DiseaseID 3832

唐氏综合征

disease

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Disease: 1Experiment: 9Symptom: 2Target: 24Links: 35

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Record Fields

Scalar fields from the final disease record.

Disease Id: 3832
Core Entity Id: 60087
Source Entity Count: 1
Preferred Name: Down Syndrome
Name Cn: 唐氏综合征
Name Pinyin: Tang Shi Zong He Zheng
Name En: Down Syndrome
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Disease or Syndrome
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Do Class: genetic disease
Hpo Class
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
Hpo Class Name
Do Class Name: genetic disease
Disease Definition: NCI2016_NCI-GLOSS_1602D:A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.|NCI2016_02D:A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.|NCI2016_02D: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 mental retardation, 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.|MSH2017_2016_08_12: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)|MEDLINEPLUS_20151021:Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development|JABL99:The most frequently occurring mental retardation/multiple anomaly syndrome usually involving more than 100 individual defects. Typical facies with upslanting palpebral fissures is the characteristic feature of this syndrome (hence the offensive designations "mongoloid idiocy" and "mongolism"). A wide range other defects, such as congenital heart diseases, respiratory disorders, and leukemia, may be associated. Down syndrome patients who survive into late adulthood may develop Alzheimer syndrome.|CSP2006: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 mental retardation.
Version: v1,v2
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Down Syndrome

Role

preferred

Name

Down Syndrome Critical Region

Role

preferred

Name

Leukemia, Megakaryoblastic, Of Down Syndrome

Role

preferred

Name

Transient Myeloproliferative Disorder Of Down Syndrome

Role

preferred

Name

Down Syndrome, Partial Trisomy 21

Role

preferred

Name

Trisomy 21, Meiotic Nondisjunction

Role

preferred

Name

Trisomy 21, Mitotic Nondisjunction

Role

preferred

Name

Down'S Syndrome

Role

alias

Name

Down'S Syndrome, Unspecified

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Herb

HBDIS000821HBDIS009459HBDIS009460HBDIS011155HBDIS017797HBDIS017798HBDIS017799

Me Sh

D004314

Umls

C0013080C1860786C1860787C1860788C1860789

Icd10

Q90Q90.0Q90.9

Sym Map

SMDE04244SMDE08018SMDE10397SMDE13976

Do Class

DOID:630

Dis Ge Net

C0013080C0432416C0432417C0751081C1860787C1860788C1860789

Umls Sty

T047T191

Me Sh Class

C04C10C15C16

Etcm Disease

Down Syndrome

Tcmbank Disease

110331503021306229828963309404902

Itcmdb Generated

ITX-DISEASE-2D994CF9BCB6ITX-DISEASE-71B57AB7AD13

Attributes

Merged source attributes and domain-specific metadata.

Version

v1,v2v2

Suppress

Page Title

Disease Down Syndrome Details page

Do Class Name

genetic disease

Disease Type

disease

Do Disease Class

genetic disease

Umls Disease Type

Disease or SyndromeNeoplastic Process

Basic Information

Disease Name

Down Syndrome

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Cardiovascular diseases;Eye diseases;Neuronal diseases

Disease Definition

NCI2016_NCI-GLOSS_1602D:A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.|NCI2016_02D:A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.|NCI2016_02D: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 mental retardation, 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.|MSH2017_2016_08_12: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)|MEDLINEPLUS_20151021:Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different. People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton. The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives. NIH: National Institute of Child Health and Human Development|JABL99:The most frequently occurring mental retardation/multiple anomaly syndrome usually involving more than 100 individual defects. Typical facies with upslanting palpebral fissures is the characteristic feature of this syndrome (hence the offensive designations "mongoloid idiocy" and "mongolism"). A wide range other defects, such as congenital heart diseases, respiratory disorders, and leukemia, may be associated. Down syndrome patients who survive into late adulthood may develop Alzheimer syndrome.|CSP2006: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 mental retardation.

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms

Dis Ge Net Disease Type

disease

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases

Umls Semantic Type Name

Disease or SyndromeNeoplastic Process