DiseaseID 9892
剥脱性鱼鳞病
disease
NCI2016_02D:A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic.|MSH2017
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Disease: 1Formula: 5Herb: 12Target: 18Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9892
- Core Entity Id
- 67026
- Source Entity Count
- 1
- Preferred Name
- Ichthyosis Exfoliativa
- Name Cn
- 剥脱性鱼鳞病
- Name Pinyin
- Bao Tuo Xing Yu Lin Bing
- Name En
- Ichthyosis Exfoliativa
- 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
- NCI2016_02D:A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic.|MSH2017_2016_08_12:An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ichthyosis Exfoliativa
Role
preferred
Name
Ichthyosis Bullosa Of Siemens
Role
preferred
Name
Bullous Congenital Ichthyosiform Erythroderma
Role
alias
Name
IBS
Role
alias
Name
ICHTHYOSIS, BULLOUS TYPE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS009436HBDIS015680
Me Sh
D053560
Omim
146800
Umls
C0432306C1838440
Sym Map
SMDE04631
Do Class
DOID:630DOID:7
Dis Ge Net
C0432306C1838440
Umls Sty
T019T047
Me Sh Class
C16C17
Etcm Disease
Ichthyosis Bullosa of Siemens
Tcmbank Disease
212343169
Itcmdb Generated
ITX-DISEASE-230F8427D4B9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Ichthyosis Bullosa of Siemens 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
Ichthyosis Bullosa of Siemens
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Skin diseases
Disease Definition
NCI2016_02D:A rare autosomal dominant inherited form of ichthyosis. It is characterized by the presence of an erythematous skin with blisters at birth. The skin subsequently becomes dry, flaky and hyperkeratotic.|MSH2017_2016_08_12:An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
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