Cortisone_reductase_deficiency
dbr
:Creatine_transporter_defect
dbr
:Myhre_syndrome
dbr
:MonoMAC
dbr
:Aneuploidy
dbr
:Angelman_syndrome
dbr
:Genetic_disorder
dbr
:Channelopathy
dbr
:Single_transverse_palmar_crease
dbr
:Triphalangeal_thumb
dbr
:Iron_metabolism_disorder
dbr
:Tricho–dento–osseous_syndrome
dbr
:Menke-Hennekam_syndrome
dbr
:DiGeorge_syndrome
dbr
:Hirschsprung's_disease
dbr
:VACTERL_association
dbr
:Anodontia
dbr
:Cleidocranial_dysostosis
dbr
:Crouzon_syndrome
dbr
:Hereditary_hemorrhagic_telangiectasia
dbr
:Mandibuloacral_dysplasia
dbr
:Gastroschisis
dbr
:Holoprosencephaly
dbr
:Situs_inversus
dbr
:Vaginal_hypoplasia
dbr
:Hereditary_folate_malabsorption
dbr
:Polysyndactyly
dbr
:Thiamine_responsive_megaloblastic_anemia_syndrome
dbr
:Foot_deformity
dbr
:Oculocerebrocutaneous_syndrome
dbr
:Oliver–McFarlane_syndrome
dbr
:Michels_syndrome
dbr
:Wilson–Turner_syndrome
dbr
:X-linked_recessive_chondrodysplasia_punctata
dbr
:LAMA2_related_congenital_muscular_dystrophy
dbr
:Citrin_deficiency
dbr
:Fetal_valproate_spectrum_disorder
dbr
:Cystic_fibrosis
dbr
:Webbed_toes
dbr
:Dopamine-responsive_dystonia
dbr
:Bifid_rib
dbr
:Niemann–Pick_disease
dbr
:Trisomy_22
dbr
:Noonan_syndrome_with_multiple_lentigines
dbr
:Laminopathy
dbr
:3-Methylglutaconic_aciduria
dbr
:Brachydactyly_type_D
dbr
:Coarse_facial_features
dbr
:Congenital_distal_spinal_muscular_atrophy
dbr
:Hypochondrogenesis
dbr
:Hypotrichosis–lymphedema–telangiectasia_syndrome
dbr
:Jumping_Frenchmen_of_Maine
dbr
:Sialuria
dbr
:John_Christodoulou_(geneticist)
dbr
:Sickle_cell_disease
dbr
:Thyroglossal_cyst
dbr
:Choanal_atresia
dbr
:Genodermatosis
dbr
:Polymelia
dbr
:Tetrasomy
dbr
:Weill–Marchesani_syndrome
dbr
:Cystathioninuria
dbr
:D-bifunctional_protein_deficiency
dbr
:Proteus-like_syndrome
dbr
:Proximal_18q-
dbr
:Pseudo-Hurler_polydystrophy
dbr
:Lelis_syndrome
dbr
:Lenz–Majewski_syndrome
dbr
:Ligamentous_laxity
dbr
:Lysosomal_acid_lipase_deficiency
dbr
:Hemochromatosis_type_4
dbr
:Acrania
dbr
:Birth_defect
dbr
:Brachycephaly
dbr
:Down_syndrome
dbr
:2q37_monosomy
dbr
:Cherubism
dbr
:Microcephaly
dbr
:Noonan_syndrome
dbr
:Seckel_syndrome
dbr
:Tay–Sachs_disease
dbr
:Williams_syndrome
dbr
:Thalassemia
dbr
:Fragile_X_syndrome
dbr
:Treacher_Collins_syndrome
dbr
:Adrenoleukodystrophy
dbr
:Mitochondrial_disease
dbr
:Micrognathism
dbr
:Trisomy_18
dbr
:Campomelic_dysplasia
dbr
:Familial_hypocalciuric_hypercalcemia
dbr
:Fibrodysplasia_ossificans_progressiva
dbr
:Fibular_hemimelia
dbr
:Glutaric_acidemia_type_2
dbr
:Acrocephalosyndactyly
dbr
:Clinodactyly
dbr
:Levo-Transposition_of_the_great_arteries
dbr
:Trigonocephaly
dbr
:Apolipoprotein_B_deficiency
dbr
:DeSanctis–Cacchione_syndrome
dbr
:Elejalde_syndrome
dbr
:Facies_(medical)
dbr
:Familial_atrial_fibrillation
dbr
:Familial_progressive_hyperpigmentation
dbr
:N-Acetylglutamate_synthase_deficiency
dbr
:Acyl-CoA_oxidase_deficiency
dbr
:Birk-Barel_syndrome
dbr
:Sponastrime_dysplasia
dbr
:MECP2_duplication_syndrome
dbr
:Arginine:glycine_amidinotransferase_deficiency
dbr
:Neural_tube_defect
dbr
:Pallister–Killian_syndrome
dbr
:Ehlers–Danlos_syndrome
dbr
:Klinefelter_syndrome
dbr
:Marfan_syndrome
dbr
:Progeria
dbr
:Blepharophimosis
dbr
:Acute_intermittent_porphyria
dbr
:Tetrasomy_18p
dbr
:Coxa_vara
dbr
:Cubitus_varus
dbr
:Hypospadias
dbr
:MUTYH-associated_polyposis
dbr
:Ectopia_cordis
dbr
:Keratitis–ichthyosis–deafness_syndrome
dbr
:Tuberous_sclerosis
dbr
:3-Hydroxyisobutyryl-CoA_deacylase_deficiency
dbr
:Achondrogenesis
dbr
:Essential_fructosuria
dbr
:Polysplenia
dbr
:Achondrogenesis_type_1B
dbr
:Achondrogenesis_type_2
dbr
:Australasian_Association_of_Clinical_Geneticists
dbr
:Cri_du_chat_syndrome
dbr
:Osteogenesis_imperfecta
dbr
:Pes_cavus
dbr
:Microstomia
dbr
:Otocephaly
dbr
:Carey_Fineman_Ziter_syndrome
dbr
:Spondyloepimetaphyseal_dysplasia,_Pakistani_type
dbr
:Multicentric_carpotarsal_osteolysis_syndrome
dbr
:Triploid_syndrome
dbr
:MPI-CDG
dbr
:Elaine_Bearer
dbr
:Branched-chain_keto_acid_dehydrogenase_kinase_deficiency
dbr
:Patau_syndrome
dbr
:Dwarfism
dbr
:Phenylketonuria
dbr
:Webbed_neck
dbr
:Charles_Epstein_(geneticist)
dbr
:Limb–mammary_syndrome
dbr
:Acro–dermato–ungual–lacrimal–tooth_syndrome
dbr
:Generalized_arterial_calcification_of_infancy
dbr
:Macrostomia
dbr
:Diploid-triploid_mosaicism
dbr
:Ethylmalonic_encephalopathy
dbr
:Hyperglycerolemia
dbr
:PASLI_disease
dbr
:Atelosteogenesis_type_I
dbr
:Bainbridge–Ropers_syndrome
dbr
:Immunodeficiency_26
dbr
:Cryptophthalmos
dbr
:Duchenne_muscular_dystrophy
dbr
:Myotonic_dystrophy
dbr
:Turner_syndrome
dbr
:Achondroplasia
dbr
:Focal_cortical_dysplasia
dbr
:Plagiocephaly
dbr
:Peroxisomal_disorder
dbr
:Carbamoyl_phosphate_synthetase_I_deficiency
dbr
:David_Sillence
dbr
:Erythrokeratodermia_with_ataxia
dbr
:Guanidinoacetate_methyltransferase_deficiency
dbr
:Primordial_dwarfism
dbr
:Alpha-1_antitrypsin_deficiency
dbr
:Camptodactyly
dbr
:Xeroderma_pigmentosum
dbr
:Arthrogryposis
dbr
:Citrullinemia
dbr
:Glucose-6-phosphate_dehydrogenase_deficiency
dbr
:Trisomy
dbr
:Oligodactyly
dbr
:Retrognathism
dbr
:Glycogen_storage_disease_type_0
dbr
:Perlman_syndrome
dbr
:Persistent_cloaca
dbr
:Langer_mesomelic_dysplasia
dbr
:Cerebral_creatine_deficiency
dbr
:Immunodeficiency_with_hyperimmunoglobulin_M
dbr
:Johnson–McMillin_syndrome
dbr
:Heart-hand_syndromes
dbr
:Hyperprolinemia
dbr
:Cole–Carpenter_syndrome
dbr
:Haploinsufficiency_of_A20
dbr
:Lamb-Shaffer_syndrome
dbr
:Malan_syndrome
dbr
:Polymerase_proofreading-associated_polyposis
dbr
:Ruijs-Aalfs_syndrome
dbr
:STING-associated_vasculopathy_with_onset_in_infancy
dbr
:Aceruloplasminemia
dbr
:Alan_Edward_Guttmacher
dbr
:Congenital_vertebral_anomaly
dbr
:Adult_polyglucosan_body_disease
dbr
:Sphingolipidoses
dbr
:Supernumerary_nipple
dbr
:Renal_glycosuria
dbr
:Uniparental_disomy
dbr
:William_S._Sly
dbr
:I-cell_disease
dbr
:Congenital_trigger_thumb
dbr
:Pierre_Robin_sequence
dbr
:Monosomy
dbr
:Brunner_syndrome
dbr
:Disorders_of_sex_development
dbr
:Distal_trisomy_10q
dbr
:Dolichol_kinase_deficiency
dbr
:18p-
dbr
:Inborn_errors_of_carbohydrate_metabolism
dbr
:Keratosis_follicularis_spinulosa_decalvans
dbr
:Amelia_(birth_defect)
dbr
:Adenosine_deaminase_2_deficiency
dbr
:Hitchhiker's_thumb
dbr
:NGLY1_deficiency
dbr
:Cyclopia
dbr
:Pitt–Hopkins_syndrome
dbr
:Macrotia
dbr
:Molybdenum_cofactor_deficiency
dbr
:Tatton-Brown–Rahman_syndrome
dbr
:SRD5A3-CDG
dbr
:Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy
dbr
:ALG1-CDG
dbr
:SYT1-associated_neurodevelopmental_disorder
is
dbp:
fields
of
dbr
:Connie_Eaves
dbr
:Margaret_Pericak-Vance
dbr
:Lon_Cardon
dbr
:Louis_J._Muglia
dbr
:Naomichi_Matsumoto
dbr
:Sérgio_Pena_(geneticist)
dbr
:Nagima_Aitkhozhina
dbr
:Dan_Roden
dbr
:Jan_Bruell
dbr
:Andrey_Rzhetsky
dbr
:Mohammed_Al-Raqad
dbr
:Patricia_Baird
dbr
:Norio_Niikawa
dbr
:Richard_Houlston
dbr
:Michael_T._Gabbett
dbr
:Diana_Bianchi
dbr
:Norma_Ford_Walker
dbr
:Andrew_Wilkie_(geneticist)
is
dbp:
knownFor
of
dbr
:Frederick_Bieber
dbr
:Natalia_Gomez-Ospina
dbr
:Teri_Manolio
dbr
:Vladimir_Efroimson
is
dbp:
occupation
of
dbr
:Andrew_Read
dbr
:Meena_Upadhyaya
dbr
:Clarke_Fraser
dbr
:Murray_Feingold
dbr
:Gareth_Evans_(geneticist)
dbr
:Jane_Green_(geneticist)
dbr
:Marcus_Pembrey
dbr
:David_M._Danks
is
dbp:
specialism
of
dbr
:Dorothy_Trump
dbr
:Ahmad_Teebi
is
dbp:
specialty
of
dbr
:10q26_deletion
dbr
:16p11.2_duplication_syndrome
dbr
:Van_De_Berghe_Dequeker_syndrome
dbr
:Lujan–Fryns_syndrome
dbr
:Symbrachydactyly
dbr
:Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis
dbr
:Skraban–Deardorff_syndrome
dbr
:Anencephaly
dbr
:Congenital_fiber_type_disproportion
dbr
:Gustavson_syndrome
dbr
:Sonoda_syndrome
dbr
:Split_hand_split_foot-nystagmus_syndrome
dbr
:Alagille_syndrome
dbr
:Microphthalmia–dermal_aplasia–sclerocornea_syndrome
dbr
:Mosaic_loss_of_chromosome_Y
dbr
:Pulmonary_atresia_with_ventricular_septal_defect
dbr
:SMPD1-associated_Niemann–Pick_disease
dbr
:Glycogen_storage_disease
dbr
:Small_supernumerary_marker_chromosome
dbr
:Rapp–Hodgkin_syndrome
dbr
:Bifid_nose
dbr
:Autosomal_recessive_bestrophinopathy
dbr
:Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome
dbr
:Laron_syndrome
dbr
:Du_Pan_syndrome
dbr
:Intellectual_disability-spasticity-ectrodactyly_syndrome
dbr
:High-arched_palate
dbr
:Polydactyly
dbr
:Autoimmune_polyendocrine_syndrome_type_1
dbr
:Jansky–Bielschowsky_disease
dbr
:Nakajo_syndrome
dbr
:Hypermethioninemia
dbr
:Thickened_earlobes-conductive_deafness_syndrome
dbr
:Athabaskan_brainstem_dysgenesis_syndrome
dbr
:Schneckenbecken_dysplasia
dbr
:Salt_and_pepper_syndrome
dbr
:Dilated_cardiomyopathy_with_ataxia_syndrome
dbr
:Autosomal_dominant_leukodystrophy_with_autonomic_disease
dbr
:Hypomyelination-congenital_cataract_syndrome
dbr
:Lubani_Al_Saleh_Teebi_syndrome
dbr
:Mosaic_variegated_aneuploidy_syndrome
dbr
:3p_deletion_syndrome
dbr
:Familial_natural_short_sleep
dbr
:Agenesis
dbr
:Acrocraniofacial_dysostosis
dbr
:Congenital_athymia
dbr
:Ankylosing_vertebral_hyperostosis_with_tylosis
dbr
:Hereditary_neurocutaneous_angioma
dbr
:Hypohidrotic_ectodermal_dysplasia_with_immune_deficiency
dbr
:Beck–Fahrner_syndrome
dbr
:Ascher's_syndrome
dbr
:Al_Gazali_Sabrinathan_Nair_syndrome
dbr
:Muscular_atrophy-ataxia-retinitis_pigmentosa-diabetes_mellitus_syndrome
dbr
:Recurrent_metabolic_encephalomyopathic...hmia-intellectual_disability_syndrome
dbr
:Marsili_syndrome
dbr
:Goldmann–Favre_syndrome
dbr
:Chudley–Mccullough_syndrome
dbr
:Corneal_dystrophy-perceptive_deafness_syndrome
dbr
:Toriello–Carey_syndrome
dbr
:Brachial_amelia,_cleft_lip,_and_holoprosencephaly
dbr
:Autosomal_recessive_axonal_neuropathy_with_neuromyotonia
dbr
:Pai_syndrome
dbr
:ADNP_syndrome
dbr
:Autosomal_recessive_isolated_ectopia_lentis
dbr
:Camptodactyly,_tall_stature,_and_hearing_loss_syndrome
dbr
:Severe_intellectual_disability-progressive_spastic_diplegia_syndrome
dbr
:Absence_of_fingerprints-congenital_milia_syndrome
dbr
:Mandibulofacial_dysostosis-microcephaly_syndrome
dbr
:Reardon-Hall-Slaney_syndrome
dbr
:Brachydactyly-preaxial_hallux_varus_syndrome
dbr
:Osteoporosis-pseudoglioma_syndrome
dbr
:Proud_syndrome
dbr
:Waardenburg_anophthalmia_syndrome
dbr
:X-linked_cone-rod_dystrophy,_type_1
dbr
:Pseudoachondroplasia
dbr
:Familial_thoracic_aortic_aneurysm_and_aortic_dissection
dbr
:IVIC_syndrome
dbr
:Polyonychia
dbr
:Pelger–Huët_anomaly
dbr
:X-linked_sideroblastic_anemia_and_spinocerebellar_ataxia
dbr
:XXXXY_syndrome
dbr
:Familial_opposable_triphalangeal_thumbs_duplication
dbr
:Absence_deformity_of_leg-cataract_syndrome
dbr
:Absent_tibia-polydactyly-arachnoid_cyst_syndrome
dbr
:Acanthosis_nigricans-muscle_cramps-acral_enlargement_syndrome
dbr
:Acro-oto-radial_syndrome
dbr
:Adolescent_idiopathic_scoliosis
dbr
:Amaurosis_congenita,_cone-rod_type,_with_congenital_hypertrichosis
dbr
:Amish_lethal_microcephaly
dbr
:Aphalangy-syndactyly-microcephaly_syndrome
dbr
:Blepharophimosis-ptosis-esotropia-syndactyly-short_stature_syndrome
dbr
:Blepharophimosis_intellectual_disability_syndromes
dbr
:Boucher-Neuhäuser_syndrome
dbr
:Brachydactyly-long_thumb_syndrome
dbr
:CD55_deficiency
dbr
:Calvarial_doughnut_lesions-bone_fragility_syndrome
dbr
:Cataract-ataxia-deafness_syndrome
dbr
:Cochleosaccular_degeneration_with_progressive_cataracts
dbr
:Collins–Pope_syndrome
dbr
:Coloboma_of_macula-brachydactyly_type_B_syndrome
dbr
:Combarros–Calleja–Leno_syndrome
dbr
:Craniofacial_dysostosis-diaphyseal_hyperplasia_syndrome
dbr
:Craniosynostosis_and_dental_anomalies
dbr
:Curry–Jones_syndrome
dbr
:Cyprus_facial_neuromusculoskeletal_syndrome
dbr
:Czech_dysplasia,_metatarsal_type
dbr
:Dermatoosteolysis,_Kirghizian_type
dbr
:Distichiasis,_congenital_heart_defects_and_mixed_peripheral_vascular_anomalies
dbr
:Early-onset_parkinsonism-intellectual_disability_syndrome
dbr
:Familial_cutaneous_collagenoma
dbr
:Familial_dwarfism_and_painful_muscle_spasms
dbr
:Familial_episodic_pain_syndrome
dbr
:Familial_multiple_cafe-au-lait_spots
dbr
:Familial_nasal_acilia
dbr
:Feigenbaum-Bergeron-Richardson_syndrome
dbr
:Growth_delay-hydrocephaly-lung_hypoplasia_syndrome
dbr
:Hall-Riggs_syndrome
dbr
:Hamanishi_Ueba_Tsuji_syndrome
dbr
:Heart-hand_syndrome,_Slovenian_type
dbr
:Heart-hand_syndrome,_Spanish_type
dbr
:Hereditary_angiopathy_with_nephropathy,_aneurysms,_and_muscle_cramps_syndrome
dbr
:Infantile_cerebral_and_cerebellar_atro...th_postnatal_progressive_microcephaly
dbr
:Infantile_spasms-broad_thumbs_syndrome
dbr
:Iris_hypoplasia_with_glaucoma
dbr
:Isolated_hyperchlorhidrosis
dbr
:Keratosis_follicularis-dwarfism-cerebral_atrophy_syndrome
dbr
:Kirner's_deformity
dbr
:L1_syndrome
dbr
:Lowry-Wood_syndrome
dbr
:Lymphedema-posterior_choanal_atresia_syndrome
dbr
:McDonough_syndrome
dbr
:Microcephaly_deafness_syndrome
dbr
:Morse–Rawnsley–Sargent_syndrome
dbr
:Oculopharyngodistal_myopathy
dbr
:Odontoonychodermal_dysplasia
dbr
:Ostravik-Lindemann-Solberg_syndrome
dbr
:Otofaciocervical_syndrome
dbr
:Pierre_Robin_sequence-faciodigital_anomaly_syndrome
dbr
:Porencephaly-cerebellar_hypoplasia-internal_malformations_syndrome
dbr
:Progressive_bifocal_chorioretinal_atrophy
dbr
:Pyknoachondrogenesis
dbr
:Radio-renal_syndrome
dbr
:Rhizomelic_dysplasia,_scoliosis,_and_retinitis_pigmentosa
dbr
:SOFT_syndrome
dbr
:Santos–Mateus–Leal_syndrome
dbr
:Scalp_defects-postaxial_polydactyly_syndrome
dbr
:Short-limb_skeletal_dysplasia_with_severe_combined_immunodeficiency
dbr
:Skin_fragility-woolly_hair-palmoplantar_keratoderma_syndrome
dbr
:Spondylocamptodactyly
dbr
:Spondyloenchondrodysplasia
dbr
:Spondylometaphyseal_dysplasia_with_cone-rod_dystrophy
dbr
:St._Helena_familial_genu_valgum
dbr
:Stocco_dos_Santos_syndrome
dbr
:Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome
dbr
:Syndactyly-nystagmus_syndrome_due_to_2q31.1_microduplication
dbr
:Temple_syndrome
dbr
:Thoracic_dysplasia-hydrocephalus_syndrome
dbr
:Tibial_hemimelia-polysyndactyly-triphalangeal_thumb_syndrome
dbr
:Tranebjaerg–Svejgaard_syndrome
dbr
:Trigonocephaly-bifid_nose-acral_anomalies_syndrome
dbr
:Tucker_syndrome
dbr
:Ulna_hypoplasia-intellectual_disability_syndrome
dbr
:Ventricular_extrasystoles_with_syncopa...s-perodactyly-Robin_sequence_syndrome
dbr
:Wolfram-like_syndrome
dbr
:Wormian_bone-multiple_fractures-dentin...mperfecta-skeletal_dysplasia_syndrome
dbr
:X-linked_complicated_corpus_callosum_dysgenesis
dbr
:Y-linked_deafness,_type_1
dbr
:Craniosynostosis
dbr
:BRCA_mutation
dbr
:2,4_Dienoyl-CoA_reductase_deficiency
dbr
:3-Methylcrotonyl-CoA_carboxylase_deficiency
dbr
:Acalvaria
dbr
:Acrofrontofacionasal_dysostosis
dbr
:SLC35A1-CDG
dbr
:Anonychia-onychodystrophy_with_brachydactyly_type_B_and_ectrodactyly
dbr
:Metacarpal_synostosis
dbr
:PURA_syndrome
dbr
:Polymetatarsia
dbr
:Retinal_cone_dystrophy_3B
dbr
:Ulnar_dysplasia
dbr
:Camera–Marugo–Cohen_syndrome
dbr
:Autosomal_dominant_cerebellar_ataxia,_deafness,_and_narcolepsy
dbr
:X-linked_Charcot–Marie–Tooth_disease
dbr
:Chondrodysplasia,_Grebe_type
dbr
:McCusick_syndrome
dbr
:Leschke_syndrome
dbr
:Gollop-Wolfgang_complex
dbr
:Megalocornea-intellectual_disability_syndrome
dbr
:Ectrodactyly_with_tibia_aplasia/hypoplasia
dbr
:Autosomal_dominant_Charcot–Marie–Tooth_disease_type_2_with_giant_axons
dbr
:Osteopathia_striata_with_cranial_sclerosis
dbr
:Spastic_paraplegia_6
dbr
:Meromelia
dbr
:DAVID_syndrome
dbr
:Autosomal_dominant_intellectual_disabi...al_anomalies-cardiac_defects_syndrome
dbr
:CHAMP1-associated_intellectual_disability_syndrome
dbr
:GRIN2B-related_neurodevelopmental_disorder
dbr
:Angel-shaped_phalango-epiphyseal_dysplasia
dbr
:7p22.1_microduplication_syndrome
dbr
:Al-Gazali-Donnai-Mueller_syndrome
dbr
:Anophthalmia_megalocornea_cardiopathy_skeletal_anomalies_syndrome
dbr
:Aortic_arch_anomaly_-_peculiar_facies_-_intellectual_disability
dbr
:Aplasia_cutis-myopia_syndrome
dbr
:Autism_with_port-wine_stain_syndrome
dbr
:Axial_osteosclerosis
dbr
:Blepharoptosis-myopia-ectopia_lentis_syndrome
dbr
:Boudhina-Yedes-Khiari_syndrome
dbr
:Camptodactyly-taurinuria_syndrome
dbr
:Cleft_palate_short_stature_vertebral_anomalies_syndrome
dbr
:Congenital_muscular_dystrophy-infantile_cataract-hypogonadism_syndrome
dbr
:Cryptorchidism-arachnodactyly-intellectual_disability_syndrome
dbr
:Dauwerse–Peters_syndrome
dbr
:DeSanto-Shinawi_syndrome
dbr
:Deafness-vitiligo-achalasia_syndrome
dbr
:Dwarfism,_low-birth-weight_type_with_unresponsiveness_to_growth_hormone
dbr
:Ectrodactyly-polydactyly_syndrome
dbr
:Familial_osteodysplasia,_Anderson_type
dbr
:Familial_synovial_chondromatosis_with_dwarfism
dbr
:Fine–Lubinsky_syndrome
dbr
:Guizar–Vasquez–Sanchez–Manzano_syndrome
dbr
:Hair_defect-photosensitivity-intellectual_disability_syndrome
dbr
:Hirschsprung's_disease-type_D_brachydactyly_syndrome
dbr
:Histidinuria_renal_tubular_defect_syndrome
dbr
:Holoprosencephaly-ectrodactyly-cleft_lip/palate_syndrome
dbr
:Ichthyosis-intellectual_disability-dwarfism-renal_impairment
dbr
:Isolated_hyperCKemia
dbr
:Kagami-Ogata_syndrome
dbr
:Kozlowski-Krajewska_syndrome
dbr
:MacDermot–Winter_syndrome
dbr
:Meacham_syndrome
dbr
:Microcephalic_primordial_dwarfism,_Montreal_type
dbr
:Microcornea,_glaucoma,_and_absent_frontal_sinuses
dbr
:Mirror_polydactyly-vertebral_segmentation-limb_defects_syndrome
dbr
:Nestor-Guillermo_progeria_syndrome
dbr
:Olivopontocerebellar_atrophy-deafness_syndrome
dbr
:Palmoplantar_keratoderma_with_deafness
dbr
:Saito–Kuba–Tsuruta_syndrome
dbr
:Say-Field-Coldwell_syndrome
dbr
:Splenogonadal_fusion-limb_defects-micrognathia_syndrome
dbr
:Spondylometaphyseal_dysplasia,_East-African_type
dbr
:Tel_Hashomer_camptodactyly_syndrome
dbr
:Thai_symphalangism_syndrome
dbr
:Thumb_stiffness-brachydactyly-intellectual_disability_syndrome
dbr
:Triphalangeal_thumbs-brachyectrodactyly_syndrome
dbr
:Verloes_Van_Maldergem_Marneffe_syndrome
dbr
:Viljoen–Kallis–Voges_syndrome
dbr
:Weyer's_ulnar_ray/oligodactyly_syndrome
dbr
:GATAD2B-associated_neurodevelopmental_disorder
dbr
:PRICKLE1-related_progressive_myoclonus_epilepsy_with_ataxia
dbr
:Familial_benign_copper_deficiency
dbr
:Compton-North_congenital_myopathy
dbr
:Multiple_congenital_anomalies-hypotonia-seizures_syndrome
dbr
:Infantile_cerebellar_retinal_degeneration
dbr
:Cerebro-costo-mandibular_syndrome
dbr
:Aplasia_cutis_congenita-intestinal_lymphangiectasia_syndrome
dbr
:GOSR2-related_progressive_myoclonus_ataxia
dbr
:CAPOS_syndrome
dbr
:Autosomal_dominant_partial_epilepsy_with_auditory_features
dbr
:Cousin–Walbraum–Cegarra_syndrome
dbr
:Juvenile-onset_dystonia
dbr
:FBXW7_neurodevelopmental_syndrome
dbr
:GLYT1_encephalopathy
is
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of
dbr
:Giovanna_Viale
is
foaf:
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of
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:Medical_genetics
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