Preferred Name

LAMIN A/C

Synonyms

RESTRICTIVE DERMOPATHY 2

ID

http://purl.bioontology.org/ontology/OMIM/150330

altLabel

RESTRICTIVE DERMOPATHY 2

LMNA

LAMIN C

HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2

EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT

MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED

LMNC

CARDIOMYOPATHY, DILATED, 1A

CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM

HUTCHINSON-GILFORD PROGERIA SYNDROME

PROGERIN

HEART-HAND SYNDROME, SLOVENIAN TYPE

LAMIN A

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL

EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT

EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE

HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

PRELAMIN A

cui

C0033300

C2750785

C4016241

C2750035

C1857829

C1416877

C5676942

C1854154

C1720860

C4016243

C5399785

C0410190

C0796031

C1449563

Gene Locus

1q21.2

Gene Symbol

LMN1

LMNA

FPLD2

CMD1A

EMD2

HGPS

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/150330.0048

http://purl.bioontology.org/ontology/OMIM/150330.0046

http://purl.bioontology.org/ontology/OMIM/150330.0027

http://purl.bioontology.org/ontology/OMIM/150330.0007

http://purl.bioontology.org/ontology/OMIM/150330.0009

http://purl.bioontology.org/ontology/OMIM/150330.0028

http://purl.bioontology.org/ontology/OMIM/150330.0008

http://purl.bioontology.org/ontology/OMIM/150330.0053

http://purl.bioontology.org/ontology/OMIM/150330.0055

http://purl.bioontology.org/ontology/OMIM/150330.0003

http://purl.bioontology.org/ontology/OMIM/150330.0016

http://purl.bioontology.org/ontology/OMIM/150330.0047

http://purl.bioontology.org/ontology/OMIM/150330.0029

http://purl.bioontology.org/ontology/OMIM/150330.0050

http://purl.bioontology.org/ontology/OMIM/150330.0030

http://purl.bioontology.org/ontology/OMIM/150330.0010

http://purl.bioontology.org/ontology/OMIM/150330.0011

http://purl.bioontology.org/ontology/OMIM/150330.0024

http://purl.bioontology.org/ontology/OMIM/150330.0005

http://purl.bioontology.org/ontology/OMIM/150330.0004

http://purl.bioontology.org/ontology/OMIM/150330.0051

http://purl.bioontology.org/ontology/OMIM/150330.0031

http://purl.bioontology.org/ontology/OMIM/150330.0052

http://purl.bioontology.org/ontology/OMIM/150330.0018

http://purl.bioontology.org/ontology/OMIM/150330.0032

http://purl.bioontology.org/ontology/OMIM/150330.0013

http://purl.bioontology.org/ontology/OMIM/150330.0012

http://purl.bioontology.org/ontology/OMIM/150330.0043

http://purl.bioontology.org/ontology/OMIM/150330.0044

http://purl.bioontology.org/ontology/OMIM/150330.0025

http://purl.bioontology.org/ontology/OMIM/150330.0023

http://purl.bioontology.org/ontology/OMIM/150330.0026

http://purl.bioontology.org/ontology/OMIM/150330.0045

http://purl.bioontology.org/ontology/OMIM/150330.0056

http://purl.bioontology.org/ontology/OMIM/150330.0058

http://purl.bioontology.org/ontology/OMIM/150330.0006

http://purl.bioontology.org/ontology/OMIM/150330.0036

http://purl.bioontology.org/ontology/OMIM/150330.0038

http://purl.bioontology.org/ontology/OMIM/150330.0057

http://purl.bioontology.org/ontology/OMIM/150330.0039

http://purl.bioontology.org/ontology/OMIM/150330.0037

http://purl.bioontology.org/ontology/OMIM/150330.0019

http://purl.bioontology.org/ontology/OMIM/150330.0017

http://purl.bioontology.org/ontology/OMIM/150330.0049

http://purl.bioontology.org/ontology/OMIM/150330.0040

http://purl.bioontology.org/ontology/OMIM/150330.0021

http://purl.bioontology.org/ontology/OMIM/150330.0020

http://purl.bioontology.org/ontology/OMIM/150330.0001

http://purl.bioontology.org/ontology/OMIM/150330.0022

http://purl.bioontology.org/ontology/OMIM/150330.0041

http://purl.bioontology.org/ontology/OMIM/150330.0002

http://purl.bioontology.org/ontology/OMIM/150330.0054

http://purl.bioontology.org/ontology/OMIM/150330.0034

http://purl.bioontology.org/ontology/OMIM/150330.0014

http://purl.bioontology.org/ontology/OMIM/150330.0033

http://purl.bioontology.org/ontology/OMIM/150330.0035

http://purl.bioontology.org/ontology/OMIM/150330.0015

http://purl.bioontology.org/ontology/OMIM/150330.0042

MIMTYPEMEANING

Gene with known sequence

notation

150330

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

LAMIN A/C

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D011371 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535852 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535705 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0033300 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/MESH/D000083144 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.8 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/MESH/C567633 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C567708 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D002311 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C537990 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C136976 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/LNC/LP33146-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/C535703 Medical Subject Headings / 医学主题词表 CUI
http://www.orpha.net/ORDO/Orphanet_123090 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D052496 Medical Subject Headings / 医学主题词表 CUI