DiseaseID 5477
X连锁鱼鳞病
disease
CHV2011_02:sex linked inherited disease characterized by excessive scaling
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Disease: 1Symptom: 5Target: 17Links: 29
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5477
- Core Entity Id
- 61983
- Source Entity Count
- 1
- Preferred Name
- Ichthyosis, X-Linked
- Name Cn
- X连锁鱼鳞病
- Name Pinyin
- X Lian Suo Yu Lin Bing
- Name En
- Ichthyosis, X-Linked
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- CHV2011_02:sex linked inherited disease characterized by excessive scaling
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ichthyosis, X-Linked
Role
preferred
Name
Placental Steroid Sulfatase Deficiency
Role
preferred
Name
Steroid Sulfatase Deficiency Disease
Role
preferred
Name
X-Linked Ichthyosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS003200HBDIS019671HBDIS019691
Me Sh
D016114
Omim
308100
Umls
C2677713
Icd10
Q80.1
Sym Map
SMDE04628SMDE12200SMDE13647
Do Class
DOID:630DOID:7
Dis Ge Net
C0079588C2717836C2720163
Umls Sty
T047
Me Sh Class
C16C17C18
Etcm Disease
Ichthyosis, X-Linked
Tcmbank Disease
13001676125766
Itcmdb Generated
ITX-DISEASE-DEA8840E7655
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Ichthyosis, X-Linked 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
Disease or Syndrome
Basic Information
Disease Name
Ichthyosis, X-Linked
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Skin diseases
Disease Definition
CHV2011_02:sex linked inherited disease characterized by excessive scalingNCI2016_02D:The second most common form of ichthyosis. It is an X-linked inherited disorder with mild skin manifestations. The skin changes appear at birth and include keratinization and scaling.|MSH2017_2016_08_12:Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.|CHV2011_02:sex linked inherited disease characterized by excessive scaling|CHV2011_02:sex linked inherited disease characterized by excessive scaling|CHV2011_02:sex linked inherited disease characterized by excessive scaling|CHV2011_02:sex linked inherited disease characterized by excessive scaling|CHV2011_02:sex linked inherited disease characterized by excessive scaling|CHV2011_02:sex linked inherited disease characterized by excessive scaling
Me Sh Disease Class
Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
Umls Semantic Type Name
Disease or Syndrome