MeSH Tree Structures - 2008

C16 - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
  • Congenital Abnormalities [C16.131]
    • Abnormalities, Drug-Induced [C16.131.042]
    • Abnormalities, Multiple [C16.131.077]
      • Alagille Syndrome [C16.131.077.065]
      • Angelman Syndrome [C16.131.077.095]
      • Bardet-Biedl Syndrome [C16.131.077.112]
      • Basal Cell Nevus Syndrome [C16.131.077.130]
      • Beckwith-Wiedemann Syndrome [C16.131.077.133]
      • Bloom Syndrome [C16.131.077.137]
      • Branchio-Oto-Renal Syndrome [C16.131.077.208]
      • Cockayne Syndrome [C16.131.077.250]
      • Cri-du-Chat Syndrome [C16.131.077.262]
      • De Lange Syndrome [C16.131.077.272]
      • Deaf-Blind Disorders [C16.131.077.299]
        • Usher Syndromes [C16.131.077.299.500]
        • Wolfram Syndrome [C16.131.077.299.750]
      • Down Syndrome [C16.131.077.327]
      • Ectodermal Dysplasia [C16.131.077.350]
        • Ectodermal Dysplasia 1, Anhidrotic [C16.131.077.350.198]
        • Ectodermal Dysplasia 3, Anhidrotic [C16.131.077.350.298]
        • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.131.077.350.348]
        • Ellis-Van Creveld Syndrome [C16.131.077.350.398]
        • Focal Dermal Hypoplasia [C16.131.077.350.424]
        • Neurocutaneous Syndromes [C16.131.077.350.712]
      • Gardner Syndrome [C16.131.077.393]
      • Holoprosencephaly [C16.131.077.410]
      • Incontinentia Pigmenti [C16.131.077.445]
      • Laurence-Moon Syndrome [C16.131.077.509]
      • LEOPARD Syndrome [C16.131.077.525]
      • Marfan Syndrome [C16.131.077.550]
      • Mobius Syndrome [C16.131.077.578]
      • Nail-Patella Syndrome [C16.131.077.606]
      • Nevus Sebaceous of Jadassohn [C16.131.077.633]
      • Oculocerebrorenal Syndrome [C16.131.077.661]
      • Orofaciodigital Syndromes [C16.131.077.677]
      • POEMS Syndrome [C16.131.077.703]
      • Prader-Willi Syndrome [C16.131.077.730]
      • Proteus Syndrome [C16.131.077.740]
      • Prune Belly Syndrome [C16.131.077.745]
      • Rubella Syndrome, Congenital [C16.131.077.790]
      • Rubinstein-Taybi Syndrome [C16.131.077.804]
      • Short Rib-Polydactyly Syndrome [C16.131.077.850]
      • Smith-Lemli-Opitz Syndrome [C16.131.077.860]
      • Trichothiodystrophy Syndromes [C16.131.077.899]
      • Waardenburg's Syndrome [C16.131.077.938]
      • Wolf-Hirschhorn Syndrome [C16.131.077.944]
      • Wolfram Syndrome [C16.131.077.951]
      • Zellweger Syndrome [C16.131.077.970]
    • Abnormalities, Radiation-Induced [C16.131.080]
    • Cardiovascular Abnormalities [C16.131.240]
      • Heart Defects, Congenital [C16.131.240.400]
        • Alagille Syndrome [C16.131.240.400.044]
        • Aortic Coarctation [C16.131.240.400.090]
        • Arrhythmogenic Right Ventricular Dysplasia [C16.131.240.400.145]
        • Cor Triatriatum [C16.131.240.400.200]
        • Coronary Vessel Anomalies [C16.131.240.400.210]
          • Myocardial Bridging [C16.131.240.400.210.500]
        • Crisscross Heart [C16.131.240.400.220]
        • Dextrocardia [C16.131.240.400.280]
          • Kartagener Syndrome [C16.131.240.400.280.500]
        • Ductus Arteriosus, Patent [C16.131.240.400.340]
        • Ebstein Anomaly [C16.131.240.400.395]
        • Ectopia Cordis [C16.131.240.400.422]
        • Eisenmenger Complex [C16.131.240.400.450]
        • Heart Septal Defects [C16.131.240.400.560]
          • Aortopulmonary Septal Defect [C16.131.240.400.560.098]
            • Truncus Arteriosus, Persistent [C16.131.240.400.560.098.500]
          • Endocardial Cushion Defects [C16.131.240.400.560.350]
          • Heart Septal Defects, Atrial [C16.131.240.400.560.375]
            • Foramen Ovale, Patent [C16.131.240.400.560.375.258]
            • Lutembacher Syndrome [C16.131.240.400.560.375.518]
          • Heart Septal Defects, Ventricular [C16.131.240.400.560.540]
        • Hypoplastic Left Heart Syndrome [C16.131.240.400.625]
        • LEOPARD Syndrome [C16.131.240.400.685]
        • Levocardia [C16.131.240.400.701]
        • Long QT Syndrome [C16.131.240.400.715]
          • Andersen Syndrome [C16.131.240.400.715.070]
          • Jervell-Lange Nielsen Syndrome [C16.131.240.400.715.440]
          • Romano-Ward Syndrome [C16.131.240.400.715.720]
        • Marfan Syndrome [C16.131.240.400.720]
        • Tetralogy of Fallot [C16.131.240.400.849]
        • Transposition of Great Vessels [C16.131.240.400.915]
          • Double Outlet Right Ventricle [C16.131.240.400.915.300]
        • Tricuspid Atresia [C16.131.240.400.920]
        • Trilogy of Fallot [C16.131.240.400.960]
        • Wolff-Parkinson-White Syndrome [C16.131.240.400.980]
      • Vascular Malformations [C16.131.240.850]
        • Arterio-Arterial Fistula [C16.131.240.850.500]
        • Arteriovenous Malformations [C16.131.240.850.750]
          • Arteriovenous Fistula [C16.131.240.850.750.125]
          • Intracranial Arteriovenous Malformations [C16.131.240.850.750.295]
            • Vein of Galen Malformations [C16.131.240.850.750.295.500]
        • Central Nervous System Vascular Malformations [C16.131.240.850.875]
          • Intracranial Arteriovenous Malformations [C16.131.240.850.875.500]
            • Vein of Galen Malformations [C16.131.240.850.875.500.500]
        • Pulmonary Atresia [C16.131.240.850.906]
        • Scimitar Syndrome [C16.131.240.850.937]
        • Telangiectasia, Hereditary Hemorrhagic [C16.131.240.850.968]
    • Chromosome Disorders [C16.131.260]
      • Angelman Syndrome [C16.131.260.040]
      • Beckwith-Wiedemann Syndrome [C16.131.260.080]
      • Branchio-Oto-Renal Syndrome [C16.131.260.090]
      • Cri-du-Chat Syndrome [C16.131.260.190]
      • De Lange Syndrome [C16.131.260.210]
      • Down Syndrome [C16.131.260.260]
      • Holoprosencephaly [C16.131.260.380]
      • Jacobsen Distal 11q Deletion Syndrome [C16.131.260.440]
      • Prader-Willi Syndrome [C16.131.260.700]
      • Rubinstein-Taybi Syndrome [C16.131.260.790]
      • Sex Chromosome Disorders [C16.131.260.800]
        • Fragile X Syndrome [C16.131.260.800.300]
        • Gonadal Dysgenesis, 46,XY [C16.131.260.800.340]
        • Gonadal Dysgenesis, Mixed [C16.131.260.800.345]
        • Klinefelter Syndrome [C16.131.260.800.490]
        • Orofaciodigital Syndromes [C16.131.260.800.670]
        • Turner Syndrome [C16.131.260.800.870]
      • WAGR Syndrome [C16.131.260.940]
      • Williams Syndrome [C16.131.260.970]
      • Wolf-Hirchhorn Syndrome [C16.131.260.985]
    • DiGeorge Syndrome [C16.131.300]
    • Digestive System Abnormalities [C16.131.314]
      • Anus, Imperforate [C16.131.314.094]
      • Biliary Atresia [C16.131.314.125]
      • Choledochal Cyst [C16.131.314.184]
        • Caroli Disease [C16.131.314.184.500]
      • Diaphragmatic Eventration [C16.131.314.244]
      • Esophageal Atresia [C16.131.314.330]
      • Hirschsprung Disease [C16.131.314.439]
      • Intestinal Atresia [C16.131.314.466]
      • Meckel Diverticulum [C16.131.314.556]
    • Eye Abnormalities [C16.131.384]
      • Aniridia [C16.131.384.079]
        • WAGR Syndrome [C16.131.384.079.950]
      • Anophthalmos [C16.131.384.159]
      • Blepharophimosis [C16.131.384.190]
      • Coloboma [C16.131.384.282]
      • Ectopia Lentis [C16.131.384.405]
      • Hydrophthalmos [C16.131.384.480]
      • Microphthalmos [C16.131.384.666]
      • Persistent Hyperplastic Primary Vitreous [C16.131.384.725]
      • Retinal Dysplasia [C16.131.384.784]
    • Lymphatic Abnormalities [C16.131.482]
      • Lymphangiectasis, Intestinal [C16.131.482.500]
    • Monsters [C16.131.581]
      • Anencephaly [C16.131.581.197]
      • Twins, Conjoined [C16.131.581.806]
    • Musculoskeletal Abnormalities [C16.131.621]
      • Arthrogryposis [C16.131.621.077]
      • Craniofacial Abnormalities [C16.131.621.207]
        • Cleidocranial Dysplasia [C16.131.621.207.207]
        • Craniofacial Dysostosis [C16.131.621.207.231]
          • Hallermann's Syndrome [C16.131.621.207.231.427]
          • Hypertelorism [C16.131.621.207.231.480]
          • Mandibulofacial Dysostosis [C16.131.621.207.231.576]
            • Goldenhar Syndrome [C16.131.621.207.231.576.410]
        • Craniosynostoses [C16.131.621.207.240]
          • Acrocephalosyndactylia [C16.131.621.207.240.100]
        • Holoprosencephaly [C16.131.621.207.410]
        • LEOPARD Syndrome [C16.131.621.207.525]
        • Maxillofacial Abnormalities [C16.131.621.207.540]
          • Cherubism [C16.131.621.207.540.170]
          • Jaw Abnormalities [C16.131.621.207.540.460]
            • Cleft Palate [C16.131.621.207.540.460.185]
            • Micrognathism [C16.131.621.207.540.460.457]
            • Pierre Robin Syndrome [C16.131.621.207.540.460.606]
            • Prognathism [C16.131.621.207.540.460.655]
            • Retrognathism [C16.131.621.207.540.460.813]
        • Microcephaly [C16.131.621.207.620]
        • Noonan Syndrome [C16.131.621.207.690]
        • Orofaciodigital Syndromes [C16.131.621.207.700]
        • Plagiocephaly, Nonsynostotic [C16.131.621.207.715]
        • Platybasia [C16.131.621.207.720]
        • Rubinstein-Taybi Syndrome [C16.131.621.207.850]
      • Funnel Chest [C16.131.621.386]
      • Gastroschisis [C16.131.621.417]
      • Hajdu-Cheney Syndrome [C16.131.621.445]
      • Hip Dislocation, Congenital [C16.131.621.449]
      • Klippel-Feil Syndrome [C16.131.621.551]
      • Limb Deformities, Congenital [C16.131.621.585]
        • Arachnodactyly [C16.131.621.585.174]
        • Ectromelia [C16.131.621.585.350]
        • Foot Deformities, Congenital [C16.131.621.585.380]
        • Hand Deformities, Congenital [C16.131.621.585.425]
        • Lower Extremity Deformities, Congenital [C16.131.621.585.512]
        • Polydactyly [C16.131.621.585.600]
          • Short Rib-Polydactyly Syndrome [C16.131.621.585.600.750]
        • Proteus Syndrome [C16.131.621.585.620]
        • Syndactyly [C16.131.621.585.800]
          • Acrocephalosyndactylia [C16.131.621.585.800.100]
          • Poland Syndrome [C16.131.621.585.800.756]
        • Thanatophoric Dysplasia [C16.131.621.585.984]
        • Upper Extremity Deformities, Congenital [C16.131.621.585.988]
      • Synostosis [C16.131.621.906]
        • Craniosynostoses [C16.131.621.906.364]
          • Acrocephalosyndactylia [C16.131.621.906.364.100]
        • Syndactyly [C16.131.621.906.819]
          • Acrocephalosyndactylia [C16.131.621.906.819.100]
          • Poland Syndrome [C16.131.621.906.819.756]
    • Nervous System Malformations [C16.131.666]
      • Central Nervous System Cysts [C16.131.666.142]
        • Arachnoid Cysts [C16.131.666.142.100]
      • Central Nervous System Vascular Malformations [C16.131.666.190]
        • Central Nervous System Venous Angioma [C16.131.666.190.100]
        • Hemangioma, Cavernous, Central Nervous System [C16.131.666.190.200]
        • Intracranial Arteriovenous Malformations [C16.131.666.190.500]
          • Vein of Galen Malformations [C16.131.666.190.500.500]
        • Sinus Pericranii [C16.131.666.190.800]
      • Dandy-Walker Syndrome [C16.131.666.205]
      • Hereditary Motor and Sensory Neuropathies [C16.131.666.300]
        • Charcot-Marie-Tooth Disease [C16.131.666.300.200]
        • Refsum Disease [C16.131.666.300.780]
        • Spastic Paraplegia, Hereditary [C16.131.666.300.820]
      • Hereditary Sensory and Autonomic Neuropathies [C16.131.666.310]
        • Dysautonomia, Familial [C16.131.666.310.309]
      • Holoprosencephaly [C16.131.666.410]
      • Hydranencephaly [C16.131.666.450]
      • Malformations of Cortical Development [C16.131.666.507]
        • Lissencephaly [C16.131.666.507.186]
          • Classical Lissencephalies and Subcortical Band Heterotopias [C16.131.666.507.186.230]
          • Cobblestone Lissencephaly [C16.131.666.507.186.249]
        • Microcephaly [C16.131.666.507.500]
        • Neuronal Migration Disorders [C16.131.666.507.812]
          • Classical Lissencephalies and Subcortical Band Heterotopias [C16.131.666.507.812.230]
          • Cobblestone Lissencephaly [C16.131.666.507.812.249]
          • Periventricular Nodular Heterotopia [C16.131.666.507.812.750]
        • Tuberous Sclerosis [C16.131.666.507.875]
      • Neural Tube Defects [C16.131.666.680]
        • Anencephaly [C16.131.666.680.196]
        • Arnold-Chiari Malformation [C16.131.666.680.291]
        • Encephalocele [C16.131.666.680.488]
        • Meningocele [C16.131.666.680.598]
        • Meningomyelocele [C16.131.666.680.610]
        • Spinal Dysraphism [C16.131.666.680.800]
          • Spina Bifida Cystica [C16.131.666.680.800.730]
          • Spina Bifida Occulta [C16.131.666.680.800.750]
      • Septo-Optic Dysplasia [C16.131.666.845]
    • Respiratory System Abnormalities [C16.131.740]
      • Bronchogenic Cyst [C16.131.740.195]
      • Bronchopulmonary Sequestration [C16.131.740.214]
      • Choanal Atresia [C16.131.740.271]
      • Cystic Adenomatoid Malformation of Lung, Congenital [C16.131.740.290]
      • Kartagener Syndrome [C16.131.740.501]
      • Scimitar Syndrome [C16.131.740.815]
      • Tracheobronchomegaly [C16.131.740.830]
    • Situs Inversus [C16.131.810]
      • Dextrocardia [C16.131.810.250]
        • Kartagener Syndrome [C16.131.810.250.500]
      • Levocardia [C16.131.810.700]
    • Skin Abnormalities [C16.131.831]
      • Acrodermatitis [C16.131.831.066]
      • Dyskeratosis Congenita [C16.131.831.150]
      • Ectodermal Dysplasia [C16.131.831.350]
        • Ectodermal Dysplasia 1, Anhidrotic [C16.131.831.350.198]
        • Ectodermal Dysplasia 3, Anhidrotic [C16.131.831.350.298]
        • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.131.831.350.348]
        • Ellis-Van Creveld Syndrome [C16.131.831.350.398]
        • Focal Dermal Hypoplasia [C16.131.831.350.424]
        • Neurocutaneous Syndromes [C16.131.831.350.712]
        • Pachyonychia Congenita [C16.131.831.350.856]
      • Ehlers-Danlos Syndrome [C16.131.831.428]
      • Epidermolysis Bullosa [C16.131.831.493]
        • Epidermolysis Bullosa Acquisita [C16.131.831.493.080]
        • Epidermolysis Bullosa Dystrophica [C16.131.831.493.160]
        • Epidermolysis Bullosa, Junctional [C16.131.831.493.170]
        • Epidermolysis Bullosa Simplex [C16.131.831.493.180]
      • Ichthyosis [C16.131.831.512]
        • Ichthyosiform Erythroderma, Congenital [C16.131.831.512.400]
          • Hyperkeratosis, Epidermolytic [C16.131.831.512.400.375]
          • Ichthyosis, Lamellar [C16.131.831.512.400.410]
        • Ichthyosis Bullosa of Siemens [C16.131.831.512.408]
        • Ichthyosis Vulgaris [C16.131.831.512.410]
        • Ichthyosis, X-Linked [C16.131.831.512.420]
        • Sjogren-Larsson Syndrome [C16.131.831.512.723]
      • Incontinentia Pigmenti [C16.131.831.580]
      • Port-Wine Stain [C16.131.831.675]
      • Pseudoxanthoma Elasticum [C16.131.831.766]
      • Rothmund-Thomson Syndrome [C16.131.831.775]
      • Sclerema Neonatorum [C16.131.831.812]
      • Trichothiodystrophy Syndromes [C16.131.831.874]
      • Xeroderma Pigmentosum [C16.131.831.936]
    • Stomatognathic System Abnormalities [C16.131.850]
      • Maxillofacial Abnormalities [C16.131.850.500]
        • Jaw Abnormalities [C16.131.850.500.460]
          • Cleft Palate [C16.131.850.500.460.185]
          • Micrognathism [C16.131.850.500.460.457]
          • Pierre Robin Syndrome [C16.131.850.500.460.606]
          • Prognathism [C16.131.850.500.460.655]
          • Retrognathism [C16.131.850.500.460.813]
      • Mouth Abnormalities [C16.131.850.525]
        • Cleft Lip [C16.131.850.525.164]
        • Cleft Palate [C16.131.850.525.185]
        • Fibromatosis, Gingival [C16.131.850.525.304]
        • Macrostomia [C16.131.850.525.480]
        • Microstomia [C16.131.850.525.520]
        • Velopharyngeal Insufficiency [C16.131.850.525.955]
      • Tooth Abnormalities [C16.131.850.800]
        • Amelogenesis Imperfecta [C16.131.850.800.065]
          • Dental Enamel Hypoplasia [C16.131.850.800.065.300]
        • Anodontia [C16.131.850.800.100]
        • Dens in Dente [C16.131.850.800.250]
        • Dentin Dysplasia [C16.131.850.800.260]
        • Dentinogenesis Imperfecta [C16.131.850.800.270]
        • Fused Teeth [C16.131.850.800.370]
        • Odontodysplasia [C16.131.850.800.600]
        • Tooth, Supernumerary [C16.131.850.800.850]
    • Thyroid Dysgenesis [C16.131.894]
      • Lingual Thyroid [C16.131.894.500]
        • Lingual Goiter [C16.131.894.500.500]
    • Urogenital Abnormalities [C16.131.939]
      • Bladder Exstrophy [C16.131.939.132]
      • Cryptorchidism [C16.131.939.258]
      • Epispadias [C16.131.939.374]
      • Frasier Syndrome [C16.131.939.445]
      • Hypospadias [C16.131.939.516]
      • Multicystic Dysplastic Kidney [C16.131.939.629]
      • Nephritis, Hereditary [C16.131.939.742]
      • Sex Differentiation Disorders [C16.131.939.842]
        • Freemartinism [C16.131.939.842.260]
        • Gonadal Dysgenesis [C16.131.939.842.309]
          • Gonadal Dysgenesis, 46,XX [C16.131.939.842.309.193]
          • Gonadal Dysgenesis, 46,XY [C16.131.939.842.309.388]
          • Gonadal Dysgenesis, Mixed [C16.131.939.842.309.391]
          • Turner Syndrome [C16.131.939.842.309.872]
        • Hermaphroditism [C16.131.939.842.316]
          • Hermaphroditism, True [C16.131.939.842.316.313]
          • Pseudohermaphroditism [C16.131.939.842.316.627]
            • Androgen-Insensitivity Syndrome [C16.131.939.842.316.627.109]
            • Denys-Drash Syndrome [C16.131.939.842.316.627.220]
        • Kallmann Syndrome [C16.131.939.842.425]
        • Klinefelter Syndrome [C16.131.939.842.454]
      • WAGR Syndrome [C16.131.939.921]
  • Fetal Diseases [C16.300]
    • Chorioamnionitis [C16.300.030]
    • Erythroblastosis, Fetal [C16.300.060]
      • Hydrops Fetalis [C16.300.060.480]
    • Fetal Alcohol Syndrome [C16.300.080]
    • Fetal Growth Retardation [C16.300.390]
    • Fetal Hypoxia [C16.300.420]
    • Fetal Macrosomia [C16.300.570]
    • Meconium Aspiration Syndrome [C16.300.580]
    • Nuchal Cord [C16.300.790]
  • Genetic Diseases, Inborn [C16.320]
    • Adrenal Hyperplasia, Congenital [C16.320.033]
    • Alagille Syndrome [C16.320.051]
    • Anemia, Hemolytic, Congenital [C16.320.070]
      • Anemia, Dyserythropoietic, Congenital [C16.320.070.095]
      • Anemia, Hemolytic, Congenital Nonspherocytic [C16.320.070.100]
      • Anemia, Sickle Cell [C16.320.070.150]
        • Hemoglobin SC Disease [C16.320.070.150.440]
        • Sickle Cell Trait [C16.320.070.150.670]
      • Elliptocytosis, Hereditary [C16.320.070.365]
      • Glucosephosphate Dehydrogenase Deficiency [C16.320.070.480]
        • Favism [C16.320.070.480.370]
      • Hemoglobin C Disease [C16.320.070.490]
      • Spherocytosis, Hereditary [C16.320.070.785]
      • Thalassemia [C16.320.070.875]
        • alpha-Thalassemia [C16.320.070.875.100]
        • beta-Thalassemia [C16.320.070.875.150]
    • Anemia, Hypoplastic, Congenital [C16.320.077]
      • Anemia, Diamond-Blackfan [C16.320.077.090]
      • Fanconi Anemia [C16.320.077.280]
    • Angioedema, Hereditary [C16.320.078]
    • Ataxia Telangiectasia [C16.320.080]
    • Blood Coagulation Disorders, Inherited [C16.320.099]
      • Activated Protein C Resistance [C16.320.099.037]
      • Afibrinogenemia [C16.320.099.056]
      • Antithrombin III Deficiency [C16.320.099.075]
      • Bernard-Soulier Syndrome [C16.320.099.080]
      • Factor V Deficiency [C16.320.099.300]
      • Factor VII Deficiency [C16.320.099.310]
      • Factor X Deficiency [C16.320.099.320]
      • Factor XI Deficiency [C16.320.099.325]
      • Factor XII Deficiency [C16.320.099.330]
      • Factor XIII Deficiency [C16.320.099.335]
      • Hemophilia A [C16.320.099.500]
      • Hemophilia B [C16.320.099.510]
      • Hermanski-Pudlak Syndrome [C16.320.099.515]
      • Hypoprothrombinemias [C16.320.099.550]
      • Protein C Deficiency [C16.320.099.690]
      • Thrombasthenia [C16.320.099.820]
      • von Willebrand Disease [C16.320.099.900]
      • Wiskott-Aldrich Syndrome [C16.320.099.970]
    • Brugada Syndrome [C16.320.100]
    • CADASIL [C16.320.129]
    • Camurati-Engelmann Syndrome [C16.320.144]
    • Cardiomyopathy, Hypertrophic, Familial [C16.320.160]
    • Cherubism [C16.320.170]
    • Chromosome Disorders [C16.320.180]
      • Angelman Syndrome [C16.320.180.040]
      • Beckwith-Wiedemann Syndrome [C16.320.180.080]
      • Branchio-Oto-Renal Syndrome [C16.320.180.090]
      • Cri-du-Chat Syndrome [C16.320.180.190]
      • De Lange Syndrome [C16.320.180.210]
      • Down Syndrome [C16.320.180.260]
      • Holoprosencephaly [C16.320.180.380]
      • Jacobsen Distal 11q Deletion Syndrome [C16.320.180.440]
      • Prader-Willi Syndrome [C16.320.180.700]
      • Rubinstein-Taybi Syndrome [C16.320.180.790]
      • Sex Chromosome Disorders [C16.320.180.800]
        • Fragile X Syndrome [C16.320.180.800.300]
        • Gonadal Dysgenesis, 46,XY [C16.320.180.800.340]
        • Gonadal Dysgenesis, Mixed [C16.320.180.800.345]
        • Klinefelter Syndrome [C16.320.180.800.490]
        • Orofaciodigital Syndromes [C16.320.180.800.670]
        • Turner Syndrome [C16.320.180.800.870]
      • WAGR Syndrome [C16.320.180.940]
      • Williams Syndrome [C16.320.180.970]
      • Wolf-Hirchhorn Syndrome [C16.320.180.985]
    • Cystic Fibrosis [C16.320.190]
    • Dwarfism [C16.320.240]
      • Achondroplasia [C16.320.240.500]
      • Cockayne Syndrome [C16.320.240.562]
      • Congenital Hypothyroidism [C16.320.240.625]
      • Laron Syndrome [C16.320.240.750]
      • Mulibrey Nanism [C16.320.240.875]
    • Eye Diseases, Hereditary [C16.320.290]
      • Albinism [C16.320.290.040]
        • Albinism, Ocular [C16.320.290.040.090]
        • Albinism, Oculocutaneous [C16.320.290.040.100]
          • Hermanski-Pudlak Syndrome [C16.320.290.040.100.400]
        • Piebaldism [C16.320.290.040.600]
      • Aniridia [C16.320.290.078]
        • WAGR Syndrome [C16.320.290.078.950]
      • Choroideremia [C16.320.290.142]
      • Corneal Dystrophies, Hereditary [C16.320.290.162]
        • Corneal Dystrophy, Juvenile Epithelial of Meesmann [C16.320.290.162.204]
        • Fuchs' Endothelial Dystrophy [C16.320.290.162.410]
      • Duane Retraction Syndrome [C16.320.290.235]
      • Gyrate Atrophy [C16.320.290.468]
      • Optic Atrophies, Hereditary [C16.320.290.564]
        • Optic Atrophy, Autosomal Dominant [C16.320.290.564.100]
        • Optic Atrophy, Hereditary, Leber [C16.320.290.564.400]
        • Wolfram Syndrome [C16.320.290.564.980]
      • Retinal Dysplasia [C16.320.290.660]
      • Retinitis Pigmentosa [C16.320.290.684]
        • Usher Syndromes [C16.320.290.684.500]
    • Familial Mediterranean Fever [C16.320.306]
    • Genetic Diseases, X-Linked [C16.320.322]
      • Androgen-Insensitivity Syndrome [C16.320.322.061]
      • Choroideremia [C16.320.322.092]
      • Dyskeratosis Congenita [C16.320.322.108]
      • Ectodermal Dysplasia 1, Anhidrotic [C16.320.322.116]
      • Fabry Disease [C16.320.322.124]
      • Focal Dermal Hypoplasia [C16.320.322.186]
      • Glycogen Storage Disease Type IIb [C16.320.322.201]
      • Glycogen Storage Disease Type VIII [C16.320.322.217]
      • Granulomatous Disease, Chronic [C16.320.322.233]
      • Hemophilia B [C16.320.322.235]
      • Hyper-IgM Immunodeficiency Syndrome, Type 1 [C16.320.322.237]
      • Hypophosphatemic Rickets, X-Linked Dominant [C16.320.322.239]
      • Ichthyosis, X-Linked [C16.320.322.241]
      • Mental Retardation, X-Linked [C16.320.322.500]
        • Adrenoleukodystrophy [C16.320.322.500.124]
        • Coffin-Lowry Syndrome [C16.320.322.500.249]
        • Fragile X Syndrome [C16.320.322.500.500]
        • Lesch-Nyhan Syndrome [C16.320.322.500.625]
        • Menkes Kinky Hair Syndrome [C16.320.322.500.687]
        • Mucopolysaccharidosis II [C16.320.322.500.750]
        • Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.322.500.875]
        • Rett Syndrome [C16.320.322.500.937]
      • Muscular Dystrophy, Duchenne [C16.320.322.562]
      • Muscular Dystrophy, Emery-Dreifuss [C16.320.322.625]
      • Oculocerebrorenal Syndrome [C16.320.322.750]
      • Pelizaeus-Merzbacher Disease [C16.320.322.906]
      • Wiskott-Aldrich Syndrome [C16.320.322.937]
      • X-Linked Combined Immunodeficiency Diseases [C16.320.322.968]
    • Genetic Diseases, Y-Linked [C16.320.338]
    • Hajdu-Cheney Syndrome [C16.320.355]
    • Hemoglobinopathies [C16.320.365]
      • Anemia, Sickle Cell [C16.320.365.155]
        • Hemoglobin SC Disease [C16.320.365.155.440]
        • Sickle Cell Trait [C16.320.365.155.668]
      • Hemoglobin C Disease [C16.320.365.463]
      • Thalassemia [C16.320.365.826]
        • alpha-Thalassemia [C16.320.365.826.100]
          • Hydrops Fetalis [C16.320.365.826.100.350]
        • beta-Thalassemia [C16.320.365.826.150]
    • Heredodegenerative Disorders, Nervous System [C16.320.400]
      • Alexander Disease [C16.320.400.024]
      • Amyloid Neuropathies, Familial [C16.320.400.050]
      • Canavan Disease [C16.320.400.150]
      • Cockayne Syndrome [C16.320.400.200]
      • Dystonia Musculorum Deformans [C16.320.400.330]
      • Gerstmann-Straussler-Scheinker Disease [C16.320.400.350]
      • Hepatolenticular Degeneration [C16.320.400.361]
      • Hereditary Central Nervous System Demyelinating Diseases [C16.320.400.367]
      • Pantothenate Kinase-Associated Neurodegeneration [C16.320.400.375]
      • Hereditary Motor and Sensory Neuropathies [C16.320.400.400]
        • Charcot-Marie-Tooth Disease [C16.320.400.400.200]
        • Refsum Disease [C16.320.400.400.780]
        • Spastic Paraplegia, Hereditary [C16.320.400.400.820]
      • Hereditary Sensory and Autonomic Neuropathies [C16.320.400.415]
        • Dysautonomia, Familial [C16.320.400.415.309]
      • Huntington Disease [C16.320.400.430]
      • Lafora Disease [C16.320.400.480]
      • Lesch-Nyhan Syndrome [C16.320.400.500]
      • Menkes Kinky Hair Syndrome [C16.320.400.520]
      • Mental Retardation, X-Linked [C16.320.400.525]
        • Adrenoleukodystrophy [C16.320.400.525.124]
        • Coffin-Lowry Syndrome [C16.320.400.525.249]
        • Fragile X Syndrome [C16.320.400.525.500]
        • Lesch-Nyhan Syndrome [C16.320.400.525.625]
        • Menkes Kinky Hair Syndrome [C16.320.400.525.687]
        • Mucopolysaccharidosis II [C16.320.400.525.750]
        • Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.400.525.875]
        • Rett Syndrome [C16.320.400.525.937]
      • Myotonia Congenita [C16.320.400.540]
      • Myotonic Dystrophy [C16.320.400.542]
      • Neuroacanthocytosis [C16.320.400.550]
      • Neurofibromatoses [C16.320.400.560]
        • Neurofibromatosis 1 [C16.320.400.560.400]
        • Neurofibromatosis 2 [C16.320.400.560.700]
      • Neuronal Ceroid-Lipofuscinoses [C16.320.400.600]
      • Optic Atrophies, Hereditary [C16.320.400.630]
        • Optic Atrophy, Autosomal Dominant [C16.320.400.630.100]
        • Optic Atrophy, Hereditary, Leber [C16.320.400.630.400]
        • Wolfram Syndrome [C16.320.400.630.980]
      • Rett Syndrome [C16.320.400.700]
      • Spinal Muscular Atrophies of Childhood [C16.320.400.765]
      • Spinocerebellar Degenerations [C16.320.400.780]
        • Friedreich Ataxia [C16.320.400.780.200]
        • Myoclonic Cerebellar Dyssynergia [C16.320.400.780.500]
        • Olivopontocerebellar Atrophies [C16.320.400.780.750]
        • Spinocerebellar Ataxias [C16.320.400.780.875]
          • Machado-Joseph Disease [C16.320.400.780.875.500]
      • Tourette Syndrome [C16.320.400.820]
      • Tuberous Sclerosis [C16.320.400.880]
      • Unverricht-Lundborg Syndrome [C16.320.400.940]
    • Hyperthyroxinemia, Familial Dysalbuminemic [C16.320.427]
    • Kallmann Syndrome [C16.320.467]
    • Kartagener Syndrome [C16.320.480]
    • Marfan Syndrome [C16.320.540]
    • Metabolism, Inborn Errors [C16.320.565]
      • Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
        • Albinism [C16.320.565.100.102]
          • Albinism, Ocular [C16.320.565.100.102.090]
          • Albinism, Oculocutaneous [C16.320.565.100.102.100]
            • Hermanski-Pudlak Syndrome [C16.320.565.100.102.100.400]
          • Piebaldism [C16.320.565.100.102.600]
        • Alkaptonuria [C16.320.565.100.187]
        • Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.100.275]
        • Citrullinemia [C16.320.565.100.340]
        • Homocystinuria [C16.320.565.100.470]
        • Hyperargininemia [C16.320.565.100.475]
        • Hyperglycinemia, Nonketotic [C16.320.565.100.477]
        • Hyperhomocysteinemia [C16.320.565.100.480]
        • Hyperlysinemias [C16.320.565.100.544]
        • Maple Syrup Urine Disease [C16.320.565.100.608]
        • Multiple Acyl Coenzyme A Dehydrogenase Deficiency [C16.320.565.100.614]
        • Multiple Carboxylase Deficiency [C16.320.565.100.620]
          • Biotinidase Deficiency [C16.320.565.100.620.100]
          • Holocarboxylase Synthetase Deficiency [C16.320.565.100.620.380]
        • Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.100.729]
        • Phenylketonurias [C16.320.565.100.766]
          • Phenylketonuria, Maternal [C16.320.565.100.766.500]
        • Tyrosinemias [C16.320.565.100.880]
      • Amino Acid Transport Disorders, Inborn [C16.320.565.151]
        • Hartnup Disease [C16.320.565.151.355]
        • Oculocerebrorenal Syndrome [C16.320.565.151.600]
      • Amyloidosis, Familial [C16.320.565.176]
        • Amyloid Neuropathies, Familial [C16.320.565.176.050]
        • Cerebral Amyloid Angiopathy, Familial [C16.320.565.176.160]
      • Brain Diseases, Metabolic, Inborn [C16.320.565.189]
        • Carbamoyl-Phosphate Synthase I Deficiency Disease [C16.320.565.189.162]
        • Cerebral Amyloid Angiopathy, Familial [C16.320.565.189.168]
        • Citrullinemia [C16.320.565.189.175]
        • Galactosemias [C16.320.565.189.320]
        • Hartnup Disease [C16.320.565.189.355]
        • Hepatolenticular Degeneration [C16.320.565.189.360]
        • Homocystinuria [C16.320.565.189.365]
        • Hyperargininemia [C16.320.565.189.370]
        • Hyperglycinemia, Nonketotic [C16.320.565.189.375]
        • Hyperlysinemias [C16.320.565.189.380]
        • Leigh Disease [C16.320.565.189.412]
        • Lesch-Nyhan Syndrome [C16.320.565.189.425]
        • Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
          • Fucosidosis [C16.320.565.189.435.295]
          • Glycogen Storage Disease Type II [C16.320.565.189.435.340]
          • Mucolipidoses [C16.320.565.189.435.590]
          • Sialic Acid Storage Disease [C16.320.565.189.435.810]
          • Sphingolipidoses [C16.320.565.189.435.825]
            • Fabry Disease [C16.320.565.189.435.825.200]
            • Gangliosidoses [C16.320.565.189.435.825.300]
              • Gangliosidoses, GM2 [C16.320.565.189.435.825.300.300]
                • Sandhoff Disease [C16.320.565.189.435.825.300.300.249]
                • Tay-Sachs Disease [C16.320.565.189.435.825.300.300.500]
                • Tay-Sachs Disease, AB Variant [C16.320.565.189.435.825.300.300.750]
              • Gangliosidosis, GM1 [C16.320.565.189.435.825.300.400]
              • Sandhoff Disease [C16.320.565.189.435.825.300.700]
            • Gaucher Disease [C16.320.565.189.435.825.400]
            • Leukodystrophy, Globoid Cell [C16.320.565.189.435.825.590]
            • Niemann-Pick Diseases [C16.320.565.189.435.825.700]
              • Niemann-Pick Disease, Type A [C16.320.565.189.435.825.700.500]
              • Niemann-Pick Disease, Type B [C16.320.565.189.435.825.700.750]
              • Niemann-Pick Disease, Type C [C16.320.565.189.435.825.700.875]
            • Sea-Blue Histiocyte Syndrome [C16.320.565.189.435.825.775]
            • Sulfatidosis [C16.320.565.189.435.825.850]
              • Leukodystrophy, Metachromatic [C16.320.565.189.435.825.850.500]
              • Multiple Sulfatase Deficiency Disease [C16.320.565.189.435.825.850.750]
        • Maple Syrup Urine Disease [C16.320.565.189.520]
        • MELAS Syndrome [C16.320.565.189.535]
        • Menkes Kinky Hair Syndrome [C16.320.565.189.540]
        • MERRF Syndrome [C16.320.565.189.545]
        • Oculocerebrorenal Syndrome [C16.320.565.189.640]
        • Ornithine Carbamoyltransferase Deficiency Disease [C16.320.565.189.650]
        • Peroxisomal Disorders [C16.320.565.189.680]
          • Adrenoleukodystrophy [C16.320.565.189.680.100]
          • Mevalonate Kinase Deficiency [C16.320.565.189.680.430]
          • Refsum Disease [C16.320.565.189.680.760]
          • Refsum Disease, Infantile [C16.320.565.189.680.865]
          • Zellweger Syndrome [C16.320.565.189.680.970]
        • Phenylketonurias [C16.320.565.189.687]
          • Phenylketonuria, Maternal [C16.320.565.189.687.500]
        • Pyruvate Carboxylase Deficiency Disease [C16.320.565.189.725]
        • Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.189.750]
        • Tyrosinemias [C16.320.565.189.875]
      • Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
        • Carbohydrate-Deficient Glycoprotein Syndrome [C16.320.565.202.125]
        • Fructose Metabolism, Inborn Errors [C16.320.565.202.251]
          • Fructose-1,6-Diphosphatase Deficiency [C16.320.565.202.251.221]
          • Fructose Intolerance [C16.320.565.202.251.271]
        • Fucosidosis [C16.320.565.202.303]
        • Galactosemias [C16.320.565.202.355]
        • Glucosephosphate Dehydrogenase Deficiency [C16.320.565.202.402]
        • Glycogen Storage Disease [C16.320.565.202.449]
          • Glycogen Storage Disease Type I [C16.320.565.202.449.448]
          • Glycogen Storage Disease Type II [C16.320.565.202.449.500]
          • Glycogen Storage Disease Type IIb [C16.320.565.202.449.510]
          • Glycogen Storage Disease Type III [C16.320.565.202.449.520]
          • Glycogen Storage Disease Type IV [C16.320.565.202.449.540]
          • Glycogen Storage Disease Type V [C16.320.565.202.449.560]
          • Glycogen Storage Disease Type VI [C16.320.565.202.449.580]
          • Glycogen Storage Disease Type VII [C16.320.565.202.449.600]
          • Glycogen Storage Disease Type VIII [C16.320.565.202.449.620]
        • Hyperoxaluria, Primary [C16.320.565.202.460]
        • Lactose Intolerance [C16.320.565.202.589]
        • Mannosidase Deficiency Diseases [C16.320.565.202.607]
          • alpha-Mannosidosis [C16.320.565.202.607.500]
          • beta-Mannosidosis [C16.320.565.202.607.750]
        • Mucolipidoses [C16.320.565.202.670]
        • Mucopolysaccharidoses [C16.320.565.202.715]
          • Mucopolysaccharidosis I [C16.320.565.202.715.640]
          • Mucopolysaccharidosis II [C16.320.565.202.715.645]
          • Mucopolysaccharidosis III [C16.320.565.202.715.650]
          • Mucopolysaccharidosis IV [C16.320.565.202.715.655]
          • Mucopolysaccharidosis VI [C16.320.565.202.715.670]
          • Mucopolysaccharidosis VII [C16.320.565.202.715.675]
        • Multiple Carboxylase Deficiency [C16.320.565.202.720]
          • Biotinidase Deficiency [C16.320.565.202.720.100]
          • Holocarboxylase Synthetase Deficiency [C16.320.565.202.720.380]
        • Pyruvate Metabolism, Inborn Errors [C16.320.565.202.810]
          • Leigh Disease [C16.320.565.202.810.444]
          • Pyruvate Carboxylase Deficiency Disease [C16.320.565.202.810.666]
          • Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.565.202.810.766]
      • Cytochrome-c Oxidase Deficiency [C16.320.565.240]
      • Hyperbilirubinemia, Hereditary [C16.320.565.300]
        • Crigler-Najjar Syndrome [C16.320.565.300.281]
        • Gilbert Disease [C16.320.565.300.528]
        • Jaundice, Chronic Idiopathic [C16.320.565.300.764]
      • Lipid Metabolism, Inborn Errors [C16.320.565.398]
        • Hyperlipidemia, Familial Combined [C16.320.565.398.450]
        • Hyperlipoproteinemia Type I [C16.320.565.398.465]
        • Hyperlipoproteinemia Type II [C16.320.565.398.481]
        • Hyperlipoproteinemia Type III [C16.320.565.398.483]
        • Hyperlipoproteinemia Type IV [C16.320.565.398.487]
        • Hyperlipoproteinemia Type V [C16.320.565.398.493]
        • Hypolipoproteinemias [C16.320.565.398.500]
          • Hypoalphalipoproteinemias [C16.320.565.398.500.330]
            • Lecithin Acyltransferase Deficiency [C16.320.565.398.500.330.500]
            • Tangier Disease [C16.320.565.398.500.330.750]
          • Hypobetalipoproteinemias [C16.320.565.398.500.440]
            • Abetalipoproteinemia [C16.320.565.398.500.440.500]
        • Lipidoses [C16.320.565.398.641]
          • Cholesterol Ester Storage Disease [C16.320.565.398.641.201]
            • Wolman Disease [C16.320.565.398.641.201.500]
          • Neuronal Ceroid-Lipofuscinoses [C16.320.565.398.641.509]
          • Sjogren-Larsson Syndrome [C16.320.565.398.641.723]
          • Sphingolipidoses [C16.320.565.398.641.803]
            • Fabry Disease [C16.320.565.398.641.803.300]
            • Gangliosidoses [C16.320.565.398.641.803.350]
              • Gangliosidoses, GM2 [C16.320.565.398.641.803.350.300]
                • Sandhoff Disease [C16.320.565.398.641.803.350.300.700]
                • Tay-Sachs Disease [C16.320.565.398.641.803.350.300.850]
                • Tay-Sachs Disease, AB Variant [C16.320.565.398.641.803.350.300.925]
              • Gangliosidosis, GM1 [C16.320.565.398.641.803.350.360]
            • Gaucher Disease [C16.320.565.398.641.803.441]
            • Leukodystrophy, Globoid Cell [C16.320.565.398.641.803.585]
            • Niemann-Pick Diseases [C16.320.565.398.641.803.730]
              • Niemann-Pick Disease, Type A [C16.320.565.398.641.803.730.500]
              • Niemann-Pick Disease, Type B [C16.320.565.398.641.803.730.750]
              • Niemann-Pick Disease, Type C [C16.320.565.398.641.803.730.875]
            • Sea-Blue Histiocyte Syndrome [C16.320.565.398.641.803.850]
            • Sulfatidosis [C16.320.565.398.641.803.925]
              • Leukodystrophy, Metachromatic [C16.320.565.398.641.803.925.500]
              • Multiple Sulfatase Deficiency Disease [C16.320.565.398.641.803.925.750]
        • Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
        • Xanthomatosis, Cerebrotendinous [C16.320.565.398.925]
      • Lysosomal Storage Diseases [C16.320.565.595]
        • Cholesterol Ester Storage Disease [C16.320.565.595.201]
          • Wolman Disease [C16.320.565.595.201.500]
        • Cystinosis [C16.320.565.595.377]
        • Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
          • Fucosidosis [C16.320.565.595.554.295]
          • Glycogen Storage Disease Type II [C16.320.565.595.554.340]
          • Mucolipidoses [C16.320.565.595.554.590]
          • Sialic Acid Storage Disease [C16.320.565.595.554.810]
          • Sphingolipidoses [C16.320.565.595.554.825]
            • Fabry Disease [C16.320.565.595.554.825.200]
            • Gangliosidoses [C16.320.565.595.554.825.300]
              • Gangliosidoses, GM2 [C16.320.565.595.554.825.300.300]
                • Sandhoff Disease [C16.320.565.595.554.825.300.300.800]
                • Tay-Sachs Disease [C16.320.565.595.554.825.300.300.840]
                • Tay-Sachs Disease, AB Variant [C16.320.565.595.554.825.300.300.920]
              • Gangliosidosis, GM1 [C16.320.565.595.554.825.300.400]
            • Gaucher Disease [C16.320.565.595.554.825.400]
            • Leukodystrophy, Globoid Cell [C16.320.565.595.554.825.590]
            • Niemann-Pick Diseases [C16.320.565.595.554.825.700]
              • Niemann-Pick Disease, Type A [C16.320.565.595.554.825.700.500]
              • Niemann-Pick Disease, Type B [C16.320.565.595.554.825.700.750]
              • Niemann-Pick Disease, Type C [C16.320.565.595.554.825.700.875]
            • Sea-Blue Histiocyte Syndrome [C16.320.565.595.554.825.775]
            • Sulfatidosis [C16.320.565.595.554.825.850]
              • Leukodystrophy, Metachromatic [C16.320.565.595.554.825.850.500]
              • Multiple Sulfatase Deficiency Disease [C16.320.565.595.554.825.850.750]
        • Mannosidase Deficiency Diseases [C16.320.565.595.577]
          • alpha-Mannosidosis [C16.320.565.595.577.500]
          • beta-Mannosidosis [C16.320.565.595.577.750]
        • Mucopolysaccharidoses [C16.320.565.595.600]
          • Mucopolysaccharidosis I [C16.320.565.595.600.640]
          • Mucopolysaccharidosis II [C16.320.565.595.600.645]
          • Mucopolysaccharidosis III [C16.320.565.595.600.650]
          • Mucopolysaccharidosis IV [C16.320.565.595.600.655]
          • Mucopolysaccharidosis VI [C16.320.565.595.600.670]
          • Mucopolysaccharidosis VII [C16.320.565.595.600.675]
      • Metal Metabolism, Inborn Errors [C16.320.565.618]
        • Hemochromatosis [C16.320.565.618.337]
        • Hepatolenticular Degeneration [C16.320.565.618.403]
        • Hypophosphatasia [C16.320.565.618.482]
        • Hypophosphatemia, Familial [C16.320.565.618.544]
          • Hypophosphatemic Rickets, X-Linked Dominant [C16.320.565.618.544.500]
        • Menkes Kinky Hair Syndrome [C16.320.565.618.590]
        • Paralyses, Familial Periodic [C16.320.565.618.711]
          • Hypokalemic Periodic Paralysis [C16.320.565.618.711.550]
          • Paralysis, Hyperkalemic Periodic [C16.320.565.618.711.600]
        • Pseudohypoparathyroidism [C16.320.565.618.815]
          • Pseudopseudohypoparathyroidism [C16.320.565.618.815.815]
      • Peroxisomal Disorders [C16.320.565.663]
        • Acatalasia [C16.320.565.663.025]
        • Adrenoleukodystrophy [C16.320.565.663.112]
        • Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.200]
        • Mevalonate Kinase Deficiency [C16.320.565.663.480]
        • Refsum Disease [C16.320.565.663.760]
        • Refsum Disease, Infantile [C16.320.565.663.865]
        • Zellweger Syndrome [C16.320.565.663.970]
      • Porphyrias [C16.320.565.708]
        • Porphyria, Erythropoietic [C16.320.565.708.250]
        • Porphyrias, Hepatic [C16.320.565.708.400]
          • Coproporphyria, Hereditary [C16.320.565.708.400.074]
          • Porphyria, Acute Intermittent [C16.320.565.708.400.150]
          • Porphyria Cutanea Tarda [C16.320.565.708.400.250]
          • Porphyria, Hepatoerythropoietic [C16.320.565.708.400.437]
          • Porphyria, Variegate [C16.320.565.708.400.625]
          • Protoporphyria, Erythropoietic [C16.320.565.708.400.812]
      • Progeria [C16.320.565.753]
      • Purine-Pyrimidine Metabolism, Inborn Errors [C16.320.565.798]
        • Dihydropyrimidine Dehydrogenase Deficiency [C16.320.565.798.183]
        • Gout [C16.320.565.798.368]
          • Arthritis, Gouty [C16.320.565.798.368.410]
        • Lesch-Nyhan Syndrome [C16.320.565.798.594]
      • Renal Tubular Transport, Inborn Errors [C16.320.565.861]
        • Acidosis, Renal Tubular [C16.320.565.861.093]
        • Fanconi Syndrome [C16.320.565.861.450]
        • Glycosuria, Renal [C16.320.565.861.532]
        • Hypophosphatemia, Familial [C16.320.565.861.647]
          • Hypophosphatemic Rickets, X-Linked Dominant [C16.320.565.861.647.500]
        • Oculocerebrorenal Syndrome [C16.320.565.861.750]
        • Pseudohypoaldosteronism [C16.320.565.861.770]
        • Renal Aminoacidurias [C16.320.565.861.885]
          • Cystinuria [C16.320.565.861.885.250]
          • Hartnup Disease [C16.320.565.861.885.457]
      • Steroid Metabolism, Inborn Errors [C16.320.565.925]
        • Adrenal Hyperplasia, Congenital [C16.320.565.925.249]
        • Ichthyosis, X-Linked [C16.320.565.925.400]
        • Mineralocorticoid Excess Syndrome, Apparent [C16.320.565.925.500]
        • Smith-Lemli-Opitz Syndrome [C16.320.565.925.875]
    • Muscular Dystrophies [C16.320.577]
      • Distal Myopathies [C16.320.577.074]
      • Glycogen Storage Disease Type VII [C16.320.577.149]
      • Muscular Dystrophies, Limb-Girdle [C16.320.577.280]
      • Muscular Dystrophy, Duchenne [C16.320.577.300]
      • Muscular Dystrophy, Emery-Dreifuss [C16.320.577.350]
      • Muscular Dystrophy, Facioscapulohumeral [C16.320.577.400]
      • Muscular Dystrophy, Oculopharyngeal [C16.320.577.450]
      • Myotonic Dystrophy [C16.320.577.500]
    • Myasthenic Syndromes, Congenital [C16.320.590]
    • Nail-Patella Syndrome [C16.320.600]
    • Neoplastic Syndromes, Hereditary [C16.320.700]
      • Adenomatous Polyposis Coli [C16.320.700.100]
        • Gardner Syndrome [C16.320.700.100.393]
      • Basal Cell Nevus Syndrome [C16.320.700.175]
      • Colorectal Neoplasms, Hereditary Nonpolyposis [C16.320.700.250]
      • Dysplastic Nevus Syndrome [C16.320.700.305]
      • Exostoses, Multiple Hereditary [C16.320.700.330]
      • Hamartoma Syndrome, Multiple [C16.320.700.435]
      • Li-Fraumeni Syndrome [C16.320.700.600]
      • Multiple Endocrine Neoplasia [C16.320.700.630]
        • Multiple Endocrine Neoplasia Type 1 [C16.320.700.630.500]
        • Multiple Endocrine Neoplasia Type 2a [C16.320.700.630.505]
        • Multiple Endocrine Neoplasia Type 2b [C16.320.700.630.510]
      • Wilms Tumor [C16.320.700.642]
        • Denys-Drash Syndrome [C16.320.700.642.220]
        • WAGR Syndrome [C16.320.700.642.950]
      • Neurofibromatoses [C16.320.700.645]
        • Neurofibromatosis 1 [C16.320.700.645.650]
        • Neurofibromatosis 2 [C16.320.700.645.655]
      • Peutz-Jeghers Syndrome [C16.320.700.705]
    • Osteogenesis Imperfecta [C16.320.737]
    • Pain Insensitivity, Congenital [C16.320.775]
    • Skin Diseases, Genetic [C16.320.850]
      • Albinism [C16.320.850.080]
        • Albinism, Ocular [C16.320.850.080.090]
        • Albinism, Oculocutaneous [C16.320.850.080.100]
          • Hermanski-Pudlak Syndrome [C16.320.850.080.100.400]
        • Piebaldism [C16.320.850.080.600]
      • Cutis Laxa [C16.320.850.180]
      • Dermatitis, Atopic [C16.320.850.210]
      • Dyskeratosis Congenita [C16.320.850.235]
      • Ectodermal Dysplasia [C16.320.850.250]
        • Ectodermal Dysplasia 1, Anhidrotic [C16.320.850.250.198]
        • Ectodermal Dysplasia 3, Anhidrotic [C16.320.850.250.298]
        • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive [C16.320.850.250.348]
        • Ellis-Van Creveld Syndrome [C16.320.850.250.398]
        • Focal Dermal Hypoplasia [C16.320.850.250.424]
        • Neurocutaneous Syndromes [C16.320.850.250.712]
        • Pachyonychia Congenita [C16.320.850.250.856]
      • Ehlers-Danlos Syndrome [C16.320.850.260]
      • Epidermolysis Bullosa [C16.320.850.275]
        • Epidermolysis Bullosa Dystrophica [C16.320.850.275.160]
        • Epidermolysis Bullosa, Junctional [C16.320.850.275.170]
        • Epidermolysis Bullosa Simplex [C16.320.850.275.180]
      • Ichthyosiform Erythroderma, Congenital [C16.320.850.400]
        • Hyperkeratosis, Epidermolytic [C16.320.850.400.375]
        • Ichthyosis, Lamellar [C16.320.850.400.410]
      • Ichthyosis Bullosa of Siemens [C16.320.850.402]
      • Ichthyosis Vulgaris [C16.320.850.405]
      • Ichthyosis, X-Linked [C16.320.850.408]
      • Incontinentia Pigmenti [C16.320.850.420]
      • Keratoderma, Palmoplantar [C16.320.850.475]
        • Keratoderma, Palmoplantar, Diffuse [C16.320.850.475.440]
          • Keratoderma, Palmoplantar, Epidermolytic [C16.320.850.475.440.500]
        • Papillon-Lefevre Disease [C16.320.850.475.600]
      • Keratosis Follicularis [C16.320.850.490]
      • Leukokeratosis, Hereditary Mucosal [C16.320.850.542]
      • Lipoid Proteinosis of Urbach and Wiethe [C16.320.850.595]
      • Pemphigus, Benign Familial [C16.320.850.700]
      • Porokeratosis [C16.320.850.730]
      • Porphyria, Erythropoietic [C16.320.850.738]
      • Porphyrias, Hepatic [C16.320.850.742]
        • Coproporphyria, Hereditary [C16.320.850.742.074]
        • Porphyria, Acute Intermittent [C16.320.850.742.150]
        • Porphyria Cutanea Tarda [C16.320.850.742.250]
        • Porphyria, Hepatoerythropoietic [C16.320.850.742.437]
        • Porphyria, Variegate [C16.320.850.742.625]
        • Protoporphyria, Erythropoietic [C16.320.850.742.812]
      • Pseudoxanthoma Elasticum [C16.320.850.750]
      • Rothmund-Thomson Syndrome [C16.320.850.765]
      • Sjogren-Larsson Syndrome [C16.320.850.820]
      • Trichothiodystrophy Syndromes [C16.320.850.895]
      • Xeroderma Pigmentosum [C16.320.850.970]
    • Werner Syndrome [C16.320.925]
  • Infant, Newborn, Diseases [C16.614]
    • Amniotic Band Syndrome [C16.614.042]
    • Anemia, Neonatal [C16.614.053]
      • Fetofetal Transfusion [C16.614.053.344]
      • Fetomaternal Transfusion [C16.614.053.511]
    • Asphyxia Neonatorum [C16.614.092]
    • Birth Injuries [C16.614.131]
      • Paralysis, Obstetric [C16.614.131.587]
    • Cystic Fibrosis [C16.614.213]
    • Epilepsy, Benign Neonatal [C16.614.258]
    • Erythroblastosis, Fetal [C16.614.304]
      • Kernicterus [C16.614.304.502]
    • Hemorrhagic Disease of Newborn [C16.614.378]
    • Hernia, Umbilical [C16.614.390]
    • Hydrocephalus [C16.614.414]
      • Dandy-Walker Syndrome [C16.614.414.200]
    • Hydrophthalmos [C16.614.438]
    • Hyperbilirubinemia, Neonatal [C16.614.451]
      • Jaundice, Neonatal [C16.614.451.500]
        • Jaundice, Chronic Idiopathic [C16.614.451.500.250]
    • Hyperostosis, Cortical, Congenital [C16.614.465]
    • Ichthyosis [C16.614.492]
      • Ichthyosiform Erythroderma, Congenital [C16.614.492.400]
        • Hyperkeratosis, Epidermolytic [C16.614.492.400.375]
        • Ichthyosis, Lamellar [C16.614.492.400.410]
      • Ichthyosis Bullosa of Siemens [C16.614.492.410]
      • Ichthyosis, X-Linked [C16.614.492.420]
      • Sjogren-Larsson Syndrome [C16.614.492.723]
    • Infant, Premature, Diseases [C16.614.521]
      • Bronchopulmonary Dysplasia [C16.614.521.125]
      • Leukomalacia, Periventricular [C16.614.521.450]
      • Respiratory Distress Syndrome, Newborn [C16.614.521.563]
        • Hyaline Membrane Disease [C16.614.521.563.475]
      • Retinopathy of Prematurity [C16.614.521.731]
    • Meconium Aspiration Syndrome [C16.614.580]
    • Mobius Syndrome [C16.614.595]
    • Neonatal Abstinence Syndrome [C16.614.610]
    • Nystagmus, Congenital [C16.614.643]
    • Ophthalmia Neonatorum [C16.614.677]
    • Persistent Fetal Circulation Syndrome [C16.614.694]
    • Persistent Hyperinsulinemia Hypoglycemia of Infancy [C16.614.716]
    • Rothmund-Thomson Syndrome [C16.614.760]
    • Sclerema Neonatorum [C16.614.810]
    • Severe Combined Immunodeficiency [C16.614.815]
      • X-Linked Combined Immunodeficiency Diseases [C16.614.815.500]
    • Syphilis, Congenital [C16.614.868]
    • Thanatophoric Dysplasia [C16.614.890]
    • Thrombocytopenia, Neonatal Alloimmune [C16.614.899]
    • Toxoplasmosis, Congenital [C16.614.909]
    • Wolman Disease [C16.614.947]

Last updated: 05 November 2007
First published: 07 October 2007
Metadata| Permanence level: Permanent: Dynamic Content