DiseaseID 904
Knobloch综合征
disease
JABL99:Mental retardation, hypotonicity, incontinence, muscle atrophy, and inability to walk or speak originally reported in 7 males in 2 generations.
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Disease: 1Symptom: 4Target: 21Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 904
- Core Entity Id
- 1019
- Source Entity Count
- 1
- Preferred Name
- Knobloch Syndrome
- Name Cn
- Knobloch综合征
- Name Pinyin
- Knobloch Zong He Zheng
- Name En
- Knobloch Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- JABL99:Mental retardation, hypotonicity, incontinence, muscle atrophy, and inability to walk or speak originally reported in 7 males in 2 generations.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Knobloch Syndrome
Role
preferred
Name
Knobloch Syndrome 1
Role
preferred
Name
Knobloch Syndrome, Type I
Role
preferred
Name
KNO
Role
alias
Name
KNO1
Role
alias
Name
Knobloch-Layer Syndrome
Role
alias
Name
RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
Role
alias
Name
Retinal Detachment-occipital Encephalocele Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016612HBDIS027308
Omim
267750
Umls
C1849409
Icd10
Q15.8
Sym Map
SMDE03646SMDE04884
Dis Ge Net
C1849409C4551775
Orphanet
1571
Umls Sty
T047
Me Sh Class
C10C11C16C23
Etcm Disease
Knobloch Syndrome 1
Tcmbank Disease
121324047
Itcmdb Generated
ITX-DISEASE-6AC6C1F6D880ITX-DISEASE-A594829BED2D
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
01
Page Title
Disease Knobloch Syndrome 1 Details page
Disease Type
disease
Link Disease Id
3646.0
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Knobloch Syndrome 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases
Disease Definition
JABL99:Mental retardation, hypotonicity, incontinence, muscle atrophy, and inability to walk or speak originally reported in 7 males in 2 generations.Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.
Me Sh Disease Class
Eye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome