LMNA - lamin A/C Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4000

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
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
25910212 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10381623 GOA
enables structural constituent of nuclear lamina IDA
IDA: Inferred from direct assay
2188730 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA double-strand break attachment to nuclear envelope IDA
IDA: Inferred from direct assay
31548606 GOA
involved in cellular response to hypoxia IEP
IEP: Inferred from expression pattern
20810912 GOA
acts upstream of or within positive effect cellular senescence IDA
IDA: Inferred from direct assay
20458013 GOA
involved in muscle organ development IMP
IMP: Inferred from mutant phenotype
10080180 GOA
involved in negative regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
27534416 GOA
involved in nuclear envelope organization IDA
IDA: Inferred from direct assay
2188730 GOA
involved in nuclear envelope organization IMP
IMP: Inferred from mutant phenotype
27534416 GOA
involved in protein localization IMP
IMP: Inferred from mutant phenotype
27534416 GOA
involved in regulation of telomere maintenance IMP
IMP: Inferred from mutant phenotype
25399868 GOA
Cellular Component GO Annotation Evidence References Source
located in nuclear envelope IDA
IDA: Inferred from direct assay
18606848 GOA
colocalizes with nuclear envelope IMP
IMP: Inferred from mutant phenotype
21610090 GOA
is active in nuclear lamina IDA
IDA: Inferred from direct assay
2188730 GOA
located in nuclear matrix IDA
IDA: Inferred from direct assay
31548606 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
24741066 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18809582 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
10080180 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
31548606 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

LMNA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
LMNA P02545 KRTAP10-7 Homo sapiens P60409 25416956
Intra
LMNA P02545 ZNF572 Homo sapiens Q7Z3I7 32814053
Intra
LMNA P02545 ZNF572 Homo sapiens Q7Z3I7 32814053
Intra
LMNA P02545 ZNF572 Homo sapiens Q7Z3I7 32814053
Intra
LMNA P02545 ZSCAN22 Homo sapiens P10073 32814053
Intra
LMNA P02545 ZSCAN22 Homo sapiens P10073 32814053
Intra
LMNA P02545 ZSCAN22 Homo sapiens P10073 32814053
Intra
LMNA P02545 RUFY4 Homo sapiens Q6ZNE9 32814053
Intra
LMNA P02545 RUFY4 Homo sapiens Q6ZNE9 32814053
Intra
LMNA P02545 RUFY4 Homo sapiens Q6ZNE9 32814053
Intra
LMNA P02545 IQUB Homo sapiens Q8NA54 32814053
Intra
LMNA P02545 IQUB Homo sapiens Q8NA54 32814053
Intra
LMNA P02545 IQUB Homo sapiens Q8NA54 32814053
Intra
LMNA P02545 PPARD Homo sapiens Q03181-2 32814053
Intra
LMNA P02545 PPARD Homo sapiens Q03181-2 32814053
Intra
LMNA P02545 PPARD Homo sapiens Q03181-2 32814053
Intra
LMNA P02545 ZNF564 Homo sapiens Q8TBZ8 32296183
Intra
LMNA P02545 INKA1 Homo sapiens Q96EL1 32814053
Intra
LMNA P02545 INKA1 Homo sapiens Q96EL1 32814053
Intra
LMNA P02545 INKA1 Homo sapiens Q96EL1 32814053
Intra
LMNA P02545 PASK Homo sapiens Q96RG2 21418524
Intra
LMNA P02545 SUN2 Homo sapiens Q9UH99 19933576
Intra
LMNA P02545 ZNF497 Homo sapiens Q6ZNH5 32814053
Intra
LMNA P02545 ZNF497 Homo sapiens Q6ZNH5 32814053
Intra
LMNA P02545 ZNF497 Homo sapiens Q6ZNH5 32814053
Intra
LMNA P02545 NUP155 Homo sapiens O75694 30488537
Intra
LMNA P02545 NUP155 Homo sapiens O75694 29568061
Intra
LMNA P02545 NOD1 Homo sapiens Q9Y239 32814053
Intra
LMNA P02545 NOD1 Homo sapiens Q9Y239 32814053
Intra
LMNA P02545 NOD1 Homo sapiens Q9Y239 32814053
Intra
LMNA P02545 BAG6 Homo sapiens P46379-2 32814053
Intra
LMNA P02545 BAG6 Homo sapiens P46379-2 32814053
Intra
LMNA P02545 BAG6 Homo sapiens P46379-2 32814053
Intra
LMNA P02545 PATZ1 Homo sapiens Q9HBE1-4 32814053
Intra
LMNA P02545 PATZ1 Homo sapiens Q9HBE1-4 32814053
Intra
LMNA P02545 PATZ1 Homo sapiens Q9HBE1-4 32814053
Intra
LMNA P02545 TRIM69 Homo sapiens Q86WT6-2 32814053
Intra
LMNA P02545 TRIM69 Homo sapiens Q86WT6-2 32814053
Intra
LMNA P02545 TRIM69 Homo sapiens Q86WT6-2 32814053
Intra
LMNA P02545 UBXN1 Homo sapiens Q04323-2 32814053
Intra
LMNA P02545 UBXN1 Homo sapiens Q04323-2 32814053
Intra
LMNA P02545 UBXN1 Homo sapiens Q04323-2 32814053
Intra
LMNA P02545 USP54 Homo sapiens Q70EL1-9 32814053
Intra
LMNA P02545 USP54 Homo sapiens Q70EL1-9 32814053
Intra
LMNA P02545 USP54 Homo sapiens Q70EL1-9 32814053
Intra
LMNA P02545 ZNF444 Homo sapiens Q8N0Y2-2 32814053
Intra
LMNA P02545 ZNF444 Homo sapiens Q8N0Y2-2 32814053
Intra
LMNA P02545 ZNF444 Homo sapiens Q8N0Y2-2 32814053
Intra
LMNA P02545 USP15 Homo sapiens Q9Y4E8-2 32814053
Intra
LMNA P02545 USP15 Homo sapiens Q9Y4E8-2 32814053
Intra
LMNA P02545 USP15 Homo sapiens Q9Y4E8-2 32814053
Intra
LMNA P02545 RBFOX1 Homo sapiens Q9NWB1-5 32814053
Intra
LMNA P02545 RBFOX1 Homo sapiens Q9NWB1-5 32814053
Intra
LMNA P02545 RBFOX1 Homo sapiens Q9NWB1-5 32814053
Intra
LMNA P02545 ALOX12 Homo sapiens P18054 10727209
Intra
LMNA P02545 ALOX12 Homo sapiens P18054
Y2H
10727209
Intra
LMNA P02545 ABLIM2 Homo sapiens Q6H8Q1-8 32814053
Intra
LMNA P02545 ABLIM2 Homo sapiens Q6H8Q1-8 32814053
Intra
LMNA P02545 ABLIM2 Homo sapiens Q6H8Q1-8 32814053
Intra
LMNA P02545 IL16 Homo sapiens Q14005-2 32814053
Intra
LMNA P02545 IL16 Homo sapiens Q14005-2 32814053
Intra
LMNA P02545 IL16 Homo sapiens Q14005-2 32814053
Intra
LMNA P02545 NFX1 Homo sapiens Q12986 32814053
Intra
LMNA P02545 NFX1 Homo sapiens Q12986 32814053
Intra
LMNA P02545 NFX1 Homo sapiens Q12986 32814053
Intra
LMNA P02545 NSD3 Homo sapiens Q9BZ95-3 32814053
Intra
LMNA P02545 NSD3 Homo sapiens Q9BZ95-3 32814053
Intra
LMNA P02545 NSD3 Homo sapiens Q9BZ95-3 32814053
Intra
LMNA P02545 BRPF3 Homo sapiens Q9ULD4-2 32814053
Intra
LMNA P02545 BRPF3 Homo sapiens Q9ULD4-2 32814053
Intra
LMNA P02545 BRPF3 Homo sapiens Q9ULD4-2 32814053
Intra
LMNA P02545 ATL1 Homo sapiens Q8WXF7 32814053
Intra
LMNA P02545 ATL1 Homo sapiens Q8WXF7 32814053
Intra
LMNA P02545 ATL1 Homo sapiens Q8WXF7 32814053
Intra
LMNA P02545 TNIP3 Homo sapiens Q96KP6 32814053
Intra
LMNA P02545 TNIP3 Homo sapiens Q96KP6 32814053
Intra
LMNA P02545 TNIP3 Homo sapiens Q96KP6 32814053
Intra
LMNA P02545 ZNF488 Homo sapiens Q96MN9-2 32814053
Intra
LMNA P02545 ZNF488 Homo sapiens Q96MN9-2 32814053
Intra
LMNA P02545 ZNF488 Homo sapiens Q96MN9-2 32814053
Intra
LMNA P02545 NSMF Homo sapiens Q6X4W1-6 32814053
Intra
LMNA P02545 NSMF Homo sapiens Q6X4W1-6 32814053
Intra
LMNA P02545 NSMF Homo sapiens Q6X4W1-6 32814053
Intra
LMNA P02545 FAM221B Homo sapiens A6H8Z2-3 32814053
Intra
LMNA P02545 FAM221B Homo sapiens A6H8Z2-3 32814053
Intra
LMNA P02545 ZKSCAN8 Homo sapiens Q15776 32814053
Intra
LMNA P02545 ZKSCAN8 Homo sapiens Q15776 32814053
Intra
LMNA P02545 ZKSCAN8 Homo sapiens Q15776 32814053
Intra
LMNA P02545 SUN1 Homo sapiens O94901 24375709
Intra
LMNA P02545 SUN1 Homo sapiens O94901 33961781
Intra
LMNA P02545 ZNF345 Homo sapiens Q14585 32814053
Intra
LMNA P02545 ZNF345 Homo sapiens Q14585 32814053
Intra
LMNA P02545 ZNF345 Homo sapiens Q14585 32814053
Intra
LMNA P02545 SLFN12 Homo sapiens Q8IYM2 32814053
Intra
LMNA P02545 SLFN12 Homo sapiens Q8IYM2 32814053
Intra
LMNA P02545 SLFN12 Homo sapiens Q8IYM2 32814053
Intra
LMNA P02545 LMNB2 Homo sapiens Q03252 29568061
Intra
LMNA P02545 LMNB2 Homo sapiens Q03252 30021884
Intra
LMNA P02545 LMNB2 Homo sapiens Q03252 33961781
Intra
LMNA P02545 LMNB2 Homo sapiens Q03252
TAP
24981860
Intra
LMNA P02545 LMNB2 Homo sapiens Q03252 29568061
Intra
LMNA P02545 LMNB2 Homo sapiens Q03252 35271311
Intra
LMNA P02545 NEBL Homo sapiens O76041 32814053
Intra
LMNA P02545 NEBL Homo sapiens O76041 32814053
Intra
LMNA P02545 NEBL Homo sapiens O76041 32814053
Intra
LMNA P02545 YWHAZ Homo sapiens P63104 15161933
Intra
LMNA P02545 RPS4X Homo sapiens P62701 32814053
Intra
LMNA P02545 RPS4X Homo sapiens P62701 32814053
Intra
LMNA P02545 RPS4X Homo sapiens P62701 32814053
Intra
LMNA P02545 STUB1 Homo sapiens Q9UNE7 32814053
Intra
LMNA P02545 STUB1 Homo sapiens Q9UNE7 32814053
Intra
LMNA P02545 STUB1 Homo sapiens Q9UNE7 32814053
Intra
LMNA P02545 STAM2 Homo sapiens O75886 32814053
Intra
LMNA P02545 STAM2 Homo sapiens O75886 32814053
Intra
LMNA P02545 STAM2 Homo sapiens O75886 32814053
Intra
LMNA P02545 TMPO Homo sapiens P42166 29568061
Intra
LMNA P02545 TMPO Homo sapiens P42166 29568061
Intra
LMNA P02545 ZNF649 Homo sapiens Q9BS31 32814053
Intra
LMNA P02545 ZNF649 Homo sapiens Q9BS31 32814053
Intra
LMNA P02545 ZNF649 Homo sapiens Q9BS31 32814053
Intra
LMNA P02545 PELI1 Homo sapiens Q96FA3 32296183
Intra
LMNA P02545 EMD Homo sapiens P50402 14597414
Intra
LMNA P02545 EMD Homo sapiens P50402 29568061
Intra
LMNA P02545 EMD Homo sapiens P50402 30488537
Intra
LMNA P02545 EMD Homo sapiens P50402 29568061
Intra
LMNA P02545 EMD Homo sapiens P50402 14597414
Intra
LMNA P02545 SPRED1 Homo sapiens Q7Z699 32814053
Intra
LMNA P02545 SPRED1 Homo sapiens Q7Z699 32814053
Intra
LMNA P02545 SPRED1 Homo sapiens Q7Z699 32814053
Intra
LMNA P02545 SYNE2 Homo sapiens Q8WXH0-1 23977161
Intra
LMNA P02545 PIAS1 Homo sapiens O75925 32814053
Intra
LMNA P02545 PIAS1 Homo sapiens O75925 32814053
Intra
LMNA P02545 PIAS1 Homo sapiens O75925 32814053
Intra
LMNA P02545 SNW1 Homo sapiens Q13573 32814053
Intra
LMNA P02545 SNW1 Homo sapiens Q13573 32814053
Intra
LMNA P02545 SNW1 Homo sapiens Q13573 32814053
Intra
LMNA P02545 CIMAP1D Homo sapiens Q3SX64 32814053
Intra
LMNA P02545 CIMAP1D Homo sapiens Q3SX64 32814053
Intra
LMNA P02545 CIMAP1D Homo sapiens Q3SX64 32814053
Intra
LMNA P02545 SPRED2 Homo sapiens Q7Z698 32814053
Intra
LMNA P02545 SPRED2 Homo sapiens Q7Z698 32814053
Intra
LMNA P02545 SPRED2 Homo sapiens Q7Z698 32814053
Intra
LMNA P02545 IK Homo sapiens Q13123 32814053
Intra
LMNA P02545 IK Homo sapiens Q13123 32814053
Intra
LMNA P02545 IK Homo sapiens Q13123 32814053
Intra
LMNA P02545 KLF6 Homo sapiens Q99612 32814053
Intra
LMNA P02545 KLF6 Homo sapiens Q99612 32814053
Intra
LMNA P02545 KLF6 Homo sapiens Q99612 32814053
Intra
LMNA P02545 ZNF20 Homo sapiens P17024 32814053
Intra
LMNA P02545 ZNF20 Homo sapiens P17024 32814053
Intra
LMNA P02545 ZNF20 Homo sapiens P17024 32814053
Intra
LMNA P02545 FAM161A Homo sapiens Q3B820 32814053
Intra
LMNA P02545 FAM161A Homo sapiens Q3B820 32814053
Intra
LMNA P02545 FAM161A Homo sapiens Q3B820 32814053
Intra
LMNA P02545 ZFP2 Homo sapiens Q6ZN57 32814053
Intra
LMNA P02545 ZFP2 Homo sapiens Q6ZN57 32814053
Intra
LMNA P02545 ZFP2 Homo sapiens Q6ZN57 32814053
Intra
LMNA P02545 BAHD1 Homo sapiens Q8TBE0 32814053
Intra
LMNA P02545 BAHD1 Homo sapiens Q8TBE0 32814053
Intra
LMNA P02545 BAHD1 Homo sapiens Q8TBE0 32814053
Intra
LMNA P02545 ZBTB48 Homo sapiens P10074 32814053
Intra
LMNA P02545 ZBTB48 Homo sapiens P10074 32814053
Intra
LMNA P02545 ZBTB48 Homo sapiens P10074 32814053
Intra
LMNA P02545 ASB9 Homo sapiens Q96DX5 32814053
Intra
LMNA P02545 ASB9 Homo sapiens Q96DX5 32814053
Intra
LMNA P02545 ASB9 Homo sapiens Q96DX5 32814053
Intra
LMNA P02545 RHPN1 Homo sapiens Q8TCX5 32814053
Intra
LMNA P02545 RHPN1 Homo sapiens Q8TCX5 32814053
Intra
LMNA P02545 RHPN1 Homo sapiens Q8TCX5 32814053
Intra
LMNA P02545 RNF138 Homo sapiens Q8WVD3 32814053
Intra
LMNA P02545 RNF138 Homo sapiens Q8WVD3 32814053
Intra
LMNA P02545 RNF138 Homo sapiens Q8WVD3 32814053
Intra
LMNA P02545 DUSP13B Homo sapiens Q9UII6 32296183
Intra
LMNA P02545 DUSP13B Homo sapiens Q9UII6 25416956
Intra
LMNA P02545 DUSP13B Homo sapiens Q9UII6 25416956
Intra
LMNA P02545 H3C13 Homo sapiens Q71DI3
SPR
20580717
Intra
LMNA P02545 RYBP Homo sapiens Q8N488 32814053
Intra
LMNA P02545 RYBP Homo sapiens Q8N488 32814053
Intra
LMNA P02545 RYBP Homo sapiens Q8N488 32814053
Intra
LMNA P02545 FAM9A Homo sapiens Q8IZU1 32814053
Intra
LMNA P02545 FAM9A Homo sapiens Q8IZU1 32814053
Intra
LMNA P02545 FAM9A Homo sapiens Q8IZU1 32814053
Intra
LMNA P02545 TUT7 Homo sapiens Q5VYS8-5 32814053
Intra
LMNA P02545 TUT7 Homo sapiens Q5VYS8-5 32814053
Intra
LMNA P02545 TUT7 Homo sapiens Q5VYS8-5 32814053
Intra
LMNA P02545 CDCA7L Homo sapiens Q96GN5-2 32814053
Intra
LMNA P02545 CDCA7L Homo sapiens Q96GN5-2 32814053
Intra
LMNA P02545 CDCA7L Homo sapiens Q96GN5-2 32814053
Intra
LMNA P02545 ZNF597 Homo sapiens Q96LX8 32814053
Intra
LMNA P02545 ZNF597 Homo sapiens Q96LX8 32814053
Intra
LMNA P02545 ZNF597 Homo sapiens Q96LX8 32814053
Intra
LMNA P02545 ZFPM2 Homo sapiens Q8WW38 32814053
Intra
LMNA P02545 ZFPM2 Homo sapiens Q8WW38 32814053
Intra
LMNA P02545 ZFPM2 Homo sapiens Q8WW38 32814053
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 29568061
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 32814053
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 29568061
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 33961781
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 37398436
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 35271311
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 29997244
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 30021884
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 29997244
Intra
LMNA P02545 LMNB1 Homo sapiens P20700 37398436
Cross
LMNA P02545 NEC1 Human herpesvirus 1 P10215 15140953
Cross
LMNA P02545 NEC2 Human herpesvirus 1 P10218 15140953
Cross: Cross-species interaction Intra: Intraspecies interaction

LMNA Antibodies

Cat. No. Product Name Application Reactivity
HY-P80204 Lamin A/C Antibody (YA314) WB, ICC/IF, IHC-P, FC Human, Mouse, Rat
HY-P810665 Phospho-Lamin A + Lamin C (Ser22) Antibody (YA9925) WB, IHC-P Human, Mouse, Rat
HY-P83922 Lamin A Antibody (YA3619) WB, IHC-P, ELISA Human, Mouse, Rat
HY-P83922A Lamin A Antibody (YA3619)(PBS only) WB, IHC-P, ELISA Human, Mouse, Rat
HY-P85253 Lamin A Antibody (YA4945) WB; IHC-P; IHC-F; IF-Tissue Human, Mouse, Rat
HY-P86062 Phospho-Lamin A/C(Ser392) Antibody (YA5754) WB, ICC/IF, ELISA Human, Mouse, Rat, Monkey
HY-P86358 Lamin A/C Antibody (YA6050) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

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
Others LMNA NCBI