ONKI3 | Medical Subject Headings

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The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Chromosome Disorders

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Chromosome Disorders 52 coordinate concepts 12 subordinate concepts ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Holoprosencephaly \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ Sex Chromosome Disorders \| ∟ WAGR Syndrome \| ∟ Williams Syndrome ∟ Abnormalities, Drug-Induced \| ∟ Abnormalities, Multiple \| ∟ Abnormalities, Radiation-Induced \| ∟ Cardiovascular Abnormalities \| ∟ D000013Q000139* \| ∟ DiGeorge Syndrome \| ∟ Digestive System Abnormalities \| ∟ Eye Abnormalities \| ∟ Lymphatic Abnormalities \| ∟ Monsters \| ∟ Musculoskeletal Abnormalities \| ∟ Nervous System Malformations \| ∟ Respiratory System Abnormalities \| ∟ Situs Inversus \| ∟ Skin Abnormalities \| ∟ Stomatognathic System Abnormalities \| ∟ Thyroid Dysgenesis \| ∟ Urogenital Abnormalities \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Hyperthyroxinemia, Familial Dysalbuminemic \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Metabolism, Inborn Errors \| ∟ Muscular Dystrophies \| ∟ Myasthenic Syndromes, Congenital \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Chromosome Disorders 52 coordinate concepts 12 subordinate concepts ∟ Angelman Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Holoprosencephaly \| ∟ Prader-Willi Syndrome \| ∟ Rubinstein-Taybi Syndrome \| ∟ Sex Chromosome Disorders \| ∟ WAGR Syndrome \| ∟ Williams Syndrome ∟ Abnormalities, Drug-Induced \| ∟ Abnormalities, Multiple \| ∟ Abnormalities, Radiation-Induced \| ∟ Cardiovascular Abnormalities \| ∟ D000013Q000139* \| ∟ DiGeorge Syndrome \| ∟ Digestive System Abnormalities \| ∟ Eye Abnormalities \| ∟ Lymphatic Abnormalities \| ∟ Monsters \| ∟ Musculoskeletal Abnormalities \| ∟ Nervous System Malformations \| ∟ Respiratory System Abnormalities \| ∟ Situs Inversus \| ∟ Skin Abnormalities \| ∟ Stomatognathic System Abnormalities \| ∟ Thyroid Dysgenesis \| ∟ Urogenital Abnormalities \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Hyperthyroxinemia, Familial Dysalbuminemic \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Metabolism, Inborn Errors \| ∟ Muscular Dystrophies \| ∟ Myasthenic Syndromes, Congenital \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Chromosome Disorders Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Chromosome Disorders Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) X
Narrower terms:	Angelman Syndrome \| Beckwith-Wiedemann Syndrome \| Branchio-Oto-Renal Syndrome \| Cri-du-Chat Syndrome \| De Lange Syndrome \| Down Syndrome \| Holoprosencephaly \| Prader-Willi Syndrome \| Rubinstein-Taybi Syndrome \| Sex Chromosome Disorders \| WAGR Syndrome \| Williams Syndrome X
Annotation:	GEN or unspecified; prefer specifics; coord IM with specific numbered chromosome (IM) X
History note:	Chromosome Abnormalities (1964-2001)X
historyNote*:	2002; see CHROMOSOMAL ABNORMALITIES 1978-1995 X
publicMeSHNote*:	2002 X
Scope note:	Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) X
activeMeSHYear*:	2002 \| 2003 \| 2004 \| 2005 \| 2006 \| 2007X
dateCreated*:	2001-07-25X
dateEstablished*:	2002-01-01X
Related term:	Cytogenetics \| Genetics, Medical X
Type:	Concept X
Coordinate terms:	Abnormalities, Drug-Induced \| Abnormalities, Multiple \| Abnormalities, Radiation-Induced \| Cardiovascular Abnormalities \| D000013Q000139* \| DiGeorge Syndrome \| Digestive System Abnormalities \| Eye Abnormalities \| Lymphatic Abnormalities \| Monsters \| Musculoskeletal Abnormalities \| Nervous System Malformations \| Respiratory System Abnormalities \| Situs Inversus \| Skin Abnormalities \| Stomatognathic System Abnormalities \| Thyroid Dysgenesis \| Urogenital Abnormalities \| Adrenal Hyperplasia, Congenital \| Anemia, Hemolytic, Congenital \| Anemia, Hypoplastic, Congenital \| Ataxia Telangiectasia \| Blood Coagulation Disorders, Inherited \| Brugada Syndrome \| CADASIL \| Camurati-Engelmann Syndrome \| Cardiomyopathy, Hypertrophic, Familial \| Cherubism \| Cystic Fibrosis \| Dwarfism \| Eye Diseases, Hereditary \| Familial Mediterranean Fever \| Genetic Diseases, X-Linked \| Genetic Diseases, Y-Linked \| Hajdu-Cheney Syndrome \| Hemoglobinopathies \| Heredodegenerative Disorders, Nervous System \| Hyperthyroxinemia, Familial Dysalbuminemic \| Jervell-Lange Nielsen Syndrome \| Kallmann Syndrome \| Kartagener Syndrome \| Marfan Syndrome \| Metabolism, Inborn Errors \| Muscular Dystrophies \| Myasthenic Syndromes, Congenital \| Nail-Patella Syndrome \| Neoplastic Syndromes, Hereditary \| Osteogenesis Imperfecta \| Pain Insensitivity, Congenital \| Romano-Ward Syndrome \| Skin Diseases, Genetic \| Werner Syndrome X
URI:	X
Labels and equivalent concepts:	Kromosomihäiriöt (fi) Kromosomihäiriö (fi, replaced) Kromosomrubbningar (sv) Chromosome Abnormality Disorders (en, replaced) Chromosomal Disorders (en, replaced) X
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