DiseaseID 150
少毛症-淋巴水肿-毛细血管扩张综合征
disease
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, part
Relationship Network
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Disease: 1Herb: 3Symptom: 2Target: 19Links: 29
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 150
- Core Entity Id
- 170
- Source Entity Count
- 1
- Preferred Name
- Hypotrichosis-Lymphedema-Telangiectasia Syndrome
- Name Cn
- 少毛症-淋巴水肿-毛细血管扩张综合征
- Name Pinyin
- Shao Mao Zheng - Lin Ba Shui Zhong - Mao Xi Xue Guan Kuo Zhang Zong He Zheng
- Name En
- Hypotrichosis-Lymphedema-Telangiectasia Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, part
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Role
preferred
Name
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Role
preferred
Name
Hypotrichosis, Lymphedema, Telangiectasia, Renal Defect Syndrome
Role
preferred
Name
GLOMERULONEPHRITIS WITH SPARSE HAIR AND TELANGIECTASES
Role
alias
Name
HLTRS
Role
alias
Name
HLTS
Role
alias
Name
Hypotrichosis-lymphedema-telangiectasia-membranoproliferative Glomerulonephritis Syndrome
Role
alias
Name
TELANGIECTATIC MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015986HBDIS026440
Omim
137940607823
Umls
C1841989C1843004
Sym Map
SMDE03931SMDE05199
Do Class
DOID:630
Dis Ge Net
C1843004C4317151
Orphanet
69735
Umls Sty
T047
Me Sh Class
C14C15C17
Etcm Disease
Hypotrichosis-Lymphedema-Telangiectasia SyndromeHypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Tcmbank Disease
126335516
Itcmdb Generated
ITX-DISEASE-73B5F678470DITX-DISEASE-D737220F0968
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Hypotrichosis-Lymphedema-Telangiectasia Syndrome Details pageDisease Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Immune diseases;Nephrological diseases
Disease Name
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Immune diseases;Nephrological diseases;Skin diseases
Disease Definition
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, part
Me Sh Disease Class
Cardiovascular Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or Syndrome