DiseaseID 7215
德桑克蒂斯-卡基奥内综合征
disease
NCI2016_02D:A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Relationship Network
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Disease: 1Symptom: 12Target: 18Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7215
- Core Entity Id
- 63974
- Source Entity Count
- 1
- Preferred Name
- De Sanctis-Cacchione Syndrome
- Name Cn
- 德桑克蒂斯-卡基奥内综合征
- Name Pinyin
- De Sang Ke Di Si - Ka Ji Ao Nei Zong He Zheng
- Name En
- De Sanctis-Cacchione Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Endocrine System Diseases; Mental Disorders; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; 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; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
De Sanctis-Cacchione Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS005747
Omim
278800
Umls
C0265201
Sym Map
SMDE01085
Dis Ge Net
C0265201
Umls Sty
T047
Me Sh Class
C04C05C10C16C17C18C19C23F01F03
Etcm Disease
De Sanctis-Cacchione Syndrome
Tcmbank Disease
14958
Itcmdb Generated
ITX-DISEASE-5E9101E00A5B
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease De Sanctis-Cacchione Syndrome Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
De Sanctis-Cacchione Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Me Sh Disease Class
Endocrine System Diseases; Mental Disorders; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Skin and Connective Tissue Diseases; 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; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Disease or Syndrome