Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

LAMIN A/C
Synonyms

HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET

RESTRICTIVE DERMOPATHY 2

PRELAMIN A

HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL

LAMIN A

HEART-HAND SYNDROME, SLOVENIAN TYPE

EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT

PROGERIN

MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED

LMNA

LAMIN C

HUTCHINSON-GILFORD PROGERIA SYNDROME

EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE

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

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2

CARDIOMYOPATHY, DILATED, 1A

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM

EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT

LMNC

ID

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

altLabel

HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET

RESTRICTIVE DERMOPATHY 2

PRELAMIN A

HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL

LAMIN A

HEART-HAND SYNDROME, SLOVENIAN TYPE

EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT

PROGERIN

MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED

LMNA

LAMIN C

HUTCHINSON-GILFORD PROGERIA SYNDROME

EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE

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

LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2

CARDIOMYOPATHY, DILATED, 1A

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM

EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT

LMNC

cui

C0796031

C1416877

C0033300

C1720860

C5399785

C1857829

C2750035

C1854154

C0410190

C2750785

C1449563

C4016243

C4016241

C5676942

Gene Locus

1q21.2

Gene Symbol

HGPS

EMD2

LMNA

LMN1

CMD1A

FPLD2

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

150330

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

LAMIN A/C

tui

T047

T033

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/719451006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/LNC/LP33146-9 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D011371 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715439000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1003431005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/721014007 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C567633 MESH CUI
http://purl.bioontology.org/ontology/MESH/C537990 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/1010712009 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C567708 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D3-21110 SNMI CUI
http://purl.bioontology.org/ontology/MESH/C535703 MESH CUI
http://purl.bioontology.org/ontology/RCD/C1zy1 RCD CUI
http://purl.bioontology.org/ontology/RCD/X50DV RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10036794 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10036794 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D4-00401 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238870004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/238870004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10036794 MEDDRA CUI
http://purl.bioontology.org/ontology/CST/GROWTH%20ACCELER COSTART CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0033300 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICD10CM/E34.8 ICD10CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D011371 MSHFRE CUI
http://purl.bioontology.org/ontology/CSP/0071-4237 CRISP CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002495 NDFRT CUI
http://purl.bioontology.org/ontology/MESH/D052496 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/715439000 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D052496 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/C535705 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/1003431005 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C535852 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/721014007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/725048002 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/725048002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1010712009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X708j RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D000083144 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D000083144 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/771272007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/771272007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/4007-0061 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D002311 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/53043001 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D002311 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/53043001 SNOMEDCT CUI
http://purl.org/skeletome/bonedysplasia#P000104 BDO LOOM
http://www.orpha.net/ORDO/Orphanet_123090 ORDO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16364 HRDO LOOM
http://purl.obolibrary.org/obo/NCIT_C136976 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C136976 NCIT LOOM