DiseaseID 3424
基底细胞痣综合征
disease
NCI2016_NCI-GLOSS_1602D:A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell car
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Disease: 1Symptom: 4Target: 20Links: 28
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3424
- Core Entity Id
- 59629
- Source Entity Count
- 1
- Preferred Name
- Basal Cell Nevus Syndrome
- Name Cn
- 基底细胞痣综合征
- Name Pinyin
- Ji Di Xi Bao Zhi Zong He Zheng
- Name En
- Basal Cell Nevus Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Neoplastic Process
- Disgenet Type
- disease
- Mesh Class
- Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- NCI2016_NCI-GLOSS_1602D:A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.|NCI2016_02D:An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.|MSH2017_2016_08_12:Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.|JABL99:A syndrome of nevoid basal cell carcinomas, odontogenic keratocysts of the jaws, skeletal anomalies, and intracranial calcifications with more than 100 different signs and symptoms occurring in variable clusters. Basal-cell carcinoma, although the primary characteristic of this syndrome, may not be present in all affected adults. The syndrome occurs in about 1 in 200 patients with basal-cell carcinoma. Mental retardation complicates about 5%. Basal-cell carcinoma associated with coarse sparse hair and milia is referred to as the Bazex syndrome.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Basal Cell Nevus Syndrome
Role
preferred
Name
Nevoid Basal Cell Carcinoma Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000304
Me Sh
D001478
Omim
109400
Sym Map
SMDE05114
Do Class
DOID:630
Dis Ge Net
C0004779
Umls Sty
T191
Me Sh Class
C04C05C07C16
Etcm Disease
Basal Cell Nevus Syndrome
Tcmbank Disease
27736
Itcmdb Generated
ITX-DISEASE-6BC6333B5423
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Basal Cell Nevus Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Neoplastic Process
Basic Information
Disease Name
Basal Cell Nevus Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases;Skin diseases
Disease Definition
NCI2016_NCI-GLOSS_1602D:A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.|NCI2016_02D:An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.|MSH2017_2016_08_12:Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.|JABL99:A syndrome of nevoid basal cell carcinomas, odontogenic keratocysts of the jaws, skeletal anomalies, and intracranial calcifications with more than 100 different signs and symptoms occurring in variable clusters. Basal-cell carcinoma, although the primary characteristic of this syndrome, may not be present in all affected adults. The syndrome occurs in about 1 in 200 patients with basal-cell carcinoma. Mental retardation complicates about 5%. Basal-cell carcinoma associated with coarse sparse hair and milia is referred to as the Bazex syndrome.
Me Sh Disease Class
Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
Umls Semantic Type Name
Neoplastic Process