DiseaseID 6312
KBG综合征
disease
JABL99:Delayed mental development, dwarfism, craniofacial dysmorphism, tooth abnormalities, delayed bone age, and various defects involving the vertebrae and tubular bones. KBG stands for the initials of the affected pat
Relationship Network
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Disease: 1Symptom: 3Target: 22Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 6312
- Core Entity Id
- 62944
- Source Entity Count
- 1
- Preferred Name
- Kbg Syndrome
- Name Cn
- KBG综合征
- Name Pinyin
- Kbg Zong He Zheng
- Name En
- Kbg Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Mental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- syndrome
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- syndrome
- Disease Definition
- JABL99:Delayed mental development, dwarfism, craniofacial dysmorphism, tooth abnormalities, delayed bone age, and various defects involving the vertebrae and tubular bones. KBG stands for the initials of the affected patients in the original report.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Kbg Syndrome
Role
preferred
Name
KBGS
Role
alias
Name
MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004504
Omim
148050
Umls
C0220687
Sym Map
SMDE05154
Do Class
DOID:225
Dis Ge Net
C0220687
Umls Sty
T047
Me Sh Class
C05C07C10C16C23F01F03
Etcm Disease
Kbg Syndrome
Tcmbank Disease
31378
Itcmdb Generated
ITX-DISEASE-8233001E3E4E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Kbg Syndrome Details page
Do Class Name
syndrome
Disease Type
disease
Do Disease Class
syndrome
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Kbg Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases;Oral diseases
Disease Definition
JABL99:Delayed mental development, dwarfism, craniofacial dysmorphism, tooth abnormalities, delayed bone age, and various defects involving the vertebrae and tubular bones. KBG stands for the initials of the affected patients in the original report.
Me Sh Disease Class
Mental Disorders; Stomatognathic Diseases; 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; Stomatognathic Diseases; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome