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Cell Culture Ontology
| Preferred Name | Down syndrome | |
| Synonyms |
trisomy 21 syndrome complete trisomy 21 syndrome trisomy 21 Down syndrome chromosome region leukemia, megakaryoblastic, of Down syndrome Down syndrome critical region transient myeloproliferative disorder of Down syndrome Trisomy 21, Meiotic Nondisjunction Down's syndrome NOS Downs Syndrome Partial Trisomy 21 Down Syndrome Downs syndrome Down syndrome, Isolated cases Syndrome, Down Down's syndrome Complete trisomy 21 syndrome Syndrome, Down's Down syndrome DOWN'S SYNDROME Trisomy 21 NOS Complete trisomy 21 syndrome (disorder) Down's syndrome - trisomy 21 Trisomy 21, Mitotic Nondisjunction Down Syndrome, Partial Trisomy 21 Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome Down's syndrome NOS (disorder) trisomy 21 (Down syndrome) T21 - Trisomy 21 leukemia, megakaryoblastic, with or without Down syndrome, somatic G Trisomy G trisomy Mongolism Trisomy 21 |
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| Definitions |
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include intellectual disability, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004 Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia) May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0001064 |
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| comment |
May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future
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| database_cross_reference |
UMLS:C0013080 Orphanet:870 icd11.foundation:1624623908 MEDGEN:4385 MeSH:D004314 OMIM:190685 MONDO:0008608 SNOMEDCT:41040004 MESH:D004314 NIFSTD:nlx_dys_20090502 SCTID:41040004 NANDO:2200965 MedDRA:10044688 DOID:14250 ICD9:758.0 NCIT:C2993 NCIt:C2993
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| definition |
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include intellectual disability, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004 Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)
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| has_exact_synonym |
Trisomy 21, Meiotic Nondisjunction Down's syndrome NOS Downs Syndrome Partial Trisomy 21 Down Syndrome trisomy 21 syndrome Downs syndrome Down syndrome, Isolated cases Syndrome, Down Down's syndrome Complete trisomy 21 syndrome Syndrome, Down's Down syndrome DOWN'S SYNDROME Trisomy 21 NOS Complete trisomy 21 syndrome (disorder) Down's syndrome - trisomy 21 Trisomy 21, Mitotic Nondisjunction Down Syndrome, Partial Trisomy 21 Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome Down's syndrome NOS (disorder) trisomy 21 (Down syndrome) T21 - Trisomy 21 leukemia, megakaryoblastic, with or without Down syndrome, somatic G Trisomy G trisomy Mongolism Trisomy 21
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| has_narrow_synonym |
trisomy 21 syndrome complete trisomy 21 syndrome trisomy 21
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| has_related_synonym |
Down syndrome chromosome region leukemia, megakaryoblastic, of Down syndrome Down syndrome critical region transient myeloproliferative disorder of Down syndrome
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| IAO_0000233 | ||
| id |
EFO:0001064
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
Down syndrome
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| notation |
EFO:0001064
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| preferred label |
Down syndrome
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| prefLabel |
Down syndrome
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1624623908 http://purl.obolibrary.org/obo/Orphanet_870 http://identifiers.org/mesh/D004314 http://purl.obolibrary.org/obo/EFO_0001064 http://identifiers.org/medgen/4385 http://purl.obolibrary.org/obo/DOID_14250 http://linkedlifedata.com/resource/umls/id/C0013080 |
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| term editor |
Tomasz Adamusiak James Malone
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| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015506 http://purl.obolibrary.org/obo/MONDO_0019040 http://purl.obolibrary.org/obo/MONDO_0018792 http://purl.obolibrary.org/obo/MONDO_0015652 http://purl.obolibrary.org/obo/MONDO_0003847 |
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