DiseaseID 4487
Urbach-Wiethe类脂蛋白沉积症
disease
NCI2016_CDISC_1602D:The abnormal, excessive accumulation of acellular, periodic acid-Schiff positive, pale eosinophilic material (lipoprotein-type). This is typically found in the pulmonary alveoli.|NCI2016_02D:A rare, a
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Disease: 1Symptom: 10Target: 17Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4487
- Core Entity Id
- 60842
- Source Entity Count
- 1
- Preferred Name
- Lipoid Proteinosis of Urbach And Wiethe
- Name Cn
- Urbach-Wiethe类脂蛋白沉积症
- Name Pinyin
- Urbach-wiethe Lei Zhi Dan Bai Chen Ji Zheng
- Name En
- Lipoid Proteinosis of Urbach And Wiethe
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_CDISC_1602D:The abnormal, excessive accumulation of acellular, periodic acid-Schiff positive, pale eosinophilic material (lipoprotein-type). This is typically found in the pulmonary alveoli.|NCI2016_02D:A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid beading, skin lesions, and seizures.|MSH2017_2016_08_12:An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lipoid Proteinosis of Urbach And Wiethe
Role
preferred
Name
Lipoid Proteinosis
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001753
Me Sh
D008065
Omim
247100
Umls
C0023795
Icd10
E78.8
Sym Map
SMDE00304
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0023795
Orphanet
530
Umls Sty
T047
Me Sh Class
C08C16
Etcm Disease
Lipoid Proteinosis of Urbach and Wiethe
Tcmbank Disease
9788
Itcmdb Generated
ITX-DISEASE-BB772F7E75B7
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Lipoid Proteinosis of Urbach and Wiethe Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Lipoid Proteinosis of Urbach and Wiethe
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases;Skin diseases
Disease Definition
NCI2016_CDISC_1602D:The abnormal, excessive accumulation of acellular, periodic acid-Schiff positive, pale eosinophilic material (lipoprotein-type). This is typically found in the pulmonary alveoli.|NCI2016_02D:A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid beading, skin lesions, and seizures.|MSH2017_2016_08_12:An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
Umls Semantic Type Name
Disease or Syndrome