DiseaseID 16429
体细胞Spitz痣
disease
NCI2016_02D:A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients a
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Disease: 1Symptom: 5Target: 12Links: 17
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 16429
- Core Entity Id
- 74503
- Source Entity Count
- 1
- Preferred Name
- Spitz Nevus, Somatic
- Name Cn
- 体细胞Spitz痣
- Name Pinyin
- Ti Xi Bao Spitz Zhi
- Name En
- Spitz Nevus, Somatic
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesNervous System Diseases; Musculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_02D:A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.|MSH2017_2016_08_12:Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).|JABL99:Retarded growth and mental development, coarse facies, nasal papillomata, cutis laxa of the hands and feet, and other abnormalities.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Spitz Nevus, Somatic
Role
preferred
Name
Costello Syndrome (Disorder)
Role
preferred
Name
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC
Role
preferred
Name
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
Role
preferred
Name
NEVUS SPILUS, SOMATIC
Role
preferred
Name
Costello Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS010395HBDIS018696HBDIS021148HBDIS025827HBDIS025828
Me Sh
D056685
Omim
218040
Sym Map
SMDE07594SMDE11252
Do Class
DOID:630
Dis Ge Net
C0587248C1968782C3277679C4225656C4225657
Umls Sty
T033T047T191
Me Sh Class
C05C10C16
Tcmbank Disease
1618325846313225795807
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
genetic disease
Disease Type
diseasephenotype
Do Disease Class
genetic disease
Umls Disease Type
Disease or SyndromeFindingNeoplastic Process
Disease Definition
NCI2016_02D:A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.|MSH2017_2016_08_12:Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).|JABL99:Retarded growth and mental development, coarse facies, nasal papillomata, cutis laxa of the hands and feet, and other abnormalities.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesNervous System Diseases; Musculoskeletal Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal DiseasesMusculoskeletal Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeFindingNeoplastic Process