DiseaseID 5787
帕陶综合征
disease
NCI2016_02D:A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, micr
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Disease: 1Symptom: 1Target: 11Links: 12
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5787
- Core Entity Id
- 62342
- Source Entity Count
- 1
- Preferred Name
- Patau Syndrome
- Name Cn
- 帕陶综合征
- Name Pinyin
- Pa Tao Zong He Zheng
- Name En
- Patau Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.|JABL99:The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most frequent causes of perinatal deaths.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Patau Syndrome
Role
preferred
Name
Trisomy 13 Syndrome
Role
preferred
Name
Complete Trisomy 13 Syndrome
Role
alias
Name
Patau'S Syndrome, Unspecified
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003669HBDIS026455
Me Sh
D000073839
Umls
C0152095
Icd10
Q91.7
Sym Map
SMDE11990
Do Class
DOID:630
Dis Ge Net
C0152095C4319808
Umls Sty
T019T047
Me Sh Class
C10C14C16
Tcmbank Disease
1370630758
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Disease Definition
NCI2016_02D:A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.|JABL99:The presence of an additional (third) chromosome on an otherwise diploid chromosome 13 with variable abnormalities, most characteristic of which are microcephaly, microphthalmia, hypertelorism, cleft lip or palate, polydactyly, and cardiovascular, genitourinary, and neurological abnormalities. It is one of the most frequent causes of perinatal deaths.
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome