1. Gene
  2. LMNA - lamin A/C Gene

LMNA - lamin A/C Gene

Homo sapiens

Also known as FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B

Gene ID: 4000 | Gene type: protein coding

About LMNA

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,082,573-156,140,081 (from NCBI)

This gene has 42 transcripts (splice variants), 264 orthologues, 68 paralogues and is associated with 107 phenotypes. Ubiquitous expression in gall bladder (RPKM 77.9), skin (RPKM 65.3) and 25 other tissues.

Summary

The protein encoded by this gene is part of the nuclear lamina, a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, May 2022]

LMNA Products(28)

mRNA Protein Name
NM_001257374.3 NP_001244303.1 lamin isoform D
NM_001282624.2 NP_001269553.1 lamin isoform E
NM_001282625.2 NP_001269554.1 lamin isoform C
NM_001282626.2 NP_001269555.1 lamin isoform A-delta50
NM_001406983.1 NP_001393912.1 lamin isoform A
NM_001406984.1 NP_001393913.1 lamin isoform C
NM_001406985.1 NP_001393914.1 lamin isoform F
NM_001406986.1 NP_001393915.1 lamin isoform G
NM_001406987.1 NP_001393916.1 lamin isoform G
NM_001406988.1 NP_001393917.1 lamin isoform H
NM_001406989.1 NP_001393918.1 lamin isoform I
NM_001406990.1 NP_001393919.1 lamin isoform J
NM_001406991.1 NP_001393920.1 lamin isoform A
NM_001406992.1 NP_001393921.1 lamin isoform C
NM_001406993.1 NP_001393922.1 lamin isoform K
NM_001406994.1 NP_001393923.1 lamin isoform K
NM_001406995.1 NP_001393924.1 lamin isoform K
NM_001406996.1 NP_001393925.1 lamin isoform K
NM_001406997.1 NP_001393926.1 lamin isoform K
NM_001406998.1 NP_001393927.1 lamin isoform L
NM_001406999.1 NP_001393928.1 lamin isoform M
NM_001407000.1 NP_001393929.1 lamin isoform M
NM_001407001.1 NP_001393930.1 lamin isoform M
NM_001407002.1 NP_001393931.1 lamin isoform N
NM_001407003.1 NP_001393932.1 lamin isoform N
NM_005572.4 NP_005563.1 lamin isoform C
NM_170707.4 NP_733821.1 lamin isoform A
NM_170708.4 NP_733822.1 lamin isoform A-delta10

LMNA Protein Structure

Filament

Filament: Intermediate filament protein (30 - 386)

LTD

LTD: Lamin Tail Domain (432 - 545)

  • 0
  • 200
  • 400
  • 600
  • 664 a.a.
Protein Preferred Names Protein Names

lamin

70 kDa lamin

Related Diseases

Diseases Alias
Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy

Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism

Malouf Syndrome

Najjar Syndrome

Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

Cardiogenital Syndrome

Genital Anomaly With Cardiomyopathy

Cardiomyopathy With Primary Testicular Failure

Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism

Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism

Cardiomyopathy, Dilated, With Premature Ovarian Failure

Cardiomyopathy Eith Primary Testicular Failure

Congestive Cardiomyopathy With Hypergonadotropic Hypogonadism

Dilated Cardiomyopathy With Premature Ovarian Failure

CMDHH

Cardiomyopathy Congestive With Hypergonadotropic Hypogonadism

Cardiomyopathy Dilated With Premature Ovarian Failure

Lipodystrophy, Familial Partial, Type 2

FPLD2

Lipoatrophic Diabetes

Familial Partial Lipodystrophy Type 2

Familial Partial Lipodystrophy, Dunnigan Type

Fpl2

Lipoatrophic Diabetes Mellitus

Lipodystrophy, Familial Partial, Dunnigan Type

Lipodystrophy, Familial, Of Limbs And Lower Trunk

Lipodystrophy, Reverse Partial

Familial Partial Lipodystrophy Dunnigan Type

Dunnigan Syndrome

Familial Lipodystrophy Of Limbs And Lower Trunk

Reverse Partial Lipodystrophy

Lipodystrophy, Familial Partial, 2

Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules

Lipodystrophy Familial Of Limbs And Lower Trunk

Lipodystrophy Reverse Partial

Diabetes Mellitus, Lipoatrophic

Familial Partial Lipodystrophy, Type 2

Familial Generalized Lipodystrophy

Mandibuloacral Dysplasia With Type A Lipodystrophy

Mandibuloacral Dysplasia

MADA

Lipodystrophy, Type A, Associated With Mandibuloacral Dysplasia

Craniomandibular Dermatodysostosis

Mad

Mandibuloacral Dysostosis

Mandibuloacral Dysplasia Type A Lipodystrophy

Lipodystrophy Type A Associated With Mandibuloacral Dysplasia

Mandibuloacral Dysplasia With Type A Lipodystrophy Atypical

Tendinous Calcinosis Arthropathy And Progeroid Features

Mandibuloacral Dysplasia With Type A Lipodystrophy, Atypical

Dysplasia, Mandibuloacral

Dysplasia, Mandibuloacral, With Type A Lipodystrophy

Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

EDMD3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive

Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive

Emery-Dreifuss Muscular Dystrophy 3

Charcot-Marie-Tooth Disease, Axonal, Type 2b1

Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease, Type 2b1

CMT2B1

Autosomal Recessive Axonal Cmt4c1

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1

Charcot-Marie-Tooth Disease Neuronal Type 2b1

Charcot-Marie-Tooth Neuropathy Type 2b1

Charcot-Marie-Tooth Disease, Neuronal, Type 2b1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1

Charcot-Marie-Tooth Neuropathy, Type 2b1

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1

Ar-Cmt2b1

Charcot-Marie-Tooth Disease 2b1

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1

Charcot-Marie-Tooth Disease Axonal Type 2b1

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Heart-Hand Syndrome, Slovenian Type

Atriodigital Dysplasia, Slovenian Type

Cardiac Conduction Disease-Dilated Cardiomyopathy-Brachydactyly Syndrome

Heart-Hand Syndrome Slovenian Type

HHS-SLOVENIAN

Restrictive Dermopathy 2

RSDM2

Restrictive Dermopathy 2, Lethal

Restrictive Dermopathy 2 , Lethal

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Restrictive Dermopathy 1

Lethal Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Hyperkeratosis-Contracture Syndrome

Fetal Hypokinesia Sequence Due To Restrictive Dermopathy

RSDM1

Restrictive Dermopathy 1, Lethal

Restrictive Dermopathy, Lethal

Restrictive Dermopathy

Lethal Hyperkeratosis-Contracture Syndrome

Lethal Restrictive Dermopathy

Lethal Tight Skin-Contracture Syndrome

Dermopathy, Restrictive

Familial Partial Lipodystrophy

Lipodystrophy, Familial Partial

Fpld

Kobberling-Dunnigan Syndrome

Dunnigan Syndrome

Koberling-Dunnigan Syndrome

Dunnigan-Kobberling Syndrome

Fpl

Familial Partial Lipodystrophy, Type 2

Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Muscular Dystrophy, Proximal, Type 1b

Limb-Girdle Muscular Dystrophy, Type 1b

Laminopathy
Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Autosomal Recessive Axonal Hereditary Motor And Sensory Neuropathy

Ar-Cmt2

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2

Microtia

Congenital Small Ears

Hypoplasia Of Ear

Atypical Werner Syndrome

Atypical Progeroid Syndrome

Lmna-Related Cardiocutaneous Progeria Syndrome

Lcps

Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Emery-Dreifuss Muscular Dystrophy

Edmd

Emery-Dreifuss Syndrome

Muscular Dystrophy, Emery-Dreifuss

Humeroperoneal Neuromuscular Disease

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

Scapuloperoneal Syndrome, X-Linked

Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

Muscular Dystrophy, Emery-Dreifuss Type

Muscular Dystrophy Emery-Dreifuss

Dystrophy, Muscular, Emery-Dreifuss

Emd - [Emery-Dreifuss Muscular Dystrophy]

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1

Cardiomyopathy, Dilated 1b

CMD1B

Cmpd1

Cardiomyopathy, Familial Dilated

Fdc

Dilated Cardiomyopathy 1b

Familial Dilated Cardiomyopathy

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

EDMD1

Emd1

Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

X-Linked Emery-Dreifuss Muscular Dystrophy 1

Humeroperoneal Neuromuscular Disease

X-Linked Emery-Dreifuss Muscular Dystrophy

Scapuloperoneal Syndrome, X-Linked, Formerly

Humeroperoneal Neuromuscular Disease, Formerly

Scapuloperoneal Syndrome, X-Linked

Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures

Scapuloperoneal Syndrome X-Linked

X-Edmd

Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Monogenic Diabetes
Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9

Left Ventricular Noncompaction 5

Dilated Cardiomyopathy 1e

Dilated Cardiomyopathy 1s

CMD1E

Cdcd2

Cardiomyopathy, Dilated, 1y

CMD1Y

Cardiomyopathy, Dilated, 1s

CMD1S

Dilated Cardiomyopathy 1y

Dilated Cardiomyopathy With Conduction Defect 2

Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Defect 2

Cardiomyopathy Dilated With Conduction Defect Type 2

Cardiomyopathy, Dilated 1e

Cardiomyopathy, Dilated 1s

Cardiomyopathy, Dilated 1y

Left Ventricular Non-Compaction 5

LVNC5

Left Ventricular Non-Compaction 9

LVNC9

Cardiomyopathy, Dilated, Type 1e

Cardiomyopathy, Dilated, Type 1s

Cardiomyopathy, Dilated, Type 1y

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Lipodystrophy, Familial Partial, Type 1

FPLD1

Familial Partial Lipodystrophy Type 1

Familial Partial Lipodystrophy, Kobberling Type

Lipodystrophy, Familial Partial, Kobberling Type

Familial Partial Lipodystrophy Kobberling Type

Familial Partial Lipodystrophy Type Köbberling

Familial Partial Lipodystrophy, Köbberling Type

Familial Partial Lipodystrophy, Type 1

Acroosteolysis

Acro-Osteolysis

Aging
Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Brugada Syndrome 5

BRGDA5

Cardiac Conduction Defect, Nonspecific

Brugada Syndrome, Type 5

Atrioventricular Block

Av Block

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9

ARVD9

Arrhythmogenic Right Ventricular Cardiomyopathy 9

Arvc9

Familial Arrhythmogenic Right Ventricular Dysplasia 9

Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Premature Aging

Syndrome With Premature-Aging

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Cardiac Conduction Defect

Sudden Cardiac Death

Cardiac Conduction Defect, Susceptibility To

SCD

Cardiac Conduction Abnormality

Death Sudden Cardiac

Cardiac Conduction Disease

Conduction Disorder Of The Heart

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Congenital Generalized Lipodystrophy

Berardinelli-Seip Congenital Lipodystrophy

Berardinelli-Seip Syndrome

Brunzell Syndrome

Bscl

Generalized Lipodystrophy

Lipodystrophy, Congenital Generalized

Seip Syndrome

Total Lipodystrophy

Cgl

Lipoatrophic Diabetes

Lipodystrophy, Generalized, Congenital

Familial Generalized Lipodystrophy

Congenital Generalized Lipodystrophy Type 2

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome

Mdp Syndrome

Mandibular Hypoplasia-Deafness-Progeroid Syndrome

MDPL

Mdpl Syndrome

Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome

Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome

Lipodystrophy

Mandibular Hypoplasia, Deafness, Progeroid Features

Hypoplasia, Mandibular, Deafness, Progeroid Features, And Lipodystrophy Syndrome

Andibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Wiedemann-Rautenstrauch Syndrome

Neonatal Progeroid Syndrome

Neonatal Pseudo-Hydrocephalic Progeroid Syndrome

WDRTS

Progeroid Syndrome, Neonatal

Progeroid Syndrome Neonatal

Wiedemann Rautenstrauch Syndrome

Congenital Pseudohydrocephalic Progeroid Syndrome

Neonatal Pseudohydrocephalic Progeroid Syndrome

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Myopathy

Muscular Diseases

Myopathies

Pelvic Muscle Wasting
Acanthosis Nigricans

Keratosis Nigricans

An

Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia

First-Degree Atrioventricular Block

First Degree Atrioventricular Block

First Degree Heart Block

Incomplete Atrioventricular Block, First Degree

First Degree Atrioventricular Heart Block

Reynolds Syndrome

Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, And Telangiectasia

Primary Biliary Cirrhosis And Systemic Scleroderma

REYNS

Primary Biliary Cirrhosis Scleroderma Raynaud Disease And Telangiectasia

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant

ADLD

Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy

Leukodystrophy, Adult-Onset, Autosomal Dominant

Adult-Onset Autosomal Dominant Leukodystrophy

Autosomal Dominant Leukodystrophy With Autonomic Disease

Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy

Multiple Sclerosis-Like Disorder

Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly

Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease

Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type

Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms

Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy

Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset

Pelizaeus-Merzbacher Disease Autosomal Dominant

Pelizaeus-Merzbacher Disease Late-Onset Type

Adult Onset Autosomal Dominant Leukodystrophy

Lipofibromatosis-Like Neural Tumor
Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Glucose Intolerance

Glucose: Intolerance

Glucose: Malabsorption

Malabsorption Of Glucose

Impaired Glucose Tolerance

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Lipodystrophy, Familial Partial, Type 3

FPLD3

Pparg-Related Familial Partial Lipodystrophy

Familial Partial Lipodystrophy Type 3

Familial Partial Lipodystrophy Associated With Pparg Mutations

Pparg-Related Fpld

Lipodystrophy, Familial Partial, Associated With Pparg Mutations

Insulin Resistance, Severe, Digenic

Lipodystrophy, Familial Partial, 3

Familial Partial Lipodystrophy, Type 3

Hereditary Neuropathies

Hereditary Neuropathy

Teratocarcinoma

Mixed Embryonal Carcinoma And Teratoma

Complete Generalized Lipodystrophy
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4

Emery-Dreifuss Muscular Dystrophy 4 With Variable Features

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4

Emd4

Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 4

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Acquired Generalized Lipodystrophy

Lawrence Syndrome

Acquired Lipoatrophic Diabetes

Lawrence-Seip Syndrome

Familial Generalized Lipodystrophy

Second-Degree Atrioventricular Block

Second-Degree Heart Block

Second Degree Atrioventricular Block

Second Degree Atrioventricular Heart Block

Second Degree Heart Block

Incomplete Atrioventricular Block, Second Degree Nos

Second-Degree Block, Type 1 And 2

Atrioventricular Block, Type 1 And 2

Second Degree Incomplete Atrioventricular Block

Av - [Atrioventricular] Block 2nd

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Muscular Dystrophy, Limb-Girdle, Type 1f

Lgmd1f

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

LGMDD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2

Muscular Dystrophy Limb-Girdle Type 1f

Tnp03-Related Limb-Girdle Muscular Dystrophy D2

Lgmd Type 1f

Limb-Girdle Muscular Dystrophy Type 1f

Limb-Girdle Muscular Dystrophy 1f

Dystrophy, Muscular, Limb-Girdle, Type 1f

Keratosis

Actinic Keratosis

Hyperkeratosis

Lethal Restrictive Dermopathy

Hyperkeratosis-Contracture Syndrome

Tight Skin Contracture Syndrome

Tight Skin Contracture Syndrome, Lethal

Dermopathy, Restrictive, Lethal

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

EDMD5

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5

Emd5

Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Greenberg Dysplasia

Hem Dysplasia

Greenberg Skeletal Dysplasia

Hem Skeletal Dysplasia

GRBGD

Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia

Moth-Eaten Skeletal Dysplasia

Chondrodystrophy, Hydropic And Prenatally Lethal Type

Hydrops-Ectopic Calcification-Motheaten Syndrome

Skeletal Dysplasia, Greenberg Type

Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops

Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia

Hem

Hem/Greenberg Dysplasia

Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia

Atrial Standstill 1

ATRST1

Atrial Cardiomyopathy With Heart Block

Cardiomyopathy, Familial, With Conduction Disturbance

Atrial Standstill, Digenic

Familial Cardiomyopathy With Conduction Disturbance

Standstill, Atrial, Type 1

Heart Block

Cardiomyopathies

Idiopathic Cardiomyopathy

Idiopathic Cardiopathy

Primary Myocardial Disease

Primary Cardiomyopathy

Myocardiopathy

Myocardosis

Primary Idiopathic Myocardial Disease

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant

EDMD7

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7

Emery-Dreifuss Muscular Dystrophy 7, Ad

Emd7

Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant

Alopecia
Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A

Lama2-Related Muscular Dystrophy

Atrophie Blanche

Muscular Dystrophy, Congenital Merosin-Deficient

Congenital Merosin-Deficient Muscular Dystrophy 1a

Merosin-Negative Congenital Muscular Dystrophy

Muscular Dystrophy White Matter Spongiosis

Merosin Deficient Congenital Muscular Dystrophy

Muscular Dystrophy Congenital, Merosin Negative

Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

Cmd1a

Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

Congenital Muscular Dystrophy Type 1a

Laminin Alpha-2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital, Merosin-Deficient

Lama2 Md

Laminin Alpha 2 Deficiency

Laminin Alpha-2 Deficient Muscular Dystrophy

Merosin-Deficient Muscular Dystrophy

Muscular Dystrophy Due To Lama2 Deficiency

Merosin-Deficient Congenital Muscular Dystrophy 1a

Cardiomyopathy, Familial Idiopathic

Cardiac Sarcoidosis
Congestive Heart Failure

Congestive Heart Disease

Heart Failure

Cardiac Failure Congestive

Chf

Weak Heart

Heart Failure Congestive

Ccf - [Congestive Cardiac Failure]

Chf - [Congestive Heart Failure]

Congestive Cardiac Diseases

Congested Heart Failure

Congestive Cardiac Failure

Cardiac Anasarca

Cardiac Oedema

Cardiac Stasis

Cardiovascular Oedema

Cardiac Hydrops

Congestive Failure

Heart Congestion

Heart Fluid

Oedematous Heart

Intrinsic Cardiomyopathy
Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked

XMPMA

X-Linked Myopathy With Postural Muscle Atrophy

X-Linked Emery-Dreifuss Muscular Dystrophy 6

EDMD6

Emd6

Congenital Fibrosarcoma

Infantile Fibrosarcoma

Childhood Fibrosarcoma

Pediatric Fibrosarcoma

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

Muscle Tissue Disease
Lipodystrophy, Congenital Generalized, Type 2

Congenital Generalized Lipodystrophy Type 2

CGL2

Berardinelli-Seip Congenital Lipodystrophy Type 2

Berardinelli-Seip Syndrome

Brunzell Syndrome Bscl2-Related

Total Lipodystrophy And Acromegaloid Gigantism

Berardinelli-Seip Congenital Lipodystrophy, Type 2

Seip Syndrome

Berardinelli Syndrome

Lipodystrophy, Total, And Acromegaloid Gigantism

Lipoatrophic Diabetes, Congenital

Lipodystrophy, Berardinelli-Seip Congenital, Type 2

Brunzell Syndrome, Bscl2-Related

Congenital Lipoatrophic Diabetes

Congenital Generalized Lipodystrophy 2

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Buschke-Ollendorff Syndrome

BOS

Dermatoosteopoikilosis

Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis

Osteopathia Condensans Disseminata

Dermatofibrosis Lenticularis Disseminata

Disseminated Dermatofibrosis With Osteopoikilosis

Dermatofibrosis, Disseminated, With Osteopoikilosis

Osteopoikilosis With Or Without Melorheostosis

Dermatofibrosis, Disseminated With Osteopoikilosis

Dermatofibrosis Disseminata Lenticularis

Isolated Osteopoikilosis

Osteopoikilosis, Isolated

Bethlem Myopathy 1

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1

Muscular Disease
Infantile Myofibromatosis

Lipofibromatosis

Myofibromatosis

Nonencapsulated Sclerosing Carcinoma

Nonencapsulated Sclerosing Neoplasm

Papillary Carcinoma, Diffuse Sclerosing

Third-Degree Atrioventricular Block

Third Degree Atrioventricular Block

Complete Atrioventricular Block

Complete Av Block

Third-Degree Block

Complete Atrioventricular Heart Block

Complete Heart Block

Third Degree Atrioventricular Heart Block

Third Degree Heart Block

Complete Heart Block Nos

Chb - [Complete Heart Block]

Idioventricular Rhythm

Av - [Atrioventricular] Block, Complete

Osteopoikilosis

Osteopathia Condensans Disseminata

Spotted Bones

Dermatofibrosis Lenticularis Disseminata

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Slate Pneumoconiosis

Schistosis

Skin Atrophy

Atrophic Condition Of Skin

Atrophoderma

Atrophy - Skin

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy

Lgmd2a

Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2a

Pelvofemoral Muscular Dystrophy

Primary Calpainopathy

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy

Desmin-Related Myopathy

MFM1

Myopathy, Myofibrillar, Desmin-Related

Drm

Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Myofibrillar Myopathy 1

Desminopathy

Muscular Dystrophy, Limb-Girdle, Type 2r

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

Desminopathy, Primary

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

Arvd7, Formerly

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

Arvc7, Formerly

Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

Ibm1, Formerly

Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

Cmd1f And Lgmd1d, Formerly

Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

Cdcd3, Formerly

Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

Lgmd2r, Formerly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Arrhythmogenic Right Ventricular Cardiomyopathy 7

Arvc7

Arvd7

Autosomal Dominant Inclusion Body Myopathy 1

Cdcd3

Cmd1f And Lgmd1d

Desminopathy Primary

Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

Familial Arrhythmogenic Right Ventricular Dysplasia 7

Lgmd2r

Limb-Girdle Muscular Dystrophy 2r

Mfm Desmin-Related

Myopathy Myofibrillar Desmin-Related

Dystrophy, Muscular, Limb-Girdle, Type 2r

Pulmonary Plasma Cell Granuloma

Plasma Cell Granuloma, Pulmonary

Granuloma, Plasma Cell, Pulmonary

Lymphocytic Pseudotumor Of Lung

Sclerosing Hemangiocytoma Of Lung

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Holt-Oram Syndrome

HOS

Atriodigital Dysplasia

Heart-Hand Syndrome

Atrio-Digital Syndrome

Cardiac-Limb Syndrome

Heart-Hand Syndrome, Type 1

Ventriculo-Radial Syndrome

Hos1

Heart Hand Syndrome

Atrio Digital Syndrome

Hos 1

Atriodigital Dysplasia Type 1

Heart-Hand Syndrome Type 1

Holt Oram Syndrome

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1

Uhl Anomaly

Arrhythmogenic Right Ventricular Cardiomyopathy 1

Arvc1

ARVD1

Cardiomyopathy Right Ventricular Dilated

Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Diabetes Mellitus

Diabetes

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Meier-Gorlin Syndrome 5

MGORS5

Meier-Gorlin Syndrome, Type 5

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Cardiomyopathy, Dilated, 1g

Dilated Cardiomyopathy 1g

CMD1G

Cardiomyopathy, Dilated 1g

Cardiomyopathy, Dilated, Type 1g

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Cardiac Tuberculosis

Tuberculosis, Cardiovascular

Cardiovascular Tuberculosis

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

Supine Hypotensive Syndrome

Maternal Hypotension Syndrome

Antepartum Maternal Hypotension Syndrome

Postpartum Maternal Hypotension Syndrome

Maternal Hypotension Syndrome, Antepartum Condition Or Complication

Maternal Hypotension Syndrome, Postpartum Condition Or Complication

Maternal Hypotension Syndrome, Unspecified Trimester

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus LMNA VGNC VGNC:30929
Canis familiaris LMNA VGNC VGNC:42717
Felis catus LMNA VGNC VGNC:68066
Macaca mulatta LMNA VGNC VGNC:74427
Rattus norvegicus LMNA RGD RGD:620456
Mus musculus LMNA MGD MGI:96794