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词条 List of MeSH codes (C16)
释义

  1. {{MeshNumber|C16|Congenital,+Hereditary,+and+Neonatal+Diseases+and+Abnormalities}} --- congenital, hereditary, and neonatal diseases and abnormalities

     {{MeshNumber|C16.131|Abnormalities}} --- abnormalities  {{MeshNumber|C16.131.042|Abnormalities,+Drug-Induced}} --- abnormalities, drug-induced  {{MeshNumber|C16.131.077|Abnormalities,+Multiple}} --- abnormalities, multiple  {{MeshNumber|C16.131.080|Abnormalities,+Radiation-Induced}} --- abnormalities, radiation-induced  {{MeshNumber|C16.131.240|Cardiovascular+Abnormalities}} --- cardiovascular abnormalities  {{MeshNumber|C16.131.260|Chromosome+Disorders}} --- chromosome disorders  {{MeshNumber|C16.131.300|DiGeorge+Syndrome}} --- digeorge syndrome  {{MeshNumber|C16.131.314|Digestive+System+Abnormalities}} --- digestive system abnormalities  {{MeshNumber|C16.131.384|Eye+Abnormalities}} --- eye abnormalities  {{MeshNumber|C16.131.482|Lymphatic+Abnormalities}} --- lymphatic abnormalities  {{MeshNumber|C16.131.581|Monsters}} --- monsters  {{MeshNumber|C16.131.621|Musculoskeletal+Abnormalities}} --- musculoskeletal abnormalities  {{MeshNumber|C16.131.666|Nervous+System+Malformations}} --- nervous system malformations  {{MeshNumber|C16.131.740|Respiratory+System+Abnormalities}} --- respiratory system abnormalities  {{MeshNumber|C16.131.810|Situs+Inversus}} --- situs inversus  {{MeshNumber|C16.131.831|Skin+Abnormalities}} --- skin abnormalities  {{MeshNumber|C16.131.850|Stomatognathic+System+Abnormalities}} --- stomatognathic system abnormalities  {{MeshNumber|C16.131.894|Thyroid+Dysgenesis}} --- thyroid dysgenesis  {{MeshNumber|C16.131.939|Urogenital+Abnormalities}} --- urogenital abnormalities  {{MeshNumber|C16.300|Fetal+Diseases}} --- fetal diseases  {{MeshNumber|C16.300.030|Chorioamnionitis}} --- chorioamnionitis  {{MeshNumber|C16.300.060|Erythroblastosis,+Fetal}} --- erythroblastosis, fetal  {{MeshNumber|C16.300.080|Fetal+Alcohol+Syndrome}} --- fetal alcohol syndrome  {{MeshNumber|C16.300.100|Fetal+Hypoxia}} --- fetal hypoxia  {{MeshNumber|C16.300.390|Fetal+Growth+Retardation}} --- fetal growth retardation  {{MeshNumber|C16.300.570|Fetal+Macrosomia}} --- fetal macrosomia  {{MeshNumber|C16.300.580|Meconium+Aspiration+Syndrome}} --- meconium aspiration syndrome  {{MeshNumber|C16.320|Genetic+Diseases,+Inborn}} --- genetic diseases, inborn  {{MeshNumber|C16.320.033|Adrenal+Hyperplasia,+Congenital}} --- adrenal hyperplasia, congenital  {{MeshNumber|C16.320.070|Anemia,+Hemolytic,+Congenital}} --- anemia, hemolytic, congenital  {{MeshNumber|C16.320.077|Anemia,+Hypoplastic,+Congenital}} --- anemia, hypoplastic, congenital  {{MeshNumber|C16.320.080|Ataxia+Telangiectasia}} --- ataxia telangiectasia  {{MeshNumber|C16.320.099|Blood+Coagulation+Disorders,+Inherited}} --- blood coagulation disorders, inherited  {{MeshNumber|C16.320.129|CADASIL}} --- cadasil  {{MeshNumber|C16.320.160|Cardiomyopathy,+Hypertrophic,+Familial}} --- cardiomyopathy, hypertrophic, familial  {{MeshNumber|C16.320.170|Cherubism}} --- cherubism  {{MeshNumber|C16.320.180|Chromosome+Disorders}} --- chromosome disorders  {{MeshNumber|C16.320.190|Cystic+Fibrosis}} --- cystic fibrosis  {{MeshNumber|C16.320.240|Dwarfism}} --- dwarfism  {{MeshNumber|C16.320.290|Eye+Diseases,+Hereditary}} --- eye diseases, hereditary  {{MeshNumber|C16.320.306|Familial+Mediterranean+Fever}} --- familial mediterranean fever  {{MeshNumber|C16.320.322|Genetic+Diseases,+X-Linked}} --- genetic diseases, x-linked  {{MeshNumber|C16.320.338|Genetic+Diseases,+Y-Linked}} --- genetic diseases, y-linked  {{MeshNumber|C16.320.355|Hajdu-Cheney+Syndrome}} --- hajdu-cheney syndrome  {{MeshNumber|C16.320.365|Hemoglobinopathies}} --- hemoglobinopathies  {{MeshNumber|C16.320.400|Heredodegenerative+Disorders,+Nervous+System}} --- heredodegenerative disorders, nervous system  {{MeshNumber|C16.320.427|Hyperthyroxinemia,+Familial+Dysalbuminemic}} --- hyperthyroxinemia, familial dysalbuminemic  {{MeshNumber|C16.320.455|Jervell-Lange+Nielsen+Syndrome}} --- jervell-lange nielsen syndrome  {{MeshNumber|C16.320.467|Kallmann+Syndrome}} --- kallmann syndrome  {{MeshNumber|C16.320.480|Kartagener+Syndrome}} --- kartagener syndrome  {{MeshNumber|C16.320.540|Marfan+Syndrome}} --- marfan syndrome  {{MeshNumber|C16.320.565|Metabolism,+Inborn+Errors}} --- metabolism, inborn errors  {{MeshNumber|C16.320.577|Muscular+Dystrophies}} --- muscular dystrophies  {{MeshNumber|C16.320.590|Myasthenic+Syndromes,+Congenital}} --- myasthenic syndromes, congenital  {{MeshNumber|C16.320.600|Nail-Patella+Syndrome}} --- nail-patella syndrome  {{MeshNumber|C16.320.700|Neoplastic+Syndromes,+Hereditary}} --- neoplastic syndromes, hereditary  {{MeshNumber|C16.320.737|Osteogenesis+Imperfecta}} --- osteogenesis imperfecta  {{MeshNumber|C16.320.775|Pain+Insensitivity,+Congenital}} --- pain insensitivity, congenital  {{MeshNumber|C16.320.800|Romano-Ward+Syndrome}} --- romano-ward syndrome  {{MeshNumber|C16.320.850|Skin+Diseases,+Genetic}} --- skin diseases, genetic  {{MeshNumber|C16.320.925|Werner+Syndrome}} --- werner syndrome  {{MeshNumber|C16.614|Infant,+Newborn,+Diseases}} --- infant, newborn, diseases  {{MeshNumber|C16.614.042|Amniotic+Band+Syndrome}} --- amniotic band syndrome  {{MeshNumber|C16.614.053|Anemia,+Neonatal}} --- anemia, neonatal  {{MeshNumber|C16.614.092|Asphyxia+Neonatorum}} --- asphyxia neonatorum  {{MeshNumber|C16.614.131|Birth+Injuries}} --- birth injuries  {{MeshNumber|C16.614.213|Cystic+Fibrosis}} --- cystic fibrosis  {{MeshNumber|C16.614.258|Epilepsy,+Benign+Neonatal}} --- epilepsy, benign neonatal  {{MeshNumber|C16.614.304|Erythroblastosis,+Fetal}} --- erythroblastosis, fetal  {{MeshNumber|C16.614.378|Hemorrhagic+Disease+of+Newborn}} --- hemorrhagic disease of newborn  {{MeshNumber|C16.614.390|Hernia,+Umbilical}} --- hernia, umbilical  {{MeshNumber|C16.614.414|Hydrocephalus}} --- hydrocephalus  {{MeshNumber|C16.614.438|Hydrophthalmos}} --- hydrophthalmos  {{MeshNumber|C16.614.451|Hyperbilirubinemia,+Neonatal}} --- hyperbilirubinemia, neonatal  {{MeshNumber|C16.614.465|Hyperostosis,+Cortical,+Congenital}} --- hyperostosis, cortical, congenital  {{MeshNumber|C16.614.492|Ichthyosis}} --- ichthyosis  {{MeshNumber|C16.614.521|Infant,+Premature,+Diseases}} --- infant, premature, diseases  {{MeshNumber|C16.614.580|Meconium+Aspiration+Syndrome}} --- meconium aspiration syndrome  {{MeshNumber|C16.614.595|Mobius+Syndrome}} --- mobius syndrome  {{MeshNumber|C16.614.610|Neonatal+Abstinence+Syndrome}} --- neonatal abstinence syndrome  {{MeshNumber|C16.614.643|Nystagmus,+Congenital}} --- nystagmus, congenital  {{MeshNumber|C16.614.677|Ophthalmia+Neonatorum}} --- ophthalmia neonatorum  {{MeshNumber|C16.614.694|Persistent+Fetal+Circulation+Syndrome}} --- persistent fetal circulation syndrome  {{MeshNumber|C16.614.716|Persistent+Hyperinsulinemia+Hypoglycemia+of+Infancy}} --- persistent hyperinsulinemia hypoglycemia of infancy  {{MeshNumber|C16.614.760|Rothmund-Thomson+Syndrome}} --- rothmund-thomson syndrome  {{MeshNumber|C16.614.810|Sclerema+Neonatorum}} --- sclerema neonatorum  {{MeshNumber|C16.614.815|Severe+Combined+Immunodeficiency}} --- severe combined immunodeficiency  {{MeshNumber|C16.614.868|Syphilis,+Congenital}} --- syphilis, congenital  {{MeshNumber|C16.614.890|Thanatophoric+Dysplasia}} --- thanatophoric dysplasia  {{MeshNumber|C16.614.909|Toxoplasmosis,+Congenital}} --- toxoplasmosis, congenital  {{MeshNumber|C16.614.947|Wolman+Disease}} --- wolman disease 
{{other MeSH codes}}

The following is a list of the "C" codes for MeSH. It is a product of the United States National Library of Medicine.

Source for content is [https://www.nlm.nih.gov/mesh/filelist.html here]. (File "2006 MeSH Trees".)

{{MeshNumber|C16|Congenital,+Hereditary,+and+Neonatal+Diseases+and+Abnormalities}} --- congenital, hereditary, and neonatal diseases and abnormalities

{{MeshNumber|C16.131|Abnormalities}} --- abnormalities

{{MeshNumber|C16.131.042|Abnormalities,+Drug-Induced}} --- abnormalities, drug-induced

{{MeshNumber|C16.131.077|Abnormalities,+Multiple}} --- abnormalities, multiple

  • {{MeshNumber|C16.131.077.065|Alagille+Syndrome}} --- alagille syndrome
  • {{MeshNumber|C16.131.077.095|Angelman+Syndrome}} --- angelman syndrome
  • {{MeshNumber|C16.131.077.112|Bardet-Biedl+Syndrome}} --- bardet-biedl syndrome
  • {{MeshNumber|C16.131.077.130|Basal+Cell+Nevus+Syndrome}} --- basal cell nevus syndrome
  • {{MeshNumber|C16.131.077.133|Beckwith-Wiedemann+Syndrome}} --- beckwith-wiedemann syndrome
  • {{MeshNumber|C16.131.077.137|Bloom+Syndrome}} --- bloom syndrome
  • {{MeshNumber|C16.131.077.208|Branchio-Oto-Renal+Syndrome}} --- branchio-oto-renal syndrome
  • {{MeshNumber|C16.131.077.250|Cockayne+Syndrome}} --- cockayne syndrome
  • {{MeshNumber|C16.131.077.262|Cri-du-Chat+Syndrome}} --- cri-du-chat syndrome
  • {{MeshNumber|C16.131.077.272|De+Lange+Syndrome}} --- de lange syndrome
  • {{MeshNumber|C16.131.077.327|Down+Syndrome}} --- down syndrome
  • {{MeshNumber|C16.131.077.350|Ectodermal+Dysplasia}} --- ectodermal dysplasia
  • {{MeshNumber|C16.131.077.350.398|Ellis-Van+Creveld+Syndrome}} --- ellis-van creveld syndrome
  • {{MeshNumber|C16.131.077.350.424|Focal+Dermal+Hypoplasia}} --- focal dermal hypoplasia
  • {{MeshNumber|C16.131.077.350.712|Neurocutaneous+Syndromes}} --- neurocutaneous syndromes
  • {{MeshNumber|C16.131.077.393|Gardner+Syndrome}} --- gardner syndrome
  • {{MeshNumber|C16.131.077.410|Holoprosencephaly}} --- holoprosencephaly
  • {{MeshNumber|C16.131.077.445|Incontinentia+Pigmenti}} --- incontinentia pigmenti
  • {{MeshNumber|C16.131.077.509|Laurence-Moon+Syndrome}} --- laurence-moon syndrome
  • {{MeshNumber|C16.131.077.525|LEOPARD+Syndrome}} --- leopard syndrome
  • {{MeshNumber|C16.131.077.550|Marfan+Syndrome}} --- marfan syndrome
  • {{MeshNumber|C16.131.077.578|Mobius+Syndrome}} --- mobius syndrome
  • {{MeshNumber|C16.131.077.606|Nail-Patella+Syndrome}} --- nail-patella syndrome
  • {{MeshNumber|C16.131.077.661|Oculocerebrorenal+Syndrome}} --- oculocerebrorenal syndrome
  • {{MeshNumber|C16.131.077.677|Orofaciodigital+Syndromes}} --- orofaciodigital syndromes
  • {{MeshNumber|C16.131.077.703|POEMS+Syndrome}} --- poems syndrome
  • {{MeshNumber|C16.131.077.730|Prader-Willi+Syndrome}} --- prader-willi syndrome
  • {{MeshNumber|C16.131.077.740|Proteus+Syndrome}} --- proteus syndrome
  • {{MeshNumber|C16.131.077.745|Prune+Belly+Syndrome}} --- prune belly syndrome
  • {{MeshNumber|C16.131.077.790|Rubella+Syndrome,+Congenital}} --- rubella syndrome, congenital
  • {{MeshNumber|C16.131.077.804|Rubinstein-Taybi+Syndrome}} --- rubinstein-taybi syndrome
  • {{MeshNumber|C16.131.077.850|Short+Rib-Polydactyly+Syndrome}} --- short rib-polydactyly syndrome
  • {{MeshNumber|C16.131.077.860|Smith-Lemli-Opitz+Syndrome}} --- smith-lemli-opitz syndrome
  • {{MeshNumber|C16.131.077.938|Waardenburg's+Syndrome}} --- waardenburg's syndrome
  • {{MeshNumber|C16.131.077.951|Wolfram+Syndrome}} --- wolfram syndrome
  • {{MeshNumber|C16.131.077.970|Zellweger+Syndrome}} --- zellweger syndrome

{{MeshNumber|C16.131.080|Abnormalities,+Radiation-Induced}} --- abnormalities, radiation-induced

{{MeshNumber|C16.131.240|Cardiovascular+Abnormalities}} --- cardiovascular abnormalities

  • {{MeshNumber|C16.131.240.110|Arterio-Arterial+Fistula}} --- arterio-arterial fistula
  • {{MeshNumber|C16.131.240.150|Arteriovenous+Malformations}} --- arteriovenous malformations
  • {{MeshNumber|C16.131.240.150.125|Arteriovenous+Fistula}} --- arteriovenous fistula
  • {{MeshNumber|C16.131.240.150.295|Intracranial+Arteriovenous+Malformations}} --- intracranial arteriovenous malformations
  • {{MeshNumber|C16.131.240.275|Central+Nervous+System+Vascular+Malformations}} --- central nervous system vascular malformations
  • {{MeshNumber|C16.131.240.400|Heart+Defects,+Congenital}} --- heart defects, congenital
  • {{MeshNumber|C16.131.240.400.090|Aortic+Coarctation}} --- aortic coarctation
  • {{MeshNumber|C16.131.240.400.145|Arrhythmogenic+Right+Ventricular+Dysplasia}} --- arrhythmogenic right ventricular dysplasia
  • {{MeshNumber|C16.131.240.400.200|Cor+Triatriatum}} --- cor triatriatum
  • {{MeshNumber|C16.131.240.400.210|Coronary+Vessel+Anomalies}} --- coronary vessel anomalies
  • {{MeshNumber|C16.131.240.400.220|Crisscross+Heart}} --- crisscross heart
  • {{MeshNumber|C16.131.240.400.280|Dextrocardia}} --- dextrocardia
  • {{MeshNumber|C16.131.240.400.280.500|Kartagener+Syndrome}} --- kartagener syndrome
  • {{MeshNumber|C16.131.240.400.340|Ductus+Arteriosus,+Patent}} --- ductus arteriosus, patent
  • {{MeshNumber|C16.131.240.400.395|Ebstein's+Anomaly}} --- ebstein's anomaly
  • {{MeshNumber|C16.131.240.400.450|Eisenmenger+Complex}} --- eisenmenger complex
  • {{MeshNumber|C16.131.240.400.560|Heart+Septal+Defects}} --- heart septal defects
  • {{MeshNumber|C16.131.240.400.560.098|Aortopulmonary+Septal+Defect}} --- aortopulmonary septal defect
  • {{MeshNumber|C16.131.240.400.560.350|Endocardial+Cushion+Defects}} --- endocardial cushion defects
  • {{MeshNumber|C16.131.240.400.560.375|Heart+Septal+Defects,+Atrial}} --- heart septal defects, atrial
  • {{MeshNumber|C16.131.240.400.560.375.518|Lutembacher's+Syndrome}} --- lutembacher's syndrome
  • {{MeshNumber|C16.131.240.400.560.375.702|Trilogy+of+Fallot}} --- trilogy of fallot
  • {{MeshNumber|C16.131.240.400.560.540|Heart+Septal+Defects,+Ventricular}} --- heart septal defects, ventricular
  • {{MeshNumber|C16.131.240.400.625|Hypoplastic+Left+Heart+Syndrome}} --- hypoplastic left heart syndrome
  • {{MeshNumber|C16.131.240.400.685|LEOPARD+Syndrome}} --- leopard syndrome
  • {{MeshNumber|C16.131.240.400.701|Levocardia}} --- levocardia
  • {{MeshNumber|C16.131.240.400.720|Marfan+Syndrome}} --- marfan syndrome
  • {{MeshNumber|C16.131.240.400.849|Tetralogy+of+Fallot}} --- tetralogy of fallot
  • {{MeshNumber|C16.131.240.400.915|Transposition+of+Great+Vessels}} --- transposition of great vessels
  • {{MeshNumber|C16.131.240.400.915.300|Double+Outlet+Right+Ventricle}} --- double outlet right ventricle
  • {{MeshNumber|C16.131.240.400.920|Tricuspid+Atresia}} --- tricuspid atresia
  • {{MeshNumber|C16.131.240.400.929|Truncus+Arteriosus,+Persistent}} --- truncus arteriosus, persistent
  • {{MeshNumber|C16.131.240.670|Pulmonary+Atresia}} --- pulmonary atresia
  • {{MeshNumber|C16.131.240.700|Scimitar+Syndrome}} --- scimitar syndrome

{{MeshNumber|C16.131.260|Chromosome+Disorders}} --- chromosome disorders

  • {{MeshNumber|C16.131.260.040|Angelman+Syndrome}} --- angelman syndrome
  • {{MeshNumber|C16.131.260.080|Beckwith-Wiedemann+Syndrome}} --- beckwith-wiedemann syndrome
  • {{MeshNumber|C16.131.260.090|Branchio-Oto-Renal+Syndrome}} --- branchio-oto-renal syndrome
  • {{MeshNumber|C16.131.260.190|Cri-du-Chat+Syndrome}} --- cri-du-chat syndrome
  • {{MeshNumber|C16.131.260.210|De+Lange+Syndrome}} --- de lange syndrome
  • {{MeshNumber|C16.131.260.260|Down+Syndrome}} --- down syndrome
  • {{MeshNumber|C16.131.260.380|Holoprosencephaly}} --- holoprosencephaly
  • {{MeshNumber|C16.131.260.700|Prader-Willi+Syndrome}} --- prader-willi syndrome
  • {{MeshNumber|C16.131.260.790|Rubinstein-Taybi+Syndrome}} --- rubinstein-taybi syndrome
  • {{MeshNumber|C16.131.260.800|Sex+Chromosome+Disorders}} --- sex chromosome disorders
  • {{MeshNumber|C16.131.260.800.240|Ectodermal+Dysplasia}} --- ectodermal dysplasia
  • {{MeshNumber|C16.131.260.800.240.350|Focal+Dermal+Hypoplasia}} --- focal dermal hypoplasia
  • {{MeshNumber|C16.131.260.800.300|Fragile+X+Syndrome}} --- fragile x syndrome
  • {{MeshNumber|C16.131.260.800.340|Gonadal+Dysgenesis,+46,XY}} --- gonadal dysgenesis, 46,xy
  • {{MeshNumber|C16.131.260.800.345|Gonadal+Dysgenesis,+Mixed}} --- gonadal dysgenesis, mixed
  • {{MeshNumber|C16.131.260.800.490|Klinefelter+Syndrome}} --- klinefelter syndrome
  • {{MeshNumber|C16.131.260.800.670|Orofaciodigital+Syndromes}} --- orofaciodigital syndromes
  • {{MeshNumber|C16.131.260.800.870|Turner+Syndrome}} --- turner syndrome
  • {{MeshNumber|C16.131.260.940|WAGR+Syndrome}} --- wagr syndrome
  • {{MeshNumber|C16.131.260.970|Williams+Syndrome}} --- williams syndrome

{{MeshNumber|C16.131.300|DiGeorge+Syndrome}} --- digeorge syndrome

{{MeshNumber|C16.131.314|Digestive+System+Abnormalities}} --- digestive system abnormalities

  • {{MeshNumber|C16.131.314.094|Anus,+Imperforate}} --- anus, imperforate
  • {{MeshNumber|C16.131.314.125|Biliary+Atresia}} --- biliary atresia
  • {{MeshNumber|C16.131.314.184|Choledochal+Cyst}} --- choledochal cyst
  • {{MeshNumber|C16.131.314.184.500|Caroli+Disease}} --- caroli disease
  • {{MeshNumber|C16.131.314.244|Diaphragmatic+Eventration}} --- diaphragmatic eventration
  • {{MeshNumber|C16.131.314.330|Esophageal+Atresia}} --- esophageal atresia
  • {{MeshNumber|C16.131.314.439|Hirschsprung+Disease}} --- hirschsprung disease
  • {{MeshNumber|C16.131.314.466|Intestinal+Atresia}} --- intestinal atresia
  • {{MeshNumber|C16.131.314.556|Meckel+Diverticulum}} --- meckel diverticulum

{{MeshNumber|C16.131.384|Eye+Abnormalities}} --- eye abnormalities

  • {{MeshNumber|C16.131.384.079|Aniridia}} --- aniridia
  • {{MeshNumber|C16.131.384.079.950|WAGR+Syndrome}} --- wagr syndrome
  • {{MeshNumber|C16.131.384.159|Anophthalmos}} --- anophthalmos
  • {{MeshNumber|C16.131.384.190|Blepharophimosis}} --- blepharophimosis
  • {{MeshNumber|C16.131.384.282|Coloboma}} --- coloboma
  • {{MeshNumber|C16.131.384.405|Ectopia+Lentis}} --- ectopia lentis
  • {{MeshNumber|C16.131.384.480|Hydrophthalmos}} --- hydrophthalmos
  • {{MeshNumber|C16.131.384.666|Microphthalmos}} --- microphthalmos
  • {{MeshNumber|C16.131.384.784|Retinal+Dysplasia}} --- retinal dysplasia

{{MeshNumber|C16.131.482|Lymphatic+Abnormalities}} --- lymphatic abnormalities

  • {{MeshNumber|C16.131.482.500|Lymphangiectasis,+Intestinal}} --- lymphangiectasis, intestinal

{{MeshNumber|C16.131.581|Monsters}} --- monsters

  • {{MeshNumber|C16.131.581.197|Anencephaly}} --- anencephaly
  • {{MeshNumber|C16.131.581.806|Twins,+Conjoined}} --- twins, conjoined

{{MeshNumber|C16.131.621|Musculoskeletal+Abnormalities}} --- musculoskeletal abnormalities

  • {{MeshNumber|C16.131.621.077|Arthrogryposis}} --- arthrogryposis
  • {{MeshNumber|C16.131.621.207|Craniofacial+Abnormalities}} --- craniofacial abnormalities
  • {{MeshNumber|C16.131.621.207.207|Cleidocranial+Dysplasia}} --- cleidocranial dysplasia
  • {{MeshNumber|C16.131.621.207.231|Craniofacial+Dysostosis}} --- craniofacial dysostosis
  • {{MeshNumber|C16.131.621.207.231.427|Hallermann's+Syndrome}} --- hallermann's syndrome
  • {{MeshNumber|C16.131.621.207.231.480|Hypertelorism}} --- hypertelorism
  • {{MeshNumber|C16.131.621.207.231.576|Mandibulofacial+Dysostosis}} --- mandibulofacial dysostosis
  • {{MeshNumber|C16.131.621.207.231.576.410|Goldenhar+Syndrome}} --- goldenhar syndrome
  • {{MeshNumber|C16.131.621.207.240|Craniosynostoses}} --- craniosynostoses
  • {{MeshNumber|C16.131.621.207.240.100|Acrocephalosyndactylia}} --- acrocephalosyndactylia
  • {{MeshNumber|C16.131.621.207.410|Holoprosencephaly}} --- holoprosencephaly
  • {{MeshNumber|C16.131.621.207.525|LEOPARD+Syndrome}} --- leopard syndrome
  • {{MeshNumber|C16.131.621.207.540|Maxillofacial+Abnormalities}} --- maxillofacial abnormalities
  • {{MeshNumber|C16.131.621.207.540.170|Cherubism}} --- cherubism
  • {{MeshNumber|C16.131.621.207.540.460|Jaw+Abnormalities}} --- jaw abnormalities
  • {{MeshNumber|C16.131.621.207.540.460.185|Cleft+Palate}} --- cleft palate
  • {{MeshNumber|C16.131.621.207.540.460.457|Micrognathism}} --- micrognathism
  • {{MeshNumber|C16.131.621.207.540.460.606|Pierre+Robin+Syndrome}} --- pierre robin syndrome
  • {{MeshNumber|C16.131.621.207.540.460.655|Prognathism}} --- prognathism
  • {{MeshNumber|C16.131.621.207.540.460.813|Retrognathism}} --- retrognathism
  • {{MeshNumber|C16.131.621.207.620|Microcephaly}} --- microcephaly
  • {{MeshNumber|C16.131.621.207.690|Noonan+Syndrome}} --- noonan syndrome
  • {{MeshNumber|C16.131.621.207.700|Orofaciodigital+Syndromes}} --- orofaciodigital syndromes
  • {{MeshNumber|C16.131.621.207.715|Plagiocephaly,+Nonsynostotic}} --- plagiocephaly, nonsynostotic
  • {{MeshNumber|C16.131.621.207.720|Platybasia}} --- platybasia
  • {{MeshNumber|C16.131.621.207.850|Rubinstein-Taybi+Syndrome}} --- rubinstein-taybi syndrome
  • {{MeshNumber|C16.131.621.386|Funnel+Chest}} --- funnel chest
  • {{MeshNumber|C16.131.621.417|Gastroschisis}} --- gastroschisis
  • {{MeshNumber|C16.131.621.445|Hajdu-Cheney+Syndrome}} --- hajdu-cheney syndrome
  • {{MeshNumber|C16.131.621.449|Hip+Dislocation,+Congenital}} --- hip dislocation, congenital
  • {{MeshNumber|C16.131.621.551|Klippel-Feil+Syndrome}} --- klippel-feil syndrome
  • {{MeshNumber|C16.131.621.585|Limb+Deformities,+Congenital}} --- limb deformities, congenital
  • {{MeshNumber|C16.131.621.585.350|Ectromelia}} --- ectromelia
  • {{MeshNumber|C16.131.621.585.380|Foot+Deformities,+Congenital}} --- foot deformities, congenital
  • {{MeshNumber|C16.131.621.585.425|Hand+Deformities,+Congenital}} --- hand deformities, congenital
  • {{MeshNumber|C16.131.621.585.512|Lower+Extremity+Deformities,+Congenital}} --- lower extremity deformities, congenital
  • {{MeshNumber|C16.131.621.585.600|Polydactyly}} --- polydactyly
  • {{MeshNumber|C16.131.621.585.600.750|Short+Rib-Polydactyly+Syndrome}} --- short rib-polydactyly syndrome
  • {{MeshNumber|C16.131.621.585.620|Proteus+Syndrome}} --- proteus syndrome
  • {{MeshNumber|C16.131.621.585.800|Syndactyly}} --- syndactyly
  • {{MeshNumber|C16.131.621.585.800.100|Acrocephalosyndactylia}} --- acrocephalosyndactylia
  • {{MeshNumber|C16.131.621.585.800.756|Poland+Syndrome}} --- poland syndrome
  • {{MeshNumber|C16.131.621.585.984|Thanatophoric+Dysplasia}} --- thanatophoric dysplasia
  • {{MeshNumber|C16.131.621.585.988|Upper+Extremity+Deformities,+Congenital}} --- upper extremity deformities, congenital
  • {{MeshNumber|C16.131.621.906|Synostosis}} --- synostosis
  • {{MeshNumber|C16.131.621.906.364|Craniosynostoses}} --- craniosynostoses
  • {{MeshNumber|C16.131.621.906.364.100|Acrocephalosyndactylia}} --- acrocephalosyndactylia
  • {{MeshNumber|C16.131.621.906.819|Syndactyly}} --- syndactyly
  • {{MeshNumber|C16.131.621.906.819.100|Acrocephalosyndactylia}} --- acrocephalosyndactylia
  • {{MeshNumber|C16.131.621.906.819.756|Poland+Syndrome}} --- poland syndrome

{{MeshNumber|C16.131.666|Nervous+System+Malformations}} --- nervous system malformations

  • {{MeshNumber|C16.131.666.142|Central+Nervous+System+Cysts}} --- central nervous system cysts
  • {{MeshNumber|C16.131.666.142.100|Arachnoid+Cysts}} --- arachnoid cysts
  • {{MeshNumber|C16.131.666.190|Central+Nervous+System+Vascular+Malformations}} --- central nervous system vascular malformations
  • {{MeshNumber|C16.131.666.190.200|Hemangioma,+Cavernous,+Central+Nervous+System}} --- hemangioma, cavernous, central nervous system
  • {{MeshNumber|C16.131.666.190.600|Central+Nervous+System+Venous+Angioma}} --- central nervous system venous angioma
  • {{MeshNumber|C16.131.666.190.800|Sinus+Pericranii}} --- sinus pericranii
  • {{MeshNumber|C16.131.666.205|Dandy-Walker+Syndrome}} --- dandy-walker syndrome
  • {{MeshNumber|C16.131.666.300|Hereditary+Motor+and+Sensory+Neuropathies}} --- hereditary motor and sensory neuropathies
  • {{MeshNumber|C16.131.666.300.200|Charcot-Marie-Tooth+Disease}} --- charcot-marie-tooth disease
  • {{MeshNumber|C16.131.666.300.780|Refsum+Disease}} --- refsum disease
  • {{MeshNumber|C16.131.666.300.820|Spastic+Paraplegia,+Hereditary}} --- spastic paraplegia, hereditary
  • {{MeshNumber|C16.131.666.310|Hereditary+Sensory+and+Autonomic+Neuropathies}} --- hereditary sensory and autonomic neuropathies
  • {{MeshNumber|C16.131.666.310.309|Dysautonomia,+Familial}} --- dysautonomia, familial
  • {{MeshNumber|C16.131.666.410|Holoprosencephaly}} --- holoprosencephaly
  • {{MeshNumber|C16.131.666.450|Hydranencephaly}} --- hydranencephaly
  • {{MeshNumber|C16.131.666.460|Intracranial+Arteriovenous+Malformations}} --- intracranial arteriovenous malformations
  • {{MeshNumber|C16.131.666.680|Neural+Tube+Defects}} --- neural tube defects
  • {{MeshNumber|C16.131.666.680.196|Anencephaly}} --- anencephaly
  • {{MeshNumber|C16.131.666.680.291|Arnold-Chiari+Malformation}} --- arnold-chiari malformation
  • {{MeshNumber|C16.131.666.680.488|Encephalocele}} --- encephalocele
  • {{MeshNumber|C16.131.666.680.598|Meningocele}} --- meningocele
  • {{MeshNumber|C16.131.666.680.610|Meningomyelocele}} --- meningomyelocele
  • {{MeshNumber|C16.131.666.680.800|Spinal+Dysraphism}} --- spinal dysraphism
  • {{MeshNumber|C16.131.666.680.800.730|Spina+Bifida+Cystica}} --- spina bifida cystica
  • {{MeshNumber|C16.131.666.680.800.750|Spina+Bifida+Occulta}} --- spina bifida occulta
  • {{MeshNumber|C16.131.666.845|Septo-Optic+Dysplasia}} --- septo-optic dysplasia

{{MeshNumber|C16.131.740|Respiratory+System+Abnormalities}} --- respiratory system abnormalities

  • {{MeshNumber|C16.131.740.195|Bronchogenic+Cyst}} --- bronchogenic cyst
  • {{MeshNumber|C16.131.740.214|Bronchopulmonary+Sequestration}} --- bronchopulmonary sequestration
  • {{MeshNumber|C16.131.740.271|Choanal+Atresia}} --- choanal atresia
  • {{MeshNumber|C16.131.740.290|Cystic+Adenomatoid+Malformation+of+Lung,+Congenital}} --- cystic adenomatoid malformation of lung, congenital
  • {{MeshNumber|C16.131.740.501|Kartagener+Syndrome}} --- kartagener syndrome
  • {{MeshNumber|C16.131.740.815|Scimitar+Syndrome}} --- scimitar syndrome
  • {{MeshNumber|C16.131.740.830|Tracheobronchomegaly}} --- tracheobronchomegaly

{{MeshNumber|C16.131.810|Situs+Inversus}} --- situs inversus

  • {{MeshNumber|C16.131.810.250|Dextrocardia}} --- dextrocardia
  • {{MeshNumber|C16.131.810.250.500|Kartagener+Syndrome}} --- kartagener syndrome
  • {{MeshNumber|C16.131.810.700|Levocardia}} --- levocardia

{{MeshNumber|C16.131.831|Skin+Abnormalities}} --- skin abnormalities

  • {{MeshNumber|C16.131.831.066|Acrodermatitis}} --- acrodermatitis
  • {{MeshNumber|C16.131.831.150|Dyskeratosis+Congenita}} --- dyskeratosis congenita
  • {{MeshNumber|C16.131.831.350|Ectodermal+Dysplasia}} --- ectodermal dysplasia
  • {{MeshNumber|C16.131.831.350.398|Ellis-Van+Creveld+Syndrome}} --- ellis-van creveld syndrome
  • {{MeshNumber|C16.131.831.350.424|Focal+Dermal+Hypoplasia}} --- focal dermal hypoplasia
  • {{MeshNumber|C16.131.831.350.712|Neurocutaneous+Syndromes}} --- neurocutaneous syndromes
  • {{MeshNumber|C16.131.831.428|Ehlers-Danlos+Syndrome}} --- ehlers-danlos syndrome
  • {{MeshNumber|C16.131.831.493|Epidermolysis+Bullosa}} --- epidermolysis bullosa
  • {{MeshNumber|C16.131.831.493.080|Epidermolysis+Bullosa+Acquisita}} --- epidermolysis bullosa acquisita
  • {{MeshNumber|C16.131.831.493.160|Epidermolysis+Bullosa+Dystrophica}} --- epidermolysis bullosa dystrophica
  • {{MeshNumber|C16.131.831.493.170|Epidermolysis+Bullosa,+Junctional}} --- epidermolysis bullosa, junctional
  • {{MeshNumber|C16.131.831.493.180|Epidermolysis+Bullosa+Simplex}} --- epidermolysis bullosa simplex
  • {{MeshNumber|C16.131.831.512|Ichthyosis}} --- ichthyosis
  • {{MeshNumber|C16.131.831.512.400|Ichthyosiform+Erythroderma,+Congenital}} --- ichthyosiform erythroderma, congenital
  • {{MeshNumber|C16.131.831.512.400.375|Hyperkeratosis,+Epidermolytic}} --- hyperkeratosis, epidermolytic
  • {{MeshNumber|C16.131.831.512.400.410|Ichthyosis,+Lamellar}} --- ichthyosis, lamellar
  • {{MeshNumber|C16.131.831.512.410|Ichthyosis+Vulgaris}} --- ichthyosis vulgaris
  • {{MeshNumber|C16.131.831.512.420|Ichthyosis,+X-Linked}} --- ichthyosis, x-linked
  • {{MeshNumber|C16.131.831.512.723|Sjogren-Larsson+Syndrome}} --- sjogren-larsson syndrome
  • {{MeshNumber|C16.131.831.580|Incontinentia+Pigmenti}} --- incontinentia pigmenti
  • {{MeshNumber|C16.131.831.675|Port-Wine+Stain}} --- port-wine stain
  • {{MeshNumber|C16.131.831.766|Pseudoxanthoma+Elasticum}} --- pseudoxanthoma elasticum
  • {{MeshNumber|C16.131.831.775|Rothmund-Thomson+Syndrome}} --- rothmund-thomson syndrome
  • {{MeshNumber|C16.131.831.812|Sclerema+Neonatorum}} --- sclerema neonatorum
  • {{MeshNumber|C16.131.831.936|Xeroderma+Pigmentosum}} --- xeroderma pigmentosum

{{MeshNumber|C16.131.850|Stomatognathic+System+Abnormalities}} --- stomatognathic system abnormalities

  • {{MeshNumber|C16.131.850.500|Maxillofacial+Abnormalities}} --- maxillofacial abnormalities
  • {{MeshNumber|C16.131.850.500.460|Jaw+Abnormalities}} --- jaw abnormalities
  • {{MeshNumber|C16.131.850.500.460.185|Cleft+Palate}} --- cleft palate
  • {{MeshNumber|C16.131.850.500.460.457|Micrognathism}} --- micrognathism
  • {{MeshNumber|C16.131.850.500.460.606|Pierre+Robin+Syndrome}} --- pierre robin syndrome
  • {{MeshNumber|C16.131.850.500.460.655|Prognathism}} --- prognathism
  • {{MeshNumber|C16.131.850.500.460.813|Retrognathism}} --- retrognathism
  • {{MeshNumber|C16.131.850.525|Mouth+Abnormalities}} --- mouth abnormalities
  • {{MeshNumber|C16.131.850.525.164|Cleft+Lip}} --- cleft lip
  • {{MeshNumber|C16.131.850.525.185|Cleft+Palate}} --- cleft palate
  • {{MeshNumber|C16.131.850.525.304|Fibromatosis,+Gingival}} --- fibromatosis, gingival
  • {{MeshNumber|C16.131.850.525.480|Macrostomia}} --- macrostomia
  • {{MeshNumber|C16.131.850.525.520|Microstomia}} --- microstomia
  • {{MeshNumber|C16.131.850.525.955|Velopharyngeal+Insufficiency}} --- velopharyngeal insufficiency
  • {{MeshNumber|C16.131.850.800|Tooth+Abnormalities}} --- tooth abnormalities
  • {{MeshNumber|C16.131.850.800.065|Amelogenesis+Imperfecta}} --- amelogenesis imperfecta
  • {{MeshNumber|C16.131.850.800.065.300|Dental+Enamel+Hypoplasia}} --- dental enamel hypoplasia
  • {{MeshNumber|C16.131.850.800.100|Anodontia}} --- anodontia
  • {{MeshNumber|C16.131.850.800.250|Dens+in+Dente}} --- dens in dente
  • {{MeshNumber|C16.131.850.800.260|Dentin+Dysplasia}} --- dentin dysplasia
  • {{MeshNumber|C16.131.850.800.270|Dentinogenesis+Imperfecta}} --- dentinogenesis imperfecta
  • {{MeshNumber|C16.131.850.800.370|Fused+Teeth}} --- fused teeth
  • {{MeshNumber|C16.131.850.800.600|Odontodysplasia}} --- odontodysplasia
  • {{MeshNumber|C16.131.850.800.850|Tooth,+Supernumerary}} --- tooth, supernumerary

{{MeshNumber|C16.131.894|Thyroid+Dysgenesis}} --- thyroid dysgenesis

  • {{MeshNumber|C16.131.894.500|Lingual+Thyroid}} --- lingual thyroid
  • {{MeshNumber|C16.131.894.500.500|Lingual+Goiter}} --- lingual goiter

{{MeshNumber|C16.131.939|Urogenital+Abnormalities}} --- urogenital abnormalities

  • {{MeshNumber|C16.131.939.132|Bladder+Exstrophy}} --- bladder exstrophy
  • {{MeshNumber|C16.131.939.258|Cryptorchidism}} --- cryptorchidism
  • {{MeshNumber|C16.131.939.374|Epispadias}} --- epispadias
  • {{MeshNumber|C16.131.939.445|Frasier+Syndrome}} --- frasier syndrome
  • {{MeshNumber|C16.131.939.516|Hypospadias}} --- hypospadias
  • {{MeshNumber|C16.131.939.629|Multicystic+Dysplastic+Kidney}} --- multicystic dysplastic kidney
  • {{MeshNumber|C16.131.939.742|Nephritis,+Hereditary}} --- nephritis, hereditary
  • {{MeshNumber|C16.131.939.842|Sex+Differentiation+Disorders}} --- sex differentiation disorders
  • {{MeshNumber|C16.131.939.842.260|Freemartinism}} --- freemartinism
  • {{MeshNumber|C16.131.939.842.309|Gonadal+Dysgenesis}} --- gonadal dysgenesis
  • {{MeshNumber|C16.131.939.842.309.193|Gonadal+Dysgenesis,+46,XX}} --- gonadal dysgenesis, 46,xx
  • {{MeshNumber|C16.131.939.842.309.388|Gonadal+Dysgenesis,+46,XY}} --- gonadal dysgenesis, 46,xy
  • {{MeshNumber|C16.131.939.842.309.391|Gonadal+Dysgenesis,+Mixed}} --- gonadal dysgenesis, mixed
  • {{MeshNumber|C16.131.939.842.309.872|Turner+Syndrome}} --- turner syndrome
  • {{MeshNumber|C16.131.939.842.316|Hermaphroditism}} --- hermaphroditism
  • {{MeshNumber|C16.131.939.842.316.313|Hermaphroditism,+True}} --- hermaphroditism, true
  • {{MeshNumber|C16.131.939.842.316.627|Pseudohermaphroditism}} --- pseudohermaphroditism
  • {{MeshNumber|C16.131.939.842.316.627.109|Androgen-Insensitivity+Syndrome}} --- androgen-insensitivity syndrome
  • {{MeshNumber|C16.131.939.842.316.627.220|Denys-Drash+Syndrome}} --- denys-drash syndrome
  • {{MeshNumber|C16.131.939.842.425|Kallmann+Syndrome}} --- kallmann syndrome
  • {{MeshNumber|C16.131.939.842.454|Klinefelter+Syndrome}} --- klinefelter syndrome
  • {{MeshNumber|C16.131.939.921|WAGR+Syndrome}} --- wagr syndrome

{{MeshNumber|C16.300|Fetal+Diseases}} --- fetal diseases

{{MeshNumber|C16.300.030|Chorioamnionitis}} --- chorioamnionitis

{{MeshNumber|C16.300.060|Erythroblastosis,+Fetal}} --- erythroblastosis, fetal

  • {{MeshNumber|C16.300.060.480|Hydrops+Fetalis}} --- hydrops fetalis

{{MeshNumber|C16.300.080|Fetal+Alcohol+Syndrome}} --- fetal alcohol syndrome

{{MeshNumber|C16.300.100|Fetal+Hypoxia}} --- fetal hypoxia

{{MeshNumber|C16.300.390|Fetal+Growth+Retardation}} --- fetal growth retardation

{{MeshNumber|C16.300.570|Fetal+Macrosomia}} --- fetal macrosomia

{{MeshNumber|C16.300.580|Meconium+Aspiration+Syndrome}} --- meconium aspiration syndrome

{{MeshNumber|C16.320|Genetic+Diseases,+Inborn}} --- genetic diseases, inborn

{{MeshNumber|C16.320.033|Adrenal+Hyperplasia,+Congenital}} --- adrenal hyperplasia, congenital

{{MeshNumber|C16.320.070|Anemia,+Hemolytic,+Congenital}} --- anemia, hemolytic, congenital

  • {{MeshNumber|C16.320.070.095|Anemia,+Dyserythropoietic,+Congenital}} --- anemia, dyserythropoietic, congenital
  • {{MeshNumber|C16.320.070.100|Anemia,+Hemolytic,+Congenital+Nonspherocytic}} --- anemia, hemolytic, congenital nonspherocytic
  • {{MeshNumber|C16.320.070.150|Anemia,+Sickle+Cell}} --- anemia, sickle cell
  • {{MeshNumber|C16.320.070.150.440|Hemoglobin+SC+Disease}} --- hemoglobin sc disease
  • {{MeshNumber|C16.320.070.150.670|Sickle+Cell+Trait}} --- sickle cell trait
  • {{MeshNumber|C16.320.070.365|Elliptocytosis,+Hereditary}} --- elliptocytosis, hereditary
  • {{MeshNumber|C16.320.070.480|Glucosephosphate+Dehydrogenase+Deficiency}} --- glucosephosphate dehydrogenase deficiency
  • {{MeshNumber|C16.320.070.480.370|Favism}} --- favism
  • {{MeshNumber|C16.320.070.490|Hemoglobin+C+Disease}} --- hemoglobin c disease
  • {{MeshNumber|C16.320.070.785|Spherocytosis,+Hereditary}} --- spherocytosis, hereditary
  • {{MeshNumber|C16.320.070.875|Thalassemia}} --- thalassemia
  • {{MeshNumber|C16.320.070.875.100|alpha-Thalassemia}} --- alpha-thalassemia
  • {{MeshNumber|C16.320.070.875.150|beta-Thalassemia}} --- beta-thalassemia

{{MeshNumber|C16.320.077|Anemia,+Hypoplastic,+Congenital}} --- anemia, hypoplastic, congenital

  • {{MeshNumber|C16.320.077.090|Anemia,+Diamond-Blackfan}} --- anemia, diamond-blackfan
  • {{MeshNumber|C16.320.077.280|Fanconi+Anemia}} --- fanconi anemia

{{MeshNumber|C16.320.080|Ataxia+Telangiectasia}} --- ataxia telangiectasia

{{MeshNumber|C16.320.099|Blood+Coagulation+Disorders,+Inherited}} --- blood coagulation disorders, inherited

  • {{MeshNumber|C16.320.099.037|Activated+Protein+C+Resistance}} --- activated protein c resistance
  • {{MeshNumber|C16.320.099.056|Afibrinogenemia}} --- afibrinogenemia
  • {{MeshNumber|C16.320.099.075|Antithrombin+III+Deficiency}} --- antithrombin iii deficiency
  • {{MeshNumber|C16.320.099.080|Bernard-Soulier+Syndrome}} --- bernard-soulier syndrome
  • {{MeshNumber|C16.320.099.300|Factor+V+Deficiency}} --- factor v deficiency
  • {{MeshNumber|C16.320.099.310|Factor+VII+Deficiency}} --- factor vii deficiency
  • {{MeshNumber|C16.320.099.320|Factor+X+Deficiency}} --- factor x deficiency
  • {{MeshNumber|C16.320.099.325|Factor+XI+Deficiency}} --- factor xi deficiency
  • {{MeshNumber|C16.320.099.330|Factor+XII+Deficiency}} --- factor xii deficiency
  • {{MeshNumber|C16.320.099.335|Factor+XIII+Deficiency}} --- factor xiii deficiency
  • {{MeshNumber|C16.320.099.500|Hemophilia+A}} --- hemophilia a
  • {{MeshNumber|C16.320.099.510|Hemophilia+B}} --- hemophilia b
  • {{MeshNumber|C16.320.099.515|Hermanski-Pudlak+Syndrome}} --- hermanski-pudlak syndrome
  • {{MeshNumber|C16.320.099.550|Hypoprothrombinemias}} --- hypoprothrombinemias
  • {{MeshNumber|C16.320.099.690|Protein+C+Deficiency}} --- protein c deficiency
  • {{MeshNumber|C16.320.099.820|Thrombasthenia}} --- thrombasthenia
  • {{MeshNumber|C16.320.099.900|von+Willebrand+Disease}} --- von willebrand disease
  • {{MeshNumber|C16.320.099.970|Wiskott-Aldrich+Syndrome}} --- wiskott-aldrich syndrome

{{MeshNumber|C16.320.129|CADASIL}} --- cadasil

{{MeshNumber|C16.320.160|Cardiomyopathy,+Hypertrophic,+Familial}} --- cardiomyopathy, hypertrophic, familial

{{MeshNumber|C16.320.170|Cherubism}} --- cherubism

{{MeshNumber|C16.320.180|Chromosome+Disorders}} --- chromosome disorders

  • {{MeshNumber|C16.320.180.040|Angelman+Syndrome}} --- angelman syndrome
  • {{MeshNumber|C16.320.180.080|Beckwith-Wiedemann+Syndrome}} --- beckwith-wiedemann syndrome
  • {{MeshNumber|C16.320.180.090|Branchio-Oto-Renal+Syndrome}} --- branchio-oto-renal syndrome
  • {{MeshNumber|C16.320.180.190|Cri-du-Chat+Syndrome}} --- cri-du-chat syndrome
  • {{MeshNumber|C16.320.180.210|De+Lange+Syndrome}} --- de lange syndrome
  • {{MeshNumber|C16.320.180.260|Down+Syndrome}} --- down syndrome
  • {{MeshNumber|C16.320.180.380|Holoprosencephaly}} --- holoprosencephaly
  • {{MeshNumber|C16.320.180.700|Prader-Willi+Syndrome}} --- prader-willi syndrome
  • {{MeshNumber|C16.320.180.790|Rubinstein-Taybi+Syndrome}} --- rubinstein-taybi syndrome
  • {{MeshNumber|C16.320.180.800|Sex+Chromosome+Disorders}} --- sex chromosome disorders
  • {{MeshNumber|C16.320.180.800.240|Ectodermal+Dysplasia}} --- ectodermal dysplasia
  • {{MeshNumber|C16.320.180.800.240.350|Focal+Dermal+Hypoplasia}} --- focal dermal hypoplasia
  • {{MeshNumber|C16.320.180.800.300|Fragile+X+Syndrome}} --- fragile x syndrome
  • {{MeshNumber|C16.320.180.800.340|Gonadal+Dysgenesis,+46,XY}} --- gonadal dysgenesis, 46,xy
  • {{MeshNumber|C16.320.180.800.345|Gonadal+Dysgenesis,+Mixed}} --- gonadal dysgenesis, mixed
  • {{MeshNumber|C16.320.180.800.490|Klinefelter+Syndrome}} --- klinefelter syndrome
  • {{MeshNumber|C16.320.180.800.670|Orofaciodigital+Syndromes}} --- orofaciodigital syndromes
  • {{MeshNumber|C16.320.180.800.870|Turner+Syndrome}} --- turner syndrome
  • {{MeshNumber|C16.320.180.940|WAGR+Syndrome}} --- wagr syndrome
  • {{MeshNumber|C16.320.180.970|Williams+Syndrome}} --- williams syndrome

{{MeshNumber|C16.320.190|Cystic+Fibrosis}} --- cystic fibrosis

{{MeshNumber|C16.320.240|Dwarfism}} --- dwarfism

  • {{MeshNumber|C16.320.240.500|Achondroplasia}} --- achondroplasia
  • {{MeshNumber|C16.320.240.562|Cockayne+Syndrome}} --- cockayne syndrome
  • {{MeshNumber|C16.320.240.625|Congenital+Hypothyroidism}} --- congenital hypothyroidism
  • {{MeshNumber|C16.320.240.750|Laron+Syndrome}} --- laron syndrome
  • {{MeshNumber|C16.320.240.875|Mulibrey+Nanism}} --- mulibrey nanism

{{MeshNumber|C16.320.290|Eye+Diseases,+Hereditary}} --- eye diseases, hereditary

  • {{MeshNumber|C16.320.290.040|Albinism}} --- albinism
  • {{MeshNumber|C16.320.290.040.090|Albinism,+Ocular}} --- albinism, ocular
  • {{MeshNumber|C16.320.290.040.100|Albinism,+Oculocutaneous}} --- albinism, oculocutaneous
  • {{MeshNumber|C16.320.290.040.100.400|Hermanski-Pudlak+Syndrome}} --- hermanski-pudlak syndrome
  • {{MeshNumber|C16.320.290.040.600|Piebaldism}} --- piebaldism
  • {{MeshNumber|C16.320.290.078|Aniridia}} --- aniridia
  • {{MeshNumber|C16.320.290.078.950|WAGR+Syndrome}} --- wagr syndrome
  • {{MeshNumber|C16.320.290.142|Choroideremia}} --- choroideremia
  • {{MeshNumber|C16.320.290.162|Corneal+Dystrophies,+Hereditary}} --- corneal dystrophies, hereditary
  • {{MeshNumber|C16.320.290.162.410|Fuchs'+Endothelial+Dystrophy}} --- fuchs' endothelial dystrophy
  • {{MeshNumber|C16.320.290.235|Duane+Retraction+Syndrome}} --- duane retraction syndrome
  • {{MeshNumber|C16.320.290.468|Gyrate+Atrophy}} --- gyrate atrophy
  • {{MeshNumber|C16.320.290.564|Optic+Atrophies,+Hereditary}} --- optic atrophies, hereditary
  • {{MeshNumber|C16.320.290.564.400|Optic+Atrophy,+Hereditary,+Leber}} --- optic atrophy, hereditary, leber
  • {{MeshNumber|C16.320.290.564.500|Optic+Atrophy,+Autosomal+Dominant}} --- optic atrophy, autosomal dominant
  • {{MeshNumber|C16.320.290.564.980|Wolfram+Syndrome}} --- wolfram syndrome
  • {{MeshNumber|C16.320.290.660|Retinal+Dysplasia}} --- retinal dysplasia
  • {{MeshNumber|C16.320.290.684|Retinitis+Pigmentosa}} --- retinitis pigmentosa
  • {{MeshNumber|C16.320.290.684.500|Usher+Syndromes}} --- usher syndromes

{{MeshNumber|C16.320.306|Familial+Mediterranean+Fever}} --- familial mediterranean fever

{{MeshNumber|C16.320.322|Genetic+Diseases,+X-Linked}} --- genetic diseases, x-linked

  • {{MeshNumber|C16.320.322.061|Androgen-Insensitivity+Syndrome}} --- androgen-insensitivity syndrome
  • {{MeshNumber|C16.320.322.092|Choroideremia}} --- choroideremia
  • {{MeshNumber|C16.320.322.108|Dyskeratosis+Congenita}} --- dyskeratosis congenita
  • {{MeshNumber|C16.320.322.124|Fabry+Disease}} --- fabry disease
  • {{MeshNumber|C16.320.322.186|Focal+Dermal+Hypoplasia}} --- focal dermal hypoplasia
  • {{MeshNumber|C16.320.322.201|Glycogen+Storage+Disease+Type+IIb}} --- glycogen storage disease type iib
  • {{MeshNumber|C16.320.322.217|Glycogen+Storage+Disease+Type+VIII}} --- glycogen storage disease type viii
  • {{MeshNumber|C16.320.322.233|Granulomatous+Disease,+Chronic}} --- granulomatous disease, chronic
  • {{MeshNumber|C16.320.322.241|Ichthyosis,+X-Linked}} --- ichthyosis, x-linked
  • {{MeshNumber|C16.320.322.360|Hemophilia+B}} --- hemophilia b
  • {{MeshNumber|C16.320.322.500|Mental+Retardation,+X-Linked}} --- mental retardation, x-linked
  • {{MeshNumber|C16.320.322.500.124|Adrenoleukodystrophy}} --- adrenoleukodystrophy
  • {{MeshNumber|C16.320.322.500.249|Coffin-Lowry+Syndrome}} --- coffin-lowry syndrome
  • {{MeshNumber|C16.320.322.500.500|Fragile+X+Syndrome}} --- fragile x syndrome
  • {{MeshNumber|C16.320.322.500.625|Lesch-Nyhan+Syndrome}} --- lesch-nyhan syndrome
  • {{MeshNumber|C16.320.322.500.687|Menkes+Kinky+Hair+Syndrome}} --- menkes kinky hair syndrome
  • {{MeshNumber|C16.320.322.500.750|Mucopolysaccharidosis+II}} --- mucopolysaccharidosis ii
  • {{MeshNumber|C16.320.322.500.875|Pyruvate+Dehydrogenase+Complex+Deficiency+Disease}} --- pyruvate dehydrogenase complex deficiency disease
  • {{MeshNumber|C16.320.322.500.937|Rett+Syndrome}} --- rett syndrome
  • {{MeshNumber|C16.320.322.562|Muscular+Dystrophy,+Duchenne}} --- muscular dystrophy, duchenne
  • {{MeshNumber|C16.320.322.625|Muscular+Dystrophy,+Emery-Dreifuss}} --- muscular dystrophy, emery-dreifuss
  • {{MeshNumber|C16.320.322.750|Oculocerebrorenal+Syndrome}} --- oculocerebrorenal syndrome
  • {{MeshNumber|C16.320.322.906|Pelizaeus-Merzbacher+Disease}} --- pelizaeus-merzbacher disease
  • {{MeshNumber|C16.320.322.937|Wiskott-Aldrich+Syndrome}} --- wiskott-aldrich syndrome

{{MeshNumber|C16.320.338|Genetic+Diseases,+Y-Linked}} --- genetic diseases, y-linked

{{MeshNumber|C16.320.355|Hajdu-Cheney+Syndrome}} --- hajdu-cheney syndrome

{{MeshNumber|C16.320.365|Hemoglobinopathies}} --- hemoglobinopathies

  • {{MeshNumber|C16.320.365.155|Anemia,+Sickle+Cell}} --- anemia, sickle cell
  • {{MeshNumber|C16.320.365.155.440|Hemoglobin+SC+Disease}} --- hemoglobin sc disease
  • {{MeshNumber|C16.320.365.155.668|Sickle+Cell+Trait}} --- sickle cell trait
  • {{MeshNumber|C16.320.365.463|Hemoglobin+C+Disease}} --- hemoglobin c disease
  • {{MeshNumber|C16.320.365.826|Thalassemia}} --- thalassemia
  • {{MeshNumber|C16.320.365.826.100|alpha-Thalassemia}} --- alpha-thalassemia
  • {{MeshNumber|C16.320.365.826.100.350|Hydrops+Fetalis}} --- hydrops fetalis
  • {{MeshNumber|C16.320.365.826.150|beta-Thalassemia}} --- beta-thalassemia

{{MeshNumber|C16.320.400|Heredodegenerative+Disorders,+Nervous+System}} --- heredodegenerative disorders, nervous system

  • {{MeshNumber|C16.320.400.024|Alexander+Disease}} --- alexander disease
  • {{MeshNumber|C16.320.400.050|Amyloid+Neuropathies,+Familial}} --- amyloid neuropathies, familial
  • {{MeshNumber|C16.320.400.150|Canavan+Disease}} --- canavan disease
  • {{MeshNumber|C16.320.400.200|Cockayne+Syndrome}} --- cockayne syndrome
  • {{MeshNumber|C16.320.400.330|Dystonia+Musculorum+Deformans}} --- dystonia musculorum deformans
  • {{MeshNumber|C16.320.400.350|Gerstmann-Straussler-Scheinker+Disease}} --- gerstmann-straussler-scheinker disease
  • {{MeshNumber|C16.320.400.375|Hallervorden-Spatz+Syndrome}} --- hallervorden-spatz syndrome
  • {{MeshNumber|C16.320.400.387|Hepatolenticular+Degeneration}} --- hepatolenticular degeneration
  • {{MeshNumber|C16.320.400.393|Hereditary+Central+Nervous+System+Demyelinating+Diseases}} --- hereditary central nervous system demyelinating diseases
  • {{MeshNumber|C16.320.400.400|Hereditary+Motor+and+Sensory+Neuropathies}} --- hereditary motor and sensory neuropathies
  • {{MeshNumber|C16.320.400.400.200|Charcot-Marie-Tooth+Disease}} --- charcot-marie-tooth disease
  • {{MeshNumber|C16.320.400.400.780|Refsum+Disease}} --- refsum disease
  • {{MeshNumber|C16.320.400.400.820|Spastic+Paraplegia,+Hereditary}} --- spastic paraplegia, hereditary
  • {{MeshNumber|C16.320.400.415|Hereditary+Sensory+and+Autonomic+Neuropathies}} --- hereditary sensory and autonomic neuropathies
  • {{MeshNumber|C16.320.400.415.309|Dysautonomia,+Familial}} --- dysautonomia, familial
  • {{MeshNumber|C16.320.400.430|Huntington+Disease}} --- huntington disease
  • {{MeshNumber|C16.320.400.480|Lafora+Disease}} --- lafora disease
  • {{MeshNumber|C16.320.400.500|Lesch-Nyhan+Syndrome}} --- lesch-nyhan syndrome
  • {{MeshNumber|C16.320.400.520|Menkes+Kinky+Hair+Syndrome}} --- menkes kinky hair syndrome
  • {{MeshNumber|C16.320.400.525|Mental+Retardation,+X-Linked}} --- mental retardation, x-linked
  • {{MeshNumber|C16.320.400.525.124|Adrenoleukodystrophy}} --- adrenoleukodystrophy
  • {{MeshNumber|C16.320.400.525.249|Coffin-Lowry+Syndrome}} --- coffin-lowry syndrome
  • {{MeshNumber|C16.320.400.525.500|Fragile+X+Syndrome}} --- fragile x syndrome
  • {{MeshNumber|C16.320.400.525.625|Lesch-Nyhan+Syndrome}} --- lesch-nyhan syndrome
  • {{MeshNumber|C16.320.400.525.687|Menkes+Kinky+Hair+Syndrome}} --- menkes kinky hair syndrome
  • {{MeshNumber|C16.320.400.525.750|Mucopolysaccharidosis+II}} --- mucopolysaccharidosis ii
  • {{MeshNumber|C16.320.400.525.875|Pyruvate+Dehydrogenase+Complex+Deficiency+Disease}} --- pyruvate dehydrogenase complex deficiency disease
  • {{MeshNumber|C16.320.400.525.937|Rett+Syndrome}} --- rett syndrome
  • {{MeshNumber|C16.320.400.540|Myotonia+Congenita}} --- myotonia congenita
  • {{MeshNumber|C16.320.400.542|Myotonic+Dystrophy}} --- myotonic dystrophy
  • {{MeshNumber|C16.320.400.560|Neurofibromatoses}} --- neurofibromatosis
  • {{MeshNumber|C16.320.400.560.400|Neurofibromatosis+1}} --- neurofibromatosis 1
  • {{MeshNumber|C16.320.400.560.700|Neurofibromatosis+2}} --- neurofibromatosis 2
  • {{MeshNumber|C16.320.400.600|Neuronal+Ceroid-Lipofuscinosis}} --- neuronal ceroid-lipofuscinosis
  • {{MeshNumber|C16.320.400.630|Optic+Atrophies,+Hereditary}} --- optic atrophies, hereditary
  • {{MeshNumber|C16.320.400.630.400|Optic+Atrophy,+Hereditary,+Leber}} --- optic atrophy, hereditary, leber
  • {{MeshNumber|C16.320.400.630.500|Optic+Atrophy,+Autosomal+Dominant}} --- optic atrophy, autosomal dominant
  • {{MeshNumber|C16.320.400.630.980|Wolfram+Syndrome}} --- wolfram syndrome
  • {{MeshNumber|C16.320.400.700|Rett+Syndrome}} --- rett syndrome
  • {{MeshNumber|C16.320.400.765|Spinal+Muscular+Atrophies+of+Childhood}} --- spinal muscular atrophies of childhood
  • {{MeshNumber|C16.320.400.780|Spinocerebellar+Degenerations}} --- spinocerebellar degenerations
  • {{MeshNumber|C16.320.400.780.200|Friedreich+Ataxia}} --- friedreich ataxia
  • {{MeshNumber|C16.320.400.780.500|Myoclonic+Cerebellar+Dyssynergia}} --- myoclonic cerebellar dyssynergia
  • {{MeshNumber|C16.320.400.780.750|Olivopontocerebellar+Atrophies}} --- olivopontocerebellar atrophies
  • {{MeshNumber|C16.320.400.780.875|Spinocerebellar+Ataxias}} --- spinocerebellar ataxias
  • {{MeshNumber|C16.320.400.780.875.500|Machado-Joseph+Disease}} --- machado-joseph disease
  • {{MeshNumber|C16.320.400.820|Tourette+Syndrome}} --- tourette syndrome
  • {{MeshNumber|C16.320.400.880|Tuberous+Sclerosis}} --- tuberous sclerosis
  • {{MeshNumber|C16.320.400.940|Unverricht-Lundborg+Syndrome}} --- unverricht-lundborg syndrome

{{MeshNumber|C16.320.427|Hyperthyroxinemia,+Familial+Dysalbuminemic}} --- hyperthyroxinemia, familial dysalbuminemic

{{MeshNumber|C16.320.455|Jervell-Lange+Nielsen+Syndrome}} --- jervell-lange nielsen syndrome

{{MeshNumber|C16.320.467|Kallmann+Syndrome}} --- kallmann syndrome

{{MeshNumber|C16.320.480|Kartagener+Syndrome}} --- kartagener syndrome

{{MeshNumber|C16.320.540|Marfan+Syndrome}} --- marfan syndrome

{{MeshNumber|C16.320.565|Metabolism,+Inborn+Errors}} --- metabolism, inborn errors

  • {{MeshNumber|C16.320.565.066|Amino+Acid+Metabolism,+Inborn+Errors}} --- amino acid metabolism, inborn errors
  • {{MeshNumber|C16.320.565.066.102|Albinism}} --- albinism
  • {{MeshNumber|C16.320.565.066.102.090|Albinism,+Ocular}} --- albinism, ocular
  • {{MeshNumber|C16.320.565.066.102.100|Albinism,+Oculocutaneous}} --- albinism, oculocutaneous
  • {{MeshNumber|C16.320.565.066.102.100.400|Hermanski-Pudlak+Syndrome}} --- hermanski-pudlak syndrome
  • {{MeshNumber|C16.320.565.066.102.600|Piebaldism}} --- piebaldism
  • {{MeshNumber|C16.320.565.066.187|Alkaptonuria}} --- alkaptonuria
  • {{MeshNumber|C16.320.565.066.210|Aminoaciduria,+Renal}} --- aminoaciduria, renal
  • {{MeshNumber|C16.320.565.066.210.250|Cystinuria}} --- cystinuria
  • {{MeshNumber|C16.320.565.066.210.490|Hartnup+Disease}} --- hartnup disease
  • {{MeshNumber|C16.320.565.066.275|Carbamoyl-Phosphate+Synthase+I+Deficiency+Disease}} --- carbamoyl-phosphate synthase i deficiency disease
  • {{MeshNumber|C16.320.565.066.340|Citrullinemia}} --- citrullinemia
  • {{MeshNumber|C16.320.565.066.470|Homocystinuria}} --- homocystinuria
  • {{MeshNumber|C16.320.565.066.475|Hyperargininemia}} --- hyperargininemia
  • {{MeshNumber|C16.320.565.066.477|Hyperglycinemia,+Nonketotic}} --- hyperglycinemia, nonketotic
  • {{MeshNumber|C16.320.565.066.480|Hyperhomocysteinemia}} --- hyperhomocysteinemia
  • {{MeshNumber|C16.320.565.066.544|Hyperlysinemias}} --- hyperlysinemias
  • {{MeshNumber|C16.320.565.066.608|Maple+Syrup+Urine+Disease}} --- maple syrup urine disease
  • {{MeshNumber|C16.320.565.066.620|Multiple+Carboxylase+Deficiency}} --- multiple carboxylase deficiency
  • {{MeshNumber|C16.320.565.066.620.100|Biotinidase+Deficiency}} --- biotinidase deficiency
  • {{MeshNumber|C16.320.565.066.620.380|Holocarboxylase+Synthetase+Deficiency}} --- holocarboxylase synthetase deficiency
  • {{MeshNumber|C16.320.565.066.729|Ornithine+Carbamoyltransferase+Deficiency+Disease}} --- ornithine carbamoyltransferase deficiency disease
  • {{MeshNumber|C16.320.565.066.766|Phenylketonurias}} --- phenylketonurias
  • {{MeshNumber|C16.320.565.066.766.500|Phenylketonuria,+Maternal}} --- phenylketonuria, maternal
  • {{MeshNumber|C16.320.565.066.880|Tyrosinemias}} --- tyrosinemias
  • {{MeshNumber|C16.320.565.088|Amino+Acid+Transport+Disorders,+Inborn}} --- amino acid transport disorders, inborn
  • {{MeshNumber|C16.320.565.088.400|Hartnup+Disease}} --- hartnup disease
  • {{MeshNumber|C16.320.565.088.600|Oculocerebrorenal+Syndrome}} --- oculocerebrorenal syndrome
  • {{MeshNumber|C16.320.565.100|Amyloidosis,+Familial}} --- amyloidosis, familial
  • {{MeshNumber|C16.320.565.100.050|Amyloid+Neuropathies,+Familial}} --- amyloid neuropathies, familial
  • {{MeshNumber|C16.320.565.100.160|Cerebral+Amyloid+Angiopathy,+Familial}} --- cerebral amyloid angiopathy, familial
  • {{MeshNumber|C16.320.565.150|Brain+Diseases,+Metabolic,+Inborn}} --- brain diseases, metabolic, inborn
  • {{MeshNumber|C16.320.565.150.050|Abetalipoproteinemia}} --- abetalipoproteinemia
  • {{MeshNumber|C16.320.565.150.162|Carbamoyl-Phosphate+Synthase+I+Deficiency+Disease}} --- carbamoyl-phosphate synthase i deficiency disease
  • {{MeshNumber|C16.320.565.150.168|Cerebral+Amyloid+Angiopathy,+Familial}} --- cerebral amyloid angiopathy, familial
  • {{MeshNumber|C16.320.565.150.175|Citrullinemia}} --- citrullinemia
  • {{MeshNumber|C16.320.565.150.320|Galactosemias}} --- galactosemias
  • {{MeshNumber|C16.320.565.150.355|Hartnup+Disease}} --- hartnup disease
  • {{MeshNumber|C16.320.565.150.360|Hepatolenticular+Degeneration}} --- hepatolenticular degeneration
  • {{MeshNumber|C16.320.565.150.365|Homocystinuria}} --- homocystinuria
  • {{MeshNumber|C16.320.565.150.370|Hyperargininemia}} --- hyperargininemia
  • {{MeshNumber|C16.320.565.150.375|Hyperglycinemia,+Nonketotic}} --- hyperglycinemia, nonketotic
  • {{MeshNumber|C16.320.565.150.380|Hyperlysinemias}} --- hyperlysinemias
  • {{MeshNumber|C16.320.565.150.412|Leigh+Disease}} --- leigh disease
  • {{MeshNumber|C16.320.565.150.425|Lesch-Nyhan+Syndrome}} --- lesch-nyhan syndrome
  • {{MeshNumber|C16.320.565.150.435|Lysosomal+Storage+Diseases,+Nervous+System}} --- lysosomal storage diseases, nervous system
  • {{MeshNumber|C16.320.565.150.435.295|Fucosidosis}} --- fucosidosis
  • {{MeshNumber|C16.320.565.150.435.340|Glycogen+Storage+Disease+Type+II}} --- glycogen storage disease type ii
  • {{MeshNumber|C16.320.565.150.435.590|Mucolipidoses}} --- mucolipidoses
  • {{MeshNumber|C16.320.565.150.435.810|Sialic+Acid+Storage+Disease}} --- sialic acid storage disease
  • {{MeshNumber|C16.320.565.150.435.825|Sphingolipidoses}} --- sphingolipidoses
  • {{MeshNumber|C16.320.565.150.435.825.200|Fabry+Disease}} --- fabry disease
  • {{MeshNumber|C16.320.565.150.435.825.300|Gangliosidoses}} --- gangliosidoses
  • {{MeshNumber|C16.320.565.150.435.825.300.300|Gangliosidoses+GM2}} --- gangliosidoses gm2
  • {{MeshNumber|C16.320.565.150.435.825.300.300.800|Sandhoff+Disease}} --- sandhoff disease
  • {{MeshNumber|C16.320.565.150.435.825.300.300.840|Tay-Sachs+Disease}} --- tay-sachs disease
  • {{MeshNumber|C16.320.565.150.435.825.300.300.920|Tay-Sachs+Disease,+AB+Variant}} --- tay-sachs disease, ab variant
  • {{MeshNumber|C16.320.565.150.435.825.300.400|Gangliosidosis+GM1}} --- gangliosidosis gm1
  • {{MeshNumber|C16.320.565.150.435.825.400|Gaucher+Disease}} --- gaucher disease
  • {{MeshNumber|C16.320.565.150.435.825.590|Leukodystrophy,+Globoid+Cell}} --- leukodystrophy, globoid cell
  • {{MeshNumber|C16.320.565.150.435.825.594|Leukodystrophy,+Metachromatic}} --- leukodystrophy, metachromatic
  • {{MeshNumber|C16.320.565.150.435.825.700|Niemann-Pick+Diseases}} --- niemann-pick diseases
  • {{MeshNumber|C16.320.565.150.520|Maple+Syrup+Urine+Disease}} --- maple syrup urine disease
  • {{MeshNumber|C16.320.565.150.535|MELAS+Syndrome}} --- melas syndrome
  • {{MeshNumber|C16.320.565.150.540|Menkes+Kinky+Hair+Syndrome}} --- menkes kinky hair syndrome
  • {{MeshNumber|C16.320.565.150.545|MERRF+Syndrome}} --- merrf syndrome
  • {{MeshNumber|C16.320.565.150.640|Oculocerebrorenal+Syndrome}} --- oculocerebrorenal syndrome
  • {{MeshNumber|C16.320.565.150.650|Ornithine+Carbamoyltransferase+Deficiency+Disease}} --- ornithine carbamoyltransferase deficiency disease
  • {{MeshNumber|C16.320.565.150.680|Peroxisomal+Disorders}} --- peroxisomal disorders
  • {{MeshNumber|C16.320.565.150.680.100|Adrenoleukodystrophy}} --- adrenoleukodystrophy
  • {{MeshNumber|C16.320.565.150.680.760|Refsum+Disease}} --- refsum disease
  • {{MeshNumber|C16.320.565.150.680.970|Zellweger+Syndrome}} --- zellweger syndrome
  • {{MeshNumber|C16.320.565.150.687|Phenylketonurias}} --- phenylketonurias
  • {{MeshNumber|C16.320.565.150.687.500|Phenylketonuria,+Maternal}} --- phenylketonuria, maternal
  • {{MeshNumber|C16.320.565.150.725|Pyruvate+Carboxylase+Deficiency+Disease}} --- pyruvate carboxylase deficiency disease
  • {{MeshNumber|C16.320.565.150.750|Pyruvate+Dehydrogenase+Complex+Deficiency+Disease}} --- pyruvate dehydrogenase complex deficiency disease
  • {{MeshNumber|C16.320.565.150.875|Tyrosinemias}} --- tyrosinemias
  • {{MeshNumber|C16.320.565.202|Carbohydrate+Metabolism,+Inborn+Errors}} --- carbohydrate metabolism, inborn errors
  • {{MeshNumber|C16.320.565.202.125|Carbohydrate-Deficient+Glycoprotein+Syndrome}} --- carbohydrate-deficient glycoprotein syndrome
  • {{MeshNumber|C16.320.565.202.251|Fructose+Metabolism,+Inborn+Errors}} --- fructose metabolism, inborn errors
  • {{MeshNumber|C16.320.565.202.251.221|Fructose-1,6-Diphosphatase+Deficiency}} --- fructose-1,6-diphosphatase deficiency
  • {{MeshNumber|C16.320.565.202.251.271|Fructose+Intolerance}} --- Hereditary fructose intolerance
  • {{MeshNumber|C16.320.565.202.303|Fucosidosis}} --- fucosidosis
  • {{MeshNumber|C16.320.565.202.355|Galactosemias}} --- galactosemias
  • {{MeshNumber|C16.320.565.202.449|Glycogen+Storage+Disease}} --- glycogen storage disease
  • {{MeshNumber|C16.320.565.202.449.448|Glycogen+Storage+Disease+Type+I}} --- glycogen storage disease type i
  • {{MeshNumber|C16.320.565.202.449.500|Glycogen+Storage+Disease+Type+II}} --- glycogen storage disease type ii
  • {{MeshNumber|C16.320.565.202.449.510|Glycogen+Storage+Disease+Type+IIb}} --- glycogen storage disease type iib
  • {{MeshNumber|C16.320.565.202.449.520|Glycogen+Storage+Disease+Type+III}} --- glycogen storage disease type iii
  • {{MeshNumber|C16.320.565.202.449.540|Glycogen+Storage+Disease+Type+IV}} --- glycogen storage disease type iv
  • {{MeshNumber|C16.320.565.202.449.560|Glycogen+Storage+Disease+Type+V}} --- glycogen storage disease type v
  • {{MeshNumber|C16.320.565.202.449.580|Glycogen+Storage+Disease+Type+VI}} --- glycogen storage disease type vi
  • {{MeshNumber|C16.320.565.202.449.600|Glycogen+Storage+Disease+Type+VII}} --- glycogen storage disease type vii
  • {{MeshNumber|C16.320.565.202.449.620|Glycogen+Storage+Disease+Type+VIII}} --- glycogen storage disease type viii
  • {{MeshNumber|C16.320.565.202.460|Hyperoxaluria,+Primary}} --- hyperoxaluria, primary
  • {{MeshNumber|C16.320.565.202.589|Lactose+Intolerance}} --- lactose intolerance
  • {{MeshNumber|C16.320.565.202.607|Mannosidase+Deficiency+Diseases}} --- mannosidase deficiency diseases
  • {{MeshNumber|C16.320.565.202.607.500|alpha-Mannosidosis}} --- alpha-mannosidosis
  • {{MeshNumber|C16.320.565.202.607.750|beta-Mannosidosis}} --- beta-mannosidosis
  • {{MeshNumber|C16.320.565.202.670|Mucolipidoses}} --- mucolipidoses
  • {{MeshNumber|C16.320.565.202.715|Mucopolysaccharidoses}} --- mucopolysaccharidoses
  • {{MeshNumber|C16.320.565.202.715.640|Mucopolysaccharidosis+I}} --- mucopolysaccharidosis i
  • {{MeshNumber|C16.320.565.202.715.645|Mucopolysaccharidosis+II}} --- mucopolysaccharidosis ii
  • {{MeshNumber|C16.320.565.202.715.650|Mucopolysaccharidosis+III}} --- mucopolysaccharidosis iii
  • {{MeshNumber|C16.320.565.202.715.655|Mucopolysaccharidosis+IV}} --- mucopolysaccharidosis iv
  • {{MeshNumber|C16.320.565.202.715.670|Mucopolysaccharidosis+VI}} --- mucopolysaccharidosis vi
  • {{MeshNumber|C16.320.565.202.715.675|Mucopolysaccharidosis+VII}} --- mucopolysaccharidosis vii
  • {{MeshNumber|C16.320.565.202.720|Multiple+Carboxylase+Deficiency}} --- multiple carboxylase deficiency
  • {{MeshNumber|C16.320.565.202.720.100|Biotinidase+Deficiency}} --- biotinidase deficiency
  • {{MeshNumber|C16.320.565.202.720.380|Holocarboxylase+Synthetase+Deficiency}} --- holocarboxylase synthetase deficiency
  • {{MeshNumber|C16.320.565.202.742|Nesidioblastosis}} --- nesidioblastosis
  • {{MeshNumber|C16.320.565.202.765|Persistent+Hyperinsulinemia+Hypoglycemia+of+Infancy}} --- persistent hyperinsulinemia hypoglycemia of infancy
  • {{MeshNumber|C16.320.565.202.810|Pyruvate+Metabolism,+Inborn+Errors}} --- pyruvate metabolism, inborn errors
  • {{MeshNumber|C16.320.565.202.810.444|Leigh+Disease}} --- leigh disease
  • {{MeshNumber|C16.320.565.202.810.666|Pyruvate+Carboxylase+Deficiency+Disease}} --- pyruvate carboxylase deficiency disease
  • {{MeshNumber|C16.320.565.202.810.766|Pyruvate+Dehydrogenase+Complex+Deficiency+Disease}} --- pyruvate dehydrogenase complex deficiency disease
  • {{MeshNumber|C16.320.565.240|Cytochrome-c+Oxidase+Deficiency}} --- cytochrome-c oxidase deficiency
  • {{MeshNumber|C16.320.565.390|Glucosephosphate+Dehydrogenase+Deficiency}} --- glucosephosphate dehydrogenase deficiency
  • {{MeshNumber|C16.320.565.437|Hyperbilirubinemia,+Hereditary}} --- hyperbilirubinemia, hereditary
  • {{MeshNumber|C16.320.565.437.281|Crigler-Najjar+Syndrome}} --- crigler-najjar syndrome
  • {{MeshNumber|C16.320.565.437.528|Gilbert+Disease}} --- gilbert disease
  • {{MeshNumber|C16.320.565.499|Jaundice,+Chronic+Idiopathic}} --- jaundice, chronic idiopathic
  • {{MeshNumber|C16.320.565.556|Lipid+Metabolism,+Inborn+Errors}} --- lipid metabolism, inborn errors
  • {{MeshNumber|C16.320.565.556.475|Hypercholesterolemia,+Familial}} --- hypercholesterolemia, familial
  • {{MeshNumber|C16.320.565.556.480|Hyperlipidemia,+Familial+Combined}} --- hyperlipidemia, familial combined
  • {{MeshNumber|C16.320.565.556.480.390|Hypercholesterolemia,+Familial}} --- hypercholesterolemia, familial
  • {{MeshNumber|C16.320.565.556.480.395|Hyperlipoproteinemia+Type+IV}} --- hyperlipoproteinemia type iv
  • {{MeshNumber|C16.320.565.556.483|Hyperlipoproteinemia+Type+III}} --- hyperlipoproteinemia type iii
  • {{MeshNumber|C16.320.565.556.487|Hyperlipoproteinemia+Type+IV}} --- hyperlipoproteinemia type iv
  • {{MeshNumber|C16.320.565.556.493|Hyperlipoproteinemia+Type+V}} --- hyperlipoproteinemia type v
  • {{MeshNumber|C16.320.565.556.500|Hypolipoproteinemia}} --- hypolipoproteinemia
  • {{MeshNumber|C16.320.565.556.500.220|Abetalipoproteinemia}} --- abetalipoproteinemia
  • {{MeshNumber|C16.320.565.556.500.440|Hypobetalipoproteinemia}} --- hypobetalipoproteinemia
  • {{MeshNumber|C16.320.565.556.500.448|Lecithin+Acyltransferase+Deficiency}} --- lecithin acyltransferase deficiency
  • {{MeshNumber|C16.320.565.556.500.724|Tangier+Disease}} --- tangier disease
  • {{MeshNumber|C16.320.565.556.641|Lipoidosis}} --- lipoidosis
  • {{MeshNumber|C16.320.565.556.641.201|Cholesterol+Ester+Storage+Disease}} --- cholesterol ester storage disease
  • {{MeshNumber|C16.320.565.556.641.391|Lipoidproteinosis}} --- lipoidproteinosis
  • {{MeshNumber|C16.320.565.556.641.509|Neuronal+Ceroid-Lipofuscinosis}} --- neuronal ceroid-lipofuscinosis
  • {{MeshNumber|C16.320.565.556.641.643|Refsum+Disease}} --- refsum disease
  • {{MeshNumber|C16.320.565.556.641.723|Sjogren-Larsson+Syndrome}} --- sjogren-larsson syndrome
  • {{MeshNumber|C16.320.565.556.641.803|Sphingolipidoses}} --- sphingolipidoses
  • {{MeshNumber|C16.320.565.556.641.803.300|Fabry+Disease}} --- fabry disease
  • {{MeshNumber|C16.320.565.556.641.803.350|Gangliosidoses}} --- gangliosidoses
  • {{MeshNumber|C16.320.565.556.641.803.350.300|Gangliosidoses+GM2}} --- gangliosidoses gm2
  • {{MeshNumber|C16.320.565.556.641.803.350.300.700|Sandhoff+Disease}} --- sandhoff disease
  • {{MeshNumber|C16.320.565.556.641.803.350.300.850|Tay-Sachs+Disease}} --- tay-sachs disease
  • {{MeshNumber|C16.320.565.556.641.803.350.300.925|Tay-Sachs+Disease,+AB+Variant}} --- tay-sachs disease, ab variant
  • {{MeshNumber|C16.320.565.556.641.803.350.360|Gangliosidosis+GM1}} --- gangliosidosis gm1
  • {{MeshNumber|C16.320.565.556.641.803.441|Gaucher+Disease}} --- gaucher disease
  • {{MeshNumber|C16.320.565.556.641.803.585|Leukodystrophy,+Globoid+Cell}} --- leukodystrophy, globoid cell
  • {{MeshNumber|C16.320.565.556.641.803.594|Leukodystrophy,+Metachromatic}} --- leukodystrophy, metachromatic
  • {{MeshNumber|C16.320.565.556.641.803.730|Niemann-Pick+Diseases}} --- niemann-pick diseases
  • {{MeshNumber|C16.320.565.556.641.803.850|Sea-Blue+Histiocyte+Syndrome}} --- sea-blue histiocyte syndrome
  • {{MeshNumber|C16.320.565.556.641.923|Wolman+Disease}} --- wolman disease
  • {{MeshNumber|C16.320.565.556.645|Lipoprotein+Lipase+Deficiency,+Familial}} --- lipoprotein lipase deficiency, familial
  • {{MeshNumber|C16.320.565.556.750|Peroxisomal+Disorders}} --- peroxisomal disorders
  • {{MeshNumber|C16.320.565.556.750.025|Acatalasia}} --- acatalasia
  • {{MeshNumber|C16.320.565.556.750.112|Adrenoleukodystrophy}} --- adrenoleukodystrophy
  • {{MeshNumber|C16.320.565.556.750.200|Chondrodysplasia+Punctata,+Rhizomelic}} --- chondrodysplasia punctata, rhizomelic
  • {{MeshNumber|C16.320.565.556.750.760|Refsum+Disease}} --- refsum disease
  • {{MeshNumber|C16.320.565.556.750.970|Zellweger+Syndrome}} --- zellweger syndrome
  • {{MeshNumber|C16.320.565.556.850|Smith-Lemli-Opitz+Syndrome}} --- smith-lemli-opitz syndrome
  • {{MeshNumber|C16.320.565.556.925|Xanthomatosis,+Cerebrotendinous}} --- xanthomatosis, cerebrotendinous
  • {{MeshNumber|C16.320.565.580|Lysosomal+Storage+Diseases}} --- lysosomal storage diseases
  • {{MeshNumber|C16.320.565.580.201|Cholesterol+Ester+Storage+Disease}} --- cholesterol ester storage disease
  • {{MeshNumber|C16.320.565.580.554|Lysosomal+Storage+Diseases,+Nervous+System}} --- lysosomal storage diseases, nervous system
  • {{MeshNumber|C16.320.565.580.554.295|Fucosidosis}} --- fucosidosis
  • {{MeshNumber|C16.320.565.580.554.340|Glycogen+Storage+Disease+Type+II}} --- glycogen storage disease type ii
  • {{MeshNumber|C16.320.565.580.554.590|Mucolipidoses}} --- mucolipidoses
  • {{MeshNumber|C16.320.565.580.554.810|Sialic+Acid+Storage+Disease}} --- sialic acid storage disease
  • {{MeshNumber|C16.320.565.580.554.825|Sphingolipidoses}} --- sphingolipidoses
  • {{MeshNumber|C16.320.565.580.554.825.200|Fabry+Disease}} --- fabry disease
  • {{MeshNumber|C16.320.565.580.554.825.300|Gangliosidoses}} --- gangliosidoses
  • {{MeshNumber|C16.320.565.580.554.825.300.300|Gangliosidoses+GM2}} --- gangliosidoses gm2
  • {{MeshNumber|C16.320.565.580.554.825.300.300.800|Sandhoff+Disease}} --- sandhoff disease
  • {{MeshNumber|C16.320.565.580.554.825.300.300.840|Tay-Sachs+Disease}} --- tay-sachs disease
  • {{MeshNumber|C16.320.565.580.554.825.300.300.920|Tay-Sachs+Disease,+AB+Variant}} --- tay-sachs disease, ab variant
  • {{MeshNumber|C16.320.565.580.554.825.300.400|Gangliosidosis+GM1}} --- gangliosidosis gm1
  • {{MeshNumber|C16.320.565.580.554.825.400|Gaucher+Disease}} --- gaucher disease
  • {{MeshNumber|C16.320.565.580.554.825.590|Leukodystrophy,+Globoid+Cell}} --- leukodystrophy, globoid cell
  • {{MeshNumber|C16.320.565.580.554.825.594|Leukodystrophy,+Metachromatic}} --- leukodystrophy, metachromatic
  • {{MeshNumber|C16.320.565.580.554.825.700|Niemann-Pick+Diseases}} --- niemann-pick diseases
  • {{MeshNumber|C16.320.565.580.577|Mannosidase+Deficiency+Diseases}} --- mannosidase deficiency diseases
  • {{MeshNumber|C16.320.565.580.577.500|alpha-Mannosidosis}} --- alpha-mannosidosis
  • {{MeshNumber|C16.320.565.580.577.750|beta-Mannosidosis}} --- beta-mannosidosis
  • {{MeshNumber|C16.320.565.580.600|Mucopolysaccharidoses}} --- mucopolysaccharidoses
  • {{MeshNumber|C16.320.565.580.600.640|Mucopolysaccharidosis+I}} --- mucopolysaccharidosis i
  • {{MeshNumber|C16.320.565.580.600.645|Mucopolysaccharidosis+II}} --- mucopolysaccharidosis ii
  • {{MeshNumber|C16.320.565.580.600.650|Mucopolysaccharidosis+III}} --- mucopolysaccharidosis iii
  • {{MeshNumber|C16.320.565.580.600.655|Mucopolysaccharidosis+IV}} --- mucopolysaccharidosis iv
  • {{MeshNumber|C16.320.565.580.600.670|Mucopolysaccharidosis+VI}} --- mucopolysaccharidosis vi
  • {{MeshNumber|C16.320.565.580.600.675|Mucopolysaccharidosis+VII}} --- mucopolysaccharidosis vii
  • {{MeshNumber|C16.320.565.580.803|Sphingolipidoses}} --- sphingolipidoses
  • {{MeshNumber|C16.320.565.580.803.300|Fabry+Disease}} --- fabry disease
  • {{MeshNumber|C16.320.565.580.803.350|Gangliosidoses}} --- gangliosidoses
  • {{MeshNumber|C16.320.565.580.803.350.300|Gangliosidoses+GM2}} --- gangliosidoses gm2
  • {{MeshNumber|C16.320.565.580.803.350.300.700|Sandhoff+Disease}} --- sandhoff disease
  • {{MeshNumber|C16.320.565.580.803.350.300.850|Tay-Sachs+Disease}} --- tay-sachs disease
  • {{MeshNumber|C16.320.565.580.803.350.300.925|Tay-Sachs+Disease,+AB+Variant}} --- tay-sachs disease, ab variant
  • {{MeshNumber|C16.320.565.580.803.441|Gaucher+Disease}} --- gaucher disease
  • {{MeshNumber|C16.320.565.580.803.585|Leukodystrophy,+Globoid+Cell}} --- leukodystrophy, globoid cell
  • {{MeshNumber|C16.320.565.580.803.594|Leukodystrophy,+Metachromatic}} --- leukodystrophy, metachromatic
  • {{MeshNumber|C16.320.565.580.803.730|Niemann-Pick+Diseases}} --- niemann-pick diseases
  • {{MeshNumber|C16.320.565.580.803.850|Sea-Blue+Histiocyte+Syndrome}} --- sea-blue histiocyte syndrome
  • {{MeshNumber|C16.320.565.580.923|Wolman+Disease}} --- wolman disease
  • {{MeshNumber|C16.320.565.618|Metal+Metabolism,+Inborn+Errors}} --- metal metabolism, inborn errors
  • {{MeshNumber|C16.320.565.618.337|Hemochromatosis}} --- hemochromatosis
  • {{MeshNumber|C16.320.565.618.403|Hepatolenticular+Degeneration}} --- hepatolenticular degeneration
  • {{MeshNumber|C16.320.565.618.482|Hypophosphatasia}} --- hypophosphatasia
  • {{MeshNumber|C16.320.565.618.544|Hypophosphatemia,+Familial}} --- hypophosphatemia, familial
  • {{MeshNumber|C16.320.565.618.590|Menkes+Kinky+Hair+Syndrome}} --- menkes kinky hair syndrome
  • {{MeshNumber|C16.320.565.618.711|Paralyses,+Familial+Periodic}} --- paralyses, familial periodic
  • {{MeshNumber|C16.320.565.618.711.550|Hypokalemic+Periodic+Paralysis}} --- hypokalemic periodic paralysis
  • {{MeshNumber|C16.320.565.618.711.600|Paralysis,+Hyperkalemic+Periodic}} --- paralysis, hyperkalemic periodic
  • {{MeshNumber|C16.320.565.618.711.600.500|Andersen+Syndrome}} --- andersen syndrome
  • {{MeshNumber|C16.320.565.618.815|Pseudohypoparathyroidism}} --- pseudohypoparathyroidism
  • {{MeshNumber|C16.320.565.618.815.815|Pseudopseudohypoparathyroidism}} --- pseudopseudohypoparathyroidism
  • {{MeshNumber|C16.320.565.731|Porphyria,+Erythropoietic}} --- porphyria, erythropoietic
  • {{MeshNumber|C16.320.565.735|Porphyrias,+Hepatic}} --- porphyrias, hepatic
  • {{MeshNumber|C16.320.565.735.074|Coproporphyria,+Hereditary}} --- coproporphyria, hereditary
  • {{MeshNumber|C16.320.565.735.150|Porphyria,+Acute+Intermittent}} --- porphyria, acute intermittent
  • {{MeshNumber|C16.320.565.735.250|Porphyria+Cutanea+Tarda}} --- porphyria cutanea tarda
  • {{MeshNumber|C16.320.565.735.437|Porphyria,+Hepatoerythropoietic}} --- porphyria, hepatoerythropoietic
  • {{MeshNumber|C16.320.565.735.625|Porphyria,+Variegate}} --- porphyria, variegate
  • {{MeshNumber|C16.320.565.735.812|Protoporphyria,+Erythropoietic}} --- protoporphyria, erythropoietic
  • {{MeshNumber|C16.320.565.769|Progeria}} --- progeria
  • {{MeshNumber|C16.320.565.798|Purine-Pyrimidine+Metabolism,+Inborn+Errors}} --- purine-pyrimidine metabolism, inborn errors
  • {{MeshNumber|C16.320.565.798.368|Gout}} --- gout
  • {{MeshNumber|C16.320.565.798.368.410|Arthritis,+Gouty}} --- arthritis, gouty
  • {{MeshNumber|C16.320.565.798.594|Lesch-Nyhan+Syndrome}} --- lesch-nyhan syndrome
  • {{MeshNumber|C16.320.565.851|Renal+Tubular+Transport,+Inborn+Errors}} --- renal tubular transport, inborn errors
  • {{MeshNumber|C16.320.565.851.093|Acidosis,+Renal+Tubular}} --- acidosis, renal tubular
  • {{MeshNumber|C16.320.565.851.191|Aminoaciduria,+Renal}} --- aminoaciduria, renal
  • {{MeshNumber|C16.320.565.851.191.250|Cystinuria}} --- cystinuria
  • {{MeshNumber|C16.320.565.851.191.457|Hartnup+Disease}} --- hartnup disease
  • {{MeshNumber|C16.320.565.851.368|Cystinosis}} --- cystinosis
  • {{MeshNumber|C16.320.565.851.368.210|Fanconi+Syndrome}} --- fanconi syndrome
  • {{MeshNumber|C16.320.565.851.532|Glycosuria,+Renal}} --- glycosuria, renal
  • {{MeshNumber|C16.320.565.851.647|Hypophosphatemia,+Familial}} --- hypophosphatemia, familial
  • {{MeshNumber|C16.320.565.851.750|Oculocerebrorenal+Syndrome}} --- oculocerebrorenal syndrome
  • {{MeshNumber|C16.320.565.851.770|Pseudohypoaldosteronism}} --- pseudohypoaldosteronism
  • {{MeshNumber|C16.320.565.925|Steroid+Metabolism,+Inborn+Errors}} --- steroid metabolism, inborn errors
  • {{MeshNumber|C16.320.565.925.249|Adrenal+Hyperplasia,+Congenital}} --- adrenal hyperplasia, congenital
  • {{MeshNumber|C16.320.565.925.500|Mineralocorticoid+Excess+Syndrome,+Apparent}} --- mineralocorticoid excess syndrome, apparent
  • {{MeshNumber|C16.320.565.925.750|Ichthyosis,+X-Linked}} --- ichthyosis, x-linked
  • {{MeshNumber|C16.320.565.925.875|Smith-Lemli-Opitz+Syndrome}} --- smith-lemli-opitz syndrome

{{MeshNumber|C16.320.577|Muscular+Dystrophies}} --- muscular dystrophies

  • {{MeshNumber|C16.320.577.074|Distal+Myopathies}} --- distal myopathies
  • {{MeshNumber|C16.320.577.149|Glycogen+Storage+Disease+Type+VII}} --- glycogen storage disease type vii
  • {{MeshNumber|C16.320.577.280|Muscular+Dystrophies,+Limb-Girdle}} --- muscular dystrophies, limb-girdle
  • {{MeshNumber|C16.320.577.300|Muscular+Dystrophy,+Duchenne}} --- muscular dystrophy, duchenne
  • {{MeshNumber|C16.320.577.350|Muscular+Dystrophy,+Emery-Dreifuss}} --- muscular dystrophy, emery-dreifuss
  • {{MeshNumber|C16.320.577.400|Muscular+Dystrophy,+Facioscapulohumeral}} --- muscular dystrophy, facioscapulohumeral
  • {{MeshNumber|C16.320.577.450|Muscular+Dystrophy,+Oculopharyngeal}} --- muscular dystrophy, oculopharyngeal
  • {{MeshNumber|C16.320.577.500|Myotonic+Dystrophy}} --- myotonic dystrophy

{{MeshNumber|C16.320.590|Myasthenic+Syndromes,+Congenital}} --- myasthenic syndromes, congenital

{{MeshNumber|C16.320.600|Nail-Patella+Syndrome}} --- nail-patella syndrome

{{MeshNumber|C16.320.700|Neoplastic+Syndromes,+Hereditary}} --- neoplastic syndromes, hereditary

  • {{MeshNumber|C16.320.700.100|Adenomatous+Polyposis+Coli}} --- adenomatous polyposis coli
  • {{MeshNumber|C16.320.700.100.393|Gardner+Syndrome}} --- gardner syndrome
  • {{MeshNumber|C16.320.700.175|Basal+Cell+Nevus+Syndrome}} --- basal cell nevus syndrome
  • {{MeshNumber|C16.320.700.250|Colorectal+Neoplasms,+Hereditary+Nonpolyposis}} --- colorectal neoplasms, hereditary nonpolyposis
  • {{MeshNumber|C16.320.700.305|Dysplastic+Nevus+Syndrome}} --- dysplastic nevus syndrome
  • {{MeshNumber|C16.320.700.330|Exostoses,+Multiple+Hereditary}} --- exostoses, multiple hereditary
  • {{MeshNumber|C16.320.700.435|Hamartoma+Syndrome,+Multiple}} --- hamartoma syndrome, multiple
  • {{MeshNumber|C16.320.700.600|Li-Fraumeni+Syndrome}} --- li-fraumeni syndrome
  • {{MeshNumber|C16.320.700.630|Multiple+Endocrine+Neoplasia}} --- multiple endocrine neoplasia
  • {{MeshNumber|C16.320.700.630.500|Multiple+Endocrine+Neoplasia+Type+1}} --- multiple endocrine neoplasia type 1
  • {{MeshNumber|C16.320.700.630.505|Multiple+Endocrine+Neoplasia+Type+2a}} --- multiple endocrine neoplasia type 2a
  • {{MeshNumber|C16.320.700.630.510|Multiple+Endocrine+Neoplasia+Type+2b}} --- multiple endocrine neoplasia type 2b
  • {{MeshNumber|C16.320.700.642|Wilms+Tumor}} --- wilms tumor
  • {{MeshNumber|C16.320.700.642.220|Denys-Drash+Syndrome}} --- denys-drash syndrome
  • {{MeshNumber|C16.320.700.642.950|WAGR+Syndrome}} --- wagr syndrome
  • {{MeshNumber|C16.320.700.645|Neurofibromatoses}} --- Neurofibromatosis
  • {{MeshNumber|C16.320.700.645.650|Neurofibromatosis+1}} --- neurofibromatosis 1
  • {{MeshNumber|C16.320.700.645.655|Neurofibromatosis+2}} --- neurofibromatosis 2
  • {{MeshNumber|C16.320.700.705|Peutz-Jeghers+Syndrome}} --- peutz-jeghers syndrome
  • {{MeshNumber|C16.320.700.852|Sturge-Weber+Syndrome}} --- sturge-weber syndrome

{{MeshNumber|C16.320.737|Osteogenesis+Imperfecta}} --- osteogenesis imperfecta

{{MeshNumber|C16.320.775|Pain+Insensitivity,+Congenital}} --- pain insensitivity, congenital

{{MeshNumber|C16.320.800|Romano-Ward+Syndrome}} --- romano-ward syndrome

{{MeshNumber|C16.320.850|Skin+Diseases,+Genetic}} --- skin diseases, genetic

  • {{MeshNumber|C16.320.850.080|Albinism}} --- albinism
  • {{MeshNumber|C16.320.850.080.090|Albinism,+Ocular}} --- albinism, ocular
  • {{MeshNumber|C16.320.850.080.100|Albinism,+Oculocutaneous}} --- albinism, oculocutaneous
  • {{MeshNumber|C16.320.850.080.100.400|Hermanski-Pudlak+Syndrome}} --- hermanski-pudlak syndrome
  • {{MeshNumber|C16.320.850.080.600|Piebaldism}} --- piebaldism
  • {{MeshNumber|C16.320.850.180|Cutis+Laxa}} --- cutis laxa
  • {{MeshNumber|C16.320.850.210|Dermatitis,+Atopic}} --- dermatitis, atopic
  • {{MeshNumber|C16.320.850.235|Dyskeratosis+Congenita}} --- dyskeratosis congenita
  • {{MeshNumber|C16.320.850.250|Ectodermal+Dysplasia}} --- ectodermal dysplasia
  • {{MeshNumber|C16.320.850.250.398|Ellis-Van+Creveld+Syndrome}} --- ellis-van creveld syndrome
  • {{MeshNumber|C16.320.850.250.424|Focal+Dermal+Hypoplasia}} --- focal dermal hypoplasia
  • {{MeshNumber|C16.320.850.250.712|Neurocutaneous+Syndromes}} --- neurocutaneous syndromes
  • {{MeshNumber|C16.320.850.260|Ehlers-Danlos+Syndrome}} --- ehlers-danlos syndrome
  • {{MeshNumber|C16.320.850.275|Epidermolysis+Bullosa}} --- epidermolysis bullosa
  • {{MeshNumber|C16.320.850.275.160|Epidermolysis+Bullosa+Dystrophica}} --- epidermolysis bullosa dystrophica
  • {{MeshNumber|C16.320.850.275.170|Epidermolysis+Bullosa,+Junctional}} --- epidermolysis bullosa, junctional
  • {{MeshNumber|C16.320.850.275.180|Epidermolysis+Bullosa+Simplex}} --- epidermolysis bullosa simplex
  • {{MeshNumber|C16.320.850.400|Ichthyosiform+Erythroderma,+Congenital}} --- ichthyosiform erythroderma, congenital
  • {{MeshNumber|C16.320.850.400.375|Hyperkeratosis,+Epidermolytic}} --- hyperkeratosis, epidermolytic
  • {{MeshNumber|C16.320.850.400.410|Ichthyosis,+Lamellar}} --- ichthyosis, lamellar
  • {{MeshNumber|C16.320.850.405|Ichthyosis+Vulgaris}} --- ichthyosis vulgaris
  • {{MeshNumber|C16.320.850.408|Ichthyosis,+X-Linked}} --- ichthyosis, x-linked
  • {{MeshNumber|C16.320.850.420|Incontinentia+Pigmenti}} --- incontinentia pigmenti
  • {{MeshNumber|C16.320.850.475|Keratoderma,+Palmoplantar}} --- keratoderma, palmoplantar
  • {{MeshNumber|C16.320.850.475.440|Keratoderma,+Palmoplantar,+Diffuse}} --- keratoderma, palmoplantar, diffuse
  • {{MeshNumber|C16.320.850.475.600|Papillon-Lefevre+Disease}} --- papillon-lefevre disease
  • {{MeshNumber|C16.320.850.490|Keratosis+Follicularis}} --- keratosis follicularis
  • {{MeshNumber|C16.320.850.700|Pemphigus,+Benign+Familial}} --- pemphigus, benign familial
  • {{MeshNumber|C16.320.850.730|Porokeratosis}} --- porokeratosis
  • {{MeshNumber|C16.320.850.738|Porphyria,+Erythropoietic}} --- porphyria, erythropoietic
  • {{MeshNumber|C16.320.850.742|Porphyrias,+Hepatic}} --- porphyrias, hepatic
  • {{MeshNumber|C16.320.850.742.074|Coproporphyria,+Hereditary}} --- coproporphyria, hereditary
  • {{MeshNumber|C16.320.850.742.150|Porphyria,+Acute+Intermittent}} --- porphyria, acute intermittent
  • {{MeshNumber|C16.320.850.742.250|Porphyria+Cutanea+Tarda}} --- porphyria cutanea tarda
  • {{MeshNumber|C16.320.850.742.437|Porphyria,+Hepatoerythropoietic}} --- porphyria, hepatoerythropoietic
  • {{MeshNumber|C16.320.850.742.625|Porphyria,+Variegate}} --- porphyria, variegate
  • {{MeshNumber|C16.320.850.742.812|Protoporphyria,+Erythropoietic}} --- protoporphyria, erythropoietic
  • {{MeshNumber|C16.320.850.750|Pseudoxanthoma+Elasticum}} --- pseudoxanthoma elasticum
  • {{MeshNumber|C16.320.850.765|Rothmund-Thomson+Syndrome}} --- rothmund-thomson syndrome
  • {{MeshNumber|C16.320.850.820|Sjogren-Larsson+Syndrome}} --- sjogren-larsson syndrome
  • {{MeshNumber|C16.320.850.970|Xeroderma+Pigmentosum}} --- xeroderma pigmentosum

{{MeshNumber|C16.320.925|Werner+Syndrome}} --- werner syndrome

{{MeshNumber|C16.614|Infant,+Newborn,+Diseases}} --- infant, newborn, diseases

{{MeshNumber|C16.614.042|Amniotic+Band+Syndrome}} --- amniotic band syndrome

{{MeshNumber|C16.614.053|Anemia,+Neonatal}} --- anemia, neonatal

  • {{MeshNumber|C16.614.053.344|Fetofetal+Transfusion}} --- fetofetal transfusion
  • {{MeshNumber|C16.614.053.511|Fetomaternal+Transfusion}} --- fetomaternal transfusion

{{MeshNumber|C16.614.092|Asphyxia+Neonatorum}} --- asphyxia neonatorum

{{MeshNumber|C16.614.131|Birth+Injuries}} --- birth injuries

  • {{MeshNumber|C16.614.131.587|Paralysis,+Obstetric}} --- paralysis, obstetric

{{MeshNumber|C16.614.213|Cystic+Fibrosis}} --- cystic fibrosis

{{MeshNumber|C16.614.258|Epilepsy,+Benign+Neonatal}} --- epilepsy, benign neonatal

{{MeshNumber|C16.614.304|Erythroblastosis,+Fetal}} --- erythroblastosis, fetal

  • {{MeshNumber|C16.614.304.502|Kernicterus}} --- kernicterus

{{MeshNumber|C16.614.378|Hemorrhagic+Disease+of+Newborn}} --- hemorrhagic disease of newborn

{{MeshNumber|C16.614.390|Hernia,+Umbilical}} --- hernia, umbilical

{{MeshNumber|C16.614.414|Hydrocephalus}} --- hydrocephalus

  • {{MeshNumber|C16.614.414.200|Dandy-Walker+Syndrome}} --- dandy-walker syndrome

{{MeshNumber|C16.614.438|Hydrophthalmos}} --- hydrophthalmos

{{MeshNumber|C16.614.451|Hyperbilirubinemia,+Neonatal}} --- hyperbilirubinemia, neonatal

  • {{MeshNumber|C16.614.451.500|Jaundice,+Neonatal}} --- jaundice, neonatal
  • {{MeshNumber|C16.614.451.500.250|Jaundice,+Chronic+Idiopathic}} --- jaundice, chronic idiopathic

{{MeshNumber|C16.614.465|Hyperostosis,+Cortical,+Congenital}} --- hyperostosis, cortical, congenital

{{MeshNumber|C16.614.492|Ichthyosis}} --- ichthyosis

  • {{MeshNumber|C16.614.492.400|Ichthyosiform+Erythroderma,+Congenital}} --- ichthyosiform erythroderma, congenital
  • {{MeshNumber|C16.614.492.400.375|Hyperkeratosis,+Epidermolytic}} --- hyperkeratosis, epidermolytic
  • {{MeshNumber|C16.614.492.400.410|Ichthyosis,+Lamellar}} --- ichthyosis, lamellar
  • {{MeshNumber|C16.614.492.420|Ichthyosis,+X-Linked}} --- ichthyosis, x-linked
  • {{MeshNumber|C16.614.492.723|Sjogren-Larsson+Syndrome}} --- sjogren-larsson syndrome

{{MeshNumber|C16.614.521|Infant,+Premature,+Diseases}} --- infant, premature, diseases

  • {{MeshNumber|C16.614.521.125|Bronchopulmonary+Dysplasia}} --- bronchopulmonary dysplasia
  • {{MeshNumber|C16.614.521.450|Leukomalacia,+Periventricular}} --- leukomalacia, periventricular
  • {{MeshNumber|C16.614.521.563|Respiratory+Distress+Syndrome,+Newborn}} --- respiratory distress syndrome, newborn
  • {{MeshNumber|C16.614.521.563.475|Hyaline+Membrane+Disease}} --- hyaline membrane disease
  • {{MeshNumber|C16.614.521.731|Retinopathy+of+Prematurity}} --- retinopathy of prematurity

{{MeshNumber|C16.614.580|Meconium+Aspiration+Syndrome}} --- meconium aspiration syndrome

{{MeshNumber|C16.614.595|Mobius+Syndrome}} --- mobius syndrome

{{MeshNumber|C16.614.610|Neonatal+Abstinence+Syndrome}} --- neonatal abstinence syndrome

{{MeshNumber|C16.614.643|Nystagmus,+Congenital}} --- nystagmus, congenital

{{MeshNumber|C16.614.677|Ophthalmia+Neonatorum}} --- ophthalmia neonatorum

{{MeshNumber|C16.614.694|Persistent+Fetal+Circulation+Syndrome}} --- persistent fetal circulation syndrome

{{MeshNumber|C16.614.716|Persistent+Hyperinsulinemia+Hypoglycemia+of+Infancy}} --- persistent hyperinsulinemia hypoglycemia of infancy

{{MeshNumber|C16.614.760|Rothmund-Thomson+Syndrome}} --- rothmund-thomson syndrome

{{MeshNumber|C16.614.810|Sclerema+Neonatorum}} --- sclerema neonatorum

{{MeshNumber|C16.614.815|Severe+Combined+Immunodeficiency}} --- severe combined immunodeficiency

{{MeshNumber|C16.614.868|Syphilis,+Congenital}} --- syphilis, congenital

{{MeshNumber|C16.614.890|Thanatophoric+Dysplasia}} --- thanatophoric dysplasia

{{MeshNumber|C16.614.909|Toxoplasmosis,+Congenital}} --- toxoplasmosis, congenital

{{MeshNumber|C16.614.947|Wolman+Disease}} --- wolman disease

1 : Medical Subject Headings

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