DiseaseID 9895
韦伯-科凯恩综合征
disease
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and
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Disease: 1Experiment: 1Formula: 17Herb: 12Symptom: 12Target: 24Links: 66
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9895
- Core Entity Id
- 67030
- Source Entity Count
- 1
- Preferred Name
- Weber-Cockayne Syndrome
- Name Cn
- 韦伯-科凯恩综合征
- Name Pinyin
- Wei Bo - Ke Kai En Zong He Zheng
- Name En
- Weber-Cockayne Syndrome
- 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 AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Weber-Cockayne Syndrome
Role
preferred
Name
Epidermolysis Bullosa Simplex Superficialis
Role
preferred
Name
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Role
preferred
Name
Epidermolysis Bullosa Simplex With Pyloric Atresia
Role
preferred
Name
Epidermolysis Bullosa Simplex, Autosomal Recessive 1
Role
preferred
Name
Epidermolysis Bullosa Simplex, Autosomal Recessive 2
Role
preferred
Name
Epidermolysis Bullosa Simplex, Dowling-Meara Type
Role
preferred
Name
Epidermolysis Bullosa Simplex, Ogna Type
Role
preferred
Name
Krt14-Related Epidermolysis Bullosa Simplex
Role
preferred
Name
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy
Role
preferred
Name
Epidermolysis Bullosa Herpetiformis Dowling-Meara
Role
preferred
Name
Epidermolysis Bullosa Simplex
Role
preferred
Name
Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency
Role
preferred
Name
Epidermolysis Bullosa Simplex Kobner
Role
preferred
Name
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Role
preferred
Name
Epidermolysis Bullosa, Lethal Acantholytic
Role
preferred
Name
Generalized Epidermolysis Bullosa Simplex, Non-Dowling-Meara Type
Role
preferred
Name
Localized Epidermolysis Bullosa Simplex
Role
preferred
Name
EBS WITH PYLORIC ATRESIA
Role
alias
Name
EBS-AR KRT14
Role
alias
Name
EBS-O
Role
alias
Name
EBS-PA
Role
alias
Name
EBSB1
Role
alias
Name
EBSB2
Role
alias
Name
EBSDM
Role
alias
Name
EBSMP
Role
alias
Name
EBSOG
Role
alias
Name
EBSS
Role
alias
Name
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE
Role
alias
Name
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE
Role
alias
Name
Ebsmd
Role
alias
Name
Epidermolysis Bullosa Simplex Dowling-Meara Type
Role
alias
Name
Epidermolysis Bullosa Simplex Generalized Type
Role
alias
Name
Epidermolysis Bullosa Simplex Localized Type
Role
alias
Name
Epidermolysis Bullosa Simplex Ogna Type
Role
alias
Name
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Role
alias
Name
Epidermolysis Bullosa Simplex, Generalized
Role
alias
Name
Epidermolysis Bullosa Simplex, Herpetiformis
Role
alias
Name
Epidermolysis Bullosa Simplex, Localized
Role
alias
Name
Lethal Acantholytic Epidermolysis Bullosa
Role
alias
Name
SPECKLED HYPERPIGMENTATION WITH PUNCTATE PALMOPLANTAR KERATOSES AND CHILDHOOD BLISTERING
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003187HBDIS003189HBDIS003190HBDIS003231HBDIS009439HBDIS009440HBDIS016033HBDIS018128HBDIS019498HBDIS020215HBDIS022138HBDIS022352
Me Sh
D016110
Omim
131760131800131900131950131960226670601001607600609638612138615425
Umls
C0079295C0079299C0080333C0432316C0432317C1836284C1843477C1858302C1864826C2677349C3715082C3809470
Icd10
Q81.0
Sym Map
SMDE00177SMDE00292SMDE00718SMDE00936SMDE01285SMDE01691SMDE01849SMDE02380SMDE02800SMDE03240SMDE03700SMDE04356SMDE04514
Do Class
DOID:630DOID:7
Dis Ge Net
C0079295C0079298C0079299C0080333C0432316C0432317C1843477C1864826C2677349C2931072C3715082C3809470
Orphanet
15866815868115868415868779396793977939979400794018983889839
Umls Sty
T019T047
Me Sh Class
C05C10C16C17
Etcm Disease
Epidermolysis Bullosa SimplexEpidermolysis Bullosa Simplex SuperficialisEpidermolysis Bullosa Simplex with Mottled PigmentationEpidermolysis Bullosa Simplex with Pyloric AtresiaEpidermolysis Bullosa Simplex, Autosomal Recessive 1Epidermolysis Bullosa Simplex, Autosomal Recessive 2Epidermolysis Bullosa Simplex, Dowling-Meara TypeEpidermolysis Bullosa Simplex, Ogna TypeEpidermolysis Bullosa, Lethal Acantholytic
Tcmbank Disease
100331460616881192092013224141320843322512152387261947
Itcmdb Generated
ITX-DISEASE-05EA3557D3B8ITX-DISEASE-20E55A7ED4C0ITX-DISEASE-2F7482A1D51DITX-DISEASE-6BC47FE4C550ITX-DISEASE-715E1CF21E3DITX-DISEASE-7E38E5F07021ITX-DISEASE-AF15FFB44A51ITX-DISEASE-E729A9A423D5ITX-DISEASE-EC12DA37B776
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Epidermolysis Bullosa Simplex Details pageDisease Epidermolysis Bullosa Simplex Superficialis Details pageDisease Epidermolysis Bullosa Simplex with Mottled Pigmentation Details pageDisease Epidermolysis Bullosa Simplex with Pyloric Atresia Details pageDisease Epidermolysis Bullosa Simplex, Autosomal Recessive 1 Details pageDisease Epidermolysis Bullosa Simplex, Autosomal Recessive 2 Details pageDisease Epidermolysis Bullosa Simplex, Dowling-Meara Type Details pageDisease Epidermolysis Bullosa Simplex, Ogna Type Details pageDisease Epidermolysis Bullosa, Lethal Acantholytic Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Epidermolysis Bullosa Simplex
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa Simplex Superficialis
Global Category
Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa Simplex with Mottled Pigmentation
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa Simplex with Pyloric Atresia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa Simplex, Autosomal Recessive 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa Simplex, Autosomal Recessive 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa Simplex, Dowling-Meara Type
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Oral diseases;Skin diseases
Disease Name
Epidermolysis Bullosa Simplex, Ogna Type
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Name
Epidermolysis Bullosa, Lethal Acantholytic
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Oral diseases;Skin diseases
Disease Definition
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions andEpidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absenEpidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with muEpidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticuEpidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congEpidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisEpidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering.KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral bliLocalized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurNon-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, K？bner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS,
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome