DiseaseID 19157
Loeys-Dietz综合征2型
disease
NCI2016_02D:A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the a
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Disease: 1Symptom: 1Target: 3Links: 4
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 19157
- Core Entity Id
- 77648
- Source Entity Count
- 1
- Preferred Name
- Loeys-Dietz Syndrome Type 2
- Name Cn
- Loeys-Dietz综合征2型
- Name Pinyin
- Loeys-dietz Zong He Zheng 2 Xing
- Name En
- Loeys-Dietz Syndrome Type 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Loeys-Dietz Syndrome Type 2
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS022928
Umls
C3898580
Sym Map
SMDE10510
Dis Ge Net
C3898580
Umls Sty
T047
Me Sh Class
C05C14C16
Tcmbank Disease
19055
Itcmdb Generated
ITX-DISEASE-6AA7F8048529
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome