DiseaseID 15028
花斑非整倍体嵌合综合征
disease
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Relationship Network
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Disease: 1Formula: 5Symptom: 12Target: 23Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15028
- Core Entity Id
- 72902
- Source Entity Count
- 1
- Preferred Name
- Mosaic Variegated Aneuploidy Syndrome
- Name Cn
- 花斑非整倍体嵌合综合征
- Name Pinyin
- Hua Ban Fei Zheng Bei Ti Qian He Zong He Zheng
- Name En
- Mosaic Variegated Aneuploidy Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Cell or Molecular Dysfunction
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Do Class
- syndrome; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
- Hpo Class Name
- Do Class Name
- genetic disease; syndrome
- Disease Definition
- Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mosaic Variegated Aneuploidy Syndrome
Role
preferred
Name
Paternal Uniparental Disomy Of Chromosome 6
Role
preferred
Name
Chromosomal Mosaicism Due To Mitotic Instability
Role
preferred
Name
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
Role
preferred
Name
Microduplication Xp11.22-P11.23 Syndrome
Role
preferred
Name
Mosaic Variegated Aneuplody Microcephaly Syndrome
Role
preferred
Name
Mosaic Variegated Aneuploidy Syndrome 1
Role
preferred
Name
Xq27.3Q28 Duplication Syndrome
Role
preferred
Name
UPD(6)pat
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016701HBDIS020289HBDIS027065HBDIS027361HBDIS028153
Omim
257300617598
Umls
C1850343C2749022C2931286
Icd10
Q99.8
Sym Map
SMDE00841SMDE02170SMDE02927SMDE03298SMDE04812SMDE11089
Do Class
DOID:225DOID:630
Dis Ge Net
C1850343C2931383C4539839C4551972C4749378
Orphanet
105221737726148396191
Umls Sty
T047T049
Me Sh Class
C04C16
Etcm Disease
Mosaic Variegated Aneuploidy SyndromeMosaic Variegated Aneuploidy Syndrome 1Mosaic Variegated Aneuploidy Syndrome 3
Tcmbank Disease
131731808823593277444787
Itcmdb Generated
ITX-DISEASE-050A9F03FAD1ITX-DISEASE-548F597D5E8AITX-DISEASE-5BF0B50B1D20ITX-DISEASE-C877FE356635
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Mosaic Variegated Aneuploidy Syndrome 1 Details pageDisease Mosaic Variegated Aneuploidy Syndrome 3 Details pageDisease Mosaic Variegated Aneuploidy Syndrome Details page
Do Class Name
genetic disease; syndrome
Disease Type
diseasephenotype
Do Disease Class
syndrome; genetic disease
Umls Disease Type
Cell or Molecular DysfunctionDisease or Syndrome
Basic Information
Disease Name
Mosaic Variegated Aneuploidy Syndrome
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Mosaic Variegated Aneuploidy Syndrome 1
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Mosaic Variegated Aneuploidy Syndrome 3
Global Category
Cancer diseases;Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
Umls Semantic Type Name
Cell or Molecular DysfunctionDisease or Syndrome