DiseaseID 11208
洛瑞-伍德综合征
disease
JABL99:A syndrome multiple epiphyseal dysplasia (MED) microcephaly, and nystagmus with retinitis pigmentosa, and mental retardation in some cases.
Relationship Network
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Disease: 1Symptom: 4Target: 2Links: 6
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11208
- Core Entity Id
- 68569
- Source Entity Count
- 1
- Preferred Name
- Lowry Wood Syndrome
- Name Cn
- 洛瑞-伍德综合征
- Name Pinyin
- Luo Rui - Wu De Zong He Zheng
- Name En
- Lowry Wood Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:A syndrome multiple epiphyseal dysplasia (MED) microcephaly, and nystagmus with retinitis pigmentosa, and mental retardation in some cases.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Lowry Wood Syndrome
Role
preferred
Name
Epiphyseal Dysplasia, Microcephaly, And Nystagmus
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS011673
Omim
226960
Umls
C0796021
Sym Map
SMDE10529
Dis Ge Net
C0796021
Umls Sty
T047
Me Sh Class
C05C10C16C23F01F03
Tcmbank Disease
24077
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disease Definition
JABL99:A syndrome multiple epiphyseal dysplasia (MED) microcephaly, and nystagmus with retinitis pigmentosa, and mental retardation in some cases.
Me Sh Disease Class
Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome