DiseaseID 4582
多发性内分泌腺瘤病2型
disease
NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.|MSH2017_2016_08_12:A f
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 12Target: 8Links: 20
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4582
- Core Entity Id
- 60953
- Source Entity Count
- 1
- Preferred Name
- Multiple Endocrine Neoplasia Type 2
- Name Cn
- 多发性内分泌腺瘤病2型
- Name Pinyin
- Duo Fa Xing Nei Fen Mi Xian Liu Bing 2 Xing
- Name En
- Multiple Endocrine Neoplasia Type 2
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Finding
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
- Do Class
- disease of anatomical entity; genetic disease; disease of cellular proliferationgenetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
- Hpo Class Name
- Do Class Name
- genetic diseasegenetic disease; disease of anatomical entity; disease of cellular proliferation
- Disease Definition
- NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.|MSH2017_2016_08_12:A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Multiple Endocrine Neoplasia Type 2
Role
preferred
Name
Familial Medullary Thyroid Carcinoma
Role
preferred
Name
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
Role
preferred
Name
Multiple Endocrine Neoplasia Type 2A
Role
preferred
Name
THYROID CARCINOMA, SPORADIC MEDULLARY
Role
preferred
Name
Multiple Endocrine Neoplasia, Type Iia
Role
alias
Name
Thyroid Carcinoma, Familial Medullary
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001904HBDIS015205HBDIS015206HBDIS022796HBDIS025309
Me Sh
D018813
Omim
142623155240171400
Umls
C3888239
Icd10
E31.22
Sym Map
SMDE09484SMDE11149
Do Class
DOID:14566DOID:630DOID:7
Dis Ge Net
C0025268C1833921C1833929C3888239C4048306
Umls Sty
T033T191
Me Sh Class
C04C16C19
Tcmbank Disease
1944520518795196059893
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Do Class Name
genetic diseasegenetic disease; disease of anatomical entity; disease of cellular proliferation
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease; disease of cellular proliferationgenetic disease
Umls Disease Type
FindingNeoplastic Process
Disease Definition
NCI2016_02D:Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.|MSH2017_2016_08_12:A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
Umls Semantic Type Name
FindingNeoplastic Process