DiseaseID 16925
3q29染色体缺失综合征
disease
SNOMEDCT_US_2016_09_01:A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 5Target: 18Links: 29
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16925
- Core Entity Id
- 75070
- Source Entity Count
- 1
- Preferred Name
- Chromosome 3Q29 Deletion Syndrome
- Name Cn
- 3q29染色体缺失综合征
- Name Pinyin
- 3q29 Ran Se Ti Que Shi Zong He Zheng
- Name En
- Chromosome 3Q29 Deletion Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Chromosome 3Q29 Deletion Syndrome
Role
preferred
Name
Chromosome 3Q29 Microdeletion Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS019337
Umls
C2674949
Sym Map
SMDE07141
Do Class
DOID:630
Dis Ge Net
C2674949
Umls Sty
T047
Me Sh Class
C10C23F01F03
Etcm Disease
Chromosome 3q29 Deletion Syndrome
Tcmbank Disease
2043
Itcmdb Generated
ITX-DISEASE-986CF1CCB486
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Chromosome 3q29 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 3q29 Deletion Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Gastrointestinal Diseases;Mental diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. It has been described in 23 patients. The clinical phenotype is extremely variable. The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly rotated ears and high nasal bridge. Autism and gait ataxia have been noted occasionally. The syndrome is caused by a recurrent deletion of the 3q subtelomeric region. Most of the deletions appear de novo but a few of them were inherited from mildly or non-affected parents.
Me Sh Disease Class
Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome