DiseaseID 11211
马登-沃克综合征
disease
JABL99:A constellation of immobile facies, blepharophimosis, micrognathia, microcephaly, midfacial hypoplasia, multiple contractures, hypotonia, arachnodactyly, developmental delay, and other anomalies.
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Symptom: 5Target: 17Links: 29
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11211
- Core Entity Id
- 68572
- Source Entity Count
- 1
- Preferred Name
- Marden-Walker Syndrome
- Name Cn
- 马登-沃克综合征
- Name Pinyin
- Ma Deng - Wo Ke Zong He Zheng
- Name En
- Marden-Walker Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:A constellation of immobile facies, blepharophimosis, micrognathia, microcephaly, midfacial hypoplasia, multiple contractures, hypotonia, arachnodactyly, developmental delay, and other anomalies.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Marden-Walker Syndrome
Role
preferred
Name
MWKS
Role
alias
Name
MWS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011678
Omim
248700
Umls
C0796033
Sym Map
SMDE04228
Dis Ge Net
C0796033
Umls Sty
T047
Me Sh Class
C05C11C16C17
Etcm Disease
Marden-Walker Syndrome
Tcmbank Disease
12354
Itcmdb Generated
ITX-DISEASE-D0F1C003E5D0
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Marden-Walker Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Marden-Walker Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Neuronal diseases
Disease Definition
JABL99:A constellation of immobile facies, blepharophimosis, micrognathia, microcephaly, midfacial hypoplasia, multiple contractures, hypotonia, arachnodactyly, developmental delay, and other anomalies.
Me Sh Disease Class
Eye Diseases; Skin and Connective Tissue 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; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
Umls Semantic Type Name
Disease or Syndrome