Preferred Name

TRANSFORMING GROWTH FACTOR, BETA-1

Synonyms

INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY

ID

http://purl.bioontology.org/ontology/OMIM/190180

altLabel

INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY

BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO

CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF

TGFB1

CAMURATI-ENGELMANN DISEASE

TGF-BETA

TGFB

cui

C4016407

C1366557

C4748708

C1968974

C0011989

Gene Locus

19q13.1

Gene Symbol

CED

TGFB1

DPD1

IBDIMDE

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/190180.0007

http://purl.bioontology.org/ontology/OMIM/190180.0002

http://purl.bioontology.org/ontology/OMIM/190180.0010

http://purl.bioontology.org/ontology/OMIM/190180.0004

http://purl.bioontology.org/ontology/OMIM/190180.0003

http://purl.bioontology.org/ontology/OMIM/190180.0008

http://purl.bioontology.org/ontology/OMIM/190180.0009

http://purl.bioontology.org/ontology/OMIM/190180.0001

http://purl.bioontology.org/ontology/OMIM/190180.0005

http://purl.bioontology.org/ontology/OMIM/190180.0006

MIMTYPEMEANING

Gene with known sequence

notation

190180

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFORMING GROWTH FACTOR, BETA-1

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_120047 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D053773 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q78.3 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LP64930-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU026386 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D003966 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20457 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10/Q78.3 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bmicc.cn/ontology/ICD10CN/Q78.3 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI