DiseaseID 10097
交界性大疱性表皮松解症I型
disease
Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrop
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Disease: 1Symptom: 7Target: 24Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 10097
- Core Entity Id
- 67262
- Source Entity Count
- 1
- Preferred Name
- Jeb-I
- Name Cn
- 交界性大疱性表皮松解症I型
- Name Pinyin
- Jiao Jie Xing Da Pao Xing Biao Pi Song Jie Zheng I Xing
- Name En
- Jeb-I
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrop
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Jeb-I
Role
preferred
Name
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Role
preferred
Name
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type
Role
preferred
Name
Junctional Epidermolysis Bullosa Inversa
Role
preferred
Name
Late-Onset Junctional Epidermolysis Bullosa
Role
preferred
Name
Adult Junctional Epidermolysis Bullosa (Disorder)
Role
preferred
Name
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)
Role
preferred
Name
Epidermolysis Bullosa Inversa Dystrophica
Role
preferred
Name
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Role
preferred
Name
Epidermolysis Bullosa Progressiva
Role
preferred
Name
Epidermolysis Bullosa With Pyloric Atresia
Role
preferred
Name
Herlitz Disease
Role
preferred
Name
Junctional Epidermolysis Bullosa
Role
preferred
Name
Kindler Syndrome
Role
preferred
Name
Other Epidermolysis Bullosa
Role
preferred
Name
EB Progressive
Role
alias
Name
EBJ-I
Role
alias
Name
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
Role
alias
Name
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, NON-HERLITZ TYPE
Role
alias
Name
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
Role
alias
Name
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
Role
alias
Name
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
Role
alias
Name
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
Role
alias
Name
Epidermolysis Bullosa Letalis
Role
alias
Name
Epidermolysis Bullosa, Junctional
Role
alias
Name
Epidermolysis Bullosa, Junctional, Herlitz Type
Role
alias
Name
Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
Role
alias
Name
GABEB
Role
alias
Name
Generalized Atrophic Benign Epidermolysis Bullosa
Role
alias
Name
Inverse JEB
Role
alias
Name
JEB-lo
Role
alias
Name
JEB-nH Gen
Role
alias
Name
Junctional Epidermolysis Bullosa Generalisata Mitis
Role
alias
Name
Junctional Epidermolysis Bullosa Herlitz Type
Role
alias
Name
Junctional Epidermolysis Bullosa Non-Herlitz Type
Role
alias
Name
Junctional Epidermolysis Bullosa With Pyloric Atresia
Role
alias
Name
Junctional Epidermolysis Bullosa, Disentis Type
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003188HBDIS003191HBDIS003203HBDIS006282HBDIS009719HBDIS017360HBDIS019202HBDIS019272HBDIS019273HBDIS026195
Me Sh
D016109
Omim
226650226700226730
Umls
C0079297C0079301C0268374C0406557C1856934C2608084C2673609C2673610
Icd10
Q81.1Q81.8
Sym Map
SMDE00002SMDE00846SMDE01232SMDE01959SMDE02815SMDE03851
Do Class
DOID:630DOID:7
Dis Ge Net
C0079297C0079301C0079683C0268374C0478085C1856934C2608084C2673609C2673610C4304724
Orphanet
290879402794037940579406
Umls Sty
T019T047
Me Sh Class
C16C17
Etcm Disease
Epidermolysis Bullosa Junctionalis with Pyloric AtresiaEpidermolysis Bullosa, Junctional, Non-Herlitz TypeKindler SyndromeLate-Onset Junctional Epidermolysis Bullosa
Tcmbank Disease
1047511303138526300286423693559778686509712
Itcmdb Generated
ITX-DISEASE-488B4A5BB0F8ITX-DISEASE-575091635B5EITX-DISEASE-6B2528DAD75CITX-DISEASE-7FE56C8CCA32ITX-DISEASE-A4B85E443F98ITX-DISEASE-BB6712601ECD
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Epidermolysis Bullosa Junctionalis with Pyloric Atresia Details pageDisease Epidermolysis Bullosa, Junctional, Non-Herlitz Type Details pageDisease Kindler Syndrome Details pageDisease Late-Onset Junctional Epidermolysis Bullosa Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Epidermolysis Bullosa Junctionalis with Pyloric Atresia
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Oral diseases;Skin diseases
Disease Name
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Oral diseases;Skin diseases
Disease Name
Kindler Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Late-Onset Junctional Epidermolysis Bullosa
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Oral diseases;Skin diseases
Disease Definition
Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atropJunctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin siteKindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome