DiseaseID 27848
3号染色体长臂29区段重复综合征
Chromosome 3Q29 Duplication Syndrome
SNOMEDCT_US_2016_09_01:A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features ar
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Disease: 1Symptom: 2Target: 8Links: 10
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 27848
- Core Entity Id
- 120416
- Source Entity Count
- 1
- Preferred Name
- Chromosome 3Q29 Duplication Syndrome
- Name Cn
- 3号染色体长臂29区段重复综合征
- Name Pinyin
- 3 Hao Ran Se Ti Zhang Bi 29 Qu Duan Chong Fu Zong He Zheng
- Name En
- Chromosome 3Q29 Duplication Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Chromosome 3Q29 Duplication Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C2749873
Sym Map
SMDE07142
Itcmdb Generated
ITX-DISEASE-3488A08E539E
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents.