Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
Preferred Name

Fibrillin-1

Synonyms

Profibrillin-1

Definitions

A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME.

ID

http://purl.bioontology.org/ontology/MESH/D000071838

altLabel

Profibrillin-1

Profibrillin 1

Fibrillin 1

AQL

AD AE AG AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR

cui

C0297673

C0244756

DC

1

definition

A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME.

DX

20170101

HN

2017; use FIBRILLIN 1985-2016

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000032

http://purl.bioontology.org/ontology/MESH/Q000138

http://purl.bioontology.org/ontology/MESH/Q000737

http://purl.bioontology.org/ontology/MESH/Q000493

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000506

http://purl.bioontology.org/ontology/MESH/Q000819

http://purl.bioontology.org/ontology/MESH/Q000187

http://purl.bioontology.org/ontology/MESH/Q000096

http://purl.bioontology.org/ontology/MESH/Q000037

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000592

http://purl.bioontology.org/ontology/MESH/Q000528

http://purl.bioontology.org/ontology/MESH/Q000008

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000648

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000633

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000009

http://purl.bioontology.org/ontology/MESH/Q000302

http://purl.bioontology.org/ontology/MESH/Q000502

http://purl.bioontology.org/ontology/MESH/Q000494

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000600

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000172

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000627

Inverse of RB

0

Machine permutation

2017; see FIBRILLIN 1985-2016

Mapped from

http://purl.bioontology.org/ontology/MESH/C000605725

http://purl.bioontology.org/ontology/MESH/C000605724

http://purl.bioontology.org/ontology/MESH/C000605722

MDA

20160708

MMR

20160415

MN

D09.400.430.875.500

D12.776.860.300.400.500

D12.776.395.341.500

notation

D000071838

prefLabel

Fibrillin-1

TERMUI

T000896840

T000896839

T000896837

TH

NLM (1985)

tui

T116

T123

subClassOf

http://purl.bioontology.org/ontology/MESH/D000071837

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http://purl.obolibrary.org/obo/PR_000007362 Protein Ontology / 蛋白质本体 LOOM
http://purl.obolibrary.org/obo/PR_000007362 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/134797 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75338 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://www.orpha.net/ORDO/Orphanet_121752 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32596 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM