DiseaseID 9910
18号染色体短臂缺失综合征
disease
NCI2016_02D:A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation, prominent ears and ptosis.|JABL99:Deletion of the short arm of chr
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Disease: 1Symptom: 3Target: 19Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9910
- Core Entity Id
- 67047
- Source Entity Count
- 1
- Preferred Name
- Chromosome 18P Deletion Syndrome
- Name Cn
- 18号染色体短臂缺失综合征
- Name Pinyin
- 18 Hao Ran Se Ti Duan Bi Que Shi Zong He Zheng
- Name En
- Chromosome 18P Deletion 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; Pathological Conditions, Signs and Symptoms
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation, prominent ears and ptosis.|JABL99:Deletion of the short arm of chromosome 18. It is one of the most fre quently occurring chromosomal aberrations with minimal abnormalities visible at birth, which become more apparent at the age of three years. The phenotype is marked mainly by holoprosencephaly, brachycephaly, broad facies, blepharoptosis, downturned corners of the mouth, tooth abnormalities, broad neck with low posterior hairline, funnel chest, enlarged labia majora, hand abnormalities, mental retardation ranging from mild to severe, and other malformations. The phenotype varies from case to case, frequently reflecting the length and type of deletion: del(18p) mosaicism is associated with abnormalities which are similar to those in del(18p) and include microphthalmia and cataract and cyclopia may occur in del(18p) in mosaicism with dup(18p).
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Chromosome 18P Deletion Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009461
Umls
C0432442
Sym Map
SMDE07131
Do Class
DOID:630
Dis Ge Net
C0432442
Umls Sty
T047
Me Sh Class
C16C23
Etcm Disease
Chromosome 18p Deletion Syndrome
Tcmbank Disease
24249
Itcmdb Generated
ITX-DISEASE-CC56CDF58279
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Chromosome 18p Deletion Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Chromosome 18p Deletion Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Definition
NCI2016_02D:A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation, prominent ears and ptosis.|JABL99:Deletion of the short arm of chromosome 18. It is one of the most fre quently occurring chromosomal aberrations with minimal abnormalities visible at birth, which become more apparent at the age of three years. The phenotype is marked mainly by holoprosencephaly, brachycephaly, broad facies, blepharoptosis, downturned corners of the mouth, tooth abnormalities, broad neck with low posterior hairline, funnel chest, enlarged labia majora, hand abnormalities, mental retardation ranging from mild to severe, and other malformations. The phenotype varies from case to case, frequently reflecting the length and type of deletion: del(18p) mosaicism is associated with abnormalities which are similar to those in del(18p) and include microphthalmia and cataract and cyclopia may occur in del(18p) in mosaicism with dup(18p).
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Umls Semantic Type Name
Disease or Syndrome