DiseaseID 14698
Xq28三体综合征
disease
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient an
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: 1Formula: 7Symptom: 12Target: 17Links: 43
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14698
- Core Entity Id
- 72526
- Source Entity Count
- 1
- Preferred Name
- Trisomy Xq28
- Name Cn
- Xq28三体综合征
- Name Pinyin
- Xq28 San Ti Zong He Zheng
- Name En
- Trisomy Xq28
- 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 DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- disease of mental health; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- genetic disease; disease of mental health
- Disease Definition
- Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient an
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Trisomy Xq28
Role
preferred
Name
Chromosome Xq28 Duplication Syndrome
Role
preferred
Name
Lubs X-Linked Mental Retardation Syndrome
Role
preferred
Name
Syndromic X-Linked Intellectual Disability Lubs Type
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016268HBDIS019788HBDIS022084
Umls
C1846058C3714043
Sym Map
SMDE01685SMDE03401
Do Class
DOID:150DOID:630
Dis Ge Net
C1846058C2749007C3714043
Orphanet
1762
Umls Sty
T047T048
Me Sh Class
C05C10C16C23F01F03
Etcm Disease
Chromosome Xq28 Duplication SyndromeLubs X-Linked Mental Retardation Syndrome
Tcmbank Disease
131341360122405
Itcmdb Generated
ITX-DISEASE-656DDD09CECFITX-DISEASE-B05735B012E8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Chromosome Xq28 Duplication Syndrome Details pageDisease Lubs X-Linked Mental Retardation Syndrome Details page
Do Class Name
genetic disease; disease of mental health
Disease Type
diseasephenotype
Do Disease Class
disease of mental health; genetic disease
Umls Disease Type
Disease or SyndromeMental or Behavioral Dysfunction
Basic Information
Disease Name
Chromosome Xq28 Duplication Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Lubs X-Linked Mental Retardation Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Mental diseases;Neuronal diseases
Disease Definition
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient an
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or SyndromeMental or Behavioral Dysfunction