DiseaseID 4863
佩尔格-休特异常
disease
NCI2016_02D:An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophil
Relationship Network
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Disease: 1Symptom: 7Target: 8Links: 15
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4863
- Core Entity Id
- 61277
- Source Entity Count
- 1
- Preferred Name
- Pelger-Huet Anomaly
- Name Cn
- 佩尔格-休特异常
- Name Pinyin
- Pei Er Ge - Xiu Te Yi Chang
- Name En
- Pelger-Huet Anomaly
- 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 Abnormalities; Hemic and Lymphatic Diseases
- Do Class
- genetic disease
- Hpo Class
- Abnormality of the immune system; Abnormality of blood and blood-forming tissues
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of the immune system; Abnormality of blood and blood-forming tissues
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.|MSH2017_2016_08_12:Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Pelger-Huet Anomaly
Role
preferred
Name
Hyposegmentation of Neutrophil Nuclei
Role
preferred
Name
Pseudo Pelger-Huet Anomaly
Role
preferred
Name
PHA
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0011447
Herb
HBDIS002326HBDIS020953HBDIS024355
Me Sh
D010381
Omim
169400
Umls
C0030779
Sym Map
SMDE01660
Do Class
DOID:630
Dis Ge Net
C0030779C3179244C4023351
Umls Sty
T033T047T049
Hpo Class
HP:0001871HP:0002715
Me Sh Class
C15C16
Tcmbank Disease
10444134212819
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Do Class Name
genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the immune system; Abnormality of blood and blood-forming tissues
Do Disease Class
genetic disease
Hpo Disease Class
Abnormality of the immune system; Abnormality of blood and blood-forming tissues
Umls Disease Type
Cell or Molecular DysfunctionDisease or SyndromeFinding
Disease Definition
NCI2016_02D:An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.|MSH2017_2016_08_12:Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Cell or Molecular DysfunctionDisease or SyndromeFinding